node_or_edge id label comment source target uri node GO_0007605 sensory perception of sound null http://purl.obolibrary.org/obo/GO_0007605 node Orphanet_230851 Ehlers-Danlos syndrome, cardiac valvular type null http://www.orpha.net/ORDO/Orphanet_230851 node HP_0006467 Limited shoulder movement null http://purl.obolibrary.org/obo/HP_0006467 node EFO_0001983 leaf component null http://www.ebi.ac.uk/efo/EFO_0001983 node EFO_0002616 macroglobulinemia null http://www.ebi.ac.uk/efo/EFO_0002616 node EFO_0008469 B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio null http://www.ebi.ac.uk/efo/EFO_0008469 node Orphanet_93454 Dysostosis with predominant vertebral and costal involvement null http://www.orpha.net/ORDO/Orphanet_93454 node EFO_0003561 obsolete_tangential nucleus null http://www.ebi.ac.uk/efo/EFO_0003561 node EFO_0008306 tryptase beta-2 measurement null http://www.ebi.ac.uk/efo/EFO_0008306 node NCBITaxon_3654 Citrullus lanatus null http://purl.obolibrary.org/obo/NCBITaxon_3654 node CHEBI_76276 hexadecanedioate(2-) null http://purl.obolibrary.org/obo/CHEBI_76276 node UBERON_0002370 thymus null http://purl.obolibrary.org/obo/UBERON_0002370 node EFO_1000386 Mucinous Gastric Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000386 node NCBITaxon_118062 Methanobacterium congolense null http://purl.obolibrary.org/obo/NCBITaxon_118062 node EFO_0007308 Herpes simplex virus keratitis null http://www.ebi.ac.uk/efo/EFO_0007308 node UO_0000035 month null http://purl.obolibrary.org/obo/UO_0000035 node MONDO_0014138 nemaline myopathy 8 null http://purl.obolibrary.org/obo/MONDO_0014138 node EFO_0001400 obsolete_scapula null http://www.ebi.ac.uk/efo/EFO_0001400 node Orphanet_425 Apolipoprotein A-I deficiency null http://www.orpha.net/ORDO/Orphanet_425 node MONDO_0002436 nasal disorder null http://purl.obolibrary.org/obo/MONDO_0002436 node EFO_0009520 contraception null http://www.ebi.ac.uk/efo/EFO_0009520 node EFO_0000559 keratinizing squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0000559 node EFO_0004393 Theiler stage 1 null http://www.ebi.ac.uk/efo/EFO_0004393 node GO_0000278 mitotic cell cycle null http://purl.obolibrary.org/obo/GO_0000278 node CL_0000878 central nervous system macrophage null http://purl.obolibrary.org/obo/CL_0000878 node EFO_0002468 obsolete_oculomotor nucleus null http://www.ebi.ac.uk/efo/EFO_0002468 node CLO_0013885 GM17215 null http://purl.obolibrary.org/obo/CLO_0013885 node Orphanet_276234 Non-syndromic male infertility due to sperm motility disorder null http://www.orpha.net/ORDO/Orphanet_276234 node CHEBI_51057 3-phenylpropionate null http://purl.obolibrary.org/obo/CHEBI_51057 node CHEBI_36047 antibacterial drug null http://purl.obolibrary.org/obo/CHEBI_36047 node MONDO_0004588 night blindness null http://purl.obolibrary.org/obo/MONDO_0004588 node CHEBI_17632 nitrate null http://purl.obolibrary.org/obo/CHEBI_17632 node MONDO_0011024 dermatitis herpetiformis, familial null http://purl.obolibrary.org/obo/MONDO_0011024 node CL_0000485 mucosal type mast cell They are CD88-negative. The cytoplasmic granules contain low levels of histamine and high levels of chondroitin sulfate (mouse) or major neutral proteases and tryptase (humans). Additionally, they can produce leukotrienes (LTC4), IL-5, IL-6, and low levels of IL-4. They are reportedly very heterogeneous depending upon location and can convert to the MC(T) phenotype. http://purl.obolibrary.org/obo/CL_0000485 node EFO_0002556 obsolete_pancreatic duct epithelium null http://www.ebi.ac.uk/efo/EFO_0002556 node CL_0000779 multinuclear osteoclast Morphology: multinucleated, highly vesicular. http://purl.obolibrary.org/obo/CL_0000779 node HP_0000236 Abnormality of the anterior fontanelle null http://purl.obolibrary.org/obo/HP_0000236 node Orphanet_60040 Megalencephaly-capillary malformation-polymicrogyria syndrome null http://www.orpha.net/ORDO/Orphanet_60040 node GO_0097334 response to perphenazine null http://purl.obolibrary.org/obo/GO_0097334 node UBERON_6003559 adult nervous system null http://purl.obolibrary.org/obo/UBERON_6003559 node MONDO_0016556 transient congenital hypothyroidism due to neonatal factor null http://purl.obolibrary.org/obo/MONDO_0016556 node Orphanet_96175 Ring chromosome 11 null http://www.orpha.net/ORDO/Orphanet_96175 node Orphanet_262896 Partial duplication of the long arm of chromosome 8 null http://www.orpha.net/ORDO/Orphanet_262896 node EFO_0004337 intelligence null http://www.ebi.ac.uk/efo/EFO_0004337 node EFO_0010004 SCRB-seq null http://www.ebi.ac.uk/efo/EFO_0010004 node GO_0046655 folic acid metabolic process null http://purl.obolibrary.org/obo/GO_0046655 node CL_0002531 mature CD1a-positive dermal dendritic cell null http://purl.obolibrary.org/obo/CL_0002531 node Orphanet_268980 Isolated focal cortical dysplasia type Ib null http://www.orpha.net/ORDO/Orphanet_268980 node EFO_0004017 inversion null http://www.ebi.ac.uk/efo/EFO_0004017 node EFO_0004602 metagenomic data null http://www.ebi.ac.uk/efo/EFO_0004602 node EFO_0000231 adenoid cystic carcinoma null http://www.ebi.ac.uk/efo/EFO_0000231 node EFO_0000712 stroke Stroke includes two main types, hemorrhagic and ischemic. Both types of stroke can cause acute seizures at the time of the acute event, as well as epilepsy as a long-term complication. In the elderly, cerebrovascular disease and stroke are the most common cause of acute seizures and epilepsy. http://www.ebi.ac.uk/efo/EFO_0000712 node Orphanet_96263 48,XXXY syndrome null http://www.orpha.net/ORDO/Orphanet_96263 node EFO_0004425 initial time point null http://www.ebi.ac.uk/efo/EFO_0004425 node EFO_0005342 GM12869 null http://www.ebi.ac.uk/efo/EFO_0005342 node NCBITaxon_7998 Ictalurus punctatus null http://purl.obolibrary.org/obo/NCBITaxon_7998 node Orphanet_96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication null http://www.orpha.net/ORDO/Orphanet_96076 node Orphanet_95159 Hepatoerythropoietic porphyria null http://www.orpha.net/ORDO/Orphanet_95159 node MONDO_0012363 retinitis pigmentosa 32 null http://purl.obolibrary.org/obo/MONDO_0012363 node EFO_0004238 hearing loss null http://www.ebi.ac.uk/efo/EFO_0004238 node HP_0002105 Hemoptysis null http://purl.obolibrary.org/obo/HP_0002105 node EFO_0007084 HUES49 null http://www.ebi.ac.uk/efo/EFO_0007084 node EFO_0008973 TN-Seq null http://www.ebi.ac.uk/efo/EFO_0008973 node Orphanet_79187 Disorder of peptide metabolism null http://www.orpha.net/ORDO/Orphanet_79187 node MONDO_0016223 infantile hemangioma of rare localization Editor note: consider alternate naming http://purl.obolibrary.org/obo/MONDO_0016223 node UBERON_0003065 ciliary marginal zone null http://purl.obolibrary.org/obo/UBERON_0003065 node EFO_0007975 gondoic acid measurement null http://www.ebi.ac.uk/efo/EFO_0007975 node EFO_1001000 juxtacortical osteosarcoma null http://www.ebi.ac.uk/efo/EFO_1001000 node GO_0033646 host intracellular part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0033646 node Orphanet_268173 Intermittent maple syrup urine disease null http://www.orpha.net/ORDO/Orphanet_268173 node EFO_0005430 nicotine use null http://www.ebi.ac.uk/efo/EFO_0005430 node Orphanet_85451 ATTRV122I amyloidosis null http://www.orpha.net/ORDO/Orphanet_85451 node EFO_0007172 blackwater fever null http://www.ebi.ac.uk/efo/EFO_0007172 node NCBITaxon_6819 Euphausia superba null http://purl.obolibrary.org/obo/NCBITaxon_6819 node GO_0030134 ER to Golgi transport vesicle null http://purl.obolibrary.org/obo/GO_0030134 node HP_0025142 Constitutional symptom Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting. http://purl.obolibrary.org/obo/HP_0025142 node EFO_0006478 RPMI 2650 null http://www.ebi.ac.uk/efo/EFO_0006478 node Orphanet_98816 Benign childhood occipital epilepsy, Gastaut type null http://www.orpha.net/ORDO/Orphanet_98816 node EFO_0006315 thiopurine immunosuppressant-induced pancreatitis null http://www.ebi.ac.uk/efo/EFO_0006315 node Orphanet_53691 Congenital cornea plana null http://www.orpha.net/ORDO/Orphanet_53691 node UBERON_0000089 hypoblast (generic) null http://purl.obolibrary.org/obo/UBERON_0000089 node EFO_0001383 obsolete_postcentral gyrus null http://www.ebi.ac.uk/efo/EFO_0001383 node MONDO_0000831 thrombotic disease null http://purl.obolibrary.org/obo/MONDO_0000831 node Orphanet_79333 COG7-CDG null http://www.orpha.net/ORDO/Orphanet_79333 node Orphanet_2565 Mononen-Karnes-Senac syndrome null http://www.orpha.net/ORDO/Orphanet_2565 node EFO_0010308 inferior temporal gyrus volume measurement null http://www.ebi.ac.uk/efo/EFO_0010308 node Orphanet_2378 Laurin-Sandrow syndrome null http://www.orpha.net/ORDO/Orphanet_2378 node Orphanet_93473 Hurler syndrome null http://www.orpha.net/ORDO/Orphanet_93473 node Orphanet_268829 Basal encephalocele null http://www.orpha.net/ORDO/Orphanet_268829 node EFO_1000856 central neurocytoma null http://www.ebi.ac.uk/efo/EFO_1000856 node Orphanet_2786 Osteoporosis - oculocutaneous hypopigmentation syndrome null http://www.orpha.net/ORDO/Orphanet_2786 node NCBITaxon_1282 Staphylococcus epidermidis null http://purl.obolibrary.org/obo/NCBITaxon_1282 node EFO_0007342 legionellosis null http://www.ebi.ac.uk/efo/EFO_0007342 node HP_0009045 Exercise-induced rhabdomyolysis null http://purl.obolibrary.org/obo/HP_0009045 node CL_0002354 yolk sac hematopoietic stem cell null http://purl.obolibrary.org/obo/CL_0002354 node EFO_0004596 diabetes mellitus type 2 associated cataract null http://www.ebi.ac.uk/efo/EFO_0004596 node EFO_0006801 Alzheimer's disease neuropathologic change null http://www.ebi.ac.uk/efo/EFO_0006801 node Orphanet_100033 Hypomaturation amelogenesis imperfecta null http://www.orpha.net/ORDO/Orphanet_100033 node Orphanet_2466 MASA syndrome null http://www.orpha.net/ORDO/Orphanet_2466 node Orphanet_765 Pyruvate dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_765 node GO_0005783 endoplasmic reticulum null http://purl.obolibrary.org/obo/GO_0005783 node NCBITaxon_27771 Limanda limanda null http://purl.obolibrary.org/obo/NCBITaxon_27771 node Orphanet_578 Mucolipidosis type IV null http://www.orpha.net/ORDO/Orphanet_578 node EFO_1000944 gait apraxia null http://www.ebi.ac.uk/efo/EFO_1000944 node EFO_0003966 eye disease null http://www.ebi.ac.uk/efo/EFO_0003966 node EFO_0007869 wellbeing measurement null http://www.ebi.ac.uk/efo/EFO_0007869 node Orphanet_2874 Phakomatosis pigmentokeratotica null http://www.orpha.net/ORDO/Orphanet_2874 node EFO_0007430 persian gulf syndrome null http://www.ebi.ac.uk/efo/EFO_0007430 node EFO_0004684 tumor necrosis factor-alpha measurement null http://www.ebi.ac.uk/efo/EFO_0004684 node HP_0031295 Left atrial enlargement null http://purl.obolibrary.org/obo/HP_0031295 node EFO_0003099 Cushing syndrome Editor mote: DOID merged this into primary hyperaldosteronism but we believe this to be wrong. Update: fixed https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/525; consider adding subclass for inherited form http://www.ebi.ac.uk/efo/EFO_0003099 node CHEBI_29022 N-benzyladenine null http://purl.obolibrary.org/obo/CHEBI_29022 node NCBITaxon_101510 Rhodococcus jostii RHA1 null http://purl.obolibrary.org/obo/NCBITaxon_101510 node EFO_1000475 Pineoblastoma null http://www.ebi.ac.uk/efo/EFO_1000475 node Orphanet_93947 X-linked intellectual disability, Golabi-Ito-Hall type null http://www.orpha.net/ORDO/Orphanet_93947 node EFO_0010572 growth rate measurement null http://www.ebi.ac.uk/efo/EFO_0010572 node EFO_0005747 GM2 null http://www.ebi.ac.uk/efo/EFO_0005747 node Orphanet_1941 Juvenile absence epilepsy null http://www.orpha.net/ORDO/Orphanet_1941 node EFO_0009211 Hemoglobin A2 Prime to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009211 node CLO_0013168 GM17264 null http://purl.obolibrary.org/obo/CLO_0013168 node EFO_0008109 Dickkopf-related protein 3 measurement null http://www.ebi.ac.uk/efo/EFO_0008109 node EFO_0002159 DBTRG05MG null http://www.ebi.ac.uk/efo/EFO_0002159 node MONDO_0024635 small intestine disease null http://purl.obolibrary.org/obo/MONDO_0024635 node Orphanet_98615 Pigmented conjunctival lesion null http://www.orpha.net/ORDO/Orphanet_98615 node Orphanet_93359 Spondyloepimetaphyseal dysplasia with joint laxity null http://www.orpha.net/ORDO/Orphanet_93359 node Orphanet_89936 X-linked hypophosphatemia null http://www.orpha.net/ORDO/Orphanet_89936 node Orphanet_295171 Central polydactyly of fingers, unilateral null http://www.orpha.net/ORDO/Orphanet_295171 node EFO_1001490 late-onset myasthenia gravis null http://www.ebi.ac.uk/efo/EFO_1001490 node UBERON_0002465 lymphoid system null http://purl.obolibrary.org/obo/UBERON_0002465 node EFO_1000563 Teratoma with Malignant Transformation null http://www.ebi.ac.uk/efo/EFO_1000563 node EFO_1000400 Non-Neoplastic Bile Duct Disorder null http://www.ebi.ac.uk/efo/EFO_1000400 node EFO_0010660 neurodevelopmental disorder with macrocephaly and with or without seizures null http://www.ebi.ac.uk/efo/EFO_0010660 node EFO_0009915 TBC1 domain family member 24 null http://www.ebi.ac.uk/efo/EFO_0009915 node CHEBI_25434 bis(2-chloroethyl) sulfide null http://purl.obolibrary.org/obo/CHEBI_25434 node EFO_0010455 adipic acid mesurement null http://www.ebi.ac.uk/efo/EFO_0010455 node EFO_0004993 serum IgM measurement null http://www.ebi.ac.uk/efo/EFO_0004993 node NCBITaxon_76912 Zea mays subsp. parviglumis null http://purl.obolibrary.org/obo/NCBITaxon_76912 node MONDO_0004848 ulcerative stomatitis null http://purl.obolibrary.org/obo/MONDO_0004848 node EFO_0005835 OSS null http://www.ebi.ac.uk/efo/EFO_0005835 node EFO_0009738 pathologist null http://www.ebi.ac.uk/efo/EFO_0009738 node NCBITaxon_158899 Collimonas fungivorans null http://purl.obolibrary.org/obo/NCBITaxon_158899 node Orphanet_23 Argininosuccinic aciduria null http://www.orpha.net/ORDO/Orphanet_23 node HP_0000294 Low anterior hairline This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair. http://purl.obolibrary.org/obo/HP_0000294 node EFO_0003351 obsolete_gnathal primordium null http://www.ebi.ac.uk/efo/EFO_0003351 node MONDO_0044999 scalp disease null http://purl.obolibrary.org/obo/MONDO_0044999 node Orphanet_1842 Bone dysplasia, lethal Holmgren type null http://www.orpha.net/ORDO/Orphanet_1842 node EFO_0009112 density gradient centrifugation null http://www.ebi.ac.uk/efo/EFO_0009112 node EFO_0002247 NC37 null http://www.ebi.ac.uk/efo/EFO_0002247 node EFO_0003164 obsolete_Japanese null http://www.ebi.ac.uk/efo/EFO_0003164 node EFO_0009041 Cushing syndrome due to macronodular adrenal hyperplasia null http://www.ebi.ac.uk/efo/EFO_0009041 node EFO_0009522 disturbance of skin sensation null http://www.ebi.ac.uk/efo/EFO_0009522 node EFO_0004395 Theiler stage 3 null http://www.ebi.ac.uk/efo/EFO_0004395 node Orphanet_364820 TRPV4-related bone disorder null http://www.orpha.net/ORDO/Orphanet_364820 node EFO_0006795 serum VEGFR2 concentration measurement null http://www.ebi.ac.uk/efo/EFO_0006795 node EFO_0005923 AVL induced bursal lymphoma null http://www.ebi.ac.uk/efo/EFO_0005923 node EFO_0009826 abnormality of serum enzyme levels null http://www.ebi.ac.uk/efo/EFO_0009826 node EFO_0003510 obsolete_lateral ethmoid null http://www.ebi.ac.uk/efo/EFO_0003510 node HP_0002280 Enlarged cisterna magna Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture. http://purl.obolibrary.org/obo/HP_0002280 node HP_0002075 Dysdiadochokinesis Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion. http://purl.obolibrary.org/obo/HP_0002075 node EFO_0009639 Braxton-Hicks contractions null http://www.ebi.ac.uk/efo/EFO_0009639 node NCBITaxon_13816 Marsilea quadrifolia null http://purl.obolibrary.org/obo/NCBITaxon_13816 node EFO_0005680 omega-6 polyunsaturated fatty acid measurement null http://www.ebi.ac.uk/efo/EFO_0005680 node EFO_0010788 leukemia inhibitory factor receptor measurement null http://www.ebi.ac.uk/efo/EFO_0010788 node EFO_0009610 cervical spondylosis null http://www.ebi.ac.uk/efo/EFO_0009610 node HP_0003419 Low back pain null http://purl.obolibrary.org/obo/HP_0003419 node EFO_1001954 Epstein-Barr virus-related Burkitts lymphoma null http://www.ebi.ac.uk/efo/EFO_1001954 node CHEBI_3440 carvacrol null http://purl.obolibrary.org/obo/CHEBI_3440 node EFO_0006883 alpha peak frequency measurement null http://www.ebi.ac.uk/efo/EFO_0006883 node EFO_1001777 chloracne null http://www.ebi.ac.uk/efo/EFO_1001777 node CHEBI_31941 oxaliplatin null http://purl.obolibrary.org/obo/CHEBI_31941 node MONDO_0003125 testicular sex cord-stromal neoplasm null http://purl.obolibrary.org/obo/MONDO_0003125 node HP_0011368 Epidermal thickening null http://purl.obolibrary.org/obo/HP_0011368 node Orphanet_79264 Juvenile neuronal ceroid lipofuscinosis Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs http://www.orpha.net/ORDO/Orphanet_79264 node EFO_0010395 sphingomyelin 22:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010395 node EFO_0010876 HG03342 null http://www.ebi.ac.uk/efo/EFO_0010876 node NCBITaxon_54921 Pinus resinosa null http://purl.obolibrary.org/obo/NCBITaxon_54921 node Orphanet_98991 Nuclear cataract null http://www.orpha.net/ORDO/Orphanet_98991 node CHEBI_16552 N-formyl-L-methionine null http://purl.obolibrary.org/obo/CHEBI_16552 node EFO_1001080 Pancoast tumor null http://www.ebi.ac.uk/efo/EFO_1001080 node EFO_0006948 white wine liking measurement null http://www.ebi.ac.uk/efo/EFO_0006948 node Orphanet_313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia null http://www.orpha.net/ORDO/Orphanet_313808 node NCBITaxon_50225 Taraxacum officinale null http://purl.obolibrary.org/obo/NCBITaxon_50225 node EFO_0000010 CS57544 null http://www.ebi.ac.uk/efo/EFO_0000010 node NCBITaxon_10252 Vaccinia virus Lister null http://purl.obolibrary.org/obo/NCBITaxon_10252 node EFO_1002017 differentiated thyroid carcinoma null http://www.ebi.ac.uk/efo/EFO_1002017 node CLO_0031504 GM14501 null http://purl.obolibrary.org/obo/CLO_0031504 node CLO_0015130 GM17129 null http://purl.obolibrary.org/obo/CLO_0015130 node Orphanet_2238 Familial isolated hypoparathyroidism null http://www.orpha.net/ORDO/Orphanet_2238 node EFO_0010278 Shukla-Vernon syndrome null http://www.ebi.ac.uk/efo/EFO_0010278 node EFO_0002318 RKOE6 null http://www.ebi.ac.uk/efo/EFO_0002318 node MONDO_0056806 non-small cell squamous lung carcinoma null http://purl.obolibrary.org/obo/MONDO_0056806 node Orphanet_77243 Lipedema null http://www.orpha.net/ORDO/Orphanet_77243 node PO_0007089 stem elongation stage A measure of vegetative growth, but leaf production is to be preferred. http://purl.obolibrary.org/obo/PO_0007089 node EFO_0001975 obsolete_oral cavity null http://www.ebi.ac.uk/efo/EFO_0001975 node EFO_0008589 esterified cholesterol measurement null http://www.ebi.ac.uk/efo/EFO_0008589 node MONDO_0021301 adenoma of nipple null http://purl.obolibrary.org/obo/MONDO_0021301 node MONDO_0032934 genitourinary and/or brain malformation syndrome null http://purl.obolibrary.org/obo/MONDO_0032934 node MONDO_0024913 cattle disease null http://purl.obolibrary.org/obo/MONDO_0024913 node EFO_0000209 T-cell acute lymphoblastic leukemia null http://www.ebi.ac.uk/efo/EFO_0000209 node NCBITaxon_552 Erwinia amylovora null http://purl.obolibrary.org/obo/NCBITaxon_552 node MONDO_0011271 rigid spine muscular dystrophy 1 null http://purl.obolibrary.org/obo/MONDO_0011271 node Orphanet_353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion null http://www.orpha.net/ORDO/Orphanet_353281 node CL_0000077 mesothelial cell null http://purl.obolibrary.org/obo/CL_0000077 node EFO_0008990 FISSEQ null http://www.ebi.ac.uk/efo/EFO_0008990 node CHEBI_32370 myristoleate null http://purl.obolibrary.org/obo/CHEBI_32370 node EFO_0008677 CATCH-IT null http://www.ebi.ac.uk/efo/EFO_0008677 node MONDO_0003947 hyper-IgM syndrome Editor note: consider merging two NCIT classes http://purl.obolibrary.org/obo/MONDO_0003947 node CHEBI_78895 docosatrienoate null http://purl.obolibrary.org/obo/CHEBI_78895 node MONDO_0030057 neurodevelopmental, jaw, eye, and digital syndrome null http://purl.obolibrary.org/obo/MONDO_0030057 node CHEBI_18261 N-carbamoyl-beta-alanine null http://purl.obolibrary.org/obo/CHEBI_18261 node Orphanet_2730 Postaxial tetramelic oligodactyly null http://www.orpha.net/ORDO/Orphanet_2730 node Orphanet_370921 STT3A-CDG null http://www.orpha.net/ORDO/Orphanet_370921 node EFO_0007033 SPO null http://www.ebi.ac.uk/efo/EFO_0007033 node NCBITaxon_435 Acetobacter aceti null http://purl.obolibrary.org/obo/NCBITaxon_435 node CL_0002063 type II pneumocyte null http://purl.obolibrary.org/obo/CL_0002063 node CHEBI_24898 isoleucine null http://purl.obolibrary.org/obo/CHEBI_24898 node Orphanet_2951 Absent thumb - short stature - immunodeficiency null http://www.orpha.net/ORDO/Orphanet_2951 node NCBITaxon_18101 Gerbera hybrid cultivar null http://purl.obolibrary.org/obo/NCBITaxon_18101 node MONDO_0003090 extrahepatic bile duct carcinoma null http://purl.obolibrary.org/obo/MONDO_0003090 node Orphanet_2261 Hypospadias - intellectual disability, Goldblatt type null http://www.orpha.net/ORDO/Orphanet_2261 node EFO_1000154 Cecum Neuroendocrine Tumor G1 null http://www.ebi.ac.uk/efo/EFO_1000154 node NCBITaxon_264653 Synechococcus phage S-RSM2 null http://purl.obolibrary.org/obo/NCBITaxon_264653 node MONDO_0015876 rare vulvovaginal tumor null http://purl.obolibrary.org/obo/MONDO_0015876 node EFO_0009711 Townsend deprivation index null http://www.ebi.ac.uk/efo/EFO_0009711 node GO_0043084 penile erection null http://purl.obolibrary.org/obo/GO_0043084 node EFO_0003657 obsolete_regenerating fin null http://www.ebi.ac.uk/efo/EFO_0003657 node Orphanet_269 Facioscapulohumeral dystrophy null http://www.orpha.net/ORDO/Orphanet_269 node EFO_0007121 So-Yang null http://www.ebi.ac.uk/efo/EFO_0007121 node HP_0001337 Tremor Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. http://purl.obolibrary.org/obo/HP_0001337 node NCBITaxon_272943 Rhodobacter sphaeroides 2.4.1 null http://purl.obolibrary.org/obo/NCBITaxon_272943 node Orphanet_240 Léri-Weill dyschondrosteosis null http://www.orpha.net/ORDO/Orphanet_240 node Orphanet_309279 Glycoproteinosis See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 http://www.orpha.net/ORDO/Orphanet_309279 node EFO_0009757 idiopathic type 1 diabetes null http://www.ebi.ac.uk/efo/EFO_0009757 node UO_0000127 radiation unit null http://purl.obolibrary.org/obo/UO_0000127 node PO_0009046 flower The characteristic reproductive structure of angiosperms. May have as part one or more petals, sepals or tepals. May contain one or more pistillode (PO:0009078), staminode (PO:0009077) or other aborted organs that don't show up in mature form. http://purl.obolibrary.org/obo/PO_0009046 node EFO_0007344 leptospirosis null http://www.ebi.ac.uk/efo/EFO_0007344 node EFO_0008189 interleukin 7 measurement null http://www.ebi.ac.uk/efo/EFO_0008189 node EFO_0003745 random chromosome sequencing null http://www.ebi.ac.uk/efo/EFO_0003745 node EFO_0007648 vancomycin trough measurement null http://www.ebi.ac.uk/efo/EFO_0007648 node EFO_0001332 129S1/SvImJ null http://www.ebi.ac.uk/efo/EFO_0001332 node FBbt_00005545 labial sensory complex primordium null http://purl.obolibrary.org/obo/FBbt_00005545 node HP_0001425 Heterogeneous null http://purl.obolibrary.org/obo/HP_0001425 node MONDO_0003243 hepatocellular clear cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0003243 node HP_0002750 Delayed skeletal maturation null http://purl.obolibrary.org/obo/HP_0002750 node EFO_1000805 angioid streaks null http://www.ebi.ac.uk/efo/EFO_1000805 node EFO_0007432 Pestivirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007432 node MONDO_0018696 corticobasal syndrome null http://purl.obolibrary.org/obo/MONDO_0018696 node Orphanet_34533 Corneal dystrophy Editor note: NCIT distinguishes between acquired and genetic http://www.orpha.net/ORDO/Orphanet_34533 node MONDO_0040675 myofibroblastoma null http://purl.obolibrary.org/obo/MONDO_0040675 node GO_0051180 vitamin transport null http://purl.obolibrary.org/obo/GO_0051180 node EFO_1000618 Vaginal Carcinosarcoma null http://www.ebi.ac.uk/efo/EFO_1000618 node EFO_0007245 echinococcosis null http://www.ebi.ac.uk/efo/EFO_0007245 node EFO_0002805 obsolete_pelvis null http://www.ebi.ac.uk/efo/EFO_0002805 node UBERON_0001715 oculomotor nuclear complex null http://purl.obolibrary.org/obo/UBERON_0001715 node GO_0046858 chlorosome null http://purl.obolibrary.org/obo/GO_0046858 node CL_0000599 conidium null http://purl.obolibrary.org/obo/CL_0000599 node MONDO_0021383 neoplasm of floor of mouth null http://purl.obolibrary.org/obo/MONDO_0021383 node NCBITaxon_5762 Naegleria gruberi null http://purl.obolibrary.org/obo/NCBITaxon_5762 node UBERON_0018245 deep cervical thymus null http://purl.obolibrary.org/obo/UBERON_0018245 node EFO_0009213 Hemoglobin B Measurement null http://www.ebi.ac.uk/efo/EFO_0009213 node EFO_0000876 obsolete_vertebrate limb null http://www.ebi.ac.uk/efo/EFO_0000876 node EFO_1001796 Glomus Jugulare Tumor null http://www.ebi.ac.uk/efo/EFO_1001796 node PO_0006057 cotyledon abaxial epidermis null http://purl.obolibrary.org/obo/PO_0006057 node EFO_1000706 hand dermatosis Editor note: TODO check definition http://www.ebi.ac.uk/efo/EFO_1000706 node EFO_0000262 obsolete_anterior midgut primordium null http://www.ebi.ac.uk/efo/EFO_0000262 node EFO_0000075 CS57722 null http://www.ebi.ac.uk/efo/EFO_0000075 node EFO_0006960 Martuba ecotype null http://www.ebi.ac.uk/efo/EFO_0006960 node NCBITaxon_5850 Plasmodium knowlesi null http://purl.obolibrary.org/obo/NCBITaxon_5850 node EFO_0001067 parasitic infection null http://www.ebi.ac.uk/efo/EFO_0001067 node EFO_0004269 cardiac arrhythmia null http://www.ebi.ac.uk/efo/EFO_0004269 node EFO_0003041 obsolete_esophageal epithelium null http://www.ebi.ac.uk/efo/EFO_0003041 node EFO_0000483 exercise null http://www.ebi.ac.uk/efo/EFO_0000483 node EFO_0009301 dystonia 28, childhood-onset null http://www.ebi.ac.uk/efo/EFO_0009301 node EFO_0000964 obsolete_head null http://www.ebi.ac.uk/efo/EFO_0000964 node UBERON_2000175 posterior lateral line nerve null http://purl.obolibrary.org/obo/UBERON_2000175 node EFO_0009114 in utero exposure measurement null http://www.ebi.ac.uk/efo/EFO_0009114 node EFO_1001031 malignant hypertension null http://www.ebi.ac.uk/efo/EFO_1001031 node UBERON_2001263 ovarian follicle stage I null http://purl.obolibrary.org/obo/UBERON_2001263 node Orphanet_261211 16p11.2p12.2 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261211 node EFO_0000163 CS57905 null http://www.ebi.ac.uk/efo/EFO_0000163 node EFO_0010086 anti-Haemophilus influenzae type b polyribosylribitol phosphate IgG measurement null http://www.ebi.ac.uk/efo/EFO_0010086 node BTO_0003699 C1R cell null http://purl.obolibrary.org/obo/BTO_0003699 node EFO_0001155 GM12812 null http://www.ebi.ac.uk/efo/EFO_0001155 node HP_0025428 Bronchospasm null http://purl.obolibrary.org/obo/HP_0025428 node MONDO_0000774 autoimmune neuropathy Editor note: We do not draw a distinction between between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20 http://purl.obolibrary.org/obo/MONDO_0000774 node EFO_0005296 migraine without aura null http://www.ebi.ac.uk/efo/EFO_0005296 node EFO_0000571 lung adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0000571 node Orphanet_171703 Microcephaly - polymicrogyria - corpus callosum agenesis null http://www.orpha.net/ORDO/Orphanet_171703 node EFO_1001252 gastric cardia carcinoma null http://www.ebi.ac.uk/efo/EFO_1001252 node Orphanet_85295 HSD10 disease, atypical type null http://www.orpha.net/ORDO/Orphanet_85295 node Orphanet_1473 Uveal coloboma - cleft lip and palate - intellectual disability null http://www.orpha.net/ORDO/Orphanet_1473 node EFO_0005682 oxygen saturation measurement null http://www.ebi.ac.uk/efo/EFO_0005682 node EFO_0003803 interleukin-20 (Homo sapiens) null http://www.ebi.ac.uk/efo/EFO_0003803 node CL_0002528 mature CD14-positive dermal dendritic cell null http://purl.obolibrary.org/obo/CL_0002528 node EFO_0005526 response to alcohol null http://www.ebi.ac.uk/efo/EFO_0005526 node EFO_0003113 obsolete_polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy null http://www.ebi.ac.uk/efo/EFO_0003113 node Orphanet_295089 Congenital absence of thigh and lower leg with foot present, unilateral null http://www.orpha.net/ORDO/Orphanet_295089 node EFO_0010174 tonsillectomy null http://www.ebi.ac.uk/efo/EFO_0010174 node EFO_0002009 fibroblast derived cell line null http://www.ebi.ac.uk/efo/EFO_0002009 node Orphanet_1052 Mosaic variegated aneuploidy syndrome null http://www.orpha.net/ORDO/Orphanet_1052 node HP_0200023 Priapism null http://purl.obolibrary.org/obo/HP_0200023 node PATO_0000068 qualitative TODO: define this or obsolete it and move children somewhere else. http://purl.obolibrary.org/obo/PATO_0000068 node HP_0012410 Pure red cell aplasia Pure red cell aplasia results from a maturation arrest occurs in the formation of erythrocytes. http://purl.obolibrary.org/obo/HP_0012410 node HP_0009943 Complete duplication of thumb phalanx null http://purl.obolibrary.org/obo/HP_0009943 node MONDO_0002398 mucinous adenofibroma null http://purl.obolibrary.org/obo/MONDO_0002398 node MONDO_0007348 obsolete colchicine resistance null http://purl.obolibrary.org/obo/MONDO_0007348 node EFO_0007533 vasomotor rhinitis null http://www.ebi.ac.uk/efo/EFO_0007533 node EFO_0006606 KARPAS 1106P null http://www.ebi.ac.uk/efo/EFO_0006606 node HANCESTRO_0015 Greater Middle Eastern (Middle Eastern, North African or Persian) null http://purl.obolibrary.org/obo/HANCESTRO_0015 node EFO_0006429 HCC1576 null http://www.ebi.ac.uk/efo/EFO_0006429 node EFO_0003024 interferon gamma null http://www.ebi.ac.uk/efo/EFO_0003024 node CLO_0027484 GM15224 null http://purl.obolibrary.org/obo/CLO_0027484 node MONDO_0030008 combined oxidative phosphorylation deficiency 42 null http://purl.obolibrary.org/obo/MONDO_0030008 node Orphanet_2679 Infantile axonal neuropathy null http://www.orpha.net/ORDO/Orphanet_2679 node MONDO_0100223 mitochondrial complex I deficiency, nuclear type Editor note: We split out the nuclear type subclass, as OMIMPS:252010 refers to nuclear only. See https://github.com/monarch-initiative/mondo/issues/1042 http://purl.obolibrary.org/obo/MONDO_0100223 node Orphanet_399103 Nebulin-related early-onset distal myopathy null http://www.orpha.net/ORDO/Orphanet_399103 node NCBITaxon_295405 Bacteroides fragilis YCH46 null http://purl.obolibrary.org/obo/NCBITaxon_295405 node EFO_0007579 blood chromium measurement null http://www.ebi.ac.uk/efo/EFO_0007579 node Orphanet_98969 Macular corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98969 node EFO_0002671 iberin null http://www.ebi.ac.uk/efo/EFO_0002671 node EFO_0007621 bone mineral content measurement null http://www.ebi.ac.uk/efo/EFO_0007621 node MONDO_0011688 muscular dystrophy-dystroglycanopathy type B5 null http://purl.obolibrary.org/obo/MONDO_0011688 node Orphanet_370131 White platelet syndrome Editor note: check relationship to platelet granule deficiency disorder http://www.orpha.net/ORDO/Orphanet_370131 node CL_0002468 Gr1-low myeloid suppressor cell null http://purl.obolibrary.org/obo/CL_0002468 node EFO_0004051 CB4555 null http://www.ebi.ac.uk/efo/EFO_0004051 node EFO_0010638 atopic asthma null http://www.ebi.ac.uk/efo/EFO_0010638 node Orphanet_309310 Mucopolysaccharidosis type 4B null http://www.orpha.net/ORDO/Orphanet_309310 node EFO_0002892 thyroid carcinoma null http://www.ebi.ac.uk/efo/EFO_0002892 node Orphanet_309133 Metabolic disease due to other fatty acid oxidation disorder null http://www.orpha.net/ORDO/Orphanet_309133 node GO_0042538 hyperosmotic salinity response null http://purl.obolibrary.org/obo/GO_0042538 node HP_0000572 Visual loss null http://purl.obolibrary.org/obo/HP_0000572 node Orphanet_370109 Ataxia-telangiectasia variant null http://www.orpha.net/ORDO/Orphanet_370109 node EFO_0008471 cardiac stress biomarker measurement null http://www.ebi.ac.uk/efo/EFO_0008471 node EFO_0008266 plexin-C1 measurement null http://www.ebi.ac.uk/efo/EFO_0008266 node EFO_0007902 hepcidin:transferrin saturation ratio null http://www.ebi.ac.uk/efo/EFO_0007902 node GO_0042322 negative regulation of circadian sleep/wake cycle, REM sleep null http://purl.obolibrary.org/obo/GO_0042322 node EFO_0002980 ILSXISS24/TejJ null http://www.ebi.ac.uk/efo/EFO_0002980 node UBERON_0007125 pharyngeal pouch 4 null http://purl.obolibrary.org/obo/UBERON_0007125 node EFO_0007725 embryo stage null http://www.ebi.ac.uk/efo/EFO_0007725 node EFO_0007035 Chlamydia pneumoniae seropositivity null http://www.ebi.ac.uk/efo/EFO_0007035 node Orphanet_295197 Synpolydactyly type 2 null http://www.orpha.net/ORDO/Orphanet_295197 node Orphanet_269560 Genetic cerebellar malformation null http://www.orpha.net/ORDO/Orphanet_269560 node Orphanet_353308 Pyruvate carboxylase deficiency, infantile form null http://www.orpha.net/ORDO/Orphanet_353308 node EFO_0002958 experimental cell null http://www.ebi.ac.uk/efo/EFO_0002958 node NCBITaxon_1930 Streptomyces scabiei null http://purl.obolibrary.org/obo/NCBITaxon_1930 node EFO_0008354 cognitive function measurement null http://www.ebi.ac.uk/efo/EFO_0008354 node EFO_0000895 obsolete_enteric nervous system null http://www.ebi.ac.uk/efo/EFO_0000895 node UBERON_0000203 pallium null http://purl.obolibrary.org/obo/UBERON_0000203 node EFO_0007813 cotinine measurement null http://www.ebi.ac.uk/efo/EFO_0007813 node HP_0100543 Cognitive impairment null http://purl.obolibrary.org/obo/HP_0100543 node EFO_1001399 Pneumonia, Aspiration null http://www.ebi.ac.uk/efo/EFO_1001399 node EFO_0007123 So-Eum null http://www.ebi.ac.uk/efo/EFO_0007123 node UBERON_0000016 endocrine pancreas null http://purl.obolibrary.org/obo/UBERON_0000016 node HP_0032190 Abnormal meniscus morphology The meniscus is a fibrocartilaginous structure of the knee joint that enables the even distribution of a weight-bearing load across the articular surfaces. The menisci bear between 40 to 70% of the load across the knee, and the rest of the load is transmitted directly to the articular cartilage. http://purl.obolibrary.org/obo/HP_0032190 node Orphanet_101039 Female restricted epilepsy with intellectual disability null http://www.orpha.net/ORDO/Orphanet_101039 node EFO_1000514 Salivary Gland Adenosquamous Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000514 node EFO_0005390 KARPAS 299 null http://www.ebi.ac.uk/efo/EFO_0005390 node EFO_0009293 percutaneous kidney biopsy null http://www.ebi.ac.uk/efo/EFO_0009293 node EFO_0002565 embryonic day 14.5 null http://www.ebi.ac.uk/efo/EFO_0002565 node CLO_0013982 GM17161 null http://purl.obolibrary.org/obo/CLO_0013982 node Orphanet_238646 Congenital primary megaureter, obstructed form null http://www.orpha.net/ORDO/Orphanet_238646 node EFO_0004288 colonic neoplasm null http://www.ebi.ac.uk/efo/EFO_0004288 node Orphanet_319465 Inherited acute myeloid leukemia null http://www.orpha.net/ORDO/Orphanet_319465 node MONDO_0016752 benign peripheral nerve sheath tumor Editor note: consider relationship to granular cell tumor http://purl.obolibrary.org/obo/MONDO_0016752 node EFO_0000820 obsolete_pericardium null http://www.ebi.ac.uk/efo/EFO_0000820 node GO_1901555 response to paclitaxel Awaiting an import from GO. http://purl.obolibrary.org/obo/GO_1901555 node EFO_1001487 secondary biliary cirrhosis null http://www.ebi.ac.uk/efo/EFO_1001487 node EFO_0003606 obsolete_occipital lateral line neuromast null http://www.ebi.ac.uk/efo/EFO_0003606 node Orphanet_263410 Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease null http://www.orpha.net/ORDO/Orphanet_263410 node EFO_1000121 Benign Smooth Muscle Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000121 node EFO_0004346 neuroimaging measurement is about MSH:D059906 http://www.ebi.ac.uk/efo/EFO_0004346 node EFO_0003419 obsolete_forerunner cell group null http://www.ebi.ac.uk/efo/EFO_0003419 node EFO_0003348 obsolete_pericardial cell primordium null http://www.ebi.ac.uk/efo/EFO_0003348 node MONDO_0054750 amyotrophic lateral sclerosis, susceptibility to, 24 null http://purl.obolibrary.org/obo/MONDO_0054750 node EFO_0009194 Pulmonary arterial hypertension associated with HIV infection null http://www.ebi.ac.uk/efo/EFO_0009194 node MONDO_0040677 invasive carcinoma null http://purl.obolibrary.org/obo/MONDO_0040677 node Orphanet_137902 Isolated optic nerve hypoplasia null http://www.orpha.net/ORDO/Orphanet_137902 node MONDO_0060765 fibroepithelial polyp null http://purl.obolibrary.org/obo/MONDO_0060765 node EFO_0006979 Hilversum ecotype null http://www.ebi.ac.uk/efo/EFO_0006979 node EFO_0004611 low density lipoprotein cholesterol measurement null http://www.ebi.ac.uk/efo/EFO_0004611 node Orphanet_307871 Disease with focal palmoplantar keratoderma as a major feature null http://www.orpha.net/ORDO/Orphanet_307871 node EFO_0004434 454 GS Junior sequencer null http://www.ebi.ac.uk/efo/EFO_0004434 node EFO_0003507 obsolete_cleithrum null http://www.ebi.ac.uk/efo/EFO_0003507 node Orphanet_96068 Mosaic trisomy 22 null http://www.orpha.net/ORDO/Orphanet_96068 node EFO_1001810 mercury poisoning null http://www.ebi.ac.uk/efo/EFO_1001810 node MONDO_0021116 luminal A breast carcinoma null http://purl.obolibrary.org/obo/MONDO_0021116 node EFO_0004240 heroin dependence null http://www.ebi.ac.uk/efo/EFO_0004240 node EFO_0007984 platelet component distribution width null http://www.ebi.ac.uk/efo/EFO_0007984 node Orphanet_95495 Disease associated with non-acquired combined pituitary hormone deficiency null http://www.orpha.net/ORDO/Orphanet_95495 node EFO_0006399 G121 null http://www.ebi.ac.uk/efo/EFO_0006399 node EFO_0010251 spinocerebellar ataxia 48 null http://www.ebi.ac.uk/efo/EFO_0010251 node MONDO_0060666 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome null http://purl.obolibrary.org/obo/MONDO_0060666 node EFO_0010732 omega-6:omega-3 polyunsaturated fatty acid ratio null http://www.ebi.ac.uk/efo/EFO_0010732 node MONDO_0060593 actn3 deficiency null http://purl.obolibrary.org/obo/MONDO_0060593 node EFO_0004920 progression free survival null http://www.ebi.ac.uk/efo/EFO_0004920 node EFO_1000337 Lung Sclerosing Hemangioma Editor note: we beieve the 3 DO classes are equivalent http://www.ebi.ac.uk/efo/EFO_1000337 node MONDO_0011484 catecholaminergic polymorphic ventricular tachycardia 1 null http://purl.obolibrary.org/obo/MONDO_0011484 node EFO_0010229 phosphatidylethanolamine ether measurement null http://www.ebi.ac.uk/efo/EFO_0010229 node Orphanet_98988 Anterior polar cataract null http://www.orpha.net/ORDO/Orphanet_98988 node EFO_0006487 SK-MEL-24 null http://www.ebi.ac.uk/efo/EFO_0006487 node MONDO_0021017 synaptopathy null http://purl.obolibrary.org/obo/MONDO_0021017 node MONDO_0017043 congenital mesoblastic nephroma null http://purl.obolibrary.org/obo/MONDO_0017043 node EFO_0005298 allergic sensitization measurement null http://www.ebi.ac.uk/efo/EFO_0005298 node MONDO_0030088 diabetes mellitus, permanent neonatal 3 null http://purl.obolibrary.org/obo/MONDO_0030088 node CL_0000050 megakaryocyte-erythroid progenitor cell MEPs are reportedly CD19-negative, CD34-negative, CD45RA-negative, CD110-positive, CD117-positive, and SCA1-negative and reportedly express the transcription factors GATA-1 and NF-E2. http://purl.obolibrary.org/obo/CL_0000050 node Orphanet_2756 Orofaciodigital syndrome type 10 null http://www.orpha.net/ORDO/Orphanet_2756 node NCBITaxon_29655 Zostera marina null http://purl.obolibrary.org/obo/NCBITaxon_29655 node EFO_0006293 SGC-7901 null http://www.ebi.ac.uk/efo/EFO_0006293 node Orphanet_79293 Familial LCAT deficiency null http://www.orpha.net/ORDO/Orphanet_79293 node EFO_0010317 paracentral lobule volume measurement null http://www.ebi.ac.uk/efo/EFO_0010317 node Orphanet_97364 Bilateral multicystic dysplastic kidney null http://www.orpha.net/ORDO/Orphanet_97364 node EFO_0010902 anti-herpes simplex virus 7 antibody measurement null http://www.ebi.ac.uk/efo/EFO_0010902 node CHEBI_32484 glutamate residue null http://purl.obolibrary.org/obo/CHEBI_32484 node Orphanet_183616 Genetic neuro-ophthalmological disease null http://www.orpha.net/ORDO/Orphanet_183616 node Orphanet_208593 Genetic hypoparathyroidism null http://www.orpha.net/ORDO/Orphanet_208593 node Orphanet_169805 Moderately severe hemophilia A null http://www.orpha.net/ORDO/Orphanet_169805 node Orphanet_254531 Paternal 14q32.2 hypomethylation syndrome null http://www.orpha.net/ORDO/Orphanet_254531 node Orphanet_1014 Alopecia - intellectual disability - hypergonadotropic hypogonadism null http://www.orpha.net/ORDO/Orphanet_1014 node EFO_0008074 cathepsin Z measurement null http://www.ebi.ac.uk/efo/EFO_0008074 node EFO_0008533 dyspepsia null http://www.ebi.ac.uk/efo/EFO_0008533 node NCBITaxon_549 Pantoea agglomerans null http://purl.obolibrary.org/obo/NCBITaxon_549 node MONDO_0011853 Camptosynpolydactyly, complex null http://purl.obolibrary.org/obo/MONDO_0011853 node Orphanet_79194 Disorder of serine or glycine metabolism null http://www.orpha.net/ORDO/Orphanet_79194 node Orphanet_268926 Midline cerebral malformation null http://www.orpha.net/ORDO/Orphanet_268926 node EFO_0010803 urokinase-type plasminogen activator measurement null http://www.ebi.ac.uk/efo/EFO_0010803 node MONDO_0001718 scleritis (disease) null http://purl.obolibrary.org/obo/MONDO_0001718 node EFO_0008778 IMS-MDA null http://www.ebi.ac.uk/efo/EFO_0008778 node FMA_3897 proximal portion of circumflex branch of left coronary artery null http://purl.obolibrary.org/obo/FMA_3897 node EFO_1000671 bacterial exanthem null http://www.ebi.ac.uk/efo/EFO_1000671 node EFO_0008162 integrin alpha-I: beta-1 complex measurement null http://www.ebi.ac.uk/efo/EFO_0008162 node Orphanet_250932 Autosomal dominant optic atrophy and peripheral neuropathy null http://www.orpha.net/ORDO/Orphanet_250932 node MONDO_0016683 gliomatosis cerebri null http://purl.obolibrary.org/obo/MONDO_0016683 node Orphanet_98670 Vitreoretinal degeneration null http://www.orpha.net/ORDO/Orphanet_98670 node EFO_1000484 Pleural Epithelioid Mesothelioma null http://www.ebi.ac.uk/efo/EFO_1000484 node UBERON_0001398 brachial artery null http://purl.obolibrary.org/obo/UBERON_0001398 node Orphanet_363665 Acroosteolysis-keloid-like lesions-premature aging syndrome null http://www.orpha.net/ORDO/Orphanet_363665 node Orphanet_177 Rhizomelic chondrodysplasia punctata null http://www.orpha.net/ORDO/Orphanet_177 node Orphanet_3390 Proximal tubulopathy - diabetes mellitus - cerebellar ataxia null http://www.orpha.net/ORDO/Orphanet_3390 node EFO_0001428 cross sectional design null http://www.ebi.ac.uk/efo/EFO_0001428 node EFO_0008866 Poly(A)-ClickSeq null http://www.ebi.ac.uk/efo/EFO_0008866 node EFO_0009708 metastasis null http://www.ebi.ac.uk/efo/EFO_0009708 node MONDO_0011074 autosomal dominant nonsyndromic deafness 7 null http://purl.obolibrary.org/obo/MONDO_0011074 node Orphanet_2300 Multiple intestinal atresia null http://www.orpha.net/ORDO/Orphanet_2300 node MONDO_0003495 ovarian squamous cell neoplasm null http://purl.obolibrary.org/obo/MONDO_0003495 node EFO_0002168 DU4475 null http://www.ebi.ac.uk/efo/EFO_0002168 node Orphanet_75373 Progressive bifocal chorioretinal atrophy null http://www.orpha.net/ORDO/Orphanet_75373 node EFO_0009018 Autosomal recessive spastic paraplegia type 75 null http://www.ebi.ac.uk/efo/EFO_0009018 node Orphanet_329195 Developmental delay with autism spectrum disorder and gait instability null http://www.orpha.net/ORDO/Orphanet_329195 node EFO_0008045 C-C motif chemokine 17 measurement null http://www.ebi.ac.uk/efo/EFO_0008045 node Orphanet_156159 Isolated dystonia null http://www.orpha.net/ORDO/Orphanet_156159 node Orphanet_101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness null http://www.orpha.net/ORDO/Orphanet_101097 node EFO_1000572 Testicular Sertoli Cell Tumor null http://www.ebi.ac.uk/efo/EFO_1000572 node MONDO_0003789 hereditary papillary renal cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0003789 node NCBITaxon_11089 Yellow fever virus null http://purl.obolibrary.org/obo/NCBITaxon_11089 node UBERON_0004026 caudal ganglionic eminence null http://purl.obolibrary.org/obo/UBERON_0004026 node Orphanet_3368 Trigonocephaly - bifid nose - acral anomalies null http://www.orpha.net/ORDO/Orphanet_3368 node MONDO_0014518 platelet-type bleeding disorder 19 null http://purl.obolibrary.org/obo/MONDO_0014518 node EFO_0002620 obsolete_primary hyperparathyroidism null http://www.ebi.ac.uk/efo/EFO_0002620 node EFO_1000919 endometrial stromal sarcoma null http://www.ebi.ac.uk/efo/EFO_1000919 node MONDO_0002352 larynx cancer null http://purl.obolibrary.org/obo/MONDO_0002352 node MONDO_0003175 salivary gland adenoid cystic carcinoma null http://purl.obolibrary.org/obo/MONDO_0003175 node EFO_0008268 programmed cell death 1 ligand 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008268 node EFO_0008749 Fusion-seq null http://www.ebi.ac.uk/efo/EFO_0008749 node EFO_0004790 CD40 ligand measurement null http://www.ebi.ac.uk/efo/EFO_0004790 node Orphanet_329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency null http://www.orpha.net/ORDO/Orphanet_329255 node EFO_0002256 NCI-H1573 null http://www.ebi.ac.uk/efo/EFO_0002256 node EFO_0001329 C3H/HeJ null http://www.ebi.ac.uk/efo/EFO_0001329 node EFO_0009106 sample enrichment null http://www.ebi.ac.uk/efo/EFO_0009106 node EFO_0002841 NCI-N87 null http://www.ebi.ac.uk/efo/EFO_0002841 node EFO_0000769 Epstein-Barr virus infection null http://www.ebi.ac.uk/efo/EFO_0000769 node UBERON_0001083 myocardium of ventricle null http://purl.obolibrary.org/obo/UBERON_0001083 node MONDO_0013810 COG6-CGD null http://purl.obolibrary.org/obo/MONDO_0013810 node MONDO_0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome null http://purl.obolibrary.org/obo/MONDO_0014606 node Orphanet_79226 Sterol metabolism disorder null http://www.orpha.net/ORDO/Orphanet_79226 node EFO_0009327 cerebellum growth measurement null http://www.ebi.ac.uk/efo/EFO_0009327 node EFO_1000887 cutaneous syphilis null http://www.ebi.ac.uk/efo/EFO_1000887 node Orphanet_242 46,XY complete gonadal dysgenesis null http://www.orpha.net/ORDO/Orphanet_242 node EFO_0008356 dihomo-gamma-linoleic acid measurement null http://www.ebi.ac.uk/efo/EFO_0008356 node EFO_0002062 ITM-E6E7 null http://www.ebi.ac.uk/efo/EFO_0002062 node Orphanet_98267 Genetic non-syndromic obesity null http://www.orpha.net/ORDO/Orphanet_98267 node EFO_1001057 necrotizing sialometaplasia null http://www.ebi.ac.uk/efo/EFO_1001057 node MONDO_0014878 patent ductus arteriosus 2 null http://purl.obolibrary.org/obo/MONDO_0014878 node EFO_0002344 SNU16 null http://www.ebi.ac.uk/efo/EFO_0002344 node EFO_0000376 obsolete_conventional clear cell renal carcinoma null http://www.ebi.ac.uk/efo/EFO_0000376 node MONDO_0020587 factor XI deficiency null http://purl.obolibrary.org/obo/MONDO_0020587 node EFO_0010797 sulfotrasferase 1A1 measurement null http://www.ebi.ac.uk/efo/EFO_0010797 node NCBITaxon_1614 Lactobacillus fructivorans null http://purl.obolibrary.org/obo/NCBITaxon_1614 node MONDO_0018640 secondary vasculitis null http://purl.obolibrary.org/obo/MONDO_0018640 node EFO_0004691 obsolete_Brugada syndrome null http://www.ebi.ac.uk/efo/EFO_0004691 node Orphanet_104013 Metabolic disease with intestinal involvement null http://www.orpha.net/ORDO/Orphanet_104013 node EFO_0005487 DZ685 null http://www.ebi.ac.uk/efo/EFO_0005487 node EFO_0002742 B6.H2_g7 null http://www.ebi.ac.uk/efo/EFO_0002742 node EFO_0009415 CCL19 measurement null http://www.ebi.ac.uk/efo/EFO_0009415 node UBERON_6001780 ventral thoracic disc null http://purl.obolibrary.org/obo/UBERON_6001780 node Orphanet_330 Congenital factor XII deficiency null http://www.orpha.net/ORDO/Orphanet_330 node CHEBI_16345 3-sulfino-L-alanine null http://purl.obolibrary.org/obo/CHEBI_16345 node Orphanet_93424 Perlecan-related bone disorder null http://www.orpha.net/ORDO/Orphanet_93424 node EFO_1000788 osteoarthritis, toe null http://www.ebi.ac.uk/efo/EFO_1000788 node EFO_0000259 obsolete_anterior endoderm anlage null http://www.ebi.ac.uk/efo/EFO_0000259 node EFO_0010885 HG03520 null http://www.ebi.ac.uk/efo/EFO_0010885 node PO_0006001 phyllome null http://purl.obolibrary.org/obo/PO_0006001 node EFO_1001348 HIV-Associated Lipodystrophy Syndrome null http://www.ebi.ac.uk/efo/EFO_1001348 node CHEBI_66849 phosphatidylcholine 32:1 null http://purl.obolibrary.org/obo/CHEBI_66849 node EFO_0001011 obsolete_taproot null http://www.ebi.ac.uk/efo/EFO_0001011 node NCBITaxon_28037 Streptococcus mitis null http://purl.obolibrary.org/obo/NCBITaxon_28037 node UBERON_2000940 posterior lateral line neuromast null http://purl.obolibrary.org/obo/UBERON_2000940 node DOID_10718 giardiasis null http://purl.obolibrary.org/obo/DOID_10718 node EFO_0005152 Col-4 null http://www.ebi.ac.uk/efo/EFO_0005152 node EFO_0005458 SK-MM-2 null http://www.ebi.ac.uk/efo/EFO_0005458 node EFO_0005866 embryonic stage 7 Temporal ordering number - 240. http://www.ebi.ac.uk/efo/EFO_0005866 node EFO_0004939 T2 tumor stage null http://www.ebi.ac.uk/efo/EFO_0004939 node BTO_0004687 orbit null http://purl.obolibrary.org/obo/BTO_0004687 node EFO_0000568 light null http://www.ebi.ac.uk/efo/EFO_0000568 node GO_0009127 purine nucleoside monophosphate biosynthetic process null http://purl.obolibrary.org/obo/GO_0009127 node Orphanet_96321 Polyploidy null http://www.orpha.net/ORDO/Orphanet_96321 node EFO_1001249 non-alcoholic steatohepatitis null http://www.ebi.ac.uk/efo/EFO_1001249 node Orphanet_93600 Primary hyperoxaluria type 3 null http://www.orpha.net/ORDO/Orphanet_93600 node Orphanet_317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia null http://www.orpha.net/ORDO/Orphanet_317476 node EFO_0005679 obsolete_conotruncal heart defect null http://www.ebi.ac.uk/efo/EFO_0005679 node NCBITaxon_181288 Lotus uliginosus null http://purl.obolibrary.org/obo/NCBITaxon_181288 node HP_0002619 Varicose veins null http://purl.obolibrary.org/obo/HP_0002619 node EFO_0005240 rhegmatogenous retinal detachment null http://www.ebi.ac.uk/efo/EFO_0005240 node CL_0000936 early lymphoid progenitor Markers are associated with mouse cells. ELP transcription factors include E2A-positive, Ikaros-positive, EBF-negative, Pax5-negative, PU.1-negative. http://purl.obolibrary.org/obo/CL_0000936 node MONDO_0021118 intestinal neoplasm null http://purl.obolibrary.org/obo/MONDO_0021118 node EFO_0004242 obsessive-compulsive disorder null http://www.ebi.ac.uk/efo/EFO_0004242 node MONDO_0024493 tumor grade 3, general grading system null http://purl.obolibrary.org/obo/MONDO_0024493 node Orphanet_2181 Hydrocephaly - tall stature - joint laxity null http://www.orpha.net/ORDO/Orphanet_2181 node HP_0410049 Abnormality of radial ray An abnormality of the radial ray; the thumb bones and 1st meta carpel. http://purl.obolibrary.org/obo/HP_0410049 node PATO_0001374 ploidy The number of single sets of chromosomes in the cell or an organism e.g., haploid, diploid, triploid, etc. http://purl.obolibrary.org/obo/PATO_0001374 node NCBITaxon_5128 Gibberella pulicaris null http://purl.obolibrary.org/obo/NCBITaxon_5128 node EFO_0010406 triacylglycerol 48:3 measurement null http://www.ebi.ac.uk/efo/EFO_0010406 node EFO_0007717 carotid artery geometry measurement null http://www.ebi.ac.uk/efo/EFO_0007717 node EFO_0006688 NCI-H2804 null http://www.ebi.ac.uk/efo/EFO_0006688 node Orphanet_2535 Microcornea - corectopia - macular hypoplasia null http://www.orpha.net/ORDO/Orphanet_2535 node NCBITaxon_160492 Xylella fastidiosa 9a5c null http://purl.obolibrary.org/obo/NCBITaxon_160492 node EFO_0004125 growth hormone-secreting pituitary adenoma null http://www.ebi.ac.uk/efo/EFO_0004125 node Orphanet_371861 Genetic hyperaldosteronism null http://www.orpha.net/ORDO/Orphanet_371861 node MONDO_0001798 hypermobility syndrome null http://purl.obolibrary.org/obo/MONDO_0001798 node Orphanet_99776 Mosaic trisomy 9 null http://www.orpha.net/ORDO/Orphanet_99776 node EFO_0010200 sample barcode null http://www.ebi.ac.uk/efo/EFO_0010200 node NCBITaxon_4236 Lactuca sativa null http://purl.obolibrary.org/obo/NCBITaxon_4236 node CHEBI_15930 atrazine null http://purl.obolibrary.org/obo/CHEBI_15930 node Orphanet_309810 Disorder of peroxisomal alpha-, beta- and omega-oxidation null http://www.orpha.net/ORDO/Orphanet_309810 node Orphanet_156202 Otomandibular dysplasia associated with monogenic syndromes null http://www.orpha.net/ORDO/Orphanet_156202 node EFO_0007618 hearing threshold measurement null http://www.ebi.ac.uk/efo/EFO_0007618 node CLO_0016601 GM17761 null http://purl.obolibrary.org/obo/CLO_0016601 node MONDO_0032909 mitochondrial complex 3 deficiency, nuclear type 10 null http://purl.obolibrary.org/obo/MONDO_0032909 node NCBITaxon_5022 Leptosphaeria maculans null http://purl.obolibrary.org/obo/NCBITaxon_5022 node NCBITaxon_1961 Streptomyces virginiae null http://purl.obolibrary.org/obo/NCBITaxon_1961 node Orphanet_735 Porokeratosis of Mibelli null http://www.orpha.net/ORDO/Orphanet_735 node UO_0000274 microgram per milliliter null http://purl.obolibrary.org/obo/UO_0000274 node Orphanet_280553 Fatal infantile hypertonic myofibrillar myopathy null http://www.orpha.net/ORDO/Orphanet_280553 node CL_0002507 langerin-positive lymph node dendritic cell null http://purl.obolibrary.org/obo/CL_0002507 node EFO_0007839 CAROLI/EiJ null http://www.ebi.ac.uk/efo/EFO_0007839 node EFO_0009098 cognitive domain measurement null http://www.ebi.ac.uk/efo/EFO_0009098 node EFO_0010101 decreased susceptibility to hepatitis C infection null http://www.ebi.ac.uk/efo/EFO_0010101 node EFO_0007280 gastrointestinal tuberculosis null http://www.ebi.ac.uk/efo/EFO_0007280 node CL_0002412 Vgamma1.1-positive, Vdelta6.3-positive thymocyte null http://purl.obolibrary.org/obo/CL_0002412 node CHEBI_50112 sex hormone null http://purl.obolibrary.org/obo/CHEBI_50112 node EFO_0007149 appendicitis null http://www.ebi.ac.uk/efo/EFO_0007149 node Orphanet_79383 Lymphedema null http://www.orpha.net/ORDO/Orphanet_79383 node MONDO_0001104 toxic diffuse goiter null http://purl.obolibrary.org/obo/MONDO_0001104 node NCBITaxon_10096 Mus spretus null http://purl.obolibrary.org/obo/NCBITaxon_10096 node Orphanet_79196 Disorder of the gamma-glutamyl cycle Editor note: request from GO http://www.orpha.net/ORDO/Orphanet_79196 node Orphanet_823 Isolated spina bifida null http://www.orpha.net/ORDO/Orphanet_823 node EFO_0005063 nylon substrate null http://www.ebi.ac.uk/efo/EFO_0005063 node CL_0001067 group 1 innate lymphoid cell null http://purl.obolibrary.org/obo/CL_0001067 node GO_0060087 relaxation of vascular smooth muscle null http://purl.obolibrary.org/obo/GO_0060087 node CHEBI_82942 4-(acetylamino)-3-hydroxyphenyl hydrogen sulfate null http://purl.obolibrary.org/obo/CHEBI_82942 node EFO_0009186 platelet larger cell ratio null http://www.ebi.ac.uk/efo/EFO_0009186 node UO_0000175 gram per liter null http://purl.obolibrary.org/obo/UO_0000175 node Orphanet_207063 Qualitative or quantitative defects of beta-sarcoglycan null http://www.orpha.net/ORDO/Orphanet_207063 node EFO_0007237 dipetalonemiasis Editor note: check taxonomy; Acanthocheilonema perstans and Dipetalonema perstans appear to be synonyms http://www.ebi.ac.uk/efo/EFO_0007237 node Orphanet_140966 Palmoplantar keratoderma, Nagashima type null http://www.orpha.net/ORDO/Orphanet_140966 node HP_0005532 Macrocytic dyserythropoietic anemia null http://purl.obolibrary.org/obo/HP_0005532 node Orphanet_371176 Congenital disorder of glycosylation with dilated cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_371176 node Orphanet_331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells null http://www.orpha.net/ORDO/Orphanet_331232 node HP_0032141 Precordial pain null http://purl.obolibrary.org/obo/HP_0032141 node MONDO_0004885 choroidal sclerosis null http://purl.obolibrary.org/obo/MONDO_0004885 node Orphanet_141118 Nasal encephalocele null http://www.orpha.net/ORDO/Orphanet_141118 node GO_0005819 spindle null http://purl.obolibrary.org/obo/GO_0005819 node MONDO_0004698 intestine carcinoma in situ null http://purl.obolibrary.org/obo/MONDO_0004698 node Orphanet_306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature null http://www.orpha.net/ORDO/Orphanet_306759 node EFO_1001802 isolated noncompaction of the ventricular myocardium null http://www.ebi.ac.uk/efo/EFO_1001802 node EFO_0005751 eye allergy null http://www.ebi.ac.uk/efo/EFO_0005751 node EFO_0004824 obsolete_behavior or behavioral disorder measurement null http://www.ebi.ac.uk/efo/EFO_0004824 node EFO_0000934 obsolete_lung null http://www.ebi.ac.uk/efo/EFO_0000934 node EFO_0003161 obsolete_Han Chinese null http://www.ebi.ac.uk/efo/EFO_0003161 node EFO_0001926 obsolete_gynoecium null http://www.ebi.ac.uk/efo/EFO_0001926 node MONDO_0044349 acquired hemoglobinopathy null http://purl.obolibrary.org/obo/MONDO_0044349 node EFO_1001438 Trematode Infections null http://www.ebi.ac.uk/efo/EFO_1001438 node HP_0004386 Gastrointestinal inflammation null http://purl.obolibrary.org/obo/HP_0004386 node EFO_0000067 CS57706 null http://www.ebi.ac.uk/efo/EFO_0000067 node Orphanet_1581 Non-distal monosomy 10q null http://www.orpha.net/ORDO/Orphanet_1581 node EFO_0001180 HCC38 null http://www.ebi.ac.uk/efo/EFO_0001180 node CHEBI_53049 1-fluoro-2,4-dinitrobenzene null http://purl.obolibrary.org/obo/CHEBI_53049 node CL_0002009 macrophage dendritic cell progenitor null http://purl.obolibrary.org/obo/CL_0002009 node Orphanet_98913 Postsynaptic congenital myasthenic syndromes null http://www.orpha.net/ORDO/Orphanet_98913 node EFO_0004792 plasminogen activator inhibitor 1 measurement null http://www.ebi.ac.uk/efo/EFO_0004792 node EFO_0004912 serum IgA measurement null http://www.ebi.ac.uk/efo/EFO_0004912 node EFO_0000541 immunoprecipitate null http://www.ebi.ac.uk/efo/EFO_0000541 node Orphanet_319504 Combined oxidative phosphorylation defect type 8 null http://www.orpha.net/ORDO/Orphanet_319504 node MONDO_0016749 tumor of cranial and spinal nerves null http://purl.obolibrary.org/obo/MONDO_0016749 node EFO_1001222 type III hypersensitivity reaction disease null http://www.ebi.ac.uk/efo/EFO_1001222 node EFO_0003688 obsolete_floor plate neural tube null http://www.ebi.ac.uk/efo/EFO_0003688 node MONDO_0014353 PGM3-CDG null http://purl.obolibrary.org/obo/MONDO_0014353 node EFO_0010282 gastrointestinal disease null http://www.ebi.ac.uk/efo/EFO_0010282 node FBbt_00005608 embryonic proventriculus inner layer null http://purl.obolibrary.org/obo/FBbt_00005608 node EFO_0010095 non-grapefruit juice consumption measurement null http://www.ebi.ac.uk/efo/EFO_0010095 node EFO_0000155 CS57876 null http://www.ebi.ac.uk/efo/EFO_0000155 node EFO_0010680 hematoma null http://www.ebi.ac.uk/efo/EFO_0010680 node Orphanet_261652 Kleefstra syndrome due to a point mutation null http://www.orpha.net/ORDO/Orphanet_261652 node Orphanet_139471 Microphthalmia with brain and digit anomalies null http://www.orpha.net/ORDO/Orphanet_139471 node EFO_0002064 ITM-ST null http://www.ebi.ac.uk/efo/EFO_0002064 node NCBITaxon_2157 Archaea null http://purl.obolibrary.org/obo/NCBITaxon_2157 node Orphanet_353320 Pyruvate carboxylase deficiency, benign type null http://www.orpha.net/ORDO/Orphanet_353320 node MONDO_0045070 digestive system melanoma null http://purl.obolibrary.org/obo/MONDO_0045070 node EFO_1001310 Encephalitis, Varicella Zoster null http://www.ebi.ac.uk/efo/EFO_1001310 node EFO_0004693 obsolete_fetal hemoglobin measurement null http://www.ebi.ac.uk/efo/EFO_0004693 node EFO_1000086 Angiomatous Meningioma null http://www.ebi.ac.uk/efo/EFO_1000086 node Orphanet_89841 Centripetalis recessive dystrophic epidermolysis bullosa null http://www.orpha.net/ORDO/Orphanet_89841 node Orphanet_217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A null http://www.orpha.net/ORDO/Orphanet_217055 node EFO_0010183 single cell library construction null http://www.ebi.ac.uk/efo/EFO_0010183 node UBERON_0002037 cerebellum null http://purl.obolibrary.org/obo/UBERON_0002037 node CL_0000081 blood cell null http://purl.obolibrary.org/obo/CL_0000081 node HP_0001269 Hemiparesis null http://purl.obolibrary.org/obo/HP_0001269 node MONDO_0021375 tumor of duodenum null http://purl.obolibrary.org/obo/MONDO_0021375 node CLO_0014411 GM17241 null http://purl.obolibrary.org/obo/CLO_0014411 node HP_0009748 Large earlobe All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. Lobe size increases throughout adulthood. http://purl.obolibrary.org/obo/HP_0009748 node NCBITaxon_243231 Geobacter sulfurreducens PCA null http://purl.obolibrary.org/obo/NCBITaxon_243231 node NCBITaxon_1890 Streptomyces antibioticus null http://purl.obolibrary.org/obo/NCBITaxon_1890 node EFO_0005341 GM12868 null http://www.ebi.ac.uk/efo/EFO_0005341 node EFO_0006952 cytotoxicity measurement null http://www.ebi.ac.uk/efo/EFO_0006952 node CHEBI_22333 alkylating agent role null http://purl.obolibrary.org/obo/CHEBI_22333 node EFO_0005154 Landsberg ecotype null http://www.ebi.ac.uk/efo/EFO_0005154 node EFO_0009967 ligation-mediated chromosome conformation capture assay null http://www.ebi.ac.uk/efo/EFO_0009967 node Orphanet_85199 Craniosynostosis - anal anomalies - porokeratosis null http://www.orpha.net/ORDO/Orphanet_85199 node Orphanet_169799 Mild hemophilia B null http://www.orpha.net/ORDO/Orphanet_169799 node Orphanet_262201 Partial duplication of chromosome 3 null http://www.orpha.net/ORDO/Orphanet_262201 node CL_0002477 adipose macrophage null http://purl.obolibrary.org/obo/CL_0002477 node EFO_0005242 methamphetamine-induced psychosis null http://www.ebi.ac.uk/efo/EFO_0005242 node Orphanet_85287 X-linked intellectual disability, Siderius type null http://www.orpha.net/ORDO/Orphanet_85287 node Orphanet_254528 Maternal 14q32.2 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_254528 node EFO_0007309 Herpesviridae infectious disease null http://www.ebi.ac.uk/efo/EFO_0007309 node Orphanet_2042 Tracheo-esophageal fistula - hypospadias null http://www.orpha.net/ORDO/Orphanet_2042 node MONDO_0003060 biliary tract cancer null http://purl.obolibrary.org/obo/MONDO_0003060 node Orphanet_3078 Severe X-linked intellectual disability, Gustavson type null http://www.orpha.net/ORDO/Orphanet_3078 node CHEBI_28201 rotenone null http://purl.obolibrary.org/obo/CHEBI_28201 node EFO_0007890 pericardial adipose tissue measurement null http://www.ebi.ac.uk/efo/EFO_0007890 node NCBITaxon_8932 Columba livia null http://purl.obolibrary.org/obo/NCBITaxon_8932 node Orphanet_317425 Severe combined immunodeficiency due to DNA-PKcs deficiency null http://www.orpha.net/ORDO/Orphanet_317425 node MONDO_0000162 autoimmune thyroid disease, susceptibility to null http://purl.obolibrary.org/obo/MONDO_0000162 node NCBITaxon_171101 Streptococcus pneumoniae R6 null http://purl.obolibrary.org/obo/NCBITaxon_171101 node MONDO_0030061 periventricular nodular heterotopia 9 null http://purl.obolibrary.org/obo/MONDO_0030061 node Orphanet_101070 Bilateral frontoparietal polymicrogyria null http://www.orpha.net/ORDO/Orphanet_101070 node MONDO_0002847 skeletal muscle cancer null http://purl.obolibrary.org/obo/MONDO_0002847 node Orphanet_90674 Isolated thyroid-stimulating hormone deficiency null http://www.orpha.net/ORDO/Orphanet_90674 node EFO_0002469 obsolete_paraventricular nucleus null http://www.ebi.ac.uk/efo/EFO_0002469 node UBERON_0007284 presumptive neural plate null http://purl.obolibrary.org/obo/UBERON_0007284 node CLO_0013886 GM17214 null http://purl.obolibrary.org/obo/CLO_0013886 node Orphanet_1993 Pai syndrome null http://www.orpha.net/ORDO/Orphanet_1993 node EFO_0009263 nicotine withdrawal symptom count null http://www.ebi.ac.uk/efo/EFO_0009263 node Orphanet_2130 Hemimelia null http://www.orpha.net/ORDO/Orphanet_2130 node Orphanet_86919 Keratosis palmaris et plantaris - clinodactyly null http://www.orpha.net/ORDO/Orphanet_86919 node EFO_0008722 Drop-seq null http://www.ebi.ac.uk/efo/EFO_0008722 node MONDO_0015880 syndromic diaphragmatic or thoracic malformation null http://purl.obolibrary.org/obo/MONDO_0015880 node MONDO_0014763 Bombay phenotype null http://purl.obolibrary.org/obo/MONDO_0014763 node CHEBI_35475 non-steroidal anti-inflammatory drug null http://purl.obolibrary.org/obo/CHEBI_35475 node BTO_0001384 tissue culture null http://purl.obolibrary.org/obo/BTO_0001384 node NCBITaxon_28284 Human adenovirus 40 null http://purl.obolibrary.org/obo/NCBITaxon_28284 node EFO_0003661 obsolete_branchiostegal ray 1 null http://www.ebi.ac.uk/efo/EFO_0003661 node Orphanet_3387 Isolated anterior cervical hypertrichosis null http://www.orpha.net/ORDO/Orphanet_3387 node EFO_0002557 pancreatic mesenchyme null http://www.ebi.ac.uk/efo/EFO_0002557 node HP_0000414 Bulbous nose This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip. http://purl.obolibrary.org/obo/HP_0000414 node Orphanet_3224 Deafness - genital anomalies - metacarpal and metatarsal synostosis null http://www.orpha.net/ORDO/Orphanet_3224 node EFO_0009351 Anti-varicella zoster virus IgG measurement null http://www.ebi.ac.uk/efo/EFO_0009351 node Orphanet_289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency null http://www.orpha.net/ORDO/Orphanet_289290 node EFO_1000860 cerebral atherosclerosis null http://www.ebi.ac.uk/efo/EFO_1000860 node EFO_0001984 obsolete_rosette leaf null http://www.ebi.ac.uk/efo/EFO_0001984 node NCBITaxon_340 Xanthomonas campestris pv. campestris null http://purl.obolibrary.org/obo/NCBITaxon_340 node EFO_0008810 middRAD null http://www.ebi.ac.uk/efo/EFO_0008810 node EFO_0009572 uterine inflammatory disease null http://www.ebi.ac.uk/efo/EFO_0009572 node UBERON_2001062 presumptive mesencephalic artery null http://purl.obolibrary.org/obo/UBERON_2001062 node EFO_0000625 nevus null http://www.ebi.ac.uk/efo/EFO_0000625 node UBERON_2005010 mid cerebral vein null http://purl.obolibrary.org/obo/UBERON_2005010 node Orphanet_93455 Patellar dysostosis null http://www.orpha.net/ORDO/Orphanet_93455 node EFO_0003562 obsolete_telencephalic ventricle null http://www.ebi.ac.uk/efo/EFO_0003562 node EFO_0008307 tuberculin skin test reactivity measurement null http://www.ebi.ac.uk/efo/EFO_0008307 node UBERON_0000319 cytotrophoblast null http://purl.obolibrary.org/obo/UBERON_0000319 node HP_0009027 Foot dorsiflexor weakness Dorsiflexion of the foot extends the foot superiorly, as if taking the foot off the gas pedal. http://purl.obolibrary.org/obo/HP_0009027 node EFO_0003970 mouse erythroleukemia cell null http://www.ebi.ac.uk/efo/EFO_0003970 node Orphanet_582 Mucopolysaccharidosis type 4 null http://www.orpha.net/ORDO/Orphanet_582 node UO_0000036 year null http://purl.obolibrary.org/obo/UO_0000036 node EFO_1000761 scalp dermatosis null http://www.ebi.ac.uk/efo/EFO_1000761 node EFO_1001100 peritoneal neoplasm null http://www.ebi.ac.uk/efo/EFO_1001100 node EFO_0005530 Trypanosoma cruzi seropositivity null http://www.ebi.ac.uk/efo/EFO_0005530 node EFO_0004603 metatranscriptomic data null http://www.ebi.ac.uk/efo/EFO_0004603 node EFO_0001401 obsolete_tonsil null http://www.ebi.ac.uk/efo/EFO_0001401 node EFO_0000232 adenoma Editor note: check status re benign http://www.ebi.ac.uk/efo/EFO_0000232 node EFO_0009660 anus disease null http://www.ebi.ac.uk/efo/EFO_0009660 node EFO_0000713 subarachnoid hemorrhage null http://www.ebi.ac.uk/efo/EFO_0000713 node EFO_0005343 GM12870 null http://www.ebi.ac.uk/efo/EFO_0005343 node Orphanet_211062 Hereditary episodic ataxia null http://www.orpha.net/ORDO/Orphanet_211062 node CL_0000398 polygonal cell null http://purl.obolibrary.org/obo/CL_0000398 node EFO_0004394 Theiler stage 2 null http://www.ebi.ac.uk/efo/EFO_0004394 node EFO_0003948 gastroesophageal reflux disease null http://www.ebi.ac.uk/efo/EFO_0003948 node NCBITaxon_188704 Enteromyxum leei null http://purl.obolibrary.org/obo/NCBITaxon_188704 node CL_0000879 meningeal macrophage null http://purl.obolibrary.org/obo/CL_0000879 node TO_0000259 heat tolerance null http://purl.obolibrary.org/obo/TO_0000259 node NCBITaxon_9548 Macaca radiata null http://purl.obolibrary.org/obo/NCBITaxon_9548 node EFO_0003853 respiratory system neoplasm null http://www.ebi.ac.uk/efo/EFO_0003853 node HP_0001710 Conotruncal defect null http://purl.obolibrary.org/obo/HP_0001710 node HP_0010511 Long toe This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. If only a subset of the digits of a limb is lengthened, the affected digits should be specified. http://purl.obolibrary.org/obo/HP_0010511 node EFO_0003163 obsolete_Irish null http://www.ebi.ac.uk/efo/EFO_0003163 node EFO_1001001 obsolete_keratoconjunctivitis sicca null http://www.ebi.ac.uk/efo/EFO_1001001 node PO_0007109 SE.99 maximum stem length reached stage A measure of vegetative growth, but leaf production is to be preferred. http://purl.obolibrary.org/obo/PO_0007109 node EFO_0001302 juvenile days 45-89 null http://www.ebi.ac.uk/efo/EFO_0001302 node MONDO_0000931 endometrial disease null http://purl.obolibrary.org/obo/MONDO_0000931 node EFO_0005431 illegal drug consumption null http://www.ebi.ac.uk/efo/EFO_0005431 node CHEBI_73699 Val-Gly null http://purl.obolibrary.org/obo/CHEBI_73699 node Orphanet_398934 Malignant epithelial tumor of ovary Editor note: check inference with carcinoma http://www.orpha.net/ORDO/Orphanet_398934 node EFO_0001125 GM11993 null http://www.ebi.ac.uk/efo/EFO_0001125 node Orphanet_1899 Ehlers-Danlos syndrome, arthrochalasic type null http://www.orpha.net/ORDO/Orphanet_1899 node MONDO_0004647 in situ carcinoma Editor note: check pre-malignant vs malignant http://purl.obolibrary.org/obo/MONDO_0004647 node GO_0030312 external encapsulating structure null http://purl.obolibrary.org/obo/GO_0030312 node Orphanet_163654 Spondyloepiphyseal dysplasia, Cantu type null http://www.orpha.net/ORDO/Orphanet_163654 node GO_0030135 coated vesicle null http://purl.obolibrary.org/obo/GO_0030135 node MONDO_0004033 familial ovarian carcinoma null http://purl.obolibrary.org/obo/MONDO_0004033 node Orphanet_100976 Bathing suit ichthyosis null http://www.orpha.net/ORDO/Orphanet_100976 node GO_0097335 response to quetiapine null http://purl.obolibrary.org/obo/GO_0097335 node EFO_0004338 body weight null http://www.ebi.ac.uk/efo/EFO_0004338 node EFO_0010005 DR-Seq null http://www.ebi.ac.uk/efo/EFO_0010005 node CHEBI_17252 17alpha-hydroxyprogesterone null http://purl.obolibrary.org/obo/CHEBI_17252 node PO_0020136 ear inflorescence null http://purl.obolibrary.org/obo/PO_0020136 node CHEBI_91067 sphingomyelin 24:0 null http://purl.obolibrary.org/obo/CHEBI_91067 node EFO_0005601 abdominal aortic raised atherosclerotic lesion null http://www.ebi.ac.uk/efo/EFO_0005601 node CL_0002532 CD16-positive myeloid dendritic cell Normally represent 65-75% of peripheral blood mDCs (human). They are also CD281-positive (TLR1), CD282-positive (TLR2), CD284-positive (TLR4), CD285-positive (TLR5), CD286-positive (TLR6), CD288-positive (TLR8), CD289-positive (TLR9), and CD290-positive (TLR10) by RT-PCR [PMID:17332250]. Upon TLR stimulation, these cells are potent producers of TNF-alpha, while producing little CXCL8 (IL8). http://purl.obolibrary.org/obo/CL_0002532 node EFO_0010707 trans-3-hydroxycotinine measurement null http://www.ebi.ac.uk/efo/EFO_0010707 node MONDO_0040500 glycosylphosphatidylinositol biosynthesis defect 16 null http://purl.obolibrary.org/obo/MONDO_0040500 node CL_0002355 primitive red blood cell null http://purl.obolibrary.org/obo/CL_0002355 node MONDO_0045048 toxemia of pregnancy null http://purl.obolibrary.org/obo/MONDO_0045048 node EFO_0004426 karyotype null http://www.ebi.ac.uk/efo/EFO_0004426 node CHEBI_73707 gamma-Glu-Gln null http://purl.obolibrary.org/obo/CHEBI_73707 node EFO_0004239 chronic hepatitis B virus infection null http://www.ebi.ac.uk/efo/EFO_0004239 node EFO_0007085 HUES53 null http://www.ebi.ac.uk/efo/EFO_0007085 node NCBITaxon_10088 Mus null http://purl.obolibrary.org/obo/NCBITaxon_10088 node CHEBI_68434 gamma-Glu-Ile null http://purl.obolibrary.org/obo/CHEBI_68434 node EFO_0008974 Tomo-Seq null http://www.ebi.ac.uk/efo/EFO_0008974 node MONDO_0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome null http://purl.obolibrary.org/obo/MONDO_0008278 node NCBITaxon_171960 Vitis sp. cv. 'Norton' null http://purl.obolibrary.org/obo/NCBITaxon_171960 node EFO_0006544 bladder transitional cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0006544 node Orphanet_2220 Hypertrichosis cubiti - short stature null http://www.orpha.net/ORDO/Orphanet_2220 node NCBITaxon_218196 Moniezia benedeni null http://purl.obolibrary.org/obo/NCBITaxon_218196 node EFO_0010608 stromelysin‐1 measurement null http://www.ebi.ac.uk/efo/EFO_0010608 node EFO_0007173 Blastocystis hominis infectious disease null http://www.ebi.ac.uk/efo/EFO_0007173 node MONDO_0002460 lacrimal system cancer null http://purl.obolibrary.org/obo/MONDO_0002460 node MONDO_0007849 keratitis fugax hereditaria null http://purl.obolibrary.org/obo/MONDO_0007849 node MONDO_0002924 smooth muscle cancer null http://purl.obolibrary.org/obo/MONDO_0002924 node HP_0002007 Frontal bossing This is not the same as prominent forehead. http://purl.obolibrary.org/obo/HP_0002007 node EFO_0007581 blood manganese measurement null http://www.ebi.ac.uk/efo/EFO_0007581 node EFO_0006632 KYSE-520 null http://www.ebi.ac.uk/efo/EFO_0006632 node MONDO_0003079 mastocytoma null http://purl.obolibrary.org/obo/MONDO_0003079 node EFO_0008875 Pu-seq null http://www.ebi.ac.uk/efo/EFO_0008875 node Orphanet_295207 Humero-radio-ulnar synostosis, bilateral null http://www.orpha.net/ORDO/Orphanet_295207 node MONDO_0000358 orofacial cleft Editor notes: most subtypes are isolated http://purl.obolibrary.org/obo/MONDO_0000358 node EFO_0007394 neuroschistosomiasis null http://www.ebi.ac.uk/efo/EFO_0007394 node MONDO_0024813 pulmonary sulcus neoplasm null http://purl.obolibrary.org/obo/MONDO_0024813 node ZFA_0001269 regenerating fin null http://purl.obolibrary.org/obo/ZFA_0001269 node EFO_0006316 infant expressive language ability null http://www.ebi.ac.uk/efo/EFO_0006316 node HP_0007716 Uveal melanoma WIth intraocular melanoma, the melanoma originates from melanocytic cells in the uveal layer, comprising the iris, ciliary body, and choroid. http://purl.obolibrary.org/obo/HP_0007716 node NCBITaxon_388919 Streptococcus sanguinis SK36 null http://purl.obolibrary.org/obo/NCBITaxon_388919 node MONDO_0024636 inflammation of heart layer null http://purl.obolibrary.org/obo/MONDO_0024636 node EFO_0001384 obsolete_prefrontal cortex null http://www.ebi.ac.uk/efo/EFO_0001384 node EFO_0009435 arthritis disease activity score measurement null http://www.ebi.ac.uk/efo/EFO_0009435 node EFO_0006714 OCUM-1 null http://www.ebi.ac.uk/efo/EFO_0006714 node EFO_0009916 ATP binding cassette subfamily B member 6 null http://www.ebi.ac.uk/efo/EFO_0009916 node CHEBI_25435 mutagen null http://purl.obolibrary.org/obo/CHEBI_25435 node GO_0051384 response to glucocorticoid null http://purl.obolibrary.org/obo/GO_0051384 node HP_0002370 Poor coordination null http://purl.obolibrary.org/obo/HP_0002370 node MONDO_0001444 Chagas disease null http://purl.obolibrary.org/obo/MONDO_0001444 node EFO_0003352 obsolete_foregut primordium null http://www.ebi.ac.uk/efo/EFO_0003352 node NCBITaxon_73824 Populus balsamifera null http://purl.obolibrary.org/obo/NCBITaxon_73824 node EFO_0007482 setariasis null http://www.ebi.ac.uk/efo/EFO_0007482 node Orphanet_2787 Osteoporosis - macrocephaly - blindness - joint hyperlaxity null http://www.orpha.net/ORDO/Orphanet_2787 node UO_0000126 derived temperature unit null http://purl.obolibrary.org/obo/UO_0000126 node EFO_0003165 obsolete_Korean null http://www.ebi.ac.uk/efo/EFO_0003165 node EFO_0009523 fecal incontinence null http://www.ebi.ac.uk/efo/EFO_0009523 node PO_0025279 megagametophyte Megagametophytes in bryophytes only produce egg cells, but do not develop from megaspores, because there is no heterospory in bryophytes. In some pteridophytes, megagametophytes develop from megaspores. In angiosperms, Gnetum, and Weltwischia, the megagametophyte is greatly reduced. The megagametophyte in angiosperms is an embryo sac. http://purl.obolibrary.org/obo/PO_0025279 node Orphanet_98645 Cerebral disease with cataract null http://www.orpha.net/ORDO/Orphanet_98645 node EFO_0006802 response to red blood cell transfusion null http://www.ebi.ac.uk/efo/EFO_0006802 node EFO_0001675 simian immunodeficiency virus infection null http://www.ebi.ac.uk/efo/EFO_0001675 node Orphanet_100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism null http://www.orpha.net/ORDO/Orphanet_100034 node Orphanet_397941 MAN1B1-CDG null http://www.orpha.net/ORDO/Orphanet_397941 node Orphanet_79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency null http://www.orpha.net/ORDO/Orphanet_79643 node Orphanet_2875 Phakomatosis pigmentovascularis null http://www.orpha.net/ORDO/Orphanet_2875 node CL_0001011 immature interstitial dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000024)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001011 node EFO_0010789 monocyte chemotactic protein-2 measurement null http://www.ebi.ac.uk/efo/EFO_0010789 node Orphanet_3027 Caudal regression sequence null http://www.orpha.net/ORDO/Orphanet_3027 node EFO_0009611 orbital fracture null http://www.ebi.ac.uk/efo/EFO_0009611 node Orphanet_98733 Noonan syndrome and Noonan-related syndrome null http://www.orpha.net/ORDO/Orphanet_98733 node Orphanet_1695 Non-distal trisomy 10q null http://www.orpha.net/ORDO/Orphanet_1695 node MONDO_0000111 camptodactyly syndrome, Guadalajara Text for OMIM 211910 includes 211920 and 611929 as other types. http://purl.obolibrary.org/obo/MONDO_0000111 node EFO_1001955 erythroleukemia null http://www.ebi.ac.uk/efo/EFO_1001955 node EFO_1000476 Pineocytoma null http://www.ebi.ac.uk/efo/EFO_1000476 node EFO_0007630 glycerophospholipid measurement null http://www.ebi.ac.uk/efo/EFO_0007630 node EFO_1000299 Hyperplastic Polyp null http://www.ebi.ac.uk/efo/EFO_1000299 node EFO_0010573 kallikrein-11 measurement null http://www.ebi.ac.uk/efo/EFO_0010573 node Orphanet_276264 Xeroderma pigmentosum complementation group F null http://www.orpha.net/ORDO/Orphanet_276264 node EFO_0010396 sphingomyelin 22:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010396 node EFO_0009212 Hemoglobin A2 to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009212 node Orphanet_238650 Congenital primary megaureter, refluxing form null http://www.orpha.net/ORDO/Orphanet_238650 node EFO_0004290 obsolete_sneezing null http://www.ebi.ac.uk/efo/EFO_0004290 node MONDO_0021637 low grade glioma null http://purl.obolibrary.org/obo/MONDO_0021637 node EFO_0010877 HG03354 null http://www.ebi.ac.uk/efo/EFO_0010877 node EFO_1001081 panophthalmitis null http://www.ebi.ac.uk/efo/EFO_1001081 node Orphanet_98616 Conjunctival tumor null http://www.orpha.net/ORDO/Orphanet_98616 node NCBITaxon_81970 Arabidopsis halleri null http://purl.obolibrary.org/obo/NCBITaxon_81970 node Orphanet_89937 Autosomal dominant hypophosphatemic rickets null http://www.orpha.net/ORDO/Orphanet_89937 node Orphanet_888 Van der Woude syndrome null http://www.orpha.net/ORDO/Orphanet_888 node Orphanet_1578 Dehydratase deficiency null http://www.orpha.net/ORDO/Orphanet_1578 node Orphanet_289380 Myosclerosis null http://www.orpha.net/ORDO/Orphanet_289380 node EFO_1001491 abortion null http://www.ebi.ac.uk/efo/EFO_1001491 node EFO_1000564 Testicular Choriocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000564 node EFO_1000401 Non-Seminomatous Lesion null http://www.ebi.ac.uk/efo/EFO_1000401 node EFO_0010661 neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures null http://www.ebi.ac.uk/efo/EFO_0010661 node EFO_0010456 allantoin measurement null http://www.ebi.ac.uk/efo/EFO_0010456 node EFO_0004994 lumbar disc degeneration null http://www.ebi.ac.uk/efo/EFO_0004994 node UBERON_0002289 midbrain cerebral aqueduct null http://purl.obolibrary.org/obo/UBERON_0002289 node EFO_0004789 atrial natriuretic factor measurement is about MSH:D017461 http://www.ebi.ac.uk/efo/EFO_0004789 node EFO_0009739 technician null http://www.ebi.ac.uk/efo/EFO_0009739 node EFO_0005836 S2-DRSC null http://www.ebi.ac.uk/efo/EFO_0005836 node NCBITaxon_137520 Hypomesus transpacificus null http://purl.obolibrary.org/obo/NCBITaxon_137520 node EFO_0003423 obsolete_presumptive forebrain null http://www.ebi.ac.uk/efo/EFO_0003423 node CHEBI_16393 sphingosine null http://purl.obolibrary.org/obo/CHEBI_16393 node Orphanet_24 Fumaric aciduria null http://www.orpha.net/ORDO/Orphanet_24 node EFO_0009300 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant null http://www.ebi.ac.uk/efo/EFO_0009300 node EFO_0010279 GIST-plus syndrome null http://www.ebi.ac.uk/efo/EFO_0010279 node EFO_0002319 RL null http://www.ebi.ac.uk/efo/EFO_0002319 node Orphanet_181390 Hypogonadotropic hypogonadism associated with other endocrinopathies null http://www.orpha.net/ORDO/Orphanet_181390 node UBERON_0007134 trunk ganglion null http://purl.obolibrary.org/obo/UBERON_0007134 node EFO_0009113 alcohol exposure measurement null http://www.ebi.ac.uk/efo/EFO_0009113 node EFO_0002248 NCI-H1048 null http://www.ebi.ac.uk/efo/EFO_0002248 node EFO_1000622 VIP-Producing Neuroendocrine Tumor null http://www.ebi.ac.uk/efo/EFO_1000622 node UBERON_0002073 hair follicle Development notes:Formation largely takes place during fetal and perinatal skin development. However, after skin wounding de novo hair follicle formation may also occur in adult mouse and rabbit skin[DOI:10.1016/j.cub.2008.12.005]. http://purl.obolibrary.org/obo/UBERON_0002073 node EFO_0004396 Theiler stage 4 null http://www.ebi.ac.uk/efo/EFO_0004396 node MONDO_0003225 bone marrow disease null http://purl.obolibrary.org/obo/MONDO_0003225 node EFO_0006796 very long-chain saturated fatty acid measurement null http://www.ebi.ac.uk/efo/EFO_0006796 node EFO_0003511 obsolete_mandibular muscle null http://www.ebi.ac.uk/efo/EFO_0003511 node HP_0006000 Ureteral obstruction null http://purl.obolibrary.org/obo/HP_0006000 node NCBITaxon_5506 Fusarium null http://purl.obolibrary.org/obo/NCBITaxon_5506 node Orphanet_89838 KRT14-related epidermolysis bullosa simplex null http://www.orpha.net/ORDO/Orphanet_89838 node EFO_0005681 Staphylococcus aureus infection null http://www.ebi.ac.uk/efo/EFO_0005681 node EFO_1000710 hidradenitis suppurativa null http://www.ebi.ac.uk/efo/EFO_1000710 node EFO_0008991 seqFISH null http://www.ebi.ac.uk/efo/EFO_0008991 node MONDO_0018396 rare male fertility disorder with obstructive azoospermia null http://purl.obolibrary.org/obo/MONDO_0018396 node Orphanet_250989 1q21.1 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_250989 node EFO_0006884 mouth mucous membrane leukoplakia null http://www.ebi.ac.uk/efo/EFO_0006884 node MONDO_0004900 peripheral vertigo null http://purl.obolibrary.org/obo/MONDO_0004900 node CHEBI_18262 dodecanoate null http://purl.obolibrary.org/obo/CHEBI_18262 node EFO_1001778 chromosome-defective micronuclei null http://www.ebi.ac.uk/efo/EFO_1001778 node EFO_0006697 NCI-H889 null http://www.ebi.ac.uk/efo/EFO_0006697 node Orphanet_60041 Congenital heart block null http://www.orpha.net/ORDO/Orphanet_60041 node CHEBI_49006 N-acetylcitrulline null http://purl.obolibrary.org/obo/CHEBI_49006 node MONDO_0100064 tyrosine hydroxylase deficiency null http://purl.obolibrary.org/obo/MONDO_0100064 node UO_0000195 degree fahrenheit null http://purl.obolibrary.org/obo/UO_0000195 node Orphanet_325546 Sex chromosome disorder of sex development null http://www.orpha.net/ORDO/Orphanet_325546 node EFO_0006949 wine liking measurement null http://www.ebi.ac.uk/efo/EFO_0006949 node Orphanet_96176 Ring chromosome 13 null http://www.orpha.net/ORDO/Orphanet_96176 node GO_0055062 phosphate ion homeostasis null http://purl.obolibrary.org/obo/GO_0055062 node MONDO_0000834 bone deterioration disease null http://purl.obolibrary.org/obo/MONDO_0000834 node MONDO_0008630 urinary bladder, atony of null http://purl.obolibrary.org/obo/MONDO_0008630 node Orphanet_137911 Autism - facial port-wine stain null http://www.orpha.net/ORDO/Orphanet_137911 node EFO_1002018 bronchial disease null http://www.ebi.ac.uk/efo/EFO_1002018 node HP_0040223 Pulmonary hemorrhage null http://purl.obolibrary.org/obo/HP_0040223 node MONDO_0100152 DKC1-related disorder null http://purl.obolibrary.org/obo/MONDO_0100152 node Orphanet_83420 Proximal spinal muscular atrophy type 4 null http://www.orpha.net/ORDO/Orphanet_83420 node EFO_0004018 spontaneous mutation null http://www.ebi.ac.uk/efo/EFO_0004018 node EFO_0007345 lipid pneumonia null http://www.ebi.ac.uk/efo/EFO_0007345 node Orphanet_227796 Fundus albipunctatus null http://www.orpha.net/ORDO/Orphanet_227796 node Orphanet_96264 49,XXXXY syndrome null http://www.orpha.net/ORDO/Orphanet_96264 node FBbt_00005546 labral sensory complex primordium null http://purl.obolibrary.org/obo/FBbt_00005546 node Orphanet_79188 Peroxisomal beta-oxidation disorder null http://www.orpha.net/ORDO/Orphanet_79188 node CHEBI_18422 sulphur dioxide null http://purl.obolibrary.org/obo/CHEBI_18422 node NCBITaxon_129394 Xanthomonas oryzae pv. oryzicola null http://purl.obolibrary.org/obo/NCBITaxon_129394 node EFO_0007433 phagocyte bactericidal dysfunction Editor note: consider merging http://www.ebi.ac.uk/efo/EFO_0007433 node GO_0051181 cofactor transport null http://purl.obolibrary.org/obo/GO_0051181 node EFO_0007246 echinostomiasis null http://www.ebi.ac.uk/efo/EFO_0007246 node Orphanet_183521 Rare genetic movement disorder null http://www.orpha.net/ORDO/Orphanet_183521 node MONDO_0030058 deafness, autosomal dominant 77 null http://purl.obolibrary.org/obo/MONDO_0030058 node EFO_0007034 seropositivity measurement null http://www.ebi.ac.uk/efo/EFO_0007034 node CLO_0029732 ND00051 null http://purl.obolibrary.org/obo/CLO_0029732 node Orphanet_268357 Neural tube closure defect null http://www.orpha.net/ORDO/Orphanet_268357 node EFO_1001797 Hemoglobin SC Disease null http://www.ebi.ac.uk/efo/EFO_1001797 node Orphanet_2952 Adducted thumbs - arthrogryposis, Christian type null http://www.orpha.net/ORDO/Orphanet_2952 node Orphanet_320365 Autosomal dominant spastic paraplegia type 36 null http://www.orpha.net/ORDO/Orphanet_320365 node EFO_1000155 Cecum Villous Adenoma null http://www.ebi.ac.uk/efo/EFO_1000155 node Orphanet_93474 Scheie syndrome null http://www.orpha.net/ORDO/Orphanet_93474 node EFO_0003658 obsolete_blastema null http://www.ebi.ac.uk/efo/EFO_0003658 node EFO_0001245 SUM44PE null http://www.ebi.ac.uk/efo/EFO_0001245 node MONDO_0044971 disease of macromolecular complex null http://purl.obolibrary.org/obo/MONDO_0044971 node EFO_0000661 obsolete_polymorphonuclear leukocyte null http://www.ebi.ac.uk/efo/EFO_0000661 node EFO_0007122 Tae-Eum null http://www.ebi.ac.uk/efo/EFO_0007122 node Orphanet_678 Papillon-Lefèvre syndrome null http://www.orpha.net/ORDO/Orphanet_678 node EFO_0001068 malaria null http://www.ebi.ac.uk/efo/EFO_0001068 node Orphanet_2379 Early-onset parkinsonism - intellectual disability null http://www.orpha.net/ORDO/Orphanet_2379 node HP_0001338 Partial agenesis of the corpus callosum null http://purl.obolibrary.org/obo/HP_0001338 node Orphanet_3426 Double outlet right ventricle null http://www.orpha.net/ORDO/Orphanet_3426 node EFO_0005016 454 Sequencing null http://www.ebi.ac.uk/efo/EFO_0005016 node EFO_1000857 central pontine myelinolysis null http://www.ebi.ac.uk/efo/EFO_1000857 node EFO_0003879 obsolete_aortic valve null http://www.ebi.ac.uk/efo/EFO_0003879 node OBI_0600005 collecting specimen from organism null http://purl.obolibrary.org/obo/OBI_0600005 node NCBITaxon_1283 Staphylococcus haemolyticus null http://purl.obolibrary.org/obo/NCBITaxon_1283 node NCBITaxon_101202 Microsporum distortum null http://purl.obolibrary.org/obo/NCBITaxon_101202 node EFO_0008270 proprotein convertase subtilisin/kexin type 7 measurement null http://www.ebi.ac.uk/efo/EFO_0008270 node MONDO_0017658 hyperekplexia null http://purl.obolibrary.org/obo/MONDO_0017658 node CHEBI_85742 triacylglycerol 54:4 null http://purl.obolibrary.org/obo/CHEBI_85742 node EFO_0004597 obsolete_variant Creutzfeld Jacob disease null http://www.ebi.ac.uk/efo/EFO_0004597 node UBERON_2001059 cranial division of the internal carotid artery null http://purl.obolibrary.org/obo/UBERON_2001059 node EFO_0001333 obsolete_jejunum null http://www.ebi.ac.uk/efo/EFO_0001333 node Orphanet_358 Gitelman syndrome null http://www.orpha.net/ORDO/Orphanet_358 node CHEBI_16958 beta-alanine null http://purl.obolibrary.org/obo/CHEBI_16958 node NCBITaxon_204038 Dickeya dadantii null http://purl.obolibrary.org/obo/NCBITaxon_204038 node Orphanet_1170 Autosomal recessive cerebelloparenchymal disorder type 3 null http://www.orpha.net/ORDO/Orphanet_1170 node EFO_0001156 GM12813 null http://www.ebi.ac.uk/efo/EFO_0001156 node Orphanet_766 Hemolytic anemia due to red cell pyruvate kinase deficiency null http://www.orpha.net/ORDO/Orphanet_766 node EFO_0003967 vascular sarcoma null http://www.ebi.ac.uk/efo/EFO_0003967 node Orphanet_82 Hereditary thrombophilia due to congenital antithrombin deficiency null http://www.orpha.net/ORDO/Orphanet_82 node Orphanet_579 Mucopolysaccharidosis type 1 null http://www.orpha.net/ORDO/Orphanet_579 node HP_0002751 Kyphoscoliosis null http://purl.obolibrary.org/obo/HP_0002751 node HP_0001824 Weight loss null http://purl.obolibrary.org/obo/HP_0001824 node Orphanet_207104 Qualitative or quantitative defects of calpain Editor note: TODO request for IPR001300 http://www.orpha.net/ORDO/Orphanet_207104 node EFO_0003804 interleukin-21 (Mus musculus) null http://www.ebi.ac.uk/efo/EFO_0003804 node CL_0000940 mucosal invariant T cell null http://purl.obolibrary.org/obo/CL_0000940 node HP_0001647 Bicuspid aortic valve A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036]. http://purl.obolibrary.org/obo/HP_0001647 node Orphanet_294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy null http://www.orpha.net/ORDO/Orphanet_294959 node EFO_0005527 ejection fraction measurement null http://www.ebi.ac.uk/efo/EFO_0005527 node EFO_0008171 interleukin 13 measurement null http://www.ebi.ac.uk/efo/EFO_0008171 node EFO_0003114 obsolete_pauciarticular juvenile rheumatoid arthritis null http://www.ebi.ac.uk/efo/EFO_0003114 node EFO_0002806 obsolete_retroperitoneum null http://www.ebi.ac.uk/efo/EFO_0002806 node CHEBI_34648 clofibric acid null http://purl.obolibrary.org/obo/CHEBI_34648 node Orphanet_220448 Macrothrombocytopenia with mitral valve insufficiency null http://www.orpha.net/ORDO/Orphanet_220448 node CHEBI_17786 N-acetyl-L-leucine null http://purl.obolibrary.org/obo/CHEBI_17786 node CLO_0026399 ND00268 null http://purl.obolibrary.org/obo/CLO_0026399 node EFO_0009214 Hemoglobin Barts to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009214 node CLO_0013169 GM17263 null http://purl.obolibrary.org/obo/CLO_0013169 node EFO_0000877 obsolete_autopod null http://www.ebi.ac.uk/efo/EFO_0000877 node EFO_0009027 Bardet-Biedl syndrome 9 null http://www.ebi.ac.uk/efo/EFO_0009027 node EFO_1001083 papillary follicular thyroid adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1001083 node HANCESTRO_0016 African American or Afro-Caribbean null http://purl.obolibrary.org/obo/HANCESTRO_0016 node CLO_0013140 GM17290 null http://purl.obolibrary.org/obo/CLO_0013140 node Orphanet_306462 Congenital sucrase-isomaltase deficiency without starch intolerance null http://www.orpha.net/ORDO/Orphanet_306462 node MONDO_0023370 neoplastic disease or syndrome null http://purl.obolibrary.org/obo/MONDO_0023370 node EFO_0006961 Tossa de Mar ecotype null http://www.ebi.ac.uk/efo/EFO_0006961 node Orphanet_314721 Atypical dentin dysplasia due to SMOC2 deficiency null http://www.orpha.net/ORDO/Orphanet_314721 node EFO_0000484 obsolete_experiment type This is no longer needed - use process or study design (if the design is for study). http://www.ebi.ac.uk/efo/EFO_0000484 node EFO_0000965 obsolete_thorax null http://www.ebi.ac.uk/efo/EFO_0000965 node EFO_1001165 Schnitzler syndrome null http://www.ebi.ac.uk/efo/EFO_1001165 node Orphanet_94086 Blue diaper syndrome null http://www.orpha.net/ORDO/Orphanet_94086 node Orphanet_261826 Partial deletion of chromosome 16 null http://www.orpha.net/ORDO/Orphanet_261826 node Orphanet_231137 Silver-Russell syndrome due to 7p11.2p13 microduplication null http://www.orpha.net/ORDO/Orphanet_231137 node EFO_0009115 tobacco smoke exposure measurement null http://www.ebi.ac.uk/efo/EFO_0009115 node EFO_0000778 anthrax infection Editor note: DOID says skin disease but we suppress this as it would be identical to subclass skin anthrax http://www.ebi.ac.uk/efo/EFO_0000778 node Orphanet_306550 FADD-related immunodeficiency null http://www.orpha.net/ORDO/Orphanet_306550 node CL_0002469 MHC-II-negative classical monocyte null http://purl.obolibrary.org/obo/CL_0002469 node EFO_0004052 CB4853 null http://www.ebi.ac.uk/efo/EFO_0004052 node EFO_0010639 pain measurement null http://www.ebi.ac.uk/efo/EFO_0010639 node EFO_0010087 anti-meningococcal C serum bactericidal antibody measurement null http://www.ebi.ac.uk/efo/EFO_0010087 node CHEBI_15414 S-adenosyl-L-methionine null http://purl.obolibrary.org/obo/CHEBI_15414 node CHEBI_28285 oligomycin A null http://purl.obolibrary.org/obo/CHEBI_28285 node NCBITaxon_9361 Dasypus novemcinctus null http://purl.obolibrary.org/obo/NCBITaxon_9361 node EFO_0000572 lymphoblast null http://www.ebi.ac.uk/efo/EFO_0000572 node Orphanet_71528 Obesity due to prohormone convertase I deficiency null http://www.orpha.net/ORDO/Orphanet_71528 node EFO_1001253 maculopapular eruption null http://www.ebi.ac.uk/efo/EFO_1001253 node EFO_0005683 obsolete_plant callus null http://www.ebi.ac.uk/efo/EFO_0005683 node NCBITaxon_94328 Zingiber officinale null http://purl.obolibrary.org/obo/NCBITaxon_94328 node Orphanet_228190 Patent ductus arteriosus - bicuspid aortic valve - hand anomalies null http://www.orpha.net/ORDO/Orphanet_228190 node CL_0002529 CD1a-positive dermal dendritic cell Reside in the dermis. They are also CD11c-positive, CD40-positive, CD207-negative (langerin), CD209-negative (DC-SIGN), and CD324-negative (E-cadherin). When activated, they are capable of producing CXCL8 (IL-8) and IL-15. Possibly a precursor of Langerhans cells or equivalent of langerin-positive dermal DCs in the mouse. http://purl.obolibrary.org/obo/CL_0002529 node EFO_0008993 Ex-FISH null http://www.ebi.ac.uk/efo/EFO_0008993 node EFO_0007903 magnesium:calcium ratio null http://www.ebi.ac.uk/efo/EFO_0007903 node PATO_0000069 deviation(from_normal) null http://purl.obolibrary.org/obo/PATO_0000069 node MONDO_0030070 heterotaxy, visceral, 9, autosomal, with male infertility null http://purl.obolibrary.org/obo/MONDO_0030070 node CHEBI_55329 16-hydroxypalmitate null http://purl.obolibrary.org/obo/CHEBI_55329 node EFO_0010410 triacylglycerol 50:3 measurement null http://www.ebi.ac.uk/efo/EFO_0010410 node NCBITaxon_9685 Felis catus null http://purl.obolibrary.org/obo/NCBITaxon_9685 node NCBITaxon_2880 Ectocarpus siliculosus null http://purl.obolibrary.org/obo/NCBITaxon_2880 node Orphanet_98992 Partial congenital cataract null http://www.orpha.net/ORDO/Orphanet_98992 node EFO_0000896 obsolete_ventral nerve cord null http://www.ebi.ac.uk/efo/EFO_0000896 node EFO_0003025 acute megakaryoblastic leukaemia null http://www.ebi.ac.uk/efo/EFO_0003025 node EFO_0009680 pleural empyema null http://www.ebi.ac.uk/efo/EFO_0009680 node Orphanet_251380 Hereditary persistence of fetal hemoglobin - sickle cell disease null http://www.orpha.net/ORDO/Orphanet_251380 node Orphanet_2760 OSLAM syndrome null http://www.orpha.net/ORDO/Orphanet_2760 node MONDO_0015667 unclassified acute myeloid leukemia null http://purl.obolibrary.org/obo/MONDO_0015667 node Orphanet_247525 Citrullinemia type I null http://www.orpha.net/ORDO/Orphanet_247525 node HP_0020083 Furuncle null http://purl.obolibrary.org/obo/HP_0020083 node Orphanet_2440 Split hand-split foot malformation null http://www.orpha.net/ORDO/Orphanet_2440 node Orphanet_371428 Multicentric osteolysis-nodulosis-arthropathy spectrum null http://www.orpha.net/ORDO/Orphanet_371428 node EFO_0002893 choriocarcinoma Editor note: TODO check classification w.r.t carcinoma http://www.ebi.ac.uk/efo/EFO_0002893 node Orphanet_261791 Partial deletion of chromosome 6 null http://www.orpha.net/ORDO/Orphanet_261791 node EFO_0007843 nose morphology measurement null http://www.ebi.ac.uk/efo/EFO_0007843 node EFO_0006916 response to dalcetrapib null http://www.ebi.ac.uk/efo/EFO_0006916 node NCBITaxon_211586 Shewanella oneidensis MR-1 null http://purl.obolibrary.org/obo/NCBITaxon_211586 node HP_0000573 Retinal hemorrhage The type of retinal hemorrhage and its clinical appearance depends on its location within the retina. http://purl.obolibrary.org/obo/HP_0000573 node EFO_0003349 obsolete_visceral muscle primordium null http://www.ebi.ac.uk/efo/EFO_0003349 node HP_0040070 Abnormal upper limb bone morphology null http://purl.obolibrary.org/obo/HP_0040070 node MONDO_0004697 esophageal leukoplakia (disease) null http://purl.obolibrary.org/obo/MONDO_0004697 node MONDO_0040678 infiltrating urothelial carcinoma null http://purl.obolibrary.org/obo/MONDO_0040678 node Orphanet_93921 Neurofibromatosis type 3 null http://www.orpha.net/ORDO/Orphanet_93921 node Orphanet_85110 Familial encephalopathy with neuroserpin inclusion bodies null http://www.orpha.net/ORDO/Orphanet_85110 node EFO_0008678 CATCH-seq null http://www.ebi.ac.uk/efo/EFO_0008678 node EFO_0002981 ILSXISS25/TejJ null http://www.ebi.ac.uk/efo/EFO_0002981 node UBERON_0007126 pharyngeal pouch 5 null http://purl.obolibrary.org/obo/UBERON_0007126 node Orphanet_640 Hereditary neuropathy with liability to pressure palsies null http://www.orpha.net/ORDO/Orphanet_640 node MONDO_0002633 cranial nerve neoplasm null http://purl.obolibrary.org/obo/MONDO_0002633 node EFO_0007726 AKR/J null http://www.ebi.ac.uk/efo/EFO_0007726 node Orphanet_2731 Taurodontia - absent teeth - sparse hair null http://www.orpha.net/ORDO/Orphanet_2731 node Orphanet_294971 Tetra-amelia null http://www.orpha.net/ORDO/Orphanet_294971 node EFO_0007036 herpes virus seropositivity null http://www.ebi.ac.uk/efo/EFO_0007036 node MONDO_0015175 autoimmune pancreatitis null http://purl.obolibrary.org/obo/MONDO_0015175 node CHEBI_64504 phosphatidylcholine 36:5 null http://purl.obolibrary.org/obo/CHEBI_64504 node MONDO_0002854 prostate sarcoma null http://purl.obolibrary.org/obo/MONDO_0002854 node Orphanet_93333 Pelviscapular dysplasia null http://www.orpha.net/ORDO/Orphanet_93333 node NCBITaxon_51631 Nucella lapillus null http://purl.obolibrary.org/obo/NCBITaxon_51631 node Orphanet_319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency null http://www.orpha.net/ORDO/Orphanet_319581 node EFO_0009712 father's age at death null http://www.ebi.ac.uk/efo/EFO_0009712 node Orphanet_95496 Pituitary stalk interruption syndrome null http://www.orpha.net/ORDO/Orphanet_95496 node UBERON_0000204 ventral part of telencephalon null http://purl.obolibrary.org/obo/UBERON_0000204 node EFO_0007814 refractive error measurement null http://www.ebi.ac.uk/efo/EFO_0007814 node Orphanet_139518 Distal hereditary motor neuropathy type 1 null http://www.orpha.net/ORDO/Orphanet_139518 node Orphanet_65759 Carpenter syndrome null http://www.orpha.net/ORDO/Orphanet_65759 node Orphanet_931 Acheiropodia ORDO/DO term http://www.orpha.net/ORDO/Orphanet_931 node NCBITaxon_272944 Rickettsia conorii str. Malish 7 null http://purl.obolibrary.org/obo/NCBITaxon_272944 node Orphanet_241 Dyschromatosis universalis null http://www.orpha.net/ORDO/Orphanet_241 node EFO_1000515 Salivary Gland Basal Cell Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000515 node EFO_0005391 LA-N-1 null http://www.ebi.ac.uk/efo/EFO_0005391 node EFO_0009294 CITE-seq null http://www.ebi.ac.uk/efo/EFO_0009294 node EFO_1000338 Lung Signet Ring Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000338 node EFO_0009800 number of cancers, self-reported null http://www.ebi.ac.uk/efo/EFO_0009800 node MONDO_0004705 liver solitary fibrous tumor null http://purl.obolibrary.org/obo/MONDO_0004705 node MONDO_0001300 autonomic neuropathy null http://purl.obolibrary.org/obo/MONDO_0001300 node NCBITaxon_176299 Agrobacterium tumefaciens str. C58 null http://purl.obolibrary.org/obo/NCBITaxon_176299 node UBERON_2000851 somite 12 null http://purl.obolibrary.org/obo/UBERON_2000851 node Orphanet_280219 Pelizaeus-Merzbacher disease, classic form null http://www.orpha.net/ORDO/Orphanet_280219 node UBERON_2000674 interopercle null http://purl.obolibrary.org/obo/UBERON_2000674 node EFO_0009613 fibula fracture null http://www.ebi.ac.uk/efo/EFO_0009613 node GO_1901556 response to candesartan awaiting import from GO http://purl.obolibrary.org/obo/GO_1901556 node EFO_0003607 obsolete_supraorbital lateral line neuromast null http://www.ebi.ac.uk/efo/EFO_0003607 node EFO_1000122 Benign Thyroid Gland Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000122 node NCBITaxon_203262 Epinephelus tauvina null http://purl.obolibrary.org/obo/NCBITaxon_203262 node EFO_0005299 non-word reading null http://www.ebi.ac.uk/efo/EFO_0005299 node CHEBI_9588 ticlopidine null http://purl.obolibrary.org/obo/CHEBI_9588 node EFO_0004347 addictive behaviour null http://www.ebi.ac.uk/efo/EFO_0004347 node Orphanet_181387 Rare disorder with hypogonadotropic hypogonadism null http://www.orpha.net/ORDO/Orphanet_181387 node EFO_1000806 angiomyoma null http://www.ebi.ac.uk/efo/EFO_1000806 node HP_0006114 Multiple palmar creases null http://purl.obolibrary.org/obo/HP_0006114 node HP_0002027 Abdominal pain Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. http://purl.obolibrary.org/obo/HP_0002027 node EFO_0009195 Pulmonary arterial hypertension associated with chronic hemolytic anemia null http://www.ebi.ac.uk/efo/EFO_0009195 node Orphanet_231214 Beta-thalassemia major null http://www.orpha.net/ORDO/Orphanet_231214 node EFO_0010903 anti-chlamydia trachomatis antibody measurement null http://www.ebi.ac.uk/efo/EFO_0010903 node EFO_1000619 Vaginal Melanoma null http://www.ebi.ac.uk/efo/EFO_1000619 node PO_0025022 collective leaf structure null http://purl.obolibrary.org/obo/PO_0025022 node HP_0001508 Failure to thrive Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). http://purl.obolibrary.org/obo/HP_0001508 node UBERON_0001529 brachiocephalic artery null http://purl.obolibrary.org/obo/UBERON_0001529 node UBERON_2001026 supraorbital lateral line neuromast null http://purl.obolibrary.org/obo/UBERON_2001026 node EFO_0004435 AB SOLiD System null http://www.ebi.ac.uk/efo/EFO_0004435 node EFO_0003508 obsolete_dentary null http://www.ebi.ac.uk/efo/EFO_0003508 node HP_0009487 Ulnar deviation of the hand null http://purl.obolibrary.org/obo/HP_0009487 node Orphanet_306768 Rare paroxysmal movement disorder null http://www.orpha.net/ORDO/Orphanet_306768 node EFO_0002508 Parkinson's disease null http://www.ebi.ac.uk/efo/EFO_0002508 node Orphanet_98583 Precancerous lesion of palpebral epidermis null http://www.orpha.net/ORDO/Orphanet_98583 node Orphanet_96069 Distal trisomy 1p36 null http://www.orpha.net/ORDO/Orphanet_96069 node Orphanet_1551 Familial benign copper deficiency null http://www.orpha.net/ORDO/Orphanet_1551 node EFO_1001811 Monteggia's fracture null http://www.ebi.ac.uk/efo/EFO_1001811 node EFO_0006740 pulmonary mucoepidermoid carcinoma null http://www.ebi.ac.uk/efo/EFO_0006740 node MONDO_0044750 lassa virus infectious disease null http://purl.obolibrary.org/obo/MONDO_0044750 node PO_0006058 cotyledon adaxial epidermis null http://purl.obolibrary.org/obo/PO_0006058 node EFO_1000707 hemangioma of subcutaneous tissue null http://www.ebi.ac.uk/efo/EFO_1000707 node Orphanet_352456 Mitochondrial DNA maintenance syndrome null http://www.orpha.net/ORDO/Orphanet_352456 node MONDO_0021117 lung neoplasm null http://purl.obolibrary.org/obo/MONDO_0021117 node EFO_0000263 anterior spiracle specific anlage null http://www.ebi.ac.uk/efo/EFO_0000263 node EFO_0010804 vascular endothelial growth factor A measurement null http://www.ebi.ac.uk/efo/EFO_0010804 node CHEBI_26020 phosphate null http://purl.obolibrary.org/obo/CHEBI_26020 node EFO_0010252 Menke-Hennekam syndrome 1 null http://www.ebi.ac.uk/efo/EFO_0010252 node EFO_0008779 in-cell SHAPE-Seq null http://www.ebi.ac.uk/efo/EFO_0008779 node EFO_0000076 CS57727 null http://www.ebi.ac.uk/efo/EFO_0000076 node Orphanet_2007 Alar cartilages hypoplasia - coloboma - telecanthus null http://www.orpha.net/ORDO/Orphanet_2007 node GO_0072521 purine-containing compound metabolic process null http://purl.obolibrary.org/obo/GO_0072521 node Orphanet_98671 Optic neuropathy null http://www.orpha.net/ORDO/Orphanet_98671 node EFO_0004921 GM00038 null http://www.ebi.ac.uk/efo/EFO_0004921 node Orphanet_163717 Benign familial mesial temporal lobe epilepsy null http://www.orpha.net/ORDO/Orphanet_163717 node PO_0007063 LP.07 seven leaves visible stage null http://purl.obolibrary.org/obo/PO_0007063 node Orphanet_35664 ALDH18A1-related De Barsy syndrome null http://www.orpha.net/ORDO/Orphanet_35664 node EFO_0007590 Zea mays Mo17 inbred line null http://www.ebi.ac.uk/efo/EFO_0007590 node Orphanet_353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency null http://www.orpha.net/ORDO/Orphanet_353284 node EFO_0004054 CB4855 null http://www.ebi.ac.uk/efo/EFO_0004054 node EFO_0010340 cholesteryl ester 14:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010340 node EFO_0008867 Pool-Seq null http://www.ebi.ac.uk/efo/EFO_0008867 node EFO_0006488 SK-MEL-30 null http://www.ebi.ac.uk/efo/EFO_0006488 node EFO_0000164 CS57908 null http://www.ebi.ac.uk/efo/EFO_0000164 node Orphanet_183734 Genetic gynecological tumor null http://www.orpha.net/ORDO/Orphanet_183734 node MONDO_0008627 ureter cancer null http://purl.obolibrary.org/obo/MONDO_0008627 node CL_0000051 common lymphoid progenitor CLP are CD7-positive, CD10-positive, CD19-negative, CD34-positive, CD45RA-positive, CD79a-negative, CD127-positive, AA4.1-positive, RAG-negative, Sca-1-low, sIgM-negative, sIgD-negative, TdT-negative, Vpre-B-negative, and pre-BCR-negative. Expression of transcription factors include E2A-positive, EBF-positive, Ikaros-negative, PU.1-negative, and Pax5-negative. http://purl.obolibrary.org/obo/CL_0000051 node MONDO_0019748 rare cause of hypertension null http://purl.obolibrary.org/obo/MONDO_0019748 node UBERON_0004027 chorionic plate null http://purl.obolibrary.org/obo/UBERON_0004027 node MONDO_0002353 glottis neoplasm null http://purl.obolibrary.org/obo/MONDO_0002353 node EFO_0008269 properdin measurement null http://www.ebi.ac.uk/efo/EFO_0008269 node CHEBI_28924 3-aminophenol null http://purl.obolibrary.org/obo/CHEBI_28924 node CHEBI_76281 tetradecanedioate (2-) null http://purl.obolibrary.org/obo/CHEBI_76281 node FBbt_00005748 embryonic anal pad null http://purl.obolibrary.org/obo/FBbt_00005748 node EFO_0008075 cation-independent mannose-6-phosphate receptor measurement null http://www.ebi.ac.uk/efo/EFO_0008075 node Orphanet_3080 Intellectual disability, Wolff type null http://www.orpha.net/ORDO/Orphanet_3080 node EFO_0008534 tryptophan measurement null http://www.ebi.ac.uk/efo/EFO_0008534 node Orphanet_243 46,XX gonadal dysgenesis null http://www.orpha.net/ORDO/Orphanet_243 node EFO_0007534 Venezuelan equine encephalitis null http://www.ebi.ac.uk/efo/EFO_0007534 node EFO_0006607 Kasumi-1 null http://www.ebi.ac.uk/efo/EFO_0006607 node MONDO_0002441 Jervell-Lange Nielsen syndrome null http://purl.obolibrary.org/obo/MONDO_0002441 node MONDO_0002236 ocular cancer Editor note: check to see whether structure is eye or eye + adnexa http://purl.obolibrary.org/obo/MONDO_0002236 node EFO_0008357 docosatetranoic acid measurement null http://www.ebi.ac.uk/efo/EFO_0008357 node UBERON_0000993 oviduct null http://purl.obolibrary.org/obo/UBERON_0000993 node UBERON_0005440 ductus arteriosus null http://purl.obolibrary.org/obo/UBERON_0005440 node HP_0004902 Congenital lactic acidosis null http://purl.obolibrary.org/obo/HP_0004902 node Orphanet_370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies null http://www.orpha.net/ORDO/Orphanet_370006 node MONDO_0020588 lung PEComa null http://purl.obolibrary.org/obo/MONDO_0020588 node MONDO_0029143 intellectual developmental disorder with hypertelorism and distinctive facies null http://purl.obolibrary.org/obo/MONDO_0029143 node CL_0000525 syncytiotrophoblast cell null http://purl.obolibrary.org/obo/CL_0000525 node CLO_0029916 GM15144 null http://purl.obolibrary.org/obo/CLO_0029916 node EFO_1000672 obsolete_Bloch-Sulzberger syndrome null http://www.ebi.ac.uk/efo/EFO_1000672 node GO_1901558 response to metformin null http://purl.obolibrary.org/obo/GO_1901558 node EFO_0008163 intercellular adhesion molecule 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008163 node Orphanet_86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type null http://www.orpha.net/ORDO/Orphanet_86923 node MONDO_0001020 amblyopia (disease) null http://purl.obolibrary.org/obo/MONDO_0001020 node HP_0004329 Abnormal posterior eye segment morphology The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve. http://purl.obolibrary.org/obo/HP_0004329 node EFO_1000485 Pleural Mesothelioma null http://www.ebi.ac.uk/efo/EFO_1000485 node EFO_0007622 sRAGE measurement null http://www.ebi.ac.uk/efo/EFO_0007622 node Orphanet_331 Congenital factor XIII deficiency null http://www.orpha.net/ORDO/Orphanet_331 node Orphanet_93425 Filamin-related bone disorder null http://www.orpha.net/ORDO/Orphanet_93425 node Orphanet_178 Chordoma null http://www.orpha.net/ORDO/Orphanet_178 node EFO_1000789 osteoarthritis, hand null http://www.ebi.ac.uk/efo/EFO_1000789 node EFO_0007435 obsolete_pharynx null http://www.ebi.ac.uk/efo/EFO_0007435 node HP_0003756 Skeletal myopathy null http://purl.obolibrary.org/obo/HP_0003756 node EFO_0001429 family based design null http://www.ebi.ac.uk/efo/EFO_0001429 node MONDO_0020676 disease of central nervous system or retinal vasculature Editor note: even though retinal diseases may be located outside the CNS, they are often indicators of CNS disease http://purl.obolibrary.org/obo/MONDO_0020676 node CHEBI_9130 sevoflurane null http://purl.obolibrary.org/obo/CHEBI_9130 node Orphanet_75374 Bradyopsia null http://www.orpha.net/ORDO/Orphanet_75374 node Orphanet_2301 Congenital short bowel syndrome null http://www.orpha.net/ORDO/Orphanet_2301 node Orphanet_238455 Infantile dystonia-parkinsonism null http://www.orpha.net/ORDO/Orphanet_238455 node EFO_0002374 SW900 null http://www.ebi.ac.uk/efo/EFO_0002374 node EFO_0002169 Daudi null http://www.ebi.ac.uk/efo/EFO_0002169 node CHEBI_8028 perphenazine null http://purl.obolibrary.org/obo/CHEBI_8028 node Orphanet_1747 Mosaic trisomy 7 null http://www.orpha.net/ORDO/Orphanet_1747 node EFO_1000573 Testicular Teratoma null http://www.ebi.ac.uk/efo/EFO_1000573 node MONDO_0042484 disseminated sporotrichosis null http://purl.obolibrary.org/obo/MONDO_0042484 node Orphanet_251071 8p23.1 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_251071 node UBERON_0001885 dentate gyrus of hippocampal formation BTO says dentate gyrus = fascia dentata + hilus. Note that GO classifies dentate gyrus development under hippocampus development http://purl.obolibrary.org/obo/UBERON_0001885 node Orphanet_251014 2q31.1 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_251014 node NCBITaxon_302911 Bifidobacterium animalis subsp. lactis null http://purl.obolibrary.org/obo/NCBITaxon_302911 node EFO_0002257 NCI-H1581 null http://www.ebi.ac.uk/efo/EFO_0002257 node EFO_0002842 PC-1 null http://www.ebi.ac.uk/efo/EFO_0002842 node Orphanet_501 Lafora disease null http://www.orpha.net/ORDO/Orphanet_501 node Orphanet_369837 Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome null http://www.orpha.net/ORDO/Orphanet_369837 node HP_0010689 Mirror image polydactyly Transplantation of the ZPA (zone of polarised activity) to the anterior margin of a limb bud in the chick results in mirror image duplication of limb elements (Tabin, 1991). Similarly, mirror image duplication in the forelimb of the mouse has been observed with ectopic expression of Hox b-8 (Charit6 et al, 1994). Mirror hand anomaly in humans has been shown to be due to either aberrant positioning of the ZPA or altered inductive interactions of the Shh gene resulting in impairment of the mechanism responsible for the organization and differentiation of the limb bud, rather than a primary duplication event. In other words, the primary event results in failure of the radial ray to develop. The ulnar area will then induce the differentiation of two groups of ulnar rays. Timing of this insult could play a critical role in severity of this phenotypic feature. Syndromal mirror hand is probably due to agene mutation of the Shh gene (Hersh et al, 1995). Finally, the multiple hand deformity may be explained by true duplication of the ZPA. http://purl.obolibrary.org/obo/HP_0010689 node EFO_0009328 cerebral cortex growth measurement null http://www.ebi.ac.uk/efo/EFO_0009328 node EFO_0002959 NTera2 null http://www.ebi.ac.uk/efo/EFO_0002959 node Orphanet_261857 Partial deletion of the short arm of chromosome 1 null http://www.orpha.net/ORDO/Orphanet_261857 node CL_0000937 pre-natural killer cell These cells are also reportedly CD7-low, CD10-negative, CD45RA-positive, alpha-4-beta-7 integrin-high. http://purl.obolibrary.org/obo/CL_0000937 node NCBITaxon_4513 Hordeum vulgare null http://purl.obolibrary.org/obo/NCBITaxon_4513 node EFO_0004243 carcinoid tumor Editor note: In NCIT all carcinoid tumors are grade 1, but the name is sometimes used more broadly in other sources http://www.ebi.ac.uk/efo/EFO_0004243 node EFO_0003316 basic fibroblast growth factor null http://www.ebi.ac.uk/efo/EFO_0003316 node EFO_0002345 SNU182 null http://www.ebi.ac.uk/efo/EFO_0002345 node Orphanet_275749 Beta-thalassemia and related diseases null http://www.orpha.net/ORDO/Orphanet_275749 node EFO_0002930 milligram per kilogram per day null http://www.ebi.ac.uk/efo/EFO_0002930 node Orphanet_158029 Sea-blue histiocytosis null http://www.orpha.net/ORDO/Orphanet_158029 node Orphanet_2182 Hydrocephalus with stenosis of the aqueduct of Sylvius null http://www.orpha.net/ORDO/Orphanet_2182 node UBERON_0003070 trigeminal placode complex null http://purl.obolibrary.org/obo/UBERON_0003070 node EFO_0003670 obsolete_vagal ganglion 1 null http://www.ebi.ac.uk/efo/EFO_0003670 node EFO_0002743 C57BL/6-scid null http://www.ebi.ac.uk/efo/EFO_0002743 node HP_0000610 Abnormal choroid morphology null http://purl.obolibrary.org/obo/HP_0000610 node CHEBI_6904 metoprolol null http://purl.obolibrary.org/obo/CHEBI_6904 node Orphanet_371207 Congenital disorder of glycosylation with nephropathy as a major feature null http://www.orpha.net/ORDO/Orphanet_371207 node CHEBI_33130 aluminium hydroxide null http://purl.obolibrary.org/obo/CHEBI_33130 node CHEBI_15843 arachidonic acid null http://purl.obolibrary.org/obo/CHEBI_15843 node EFO_0002566 embryonic day 15.5 null http://www.ebi.ac.uk/efo/EFO_0002566 node EFO_0009416 CCL21 measurement null http://www.ebi.ac.uk/efo/EFO_0009416 node CLO_0013983 GM17162 null http://purl.obolibrary.org/obo/CLO_0013983 node HP_0001350 Slurred speech null http://purl.obolibrary.org/obo/HP_0001350 node UBERON_0004801 cervix epithelium null http://purl.obolibrary.org/obo/UBERON_0004801 node Orphanet_101685 Rare intellectual disability without developmental anomaly null http://www.orpha.net/ORDO/Orphanet_101685 node EFO_0006689 NCI-H2810 null http://www.ebi.ac.uk/efo/EFO_0006689 node Orphanet_51577 Cobblestone lissencephaly null http://www.orpha.net/ORDO/Orphanet_51577 node EFO_0004126 Adie syndrome null http://www.ebi.ac.uk/efo/EFO_0004126 node MONDO_0015828 uterovaginal malformation null http://purl.obolibrary.org/obo/MONDO_0015828 node NCBITaxon_1703 Brevibacterium linens null http://purl.obolibrary.org/obo/NCBITaxon_1703 node EFO_0000821 obsolete_endocardium null http://www.ebi.ac.uk/efo/EFO_0000821 node UBERON_0000107 cleavage stage null http://purl.obolibrary.org/obo/UBERON_0000107 node EFO_1001349 Human T-lymphotropic virus 2 infectious disease null http://www.ebi.ac.uk/efo/EFO_1001349 node Orphanet_100980 Autosomal dominant pure spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_100980 node Orphanet_314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency null http://www.orpha.net/ORDO/Orphanet_314718 node EFO_0005340 GM12867 null http://www.ebi.ac.uk/efo/EFO_0005340 node Orphanet_168555 Spondylometaphyseal dysplasia, A4 type null http://www.orpha.net/ORDO/Orphanet_168555 node CHEBI_16814 dehydroepiandrosterone sulfate null http://purl.obolibrary.org/obo/CHEBI_16814 node NCBITaxon_28038 Lactobacillus curvatus null http://purl.obolibrary.org/obo/NCBITaxon_28038 node EFO_0001012 obsolete_root hair null http://www.ebi.ac.uk/efo/EFO_0001012 node MONDO_0017609 renal tubular dysgenesis null http://purl.obolibrary.org/obo/MONDO_0017609 node EFO_0005153 Col-5 null http://www.ebi.ac.uk/efo/EFO_0005153 node MONDO_0060766 anal polyp null http://purl.obolibrary.org/obo/MONDO_0060766 node Orphanet_306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome null http://www.orpha.net/ORDO/Orphanet_306547 node MONDO_0021180 acquired xanthinuria null http://purl.obolibrary.org/obo/MONDO_0021180 node EFO_0008944 SpDamID null http://www.ebi.ac.uk/efo/EFO_0008944 node EFO_0004612 high density lipoprotein cholesterol measurement null http://www.ebi.ac.uk/efo/EFO_0004612 node NCBITaxon_48485 Fusarium anthophilum null http://purl.obolibrary.org/obo/NCBITaxon_48485 node EFO_0000569 liposarcoma null http://www.ebi.ac.uk/efo/EFO_0000569 node Orphanet_314629 CLN11 disease null http://www.orpha.net/ORDO/Orphanet_314629 node NCBITaxon_48883 Geospiza fortis null http://purl.obolibrary.org/obo/NCBITaxon_48883 node EFO_0005241 employment status null http://www.ebi.ac.uk/efo/EFO_0005241 node Orphanet_79197 Disorder of branched-chain amino acid metabolism Editor note: consider parent for non-inborn form http://www.orpha.net/ORDO/Orphanet_79197 node MONDO_0021119 non-functioning endocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0021119 node EFO_0007985 platelet crit null http://www.ebi.ac.uk/efo/EFO_0007985 node EFO_0005064 nitrocellulose substrate null http://www.ebi.ac.uk/efo/EFO_0005064 node NCBITaxon_562 Escherichia coli null http://purl.obolibrary.org/obo/NCBITaxon_562 node UO_0000176 milligram per milliliter null http://purl.obolibrary.org/obo/UO_0000176 node Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity null http://www.orpha.net/ORDO/Orphanet_179006 node Orphanet_300359 PLCG2-associated antibody deficiency and immune dysregulation null http://www.orpha.net/ORDO/Orphanet_300359 node Orphanet_295034 Congenital knee dislocation null http://www.orpha.net/ORDO/Orphanet_295034 node Orphanet_158684 Epidermolysis bullosa simplex with pyloric atresia null http://www.orpha.net/ORDO/Orphanet_158684 node Orphanet_254913 Isolated ATP synthase deficiency Consider splitting out nuclear type for OMIMPS http://www.orpha.net/ORDO/Orphanet_254913 node EFO_0010612 kit ligand measurement null http://www.ebi.ac.uk/efo/EFO_0010612 node EFO_0010407 triacylglycerol 48:4 measurement null http://www.ebi.ac.uk/efo/EFO_0010407 node HP_0004299 Hernia of the abdominal wall A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia. http://purl.obolibrary.org/obo/HP_0004299 node Orphanet_79304 Progressive familial intrahepatic cholestasis type 2 null http://www.orpha.net/ORDO/Orphanet_79304 node Orphanet_98989 Cerulean cataract null http://www.orpha.net/ORDO/Orphanet_98989 node Orphanet_2536 Microcornea - glaucoma - absent frontal sinuses null http://www.orpha.net/ORDO/Orphanet_2536 node NCBITaxon_85558 Streptomyces turgidiscabies null http://purl.obolibrary.org/obo/NCBITaxon_85558 node EFO_0009882 urinary potassium to creatinine ratio null http://www.ebi.ac.uk/efo/EFO_0009882 node EFO_0010201 cDNA read offset null http://www.ebi.ac.uk/efo/EFO_0010201 node CHEBI_34873 N-nitrosodiethylamine null http://purl.obolibrary.org/obo/CHEBI_34873 node MONDO_0004670 lupus erythematosus null http://purl.obolibrary.org/obo/MONDO_0004670 node EFO_0001927 obsolete_head capsule null http://www.ebi.ac.uk/efo/EFO_0001927 node EFO_0010014 Omni-ATAC null http://www.ebi.ac.uk/efo/EFO_0010014 node EFO_0008240 N-acylethanolamine-hydrolyzing acid amidase measurement null http://www.ebi.ac.uk/efo/EFO_0008240 node EFO_0006294 SHEP null http://www.ebi.ac.uk/efo/EFO_0006294 node Orphanet_98620 Syndromic myopia null http://www.orpha.net/ORDO/Orphanet_98620 node UBERON_0000070 pupal stage null http://purl.obolibrary.org/obo/UBERON_0000070 node EFO_0010318 parahippocampal gyrus volume measurement null http://www.ebi.ac.uk/efo/EFO_0010318 node EFO_0001181 HCC70 null http://www.ebi.ac.uk/efo/EFO_0001181 node CLO_0016602 GM17765 null http://purl.obolibrary.org/obo/CLO_0016602 node Orphanet_892 Von Hippel-Lindau disease null http://www.orpha.net/ORDO/Orphanet_892 node Orphanet_98914 Presynaptic congenital myasthenic syndromes null http://www.orpha.net/ORDO/Orphanet_98914 node Orphanet_208596 Genetic hyperparathyroidism null http://www.orpha.net/ORDO/Orphanet_208596 node Orphanet_352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement null http://www.orpha.net/ORDO/Orphanet_352306 node NCBITaxon_10566 Human papillomavirus null http://purl.obolibrary.org/obo/NCBITaxon_10566 node OBI_1110122 pathological process null http://purl.obolibrary.org/obo/OBI_1110122 node Orphanet_3082 Intellectual disability - polydactyly - uncombable hair null http://www.orpha.net/ORDO/Orphanet_3082 node EFO_0010102 peginterferon alfa-2a null http://www.ebi.ac.uk/efo/EFO_0010102 node EFO_0007281 geniculate herpes zoster null http://www.ebi.ac.uk/efo/EFO_0007281 node CHEBI_24148 galactonate null http://purl.obolibrary.org/obo/CHEBI_24148 node CHEBI_50113 androgen null http://purl.obolibrary.org/obo/CHEBI_50113 node FBbt_00005609 embryonic proventriculus intermediate layer null http://purl.obolibrary.org/obo/FBbt_00005609 node CL_0000000 cell The definition of cell is intended to represent all cells, and thus a cell is defined as a material entity and not an anatomical structure, which implies that it is part of an organism (or the entirety of one). http://purl.obolibrary.org/obo/CL_0000000 node MONDO_0004571 intestinal impaction null http://purl.obolibrary.org/obo/MONDO_0004571 node Orphanet_957 Acropectorovertebral dysplasia null http://www.orpha.net/ORDO/Orphanet_957 node CLO_0030324 GM15061 null http://purl.obolibrary.org/obo/CLO_0030324 node EFO_0002065 ITV null http://www.ebi.ac.uk/efo/EFO_0002065 node CHEBI_48843 sodium selenite null http://purl.obolibrary.org/obo/CHEBI_48843 node EFO_0004694 factor XI measurement null http://www.ebi.ac.uk/efo/EFO_0004694 node Orphanet_89842 Recessive dystrophic epidermolysis bullosa-generalized other null http://www.orpha.net/ORDO/Orphanet_89842 node EFO_0007238 diphyllobothriasis null http://www.ebi.ac.uk/efo/EFO_0007238 node GO_0044444 cytoplasmic part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0044444 node UBERON_0002623 cerebral peduncle Neuronames includes the substantia nigra, crus cerebri and midbrain tegmentum as substructures of the cerebral peduncle; the mouse atlases only include the crus cerebri as the cerebral peduncle (MM) http://purl.obolibrary.org/obo/UBERON_0002623 node Orphanet_90153 Mandibuloacral dysplasia with type A lipodystrophy null http://www.orpha.net/ORDO/Orphanet_90153 node NCBITaxon_2246 Haloferax volcanii null http://purl.obolibrary.org/obo/NCBITaxon_2246 node Orphanet_295142 Hyperphalangy, bilateral null http://www.orpha.net/ORDO/Orphanet_295142 node MONDO_0004699 gastrointestinal lymphoma null http://purl.obolibrary.org/obo/MONDO_0004699 node MONDO_0001414 osteopoikilosis (disease) null http://purl.obolibrary.org/obo/MONDO_0001414 node EFO_0009709 metastatic neoplasm Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. http://www.ebi.ac.uk/efo/EFO_0009709 node EFO_0009019 Autosomal recessive spastic paraplegia type 76 null http://www.ebi.ac.uk/efo/EFO_0009019 node PO_0025507 fruit size 50 to 70% stage Succeeds a fruit size 30 to 50% stage (PO:0025505) and proceeds a fruit size 70% to final size stage (PO:0025508). This term can only be used if the final size of the fruit is known. This stage is to be used for an individual fruit. For the development stage of a whole plant (PO:0000003), use whole plant fruit formation stage 50 to 70% (PO:0007007). http://purl.obolibrary.org/obo/PO_0025507 node Iran Iran null http://dbpedia.org/resource/Iran node Orphanet_94056 Humero-ulnar synostosis null http://www.orpha.net/ORDO/Orphanet_94056 node EFO_0003162 obsolete_Iranian null http://www.ebi.ac.uk/efo/EFO_0003162 node EFO_1001439 Trilogy of Fallot null http://www.ebi.ac.uk/efo/EFO_1001439 node Orphanet_3369 Trigonocephaly - short stature - developmental delay null http://www.orpha.net/ORDO/Orphanet_3369 node Orphanet_309015 Familial lipoprotein lipase deficiency null http://www.orpha.net/ORDO/Orphanet_309015 node EFO_0000068 CS57709 null http://www.ebi.ac.uk/efo/EFO_0000068 node EFO_0006953 family history of lung cancer null http://www.ebi.ac.uk/efo/EFO_0006953 node UBERON_0002524 mediastinal lymph node null http://purl.obolibrary.org/obo/UBERON_0002524 node Orphanet_293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome null http://www.orpha.net/ORDO/Orphanet_293822 node EFO_0006766 TYK-nu null http://www.ebi.ac.uk/efo/EFO_0006766 node EFO_0003361 obsolete_head visceral muscle primordium null http://www.ebi.ac.uk/efo/EFO_0003361 node CHEBI_10033 warfarin null http://purl.obolibrary.org/obo/CHEBI_10033 node CHEBI_84659 triacylglycerol 54:3 null http://purl.obolibrary.org/obo/CHEBI_84659 node EFO_0000289 bipolar disorder null http://www.ebi.ac.uk/efo/EFO_0000289 node EFO_0009107 nucleic acid amplification null http://www.ebi.ac.uk/efo/EFO_0009107 node EFO_0010283 blood disease null http://www.ebi.ac.uk/efo/EFO_0010283 node EFO_0010096 artificially sweetened beverage consumption measurement null http://www.ebi.ac.uk/efo/EFO_0010096 node EFO_0010681 ileostomy null http://www.ebi.ac.uk/efo/EFO_0010681 node Orphanet_1670 Chronic diarrhea with villous atrophy null http://www.orpha.net/ORDO/Orphanet_1670 node MONDO_0054852 peeling skin syndrome 6 null http://purl.obolibrary.org/obo/MONDO_0054852 node EFO_1001925 pneumococcal bacteremia null http://www.ebi.ac.uk/efo/EFO_1001925 node CHEBI_74077 S-allylcysteine null http://purl.obolibrary.org/obo/CHEBI_74077 node GO_0051301 cell division Note that this term differs from 'cytokinesis ; GO:0000910' in that cytokinesis does not include nuclear division. http://purl.obolibrary.org/obo/GO_0051301 node PO_0007094 LP.01 one leaf visible stage null http://purl.obolibrary.org/obo/PO_0007094 node Orphanet_85288 X-linked intellectual disability, Stocco Dos Santos type null http://www.orpha.net/ORDO/Orphanet_85288 node EFO_0000377 obsolete_cornea structure null http://www.ebi.ac.uk/efo/EFO_0000377 node EFO_0010798 transforming growth factor-alpha measurement null http://www.ebi.ac.uk/efo/EFO_0010798 node EFO_1001058 necrotizing ulcerative gingivitis null http://www.ebi.ac.uk/efo/EFO_1001058 node CLO_0033747 ND04424 null http://purl.obolibrary.org/obo/CLO_0033747 node EFO_1000087 Angiomyxoma null http://www.ebi.ac.uk/efo/EFO_1000087 node EFO_0005488 NW1229 null http://www.ebi.ac.uk/efo/EFO_0005488 node EFO_0003609 obsolete_rhombomere 4 null http://www.ebi.ac.uk/efo/EFO_0003609 node EFO_0010184 Smart-like null http://www.ebi.ac.uk/efo/EFO_0010184 node CHEBI_8772 raloxifene null http://purl.obolibrary.org/obo/CHEBI_8772 node CHEBI_16523 D-serine null http://purl.obolibrary.org/obo/CHEBI_16523 node Orphanet_357001 19p13.13 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_357001 node MONDO_0018520 rare epithelial tumor of pancreas Editor note: TODO http://purl.obolibrary.org/obo/MONDO_0018520 node HP_0011555 Double inlet left ventricle null http://purl.obolibrary.org/obo/HP_0011555 node EFO_0007891 skin barrier function measurement null http://www.ebi.ac.uk/efo/EFO_0007891 node CHEBI_11424 2,3-dihydroxy-3-methylbutanoate null http://purl.obolibrary.org/obo/CHEBI_11424 node MONDO_0030062 arrhythmogenic right ventricular dysplasia, familial, 14 null http://purl.obolibrary.org/obo/MONDO_0030062 node MONDO_0018619 hyperinsulinemic hypoglycaemia null http://purl.obolibrary.org/obo/MONDO_0018619 node EFO_0010886 HG03521 null http://www.ebi.ac.uk/efo/EFO_0010886 node CHEBI_2341 AACOCF3 null http://purl.obolibrary.org/obo/CHEBI_2341 node MONDO_0012088 primary ciliary dyskinesia 5 null http://purl.obolibrary.org/obo/MONDO_0012088 node Orphanet_2131 Alternating hemiplegia of childhood null http://www.orpha.net/ORDO/Orphanet_2131 node MONDO_0018403 female infertility due to an implantation defect null http://purl.obolibrary.org/obo/MONDO_0018403 node HP_0010539 Thin calvarium null http://purl.obolibrary.org/obo/HP_0010539 node EFO_0005155 Ler-1 null http://www.ebi.ac.uk/efo/EFO_0005155 node Orphanet_33 Isovaleric acidemia null http://www.orpha.net/ORDO/Orphanet_33 node EFO_0009968 ligation-free chromosome conformation capture assay null http://www.ebi.ac.uk/efo/EFO_0009968 node Orphanet_103 Genetic optic atrophy null http://www.orpha.net/ORDO/Orphanet_103 node EFO_0001985 obsolete_pulmonary alveolus null http://www.ebi.ac.uk/efo/EFO_0001985 node EFO_0005243 myeloperoxidase measurement null http://www.ebi.ac.uk/efo/EFO_0005243 node CHEBI_74534 Leu-Gly null http://purl.obolibrary.org/obo/CHEBI_74534 node EFO_0005066 collection of material null http://www.ebi.ac.uk/efo/EFO_0005066 node CHEBI_6015 isoflurane null http://purl.obolibrary.org/obo/CHEBI_6015 node Orphanet_53739 Distal hereditary motor neuropathy null http://www.orpha.net/ORDO/Orphanet_53739 node NCBITaxon_1906 Streptomyces fradiae null http://purl.obolibrary.org/obo/NCBITaxon_1906 node MONDO_0019937 rare gynecologic or obstetric disease null http://purl.obolibrary.org/obo/MONDO_0019937 node MONDO_0003061 benign muscle neoplasm null http://purl.obolibrary.org/obo/MONDO_0003061 node Orphanet_251355 Sickle cell disease associated with an other hemoglobin anomaly null http://www.orpha.net/ORDO/Orphanet_251355 node EFO_0001402 obsolete_trigeminal nerve null http://www.ebi.ac.uk/efo/EFO_0001402 node Orphanet_427 Familial hypoaldosteronism null http://www.orpha.net/ORDO/Orphanet_427 node Orphanet_294963 Popliteal pterygium syndrome Editor notes: DO and ordo classifies as AD, however there is an AR subclass (Bartsocas-Papas) http://www.orpha.net/ORDO/Orphanet_294963 node MONDO_0002438 acquired polycythemia null http://purl.obolibrary.org/obo/MONDO_0002438 node Orphanet_263708 Complex chromosomal rearrangement null http://www.orpha.net/ORDO/Orphanet_263708 node Orphanet_101071 Unilateral hemispheric polymicrogyria null http://www.orpha.net/ORDO/Orphanet_101071 node MONDO_0002848 skeletal muscle neoplasm null http://purl.obolibrary.org/obo/MONDO_0002848 node EFO_0009884 urinary sodium to potassium ratio null http://www.ebi.ac.uk/efo/EFO_0009884 node UBERON_0007285 presumptive paraxial mesoderm null http://purl.obolibrary.org/obo/UBERON_0007285 node CLO_0013887 GM17217 null http://purl.obolibrary.org/obo/CLO_0013887 node UBERON_0001273 ilium null http://purl.obolibrary.org/obo/UBERON_0001273 node MONDO_0011026 autosomal recessive congenital ichthyosis 4A null http://purl.obolibrary.org/obo/MONDO_0011026 node MONDO_0007052 growth hormone secreting pituitary adenoma 1 Editor note: consider splitting OMIM http://purl.obolibrary.org/obo/MONDO_0007052 node EFO_0008723 Droplet-CirSeq null http://www.ebi.ac.uk/efo/EFO_0008723 node EFO_0007619 suicide ideation measurement null http://www.ebi.ac.uk/efo/EFO_0007619 node EFO_0001183 HEK-293H null http://www.ebi.ac.uk/efo/EFO_0001183 node MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome null http://purl.obolibrary.org/obo/MONDO_0014764 node EFO_0002230 MCIXC null http://www.ebi.ac.uk/efo/EFO_0002230 node EFO_0001303 obsolete_larval stage null http://www.ebi.ac.uk/efo/EFO_0001303 node NCBITaxon_28285 Human adenovirus 5 null http://purl.obolibrary.org/obo/NCBITaxon_28285 node HP_0002779 Tracheomalacia null http://purl.obolibrary.org/obo/HP_0002779 node Orphanet_3388 Neural tube defect null http://www.orpha.net/ORDO/Orphanet_3388 node Orphanet_330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability null http://www.orpha.net/ORDO/Orphanet_330206 node EFO_0002558 obsolete_parotid gland null http://www.ebi.ac.uk/efo/EFO_0002558 node HP_0005224 Rectal abscess null http://purl.obolibrary.org/obo/HP_0005224 node Orphanet_391428 HSD10 disease, infantile type null http://www.orpha.net/ORDO/Orphanet_391428 node Orphanet_36383 Familial vascular leukoencephalopathy null http://www.orpha.net/ORDO/Orphanet_36383 node Orphanet_3225 Hearing loss - familial salivary gland insensitivity to aldosterone null http://www.orpha.net/ORDO/Orphanet_3225 node CL_0002508 langerin-negative, CD103-negative lymph node dendritic cell null http://purl.obolibrary.org/obo/CL_0002508 node BTO_0005136 ES-E14 cell null http://purl.obolibrary.org/obo/BTO_0005136 node EFO_0009099 arousal domain measurement null http://www.ebi.ac.uk/efo/EFO_0009099 node EFO_1000861 cervical rib syndrome null http://www.ebi.ac.uk/efo/EFO_1000861 node HP_0000238 Hydrocephalus Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. http://purl.obolibrary.org/obo/HP_0000238 node EFO_0003883 obsolete_brain ischemia null http://www.ebi.ac.uk/efo/EFO_0003883 node EFO_0009760 non-proliferative diabetic retinopathy null http://www.ebi.ac.uk/efo/EFO_0009760 node EFO_1000674 carbuncle null http://www.ebi.ac.uk/efo/EFO_1000674 node EFO_0001271 mixed sex population null http://www.ebi.ac.uk/efo/EFO_0001271 node EFO_0009573 high-risk pregnancy null http://www.ebi.ac.uk/efo/EFO_0009573 node UBERON_2001063 posterior caudal vein null http://purl.obolibrary.org/obo/UBERON_2001063 node EFO_0000626 obsolete_nucleic acid extracted Not needed. http://www.ebi.ac.uk/efo/EFO_0000626 node EFO_0004339 body height null http://www.ebi.ac.uk/efo/EFO_0004339 node CLO_0011237 GM08928 null http://purl.obolibrary.org/obo/CLO_0011237 node Orphanet_166068 Pontocerebellar hypoplasia type 5 null http://www.orpha.net/ORDO/Orphanet_166068 node HP_0009028 Generalized weakness of limb muscles null http://purl.obolibrary.org/obo/HP_0009028 node EFO_0003971 MEL cell line null http://www.ebi.ac.uk/efo/EFO_0003971 node EFO_0000847 obsolete_anal region null http://www.ebi.ac.uk/efo/EFO_0000847 node Orphanet_583 Mucopolysaccharidosis type 6 null http://www.orpha.net/ORDO/Orphanet_583 node EFO_1000762 scleredema adultorum null http://www.ebi.ac.uk/efo/EFO_1000762 node CHEBI_37550 sphingosine 1-phosphate null http://purl.obolibrary.org/obo/CHEBI_37550 node Orphanet_262682 Partial trisomy/tetrasomy of chromosome 18 null http://www.orpha.net/ORDO/Orphanet_262682 node HP_0001651 Dextrocardia null http://purl.obolibrary.org/obo/HP_0001651 node EFO_0004604 synthetic DNA data null http://www.ebi.ac.uk/efo/EFO_0004604 node EFO_0000233 adenosquamous lung carcinoma null http://www.ebi.ac.uk/efo/EFO_0000233 node EFO_0005531 urticaria null http://www.ebi.ac.uk/efo/EFO_0005531 node EFO_0009661 bronchitis null http://www.ebi.ac.uk/efo/EFO_0009661 node EFO_0005344 GM12871 null http://www.ebi.ac.uk/efo/EFO_0005344 node MONDO_0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder null http://purl.obolibrary.org/obo/MONDO_0018794 node EFO_1001803 lingual thyroid null http://www.ebi.ac.uk/efo/EFO_1001803 node EFO_0005752 eye inflammation null http://www.ebi.ac.uk/efo/EFO_0005752 node HP_0002107 Pneumothorax null http://purl.obolibrary.org/obo/HP_0002107 node EFO_0004825 temperament and character inventory null http://www.ebi.ac.uk/efo/EFO_0004825 node EFO_0003854 postmenopausal osteoporosis null http://www.ebi.ac.uk/efo/EFO_0003854 node EFO_0000935 obsolete_trachea null http://www.ebi.ac.uk/efo/EFO_0000935 node PO_0020038 petiole null http://purl.obolibrary.org/obo/PO_0020038 node Orphanet_307061 Rare genetic tremor disorder null http://www.orpha.net/ORDO/Orphanet_307061 node GO_0045121 membrane raft null http://purl.obolibrary.org/obo/GO_0045121 node EFO_0000321 obsolete_cell factor null http://www.ebi.ac.uk/efo/EFO_0000321 node EFO_1001002 kernicterus null http://www.ebi.ac.uk/efo/EFO_1001002 node EFO_0005432 non-substance related disinhibited behaviour null http://www.ebi.ac.uk/efo/EFO_0005432 node Orphanet_85453 X-linked reticulate pigmentary disorder with systemic manifestations null http://www.orpha.net/ORDO/Orphanet_85453 node EFO_1001410 Pythiosis null http://www.ebi.ac.uk/efo/EFO_1001410 node EFO_0010460 anthranilic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010460 node EFO_0001126 GM11994 null http://www.ebi.ac.uk/efo/EFO_0001126 node EFO_0005840 Pyruvate kinase hyperactivity null http://www.ebi.ac.uk/efo/EFO_0005840 node EFO_0004913 lentiform nucleus measurement null http://www.ebi.ac.uk/efo/EFO_0004913 node CHEBI_55379 camphorsulfonic acid null http://purl.obolibrary.org/obo/CHEBI_55379 node EFO_0000542 individual null http://www.ebi.ac.uk/efo/EFO_0000542 node UBERON_0002314 midbrain tectum null http://purl.obolibrary.org/obo/UBERON_0002314 node EFO_1001223 ulcerative proctosigmoiditis null http://www.ebi.ac.uk/efo/EFO_1001223 node CL_0000861 elicited macrophage Markers: CD11b+, CD68+; Mouse: F4/80+; role or process: immune, inflammation (inflammatory response). http://purl.obolibrary.org/obo/CL_0000861 node EFO_0005653 serum metabolite measurement null http://www.ebi.ac.uk/efo/EFO_0005653 node GO_0032940 secretion by cell null http://purl.obolibrary.org/obo/GO_0032940 node Orphanet_53693 GRACILE syndrome null http://www.orpha.net/ORDO/Orphanet_53693 node MONDO_0000833 bone remodeling disease null http://purl.obolibrary.org/obo/MONDO_0000833 node CHEBI_8551 Protein N6,N6,N6-trimethyl-L-lysine null http://purl.obolibrary.org/obo/CHEBI_8551 node MONDO_0004736 inherited amino acid metabolic disorder null http://purl.obolibrary.org/obo/MONDO_0004736 node EFO_0006715 Okajima null http://www.ebi.ac.uk/efo/EFO_0006715 node EFO_1001311 End Stage Liver Disease null http://www.ebi.ac.uk/efo/EFO_1001311 node Orphanet_280679 Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism null http://www.orpha.net/ORDO/Orphanet_280679 node CL_0002191 granulocytopoietic cell null http://purl.obolibrary.org/obo/CL_0002191 node CHEBI_91068 sphingomyelin 24:1 null http://purl.obolibrary.org/obo/CHEBI_91068 node UBERON_0002038 substantia nigra null http://purl.obolibrary.org/obo/UBERON_0002038 node MONDO_0021449 benign neoplasm of stomach null http://purl.obolibrary.org/obo/MONDO_0021449 node GO_0044691 tooth eruption The tooth development process in which the teeth enter the mouth and become visible. http://purl.obolibrary.org/obo/GO_0044691 node Orphanet_2788 Osteoporosis - pseudoglioma null http://www.orpha.net/ORDO/Orphanet_2788 node EFO_0010708 placental endothelial cell Made as a placeholder for AE anatomagrams, term should be requested in CL. http://www.ebi.ac.uk/efo/EFO_0010708 node Orphanet_364803 Rare bone disease related to a common gene or pathway defect null http://www.orpha.net/ORDO/Orphanet_364803 node MONDO_0001291 brain compression null http://purl.obolibrary.org/obo/MONDO_0001291 node Orphanet_309842 Disorder of iron metabolism and transport null http://www.orpha.net/ORDO/Orphanet_309842 node EFO_0007893 alpha-carotene measurement null http://www.ebi.ac.uk/efo/EFO_0007893 node CLO_0014412 GM17242 null http://purl.obolibrary.org/obo/CLO_0014412 node Orphanet_98646 Renal disease with cataract null http://www.orpha.net/ORDO/Orphanet_98646 node EFO_0007730 PWK/PhJ null http://www.ebi.ac.uk/efo/EFO_0007730 node EFO_0006803 vasculitis see infosheet: http://www.vasculitis.org.uk/content/downloads/understanding-vasculitis-factsheet-june-2014.pdf http://www.ebi.ac.uk/efo/EFO_0006803 node Orphanet_263720 X chromosome number anomaly with male phenotype null http://www.orpha.net/ORDO/Orphanet_263720 node EFO_0006545 brain glioblastoma null http://www.ebi.ac.uk/efo/EFO_0006545 node MONDO_0017019 interstitial lung disease specific to infancy null http://purl.obolibrary.org/obo/MONDO_0017019 node Orphanet_2876 PHAVER syndrome null http://www.orpha.net/ORDO/Orphanet_2876 node HP_0031987 Diminished ability to concentrate null http://purl.obolibrary.org/obo/HP_0031987 node MONDO_0012586 coronary artery disease, autosomal dominant 2 null http://purl.obolibrary.org/obo/MONDO_0012586 node MONDO_0000728 ptosis (disease) null http://purl.obolibrary.org/obo/MONDO_0000728 node EFO_0010609 mucin‐16 measurement null http://www.ebi.ac.uk/efo/EFO_0010609 node NCBITaxon_6656 Arthropoda null http://purl.obolibrary.org/obo/NCBITaxon_6656 node Orphanet_988 Absent tibia - polydactyly null http://www.orpha.net/ORDO/Orphanet_988 node EFO_1000477 Pituicytoma null http://www.ebi.ac.uk/efo/EFO_1000477 node EFO_0007631 hexose measurement null http://www.ebi.ac.uk/efo/EFO_0007631 node CLO_0023794 GM10832 null http://purl.obolibrary.org/obo/CLO_0023794 node BTO_0005339 Ma-Mel-11 cell null http://purl.obolibrary.org/obo/BTO_0005339 node GO_0044249 cellular biosynthetic process null http://purl.obolibrary.org/obo/GO_0044249 node MONDO_0001357 hypochromic anemia (disease) null http://purl.obolibrary.org/obo/MONDO_0001357 node EFO_0007582 blood molybdenum measurement null http://www.ebi.ac.uk/efo/EFO_0007582 node UBERON_6007435 obsolete endocrine system component null http://purl.obolibrary.org/obo/UBERON_6007435 node CL_0002478 F4/80-negative adipose macrophage null http://purl.obolibrary.org/obo/CL_0002478 node MONDO_0000816 abdominal obesity-metabolic syndrome null http://purl.obolibrary.org/obo/MONDO_0000816 node EFO_0007395 Newcastle disease A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. http://www.ebi.ac.uk/efo/EFO_0007395 node NCBITaxon_10398 Ovine herpesvirus 2 null http://purl.obolibrary.org/obo/NCBITaxon_10398 node MONDO_0024637 malignant soft tissue neoplasm null http://purl.obolibrary.org/obo/MONDO_0024637 node EFO_0009436 offspring survival measurement null http://www.ebi.ac.uk/efo/EFO_0009436 node MONDO_0042493 gastric non-hodgkin lymphoma null http://purl.obolibrary.org/obo/MONDO_0042493 node Orphanet_42665 Tietz syndrome Editor note: consider classification under albinism http://www.orpha.net/ORDO/Orphanet_42665 node EFO_0009917 ICR/HaJ null http://www.ebi.ac.uk/efo/EFO_0009917 node EFO_0004995 lean body mass null http://www.ebi.ac.uk/efo/EFO_0004995 node MONDO_0021049 vulvar neoplasm null http://purl.obolibrary.org/obo/MONDO_0021049 node Orphanet_89938 Infantile Bartter syndrome with sensorineural deafness null http://www.orpha.net/ORDO/Orphanet_89938 node EFO_1001890 food allergy null http://www.ebi.ac.uk/efo/EFO_1001890 node MONDO_0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome null http://purl.obolibrary.org/obo/MONDO_0014455 node HP_0002194 Delayed gross motor development null http://purl.obolibrary.org/obo/HP_0002194 node UO_0000039 micromole null http://purl.obolibrary.org/obo/UO_0000039 node PATO_0001236 process quality See comments of relational quality of a physical entity. http://purl.obolibrary.org/obo/PATO_0001236 node EFO_0003353 obsolete_maxillary sensory complex primordium null http://www.ebi.ac.uk/efo/EFO_0003353 node EFO_0007483 sex cord-gonadal stromal tumor null http://www.ebi.ac.uk/efo/EFO_0007483 node CHEBI_35195 surfactant role null http://purl.obolibrary.org/obo/CHEBI_35195 node Orphanet_3079 Intellectual disability, Buenos-Aires type null http://www.orpha.net/ORDO/Orphanet_3079 node EFO_0003166 obsolete_Latino null http://www.ebi.ac.uk/efo/EFO_0003166 node EFO_0009524 female genital tract fistula null http://www.ebi.ac.uk/efo/EFO_0009524 node EFO_0004397 Theiler stage 5 null http://www.ebi.ac.uk/efo/EFO_0004397 node Orphanet_293848 Right temporal lobar atrophy null http://www.orpha.net/ORDO/Orphanet_293848 node EFO_1001868 congenital contractures of the limbs and face, hypotonia, and developmental delay null http://www.ebi.ac.uk/efo/EFO_1001868 node UBERON_6001734 larval labral segment null http://purl.obolibrary.org/obo/UBERON_6001734 node HP_0000327 Hypoplasia of the maxilla null http://purl.obolibrary.org/obo/HP_0000327 node Orphanet_89839 Epidermolysis bullosa simplex superficialis null http://www.orpha.net/ORDO/Orphanet_89839 node EFO_0009264 maximum cigarettes per day measurement null http://www.ebi.ac.uk/efo/EFO_0009264 node EFO_0006439 HOP62 null http://www.ebi.ac.uk/efo/EFO_0006439 node MONDO_0020629 microcephaly, growth restriction and increased sister chromatid exchange null http://purl.obolibrary.org/obo/MONDO_0020629 node Orphanet_79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency null http://www.orpha.net/ORDO/Orphanet_79644 node Orphanet_397755 Periodic paralysis with transient compartment-like syndrome null http://www.orpha.net/ORDO/Orphanet_397755 node NCBITaxon_121555 Senecio squalidus subsp. squalidus null http://purl.obolibrary.org/obo/NCBITaxon_121555 node CL_0001012 CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor Originally described in the dendritic cell ontology (DC_CL:1110000)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001012 node CHEBI_35476 antipsychotic drug null http://purl.obolibrary.org/obo/CHEBI_35476 node UBERON_0001134 skeletal muscle tissue null http://purl.obolibrary.org/obo/UBERON_0001134 node NCBITaxon_3347 Pinus radiata null http://purl.obolibrary.org/obo/NCBITaxon_3347 node CLO_0013086 GM17286 null http://purl.obolibrary.org/obo/CLO_0013086 node EFO_0009612 jaw fracture null http://www.ebi.ac.uk/efo/EFO_0009612 node Orphanet_101049 Familial hypocalciuric hypercalcemia type 2 null http://www.orpha.net/ORDO/Orphanet_101049 node EFO_0003662 obsolete_branchiostegal ray 3 null http://www.ebi.ac.uk/efo/EFO_0003662 node Orphanet_293936 EDICT syndrome null http://www.orpha.net/ORDO/Orphanet_293936 node EFO_1001956 gallbladder carcinoma null http://www.ebi.ac.uk/efo/EFO_1001956 node CLO_0022362 AG11696 null http://purl.obolibrary.org/obo/CLO_0022362 node MONDO_0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade null http://purl.obolibrary.org/obo/MONDO_0015062 node EFO_0003475 obsolete_hypochord null http://www.ebi.ac.uk/efo/EFO_0003475 node EFO_1001779 chronic myelomonocytic leukemia null http://www.ebi.ac.uk/efo/EFO_1001779 node Orphanet_251046 6p22 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_251046 node EFO_0009352 Anti-Helicobacter pylori IgG measurement null http://www.ebi.ac.uk/efo/EFO_0009352 node EFO_0010397 sphingomyelin 24:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010397 node EFO_0004291 braces null http://www.ebi.ac.uk/efo/EFO_0004291 node MONDO_0021638 low grade astrocytic tumor null http://purl.obolibrary.org/obo/MONDO_0021638 node EFO_1001082 panuveitis null http://www.ebi.ac.uk/efo/EFO_1001082 node EFO_1000060 intestinal disaccharide deficiency and disaccharide malabsorption null http://www.ebi.ac.uk/efo/EFO_1000060 node EFO_0003563 obsolete_I-YSL null http://www.ebi.ac.uk/efo/EFO_0003563 node EFO_0008308 tumor necrosis factor beta measurement null http://www.ebi.ac.uk/efo/EFO_0008308 node EO_0001046 limited phosphate treatment null http://purl.obolibrary.org/obo/EO_0001046 node NCBITaxon_3656 Cucumis melo null http://purl.obolibrary.org/obo/NCBITaxon_3656 node UBERON_0001926 lateral geniculate body null http://purl.obolibrary.org/obo/UBERON_0001926 node Orphanet_93930 Bladder exstrophy null http://www.orpha.net/ORDO/Orphanet_93930 node Orphanet_169464 Primary CD59 deficiency null http://www.orpha.net/ORDO/Orphanet_169464 node UBERON_0007135 neural keel null http://purl.obolibrary.org/obo/UBERON_0007135 node UBERON_0001310 umbilical artery null http://purl.obolibrary.org/obo/UBERON_0001310 node EFO_1000623 Vulvar Lichen Sclerosus null http://www.ebi.ac.uk/efo/EFO_1000623 node MONDO_0014801 even-plus syndrome null http://purl.obolibrary.org/obo/MONDO_0014801 node EFO_0003949 eye color null http://www.ebi.ac.uk/efo/EFO_0003949 node MONDO_0021303 adenoma of small intestine null http://purl.obolibrary.org/obo/MONDO_0021303 node UBERON_0005497 non-neural ectoderm Gene notes: One of the first genes to be expressed in nonneural ectoderm in amphioxus is BMP2/4 (Panopoulou et al. 1998). BMP2/4 homologues appear to have a very ancient role in distinguishing neural from nonneural ectoderm; in Drosophila as well as in amphioxus and vertebrates, BMP2/4 homologues are expressed in nonneural ectoderm and function in distinguishing neural from nonneural ectoderm (Francois & Bier, 1995 ; Sasai et al. 1995 ; Wilson & Hemmati-Brivanlou, 1995; Panopoulou et al. 1998). A change in level of BMP2/4 from very high in nonneural ectoderm to low in neural ectoderm appears to be a key factor in development of neural crest (Baker & Bronner-Fraser,1997a,1997b;Erickson&Reedy,1998;Marchantet al.1998 ;Selleck et al. 1998). http://purl.obolibrary.org/obo/UBERON_0005497 node HP_0100607 Dysmenorrhea null http://purl.obolibrary.org/obo/HP_0100607 node NCBITaxon_5507 Fusarium oxysporum null http://purl.obolibrary.org/obo/NCBITaxon_5507 node Orphanet_1198 Colonic atresia null http://www.orpha.net/ORDO/Orphanet_1198 node Orphanet_100054 Hereditary angioedema type 3 null http://www.orpha.net/ORDO/Orphanet_100054 node MONDO_0000524 mixed extragonadal germ cell cancer null http://purl.obolibrary.org/obo/MONDO_0000524 node NCBITaxon_554 Pectobacterium carotovorum null http://purl.obolibrary.org/obo/NCBITaxon_554 node EFO_1000230 Endolymphatic Sac Tumor null http://www.ebi.ac.uk/efo/EFO_1000230 node MONDO_0004427 supraglottis neoplasm null http://purl.obolibrary.org/obo/MONDO_0004427 node EFO_1000711 hyperpigmentation of eyelid null http://www.ebi.ac.uk/efo/EFO_1000711 node EFO_0008992 MERFISH null http://www.ebi.ac.uk/efo/EFO_0008992 node MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder null http://purl.obolibrary.org/obo/MONDO_0018397 node EFO_1000347 Malignancy in Giant Cell Tumor of Bone null http://www.ebi.ac.uk/efo/EFO_1000347 node MONDO_0030059 developmental and epileptic encephalopathy, 87 null http://purl.obolibrary.org/obo/MONDO_0030059 node GO_0030313 cell envelope null http://purl.obolibrary.org/obo/GO_0030313 node Orphanet_363705 Craniofaciofrontodigital syndrome null http://www.orpha.net/ORDO/Orphanet_363705 node Orphanet_262196 Partial duplication of chromosome 2 null http://www.orpha.net/ORDO/Orphanet_262196 node Orphanet_1305 Feingold syndrome null http://www.orpha.net/ORDO/Orphanet_1305 node Orphanet_2953 Ehlers-Danlos syndrome, musculocontractural type null http://www.orpha.net/ORDO/Orphanet_2953 node EFO_0006490 SK23 null http://www.ebi.ac.uk/efo/EFO_0006490 node Orphanet_96177 Ring chromosome 15 null http://www.orpha.net/ORDO/Orphanet_96177 node CHEBI_62932 mycophenolate null http://purl.obolibrary.org/obo/CHEBI_62932 node EFO_0010006 scM&T-seq null http://www.ebi.ac.uk/efo/EFO_0010006 node NCBITaxon_71647 Pinus pinaster null http://purl.obolibrary.org/obo/NCBITaxon_71647 node HP_0008348 Decreased circulating IgG2 level null http://purl.obolibrary.org/obo/HP_0008348 node EFO_0005017 non polyA RNA null http://www.ebi.ac.uk/efo/EFO_0005017 node CHEBI_64390 N-hexanoylglycine null http://purl.obolibrary.org/obo/CHEBI_64390 node EFO_0005602 age at alcohol diagnosis The age at which an alcohol diagnosis was made in a human patient http://www.ebi.ac.uk/efo/EFO_0005602 node CL_0002533 immature CD16-positive myeloid dendritic cell null http://purl.obolibrary.org/obo/CL_0002533 node UBERON_0001945 superior colliculus ). In hagfish, lamprey, and shark it is a relatively small structure, but in teleost fish it is greatly expanded, in some cases becoming the largest structure in the brain. (See the adjoining drawing of a codfish brain.) In amphibians, reptiles, and especially birds it is also a very significant component, but in mammals it is dwarfed by the massive expansion of the cerebral cortex. http://purl.obolibrary.org/obo/UBERON_0001945 node UO_0000129 absorbed dose unit null http://purl.obolibrary.org/obo/UO_0000129 node EFO_0007346 lipoatrophic diabetes Editor note: consider merging http://www.ebi.ac.uk/efo/EFO_0007346 node NCBITaxon_202457 Callicebus cupreus null http://purl.obolibrary.org/obo/NCBITaxon_202457 node MONDO_0014795 exercise intolerance, riboflavin-responsive null http://purl.obolibrary.org/obo/MONDO_0014795 node Orphanet_96078 16p13.3 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_96078 node EFO_0007086 HUES6 null http://www.ebi.ac.uk/efo/EFO_0007086 node NCBITaxon_10089 Mus caroli null http://purl.obolibrary.org/obo/NCBITaxon_10089 node EFO_0008975 TRAP-Seq null http://www.ebi.ac.uk/efo/EFO_0008975 node MONDO_0021126 syndromic or isolated null http://purl.obolibrary.org/obo/MONDO_0021126 node Orphanet_79189 Peroxisome biogenesis disorder-Zellweger syndrome spectrum null http://www.orpha.net/ORDO/Orphanet_79189 node EFO_1002000 Takotsubo cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_1002000 node EFO_0007434 pharyngoconjunctival fever null http://www.ebi.ac.uk/efo/EFO_0007434 node EFO_0007247 echovirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007247 node EFO_0001297 gastrula shield null http://www.ebi.ac.uk/efo/EFO_0001297 node BTO_0000664 obsolete_K-562 cell null http://purl.obolibrary.org/obo/BTO_0000664 node MONDO_0020592 disease of pharynx null http://purl.obolibrary.org/obo/MONDO_0020592 node Orphanet_352740 Ocular albinism with congenital sensorineural deafness null http://www.orpha.net/ORDO/Orphanet_352740 node EFO_0007174 blastomycosis null http://www.ebi.ac.uk/efo/EFO_0007174 node GO_0043278 response to morphine null http://purl.obolibrary.org/obo/GO_0043278 node Orphanet_2497 Upper limb mesomelic dysplasia null http://www.orpha.net/ORDO/Orphanet_2497 node Orphanet_101110 Spinocerebellar ataxia type 20 null http://www.orpha.net/ORDO/Orphanet_101110 node EFO_0008876 Pvu-Seal-seq null http://www.ebi.ac.uk/efo/EFO_0008876 node HP_0002840 Lymphadenitis null http://purl.obolibrary.org/obo/HP_0002840 node EFO_0009215 Hemoglobin C Measurement null http://www.ebi.ac.uk/efo/EFO_0009215 node EFO_0000878 obsolete_zeugopod null http://www.ebi.ac.uk/efo/EFO_0000878 node Orphanet_217335 MACS syndrome null http://www.orpha.net/ORDO/Orphanet_217335 node EFO_1001798 immunoproliferative small intestinal disease null http://www.ebi.ac.uk/efo/EFO_1001798 node Orphanet_157788 Hypospadias - hypertelorism - coloboma and deafness null http://www.orpha.net/ORDO/Orphanet_157788 node EFO_0009028 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome null http://www.ebi.ac.uk/efo/EFO_0009028 node EFO_0006317 response to thiopurine null http://www.ebi.ac.uk/efo/EFO_0006317 node EFO_0001385 obsolete_tibialis anterior muscle null http://www.ebi.ac.uk/efo/EFO_0001385 node HP_0001495 Carpal osteolysis null http://purl.obolibrary.org/obo/HP_0001495 node UO_0000010 second null http://purl.obolibrary.org/obo/UO_0000010 node EFO_0002171 DoTc2 null http://www.ebi.ac.uk/efo/EFO_0002171 node HP_0100749 Chest pain null http://purl.obolibrary.org/obo/HP_0100749 node NCBITaxon_1520 Clostridium beijerinckii null http://purl.obolibrary.org/obo/NCBITaxon_1520 node MONDO_0044972 eosinophil disease null http://purl.obolibrary.org/obo/MONDO_0044972 node EFO_0000662 polyp null http://www.ebi.ac.uk/efo/EFO_0000662 node FBbt_00005662 embryonic central brain null http://purl.obolibrary.org/obo/FBbt_00005662 node EFO_1000929 Escherichia coli meningitis null http://www.ebi.ac.uk/efo/EFO_1000929 node EFO_0001069 nutritional disorder null http://www.ebi.ac.uk/efo/EFO_0001069 node Orphanet_679 Malignant atrophic papulosis null http://www.orpha.net/ORDO/Orphanet_679 node EFO_0000485 obsolete_experimental design obsolete - synonym with experiment type http://www.ebi.ac.uk/efo/EFO_0000485 node Orphanet_370114 Combined cervical dystonia null http://www.orpha.net/ORDO/Orphanet_370114 node Orphanet_171617 Autosomal dominant spastic paraplegia type 38 null http://www.orpha.net/ORDO/Orphanet_171617 node EFO_0000966 obsolete_trunk null http://www.ebi.ac.uk/efo/EFO_0000966 node EFO_1001166 sciatic neuropathy null http://www.ebi.ac.uk/efo/EFO_1001166 node EFO_1000858 cerebellum cancer null http://www.ebi.ac.uk/efo/EFO_1000858 node Orphanet_1387 Cataract - intellectual disability - hypogonadism null http://www.orpha.net/ORDO/Orphanet_1387 node EFO_0004669 methodological variation design null http://www.ebi.ac.uk/efo/EFO_0004669 node NCBITaxon_330779 Sulfolobus acidocaldarius DSM 639 null http://purl.obolibrary.org/obo/NCBITaxon_330779 node EFO_0005596 vitamin metabolic disorder null http://www.ebi.ac.uk/efo/EFO_0005596 node EFO_0009116 vitamin supplement exposure measurement null http://www.ebi.ac.uk/efo/EFO_0009116 node EFO_0000779 Drosophila C virus infection null http://www.ebi.ac.uk/efo/EFO_0000779 node EFO_0008271 protein jagged-1 measurement null http://www.ebi.ac.uk/efo/EFO_0008271 node Orphanet_238769 1q44 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_238769 node UBERON_2001265 ovarian follicle stage II null http://purl.obolibrary.org/obo/UBERON_2001265 node NCBITaxon_162425 Emericella nidulans null http://purl.obolibrary.org/obo/NCBITaxon_162425 node CHEBI_63609 mefloquine null http://purl.obolibrary.org/obo/CHEBI_63609 node CHEBI_27995 3-methylbenzyl alcohol null http://purl.obolibrary.org/obo/CHEBI_27995 node Orphanet_221061 Hereditary cerebral cavernous malformation null http://www.orpha.net/ORDO/Orphanet_221061 node EFO_0010088 beverage consumption measurement null http://www.ebi.ac.uk/efo/EFO_0010088 node EFO_0000750 genotyping null http://www.ebi.ac.uk/efo/EFO_0000750 node Orphanet_1171 Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss null http://www.orpha.net/ORDO/Orphanet_1171 node EFO_0001157 GM12814 null http://www.ebi.ac.uk/efo/EFO_0001157 node Orphanet_251515 Distal arthrogryposis type 10 null http://www.orpha.net/ORDO/Orphanet_251515 node Orphanet_209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 null http://www.orpha.net/ORDO/Orphanet_209030 node EFO_0010486 glucuronate measurement null http://www.ebi.ac.uk/efo/EFO_0010486 node EFO_1001254 noise-induced hearing loss null http://www.ebi.ac.uk/efo/EFO_1001254 node Orphanet_1475 Renal coloboma syndrome null http://www.orpha.net/ORDO/Orphanet_1475 node EFO_0003968 angiosarcoma null http://www.ebi.ac.uk/efo/EFO_0003968 node EFO_0000386 crystal cell specific anlage null http://www.ebi.ac.uk/efo/EFO_0000386 node EFO_0005684 RNA-seq of coding RNA from single cells null http://www.ebi.ac.uk/efo/EFO_0005684 node CHEBI_50144 sodium pyruvate null http://purl.obolibrary.org/obo/CHEBI_50144 node EFO_0003805 interleukin-24 (Homo sapiens) null http://www.ebi.ac.uk/efo/EFO_0003805 node CHEBI_49575 diazepam null http://purl.obolibrary.org/obo/CHEBI_49575 node CL_0000941 thymic conventional dendritic cell In the mouse this cell expresses CD8-alpha-alpha. http://purl.obolibrary.org/obo/CL_0000941 node Orphanet_1873 Jalili syndrome null http://www.orpha.net/ORDO/Orphanet_1873 node EFO_0003115 EBC-1 null http://www.ebi.ac.uk/efo/EFO_0003115 node EFO_0008172 interleukin 15 receptor subunit alpha measurement null http://www.ebi.ac.uk/efo/EFO_0008172 node CHEBI_4393 (-)-demecolcine null http://purl.obolibrary.org/obo/CHEBI_4393 node HP_0004338 Abnormal circulating aromatic amino acid concentration null http://purl.obolibrary.org/obo/HP_0004338 node Orphanet_83617 Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis null http://www.orpha.net/ORDO/Orphanet_83617 node Orphanet_163956 X-linked intellectual disability, Nascimento type null http://www.orpha.net/ORDO/Orphanet_163956 node Orphanet_90039 Hemoglobin D disease null http://www.orpha.net/ORDO/Orphanet_90039 node EFO_0010574 epithelial cell adhesion molecule measurement null http://www.ebi.ac.uk/efo/EFO_0010574 node Orphanet_187 Citrullinemia null http://www.orpha.net/ORDO/Orphanet_187 node EFO_0002570 embryonic day 18.5 null http://www.ebi.ac.uk/efo/EFO_0002570 node MONDO_0004301 fibrosarcomatous osteosarcoma null http://purl.obolibrary.org/obo/MONDO_0004301 node EFO_0010411 triacylglycerol 50:4 measurement null http://www.ebi.ac.uk/efo/EFO_0010411 node Orphanet_1756 Caudal duplication null http://www.orpha.net/ORDO/Orphanet_1756 node CHEBI_30114 aluminium trichloride null http://purl.obolibrary.org/obo/CHEBI_30114 node HANCESTRO_0017 Oceanian null http://purl.obolibrary.org/obo/HANCESTRO_0017 node EFO_0003026 minimally differentiated acute myeloblastic leukemia null http://www.ebi.ac.uk/efo/EFO_0003026 node Orphanet_139447 Progressive cavitating leukoencephalopathy null http://www.orpha.net/ORDO/Orphanet_139447 node CLO_0027486 GM15226 null http://purl.obolibrary.org/obo/CLO_0027486 node EFO_1000402 Normal Breast-Like Subtype of Breast Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000402 node EFO_0010662 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies null http://www.ebi.ac.uk/efo/EFO_0010662 node EFO_0010457 Alpha ketoglutarate measurement null http://www.ebi.ac.uk/efo/EFO_0010457 node EFO_0005837 S2R+ null http://www.ebi.ac.uk/efo/EFO_0005837 node EFO_0004351 resting heart rate null http://www.ebi.ac.uk/efo/EFO_0004351 node EFO_0003424 obsolete_presumptive neural plate null http://www.ebi.ac.uk/efo/EFO_0003424 node Orphanet_25 Glutaryl-CoA dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_25 node CHEBI_8502 6-propyl-2-thiouracil null http://purl.obolibrary.org/obo/CHEBI_8502 node EFO_0005147 Columbia ecotype null http://www.ebi.ac.uk/efo/EFO_0005147 node CLO_0016564 GM17749 null http://purl.obolibrary.org/obo/CLO_0016564 node Orphanet_1844 Bone dysplasia, Azouz type null http://www.orpha.net/ORDO/Orphanet_1844 node EFO_0004053 CB4854 null http://www.ebi.ac.uk/efo/EFO_0004053 node EFO_0002894 amelanotic skin melanoma null http://www.ebi.ac.uk/efo/EFO_0002894 node EFO_0006797 neurofibrillary tangles measurement null http://www.ebi.ac.uk/efo/EFO_0006797 node EFO_0007844 forehead morphology measurement null http://www.ebi.ac.uk/efo/EFO_0007844 node EFO_0006917 spontaneous preterm birth null http://www.ebi.ac.uk/efo/EFO_0006917 node EFO_0003512 obsolete_metapterygoid null http://www.ebi.ac.uk/efo/EFO_0003512 node NCBITaxon_178876 Cryptococcus neoformans var. grubii null http://purl.obolibrary.org/obo/NCBITaxon_178876 node Orphanet_71529 Obesity due to melanocortin 4 receptor deficiency null http://www.orpha.net/ORDO/Orphanet_71529 node Orphanet_294023 Neonatal inflammatory skin and bowel disease null http://www.orpha.net/ORDO/Orphanet_294023 node Orphanet_262842 Partial duplication of the long arm of chromosome 2 null http://www.orpha.net/ORDO/Orphanet_262842 node EFO_0008994 spatial transcriptomics null http://www.ebi.ac.uk/efo/EFO_0008994 node EFO_0007904 susceptibility to childhood ear infection measurement null http://www.ebi.ac.uk/efo/EFO_0007904 node EFO_0002982 ILSXISS26/TejJ null http://www.ebi.ac.uk/efo/EFO_0002982 node EFO_0006885 leukoplakia of tongue null http://www.ebi.ac.uk/efo/EFO_0006885 node EFO_0007727 CAST/EiJ null http://www.ebi.ac.uk/efo/EFO_0007727 node NCBITaxon_336722 Zymoseptoria tritici IPO323 null http://purl.obolibrary.org/obo/NCBITaxon_336722 node EFO_0006698 NCI-H920 null http://www.ebi.ac.uk/efo/EFO_0006698 node EFO_0007037 cytomegalovirus seropositivity null http://www.ebi.ac.uk/efo/EFO_0007037 node NCBITaxon_498216 Lactobacillus casei str. Zhang null http://purl.obolibrary.org/obo/NCBITaxon_498216 node MONDO_0024610 parasitic skin disease null http://purl.obolibrary.org/obo/MONDO_0024610 node CHEBI_15724 trimethylamine N-oxide null http://purl.obolibrary.org/obo/CHEBI_15724 node Orphanet_263717 X chromosome number anomaly with female phenotype null http://www.orpha.net/ORDO/Orphanet_263717 node MONDO_0002480 endometrioid tumor null http://purl.obolibrary.org/obo/MONDO_0002480 node HP_0003199 Decreased muscle mass null http://purl.obolibrary.org/obo/HP_0003199 node Orphanet_98993 Posterior polar cataract null http://www.orpha.net/ORDO/Orphanet_98993 node CLO_0011391 GM09585 null http://purl.obolibrary.org/obo/CLO_0011391 node EFO_0000897 pharyngeal nervous system null http://www.ebi.ac.uk/efo/EFO_0000897 node EFO_0009681 post term pregnancy null http://www.ebi.ac.uk/efo/EFO_0009681 node OBI_0000785 controlled variable specification null http://purl.obolibrary.org/obo/OBI_0000785 node EFO_1002019 oligoarticular juvenile idiopathic arthritis null http://www.ebi.ac.uk/efo/EFO_1002019 node Orphanet_309458 Disorder of O-N-acetylgalactosaminylglycan synthesis null http://www.orpha.net/ORDO/Orphanet_309458 node EFO_0002190 HDMYZ null http://www.ebi.ac.uk/efo/EFO_0002190 node EFO_0009295 polyarteritis nodosa, childhoood-onset null http://www.ebi.ac.uk/efo/EFO_0009295 node HP_0003306 Spinal rigidity null http://purl.obolibrary.org/obo/HP_0003306 node Orphanet_3217 Deafness - small bowel diverticulosis - neuropathy null http://www.orpha.net/ORDO/Orphanet_3217 node Orphanet_268843 Malformation of the neurenteric canal, spinal cord and column null http://www.orpha.net/ORDO/Orphanet_268843 node EFO_1000870 CNS demyelinating autoimmune disease null http://www.ebi.ac.uk/efo/EFO_1000870 node Orphanet_391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome null http://www.orpha.net/ORDO/Orphanet_391366 node GO_1901557 response to fenofibrate null http://purl.obolibrary.org/obo/GO_1901557 node Orphanet_293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome null http://www.orpha.net/ORDO/Orphanet_293967 node NCBITaxon_33892 Mycobacterium bovis BCG null http://purl.obolibrary.org/obo/NCBITaxon_33892 node BTO_0000256 myoblast cell line null http://purl.obolibrary.org/obo/BTO_0000256 node EFO_0009196 Pulmonary arterial hypertension associated with connective tissue disease null http://www.ebi.ac.uk/efo/EFO_0009196 node ZEA_0015075 cob null http://purl.obolibrary.org/obo/ZEA_0015075 node Orphanet_207073 Qualitative or quantitative defects of dysferlin null http://www.orpha.net/ORDO/Orphanet_207073 node Orphanet_319494 Familial nonmedullary thyroid carcinoma Note the OMIM phenotypic series lacks a member classified by ORDO http://www.orpha.net/ORDO/Orphanet_319494 node EFO_0008679 CEL-seq null http://www.ebi.ac.uk/efo/EFO_0008679 node Orphanet_79500 DOORS syndrome null http://www.orpha.net/ORDO/Orphanet_79500 node NCBITaxon_64187 Xanthomonas oryzae pv. oryzae null http://purl.obolibrary.org/obo/NCBITaxon_64187 node Orphanet_388 Hirschsprung disease null http://www.orpha.net/ORDO/Orphanet_388 node NCBITaxon_9669 Mustela putorius furo null http://purl.obolibrary.org/obo/NCBITaxon_9669 node EFO_0001715 volume null http://www.ebi.ac.uk/efo/EFO_0001715 node EFO_1001331 Genital neoplasm, female null http://www.ebi.ac.uk/efo/EFO_1001331 node NCBITaxon_400682 Amphimedon queenslandica null http://purl.obolibrary.org/obo/NCBITaxon_400682 node Orphanet_1552 Currarino triad null http://www.orpha.net/ORDO/Orphanet_1552 node MONDO_0002855 ectomesenchymoma null http://purl.obolibrary.org/obo/MONDO_0002855 node EFO_1001812 myringosclerosis null http://www.ebi.ac.uk/efo/EFO_1001812 node Orphanet_93334 Postaxial polydactyly type A null http://www.orpha.net/ORDO/Orphanet_93334 node Orphanet_300382 Progeroid and marfanoid aspect-lipodystrophy syndrome null http://www.orpha.net/ORDO/Orphanet_300382 node CHEBI_35221 antimetabolite role null http://purl.obolibrary.org/obo/CHEBI_35221 node BTO_0001130 prostate gland cancer cell null http://purl.obolibrary.org/obo/BTO_0001130 node EFO_1000156 Central Nervous System Anaplastic Large Cell Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000156 node EFO_0001936 obsolete_ventral striatum null http://www.ebi.ac.uk/efo/EFO_0001936 node EFO_0010430 triacylglycerol 56:3 measurement null http://www.ebi.ac.uk/efo/EFO_0010430 node EFO_0009713 number of siblings null http://www.ebi.ac.uk/efo/EFO_0009713 node EFO_0003659 obsolete_palatoquadrate arch null http://www.ebi.ac.uk/efo/EFO_0003659 node EFO_0002173 EB2 null http://www.ebi.ac.uk/efo/EFO_0002173 node EFO_0001246 SUM52PE null http://www.ebi.ac.uk/efo/EFO_0001246 node EFO_0010253 Menke-Hennekam syndrome 2 null http://www.ebi.ac.uk/efo/EFO_0010253 node NCBITaxon_1063 Rhodobacter sphaeroides null http://purl.obolibrary.org/obo/NCBITaxon_1063 node CL_0000151 secretory cell null http://purl.obolibrary.org/obo/CL_0000151 node UBERON_0001690 ear null http://purl.obolibrary.org/obo/UBERON_0001690 node MONDO_0032919 intellectual developmental disorder 62 null http://purl.obolibrary.org/obo/MONDO_0032919 node Orphanet_932 Achondrogenesis null http://www.orpha.net/ORDO/Orphanet_932 node GO_0072522 purine-containing compound biosynthetic process null http://purl.obolibrary.org/obo/GO_0072522 node EFO_1001900 myoclonic epilepsy null http://www.ebi.ac.uk/efo/EFO_1001900 node EFO_0004922 GM00719 null http://www.ebi.ac.uk/efo/EFO_0004922 node MONDO_0043707 mediastinal disease null http://purl.obolibrary.org/obo/MONDO_0043707 node EFO_1000339 Lymphangiosarcoma null http://www.ebi.ac.uk/efo/EFO_1000339 node PO_0007064 LP.12 twelve leaves visible stage null http://purl.obolibrary.org/obo/PO_0007064 node MONDO_0003180 cutaneous adenocystic carcinoma null http://purl.obolibrary.org/obo/MONDO_0003180 node GO_0051646 mitochondrion localization null http://purl.obolibrary.org/obo/GO_0051646 node CHEBI_85743 triacylglycerol 54:2 null http://purl.obolibrary.org/obo/CHEBI_85743 node Orphanet_371007 Congenital muscular dystrophy with hyperlaxity null http://www.orpha.net/ORDO/Orphanet_371007 node Orphanet_284790 Qualitative or quantitative defects of tropomyosin null http://www.orpha.net/ORDO/Orphanet_284790 node EFO_0009801 number of non-cancer illnesses, self-reported null http://www.ebi.ac.uk/efo/EFO_0009801 node EFO_0002261 NCI-H1651 null http://www.ebi.ac.uk/efo/EFO_0002261 node EFO_0001334 obsolete_ileum null http://www.ebi.ac.uk/efo/EFO_0001334 node EFO_0009614 clavicle fracture null http://www.ebi.ac.uk/efo/EFO_0009614 node GO_0006793 phosphorus metabolic process null http://purl.obolibrary.org/obo/GO_0006793 node Orphanet_217026 Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type null http://www.orpha.net/ORDO/Orphanet_217026 node Orphanet_183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen null http://www.orpha.net/ORDO/Orphanet_183548 node NCBITaxon_29176 Neospora caninum null http://purl.obolibrary.org/obo/NCBITaxon_29176 node Orphanet_83 Antley-Bixler syndrome null http://www.orpha.net/ORDO/Orphanet_83 node EFO_1000807 anterior cerebral artery infarction null http://www.ebi.ac.uk/efo/EFO_1000807 node MONDO_0018698 hereditary neuroendocrine tumor of small intestine null http://purl.obolibrary.org/obo/MONDO_0018698 node EFO_0010904 anti-BK polyomavirus antibody measurement null http://www.ebi.ac.uk/efo/EFO_0010904 node GO_0071214 cellular response to abiotic stimulus Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0071214 node EFO_0010717 afebrile null http://www.ebi.ac.uk/efo/EFO_0010717 node HP_0011800 Midface retrusion null http://purl.obolibrary.org/obo/HP_0011800 node MONDO_0021385 extrahepatic bile duct neoplasm null http://purl.obolibrary.org/obo/MONDO_0021385 node EFO_0005407 psychosis null http://www.ebi.ac.uk/efo/EFO_0005407 node Orphanet_363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome null http://www.orpha.net/ORDO/Orphanet_363741 node EFO_0002509 progressive external ophthalmoplegia null http://www.ebi.ac.uk/efo/EFO_0002509 node GO_0003092 renal water retention null http://purl.obolibrary.org/obo/GO_0003092 node Orphanet_98584 Malignant tumor of palpebral epidermis null http://www.orpha.net/ORDO/Orphanet_98584 node EFO_0006741 QGP-1 null http://www.ebi.ac.uk/efo/EFO_0006741 node HP_0012868 Sperm tail anomaly Defective sperm flagella are the principal cause of sperm motility disorders. http://purl.obolibrary.org/obo/HP_0012868 node MONDO_0019098 autoimmune thrombocytopenia null http://purl.obolibrary.org/obo/MONDO_0019098 node Orphanet_139039 Orofacial clefting syndrome null http://www.orpha.net/ORDO/Orphanet_139039 node EFO_1000708 hereditary papulotranslucent acrokeratoderma null http://www.ebi.ac.uk/efo/EFO_1000708 node Orphanet_1237 Beemer-Ertbruggen syndrome null http://www.orpha.net/ORDO/Orphanet_1237 node EFO_0000264 antibody null http://www.ebi.ac.uk/efo/EFO_0000264 node Orphanet_99015 Spastic paraplegia type 2 null http://www.orpha.net/ORDO/Orphanet_99015 node EFO_0010805 massively parallel signature sequencing null http://www.ebi.ac.uk/efo/EFO_0010805 node EFO_0000077 CS57731 null http://www.ebi.ac.uk/efo/EFO_0000077 node Orphanet_2008 Acro-cardio-facial syndrome null http://www.orpha.net/ORDO/Orphanet_2008 node EFO_0006962 Mt-0 null http://www.ebi.ac.uk/efo/EFO_0006962 node MONDO_0000390 vitelliform macular dystrophy null http://purl.obolibrary.org/obo/MONDO_0000390 node Orphanet_324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome null http://www.orpha.net/ORDO/Orphanet_324561 node Orphanet_98672 Autosomal dominant optic atrophy null http://www.orpha.net/ORDO/Orphanet_98672 node EFO_0007591 bone mineral accretion measurement null http://www.ebi.ac.uk/efo/EFO_0007591 node MONDO_0032882 Heyn-Sproul-Jackson syndrome null http://purl.obolibrary.org/obo/MONDO_0032882 node CHEBI_38000 uniconazole-P null http://purl.obolibrary.org/obo/CHEBI_38000 node EFO_0004055 CB4856 null http://www.ebi.ac.uk/efo/EFO_0004055 node MONDO_0021080 blood vessel neoplasm null http://purl.obolibrary.org/obo/MONDO_0021080 node EFO_0008868 PRO-cap null http://www.ebi.ac.uk/efo/EFO_0008868 node EFO_0000165 CS57923 null http://www.ebi.ac.uk/efo/EFO_0000165 node Orphanet_308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form null http://www.orpha.net/ORDO/Orphanet_308638 node UBERON_0005569 rhombomere 2 null http://purl.obolibrary.org/obo/UBERON_0005569 node Orphanet_90783 46,XY disorder of sex development due to testosterone synthesis defect null http://www.orpha.net/ORDO/Orphanet_90783 node Orphanet_85297 X-linked spinocerebellar ataxia type 3 null http://www.orpha.net/ORDO/Orphanet_85297 node MONDO_0000589 autoimmune disease of musculoskeletal system null http://purl.obolibrary.org/obo/MONDO_0000589 node MONDO_0042485 infective arthritis null http://purl.obolibrary.org/obo/MONDO_0042485 node EFO_0008650 Advanved Chia-PET null http://www.ebi.ac.uk/efo/EFO_0008650 node CHEBI_22676 auxin role null http://purl.obolibrary.org/obo/CHEBI_22676 node MONDO_0002354 benign laryngeal neoplasm null http://purl.obolibrary.org/obo/MONDO_0002354 node UBERON_0001886 choroid plexus null http://purl.obolibrary.org/obo/UBERON_0001886 node CHEBI_48558 roxindole null http://purl.obolibrary.org/obo/CHEBI_48558 node EFO_0002843 PC-10 null http://www.ebi.ac.uk/efo/EFO_0002843 node GO_0008517 folic acid transporter activity null http://purl.obolibrary.org/obo/GO_0008517 node Orphanet_352649 Brain dopamine-serotonin vesicular transport disease null http://www.orpha.net/ORDO/Orphanet_352649 node FBbt_00005749 embryonic ventral apodeme null http://purl.obolibrary.org/obo/FBbt_00005749 node FBbt_00017008 longitudinal visceral muscle primordium null http://purl.obolibrary.org/obo/FBbt_00017008 node MONDO_0030071 retinitis pigmentosa 89 null http://purl.obolibrary.org/obo/MONDO_0030071 node GO_0009235 cobalamin metabolic process null http://purl.obolibrary.org/obo/GO_0009235 node EFO_0009460 ACPA-negative rheumatoid arthritis null http://www.ebi.ac.uk/efo/EFO_0009460 node MONDO_0014608 mandibulofacial dysostosis with alopecia null http://purl.obolibrary.org/obo/MONDO_0014608 node NCBITaxon_290397 Anaeromyxobacter dehalogenans 2CP-C null http://purl.obolibrary.org/obo/NCBITaxon_290397 node EFO_0007535 verrucous carcinoma null http://www.ebi.ac.uk/efo/EFO_0007535 node EFO_0006608 KCI-MOH1 null http://www.ebi.ac.uk/efo/EFO_0006608 node Orphanet_244 Primary ciliary dyskinesia Editor note: we deliberately merge two MESHes here http://www.orpha.net/ORDO/Orphanet_244 node UBERON_0000994 spermathecum null http://purl.obolibrary.org/obo/UBERON_0000994 node Orphanet_268377 Total spina bifida aperta null http://www.orpha.net/ORDO/Orphanet_268377 node Orphanet_2353 Schilbach-Rott syndrome null http://www.orpha.net/ORDO/Orphanet_2353 node MONDO_0020794 colorectal medullary carcinoma null http://purl.obolibrary.org/obo/MONDO_0020794 node EFO_0002931 unit per kilogram null http://www.ebi.ac.uk/efo/EFO_0002931 node MONDO_0029144 extraoral halitosis due to methanethiol oxidase deficiency null http://purl.obolibrary.org/obo/MONDO_0029144 node Orphanet_309252 Atypical Gaucher disease due to saposin C deficiency null http://www.orpha.net/ORDO/Orphanet_309252 node EFO_0003671 obsolete_vagal ganglion 2 null http://www.ebi.ac.uk/efo/EFO_0003671 node EFO_0002744 NOD.B10 null http://www.ebi.ac.uk/efo/EFO_0002744 node EFO_0009417 CCL23 measurement null http://www.ebi.ac.uk/efo/EFO_0009417 node Orphanet_332 Congenital intrinsic factor deficiency null http://www.orpha.net/ORDO/Orphanet_332 node EFO_0007623 suicide behaviour null http://www.ebi.ac.uk/efo/EFO_0007623 node Orphanet_275534 Myostatin-related muscle hypertrophy null http://www.orpha.net/ORDO/Orphanet_275534 node Orphanet_262211 Partial trisomy/tetrasomy of chromosome 5 null http://www.orpha.net/ORDO/Orphanet_262211 node Orphanet_209056 Qualitative or quantitative defects of telethonin null http://www.orpha.net/ORDO/Orphanet_209056 node Orphanet_93426 Short rib dysplasia null http://www.orpha.net/ORDO/Orphanet_93426 node EFO_0001130 GM12005 null http://www.ebi.ac.uk/efo/EFO_0001130 node EFO_0008385 visual acuity measurement null http://www.ebi.ac.uk/efo/EFO_0008385 node EFO_0007436 phencyclidine abuse null http://www.ebi.ac.uk/efo/EFO_0007436 node HP_0001679 Abnormal aortic morphology null http://purl.obolibrary.org/obo/HP_0001679 node Orphanet_740 Hutchinson-Gilford progeria syndrome null http://www.orpha.net/ORDO/Orphanet_740 node MONDO_0024301 acquired mineral metabolism disease null http://purl.obolibrary.org/obo/MONDO_0024301 node MONDO_0020677 sudden hearing loss disorder null http://purl.obolibrary.org/obo/MONDO_0020677 node MONDO_0015829 non-syndromic uterovaginal malformation null http://purl.obolibrary.org/obo/MONDO_0015829 node CHEBI_47519 cis-ketoconazole null http://purl.obolibrary.org/obo/CHEBI_47519 node UBERON_0000108 blastula stage null http://purl.obolibrary.org/obo/UBERON_0000108 node Orphanet_100981 Autosomal recessive complex spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_100981 node HP_0004418 Thrombophlebitis null http://purl.obolibrary.org/obo/HP_0004418 node GO_0038023 signaling receptor activity null http://purl.obolibrary.org/obo/GO_0038023 node Orphanet_238269 Familial renal amyloidosis due to Apolipoprotein AII variant null http://www.orpha.net/ORDO/Orphanet_238269 node MONDO_0000005 alopecia, isolated null http://purl.obolibrary.org/obo/MONDO_0000005 node CHEBI_16815 enol-phenylpyruvate null http://purl.obolibrary.org/obo/CHEBI_16815 node NCBITaxon_4565 Triticum aestivum null http://purl.obolibrary.org/obo/NCBITaxon_4565 node EFO_0001013 obsolete_root nodule null http://www.ebi.ac.uk/efo/EFO_0001013 node EFO_0008473 insulin response measurement null http://www.ebi.ac.uk/efo/EFO_0008473 node EFO_0003360 obsolete_ventral imaginal precursor null http://www.ebi.ac.uk/efo/EFO_0003360 node EFO_0004156 Standard Flowgram Format (SFF) null http://www.ebi.ac.uk/efo/EFO_0004156 node UBERON_0007127 pharyngeal pouch 6 null http://purl.obolibrary.org/obo/UBERON_0007127 node EFO_0001411 obsolete_leg null http://www.ebi.ac.uk/efo/EFO_0001411 node EFO_0000851 obsolete_duodenum null http://www.ebi.ac.uk/efo/EFO_0000851 node GO_0120060 regulation of gastric emptying null http://purl.obolibrary.org/obo/GO_0120060 node Orphanet_2095 Gorlin-Chaudhry-Moss syndrome null http://www.orpha.net/ORDO/Orphanet_2095 node Orphanet_295199 Synpolydactyly type 3 null http://www.orpha.net/ORDO/Orphanet_295199 node EFO_1000428 Ovarian Serous Adenofibroma null http://www.ebi.ac.uk/efo/EFO_1000428 node ZFA_0000226 lateral ethmoid null http://purl.obolibrary.org/obo/ZFA_0000226 node EFO_0004244 interstitial lung disease null http://www.ebi.ac.uk/efo/EFO_0004244 node EFO_0003317 anti-CD3 null http://www.ebi.ac.uk/efo/EFO_0003317 node HP_0100545 Arterial stenosis null http://purl.obolibrary.org/obo/HP_0100545 node Orphanet_306577 Sodium channelopathy-related small fiber neuropathy null http://www.orpha.net/ORDO/Orphanet_306577 node Orphanet_269008 Isolated focal cortical dysplasia type IIb null http://www.orpha.net/ORDO/Orphanet_269008 node Orphanet_300547 Autosomal recessive infantile hypercalcemia null http://www.orpha.net/ORDO/Orphanet_300547 node Orphanet_2183 Hydrocephalus - obesity - hypogonadism null http://www.orpha.net/ORDO/Orphanet_2183 node EFO_1000516 Salivary Gland Carcinoma ex Pleomorphic Adenoma Editor note: DO class placed here as it denotes a salivary gland specific form http://www.ebi.ac.uk/efo/EFO_1000516 node MONDO_0012590 XFE progeroid syndrome null http://purl.obolibrary.org/obo/MONDO_0012590 node EFO_0005392 LAPC-4 null http://www.ebi.ac.uk/efo/EFO_0005392 node EFO_0002567 embryonic day 16.5 null http://www.ebi.ac.uk/efo/EFO_0002567 node CLO_0013984 GM17160 null http://purl.obolibrary.org/obo/CLO_0013984 node EFO_0010613 tumor necrosis factor ligand superfamily member 14 measurement null http://www.ebi.ac.uk/efo/EFO_0010613 node EFO_0010408 triacylglycerol 50:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010408 node CL_0000545 T-helper 1 cell This cell type is compatible with the HIPC Lyoplate markers for 'Th1 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 1 T cells. http://purl.obolibrary.org/obo/CL_0000545 node CLO_0016515 GM17823 null http://purl.obolibrary.org/obo/CLO_0016515 node EFO_0004127 hyperthyroxinemia null http://www.ebi.ac.uk/efo/EFO_0004127 node HP_0100633 Esophagitis null http://purl.obolibrary.org/obo/HP_0100633 node Orphanet_363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency null http://www.orpha.net/ORDO/Orphanet_363432 node Orphanet_137639 Leukoencephalopathy - ataxia - hypodontia - hypomyelination null http://www.orpha.net/ORDO/Orphanet_137639 node UBERON_2000677 segmental intercostal artery null http://purl.obolibrary.org/obo/UBERON_2000677 node EFO_0005094 P wave duration null http://www.ebi.ac.uk/efo/EFO_0005094 node EFO_0003608 obsolete_rhombomere 1 null http://www.ebi.ac.uk/efo/EFO_0003608 node EFO_0004730 hormone measurement null http://www.ebi.ac.uk/efo/EFO_0004730 node EFO_0004525 obsolete_bitter taste sensitivity null http://www.ebi.ac.uk/efo/EFO_0004525 node EFO_0010202 cDNA read size null http://www.ebi.ac.uk/efo/EFO_0010202 node EFO_1000123 Bile Duct Adenoma null http://www.ebi.ac.uk/efo/EFO_1000123 node EFO_0004348 hematocrit null http://www.ebi.ac.uk/efo/EFO_0004348 node EFO_0010015 SCTG null http://www.ebi.ac.uk/efo/EFO_0010015 node HP_0002028 Chronic diarrhea null http://purl.obolibrary.org/obo/HP_0002028 node HP_0040185 Macrothrombocytopenia null http://purl.obolibrary.org/obo/HP_0040185 node MONDO_0054565 short-rib thoracic dysplasia 17 with or without polydactyly null http://purl.obolibrary.org/obo/MONDO_0054565 node EFO_1001110 pituitary-dependent Cushing's disease null http://www.ebi.ac.uk/efo/EFO_1001110 node Orphanet_1331 Familial prostate cancer Editor note: check OMIM http://www.orpha.net/ORDO/Orphanet_1331 node EFO_0008945 SPET-seq null http://www.ebi.ac.uk/efo/EFO_0008945 node EFO_0004613 obsolete_triglyceride measurement null http://www.ebi.ac.uk/efo/EFO_0004613 node EFO_0005540 bile duct carcinoma null http://www.ebi.ac.uk/efo/EFO_0005540 node EFO_0004436 AB SOLiD 5500xl null http://www.ebi.ac.uk/efo/EFO_0004436 node EFO_0003509 obsolete_granular eminence null http://www.ebi.ac.uk/efo/EFO_0003509 node Orphanet_401945 Moyamoya disease with early-onset achalasia null http://www.orpha.net/ORDO/Orphanet_401945 node EFO_0010103 response to peginterferon alfa-2a null http://www.ebi.ac.uk/efo/EFO_0010103 node EFO_0007282 genital herpes null http://www.ebi.ac.uk/efo/EFO_0007282 node Orphanet_183426 Genetic epidermal disorder null http://www.orpha.net/ORDO/Orphanet_183426 node CHEBI_28733 1-linoleoyl-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_28733 node EFO_0007986 reticulocyte count null http://www.ebi.ac.uk/efo/EFO_0007986 node EFO_0005065 silicon substrate null http://www.ebi.ac.uk/efo/EFO_0005065 node CL_0001069 group 2 innate lymphoid cell null http://purl.obolibrary.org/obo/CL_0001069 node EFO_0004701 methamphetamine dependence null http://www.ebi.ac.uk/efo/EFO_0004701 node Orphanet_98944 Coloboma of iris null http://www.orpha.net/ORDO/Orphanet_98944 node EFO_0006443 HT144 null http://www.ebi.ac.uk/efo/EFO_0006443 node MONDO_0000941 eyelid degenerative disease null http://purl.obolibrary.org/obo/MONDO_0000941 node EFO_0007239 dirofilariasis null http://www.ebi.ac.uk/efo/EFO_0007239 node Orphanet_314993 Cataract-congenital heart disease-neural tube defect syndrome null http://www.orpha.net/ORDO/Orphanet_314993 node UBERON_0007683 lateral mesenchyme derived from mesoderm null http://purl.obolibrary.org/obo/UBERON_0007683 node Orphanet_90154 Mandibuloacral dysplasia with type B lipodystrophy null http://www.orpha.net/ORDO/Orphanet_90154 node EFO_0008564 Illumina HiSeq 3000 null http://www.ebi.ac.uk/efo/EFO_0008564 node CHEBI_55430 1-O-hexadecyl-2-arachidonoyl-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_55430 node Orphanet_79305 Progressive familial intrahepatic cholestasis type 3 null http://www.orpha.net/ORDO/Orphanet_79305 node MONDO_0000368 extrapulmonary tuberculosis null http://purl.obolibrary.org/obo/MONDO_0000368 node EFO_0006489 SK-MEL-31 null http://www.ebi.ac.uk/efo/EFO_0006489 node EFO_0009883 urinary sodium to creatinine ratio null http://www.ebi.ac.uk/efo/EFO_0009883 node MONDO_0004671 penis carcinoma in situ null http://purl.obolibrary.org/obo/MONDO_0004671 node EFO_0001928 obsolete_hindlimb muscle null http://www.ebi.ac.uk/efo/EFO_0001928 node MONDO_0011369 hypercholesterolemia, autosomal dominant, 3 null http://purl.obolibrary.org/obo/MONDO_0011369 node EFO_0008652 AHT-ChIP-Seq null http://www.ebi.ac.uk/efo/EFO_0008652 node EFO_0006295 ST88-14 null http://www.ebi.ac.uk/efo/EFO_0006295 node MONDO_0008387 ring dermoid of cornea null http://purl.obolibrary.org/obo/MONDO_0008387 node Orphanet_269564 Genetic syndrome with a central nervous system malformation as major feature null http://www.orpha.net/ORDO/Orphanet_269564 node NCBITaxon_40370 Drosophila montana null http://purl.obolibrary.org/obo/NCBITaxon_40370 node EFO_0010319 pars opercularis volume measurement null http://www.ebi.ac.uk/efo/EFO_0010319 node EFO_0001182 HEK293 null http://www.ebi.ac.uk/efo/EFO_0001182 node EFO_0007700 exploratory eye movement measurement null http://www.ebi.ac.uk/efo/EFO_0007700 node Orphanet_893 WAGR syndrome null http://www.orpha.net/ORDO/Orphanet_893 node HP_0004796 Gastrointestinal obstruction null http://purl.obolibrary.org/obo/HP_0004796 node Orphanet_137898 Leukoencephalopathy with brain stem and spinal cord involvement - high lactate null http://www.orpha.net/ORDO/Orphanet_137898 node Orphanet_98434 Hereditary combined deficiency of vitamin K-dependent clotting factors null http://www.orpha.net/ORDO/Orphanet_98434 node Orphanet_98915 Synaptic congenital myasthenic syndromes null http://www.orpha.net/ORDO/Orphanet_98915 node MONDO_0013532 protein Z deficiency null http://purl.obolibrary.org/obo/MONDO_0013532 node Orphanet_263494 DPM3-CDG null http://www.orpha.net/ORDO/Orphanet_263494 node Orphanet_36382 Familial cervical artery dissections null http://www.orpha.net/ORDO/Orphanet_36382 node Orphanet_958 Acro-renal-mandibular syndrome null http://www.orpha.net/ORDO/Orphanet_958 node Orphanet_169110 Immunoglobulin heavy chain deficiency null http://www.orpha.net/ORDO/Orphanet_169110 node EFO_0010682 liver transplant null http://www.ebi.ac.uk/efo/EFO_0010682 node EFO_0008535 post-traumatic stress disorder symptom measurement null http://www.ebi.ac.uk/efo/EFO_0008535 node EFO_0008076 CD109 antigen measurement null http://www.ebi.ac.uk/efo/EFO_0008076 node EFO_0001270 mating type alpha null http://www.ebi.ac.uk/efo/EFO_0001270 node MONDO_0020573 inherited disease susceptibility null http://purl.obolibrary.org/obo/MONDO_0020573 node NCBITaxon_7425 Nasonia vitripennis null http://purl.obolibrary.org/obo/NCBITaxon_7425 node CHEBI_83036 7alpha-hydroxy-3-oxo-4-cholestenoic acid null http://purl.obolibrary.org/obo/CHEBI_83036 node EFO_0002066 JEG3 null http://www.ebi.ac.uk/efo/EFO_0002066 node EFO_1001926 pathological gambling null http://www.ebi.ac.uk/efo/EFO_1001926 node EFO_0004695 intraocular pressure measurement null http://www.ebi.ac.uk/efo/EFO_0004695 node Orphanet_89843 Dystrophic epidermolysis bullosa pruriginosa null http://www.orpha.net/ORDO/Orphanet_89843 node EFO_1000673 obsolete_bullous skin disease null http://www.ebi.ac.uk/efo/EFO_1000673 node GO_1901559 response to ribavirin null http://purl.obolibrary.org/obo/GO_1901559 node EFO_0008164 intercellular adhesion molecule 5 measurement null http://www.ebi.ac.uk/efo/EFO_0008164 node MONDO_0016685 low-grade astrocytoma null http://purl.obolibrary.org/obo/MONDO_0016685 node MONDO_0043878 hereditary optic atrophy null http://purl.obolibrary.org/obo/MONDO_0043878 node EFO_0010770 CCL3 measurement null http://www.ebi.ac.uk/efo/EFO_0010770 node EFO_1000486 Pleural Sarcomatoid Mesothelioma null http://www.ebi.ac.uk/efo/EFO_1000486 node EFO_0010583 alpha fetoprotein measurement null http://www.ebi.ac.uk/efo/EFO_0010583 node Orphanet_179 Birdshot chorioretinopathy null http://www.orpha.net/ORDO/Orphanet_179 node HP_0004804 Congenital hemolytic anemia null http://purl.obolibrary.org/obo/HP_0004804 node NCBITaxon_431947 Porphyromonas gingivalis ATCC 33277 null http://purl.obolibrary.org/obo/NCBITaxon_431947 node EFO_0002375 SW948 null http://www.ebi.ac.uk/efo/EFO_0002375 node PO_0025508 fruit size 70% to final size stage Succeeds a fruit size 50 to 70% stage (PO:0025507) and proceeds a fruit ripening stage. This term can only be used if the final size of the fruit is known. This stage is to be used for an individual fruit. For the development stage of a whole plant (PO:0000003), use whole plant fruit formation stage 70% to final size (PO:0007027). http://purl.obolibrary.org/obo/PO_0025508 node MONDO_0026045 prurigo nodularis null http://purl.obolibrary.org/obo/MONDO_0026045 node UBERON_0001184 renal artery null http://purl.obolibrary.org/obo/UBERON_0001184 node CL_0000148 melanocyte null http://purl.obolibrary.org/obo/CL_0000148 node UBERON_0012652 colorectum null http://purl.obolibrary.org/obo/UBERON_0012652 node EFO_1000574 Testicular Yolk Sac Tumor null http://www.ebi.ac.uk/efo/EFO_1000574 node Orphanet_69082 Odonto-tricho-ungual-digito-palmar syndrome null http://www.orpha.net/ORDO/Orphanet_69082 node EFO_0006954 response to triamcinolone acetonide null http://www.ebi.ac.uk/efo/EFO_0006954 node Orphanet_262950 Partial duplication of the long arm of chromosome 15 null http://www.orpha.net/ORDO/Orphanet_262950 node EFO_0005156 Wassilewskija ecotype null http://www.ebi.ac.uk/efo/EFO_0005156 node EFO_0006767 TYK-nu.CP-r null http://www.ebi.ac.uk/efo/EFO_0006767 node EFO_0003362 obsolete_central brain anlage null http://www.ebi.ac.uk/efo/EFO_0003362 node Orphanet_104 Leber hereditary optic neuropathy null http://www.orpha.net/ORDO/Orphanet_104 node EFO_0002258 NCI-H1618 null http://www.ebi.ac.uk/efo/EFO_0002258 node GO_0009306 protein secretion null http://purl.obolibrary.org/obo/GO_0009306 node Orphanet_502 Langer-Giedion syndrome null http://www.orpha.net/ORDO/Orphanet_502 node CHEBI_16038 phosphatidylethanolamine null http://purl.obolibrary.org/obo/CHEBI_16038 node MONDO_0021499 benign neoplasm of cerebellum null http://purl.obolibrary.org/obo/MONDO_0021499 node Orphanet_247546 Acute neonatal citrullinemia type I null http://www.orpha.net/ORDO/Orphanet_247546 node EFO_0005244 gastric bypass null http://www.ebi.ac.uk/efo/EFO_0005244 node EFO_0003450 obsolete_presumptive rhombomere 4 null http://www.ebi.ac.uk/efo/EFO_0003450 node Orphanet_85289 X-linked intellectual disability, Vitale type null http://www.orpha.net/ORDO/Orphanet_85289 node Orphanet_83471 Thymic aplasia null http://www.orpha.net/ORDO/Orphanet_83471 node Orphanet_289825 Late-onset primary lymphedema null http://www.orpha.net/ORDO/Orphanet_289825 node Orphanet_271847 Genetic endocrine tumor null http://www.orpha.net/ORDO/Orphanet_271847 node EFO_1001190 splenic infarction null http://www.ebi.ac.uk/efo/EFO_1001190 node EFO_0000378 obsolete_coronary artery disease null http://www.ebi.ac.uk/efo/EFO_0000378 node CHEBI_46938 zebularine null http://purl.obolibrary.org/obo/CHEBI_46938 node EFO_0010799 transforming growth factor-beta measurement null http://www.ebi.ac.uk/efo/EFO_0010799 node GO_0036211 protein modification process null http://purl.obolibrary.org/obo/GO_0036211 node EFO_1001059 neonatal myasthenia gravis null http://www.ebi.ac.uk/efo/EFO_1001059 node UBERON_0003071 eye primordium null http://purl.obolibrary.org/obo/UBERON_0003071 node EFO_0005489 LX837 null http://www.ebi.ac.uk/efo/EFO_0005489 node CHEBI_27570 histidine null http://purl.obolibrary.org/obo/CHEBI_27570 node Orphanet_2044 Floating-Harbor syndrome null http://www.orpha.net/ORDO/Orphanet_2044 node MONDO_0000341 paralytic poliomyelitis null http://purl.obolibrary.org/obo/MONDO_0000341 node EFO_0007892 donor genotype effect measurement null http://www.ebi.ac.uk/efo/EFO_0007892 node MONDO_0030063 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities null http://purl.obolibrary.org/obo/MONDO_0030063 node EFO_0010887 HG03558 null http://www.ebi.ac.uk/efo/EFO_0010887 node HP_0004798 Recurrent infection of the gastrointestinal tract null http://purl.obolibrary.org/obo/HP_0004798 node UBERON_0007286 presumptive floor plate null http://purl.obolibrary.org/obo/UBERON_0007286 node Orphanet_206656 Non-dystrophic myopathy null http://www.orpha.net/ORDO/Orphanet_206656 node Orphanet_2132 Hemoglobin C disease null http://www.orpha.net/ORDO/Orphanet_2132 node EFO_0008724 DSB-seq null http://www.ebi.ac.uk/efo/EFO_0008724 node HP_0012438 Abnormal gallbladder physiology null http://purl.obolibrary.org/obo/HP_0012438 node EFO_0000524 head and neck disorder This term had been labelled 'head disease' up until EFO 2.90 where it was then amended to 'head and neck disorder' to better reflect meaningful classification. The old definition is "The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed. E.g Acute Lymphocytic Leukemia". http://www.ebi.ac.uk/efo/EFO_0000524 node Orphanet_364063 Infantile epileptic-dyskinetic encephalopathy null http://www.orpha.net/ORDO/Orphanet_364063 node Orphanet_155889 Coloboma of inferior eyelid Editor note: TODO axioms http://www.orpha.net/ORDO/Orphanet_155889 node EFO_0009486 diabetic eye disease null http://www.ebi.ac.uk/efo/EFO_0009486 node NCBITaxon_62324 Anopheles funestus null http://purl.obolibrary.org/obo/NCBITaxon_62324 node Orphanet_3389 Tuberculosis null http://www.orpha.net/ORDO/Orphanet_3389 node ZFA_0000821 primary neuron hindbrain null http://purl.obolibrary.org/obo/ZFA_0000821 node CHEBI_30145 lithium atom null http://purl.obolibrary.org/obo/CHEBI_30145 node MONDO_0001909 renal tubular acidosis null http://purl.obolibrary.org/obo/MONDO_0001909 node CHEBI_50885 fludrocortisone null http://purl.obolibrary.org/obo/CHEBI_50885 node MONDO_0000650 peritoneal benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0000650 node GO_0007608 sensory perception of smell null http://purl.obolibrary.org/obo/GO_0007608 node EFO_1000862 cervix erosion null http://www.ebi.ac.uk/efo/EFO_1000862 node EFO_0003884 chronic kidney disease null http://www.ebi.ac.uk/efo/EFO_0003884 node EFO_0001986 lung structure null http://www.ebi.ac.uk/efo/EFO_0001986 node EFO_1000675 cholesteatoma null http://www.ebi.ac.uk/efo/EFO_1000675 node MONDO_0014853 autosomal dominant nonsyndromic deafness 70 null http://purl.obolibrary.org/obo/MONDO_0014853 node EFO_0009574 intoxication null http://www.ebi.ac.uk/efo/EFO_0009574 node Orphanet_262905 Partial trisomy of the long arm of chromosome 9 null http://www.orpha.net/ORDO/Orphanet_262905 node EFO_0007090 HUES64-derived CD184+ null http://www.ebi.ac.uk/efo/EFO_0007090 node Orphanet_207067 Qualitative or quantitative defects of gamma-sarcoglycan null http://www.orpha.net/ORDO/Orphanet_207067 node EFO_0003972 ESHyb null http://www.ebi.ac.uk/efo/EFO_0003972 node Orphanet_584 Mucopolysaccharidosis type 7 null http://www.orpha.net/ORDO/Orphanet_584 node EFO_1000282 Gonadal Teratoma null http://www.ebi.ac.uk/efo/EFO_1000282 node CHEBI_58386 (S)-2-hydroxyoctadecanoate null http://purl.obolibrary.org/obo/CHEBI_58386 node EFO_1000763 sebaceous gland disease null http://www.ebi.ac.uk/efo/EFO_1000763 node HP_0000725 Psychotic episodes null http://purl.obolibrary.org/obo/HP_0000725 node EFO_0001403 obsolete_corneal limbus null http://www.ebi.ac.uk/efo/EFO_0001403 node EFO_0006460 ovarian adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0006460 node EFO_0009662 common wart null http://www.ebi.ac.uk/efo/EFO_0009662 node Orphanet_276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency null http://www.orpha.net/ORDO/Orphanet_276575 node EFO_0008020 alpha-2-HS-glycoprotein measurement null http://www.ebi.ac.uk/efo/EFO_0008020 node EFO_0001039 seedhead null http://www.ebi.ac.uk/efo/EFO_0001039 node MONDO_0004263 pediatric infratentorial ependymoblastoma null http://purl.obolibrary.org/obo/MONDO_0004263 node EFO_0009885 frailty measurement null http://www.ebi.ac.uk/efo/EFO_0009885 node MONDO_0009213 Fanconi anemia complementation group C null http://purl.obolibrary.org/obo/MONDO_0009213 node EFO_1000370 Meningeal Melanocytoma null http://www.ebi.ac.uk/efo/EFO_1000370 node CHEBI_15347 acetone null http://purl.obolibrary.org/obo/CHEBI_15347 node EFO_0009722 number of stillbirths null http://www.ebi.ac.uk/efo/EFO_0009722 node EFO_0008241 NAD-dependent protein deacetylase sirtuin-2 measurement null http://www.ebi.ac.uk/efo/EFO_0008241 node EFO_0001184 HEK293T null http://www.ebi.ac.uk/efo/EFO_0001184 node EFO_0002231 MEC1 null http://www.ebi.ac.uk/efo/EFO_0002231 node EFO_0001304 larval day 4 null http://www.ebi.ac.uk/efo/EFO_0001304 node MONDO_0002907 intracranial thrombosis null http://purl.obolibrary.org/obo/MONDO_0002907 node HP_0001933 Subcutaneous hemorrhage Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. http://purl.obolibrary.org/obo/HP_0001933 node EFO_0001127 GM11995 null http://www.ebi.ac.uk/efo/EFO_0001127 node OBI_0600015 group assignment null http://purl.obolibrary.org/obo/OBI_0600015 node Orphanet_307766 Curly hair-acral keratoderma-caries syndrome null http://www.orpha.net/ORDO/Orphanet_307766 node Orphanet_737 Porokeratosis plantaris palmaris et disseminata null http://www.orpha.net/ORDO/Orphanet_737 node MONDO_0004649 anaerobic pneumonia null http://purl.obolibrary.org/obo/MONDO_0004649 node EFO_1000933 extrahepatic cholestasis null http://www.ebi.ac.uk/efo/EFO_1000933 node CL_0002509 CD103-positive, langerin-positive lymph node dendritic cell null http://purl.obolibrary.org/obo/CL_0002509 node EFO_0009810 full length single nucleus RNA sequencing null http://www.ebi.ac.uk/efo/EFO_0009810 node EFO_0002933 HapMap cell line null http://www.ebi.ac.uk/efo/EFO_0002933 node Orphanet_261831 Partial deletion of chromosome 17 null http://www.orpha.net/ORDO/Orphanet_261831 node CHEBI_50114 estrogen null http://purl.obolibrary.org/obo/CHEBI_50114 node Orphanet_2707 Oculocerebrofacial syndrome, Kaufman type null http://www.orpha.net/ORDO/Orphanet_2707 node Orphanet_100978 Cloverleaf skull - asphyxiating thoracic dysplasia null http://www.orpha.net/ORDO/Orphanet_100978 node EFO_0001272 adult null http://www.ebi.ac.uk/efo/EFO_0001272 node UBERON_2000939 middle lateral line neuromast null http://purl.obolibrary.org/obo/UBERON_2000939 node MONDO_0004737 homocystinuria (disease) null http://purl.obolibrary.org/obo/MONDO_0004737 node MONDO_0044704 oropharynx squamous cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0044704 node EFO_0002540 nestin positive islet-derived progenitor cell null http://www.ebi.ac.uk/efo/EFO_0002540 node Orphanet_319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency null http://www.orpha.net/ORDO/Orphanet_319535 node EFO_0000848 obsolete_rectum null http://www.ebi.ac.uk/efo/EFO_0000848 node Orphanet_141276 Commissural facial cleft null http://www.orpha.net/ORDO/Orphanet_141276 node EFO_0010709 placental smooth muscle cell Made as a placeholder for AE anatomagrams, term should be requested in CL. http://www.ebi.ac.uk/efo/EFO_0010709 node EFO_0004100 interleukin null http://www.ebi.ac.uk/efo/EFO_0004100 node NCBITaxon_12183 Potato virus X null http://purl.obolibrary.org/obo/NCBITaxon_12183 node Orphanet_307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome null http://www.orpha.net/ORDO/Orphanet_307936 node Orphanet_2608 N syndrome null http://www.orpha.net/ORDO/Orphanet_2608 node Orphanet_35122 Congenital sucrase-isomaltase deficiency null http://www.orpha.net/ORDO/Orphanet_35122 node NCBITaxon_9244 Calypte anna null http://purl.obolibrary.org/obo/NCBITaxon_9244 node MONDO_0018795 syndromic constitutional thrombocytopenia null http://purl.obolibrary.org/obo/MONDO_0018795 node EFO_0005753 ocular vascular disease null http://www.ebi.ac.uk/efo/EFO_0005753 node EFO_0004826 anti-neutrophil antibody associated vasculitis null http://www.ebi.ac.uk/efo/EFO_0004826 node EFO_0000455 obsolete_embryonic esophagus null http://www.ebi.ac.uk/efo/EFO_0000455 node EFO_0000936 obsolete_spiracle null http://www.ebi.ac.uk/efo/EFO_0000936 node PO_0020039 leaf lamina A leaf lamina is usually dorsiventrally flattened, but may be flattened in a median plant (perpendicular to the axis) in the case of phyllodes (PO:0025335) or other ensiform leaves (PO:0025333). This term should not be used for leaves that are not laminar (flat), like round leaves in Allium or needle-like leaves in Pinus or some Proteaceae. If you are annotating to this term, please add an additional annotation to vascular leaf (PO:0009025) or non-vascular leaf (PO:0025075), depending on the species. All annotations for angiosperms, gymnosperms, and pteridophytes should go to vascular leaf and all annotations for bryophytes should go to non-vascular leaf. http://purl.obolibrary.org/obo/PO_0020039 node CHEBI_45996 ribothymidine null http://purl.obolibrary.org/obo/CHEBI_45996 node MONDO_0020077 myelodysplastic/myeloproliferative disease null http://purl.obolibrary.org/obo/MONDO_0020077 node EFO_0006546 C2BBe1 null http://www.ebi.ac.uk/efo/EFO_0006546 node Orphanet_231108 Familial rhabdoid tumor null http://www.orpha.net/ORDO/Orphanet_231108 node NCBITaxon_12271 Arabis mosaic virus null http://purl.obolibrary.org/obo/NCBITaxon_12271 node GO_0120062 positive regulation of gastric emptying null http://purl.obolibrary.org/obo/GO_0120062 node EFO_0009030 Cerebellar-facial-dental syndrome null http://www.ebi.ac.uk/efo/EFO_0009030 node EFO_0000069 CS57710 null http://www.ebi.ac.uk/efo/EFO_0000069 node Orphanet_34592 Immunodeficiency by defective expression of HLA class 1 null http://www.orpha.net/ORDO/Orphanet_34592 node EFO_0005912 hTERT-HM null http://www.ebi.ac.uk/efo/EFO_0005912 node Orphanet_284247 Familial retinal arterial macroaneurysm null http://www.orpha.net/ORDO/Orphanet_284247 node Orphanet_1396 Cerebro-reno-digital syndrome null http://www.orpha.net/ORDO/Orphanet_1396 node EFO_1001411 Radiation Pneumonitis null http://www.ebi.ac.uk/efo/EFO_1001411 node CHEBI_89087 cotinine N-oxide null http://purl.obolibrary.org/obo/CHEBI_89087 node EFO_0010461 argininosuccinate measurement null http://www.ebi.ac.uk/efo/EFO_0010461 node MONDO_0037937 pyrimidine metabolism disease null http://purl.obolibrary.org/obo/MONDO_0037937 node EFO_0000543 obsolete_individual genetic characteristic null http://www.ebi.ac.uk/efo/EFO_0000543 node EFO_0004914 facial neural processing null http://www.ebi.ac.uk/efo/EFO_0004914 node Orphanet_363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome null http://www.orpha.net/ORDO/Orphanet_363429 node EFO_1001224 ulnar neuropathy null http://www.ebi.ac.uk/efo/EFO_1001224 node CL_0000862 suppressor macrophage Markers: May express: IL10, TGFbeta. http://purl.obolibrary.org/obo/CL_0000862 node EFO_0005654 velocity of sound measurement null http://www.ebi.ac.uk/efo/EFO_0005654 node EFO_0004727 metabolite null http://www.ebi.ac.uk/efo/EFO_0004727 node CHEBI_50295 1,9-dideoxyforskolin null http://purl.obolibrary.org/obo/CHEBI_50295 node Orphanet_295209 Humero-radial synostosis, unilateral null http://www.orpha.net/ORDO/Orphanet_295209 node EFO_0010097 sugar sweetened beverage consumption measurement null http://www.ebi.ac.uk/efo/EFO_0010097 node EFO_0007396 Nidovirales infectious disease null http://www.ebi.ac.uk/efo/EFO_0007396 node PATO_0000383 female null http://purl.obolibrary.org/obo/PATO_0000383 node CL_0000115 endothelial cell From FMA: 9.07.2001: Endothelial cell has always been classified as a kind of epithelial cell, specifically a squamous cell but that is not true. First, endothelial cell can either be squamous or cuboidal (e.g. high-endothelial cell) and secondly, it has different embryological derivation (mesodermal) than a true epithelial cell (ectodermal and endodermal). The basis for present classification is the fact that it comprises the outermost layer or lining of anatomical structures (location-based) but a better structural basis for the differentia is the cytoskeleton of the cell. Endothelial cell has vimentin filaments while an epithelial cell has keratin filaments. [Onard]. http://purl.obolibrary.org/obo/CL_0000115 node Orphanet_79499 Autosomal dominant deafness-onychodystrophy syndrome null http://www.orpha.net/ORDO/Orphanet_79499 node MONDO_0060641 neurodevelopmental disorder with or without seizures and gait abnormalities null http://purl.obolibrary.org/obo/MONDO_0060641 node PO_0007095 LP.08 eight leaves visible stage null http://purl.obolibrary.org/obo/PO_0007095 node Orphanet_1484 Contractures - ectodermal dysplasia - cleft lip/palate null http://www.orpha.net/ORDO/Orphanet_1484 node EFO_0006716 OPM-2 null http://www.ebi.ac.uk/efo/EFO_0006716 node EFO_1001312 Endometritis null http://www.ebi.ac.uk/efo/EFO_1001312 node MONDO_0045072 ectopic hormone secretion syndrome associated with neoplasia null http://purl.obolibrary.org/obo/MONDO_0045072 node EFO_0001794 submitted null http://www.ebi.ac.uk/efo/EFO_0001794 node CL_0000950 IgE plasmablast null http://purl.obolibrary.org/obo/CL_0000950 node CL_0002192 metamyelocyte null http://purl.obolibrary.org/obo/CL_0002192 node Orphanet_325055 46,XX disorder of gonadal development null http://www.orpha.net/ORDO/Orphanet_325055 node EFO_0010204 cell barcode offset null http://www.ebi.ac.uk/efo/EFO_0010204 node EFO_0010185 single cell information null http://www.ebi.ac.uk/efo/EFO_0010185 node EFO_0007484 sick building syndrome null http://www.ebi.ac.uk/efo/EFO_0007484 node MONDO_0009576 megalocornea (disease) null http://purl.obolibrary.org/obo/MONDO_0009576 node CL_0000083 epithelial cell of pancreas null http://purl.obolibrary.org/obo/CL_0000083 node Orphanet_329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency null http://www.orpha.net/ORDO/Orphanet_329249 node Orphanet_2789 Lateral meningocele syndrome null http://www.orpha.net/ORDO/Orphanet_2789 node MONDO_0018521 squamous cell carcinoma of pancreas null http://purl.obolibrary.org/obo/MONDO_0018521 node EFO_0007894 beta-carotene measurement null http://www.ebi.ac.uk/efo/EFO_0007894 node CHEBI_46081 fluconazole null http://purl.obolibrary.org/obo/CHEBI_46081 node CLO_0014413 GM17243 null http://purl.obolibrary.org/obo/CLO_0014413 node Orphanet_98647 Cardiac disease with cataract null http://www.orpha.net/ORDO/Orphanet_98647 node EFO_0007731 WSB/EiJ null http://www.ebi.ac.uk/efo/EFO_0007731 node EFO_0006804 alloimmunization null http://www.ebi.ac.uk/efo/EFO_0006804 node EFO_0007544 Waterhouse-Friderichsen syndrome null http://www.ebi.ac.uk/efo/EFO_0007544 node EFO_0006617 KMS-28BM null http://www.ebi.ac.uk/efo/EFO_0006617 node Orphanet_93296 Achondrogenesis type 2 null http://www.orpha.net/ORDO/Orphanet_93296 node HP_0031988 obsolete Muscle spasm null http://purl.obolibrary.org/obo/HP_0031988 node Orphanet_989 Hypoglossia - hypodactyly null http://www.orpha.net/ORDO/Orphanet_989 node GO_0016246 RNA interference null http://purl.obolibrary.org/obo/GO_0016246 node CHEBI_5123 fluphenazine null http://purl.obolibrary.org/obo/CHEBI_5123 node EFO_0009488 spinal cord disease null http://www.ebi.ac.uk/efo/EFO_0009488 node GO_0043005 neuron projection null http://purl.obolibrary.org/obo/GO_0043005 node EFO_0009969 2-stage Repli-seq null http://www.ebi.ac.uk/efo/EFO_0009969 node GO_0060278 regulation of ovulation null http://purl.obolibrary.org/obo/GO_0060278 node EFO_1000478 Pituitary Gland Adenoma null http://www.ebi.ac.uk/efo/EFO_1000478 node EFO_0007632 postprandial hyperlipidemia null http://www.ebi.ac.uk/efo/EFO_0007632 node MONDO_0032923 spinocerebellar ataxia, autosomal recessive 28 null http://purl.obolibrary.org/obo/MONDO_0032923 node CHEBI_15611 sarcosine null http://purl.obolibrary.org/obo/CHEBI_15611 node UBERON_0001839 bony labyrinth Ideally we would place a spatially disjoint from relationship to membranous labyrinth, but there are many parts in common. this should be resolved. http://purl.obolibrary.org/obo/UBERON_0001839 node Orphanet_325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency null http://www.orpha.net/ORDO/Orphanet_325529 node CHEBI_59517 DNA synthesis inhibitor null http://purl.obolibrary.org/obo/CHEBI_59517 node CL_0002479 F4/80-positive adipose macrophage null http://purl.obolibrary.org/obo/CL_0002479 node CHEBI_76233 2-linoleoyl-sn-glycero-3-phosphoethanolamine null http://purl.obolibrary.org/obo/CHEBI_76233 node CHEBI_16870 choline alfoscerate null http://purl.obolibrary.org/obo/CHEBI_16870 node HP_0003749 Pelvic girdle muscle weakness null http://purl.obolibrary.org/obo/HP_0003749 node EFO_0001090 BJABK3 null http://www.ebi.ac.uk/efo/EFO_0001090 node MONDO_0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature null http://purl.obolibrary.org/obo/MONDO_0032687 node EFO_0009576 multiple gestation null http://www.ebi.ac.uk/efo/EFO_0009576 node MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome null http://purl.obolibrary.org/obo/MONDO_0014714 node MONDO_0006507 hereditary hemochromatosis Editor notes: HH1 is not rare, so the current placement of generic HH under rare inborn errors of metabolism is technically incorrect. However, reclassifying on the basis of prelvalence does not make biological sense since the mechanism is the same. See notes on MONDO:0019052 http://purl.obolibrary.org/obo/MONDO_0006507 node MONDO_0000014 colorblindness, partial null http://purl.obolibrary.org/obo/MONDO_0000014 node UBERON_0001927 medial geniculate body null http://purl.obolibrary.org/obo/UBERON_0001927 node EFO_1001891 gastrointestinal mucositis null http://www.ebi.ac.uk/efo/EFO_1001891 node MONDO_0003062 intestinal benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0003062 node EFO_1000624 Vulvar Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000624 node EFO_0009664 disease of orbital region null http://www.ebi.ac.uk/efo/EFO_0009664 node CHEBI_64057 3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride null http://purl.obolibrary.org/obo/CHEBI_64057 node MONDO_0030134 oculopharyngodistal myopathy 2 null http://purl.obolibrary.org/obo/MONDO_0030134 node NCBITaxon_42858 Staphylococcus lentus null http://purl.obolibrary.org/obo/NCBITaxon_42858 node Orphanet_307 Juvenile myoclonic epilepsy null http://www.orpha.net/ORDO/Orphanet_307 node Orphanet_141132 Oculo-auriculo-vertebral spectrum null http://www.orpha.net/ORDO/Orphanet_141132 node UBERON_0003881 CA1 field of hippocampus null http://purl.obolibrary.org/obo/UBERON_0003881 node CLO_0013888 GM17216 null http://purl.obolibrary.org/obo/CLO_0013888 node HP_0002283 Global brain atrophy Global brain atrophy can be visualized and quantified by magnetic resonance imaging. http://purl.obolibrary.org/obo/HP_0002283 node EFO_0009265 nausea and vomiting of pregnancy severity measurement null http://www.ebi.ac.uk/efo/EFO_0009265 node EFO_1000231 Endometrial Clear Cell Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000231 node MONDO_0003448 benign spiradenoma Spiradenomas are usually benign. Malignant forms are rare. http://purl.obolibrary.org/obo/MONDO_0003448 node EFO_1000712 hypohidrosis Editor note: consider obsoleting http://www.ebi.ac.uk/efo/EFO_1000712 node EFO_1000160 Cervical Adenoid Basal Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000160 node EFO_0003734 obsolete_lung (Rattus norvegicus) null http://www.ebi.ac.uk/efo/EFO_0003734 node GO_0006950 response to stress Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0006950 node UBERON_0001135 smooth muscle tissue null http://purl.obolibrary.org/obo/UBERON_0001135 node EFO_0001940 obsolete_umbilical vein null http://www.ebi.ac.uk/efo/EFO_0001940 node CHEBI_35477 antimanic drug null http://purl.obolibrary.org/obo/CHEBI_35477 node CHEBI_16467 L-arginine null http://purl.obolibrary.org/obo/CHEBI_16467 node EFO_1000525 Simple Endometrial Hyperplasia null http://www.ebi.ac.uk/efo/EFO_1000525 node EFO_0003663 obsolete_branchiostegal ray 2 null http://www.ebi.ac.uk/efo/EFO_0003663 node EFO_0002559 obsolete_ciliary ganglion null http://www.ebi.ac.uk/efo/EFO_0002559 node EFO_0003476 obsolete_intermediate cell mass of mesoderm null http://www.ebi.ac.uk/efo/EFO_0003476 node Orphanet_3226 Deafness - lymphedema - leukemia null http://www.orpha.net/ORDO/Orphanet_3226 node Orphanet_222628 Hereditary poikiloderma null http://www.orpha.net/ORDO/Orphanet_222628 node Orphanet_96178 Ring chromosome 16 null http://www.orpha.net/ORDO/Orphanet_96178 node Orphanet_3010 Qazi-Markouizos syndrome null http://www.orpha.net/ORDO/Orphanet_3010 node EFO_1000061 obsolete_carbohydrate metabolic disorder null http://www.ebi.ac.uk/efo/EFO_1000061 node NCBITaxon_1509 Clostridium sporogenes null http://purl.obolibrary.org/obo/NCBITaxon_1509 node EFO_0000627 number of injections null http://www.ebi.ac.uk/efo/EFO_0000627 node MONDO_0016122 periodic paralysis (disease) Editor note: classified as genetic in ORDO but we treat as neutral here http://purl.obolibrary.org/obo/MONDO_0016122 node UBERON_0005750 glomerular parietal epithelium null http://purl.obolibrary.org/obo/UBERON_0005750 node MONDO_0000836 disease of bone structure null http://purl.obolibrary.org/obo/MONDO_0000836 node Orphanet_93457 Non-syndromic limb reduction defect null http://www.orpha.net/ORDO/Orphanet_93457 node MONDO_0004739 urea cycle disorder null http://purl.obolibrary.org/obo/MONDO_0004739 node EFO_0003564 obsolete_somite 14 null http://www.ebi.ac.uk/efo/EFO_0003564 node EFO_0008309 tumor necrosis factor receptor superfamily member 19L measurement null http://www.ebi.ac.uk/efo/EFO_0008309 node Orphanet_3314 Thiemann disease, familial form null http://www.orpha.net/ORDO/Orphanet_3314 node EFO_0004350 reasoning null http://www.ebi.ac.uk/efo/EFO_0004350 node MONDO_0003624 acinic cell breast carcinoma null http://purl.obolibrary.org/obo/MONDO_0003624 node MONDO_0054559 congenital disorder of glycosylation, type IIq null http://purl.obolibrary.org/obo/MONDO_0054559 node CHEBI_27656 camptothecin null http://purl.obolibrary.org/obo/CHEBI_27656 node GO_0010543 regulation of platelet activation null http://purl.obolibrary.org/obo/GO_0010543 node MONDO_0016343 unclassified cardiomyopathy null http://purl.obolibrary.org/obo/MONDO_0016343 node EFO_0010860 HG03025 null http://www.ebi.ac.uk/efo/EFO_0010860 node PATO_0000460 abnormal null http://purl.obolibrary.org/obo/PATO_0000460 node FBbt_00007049 head visceral muscle primordium null http://purl.obolibrary.org/obo/FBbt_00007049 node Orphanet_399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism null http://www.orpha.net/ORDO/Orphanet_399846 node MONDO_0018972 rare epithelial tumor of stomach null http://purl.obolibrary.org/obo/MONDO_0018972 node NCBITaxon_60134 Penicillium viridicatum null http://purl.obolibrary.org/obo/NCBITaxon_60134 node EFO_0005345 GM13976 null http://www.ebi.ac.uk/efo/EFO_0005345 node UBERON_0001532 internal carotid artery null http://purl.obolibrary.org/obo/UBERON_0001532 node Orphanet_183435 Inherited ichthyosis null http://www.orpha.net/ORDO/Orphanet_183435 node MONDO_0021127 has a syndromic presentation null http://purl.obolibrary.org/obo/MONDO_0021127 node CHEBI_27744 glyphosate null http://purl.obolibrary.org/obo/CHEBI_27744 node UBERON_0009122 adenohypophyseal placode null http://purl.obolibrary.org/obo/UBERON_0009122 node MONDO_0016226 specific language disorder null http://purl.obolibrary.org/obo/MONDO_0016226 node HP_0100608 Metrorrhagia null http://purl.obolibrary.org/obo/HP_0100608 node CHEBI_16708 adenine null http://purl.obolibrary.org/obo/CHEBI_16708 node UBERON_0003068 axial mesoderm null http://purl.obolibrary.org/obo/UBERON_0003068 node CHEBI_30832 adipic acid null http://purl.obolibrary.org/obo/CHEBI_30832 node NCBITaxon_555 Pectobacterium carotovorum subsp. carotovorum null http://purl.obolibrary.org/obo/NCBITaxon_555 node HP_0009762 Facial wrinkling null http://purl.obolibrary.org/obo/HP_0009762 node HANCESTRO_0021 Chinese null http://purl.obolibrary.org/obo/HANCESTRO_0021 node CL_0000160 goblet cell null http://purl.obolibrary.org/obo/CL_0000160 node EFO_1001003 kidney cortex necrosis null http://www.ebi.ac.uk/efo/EFO_1001003 node EFO_0005433 array control biosequence null http://www.ebi.ac.uk/efo/EFO_0005433 node EFO_1000348 Malignant Adrenal Gland Pheochromocytoma null http://www.ebi.ac.uk/efo/EFO_1000348 node HP_0006517 Intraalveolar phospholipid accumulation The periodic acid Schiff (PAS) staining is a staining method that detects polysaccharidese and mucosubstances, for example: glycogen, glyolipids, glyoproteins and mucins. It is one of the commonly used procedures in the histophathology laboratory and is easy to perfom. It may help in discriminating different forms of interstitial lung disease (ILD), especially pulmonary alveolar proteinosis (PAP). http://purl.obolibrary.org/obo/HP_0006517 node CHEBI_30920 3-hydroxy-3-methylglutarate(1-) null http://purl.obolibrary.org/obo/CHEBI_30920 node Orphanet_2498 Syndactyly type 8 null http://www.orpha.net/ORDO/Orphanet_2498 node NCBITaxon_330879 Aspergillus fumigatus Af293 null http://purl.obolibrary.org/obo/NCBITaxon_330879 node Orphanet_1306 Buschke-Ollendorff syndrome null http://www.orpha.net/ORDO/Orphanet_1306 node MONDO_0024358 complex sleep apnea null http://purl.obolibrary.org/obo/MONDO_0024358 node EFO_0007398 ocular onchocerciasis null http://www.ebi.ac.uk/efo/EFO_0007398 node Orphanet_228000 Idiopathic CD4 lymphocytopenia null http://www.orpha.net/ORDO/Orphanet_228000 node EFO_0006491 SR-786 null http://www.ebi.ac.uk/efo/EFO_0006491 node Orphanet_309568 Defect in conserved oligomeric Golgi complex null http://www.orpha.net/ORDO/Orphanet_309568 node EFO_0010007 scTrio-seq null http://www.ebi.ac.uk/efo/EFO_0010007 node UO_0000011 ampere null http://purl.obolibrary.org/obo/UO_0000011 node FBbt_00005663 embryonic central brain glial cell null http://purl.obolibrary.org/obo/FBbt_00005663 node Orphanet_324764 Trichorhinophalangeal syndrome null http://www.orpha.net/ORDO/Orphanet_324764 node EFO_0005018 long non polyA RNA null http://www.ebi.ac.uk/efo/EFO_0005018 node EFO_0005603 age at breast cancer diagnosis The age at which a breast cancer diagnosis was made in a human patient http://www.ebi.ac.uk/efo/EFO_0005603 node EFO_1000859 cerebral arterial disease null http://www.ebi.ac.uk/efo/EFO_1000859 node EFO_0007486 sinusitis null http://www.ebi.ac.uk/efo/EFO_0007486 node Orphanet_97927 Peripheral resistance to thyroid hormones null http://www.orpha.net/ORDO/Orphanet_97927 node NCBITaxon_72600 Calyptogena kilmeri gill symbiont null http://purl.obolibrary.org/obo/NCBITaxon_72600 node Orphanet_2134 Atypical hemolytic-uremic syndrome null http://www.orpha.net/ORDO/Orphanet_2134 node Orphanet_207018 Rare hereditary metabolic disease with peripheral neuropathy null http://www.orpha.net/ORDO/Orphanet_207018 node EFO_0008272 proto-oncogene tyrosine-protein kinase receptor Ret measurement null http://www.ebi.ac.uk/efo/EFO_0008272 node EFO_0004599 acute graft vs. host disease Editor note: consider merging with parent http://www.ebi.ac.uk/efo/EFO_0004599 node NCBITaxon_747 Pasteurella multocida null http://purl.obolibrary.org/obo/NCBITaxon_747 node MONDO_0100212 IFAP syndrome null http://purl.obolibrary.org/obo/MONDO_0100212 node EFO_0007087 HUES62 null http://www.ebi.ac.uk/efo/EFO_0007087 node EFO_0008976 TRIBE null http://www.ebi.ac.uk/efo/EFO_0008976 node EFO_0003969 treatment protocol null http://www.ebi.ac.uk/efo/EFO_0003969 node EFO_1002001 core binding factor acute myeloid leukemia null http://www.ebi.ac.uk/efo/EFO_1002001 node Orphanet_325004 CANDLE syndrome null http://www.orpha.net/ORDO/Orphanet_325004 node Orphanet_2222 Hypertrichosis lanuginosa congenita null http://www.orpha.net/ORDO/Orphanet_2222 node EFO_0008360 environmental exposure measurement null http://www.ebi.ac.uk/efo/EFO_0008360 node EFO_0001485 obsolete_antibiotic null http://www.ebi.ac.uk/efo/EFO_0001485 node HP_0001649 Tachycardia null http://purl.obolibrary.org/obo/HP_0001649 node EFO_0008173 interleukin 16 measurement null http://www.ebi.ac.uk/efo/EFO_0008173 node EFO_0001298 hatching stage null http://www.ebi.ac.uk/efo/EFO_0001298 node NCBITaxon_1596 Lactobacillus gasseri null http://purl.obolibrary.org/obo/NCBITaxon_1596 node MONDO_0002462 glomerulonephritis (disease) null http://purl.obolibrary.org/obo/MONDO_0002462 node MONDO_0023113 familial colorectal cancer null http://purl.obolibrary.org/obo/MONDO_0023113 node EFO_0002571 medical procedure null http://www.ebi.ac.uk/efo/EFO_0002571 node Orphanet_99817 Non-polyposis Turcot syndrome null http://www.orpha.net/ORDO/Orphanet_99817 node EFO_0008877 Quartz-seq null http://www.ebi.ac.uk/efo/EFO_0008877 node EFO_0009216 Hemoglobin C to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009216 node EFO_0000879 obsolete_stylopod null http://www.ebi.ac.uk/efo/EFO_0000879 node EFO_0009029 Central precocious puberty null http://www.ebi.ac.uk/efo/EFO_0009029 node EFO_0001386 obsolete_uvula null http://www.ebi.ac.uk/efo/EFO_0001386 node EFO_0009437 offspring mortality measurement null http://www.ebi.ac.uk/efo/EFO_0009437 node Orphanet_69076 Renal glucosuria null http://www.orpha.net/ORDO/Orphanet_69076 node GO_0009156 ribonucleoside monophosphate biosynthetic process null http://purl.obolibrary.org/obo/GO_0009156 node EFO_0009918 smFISH null http://www.ebi.ac.uk/efo/EFO_0009918 node EFO_0002172 EB1 null http://www.ebi.ac.uk/efo/EFO_0002172 node NCBITaxon_42156 Litomosoides sigmodontis null http://purl.obolibrary.org/obo/NCBITaxon_42156 node HP_0040019 Finger clinodactyly null http://purl.obolibrary.org/obo/HP_0040019 node MONDO_0002363 papilloma null http://purl.obolibrary.org/obo/MONDO_0002363 node NCBITaxon_9088 Chrysolophus amherstiae null http://purl.obolibrary.org/obo/NCBITaxon_9088 node EFO_0000967 obsolete_neck null http://www.ebi.ac.uk/efo/EFO_0000967 node EFO_1001167 scimitar syndrome null http://www.ebi.ac.uk/efo/EFO_1001167 node Orphanet_1388 Catel-Manzke syndrome null http://www.orpha.net/ORDO/Orphanet_1388 node Orphanet_99718 Leber plus disease null http://www.orpha.net/ORDO/Orphanet_99718 node EFO_0005597 methylmalonic aciduria and homocystinuria type cblG null http://www.ebi.ac.uk/efo/EFO_0005597 node EFO_0009117 typhus null http://www.ebi.ac.uk/efo/EFO_0009117 node EFO_0003167 obsolete_Pima Indian null http://www.ebi.ac.uk/efo/EFO_0003167 node CHEBI_16632 vanillate null http://purl.obolibrary.org/obo/CHEBI_16632 node EFO_0009525 foreign body null http://www.ebi.ac.uk/efo/EFO_0009525 node Orphanet_440 Familial hypospadias null http://www.orpha.net/ORDO/Orphanet_440 node Orphanet_231537 Hermansky-Pudlak syndrome type 8 null http://www.orpha.net/ORDO/Orphanet_231537 node EFO_1001869 dysentery null http://www.ebi.ac.uk/efo/EFO_1001869 node EFO_0002260 NCI-H1650 null http://www.ebi.ac.uk/efo/EFO_0002260 node EFO_0010089 bitter beverage consumption measurement null http://www.ebi.ac.uk/efo/EFO_0010089 node HP_0002460 Distal muscle weakness Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric. http://purl.obolibrary.org/obo/HP_0002460 node EFO_0009338 Epstein-Barr virus early antigen seropositivity null http://www.ebi.ac.uk/efo/EFO_0009338 node FBbt_00017010 dorsal trunk primordium null http://purl.obolibrary.org/obo/FBbt_00017010 node Orphanet_314811 Short stature due to GHSR deficiency null http://www.orpha.net/ORDO/Orphanet_314811 node EFO_0000574 lymphoma This is potentially too broad as well as overlaps with leukemia and should be obsoleted. http://www.ebi.ac.uk/efo/EFO_0000574 node Orphanet_171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency null http://www.orpha.net/ORDO/Orphanet_171706 node EFO_0010487 glutamate measurement null http://www.ebi.ac.uk/efo/EFO_0010487 node EFO_1001255 spontaneous abortion null http://www.ebi.ac.uk/efo/EFO_1001255 node EFO_0000387 obsolete_cultivar null http://www.ebi.ac.uk/efo/EFO_0000387 node EFO_0005685 RNA-seq of non coding RNA from single cells null http://www.ebi.ac.uk/efo/EFO_0005685 node EFO_1001068 obstructive jaundice null http://www.ebi.ac.uk/efo/EFO_1001068 node EFO_0008995 10X sequencing null http://www.ebi.ac.uk/efo/EFO_0008995 node HP_0002438 Cerebellar malformation null http://purl.obolibrary.org/obo/HP_0002438 node EFO_1001476 streptococcal infection null http://www.ebi.ac.uk/efo/EFO_1001476 node CHEBI_37956 histamine antagonist null http://purl.obolibrary.org/obo/CHEBI_37956 node EFO_1001957 hereditary thyroid gland medullary carcinoma null http://www.ebi.ac.uk/efo/EFO_1001957 node CLO_0014356 GM17226 null http://purl.obolibrary.org/obo/CLO_0014356 node UBERON_0000022 feather null http://purl.obolibrary.org/obo/UBERON_0000022 node UBERON_6001791 dorsal histoblast nest abdominal null http://purl.obolibrary.org/obo/UBERON_6001791 node EFO_0010575 vascular endothelial growth factor D measurement null http://www.ebi.ac.uk/efo/EFO_0010575 node ZFA_0001244 epibranchial 5 null http://purl.obolibrary.org/obo/ZFA_0001244 node EFO_0010412 triacylglycerol 50:5 measurement null http://www.ebi.ac.uk/efo/EFO_0010412 node EFO_0010398 sphingomyelin 24:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010398 node MONDO_0002481 ovarian neuroendocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0002481 node MONDO_0021639 grade II glioma null http://purl.obolibrary.org/obo/MONDO_0021639 node Orphanet_1757 Fibular dimelia - diplopodia null http://www.orpha.net/ORDO/Orphanet_1757 node MONDO_0004710 uterus carcinoma in situ null http://purl.obolibrary.org/obo/MONDO_0004710 node GO_0014831 gastro-intestinal system smooth muscle contraction null http://purl.obolibrary.org/obo/GO_0014831 node Orphanet_98994 Total congenital cataract null http://www.orpha.net/ORDO/Orphanet_98994 node Orphanet_324999 JMP syndrome null http://www.orpha.net/ORDO/Orphanet_324999 node Orphanet_2762 Progressive osseous heteroplasia null http://www.orpha.net/ORDO/Orphanet_2762 node EFO_1000403 Ocular Melanoma null http://www.ebi.ac.uk/efo/EFO_1000403 node EO_0001047 limited iron regimen null http://purl.obolibrary.org/obo/EO_0001047 node EFO_0010663 neurooculocardiogenitourinary syndrome null http://www.ebi.ac.uk/efo/EFO_0010663 node EFO_0005838 S3 null http://www.ebi.ac.uk/efo/EFO_0005838 node EFO_0004352 mortality null http://www.ebi.ac.uk/efo/EFO_0004352 node EFO_0003425 obsolete_enveloping layer null http://www.ebi.ac.uk/efo/EFO_0003425 node GO_0005975 carbohydrate metabolic process null http://purl.obolibrary.org/obo/GO_0005975 node Orphanet_26 Methylmalonic acidemia with homocystinuria null http://www.orpha.net/ORDO/Orphanet_26 node EFO_0010500 hypoxanthine mesurement null http://www.ebi.ac.uk/efo/EFO_0010500 node CLO_0016565 GM17747 null http://purl.obolibrary.org/obo/CLO_0016565 node NCBITaxon_3055 Chlamydomonas reinhardtii null http://purl.obolibrary.org/obo/NCBITaxon_3055 node HP_0001105 Retinal atrophy null http://purl.obolibrary.org/obo/HP_0001105 node EFO_0010721 lung transplantation null http://www.ebi.ac.uk/efo/EFO_0010721 node Orphanet_71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly null http://www.orpha.net/ORDO/Orphanet_71202 node Orphanet_399808 Male infertility with teratozoospermia due to single gene mutation null http://www.orpha.net/ORDO/Orphanet_399808 node Orphanet_2850 Alopecia-intellectual disability syndrome null http://www.orpha.net/ORDO/Orphanet_2850 node MONDO_0019859 congenital thyroid malformation without hypothyroidism null http://purl.obolibrary.org/obo/MONDO_0019859 node EFO_0002895 MKN7 null http://www.ebi.ac.uk/efo/EFO_0002895 node EFO_0007845 lip morphology measurement null http://www.ebi.ac.uk/efo/EFO_0007845 node EFO_0006798 neuritic plaque measurement null http://www.ebi.ac.uk/efo/EFO_0006798 node EFO_0006918 female fertility null http://www.ebi.ac.uk/efo/EFO_0006918 node EFO_0004440 AB SOLiD 5500 null http://www.ebi.ac.uk/efo/EFO_0004440 node EFO_0003513 obsolete_neuromast null http://www.ebi.ac.uk/efo/EFO_0003513 node CHEBI_71182 trans-3-hydroxycotinine null http://purl.obolibrary.org/obo/CHEBI_71182 node Orphanet_2663 Nathalie syndrome null http://www.orpha.net/ORDO/Orphanet_2663 node EFO_0004253 nephrolithiasis null http://www.ebi.ac.uk/efo/EFO_0004253 node CL_0002231 epithelial cell of prostate null http://purl.obolibrary.org/obo/CL_0002231 node Orphanet_443098 hyperostosis cranialis interna null http://www.orpha.net/ORDO/Orphanet_443098 node Orphanet_262047 Partial deletion of the long arm of chromosome 6 null http://www.orpha.net/ORDO/Orphanet_262047 node Orphanet_231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation null http://www.orpha.net/ORDO/Orphanet_231120 node Orphanet_157954 ANE syndrome null http://www.orpha.net/ORDO/Orphanet_157954 node EFO_0006580 HEY null http://www.ebi.ac.uk/efo/EFO_0006580 node Orphanet_85112 Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma null http://www.orpha.net/ORDO/Orphanet_85112 node MONDO_0001331 conjunctival deposit null http://purl.obolibrary.org/obo/MONDO_0001331 node EFO_0002983 ILSXISS41/TejJ null http://www.ebi.ac.uk/efo/EFO_0002983 node EFO_0006886 pancreaticobiliary malunion null http://www.ebi.ac.uk/efo/EFO_0006886 node EFO_0007728 FVB/NJ null http://www.ebi.ac.uk/efo/EFO_0007728 node Orphanet_169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta null http://www.orpha.net/ORDO/Orphanet_169160 node Orphanet_370924 STT3B-CDG null http://www.orpha.net/ORDO/Orphanet_370924 node EFO_0006699 NOF151 null http://www.ebi.ac.uk/efo/EFO_0006699 node EFO_0007038 Influenza A seropositivity null http://www.ebi.ac.uk/efo/EFO_0007038 node MONDO_0024611 orbit neoplasm null http://purl.obolibrary.org/obo/MONDO_0024611 node MONDO_0012538 nemaline myopathy 7 null http://purl.obolibrary.org/obo/MONDO_0012538 node NCBITaxon_5353 Lentinula edodes null http://purl.obolibrary.org/obo/NCBITaxon_5353 node MONDO_0017120 other syndrome with a central nervous system malformation as major feature Editor note: consider deleting all 'other' terms http://purl.obolibrary.org/obo/MONDO_0017120 node CHEBI_63933 Aroclor 1254 null http://purl.obolibrary.org/obo/CHEBI_63933 node EFO_0009714 chronic disease null http://www.ebi.ac.uk/efo/EFO_0009714 node FBbt_00005665 embryonic central brain neuron null http://purl.obolibrary.org/obo/FBbt_00005665 node UBERON_0001691 external ear null http://purl.obolibrary.org/obo/UBERON_0001691 node EFO_0007347 listeriosis null http://www.ebi.ac.uk/efo/EFO_0007347 node MONDO_0003200 urethra adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0003200 node EFO_0001650 placode null http://www.ebi.ac.uk/efo/EFO_0001650 node Orphanet_3218 Deafness - epiphyseal dysplasia - short stature null http://www.orpha.net/ORDO/Orphanet_3218 node MONDO_0001302 hypertensive heart disease null http://purl.obolibrary.org/obo/MONDO_0001302 node EFO_0009802 number of operations, self-reported null http://www.ebi.ac.uk/efo/EFO_0009802 node EFO_0009615 ankle fracture null http://www.ebi.ac.uk/efo/EFO_0009615 node MONDO_0001700 megaloblastic anemia (disease) null http://purl.obolibrary.org/obo/MONDO_0001700 node FBbt_00005548 head mesoderm anlage null http://purl.obolibrary.org/obo/FBbt_00005548 node Orphanet_289483 Intellectual disability - alacrima - achalasia null http://www.orpha.net/ORDO/Orphanet_289483 node EFO_1001930 idiopathic osteonecrosis of the femoral head null http://www.ebi.ac.uk/efo/EFO_1001930 node MONDO_0018699 pseudohypoparathyroidism with Albright hereditary osteodystrophy null http://purl.obolibrary.org/obo/MONDO_0018699 node EFO_0009197 Pulmonary arterial hypertension associated with portal hypertension null http://www.ebi.ac.uk/efo/EFO_0009197 node GO_0009150 purine ribonucleotide metabolic process null http://purl.obolibrary.org/obo/GO_0009150 node EFO_1001753 abdominal abscess null http://www.ebi.ac.uk/efo/EFO_1001753 node EFO_0007248 egg allergy null http://www.ebi.ac.uk/efo/EFO_0007248 node MONDO_0020593 trichoblastoma null http://purl.obolibrary.org/obo/MONDO_0020593 node Orphanet_79501 Punctate palmoplantar keratoderma type 1 null http://www.orpha.net/ORDO/Orphanet_79501 node HP_0030190 Oral motor hypotonia null http://purl.obolibrary.org/obo/HP_0030190 node Orphanet_101111 Spinocerebellar ataxia type 25 null http://www.orpha.net/ORDO/Orphanet_101111 node EFO_1000490 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type null http://www.ebi.ac.uk/efo/EFO_1000490 node EFO_1001332 Giant Lymph Node Hyperplasia null http://www.ebi.ac.uk/efo/EFO_1001332 node Orphanet_93430 Multiple metaphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_93430 node Orphanet_1553 Curry-Jones syndrome null http://www.orpha.net/ORDO/Orphanet_1553 node EFO_1001813 Nasal Septal Perforation null http://www.ebi.ac.uk/efo/EFO_1001813 node EFO_0005762 neuropathic pain null http://www.ebi.ac.uk/efo/EFO_0005762 node EFO_1000709 pemphigoid gestationis null http://www.ebi.ac.uk/efo/EFO_1000709 node CHEBI_35679 antilipemic drug null http://purl.obolibrary.org/obo/CHEBI_35679 node CHEBI_35222 inhibitor role null http://purl.obolibrary.org/obo/CHEBI_35222 node EO_0001020 carbon dioxide treatment null http://purl.obolibrary.org/obo/EO_0001020 node CHEBI_53424 polysorbate 20 null http://purl.obolibrary.org/obo/CHEBI_53424 node MONDO_0004680 primary thrombocytopenia null http://purl.obolibrary.org/obo/MONDO_0004680 node MONDO_0015879 non-syndromic diaphragmatic or thoracic malformation null http://purl.obolibrary.org/obo/MONDO_0015879 node EFO_0001937 obsolete_vastus lateralis null http://www.ebi.ac.uk/efo/EFO_0001937 node CHEBI_17596 inosine null http://purl.obolibrary.org/obo/CHEBI_17596 node EFO_0010254 obsolete_Popov-Chang syndrome null http://www.ebi.ac.uk/efo/EFO_0010254 node EFO_0002174 EB3 null http://www.ebi.ac.uk/efo/EFO_0002174 node EFO_0001247 T47D null http://www.ebi.ac.uk/efo/EFO_0001247 node EFO_0000078 CS57732 null http://www.ebi.ac.uk/efo/EFO_0000078 node EFO_0000663 pool null http://www.ebi.ac.uk/efo/EFO_0000663 node GO_0070092 regulation of glucagon secretion null http://purl.obolibrary.org/obo/GO_0070092 node CHEBI_16411 indole-3-acetic acid null http://purl.obolibrary.org/obo/CHEBI_16411 node EFO_1001420 Schistosomiasis mansoni null http://www.ebi.ac.uk/efo/EFO_1001420 node EFO_0005850 emphysema pattern measurement null http://www.ebi.ac.uk/efo/EFO_0005850 node EFO_0004923 peripheral vein null http://www.ebi.ac.uk/efo/EFO_0004923 node UBERON_0003099 cranial neural crest null http://purl.obolibrary.org/obo/UBERON_0003099 node HP_0011471 Gastrostomy tube feeding in infancy This is an extremely severe form of feeding problems in infancy. http://purl.obolibrary.org/obo/HP_0011471 node PO_0007065 LP.05 five leaves visible stage null http://purl.obolibrary.org/obo/PO_0007065 node UBERON_0003118 pharyngeal arch artery 1 null http://purl.obolibrary.org/obo/UBERON_0003118 node EFO_0004056 CB4857 null http://www.ebi.ac.uk/efo/EFO_0004056 node UBERON_2001266 ovarian follicle stage III null http://purl.obolibrary.org/obo/UBERON_2001266 node MONDO_0010946 hypertrophic cardiomyopathy 6 null http://purl.obolibrary.org/obo/MONDO_0010946 node MONDO_0015323 teratogenic Pierre Robin syndrome null http://purl.obolibrary.org/obo/MONDO_0015323 node MONDO_0030907 intellectual disability, X-linked 106 null http://purl.obolibrary.org/obo/MONDO_0030907 node EFO_0002262 NCI-H1666 null http://www.ebi.ac.uk/efo/EFO_0002262 node EFO_0001335 obsolete_behavioural disease null http://www.ebi.ac.uk/efo/EFO_0001335 node EFO_0000166 CS57924 null http://www.ebi.ac.uk/efo/EFO_0000166 node Orphanet_1172 Autosomal recessive cerebellar ataxia null http://www.orpha.net/ORDO/Orphanet_1172 node EFO_0000751 methylation profiling null http://www.ebi.ac.uk/efo/EFO_0000751 node MONDO_0017631 rare tumor of gallbladder and extrahepatic biliary tract Editor note: TODO http://purl.obolibrary.org/obo/MONDO_0017631 node PO_0000017 vascular leaf primordium null http://purl.obolibrary.org/obo/PO_0000017 node EFO_0001158 GM12815 null http://www.ebi.ac.uk/efo/EFO_0001158 node GO_0007588 excretion null http://purl.obolibrary.org/obo/GO_0007588 node EFO_0002075 PEL-5 null http://www.ebi.ac.uk/efo/EFO_0002075 node Orphanet_84 Fanconi anemia null http://www.orpha.net/ORDO/Orphanet_84 node EFO_0003806 interleukin-26 (Homo sapiens) null http://www.ebi.ac.uk/efo/EFO_0003806 node MONDO_0021804 silicotuberculosis null http://purl.obolibrary.org/obo/MONDO_0021804 node NCBITaxon_561307 Staphylococcus aureus subsp. aureus RN4220 null http://purl.obolibrary.org/obo/NCBITaxon_561307 node CHEBI_40036 amitrole null http://purl.obolibrary.org/obo/CHEBI_40036 node CHEBI_85832 triacylglycerol 50:4 null http://purl.obolibrary.org/obo/CHEBI_85832 node Orphanet_46627 Char syndrome null http://www.orpha.net/ORDO/Orphanet_46627 node Orphanet_363958 17q21.31 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_363958 node EFO_0003116 NCI-H125 null http://www.ebi.ac.uk/efo/EFO_0003116 node Orphanet_77828 Genetic obesity We place OMIM:601665 here, although this includes http://www.orpha.net/ORDO/Orphanet_77828 node Orphanet_221150 Pitt-Hopkins-like syndrome null http://www.orpha.net/ORDO/Orphanet_221150 node UBERON_0006965 vascular cord null http://purl.obolibrary.org/obo/UBERON_0006965 node CHEBI_50790 aromatase inhibitor null http://purl.obolibrary.org/obo/CHEBI_50790 node Orphanet_1260 Sino-auricular heart block null http://www.orpha.net/ORDO/Orphanet_1260 node EFO_1000090 Appendix Goblet Cell Carcinoid null http://www.ebi.ac.uk/efo/EFO_1000090 node MONDO_0021386 neoplasm of mediastinum null http://purl.obolibrary.org/obo/MONDO_0021386 node HP_0200026 Ocular pain null http://purl.obolibrary.org/obo/HP_0200026 node NCBITaxon_156532 Lilium hybrid division I null http://purl.obolibrary.org/obo/NCBITaxon_156532 node EFO_0007536 vesicoureteral reflux null http://www.ebi.ac.uk/efo/EFO_0007536 node EFO_0006609 KHM-1B null http://www.ebi.ac.uk/efo/EFO_0006609 node CL_0000362 epidermal cell null http://purl.obolibrary.org/obo/CL_0000362 node UBERON_0000995 uterus null http://purl.obolibrary.org/obo/UBERON_0000995 node NCBITaxon_146821 Streptomyces reticuliscabiei null http://purl.obolibrary.org/obo/NCBITaxon_146821 node Orphanet_93100 Unilateral renal agenesis null http://www.orpha.net/ORDO/Orphanet_93100 node NCBITaxon_87674 Eucalyptus nitens null http://purl.obolibrary.org/obo/NCBITaxon_87674 node Orphanet_329931 C3 glomerulonephritis null http://www.orpha.net/ORDO/Orphanet_329931 node UBERON_0007290 presumptive rhombomere 3 null http://purl.obolibrary.org/obo/UBERON_0007290 node Orphanet_35858 Gräsbeck-Imerslund disease null http://www.orpha.net/ORDO/Orphanet_35858 node CLO_0027487 GM15221 null http://purl.obolibrary.org/obo/CLO_0027487 node EFO_0006963 Ts-1 null http://www.ebi.ac.uk/efo/EFO_0006963 node HP_0003698 Difficulty standing null http://purl.obolibrary.org/obo/HP_0003698 node PO_0030003 protonema The protonema is the first structure that develops in the gametophytic phase of mosses, some other bryophytes, and leptosporangiate ferns. The term protonema is also used to refer to the phase of development in which protonemal tissue is produced (see PO:0030006 protonema phase). In some species of moss, the protonema is perennial. A protonema may develop from sporophytic tissue during apospory. http://purl.obolibrary.org/obo/PO_0030003 node Orphanet_254843 Exercise intolerance with lactic acidosis null http://www.orpha.net/ORDO/Orphanet_254843 node CHEBI_64481 lysophosphatidylcholine 20:3 null http://purl.obolibrary.org/obo/CHEBI_64481 node EFO_0007624 suicide null http://www.ebi.ac.uk/efo/EFO_0007624 node EFO_0009490 nervous system injury null http://www.ebi.ac.uk/efo/EFO_0009490 node EFO_0008563 Illumina HiSeq 4000 null http://www.ebi.ac.uk/efo/EFO_0008563 node GO_0032501 multicellular organismal process null http://purl.obolibrary.org/obo/GO_0032501 node EFO_0008386 body odor measurement null http://www.ebi.ac.uk/efo/EFO_0008386 node EFO_0007437 Phlebotomus fever null http://www.ebi.ac.uk/efo/EFO_0007437 node MONDO_0001110 chronic pyelonephritis null http://purl.obolibrary.org/obo/MONDO_0001110 node EFO_0008651 AGO-CLIP null http://www.ebi.ac.uk/efo/EFO_0008651 node GO_0005737 cytoplasm null http://purl.obolibrary.org/obo/GO_0005737 node Orphanet_325118 46,XY disorder of gonadal development null http://www.orpha.net/ORDO/Orphanet_325118 node EFO_0008474 spine bone mineral density change measurement null http://www.ebi.ac.uk/efo/EFO_0008474 node EFO_0007905 joint hypermobility measurement null http://www.ebi.ac.uk/efo/EFO_0007905 node PO_0025475 coleorhiza emergence stage null http://purl.obolibrary.org/obo/PO_0025475 node EFO_0002844 PC-14 null http://www.ebi.ac.uk/efo/EFO_0002844 node EFO_0000852 obsolete_adrenal medulla null http://www.ebi.ac.uk/efo/EFO_0000852 node FBbt_00017009 ring gland primordium null http://purl.obolibrary.org/obo/FBbt_00017009 node MONDO_0030072 developmental and epileptic encephalopathy, 88 null http://purl.obolibrary.org/obo/MONDO_0030072 node EFO_0003584 obsolete_floor plate rhombomere 1 null http://www.ebi.ac.uk/efo/EFO_0003584 node NCBITaxon_11260 Human respiratory syncytial virus A strain Long null http://purl.obolibrary.org/obo/NCBITaxon_11260 node Orphanet_2612 Linear nevus sebaceus syndrome null http://www.orpha.net/ORDO/Orphanet_2612 node EFO_0001043 obsolete_wood parenchyma null http://www.ebi.ac.uk/efo/EFO_0001043 node EFO_0000898 obsolete_somatic nervous system null http://www.ebi.ac.uk/efo/EFO_0000898 node CL_1001567 lung endothelial cell null http://purl.obolibrary.org/obo/CL_1001567 node Orphanet_168491 Late infantile neuronal ceroid lipofuscinosis null http://www.orpha.net/ORDO/Orphanet_168491 node EFO_0009682 pregnancy disorder null http://www.ebi.ac.uk/efo/EFO_0009682 node EFO_0000940 obsolete_chordotonal organ null http://www.ebi.ac.uk/efo/EFO_0000940 node CL_0002401 mature dendritic epithelial T cell precursor NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. http://purl.obolibrary.org/obo/CL_0002401 node MONDO_0002664 extrahepatic bile duct signet ring cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0002664 node MONDO_0002459 type IV hypersensitivity disease We make this equivalent with the UMLS concept for the reaction http://purl.obolibrary.org/obo/MONDO_0002459 node MONDO_0020081 macrophage or histiocytic tumor null http://purl.obolibrary.org/obo/MONDO_0020081 node EFO_0003672 obsolete_vagal ganglion 3 null http://www.ebi.ac.uk/efo/EFO_0003672 node EFO_0002745 NOD.B6 null http://www.ebi.ac.uk/efo/EFO_0002745 node EFO_0002191 HEC1A null http://www.ebi.ac.uk/efo/EFO_0002191 node EFO_0002568 embryonic day 17.5 null http://www.ebi.ac.uk/efo/EFO_0002568 node EFO_0009418 CCL24 measurement null http://www.ebi.ac.uk/efo/EFO_0009418 node UBERON_0001601 extra-ocular muscle null http://purl.obolibrary.org/obo/UBERON_0001601 node Orphanet_812 sialidosis type I null http://www.orpha.net/ORDO/Orphanet_812 node EFO_1000871 colonic pseudo-obstruction null http://www.ebi.ac.uk/efo/EFO_1000871 node HP_0000248 Brachycephaly Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately. http://purl.obolibrary.org/obo/HP_0000248 node EFO_0001131 GM12006 null http://www.ebi.ac.uk/efo/EFO_0001131 node HP_0000833 obsolete Glucose intolerance null http://purl.obolibrary.org/obo/HP_0000833 node Orphanet_2442 X-linked lymphoproliferative disease Editor note: two OMIMPS http://www.orpha.net/ORDO/Orphanet_2442 node EFO_0009770 leucine measurement null http://www.ebi.ac.uk/efo/EFO_0009770 node EFO_0009080 x-linked ichthyosis with steryl-sulfatase deficiency null http://www.ebi.ac.uk/efo/EFO_0009080 node MONDO_0002547 nerve sheath neoplasm null http://purl.obolibrary.org/obo/MONDO_0002547 node HANCESTRO_0498 Filipino null http://purl.obolibrary.org/obo/HANCESTRO_0498 node UBERON_0000109 gastrula stage null http://purl.obolibrary.org/obo/UBERON_0000109 node EFO_0004731 eye measurement null http://www.ebi.ac.uk/efo/EFO_0004731 node EFO_0004526 mean corpuscular volume null http://www.ebi.ac.uk/efo/EFO_0004526 node NCBITaxon_44249 Paenibacillus null http://purl.obolibrary.org/obo/NCBITaxon_44249 node EFO_0003760 central nervous system cyst null http://www.ebi.ac.uk/efo/EFO_0003760 node Orphanet_100982 Autosomal recessive pure spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_100982 node CHEBI_106363 sphingomyelin d18:1/16:1 null http://purl.obolibrary.org/obo/CHEBI_106363 node Orphanet_295065 Femoral agenesis/hypoplasia, unilateral null http://www.orpha.net/ORDO/Orphanet_295065 node Orphanet_284818 Disorder of tyrosine metabolism null http://www.orpha.net/ORDO/Orphanet_284818 node EFO_0001014 obsolete_root cap null http://www.ebi.ac.uk/efo/EFO_0001014 node HP_0000921 Missing ribs null http://purl.obolibrary.org/obo/HP_0000921 node EFO_0000430 obsolete_ductal adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0000430 node CHEBI_17761 ceramide null http://purl.obolibrary.org/obo/CHEBI_17761 node EFO_1001111 placental site trophoblastic tumor null http://www.ebi.ac.uk/efo/EFO_1001111 node Orphanet_642 Hereditary sensory and autonomic neuropathy type 4 null http://www.orpha.net/ORDO/Orphanet_642 node EFO_0001412 obsolete_deltoid null http://www.ebi.ac.uk/efo/EFO_0001412 node NCBITaxon_104660 Pinctada maxima null http://purl.obolibrary.org/obo/NCBITaxon_104660 node EFO_0005541 bone development disease null http://www.ebi.ac.uk/efo/EFO_0005541 node EFO_0004614 apolipoprotein A 1 measurement null http://www.ebi.ac.uk/efo/EFO_0004614 node Orphanet_294973 Humeral agenesis/hypoplasia null http://www.orpha.net/ORDO/Orphanet_294973 node CLO_0014375 GM17220 null http://purl.obolibrary.org/obo/CLO_0014375 node EFO_1000429 Ovarian Sertoli-Leydig Cell Tumor null http://www.ebi.ac.uk/efo/EFO_1000429 node NCBITaxon_48885 Geospiza magnirostris null http://purl.obolibrary.org/obo/NCBITaxon_48885 node EFO_0003000 ILSXISS97/TejJ null http://www.ebi.ac.uk/efo/EFO_0003000 node ZFA_0000972 slow muscle cell somite 4 null http://purl.obolibrary.org/obo/ZFA_0000972 node Orphanet_93335 Postaxial polydactyly type B null http://www.orpha.net/ORDO/Orphanet_93335 node Orphanet_276198 Spinocerebellar ataxia type 36 null http://www.orpha.net/ORDO/Orphanet_276198 node NCBITaxon_33959 Lactobacillus johnsonii null http://purl.obolibrary.org/obo/NCBITaxon_33959 node EFO_0010349 cholesteryl ester 20:5 measurement null http://www.ebi.ac.uk/efo/EFO_0010349 node EFO_0010431 triacylglycerol 56:4 measurement null http://www.ebi.ac.uk/efo/EFO_0010431 node EFO_0007987 granulocyte count null http://www.ebi.ac.uk/efo/EFO_0007987 node Orphanet_1708 Mosaic trisomy 16 null http://www.orpha.net/ORDO/Orphanet_1708 node Orphanet_94061 Macrocephaly - immune deficiency - anemia null http://www.orpha.net/ORDO/Orphanet_94061 node EFO_1000036 lactic acidosis null http://www.ebi.ac.uk/efo/EFO_1000036 node CHEBI_17362 quinoline null http://purl.obolibrary.org/obo/CHEBI_17362 node EFO_1000517 Salivary Gland Large Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000517 node EFO_0010614 follistatin measurement null http://www.ebi.ac.uk/efo/EFO_0010614 node EFO_0010409 triacylglycerol 50:2 measurement null http://www.ebi.ac.uk/efo/EFO_0010409 node EFO_0006771 UM-UC-3 null http://www.ebi.ac.uk/efo/EFO_0006771 node CLO_0016516 GM17824 null http://purl.obolibrary.org/obo/CLO_0016516 node MONDO_0018549 late-onset scapuloperoneal muscular dystrophy with hyaline bodies null http://purl.obolibrary.org/obo/MONDO_0018549 node NCBITaxon_405566 Lactobacillus helveticus DPC 4571 null http://purl.obolibrary.org/obo/NCBITaxon_405566 node NCBITaxon_58095 Salmonella enterica subsp. enterica serovar Agona null http://purl.obolibrary.org/obo/NCBITaxon_58095 node EFO_0010203 cell barcode read null http://www.ebi.ac.uk/efo/EFO_0010203 node EFO_1000124 Biphasic Mesothelioma null http://www.ebi.ac.uk/efo/EFO_1000124 node Orphanet_2759 Imperforate oropharynx - costo vetebral anomalies null http://www.orpha.net/ORDO/Orphanet_2759 node Orphanet_309813 Disorder of porphyrin and haem metabolism Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired. http://www.orpha.net/ORDO/Orphanet_309813 node EFO_0010016 HiRes-Seq null http://www.ebi.ac.uk/efo/EFO_0010016 node MONDO_0001639 deficiency anemia null http://purl.obolibrary.org/obo/MONDO_0001639 node CL_0002327 mammary gland epithelial cell null http://purl.obolibrary.org/obo/CL_0002327 node PO_0020147 root apical meristem null http://purl.obolibrary.org/obo/PO_0020147 node CHEBI_46053 2,4,6-trinitrotoluene null http://purl.obolibrary.org/obo/CHEBI_46053 node EFO_0006296 STS26T null http://www.ebi.ac.uk/efo/EFO_0006296 node CHEBI_15756 Hexadecanoic acid null http://purl.obolibrary.org/obo/CHEBI_15756 node EFO_0007701 spine bone mineral density null http://www.ebi.ac.uk/efo/EFO_0007701 node CLO_0016604 GM17764 null http://purl.obolibrary.org/obo/CLO_0016604 node PO_0007014 booting stage Booting is a term used specifically for grasses (Poaceae). http://purl.obolibrary.org/obo/PO_0007014 node EFO_0010905 BK polyomavirus seropositivity null http://www.ebi.ac.uk/efo/EFO_0010905 node Orphanet_100006 Hereditary cerebral hemorrhage with amyloidosis, Dutch type null http://www.orpha.net/ORDO/Orphanet_100006 node EFO_0010718 response to amisulpride null http://www.ebi.ac.uk/efo/EFO_0010718 node NCBITaxon_62690 Blumeria graminis f. sp. tritici null http://purl.obolibrary.org/obo/NCBITaxon_62690 node Orphanet_254534 Maternal 14q32.2 hypermethylation syndrome null http://www.orpha.net/ORDO/Orphanet_254534 node EFO_0005408 pyroglutamine measurement null http://www.ebi.ac.uk/efo/EFO_0005408 node Orphanet_2847 Pericardial and diaphragmatic defect null http://www.orpha.net/ORDO/Orphanet_2847 node EFO_0004437 AB SOLiD PI System null http://www.ebi.ac.uk/efo/EFO_0004437 node CHEBI_138346 triacylglycerol 54:9 null http://purl.obolibrary.org/obo/CHEBI_138346 node MONDO_0023865 corneal infection null http://purl.obolibrary.org/obo/MONDO_0023865 node CHEBI_8107 phenytoin null http://purl.obolibrary.org/obo/CHEBI_8107 node EFO_0010104 health literacy measurement null http://www.ebi.ac.uk/efo/EFO_0010104 node EFO_0007283 geographic tongue null http://www.ebi.ac.uk/efo/EFO_0007283 node CHEBI_71179 O-tiglylcarnitine null http://purl.obolibrary.org/obo/CHEBI_71179 node CL_0000002 obsolete immortal cell line cell Obsoleted in July 2013 and replaced by the CLO 'immortal cell line cell' class, as a result of CLO-OBI-CL alignment efforts. Covers cells actively being cultured or stored in a quiescent state for future use. http://purl.obolibrary.org/obo/CL_0000002 node Orphanet_959 Acro-renal-ocular syndrome null http://www.orpha.net/ORDO/Orphanet_959 node Orphanet_98585 Palpebral sebaceous gland tumor null http://www.orpha.net/ORDO/Orphanet_98585 node UBERON_0000997 mammalian vulva null http://purl.obolibrary.org/obo/UBERON_0000997 node MONDO_0001515 corneal degeneration null http://purl.obolibrary.org/obo/MONDO_0001515 node EFO_0010806 enrichment of phosphorylated protein null http://www.ebi.ac.uk/efo/EFO_0010806 node MONDO_0000486 craniofacial dystonia null http://purl.obolibrary.org/obo/MONDO_0000486 node MONDO_0001328 thyroid hormone resistance syndrome null http://purl.obolibrary.org/obo/MONDO_0001328 node ZFA_0009150 Rohon-Beard neuron null http://purl.obolibrary.org/obo/ZFA_0009150 node EFO_0006444 HT55 null http://www.ebi.ac.uk/efo/EFO_0006444 node GO_0044446 intracellular organelle part null http://purl.obolibrary.org/obo/GO_0044446 node EFO_0009082 Pilomatrixoma null http://www.ebi.ac.uk/efo/EFO_0009082 node CHEBI_35481 non-narcotic analgesic null http://purl.obolibrary.org/obo/CHEBI_35481 node MONDO_0000075 neuronopathy, distal hereditary motor See genetic heterogeneity of OMIM 182960. http://purl.obolibrary.org/obo/MONDO_0000075 node Orphanet_99989 Intermediate DEND syndrome null http://www.orpha.net/ORDO/Orphanet_99989 node EFO_0008565 Illumina HiSeq 2500 null http://www.ebi.ac.uk/efo/EFO_0008565 node MONDO_0020398 congenital mitral stenosis (disease) null http://purl.obolibrary.org/obo/MONDO_0020398 node Orphanet_209059 Qualitative or quantitative defects of alpha-actin null http://www.orpha.net/ORDO/Orphanet_209059 node EFO_0007592 response to bleomycin null http://www.ebi.ac.uk/efo/EFO_0007592 node EFO_0008388 gamma wave measurement null http://www.ebi.ac.uk/efo/EFO_0008388 node EFO_0008869 PRO-seq null http://www.ebi.ac.uk/efo/EFO_0008869 node MONDO_0000369 abdominal tuberculosis null http://purl.obolibrary.org/obo/MONDO_0000369 node MONDO_0001416 female reproductive organ cancer null http://purl.obolibrary.org/obo/MONDO_0001416 node EFO_0001990 obsolete_orbitofrontal cortex null http://www.ebi.ac.uk/efo/EFO_0001990 node EFO_0009170 response to tyrosine kinase inhibitor null http://www.ebi.ac.uk/efo/EFO_0009170 node Orphanet_401862 Lipoyl transferase 1 deficiency null http://www.orpha.net/ORDO/Orphanet_401862 node EFO_0008653 ARS-Seq null http://www.ebi.ac.uk/efo/EFO_0008653 node MONDO_0002355 glottis carcinoma null http://purl.obolibrary.org/obo/MONDO_0002355 node EFO_0008476 delayed reward discounting measurement null http://www.ebi.ac.uk/efo/EFO_0008476 node MONDO_0004789 cholangitis null http://purl.obolibrary.org/obo/MONDO_0004789 node EFO_0003363 obsolete_amnioserosa primordium null http://www.ebi.ac.uk/efo/EFO_0003363 node EO_0007200 short day length regimen null http://purl.obolibrary.org/obo/EO_0007200 node Orphanet_329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q null http://www.orpha.net/ORDO/Orphanet_329258 node Orphanet_169808 Mild hemophilia A null http://www.orpha.net/ORDO/Orphanet_169808 node NCBITaxon_204773 Herminiimonas arsenicoxydans null http://purl.obolibrary.org/obo/NCBITaxon_204773 node EFO_0008077 CD209 antigen measurement null http://www.ebi.ac.uk/efo/EFO_0008077 node Orphanet_221054 Acrocephalopolydactyly Editor note: check GARD http://www.orpha.net/ORDO/Orphanet_221054 node MONDO_0020574 central nervous system nongerminomatous germ cell tumor null http://purl.obolibrary.org/obo/MONDO_0020574 node EFO_0010683 localized superficial swelling, mass, or lump null http://www.ebi.ac.uk/efo/EFO_0010683 node EFO_1000399 Non-Functioning Adrenal Cortex Adenoma null http://www.ebi.ac.uk/efo/EFO_1000399 node Orphanet_245 Nager syndrome null http://www.orpha.net/ORDO/Orphanet_245 node EFO_1001927 cutaneous squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_1001927 node HP_0001769 Broad foot null http://purl.obolibrary.org/obo/HP_0001769 node EFO_0000379 obsolete_corpus allatum null http://www.ebi.ac.uk/efo/EFO_0000379 node MONDO_0020795 Silver-Russell syndrome 5 null http://purl.obolibrary.org/obo/MONDO_0020795 node EFO_1001191 steatitis null http://www.ebi.ac.uk/efo/EFO_1001191 node HP_0002080 Intention tremor null http://purl.obolibrary.org/obo/HP_0002080 node EFO_0008165 interferon gamma measurement null http://www.ebi.ac.uk/efo/EFO_0008165 node UBERON_0002120 pronephros Once the more complex mesonephros forms the pronephros undergoes apoptosis in amphibians. In fishes the nephron degenerates but the organ remains and becomes a component of the immune system[Wikipedia:Pronephros]. // TODO - check developmental relationships. Note that we previously include the ZFA/XAO terms under the more specific 'pronephric kidney', but these are now merged. TODO GCI: relationship: capable_of GO:0030104 http://purl.obolibrary.org/obo/UBERON_0002120 node EFO_1000487 Plexiform Ameloblastoma null http://www.ebi.ac.uk/efo/EFO_1000487 node Orphanet_333 Farber lipogranulomatosis null http://www.orpha.net/ORDO/Orphanet_333 node NCBITaxon_55205 Caldicellulosiruptor owensensis null http://purl.obolibrary.org/obo/NCBITaxon_55205 node EFO_0010584 cancer antigen 19.9 measurement null http://www.ebi.ac.uk/efo/EFO_0010584 node EFO_0009867 dysphoria null http://www.ebi.ac.uk/efo/EFO_0009867 node CHEBI_35219 plant growth retardant null http://purl.obolibrary.org/obo/CHEBI_35219 node HP_0002597 Abnormality of the vasculature null http://purl.obolibrary.org/obo/HP_0002597 node CLO_0013775 GM17187 null http://purl.obolibrary.org/obo/CLO_0013775 node EFO_0010888 HG03565 null http://www.ebi.ac.uk/efo/EFO_0010888 node EFO_0002376 SW954 null http://www.ebi.ac.uk/efo/EFO_0002376 node MONDO_0020720 X-linked hypophosphatemic rickets (recessive or dominant) null http://purl.obolibrary.org/obo/MONDO_0020720 node Orphanet_75376 Familial drusen null http://www.orpha.net/ORDO/Orphanet_75376 node Orphanet_166105 FASTKD2-related infantile mitochondrial encephalomyopathy null http://www.orpha.net/ORDO/Orphanet_166105 node EFO_1000575 Therapy-Related Myeloid Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000575 node EFO_0000702 small cell lung carcinoma null http://www.ebi.ac.uk/efo/EFO_0000702 node Orphanet_69083 Ectodermal dysplasia with natal teeth, Turnpenny type null http://www.orpha.net/ORDO/Orphanet_69083 node EFO_0005157 Ws-1 null http://www.ebi.ac.uk/efo/EFO_0005157 node Orphanet_402041 Autosomal recessive distal renal tubular acidosis null http://www.orpha.net/ORDO/Orphanet_402041 node Orphanet_35 Propionic acidemia null http://www.orpha.net/ORDO/Orphanet_35 node EFO_0004157 BAM format null http://www.ebi.ac.uk/efo/EFO_0004157 node EFO_0002259 NCI-H1623 null http://www.ebi.ac.uk/efo/EFO_0002259 node GO_0120061 negative regulation of gastric emptying null http://purl.obolibrary.org/obo/GO_0120061 node Orphanet_503 Autosomal dominant Larsen syndrome null http://www.orpha.net/ORDO/Orphanet_503 node CHEBI_23965 estradiol null http://purl.obolibrary.org/obo/CHEBI_23965 node CLO_0014033 GM17175 null http://purl.obolibrary.org/obo/CLO_0014033 node CHEBI_15377 water null http://purl.obolibrary.org/obo/CHEBI_15377 node MONDO_0006751 Erysipelothrix infectious disease null http://purl.obolibrary.org/obo/MONDO_0006751 node NCBITaxon_41048 Neosartorya fennelliae null http://purl.obolibrary.org/obo/NCBITaxon_41048 node EFO_0006373 COLO 680N null http://www.ebi.ac.uk/efo/EFO_0006373 node EFO_0000051 CS57646 null http://www.ebi.ac.uk/efo/EFO_0000051 node MONDO_0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy null http://purl.obolibrary.org/obo/MONDO_0060640 node EFO_0004245 obsolete_iris null http://www.ebi.ac.uk/efo/EFO_0004245 node EFO_0007091 HUES65 null http://www.ebi.ac.uk/efo/EFO_0007091 node Orphanet_352470 Mitochondrial DNA deletion syndrome with progressive myopathy null http://www.orpha.net/ORDO/Orphanet_352470 node MONDO_0016230 simple vascular malformation null http://purl.obolibrary.org/obo/MONDO_0016230 node PATO_0001377 polyploid null http://purl.obolibrary.org/obo/PATO_0001377 node MONDO_0000944 cerebral artery occlusion null http://purl.obolibrary.org/obo/MONDO_0000944 node Orphanet_36899 Myoclonus-dystonia syndrome null http://www.orpha.net/ORDO/Orphanet_36899 node MONDO_0015126 polyendocrinopathy null http://purl.obolibrary.org/obo/MONDO_0015126 node EFO_0006461 ovarian granulosa tumour null http://www.ebi.ac.uk/efo/EFO_0006461 node MONDO_0008553 platelet-type bleeding disorder 17 null http://purl.obolibrary.org/obo/MONDO_0008553 node CHEBI_16348 3-nitropropionic acid null http://purl.obolibrary.org/obo/CHEBI_16348 node Orphanet_261279 17q23.1q23.2 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261279 node EFO_0005272 sleep quality null http://www.ebi.ac.uk/efo/EFO_0005272 node EFO_0005095 PR segment null http://www.ebi.ac.uk/efo/EFO_0005095 node MONDO_0023369 disease of facial skeleton null http://purl.obolibrary.org/obo/MONDO_0023369 node EFO_0009886 blood vessel injury null http://www.ebi.ac.uk/efo/EFO_0009886 node Orphanet_97234 Glycogen storage disease due to phosphoglycerate mutase deficiency null http://www.orpha.net/ORDO/Orphanet_97234 node Orphanet_79298 Diazoxide-resistant focal hyperinsulinism null http://www.orpha.net/ORDO/Orphanet_79298 node Orphanet_324601 X-linked cleft palate and ankyloglossia null http://www.orpha.net/ORDO/Orphanet_324601 node EFO_0008725 DSBCapture null http://www.ebi.ac.uk/efo/EFO_0008725 node EFO_0006298 Swiss2 null http://www.ebi.ac.uk/efo/EFO_0006298 node EFO_0000525 obsolete_hematological neoplasm null http://www.ebi.ac.uk/efo/EFO_0000525 node NCBITaxon_71412 Fenneropenaeus merguiensis null http://purl.obolibrary.org/obo/NCBITaxon_71412 node Orphanet_210110 Intermediate osteopetrosis null http://www.orpha.net/ORDO/Orphanet_210110 node EFO_0001185 HeLa null http://www.ebi.ac.uk/efo/EFO_0001185 node MONDO_0000253 piedra null http://purl.obolibrary.org/obo/MONDO_0000253 node EFO_1001206 syphilitic aortitis null http://www.ebi.ac.uk/efo/EFO_1001206 node EFO_0009487 nerve compression syndrome null http://www.ebi.ac.uk/efo/EFO_0009487 node NCBITaxon_663 Vibrio alginolyticus null http://purl.obolibrary.org/obo/NCBITaxon_663 node MONDO_0000651 thoracic disease null http://purl.obolibrary.org/obo/MONDO_0000651 node HP_0004887 Respiratory failure requiring assisted ventilation null http://purl.obolibrary.org/obo/HP_0004887 node EFO_0008946 SPLAT null http://www.ebi.ac.uk/efo/EFO_0008946 node EFO_1000863 Chlamydophila infectious disease null http://www.ebi.ac.uk/efo/EFO_1000863 node MONDO_0002211 B cell deficiency See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18 http://purl.obolibrary.org/obo/MONDO_0002211 node EFO_0003885 multiple sclerosis null http://www.ebi.ac.uk/efo/EFO_0003885 node UBERON_0000383 musculature of body null http://purl.obolibrary.org/obo/UBERON_0000383 node EFO_1000676 cholesteatoma of attic null http://www.ebi.ac.uk/efo/EFO_1000676 node EFO_0009575 mosquito-borne hemorragic fever null http://www.ebi.ac.uk/efo/EFO_0009575 node NCBITaxon_564 Escherichia fergusonii null http://purl.obolibrary.org/obo/NCBITaxon_564 node EFO_0006621 KP-2 null http://www.ebi.ac.uk/efo/EFO_0006621 node PO_0025196 basal endosperm transfer layer Involved in transferring nutrients to an embryo. http://purl.obolibrary.org/obo/PO_0025196 node Orphanet_98945 Coloboma of macula null http://www.orpha.net/ORDO/Orphanet_98945 node NCBITaxon_7029 Acyrthosiphon pisum null http://purl.obolibrary.org/obo/NCBITaxon_7029 node EFO_0000849 obsolete_appendix null http://www.ebi.ac.uk/efo/EFO_0000849 node Orphanet_585 Multiple sulfatase deficiency null http://www.orpha.net/ORDO/Orphanet_585 node EFO_1000283 Grade III Prostatic Intraepithelial Neoplasia null http://www.ebi.ac.uk/efo/EFO_1000283 node Orphanet_2609 Isolated NADH-CoQ reductase deficiency null http://www.orpha.net/ORDO/Orphanet_2609 node EFO_1000764 seborrheic dermatitis null http://www.ebi.ac.uk/efo/EFO_1000764 node EFO_0007689 3C null http://www.ebi.ac.uk/efo/EFO_0007689 node EFO_0003786 cytokine null http://www.ebi.ac.uk/efo/EFO_0003786 node HP_0001653 Mitral regurgitation null http://purl.obolibrary.org/obo/HP_0001653 node HP_0000726 Dementia null http://purl.obolibrary.org/obo/HP_0000726 node NCBITaxon_87530 Cyclamen persicum null http://purl.obolibrary.org/obo/NCBITaxon_87530 node EFO_0009663 disease of genitourinary system null http://www.ebi.ac.uk/efo/EFO_0009663 node HP_0031217 Hot flashes Hot flashes are most commonly due to menopause but may be observed with other conditions. http://purl.obolibrary.org/obo/HP_0031217 node EFO_0007250 encephalitozoonosis null http://www.ebi.ac.uk/efo/EFO_0007250 node MONDO_0029001 chemically-induced disorder null http://purl.obolibrary.org/obo/MONDO_0029001 node Orphanet_79306 Progressive familial intrahepatic cholestasis type 1 null http://www.orpha.net/ORDO/Orphanet_79306 node EFO_1000985 intermediate coronary syndrome null http://www.ebi.ac.uk/efo/EFO_1000985 node Orphanet_363680 2p13.2 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_363680 node EFO_0005754 parathyroid disease null http://www.ebi.ac.uk/efo/EFO_0005754 node EFO_0000456 obsolete_embryonic foregut null http://www.ebi.ac.uk/efo/EFO_0000456 node EFO_0004827 economic and social preference null http://www.ebi.ac.uk/efo/EFO_0004827 node EFO_1001137 pulmonary subvalvular stenosis null http://www.ebi.ac.uk/efo/EFO_1001137 node EFO_0000937 obsolete_diaphragm null http://www.ebi.ac.uk/efo/EFO_0000937 node MONDO_0004087 basaloid large cell lung carcinoma null http://purl.obolibrary.org/obo/MONDO_0004087 node EFO_1000371 Meningioangiomatosis null http://www.ebi.ac.uk/efo/EFO_1000371 node NCBITaxon_203404 Lactococcus lactis subsp. hordniae null http://purl.obolibrary.org/obo/NCBITaxon_203404 node MONDO_0020078 acute myeloid leukemia with recurrent genetic anomaly null http://purl.obolibrary.org/obo/MONDO_0020078 node EFO_0001929 obsolete_hip null http://www.ebi.ac.uk/efo/EFO_0001929 node EFO_0008242 NADPH--cytochrome P450 reductase measurement null http://www.ebi.ac.uk/efo/EFO_0008242 node UBERON_2000711 DEL null http://purl.obolibrary.org/obo/UBERON_2000711 node EFO_0009031 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome null http://www.ebi.ac.uk/efo/EFO_0009031 node Orphanet_397590 Silver-Russell syndrome due to a point mutation null http://www.orpha.net/ORDO/Orphanet_397590 node NCBITaxon_37296 Human herpesvirus 8 null http://purl.obolibrary.org/obo/NCBITaxon_37296 node Orphanet_894 Waardenburg syndrome type 1 null http://www.orpha.net/ORDO/Orphanet_894 node EFO_0001128 GM12003 null http://www.ebi.ac.uk/efo/EFO_0001128 node Orphanet_738 Porphyria Represents both genetic and sporadic forms http://www.orpha.net/ORDO/Orphanet_738 node EFO_0005842 colorectal cancer Editor note: some sources make distinct classes for colorectal vs large intestine. We follow NCIT and make these equivalent http://www.ebi.ac.uk/efo/EFO_0005842 node EFO_0000544 infection null http://www.ebi.ac.uk/efo/EFO_0000544 node EFO_0004915 vaspin measurement null http://www.ebi.ac.uk/efo/EFO_0004915 node EFO_1001225 Ureaplasma urealyticum urethritis null http://www.ebi.ac.uk/efo/EFO_1001225 node CL_0000863 inflammatory macrophage Markers: Express: TNFa, IL1b, IL6, iNOS, NADPH-oxidase; produce: reactive oxygen species, nitric oxide; role or process: immune, inflammation (inflammatory response). http://purl.obolibrary.org/obo/CL_0000863 node EFO_0005655 response to cytosine arabinoside null http://www.ebi.ac.uk/efo/EFO_0005655 node EFO_0004728 serum amyloid A protein measurement null http://www.ebi.ac.uk/efo/EFO_0004728 node EFO_0002934 lung cancer cell line null http://www.ebi.ac.uk/efo/EFO_0002934 node EFO_0008330 fear of pain measurement null http://www.ebi.ac.uk/efo/EFO_0008330 node Orphanet_100979 Autosomal dominant complex spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_100979 node CHEBI_83037 androsterone sulfate null http://purl.obolibrary.org/obo/CHEBI_83037 node MONDO_0015128 primary adrenal insufficiency null http://purl.obolibrary.org/obo/MONDO_0015128 node EFO_0002067 K562 null http://www.ebi.ac.uk/efo/EFO_0002067 node Orphanet_98523 Non-syndromic pontocerebellar hypoplasia null http://www.orpha.net/ORDO/Orphanet_98523 node Orphanet_314667 TMEM165-CDG null http://www.orpha.net/ORDO/Orphanet_314667 node MONDO_0004738 histidine metabolism disease null http://purl.obolibrary.org/obo/MONDO_0004738 node MONDO_0044705 paranasal sinus squamous cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0044705 node MONDO_0020811 mitochondrial complex III deficiency, nuclear type null http://purl.obolibrary.org/obo/MONDO_0020811 node EFO_1001313 Enterobacteriaceae Infections null http://www.ebi.ac.uk/efo/EFO_1001313 node CL_0000951 IgE short lived plasma cell null http://purl.obolibrary.org/obo/CL_0000951 node EFO_0004696 sex hormone-binding globulin measurement null http://www.ebi.ac.uk/efo/EFO_0004696 node CL_0002193 myelocyte null http://purl.obolibrary.org/obo/CL_0002193 node MONDO_0020634 grade III meningioma null http://purl.obolibrary.org/obo/MONDO_0020634 node Orphanet_89844 Lissencephaly syndrome, Norman-Roberts type null http://www.orpha.net/ORDO/Orphanet_89844 node MONDO_0044926 oropharyngeal carcinoma null http://purl.obolibrary.org/obo/MONDO_0044926 node EFO_0004101 obsolete_validation type null http://www.ebi.ac.uk/efo/EFO_0004101 node Orphanet_163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type null http://www.orpha.net/ORDO/Orphanet_163966 node Orphanet_295239 Macrodactyly of fingers, unilateral null http://www.orpha.net/ORDO/Orphanet_295239 node CLO_0014414 GM17244 null http://purl.obolibrary.org/obo/CLO_0014414 node HP_0100699 Scarring null http://purl.obolibrary.org/obo/HP_0100699 node MONDO_0011959 sweet syndrome null http://purl.obolibrary.org/obo/MONDO_0011959 node Orphanet_295144 Polydactyly of a biphalangeal thumb, unilateral null http://www.orpha.net/ORDO/Orphanet_295144 node Orphanet_96160 Non-distal monosomy 12q null http://www.orpha.net/ORDO/Orphanet_96160 node CHEBI_17790 methanol null http://purl.obolibrary.org/obo/CHEBI_17790 node Orphanet_190 Coats disease null http://www.orpha.net/ORDO/Orphanet_190 node EFO_0006547 CAL-12T null http://www.ebi.ac.uk/efo/EFO_0006547 node MONDO_0016611 lipoblastoma null http://purl.obolibrary.org/obo/MONDO_0016611 node Orphanet_306522 Familial primary hypomagnesemia with normocalcuria null http://www.orpha.net/ORDO/Orphanet_306522 node EFO_0006955 ADAMTS13 activity measurement null http://www.ebi.ac.uk/efo/EFO_0006955 node UBERON_0001040 yolk sac null http://purl.obolibrary.org/obo/UBERON_0001040 node EFO_0005913 urothelium cell line null http://www.ebi.ac.uk/efo/EFO_0005913 node MONDO_0018827 familial chilblain lupus null http://purl.obolibrary.org/obo/MONDO_0018827 node EFO_0006768 U-698-M null http://www.ebi.ac.uk/efo/EFO_0006768 node EFO_0004410 Theiler stage 20 null http://www.ebi.ac.uk/efo/EFO_0004410 node Orphanet_1397 Cerebellum agenesis - hydrocephaly null http://www.orpha.net/ORDO/Orphanet_1397 node CLO_0014900 GM17104 null http://purl.obolibrary.org/obo/CLO_0014900 node GO_0060279 positive regulation of ovulation null http://purl.obolibrary.org/obo/GO_0060279 node MONDO_0037938 inborn disorder of aspartate family metabolism null http://purl.obolibrary.org/obo/MONDO_0037938 node MONDO_0002927 spindle cell sarcoma null http://purl.obolibrary.org/obo/MONDO_0002927 node MONDO_0010953 Fanconi anemia complementation group E null http://purl.obolibrary.org/obo/MONDO_0010953 node HP_0011276 Vascular skin abnormality null http://purl.obolibrary.org/obo/HP_0011276 node MONDO_0012676 autosomal recessive osteopetrosis 4 null http://purl.obolibrary.org/obo/MONDO_0012676 node EFO_0010098 stress-related disorder null http://www.ebi.ac.uk/efo/EFO_0010098 node EFO_0007397 nocardiosis null http://www.ebi.ac.uk/efo/EFO_0007397 node PATO_0000384 male null http://purl.obolibrary.org/obo/PATO_0000384 node MONDO_0032688 polymicrogyria with or without vascular-type ehlers-danlos syndrome null http://purl.obolibrary.org/obo/MONDO_0032688 node CHEBI_9629 tomatidine null http://purl.obolibrary.org/obo/CHEBI_9629 node EFO_0007960 organochlorine pesticide measurement null http://www.ebi.ac.uk/efo/EFO_0007960 node CHEBI_50694 minocycline null http://purl.obolibrary.org/obo/CHEBI_50694 node EFO_0006375 COLO 741 null http://www.ebi.ac.uk/efo/EFO_0006375 node Orphanet_90368 Hypotrichosis simplex of the scalp null http://www.orpha.net/ORDO/Orphanet_90368 node MONDO_0060642 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features null http://purl.obolibrary.org/obo/MONDO_0060642 node EFO_0006856 leucine-induced hypoglycemia null http://www.ebi.ac.uk/efo/EFO_0006856 node Orphanet_1485 Arthrogryposis - hyperkeratosis, lethal form null http://www.orpha.net/ORDO/Orphanet_1485 node CLO_0015115 GM17121 null http://purl.obolibrary.org/obo/CLO_0015115 node EFO_0001795 in preparation null http://www.ebi.ac.uk/efo/EFO_0001795 node CHEBI_38559 cytochrome P450 null http://purl.obolibrary.org/obo/CHEBI_38559 node HP_0030833 Neck pain null http://purl.obolibrary.org/obo/HP_0030833 node CHEBI_5457 glycerophosphoglycerol null http://purl.obolibrary.org/obo/CHEBI_5457 node EFO_1001892 generalized anxiety disorder null http://www.ebi.ac.uk/efo/EFO_1001892 node Orphanet_2045 FLOTCH syndrome null http://www.orpha.net/ORDO/Orphanet_2045 node EFO_0010186 single cell library information null http://www.ebi.ac.uk/efo/EFO_0010186 node EFO_0010205 cell barcode size null http://www.ebi.ac.uk/efo/EFO_0010205 node EFO_0007485 silicosis null http://www.ebi.ac.uk/efo/EFO_0007485 node CL_0000084 T cell null http://purl.obolibrary.org/obo/CL_0000084 node CHEBI_5931 insulin null http://purl.obolibrary.org/obo/CHEBI_5931 node EFO_0006463 ovarian teratoma null http://www.ebi.ac.uk/efo/EFO_0006463 node CHEBI_35595 isoxazole null http://purl.obolibrary.org/obo/CHEBI_35595 node EFO_0006300 Swiss3 null http://www.ebi.ac.uk/efo/EFO_0006300 node CHEBI_33697 RNA null http://purl.obolibrary.org/obo/CHEBI_33697 node MONDO_0030064 episodic ataxia, type 9 null http://purl.obolibrary.org/obo/MONDO_0030064 node UBERON_0000074 renal glomerulus null http://purl.obolibrary.org/obo/UBERON_0000074 node NCBITaxon_53346 Enterococcus mundtii null http://purl.obolibrary.org/obo/NCBITaxon_53346 node EFO_1001980 Alpha-methylacyl-CoA racemase deficiency null http://www.ebi.ac.uk/efo/EFO_1001980 node MONDO_0012132 colorectal cancer, susceptibility to, 1 null http://purl.obolibrary.org/obo/MONDO_0012132 node EFO_0004007 recombinant congenic strain null http://www.ebi.ac.uk/efo/EFO_0004007 node EFO_0009266 refractory celiac disease null http://www.ebi.ac.uk/efo/EFO_0009266 node Orphanet_2133 Hemoglobin E disease null http://www.orpha.net/ORDO/Orphanet_2133 node MONDO_0000430 mature T-cell and NK-cell non-Hodgkin lymphoma null http://purl.obolibrary.org/obo/MONDO_0000430 node EFO_0001899 drug role null http://www.ebi.ac.uk/efo/EFO_0001899 node EFO_0001941 blood component null http://www.ebi.ac.uk/efo/EFO_0001941 node Orphanet_52047 Braddock syndrome null http://www.orpha.net/ORDO/Orphanet_52047 node EFO_0009489 cranial nerve palsy null http://www.ebi.ac.uk/efo/EFO_0009489 node EFO_0003664 obsolete_intersegmental vessel null http://www.ebi.ac.uk/efo/EFO_0003664 node MONDO_0000114 cerebelloparenchymal disorder null http://purl.obolibrary.org/obo/MONDO_0000114 node Orphanet_319195 Chondroectodermal dysplasia with night blindness null http://www.orpha.net/ORDO/Orphanet_319195 node EFO_0003477 obsolete_median fin fold null http://www.ebi.ac.uk/efo/EFO_0003477 node MONDO_0032924 ciliary dyskinesia, primary, 45 null http://purl.obolibrary.org/obo/MONDO_0032924 node HP_0001344 Absent speech This term should not be used in very young children. http://purl.obolibrary.org/obo/HP_0001344 node EFO_0008427 IgG fucosylation measurement null http://www.ebi.ac.uk/efo/EFO_0008427 node Orphanet_101022 Mediterranean macrothrombocytopenia null http://www.orpha.net/ORDO/Orphanet_101022 node MONDO_0003714 bladder urachal squamous cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0003714 node Orphanet_750 Pseudoachondroplasia null http://www.orpha.net/ORDO/Orphanet_750 node Orphanet_276267 Xeroderma pigmentosum complementation group G placement based on OMIM phenotypic series 214150. http://www.orpha.net/ORDO/Orphanet_276267 node EFO_0001987 obsolete_cerebral peduncle null http://www.ebi.ac.uk/efo/EFO_0001987 node HP_0001742 Nasal obstruction null http://purl.obolibrary.org/obo/HP_0001742 node HP_0000771 Gynecomastia null http://purl.obolibrary.org/obo/HP_0000771 node MONDO_0002058 breast adenoma null http://purl.obolibrary.org/obo/MONDO_0002058 node CLO_0026786 GM15386 null http://purl.obolibrary.org/obo/CLO_0026786 node EFO_0009577 orthopedic nursing null http://www.ebi.ac.uk/efo/EFO_0009577 node Orphanet_3011 Spastic tetraplegia - retinitis pigmentosa - intellectual disability null http://www.orpha.net/ORDO/Orphanet_3011 node EFO_1000062 lactose intolerance null http://www.ebi.ac.uk/efo/EFO_1000062 node Orphanet_93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy null http://www.orpha.net/ORDO/Orphanet_93458 node EFO_0003565 obsolete_somite 2 null http://www.ebi.ac.uk/efo/EFO_0003565 node MONDO_0000015 classic complement early component deficiency null http://purl.obolibrary.org/obo/MONDO_0000015 node MONDO_0014528 chronic atrial and intestinal dysrhythmia null http://purl.obolibrary.org/obo/MONDO_0014528 node Orphanet_1979 Lipodystrophy due to peptidic growth factors deficiency null http://www.orpha.net/ORDO/Orphanet_1979 node UBERON_0001928 preoptic area null http://purl.obolibrary.org/obo/UBERON_0001928 node EFO_1000460 Parotid Gland Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000460 node UBERON_0001374 biceps femoris null http://purl.obolibrary.org/obo/UBERON_0001374 node GO_0051716 cellular response to stimulus Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0051716 node HP_0001830 Postaxial foot polydactyly The modifier postaxial means that the supernumerary digit is not a hallux. http://purl.obolibrary.org/obo/HP_0001830 node EFO_0001404 seminiferous tubules null http://www.ebi.ac.uk/efo/EFO_0001404 node Orphanet_99095 Gerbode defect null http://www.orpha.net/ORDO/Orphanet_99095 node EFO_1000625 Warthin Tumor null http://www.ebi.ac.uk/efo/EFO_1000625 node NCBITaxon_29883 Laccaria bicolor null http://purl.obolibrary.org/obo/NCBITaxon_29883 node EFO_0002144 CORL88 null http://www.ebi.ac.uk/efo/EFO_0002144 node MONDO_0004359 delusional disorder null http://purl.obolibrary.org/obo/MONDO_0004359 node EFO_0008021 alpha-2-macroglobulin receptor-associated protein measurement null http://www.ebi.ac.uk/efo/EFO_0008021 node EFO_0009900 10X 5' v2 sequencing null http://www.ebi.ac.uk/efo/EFO_0009900 node Orphanet_295091 Congenital absence of thigh and lower leg with foot present, bilateral null http://www.orpha.net/ORDO/Orphanet_295091 node Orphanet_3344 Weismann-Netter syndrome null http://www.orpha.net/ORDO/Orphanet_3344 node Orphanet_217340 17q21.31 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_217340 node EFO_0009723 job satisfaction measurement null http://www.ebi.ac.uk/efo/EFO_0009723 node HP_0012873 Absent vas deferens null http://purl.obolibrary.org/obo/HP_0012873 node UBERON_0001756 middle ear null http://purl.obolibrary.org/obo/UBERON_0001756 node EFO_1000232 Endometrial Cyst null http://www.ebi.ac.uk/efo/EFO_1000232 node CHEBI_26536 retinoic acid null http://purl.obolibrary.org/obo/CHEBI_26536 node EFO_1000713 hypopigmentation of eyelid null http://www.ebi.ac.uk/efo/EFO_1000713 node EFO_0003735 obsolete_lung (Rattus rattus) null http://www.ebi.ac.uk/efo/EFO_0003735 node EFO_0002232 MEG01 null http://www.ebi.ac.uk/efo/EFO_0002232 node EFO_0001305 larval day 5 null http://www.ebi.ac.uk/efo/EFO_0001305 node EFO_1000526 Simple Endometrial Hyperplasia with Atypia null http://www.ebi.ac.uk/efo/EFO_1000526 node EFO_1000349 Malignant Bladder Paraganglioma null http://www.ebi.ac.uk/efo/EFO_1000349 node Orphanet_228390 Frontonasal dysplasia with alopecia and genital anomaly null http://www.orpha.net/ORDO/Orphanet_228390 node EFO_1000934 eyelid neoplasm null http://www.ebi.ac.uk/efo/EFO_1000934 node Orphanet_171622 Autosomal recessive spastic paraplegia type 32 null http://www.orpha.net/ORDO/Orphanet_171622 node EFO_0009811 tag based single nucleus RNA sequencing null http://www.ebi.ac.uk/efo/EFO_0009811 node CHEBI_30921 glutarate(2-) null http://purl.obolibrary.org/obo/CHEBI_30921 node Orphanet_1307 Distal limb deficiencies - micrognathia syndrome null http://www.orpha.net/ORDO/Orphanet_1307 node EFO_1000320 Laryngeal Small Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000320 node FBbt_00001069 embryonic stomatogastric nervous system null http://purl.obolibrary.org/obo/FBbt_00001069 node MONDO_0003537 precursor T-lymphoblastic lymphoma/leukemia null http://purl.obolibrary.org/obo/MONDO_0003537 node EFO_0002320 RL952 null http://www.ebi.ac.uk/efo/EFO_0002320 node EFO_0010773 CD5 measurement null http://www.ebi.ac.uk/efo/EFO_0010773 node Orphanet_96179 Maternal uniparental disomy of chromosome 2 null http://www.orpha.net/ORDO/Orphanet_96179 node Orphanet_228329 CLN1 disease null http://www.orpha.net/ORDO/Orphanet_228329 node EFO_0003082 COLO205 null http://www.ebi.ac.uk/efo/EFO_0003082 node EFO_0010008 irCLIP null http://www.ebi.ac.uk/efo/EFO_0010008 node UBERON_0004647 liver lobule null http://purl.obolibrary.org/obo/UBERON_0004647 node Orphanet_3315 Thiopurine S-methyltransferase deficiency null http://www.orpha.net/ORDO/Orphanet_3315 node MONDO_0000594 pervasive developmental disorder null http://purl.obolibrary.org/obo/MONDO_0000594 node EFO_0000391 damage intensity null http://www.ebi.ac.uk/efo/EFO_0000391 node EFO_1001072 opportunistic Moraxellaceae infectious disease null http://www.ebi.ac.uk/efo/EFO_1001072 node Orphanet_2135 Hennekam-Beemer syndrome null http://www.orpha.net/ORDO/Orphanet_2135 node EFO_0010861 HG03039 null http://www.ebi.ac.uk/efo/EFO_0010861 node UBERON_2000083 ventral mesoderm null http://purl.obolibrary.org/obo/UBERON_2000083 node EFO_0000235 obsolete_adipose tissue MMHCC null http://www.ebi.ac.uk/efo/EFO_0000235 node PATO_0000461 normal null http://purl.obolibrary.org/obo/PATO_0000461 node EFO_0005346 GM13977 null http://www.ebi.ac.uk/efo/EFO_0005346 node MONDO_0018796 isolated constitutional thrombocytopenia null http://purl.obolibrary.org/obo/MONDO_0018796 node MONDO_0100213 IFAP syndrome with or without BRESHECK syndrome null http://purl.obolibrary.org/obo/MONDO_0100213 node Orphanet_352654 Early-onset progressive neurodegeneration - blindness - ataxia - spasticity null http://www.orpha.net/ORDO/Orphanet_352654 node EFO_0007088 HUES63 null http://www.ebi.ac.uk/efo/EFO_0007088 node EFO_0008977 TruePrime null http://www.ebi.ac.uk/efo/EFO_0008977 node PO_0025121 pollen sperm cell Pollen sperm cells are structurally simple, usually non-motile cells that may contain a normal complement of cellular organelles, including heritable cytoplasmic organelles such as mitochondria and, in some plants, plastids, but lack a cell wall. In seed plants, pollen sperm cells are usually two in number. In angiosperms, during double fertilization, one fuses with the plant egg cell (PO:0020094) to produce a plant zygote (PO:0000423) while another fuses with the two polar nuclei of the embryo sac central cell (PO:0020090) to give rise to endosperm (PO:0009089). In angiosperms, the pollen sperm cell arises from the generative cell (PO:0020097). In gymnosperms, the pollen sperm cell arises from the body cell (PO:0025525). http://purl.obolibrary.org/obo/PO_0025121 node MONDO_0021128 has an isolated presentation null http://purl.obolibrary.org/obo/MONDO_0021128 node UBERON_0003069 otic placode null http://purl.obolibrary.org/obo/UBERON_0003069 node EFO_1002002 high altitude pulmonary edema null http://www.ebi.ac.uk/efo/EFO_1002002 node CHEBI_27568 selenium null http://purl.obolibrary.org/obo/CHEBI_27568 node HP_0009763 Limb pain null http://purl.obolibrary.org/obo/HP_0009763 node Orphanet_404568 Dysostosis of genetic origin null http://www.orpha.net/ORDO/Orphanet_404568 node ZFA_0001389 regeneration epithelium null http://purl.obolibrary.org/obo/ZFA_0001389 node EFO_0005434 array control buffer null http://www.ebi.ac.uk/efo/EFO_0005434 node EFO_0001299 hatching pec-fin null http://www.ebi.ac.uk/efo/EFO_0001299 node EFO_0000080 CS57735 null http://www.ebi.ac.uk/efo/EFO_0000080 node NCBITaxon_1597 Lactobacillus paracasei null http://purl.obolibrary.org/obo/NCBITaxon_1597 node NCBITaxon_777 Coxiella burnetii null http://purl.obolibrary.org/obo/NCBITaxon_777 node MONDO_0002463 lacrimal gland carcinoma null http://purl.obolibrary.org/obo/MONDO_0002463 node EFO_0001960 obsolete_lateral root null http://www.ebi.ac.uk/efo/EFO_0001960 node Orphanet_2499 Metachondromatosis null http://www.orpha.net/ORDO/Orphanet_2499 node EFO_0008878 restriction-site associated DNA sequencing null http://www.ebi.ac.uk/efo/EFO_0008878 node MONDO_0044001 hearing loss, mixed conductive-sensorineural null http://purl.obolibrary.org/obo/MONDO_0044001 node EFO_0007399 ocular toxoplasmosis null http://www.ebi.ac.uk/efo/EFO_0007399 node PO_0000256 root hair null http://purl.obolibrary.org/obo/PO_0000256 node EFO_0001387 obsolete_submandibular gland null http://www.ebi.ac.uk/efo/EFO_0001387 node Orphanet_329813 Mosaic genome-wide paternal uniparental disomy null http://www.orpha.net/ORDO/Orphanet_329813 node MONDO_0002070 ventricular septal defect (disease) null http://purl.obolibrary.org/obo/MONDO_0002070 node EFO_0006717 OUMS-23 null http://www.ebi.ac.uk/efo/EFO_0006717 node UBERON_0003215 alveolus null http://purl.obolibrary.org/obo/UBERON_0003215 node UO_0000012 kelvin null http://purl.obolibrary.org/obo/UO_0000012 node FBbt_00005664 embryonic central brain surface glia null http://purl.obolibrary.org/obo/FBbt_00005664 node HP_0025234 Parasomnia null http://purl.obolibrary.org/obo/HP_0025234 node EFO_0008273 repulsive guidance molecule A measurement null http://www.ebi.ac.uk/efo/EFO_0008273 node Orphanet_98648 Musculoskeletal disease with cataract null http://www.orpha.net/ORDO/Orphanet_98648 node EFO_0008086 CMRF35-like molecule 6 measurement null http://www.ebi.ac.uk/efo/EFO_0008086 node EFO_0007732 C57BL/6NJ null http://www.ebi.ac.uk/efo/EFO_0007732 node EFO_0006805 word list delayed recall measurement null http://www.ebi.ac.uk/efo/EFO_0006805 node Orphanet_363981 Charcot-Marie-Tooth disease type 4B3 null http://www.orpha.net/ORDO/Orphanet_363981 node FBbt_00017011 primary segmental branch primordium null http://purl.obolibrary.org/obo/FBbt_00017011 node EFO_0007545 West Nile encephalitis null http://www.ebi.ac.uk/efo/EFO_0007545 node EFO_0006618 KMS-28PE null http://www.ebi.ac.uk/efo/EFO_0006618 node EFO_0009268 family history of Alzheimer’s disease null http://www.ebi.ac.uk/efo/EFO_0009268 node EFO_0010488 glycerol-3-phosphate measurement null http://www.ebi.ac.uk/efo/EFO_0010488 node Orphanet_1875 Congenital muscular dystrophy - infantile cataract - hypogonadism null http://www.orpha.net/ORDO/Orphanet_1875 node HP_0000164 Abnormality of the dentition Any abnormality of the primary (deciduous) or permanent teeth. http://purl.obolibrary.org/obo/HP_0000164 node EFO_0008174 interleukin 17 measurement null http://www.ebi.ac.uk/efo/EFO_0008174 node HP_0100550 Tendon rupture Tendon rupture is usually painful,and accompanied by swelling, inability to move, and bunching up of the muscle normally attached to the tendon. http://purl.obolibrary.org/obo/HP_0100550 node EFO_1000479 Placental Choriocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000479 node UBERON_0000023 wing null http://purl.obolibrary.org/obo/UBERON_0000023 node EFO_0007633 response to thioamide null http://www.ebi.ac.uk/efo/EFO_0007633 node CHEBI_49798 tetraethylenepentamine null http://purl.obolibrary.org/obo/CHEBI_49798 node EFO_0010576 liver fibrosis measurement null http://www.ebi.ac.uk/efo/EFO_0010576 node Orphanet_189 Hidrotic ectodermal dysplasia null http://www.orpha.net/ORDO/Orphanet_189 node EFO_0003338 obsolete_embryonic optic lobe primordium null http://www.ebi.ac.uk/efo/EFO_0003338 node EFO_0002572 large adipocyte null http://www.ebi.ac.uk/efo/EFO_0002572 node EFO_0001091 BL41K3 null http://www.ebi.ac.uk/efo/EFO_0001091 node NCBITaxon_10519 Human adenovirus 7 null http://purl.obolibrary.org/obo/NCBITaxon_10519 node NCBITaxon_65951 Rorippa amphibia null http://purl.obolibrary.org/obo/NCBITaxon_65951 node HP_0000252 Microcephaly Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. http://purl.obolibrary.org/obo/HP_0000252 node MONDO_0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome null http://purl.obolibrary.org/obo/MONDO_0018681 node Orphanet_99741 King-Denborough syndrome null http://www.orpha.net/ORDO/Orphanet_99741 node Orphanet_209341 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures null http://www.orpha.net/ORDO/Orphanet_209341 node UBERON_0002469 esophagus mucosa null http://purl.obolibrary.org/obo/UBERON_0002469 node EFO_0009438 number of pregnancies measurement null http://www.ebi.ac.uk/efo/EFO_0009438 node EFO_0009919 SPLiT-seq null http://www.ebi.ac.uk/efo/EFO_0009919 node EFO_0004530 triglyceride measurement null http://www.ebi.ac.uk/efo/EFO_0004530 node EFO_0008660 BRIC-seq null http://www.ebi.ac.uk/efo/EFO_0008660 node HP_0002373 Febrile seizure (within the age range of 3 months to 6 years) Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. http://purl.obolibrary.org/obo/HP_0002373 node NCBITaxon_95486 Burkholderia cenocepacia null http://purl.obolibrary.org/obo/NCBITaxon_95486 node MONDO_0003804 blood protein disease null http://purl.obolibrary.org/obo/MONDO_0003804 node EFO_0003426 obsolete_axial chorda mesoderm null http://www.ebi.ac.uk/efo/EFO_0003426 node HP_0002196 Myelopathy null http://purl.obolibrary.org/obo/HP_0002196 node Orphanet_27 Vitamin B12-unresponsive methylmalonic acidemia null http://www.orpha.net/ORDO/Orphanet_27 node NCBITaxon_32630 synthetic construct null http://purl.obolibrary.org/obo/NCBITaxon_32630 node Orphanet_181393 Growth hormone insensitivity syndrome null http://www.orpha.net/ORDO/Orphanet_181393 node HP_0001106 Periorbital hyperpigmentation null http://purl.obolibrary.org/obo/HP_0001106 node EFO_0003168 obsolete_Hawaiian null http://www.ebi.ac.uk/efo/EFO_0003168 node EFO_0009526 foreign body in gastrointestinal tract null http://www.ebi.ac.uk/efo/EFO_0009526 node MONDO_0016637 thrombotic disorder due to an acquired platelet anomaly null http://purl.obolibrary.org/obo/MONDO_0016637 node Orphanet_308 Unverricht-Lundborg disease null http://www.orpha.net/ORDO/Orphanet_308 node Orphanet_262977 Partial trisomy of the long arm of chromosome 18 null http://www.orpha.net/ORDO/Orphanet_262977 node CHEBI_24040 flavin adenine dinucleotide null http://purl.obolibrary.org/obo/CHEBI_24040 node EFO_0009339 Herpes simplex virus 2 seropositivity null http://www.ebi.ac.uk/efo/EFO_0009339 node EFO_0006799 Lewy body dementia measurement null http://www.ebi.ac.uk/efo/EFO_0006799 node EFO_0003514 obsolete_opercle null http://www.ebi.ac.uk/efo/EFO_0003514 node UBERON_0003882 CA2 field of hippocampus null http://purl.obolibrary.org/obo/UBERON_0003882 node EFO_0004441 AB SOLiD 4hq System null http://www.ebi.ac.uk/efo/EFO_0004441 node EFO_0004254 membranous glomerulonephritis null http://www.ebi.ac.uk/efo/EFO_0004254 node HP_0001007 Hirsutism null http://purl.obolibrary.org/obo/HP_0001007 node EFO_1001477 Systemic capillary leak syndrome null http://www.ebi.ac.uk/efo/EFO_1001477 node Orphanet_1698 Mosaic trisomy 12 null http://www.orpha.net/ORDO/Orphanet_1698 node EFO_1001958 high grade ovarian serous adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1001958 node MONDO_0041825 bacterial meningitis caused by gram-negative bacteria null http://purl.obolibrary.org/obo/MONDO_0041825 node EFO_0010071 cardiac troponin I measurement null http://www.ebi.ac.uk/efo/EFO_0010071 node EFO_0001140 GM12155 null http://www.ebi.ac.uk/efo/EFO_0001140 node EFO_0010399 triacylglycerol 44:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010399 node MONDO_0002482 nipple neoplasm null http://purl.obolibrary.org/obo/MONDO_0002482 node UBERON_0001224 renal pelvis In this ontology, the renal pelvis is represented as the area of part-overlap between the kidney and the ureter http://purl.obolibrary.org/obo/UBERON_0001224 node UO_0000198 milliliter per kilogram null http://purl.obolibrary.org/obo/UO_0000198 node Orphanet_98995 Zonular cataract null http://www.orpha.net/ORDO/Orphanet_98995 node Orphanet_140989 Primary central nervous system vasculitis null http://www.orpha.net/ORDO/Orphanet_140989 node UBERON_0001037 strand of hair null http://purl.obolibrary.org/obo/UBERON_0001037 node MONDO_0021024 malaria, susceptibility to null http://purl.obolibrary.org/obo/MONDO_0021024 node MONDO_0016123 muscular tumor Editor note: TODO fix. This class is sourced from ORDO, which classifies it as acquired skeletal muscle disease, but not as a tumor. This is unusual, as there is nothing in its name to suggest it is inherently acquired. http://purl.obolibrary.org/obo/MONDO_0016123 node MONDO_0017050 intraocular medulloepithelioma null http://purl.obolibrary.org/obo/MONDO_0017050 node CHEBI_29693 thiostrepton null http://purl.obolibrary.org/obo/CHEBI_29693 node Orphanet_2763 Osteocraniostenosis null http://www.orpha.net/ORDO/Orphanet_2763 node CHEBI_82750 cholesteryl stearate null http://purl.obolibrary.org/obo/CHEBI_82750 node CHEBI_3614 chlorhexidine null http://purl.obolibrary.org/obo/CHEBI_3614 node Orphanet_172976 Congenital myopathy with cores null http://www.orpha.net/ORDO/Orphanet_172976 node EO_0007162 continuous light regimen null http://purl.obolibrary.org/obo/EO_0007162 node EFO_0001651 precursor null http://www.ebi.ac.uk/efo/EFO_0001651 node EFO_0010722 ophthalmic procedure null http://www.ebi.ac.uk/efo/EFO_0010722 node NCBITaxon_6687 Penaeus monodon null http://purl.obolibrary.org/obo/NCBITaxon_6687 node CHEBI_50733 nutraceutical null http://purl.obolibrary.org/obo/CHEBI_50733 node MONDO_0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease null http://purl.obolibrary.org/obo/MONDO_0060583 node MONDO_0021510 benign neoplasm of prostate null http://purl.obolibrary.org/obo/MONDO_0021510 node NCBITaxon_5665 Leishmania mexicana null http://purl.obolibrary.org/obo/NCBITaxon_5665 node UBERON_0005499 rhombomere 1 null http://purl.obolibrary.org/obo/UBERON_0005499 node NCBITaxon_556 Erwinia chrysanthemi null http://purl.obolibrary.org/obo/NCBITaxon_556 node EFO_0006581 HGC-27 null http://www.ebi.ac.uk/efo/EFO_0006581 node EFO_0010810 protein intake measurement null http://www.ebi.ac.uk/efo/EFO_0010810 node Orphanet_79502 Punctate palmoplantar keratoderma type 2 null http://www.orpha.net/ORDO/Orphanet_79502 node CL_0002453 oligodendrocyte precursor cell null http://purl.obolibrary.org/obo/CL_0002453 node UBERON_2005039 anterior lateral mesoderm null http://purl.obolibrary.org/obo/UBERON_2005039 node EFO_0005108 arm span null http://www.ebi.ac.uk/efo/EFO_0005108 node MONDO_0016690 pleomorphic xanthoastrocytoma null http://purl.obolibrary.org/obo/MONDO_0016690 node EFO_1000491 Primary Effusion Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000491 node MONDO_0019479 histiocytic sarcoma null http://purl.obolibrary.org/obo/MONDO_0019479 node NCBITaxon_33208 Metazoa null http://purl.obolibrary.org/obo/NCBITaxon_33208 node CHEBI_50223 (+)-dexrazoxane null http://purl.obolibrary.org/obo/CHEBI_50223 node MONDO_0004681 learning disability null http://purl.obolibrary.org/obo/MONDO_0004681 node EFO_0006492 SU-DHL-4 null http://www.ebi.ac.uk/efo/EFO_0006492 node EFO_0001938 obsolete_quadricep muscle null http://www.ebi.ac.uk/efo/EFO_0001938 node EFO_0009715 wheezing null http://www.ebi.ac.uk/efo/EFO_0009715 node MONDO_0002009 major depressive disorder null http://purl.obolibrary.org/obo/MONDO_0002009 node EFO_0002175 EFM19 null http://www.ebi.ac.uk/efo/EFO_0002175 node EFO_0009528 AIDS-related disease null http://www.ebi.ac.uk/efo/EFO_0009528 node NCBITaxon_4876 Glomus intraradices null http://purl.obolibrary.org/obo/NCBITaxon_4876 node EFO_0005019 long poly A RNA null http://www.ebi.ac.uk/efo/EFO_0005019 node Orphanet_397946 Autosomal recessive spastic paraplegia type 58 null http://www.orpha.net/ORDO/Orphanet_397946 node HP_0001281 Tetany null http://purl.obolibrary.org/obo/HP_0001281 node EFO_0007348 louping ill null http://www.ebi.ac.uk/efo/EFO_0007348 node EFO_1000739 neonatal jaundice null http://www.ebi.ac.uk/efo/EFO_1000739 node EFO_0002263 NCI-H1694 null http://www.ebi.ac.uk/efo/EFO_0002263 node NCBITaxon_380737 Drosophila sechellia x Drosophila simulans null http://purl.obolibrary.org/obo/NCBITaxon_380737 node EFO_0001336 CBA/CaJ null http://www.ebi.ac.uk/efo/EFO_0001336 node PO_0025601 staminate inflorescence null http://purl.obolibrary.org/obo/PO_0025601 node NCBITaxon_39291 Athelia rolfsii null http://purl.obolibrary.org/obo/NCBITaxon_39291 node EFO_0009616 finger fracture null http://www.ebi.ac.uk/efo/EFO_0009616 node EFO_0002076 R1 null http://www.ebi.ac.uk/efo/EFO_0002076 node EFO_0002661 dendritic cell-derived intermediate cell null http://www.ebi.ac.uk/efo/EFO_0002661 node MONDO_0001524 globe disease Editor note: Consider merging with parent http://purl.obolibrary.org/obo/MONDO_0001524 node Orphanet_207107 Qualitative or quantitative defects of TRIM32 null http://www.orpha.net/ORDO/Orphanet_207107 node Orphanet_226316 Genetic transient congenital hypothyroidism null http://www.orpha.net/ORDO/Orphanet_226316 node EFO_1001754 Abruptio Placentae null http://www.ebi.ac.uk/efo/EFO_1001754 node EFO_0007249 emphysematous cholecystitis null http://www.ebi.ac.uk/efo/EFO_0007249 node Orphanet_98087 Syndrome with 46,XY disorder of sex development null http://www.orpha.net/ORDO/Orphanet_98087 node Orphanet_137622 Intractable diarrhea - choanal atresia - eye anomalies null http://www.orpha.net/ORDO/Orphanet_137622 node EFO_0000196 metastatic prostate cancer null http://www.ebi.ac.uk/efo/EFO_0000196 node MONDO_0003510 malignant testicular germ cell tumor null http://purl.obolibrary.org/obo/MONDO_0003510 node MONDO_0004897 hypotropia null http://purl.obolibrary.org/obo/MONDO_0004897 node CHEBI_64002 N-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide null http://purl.obolibrary.org/obo/CHEBI_64002 node Orphanet_99818 Turcot syndrome with polyposis null http://www.orpha.net/ORDO/Orphanet_99818 node Orphanet_101112 Spinocerebellar ataxia type 26 null http://www.orpha.net/ORDO/Orphanet_101112 node HP_0001915 Aplastic anemia Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production. http://purl.obolibrary.org/obo/HP_0001915 node Orphanet_228302 Carnitine palmitoyl transferase II deficiency, myopathic form null http://www.orpha.net/ORDO/Orphanet_228302 node MONDO_0007883 lazy leukocyte syndrome null http://purl.obolibrary.org/obo/MONDO_0007883 node EFO_0000079 CS57733 null http://www.ebi.ac.uk/efo/EFO_0000079 node EFO_0006964 Hohenlieth ecotype null http://www.ebi.ac.uk/efo/EFO_0006964 node MONDO_0044974 disease of supramolecular complex null http://purl.obolibrary.org/obo/MONDO_0044974 node Orphanet_3429 Verloove Vanhorick-Brubakk syndrome null http://www.orpha.net/ORDO/Orphanet_3429 node CHEBI_16412 lipopolysaccharide null http://purl.obolibrary.org/obo/CHEBI_16412 node NCBITaxon_9089 Chrysolophus pictus null http://purl.obolibrary.org/obo/NCBITaxon_9089 node EFO_0000487 exposure null http://www.ebi.ac.uk/efo/EFO_0000487 node MONDO_0044787 nasal cavity and paranasal sinus squamous cell carcinoma Editor note: TODO add uberon term http://purl.obolibrary.org/obo/MONDO_0044787 node Orphanet_364571 Dysostosis with limb and face anomalies as a major feature null http://www.orpha.net/ORDO/Orphanet_364571 node Orphanet_1389 Cortical blindness - intellectual disability - polydactyly null http://www.orpha.net/ORDO/Orphanet_1389 node EFO_1001168 scrapie null http://www.ebi.ac.uk/efo/EFO_1001168 node EFO_0009118 female reproductive endometrioid cancer null http://www.ebi.ac.uk/efo/EFO_0009118 node PO_0030004 chloronema Generally, the development of chloronema precedes the development of caulonema. Only the caulonema, and not the chloronema, initiates gametophore buds. http://purl.obolibrary.org/obo/PO_0030004 node CL_0000926 CD4-positive type I NK T cell secreting interferon-gamma null http://purl.obolibrary.org/obo/CL_0000926 node HP_0006571 Reduced number of intrahepatic bile ducts null http://purl.obolibrary.org/obo/HP_0006571 node UBERON_0003119 pharyngeal arch artery 2 null http://purl.obolibrary.org/obo/UBERON_0003119 node EFO_0005718 Ishikawa null http://www.ebi.ac.uk/efo/EFO_0005718 node EFO_0004370 microgram per square centimeter null http://www.ebi.ac.uk/efo/EFO_0004370 node EFO_0003924 hair color null http://www.ebi.ac.uk/efo/EFO_0003924 node EFO_0006770 UM-UC-1 null http://www.ebi.ac.uk/efo/EFO_0006770 node BFO_0000015 process null http://purl.obolibrary.org/obo/BFO_0000015 node MONDO_0018630 hereditary nonpolyposis colon cancer null http://purl.obolibrary.org/obo/MONDO_0018630 node EFO_0004057 CB4932 null http://www.ebi.ac.uk/efo/EFO_0004057 node Orphanet_104003 Congenital intestinal transport defect null http://www.orpha.net/ORDO/Orphanet_104003 node EFO_0000167 CS8581 null http://www.ebi.ac.uk/efo/EFO_0000167 node EFO_0000752 metabolomic profiling null http://www.ebi.ac.uk/efo/EFO_0000752 node Orphanet_1173 Cerebellar ataxia - hypogonadism null http://www.orpha.net/ORDO/Orphanet_1173 node EFO_0001159 GM12872 null http://www.ebi.ac.uk/efo/EFO_0001159 node Orphanet_182043 Rare constitutional hemolytic anemia null http://www.orpha.net/ORDO/Orphanet_182043 node UBERON_0004726 vasa recta null http://purl.obolibrary.org/obo/UBERON_0004726 node EFO_1001256 ACTH Syndrome, Ectopic null http://www.ebi.ac.uk/efo/EFO_1001256 node EFO_0000388 electrical current Formerly class "current milliamperes" http://www.ebi.ac.uk/efo/EFO_0000388 node EFO_0005686 receptive language perception null http://www.ebi.ac.uk/efo/EFO_0005686 node CHEBI_18058 oxamic acid null http://purl.obolibrary.org/obo/CHEBI_18058 node EFO_1001069 ocular hypertension null http://www.ebi.ac.uk/efo/EFO_1001069 node EFO_0003807 interleukin-33 (Rattus norvegicus) null http://www.ebi.ac.uk/efo/EFO_0003807 node EFO_0005499 3-fold embryo Ce null http://www.ebi.ac.uk/efo/EFO_0005499 node EFO_0003117 NCI-H1334 null http://www.ebi.ac.uk/efo/EFO_0003117 node Orphanet_2267 Ichthyosis-cheek-eyebrow syndrome null http://www.orpha.net/ORDO/Orphanet_2267 node Orphanet_1261 Bonnemann-Meinecke-Reich syndrome null http://www.orpha.net/ORDO/Orphanet_1261 node PATO_0001381 triploid null http://purl.obolibrary.org/obo/PATO_0001381 node MONDO_0030073 Mitchell syndrome null http://purl.obolibrary.org/obo/MONDO_0030073 node EFO_0010413 triacylglycerol 52:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010413 node CHEBI_57277 3-(3-hydroxyphenyl)propanoate null http://purl.obolibrary.org/obo/CHEBI_57277 node HP_0012227 Urethral stricture A urethral stricture may result from surgery, disease, or injury. The term should not be used for a congenital narrowing of the urethra (Consider the term Urethral stenosis, HP:0008661). http://purl.obolibrary.org/obo/HP_0012227 node EFO_0007537 vestibular neuronitis null http://www.ebi.ac.uk/efo/EFO_0007537 node UBERON_0000996 vagina null http://purl.obolibrary.org/obo/UBERON_0000996 node Orphanet_93101 Renal hypoplasia null http://www.orpha.net/ORDO/Orphanet_93101 node MONDO_0029146 obsolete Saul-Wilson syndrome null http://purl.obolibrary.org/obo/MONDO_0029146 node MONDO_0002665 extrahepatic bile duct adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0002665 node EFO_0007758 intermittent Staphylococcus aureus carrier status null http://www.ebi.ac.uk/efo/EFO_0007758 node EFO_0010020 AGO HITS-CLIP null http://www.ebi.ac.uk/efo/EFO_0010020 node EFO_0010501 indole-3-propionate measurement null http://www.ebi.ac.uk/efo/EFO_0010501 node MONDO_0045024 cell proliferation disorder null http://purl.obolibrary.org/obo/MONDO_0045024 node MONDO_0001023 prolymphocytic leukemia null http://purl.obolibrary.org/obo/MONDO_0001023 node CL_0002144 capillary endothelial cell null http://purl.obolibrary.org/obo/CL_0002144 node Orphanet_742 Prolidase deficiency null http://www.orpha.net/ORDO/Orphanet_742 node EFO_0008387 caudate nucleus measurement null http://www.ebi.ac.uk/efo/EFO_0008387 node EFO_0007438 Picornaviridae infectious disease null http://www.ebi.ac.uk/efo/EFO_0007438 node Orphanet_2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies null http://www.orpha.net/ORDO/Orphanet_2443 node NCBITaxon_6689 Litopenaeus vannamei null http://purl.obolibrary.org/obo/NCBITaxon_6689 node EFO_0008950 ssRNA-seq null http://www.ebi.ac.uk/efo/EFO_0008950 node EFO_0002896 microRNA profiling by high throughput sequencing null http://www.ebi.ac.uk/efo/EFO_0002896 node EFO_0006919 cardiovascular event measurement null http://www.ebi.ac.uk/efo/EFO_0006919 node MONDO_0002548 cellular schwannoma null http://purl.obolibrary.org/obo/MONDO_0002548 node CHEBI_28125 all-cis-docosa-4,7,10,13,16,19-hexaenoic acid null http://purl.obolibrary.org/obo/CHEBI_28125 node Orphanet_165991 Exercise-induced hyperinsulinism null http://www.orpha.net/ORDO/Orphanet_165991 node EFO_0007220 congenital toxoplasmosis null http://www.ebi.ac.uk/efo/EFO_0007220 node NCBITaxon_4567 Triticum durum null http://purl.obolibrary.org/obo/NCBITaxon_4567 node EFO_0008475 mood instability measurement null http://www.ebi.ac.uk/efo/EFO_0008475 node EFO_0007906 synophrys measurement null http://www.ebi.ac.uk/efo/EFO_0007906 node Orphanet_162 Cataract-glaucoma null http://www.orpha.net/ORDO/Orphanet_162 node Orphanet_643 Giant axonal neuropathy See genetic heterogeneity of OMIM 256850. http://www.orpha.net/ORDO/Orphanet_643 node EFO_0007729 NZO/HlLtJ null http://www.ebi.ac.uk/efo/EFO_0007729 node EFO_0001413 obsolete_gastrocnemius null http://www.ebi.ac.uk/efo/EFO_0001413 node EFO_0008851 PAT-Seq null http://www.ebi.ac.uk/efo/EFO_0008851 node EFO_0000853 obsolete_gall bladder null http://www.ebi.ac.uk/efo/EFO_0000853 node Orphanet_251295 Pigmented paravenous retinochoroidal atrophy null http://www.orpha.net/ORDO/Orphanet_251295 node CHEBI_34687 dibutyl phthalate null http://purl.obolibrary.org/obo/CHEBI_34687 node HP_0000664 Synophrys null http://purl.obolibrary.org/obo/HP_0000664 node HP_0006789 Mitochondrial encephalopathy null http://purl.obolibrary.org/obo/HP_0006789 node SO_0000704 gene null http://purl.obolibrary.org/obo/SO_0000704 node Orphanet_2613 Nail-patella-like renal disease null http://www.orpha.net/ORDO/Orphanet_2613 node Orphanet_371183 Congenital disorder of glycosylation with cardiac malformation as a major feature null http://www.orpha.net/ORDO/Orphanet_371183 node Orphanet_79310 Vitamin B12-responsive methylmalonic acidemia type cblA null http://www.orpha.net/ORDO/Orphanet_79310 node Orphanet_166295 Benign non-familial infantile seizures null http://www.orpha.net/ORDO/Orphanet_166295 node ZFA_0000973 slow muscle cell somite 7 null http://purl.obolibrary.org/obo/ZFA_0000973 node UBERON_0001471 skin of prepuce of penis null http://purl.obolibrary.org/obo/UBERON_0001471 node CHEBI_90297 triacylglycerol 44:1 null http://purl.obolibrary.org/obo/CHEBI_90297 node Orphanet_169139 Transient hypogammaglobulinemia of infancy null http://www.orpha.net/ORDO/Orphanet_169139 node EFO_0000460 obsolete_embryonic gastric caecum null http://www.ebi.ac.uk/efo/EFO_0000460 node EFO_0009683 puerperal disorder null http://www.ebi.ac.uk/efo/EFO_0009683 node HP_0000271 Abnormality of the face null http://purl.obolibrary.org/obo/HP_0000271 node EFO_0000941 obsolete_lateral line system null http://www.ebi.ac.uk/efo/EFO_0000941 node EFO_1001141 pyelonephritis null http://www.ebi.ac.uk/efo/EFO_1001141 node CL_0002402 Peyer's patch B cell null http://purl.obolibrary.org/obo/CL_0002402 node MONDO_0020082 dendritic cell tumor null http://purl.obolibrary.org/obo/MONDO_0020082 node Orphanet_94062 obsolete_Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis null http://www.orpha.net/ORDO/Orphanet_94062 node EFO_1000037 lung carcinoid tumor null http://www.ebi.ac.uk/efo/EFO_1000037 node EFO_0000754 obsolete_re-sequencing null http://www.ebi.ac.uk/efo/EFO_0000754 node EFO_1000518 Salivary Gland Pleomorphic Adenoma null http://www.ebi.ac.uk/efo/EFO_1000518 node EFO_0004467 insulin measurement null http://www.ebi.ac.uk/efo/EFO_0004467 node EFO_0002192 HEC1B null http://www.ebi.ac.uk/efo/EFO_0002192 node EFO_0001746 development or differentiation design null http://www.ebi.ac.uk/efo/EFO_0001746 node EFO_0002569 embryonic day 18 null http://www.ebi.ac.uk/efo/EFO_0002569 node Orphanet_813 Silver-Russell syndrome null http://www.orpha.net/ORDO/Orphanet_813 node Orphanet_79211 Combined hyperlipidemia null http://www.orpha.net/ORDO/Orphanet_79211 node EFO_1000872 commensal Bacteroidaceae infectious disease null http://www.ebi.ac.uk/efo/EFO_1000872 node HP_0000834 Abnormality of the adrenal glands null http://purl.obolibrary.org/obo/HP_0000834 node CHEBI_49603 lapatinib null http://purl.obolibrary.org/obo/CHEBI_49603 node Orphanet_88938 Pseudohypoaldosteronism type 2A null http://www.orpha.net/ORDO/Orphanet_88938 node EFO_0009771 methionine measurement null http://www.ebi.ac.uk/efo/EFO_0009771 node MONDO_0016756 inherited nervous system cancer-predisposing syndrome null http://purl.obolibrary.org/obo/MONDO_0016756 node EFO_0009081 Heterotaxia null http://www.ebi.ac.uk/efo/EFO_0009081 node EFO_0004732 lipoprotein measurement null http://www.ebi.ac.uk/efo/EFO_0004732 node EFO_0004527 mean corpuscular hemoglobin null http://www.ebi.ac.uk/efo/EFO_0004527 node EFO_1000125 Bladder Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000125 node BTO_0002278 macrophage cell line null http://purl.obolibrary.org/obo/BTO_0002278 node Orphanet_3003 Pyknoachondrogenesis null http://www.orpha.net/ORDO/Orphanet_3003 node Orphanet_37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome null http://www.orpha.net/ORDO/Orphanet_37042 node PO_0020148 shoot apical meristem null http://purl.obolibrary.org/obo/PO_0020148 node EFO_1001931 oropharynx cancer null http://www.ebi.ac.uk/efo/EFO_1001931 node EFO_1000960 heartwater disease null http://www.ebi.ac.uk/efo/EFO_1000960 node EFO_0009198 Pulmonary arterial hypertension associated with schistosomiasis null http://www.ebi.ac.uk/efo/EFO_0009198 node EFO_0009400 presubiculum volume null http://www.ebi.ac.uk/efo/EFO_0009400 node CLO_0014330 GM17237 null http://purl.obolibrary.org/obo/CLO_0014330 node CHEBI_53542 nickel chloride hexahydrate null http://purl.obolibrary.org/obo/CHEBI_53542 node NCBITaxon_319701 Streptococcus pyogenes MGAS6180 null http://purl.obolibrary.org/obo/NCBITaxon_319701 node Orphanet_308448 Aminoacylase deficiency null http://www.orpha.net/ORDO/Orphanet_308448 node EFO_1001112 platelet storage pool deficiency null http://www.ebi.ac.uk/efo/EFO_1001112 node NCBITaxon_3505 Betula pendula null http://purl.obolibrary.org/obo/NCBITaxon_3505 node HP_0001662 Bradycardia null http://purl.obolibrary.org/obo/HP_0001662 node EFO_0005542 botulism null http://www.ebi.ac.uk/efo/EFO_0005542 node CHEBI_36080 protein null http://purl.obolibrary.org/obo/CHEBI_36080 node EFO_0004615 apolipoprotein B measurement null http://www.ebi.ac.uk/efo/EFO_0004615 node Orphanet_101997 Primary immunodeficiency null http://www.orpha.net/ORDO/Orphanet_101997 node EFO_0004438 AB SOLiD 4 System null http://www.ebi.ac.uk/efo/EFO_0004438 node MONDO_0009410 Addison disease null http://purl.obolibrary.org/obo/MONDO_0009410 node Orphanet_404538 X-linked distal hereditary motor neuropathy null http://www.orpha.net/ORDO/Orphanet_404538 node Orphanet_164736 Familial advanced sleep-phase syndrome null http://www.orpha.net/ORDO/Orphanet_164736 node FBbt_00005516 embryonic primordium of adult muscle precursor null http://purl.obolibrary.org/obo/FBbt_00005516 node EFO_1001333 Glycogen Storage Disease Type 2b null http://www.ebi.ac.uk/efo/EFO_1001333 node EFO_1001814 nephrogenic fibrosing dermopathy null http://www.ebi.ac.uk/efo/EFO_1001814 node EFO_0005763 pulse pressure measurement null http://www.ebi.ac.uk/efo/EFO_0005763 node EFO_0003001 ILSXISS98/TejJ null http://www.ebi.ac.uk/efo/EFO_0003001 node HP_0004401 Meconium ileus Obstruction of the intestine is known as ileus. http://purl.obolibrary.org/obo/HP_0004401 node EFO_0004836 obsolete_alcohol consumption null http://www.ebi.ac.uk/efo/EFO_0004836 node Orphanet_93336 Polydactyly of a triphalangeal thumb null http://www.orpha.net/ORDO/Orphanet_93336 node CHEBI_53425 polysorbate 60 null http://purl.obolibrary.org/obo/CHEBI_53425 node EFO_0010432 triacylglycerol 56:5 measurement null http://www.ebi.ac.uk/efo/EFO_0010432 node EFO_0010255 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression null http://www.ebi.ac.uk/efo/EFO_0010255 node PO_0004010 meristematic cell null http://purl.obolibrary.org/obo/PO_0004010 node CL_0002396 CD14-low, CD16-positive monocyte Markers are associated with human monocytes. http://purl.obolibrary.org/obo/CL_0002396 node Orphanet_1642 Distal monosomy 9p null http://www.orpha.net/ORDO/Orphanet_1642 node EFO_1001421 Serratia Infections null http://www.ebi.ac.uk/efo/EFO_1001421 node MONDO_0007585 exostoses, multiple, type 1 null http://purl.obolibrary.org/obo/MONDO_0007585 node EFO_0005851 height-adjusted body mass index null http://www.ebi.ac.uk/efo/EFO_0005851 node UBERON_0002530 gland null http://purl.obolibrary.org/obo/UBERON_0002530 node EFO_0004924 obsolete_ataxia telangiectasia null http://www.ebi.ac.uk/efo/EFO_0004924 node CHEBI_28618 1,4-dichlorobenzene null http://purl.obolibrary.org/obo/CHEBI_28618 node EFO_0008566 Illumina NextSeq 550 null http://www.ebi.ac.uk/efo/EFO_0008566 node UBERON_0002148 locus ceruleus null http://purl.obolibrary.org/obo/UBERON_0002148 node EFO_0006772 undifferentiated carcinoma null http://www.ebi.ac.uk/efo/EFO_0006772 node Orphanet_289157 Hypocalcemic vitamin D-dependent rickets null http://www.orpha.net/ORDO/Orphanet_289157 node Orphanet_261841 Partial deletion of chromosome 19 null http://www.orpha.net/ORDO/Orphanet_261841 node BTO_0001033 prostate cancer cell line null http://purl.obolibrary.org/obo/BTO_0001033 node Orphanet_300530 Pseudohypoaldosteronism type 2E null http://www.orpha.net/ORDO/Orphanet_300530 node MONDO_0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome null http://purl.obolibrary.org/obo/MONDO_0044714 node EFO_0008654 Bar-Seq null http://www.ebi.ac.uk/efo/EFO_0008654 node EFO_0006297 Swiss19 null http://www.ebi.ac.uk/efo/EFO_0006297 node EFO_0006860 obsolete_major depressive disorder null http://www.ebi.ac.uk/efo/EFO_0006860 node EFO_0007702 hip bone mineral density null http://www.ebi.ac.uk/efo/EFO_0007702 node EFO_0010906 merkel cell virus seropositivity null http://www.ebi.ac.uk/efo/EFO_0010906 node EFO_0006673 NCI-H2110 null http://www.ebi.ac.uk/efo/EFO_0006673 node MONDO_0019054 congenital limb malformation null http://purl.obolibrary.org/obo/MONDO_0019054 node EFO_0010719 continuous positive airway pressure null http://www.ebi.ac.uk/efo/EFO_0010719 node CL_0000617 GABAergic neuron null http://purl.obolibrary.org/obo/CL_0000617 node EFO_0005409 fat body mass null http://www.ebi.ac.uk/efo/EFO_0005409 node Orphanet_98657 Genetic vitreous-retinal disease null http://www.orpha.net/ORDO/Orphanet_98657 node EFO_0008078 CD27 antigen measurement null http://www.ebi.ac.uk/efo/EFO_0008078 node Orphanet_98586 Pigmented palpebral tumor null http://www.orpha.net/ORDO/Orphanet_98586 node HP_0011504 Bull's eye maculopathy null http://purl.obolibrary.org/obo/HP_0011504 node UBERON_0000998 seminal vesicle null http://purl.obolibrary.org/obo/UBERON_0000998 node Orphanet_1239 Behr syndrome Editor note: note ORDO obsoleting Behr disease and replaced by the more generic SHON but we retain for gene-speicific form http://www.orpha.net/ORDO/Orphanet_1239 node EFO_0010807 F121-9 null http://www.ebi.ac.uk/efo/EFO_0010807 node UBERON_0007291 presumptive rhombomere 4 null http://purl.obolibrary.org/obo/UBERON_0007291 node Orphanet_309256 Metachromatic leukodystrophy, late infantile form null http://www.orpha.net/ORDO/Orphanet_309256 node EFO_0009270 heel bone mineral density null http://www.ebi.ac.uk/efo/EFO_0009270 node EFO_0002289 NCI-H295R null http://www.ebi.ac.uk/efo/EFO_0002289 node Orphanet_42775 PHACE syndrome null http://www.orpha.net/ORDO/Orphanet_42775 node EFO_0007321 hypopharynx cancer null http://www.ebi.ac.uk/efo/EFO_0007321 node EFO_0008166 obsolete_interleukin 1 beta measurement null http://www.ebi.ac.uk/efo/EFO_0008166 node EFO_0009083 absent or delayed speech development null http://www.ebi.ac.uk/efo/EFO_0009083 node Orphanet_319189 Familial cortical myoclonus null http://www.orpha.net/ORDO/Orphanet_319189 node EFO_1000488 Polar Spongioblastoma null http://www.ebi.ac.uk/efo/EFO_1000488 node Orphanet_97556 Congenital and infantile nephrotic syndrome null http://www.orpha.net/ORDO/Orphanet_97556 node CHEBI_35482 opioid analgesic null http://purl.obolibrary.org/obo/CHEBI_35482 node EFO_0009491 adrenocortical insufficiency null http://www.ebi.ac.uk/efo/EFO_0009491 node EFO_0009950 disease of extraembryonic membrane null http://www.ebi.ac.uk/efo/EFO_0009950 node GO_0032502 developmental process null http://purl.obolibrary.org/obo/GO_0032502 node EFO_0009868 sedation null http://www.ebi.ac.uk/efo/EFO_0009868 node EFO_0007593 chromatid break measurement null http://www.ebi.ac.uk/efo/EFO_0007593 node MONDO_0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies null http://purl.obolibrary.org/obo/MONDO_0032884 node EFO_0008389 putamen measurement null http://www.ebi.ac.uk/efo/EFO_0008389 node CL_0000312 keratinocyte Keratinocytes are reportedly CDw210a-negative, CDw210b-positive, CD281-positive, CD282-positive, CD285-positive, IL22Ra1-positive, Human keratinocytes are reportedly capable of secreting BD-2, BD-3, hCAP-18, CXCL1, CXCL5, CXCL8, elafin, MMP-3, NGAL, PDGF-A, S100A7, S100A8, and S100A9. Transcription factors: STAT3-positive. http://purl.obolibrary.org/obo/CL_0000312 node HP_0000924 Abnormality of the skeletal system null http://purl.obolibrary.org/obo/HP_0000924 node CHEBI_132007 cholesteryl icosapentaenoate null http://purl.obolibrary.org/obo/CHEBI_132007 node EFO_0002377 SW962 null http://www.ebi.ac.uk/efo/EFO_0002377 node NCBITaxon_186842 Mus musculus x Mus spretus null http://purl.obolibrary.org/obo/NCBITaxon_186842 node Orphanet_75377 Central areolar choroidal dystrophy null http://www.orpha.net/ORDO/Orphanet_75377 node Orphanet_289176 Autosomal recessive hypophosphatemic rickets null http://www.orpha.net/ORDO/Orphanet_289176 node EFO_0001991 obsolete_superior frontal gyrus null http://www.ebi.ac.uk/efo/EFO_0001991 node EFO_0009171 blood group--lutheran inhibitor null http://www.ebi.ac.uk/efo/EFO_0009171 node Orphanet_416 Primary hyperoxaluria null http://www.orpha.net/ORDO/Orphanet_416 node Orphanet_69084 Pure hair and nail ectodermal dysplasia null http://www.orpha.net/ORDO/Orphanet_69084 node EFO_1000576 Thymic Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000576 node EFO_0007222 contagious pustular dermatitis null http://www.ebi.ac.uk/efo/EFO_0007222 node MONDO_0042487 uterine cervix carcinoma in situ null http://purl.obolibrary.org/obo/MONDO_0042487 node Orphanet_281210 X-linked ichthyosis syndrome Editor note: check relationship to syndromic recessive X-linked ichthyosis http://www.orpha.net/ORDO/Orphanet_281210 node NCBITaxon_31234 Caenorhabditis remanei null http://purl.obolibrary.org/obo/NCBITaxon_31234 node FBbt_00005610 embryonic proventriculus outer layer null http://purl.obolibrary.org/obo/FBbt_00005610 node CHEBI_64431 phosphatidylcholine 40:6 null http://purl.obolibrary.org/obo/CHEBI_64431 node MONDO_0014671 neuropathy, hereditary motor and sensory, type 6B null http://purl.obolibrary.org/obo/MONDO_0014671 node Orphanet_42062 Iminoglycinuria null http://www.orpha.net/ORDO/Orphanet_42062 node EFO_0003364 obsolete_visceral branch primordium null http://www.ebi.ac.uk/efo/EFO_0003364 node EFO_0002845 PC-6 null http://www.ebi.ac.uk/efo/EFO_0002845 node HP_0100022 Abnormality of movement Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy. http://purl.obolibrary.org/obo/HP_0100022 node Orphanet_86909 Myoclonic epilepsy of infancy null http://www.orpha.net/ORDO/Orphanet_86909 node Orphanet_98130 Autosomal trisomy null http://www.orpha.net/ORDO/Orphanet_98130 node EFO_0003790 hybridization protocol null http://www.ebi.ac.uk/efo/EFO_0003790 node EFO_0003585 obsolete_floor plate neural rod null http://www.ebi.ac.uk/efo/EFO_0003585 node EFO_0002658 protocol parameter null http://www.ebi.ac.uk/efo/EFO_0002658 node Orphanet_246 Postaxial acrofacial dysostosis null http://www.orpha.net/ORDO/Orphanet_246 node EFO_0001221 NCI-H929 null http://www.ebi.ac.uk/efo/EFO_0001221 node EFO_0000052 CS57648 null http://www.ebi.ac.uk/efo/EFO_0000052 node EFO_0001044 obsolete_phloem null http://www.ebi.ac.uk/efo/EFO_0001044 node EFO_1000170 Cervical Mucinous Adenocarcinoma, Villoglandular Variant null http://www.ebi.ac.uk/efo/EFO_1000170 node EFO_0008800 MDA null http://www.ebi.ac.uk/efo/EFO_0008800 node MONDO_0016231 capillary malformation null http://purl.obolibrary.org/obo/MONDO_0016231 node MONDO_0020633 anaplastic cancer null http://purl.obolibrary.org/obo/MONDO_0020633 node UBERON_0003073 lens placode null http://purl.obolibrary.org/obo/UBERON_0003073 node HP_0010313 Breast hypertrophy null http://purl.obolibrary.org/obo/HP_0010313 node EFO_0003673 obsolete_vagal ganglion 4 null http://www.ebi.ac.uk/efo/EFO_0003673 node EFO_0002746 IR (lox/lox) null http://www.ebi.ac.uk/efo/EFO_0002746 node Orphanet_334 Familial atrial fibrillation Editor note: DO def states this as being in ATFB but this is not correct http://www.orpha.net/ORDO/Orphanet_334 node CHEBI_16526 carbon dioxide null http://purl.obolibrary.org/obo/CHEBI_16526 node Orphanet_251262 Familial osteochondritis dissecans null http://www.orpha.net/ORDO/Orphanet_251262 node CHEBI_27385 tetrachloromethane null http://purl.obolibrary.org/obo/CHEBI_27385 node CLO_0013090 GM17285 null http://purl.obolibrary.org/obo/CLO_0013090 node HP_0000426 Prominent nasal bridge A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately. http://purl.obolibrary.org/obo/HP_0000426 node Orphanet_228384 5q14.3 microdeletion syndrome Editor note: ORDO xrefs mental retardation, autosomal dominant 20, check this http://www.orpha.net/ORDO/Orphanet_228384 node EFO_0000140 CS57840 null http://www.ebi.ac.uk/efo/EFO_0000140 node UBERON_0005721 pronephric mesoderm the intermediate mesoderm of the chick embryo acquires its ability to form kidneys through its interactions with the paraxial mesoderm [ISBN:9780878932504 "Developmental Biology", PMID:10720431 "Signals from trunk paraxial mesoderm induce pronephros formation in chick intermediate mesoderm"]. These interactions induce the expression of TFs including Lim1, Pax2 and Pax6 that cause the intermediate mesoderm to form the kidney http://purl.obolibrary.org/obo/UBERON_0005721 node EFO_0001132 GM12043 null http://www.ebi.ac.uk/efo/EFO_0001132 node EFO_0005273 sleep depth null http://www.ebi.ac.uk/efo/EFO_0005273 node EFO_0010889 HG03571 null http://www.ebi.ac.uk/efo/EFO_0010889 node Orphanet_357225 Primary non-essential cutis verticis gyrata null http://www.orpha.net/ORDO/Orphanet_357225 node EFO_0003761 unipolar depression null http://www.ebi.ac.uk/efo/EFO_0003761 node UBERON_2001300 vagal placode 4 null http://purl.obolibrary.org/obo/UBERON_2001300 node HP_0100309 Subdural hemorrhage Usually resulting from tears in veins that cross the subdural space, subdural hemorrhage may cause an increase in intracranial pressure, which can cause compression of and damage to delicate brain tissue. Subdural hematomas are often life-threatening when acute, but chronic subdural hematomas are usually not deadly if treated. http://purl.obolibrary.org/obo/HP_0100309 node NCBITaxon_28450 Burkholderia pseudomallei null http://purl.obolibrary.org/obo/NCBITaxon_28450 node NCBITaxon_9315 Macropus eugenii null http://purl.obolibrary.org/obo/NCBITaxon_9315 node EFO_0000526 obsolete_hemopoietic progenitor cell use EFO_0000527 http://www.ebi.ac.uk/efo/EFO_0000526 node EFO_1001207 systolic heart failure null http://www.ebi.ac.uk/efo/EFO_1001207 node CHEBI_48607 lithium chloride null http://purl.obolibrary.org/obo/CHEBI_48607 node MONDO_0021360 tumor of parathyroid gland null http://purl.obolibrary.org/obo/MONDO_0021360 node NCBITaxon_2711 Citrus sinensis null http://purl.obolibrary.org/obo/NCBITaxon_2711 node EFO_0004158 random RNA-Seq across whole transcriptome null http://www.ebi.ac.uk/efo/EFO_0004158 node MONDO_0000652 integumentary system benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0000652 node CL_0000792 CD4-positive, CD25-positive, alpha-beta regulatory T cell This cell type is compatible with the HIPC Lyoplate markers for 'Treg'. The inclusion of CD127lo in the logical definition is compatible with both human and mouse T cells of this subtype. http://purl.obolibrary.org/obo/CL_0000792 node Orphanet_2097 Grant syndrome null http://www.orpha.net/ORDO/Orphanet_2097 node EFO_0000310 obsolete_calpainopathy null http://www.ebi.ac.uk/efo/EFO_0000310 node CHEBI_30621 diarsenic trioxide null http://purl.obolibrary.org/obo/CHEBI_30621 node MONDO_0011577 myopathy, proximal, and ophthalmoplegia null http://purl.obolibrary.org/obo/MONDO_0011577 node HP_0030052 Inguinal freckling null http://purl.obolibrary.org/obo/HP_0030052 node NCBITaxon_48886 Geospiza scandens null http://purl.obolibrary.org/obo/NCBITaxon_48886 node EFO_0010527 pyridoxate measurement null http://www.ebi.ac.uk/efo/EFO_0010527 node EFO_0006374 COLO 699 null http://www.ebi.ac.uk/efo/EFO_0006374 node CHEBI_44185 methotrexate null http://purl.obolibrary.org/obo/CHEBI_44185 node CL_0000501 granulosa cell null http://purl.obolibrary.org/obo/CL_0000501 node EFO_0004246 mucocutaneous lymph node syndrome null http://www.ebi.ac.uk/efo/EFO_0004246 node MONDO_0021271 villous adenoma of colon null http://purl.obolibrary.org/obo/MONDO_0021271 node EFO_0007092 HUES66 null http://www.ebi.ac.uk/efo/EFO_0007092 node CHEBI_4026 cyclophosphamide hydrate null http://purl.obolibrary.org/obo/CHEBI_4026 node NCBITaxon_34317 Eucalyptus globulus null http://purl.obolibrary.org/obo/NCBITaxon_34317 node Orphanet_280586 Chondrodysplasia with joint dislocations, gPAPP type null http://www.orpha.net/ORDO/Orphanet_280586 node Orphanet_2185 Congenital hydrocephalus null http://www.orpha.net/ORDO/Orphanet_2185 node EFO_0004059 RC301 null http://www.ebi.ac.uk/efo/EFO_0004059 node EFO_0009799 self-reported trait null http://www.ebi.ac.uk/efo/EFO_0009799 node MONDO_0000945 venous insufficiency (disease) null http://purl.obolibrary.org/obo/MONDO_0000945 node PO_0009088 seed coat Used only when not specified more precisely; see testa, tegmen. http://purl.obolibrary.org/obo/PO_0009088 node HP_0011107 Recurrent aphthous stomatitis Recurrent aphthous stomatitis can be classified into three forms, with minor ulcers (over 80% of RAS cases) being less than 1 cm in diameter and self-limiting; major ulcers being over 1 cm in diameter with potential scar formation; and herpetiform ulcers manifesting as recurrent episodes with multiple small ulcers throughout the oral mucosa. http://purl.obolibrary.org/obo/HP_0011107 node Orphanet_158687 Lethal acantholytic epidermolysis bullosa null http://www.orpha.net/ORDO/Orphanet_158687 node EFO_0010615 galanin peptides measurement null http://www.ebi.ac.uk/efo/EFO_0010615 node EFO_0006462 ovarian mucinous adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0006462 node Orphanet_300333 Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome null http://www.orpha.net/ORDO/Orphanet_300333 node UBERON_6000186 embryonic optic lobe primordium null http://purl.obolibrary.org/obo/UBERON_6000186 node MONDO_0003472 lice infestation null http://purl.obolibrary.org/obo/MONDO_0003472 node CLO_0016517 GM17825 null http://purl.obolibrary.org/obo/CLO_0016517 node EFO_0005096 obsolete_abdominal wall null http://www.ebi.ac.uk/efo/EFO_0005096 node EFO_0009887 intrathoracic organ injury null http://www.ebi.ac.uk/efo/EFO_0009887 node MONDO_0003766 thalamic cancer null http://purl.obolibrary.org/obo/MONDO_0003766 node HP_0000391 Thickened helices null http://purl.obolibrary.org/obo/HP_0000391 node GO_0055074 calcium ion homeostasis null http://purl.obolibrary.org/obo/GO_0055074 node EFO_0010017 HTGTS-Rep-seq null http://www.ebi.ac.uk/efo/EFO_0010017 node EFO_0002847 PC-9 null http://www.ebi.ac.uk/efo/EFO_0002847 node EFO_0008243 natural cytotoxicity triggering receptor 3 measurement null http://www.ebi.ac.uk/efo/EFO_0008243 node Orphanet_3250 Proximal symphalangism null http://www.orpha.net/ORDO/Orphanet_3250 node EFO_0006299 Swiss22 null http://www.ebi.ac.uk/efo/EFO_0006299 node MONDO_0024643 myocardial disorder null http://purl.obolibrary.org/obo/MONDO_0024643 node EFO_0001186 HepaRG null http://www.ebi.ac.uk/efo/EFO_0001186 node UBERON_0001684 mandible null http://purl.obolibrary.org/obo/UBERON_0001684 node PO_0007015 radicle emergence null http://purl.obolibrary.org/obo/PO_0007015 node MONDO_0100164 permanent neonatal diabetes mellitus null http://purl.obolibrary.org/obo/MONDO_0100164 node HP_0040187 Neonatal sepsis null http://purl.obolibrary.org/obo/HP_0040187 node Orphanet_90185 Non-hereditary late-onset primary lymphedema null http://www.orpha.net/ORDO/Orphanet_90185 node Orphanet_3471 Young syndrome null http://www.orpha.net/ORDO/Orphanet_3471 node EFO_0008947 sRNA-Seq null http://www.ebi.ac.uk/efo/EFO_0008947 node CHEBI_25255 methyl methanesulfonate null http://purl.obolibrary.org/obo/CHEBI_25255 node EFO_0010105 CD4-positive T-lymphocyte count null http://www.ebi.ac.uk/efo/EFO_0010105 node EFO_0002935 Drosophila melanogaster cell line null http://www.ebi.ac.uk/efo/EFO_0002935 node CHEBI_67249 N-acetylcarnosine null http://purl.obolibrary.org/obo/CHEBI_67249 node Orphanet_293633 PYCR1-related De Barsy syndrome null http://www.orpha.net/ORDO/Orphanet_293633 node EFO_0008331 interleukin 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008331 node Orphanet_2709 Oculodental syndrome, Rutherfurd type null http://www.orpha.net/ORDO/Orphanet_2709 node Orphanet_3449 Weill-Marchesani syndrome null http://www.orpha.net/ORDO/Orphanet_3449 node Orphanet_352712 Facial dysmorphism - immunodeficiency - livedo - short stature null http://www.orpha.net/ORDO/Orphanet_352712 node Orphanet_171844 Blindness-scoliosis-arachnodactyly syndrome null http://www.orpha.net/ORDO/Orphanet_171844 node EFO_0006622 KP-3 null http://www.ebi.ac.uk/efo/EFO_0006622 node CHEBI_9300 suberic acid null http://purl.obolibrary.org/obo/CHEBI_9300 node PO_0025197 stele If a pith is present, it is part of the stele, otherwise the stele only includes the primary vascular tissue and the ground tissue that surrounds it. http://purl.obolibrary.org/obo/PO_0025197 node Orphanet_98946 Coloboma of eyelid null http://www.orpha.net/ORDO/Orphanet_98946 node EFO_0002542 obsolete_islet cell null http://www.ebi.ac.uk/efo/EFO_0002542 node EFO_0006445 huH-1 null http://www.ebi.ac.uk/efo/EFO_0006445 node MONDO_0014386 platelet-type bleeding disorder 18 null http://purl.obolibrary.org/obo/MONDO_0014386 node GO_0044700 single organism signaling null http://purl.obolibrary.org/obo/GO_0044700 node MONDO_0002040 dermatomycosis null http://purl.obolibrary.org/obo/MONDO_0002040 node EFO_1000986 intermediate uveitis null http://www.ebi.ac.uk/efo/EFO_1000986 node Orphanet_93440 Slender bone dysplasia null http://www.orpha.net/ORDO/Orphanet_93440 node EFO_0005755 rheumatic disease This is an umbrella term encompassing conditions causing chronic, often intermittent pain affecting the joints and/or connective tissue http://www.ebi.ac.uk/efo/EFO_0005755 node EFO_0000457 obsolete_embryonic foregut sensory structure null http://www.ebi.ac.uk/efo/EFO_0000457 node EFO_0004828 genetic variation null http://www.ebi.ac.uk/efo/EFO_0004828 node Orphanet_191 Cockayne syndrome null http://www.orpha.net/ORDO/Orphanet_191 node EFO_0000938 sensory bristle null http://www.ebi.ac.uk/efo/EFO_0000938 node EFO_1001138 pulmonary valve stenosis null http://www.ebi.ac.uk/efo/EFO_1001138 node NCBITaxon_272562 Clostridium acetobutylicum ATCC 824 null http://purl.obolibrary.org/obo/NCBITaxon_272562 node HP_0006978 Dysmyelinating leukodystrophy null http://purl.obolibrary.org/obo/HP_0006978 node EFO_0005568 methylmalonic aciduria and homocystinuria type cblE null http://www.ebi.ac.uk/efo/EFO_0005568 node HP_0002508 Brainstem dysplasia null http://purl.obolibrary.org/obo/HP_0002508 node Orphanet_1762 Trisomy Xq28 null http://www.orpha.net/ORDO/Orphanet_1762 node UBERON_2000712 internal yolk syncytial layer null http://purl.obolibrary.org/obo/UBERON_2000712 node EFO_0009032 Combined oxidative phosphorylation defect type 21 null http://www.ebi.ac.uk/efo/EFO_0009032 node MONDO_0033534 combined oxidative phosphorylation deficiency 46 null http://purl.obolibrary.org/obo/MONDO_0033534 node MONDO_0002429 idiopathic interstitial pneumonia null http://purl.obolibrary.org/obo/MONDO_0002429 node UO_0000021 gram null http://purl.obolibrary.org/obo/UO_0000021 node MONDO_0044983 benign lipomatous neoplasm null http://purl.obolibrary.org/obo/MONDO_0044983 node GO_0070085 glycosylation null http://purl.obolibrary.org/obo/GO_0070085 node Orphanet_895 Waardenburg syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_895 node EFO_0000545 infertility Editor note: dubious as to whether this is a disease as defined, check with clingen before obsoleting http://www.ebi.ac.uk/efo/EFO_0000545 node Orphanet_352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement null http://www.orpha.net/ORDO/Orphanet_352309 node EFO_1001226 uremia null http://www.ebi.ac.uk/efo/EFO_1001226 node CL_0000864 tissue-resident macrophage null http://purl.obolibrary.org/obo/CL_0000864 node Orphanet_3156 Senior-Loken syndrome null http://www.orpha.net/ORDO/Orphanet_3156 node EFO_0004729 vitamin measurement null http://www.ebi.ac.uk/efo/EFO_0004729 node HP_0011277 Abnormality of the urinary system physiology null http://purl.obolibrary.org/obo/HP_0011277 node EFO_0009120 biopsy null http://www.ebi.ac.uk/efo/EFO_0009120 node EFO_0010099 chronic widespread pain null http://www.ebi.ac.uk/efo/EFO_0010099 node EFO_0010684 malunion fracture null http://www.ebi.ac.uk/efo/EFO_0010684 node Orphanet_1182 Spastic ataxia with congenital miosis null http://www.orpha.net/ORDO/Orphanet_1182 node EFO_0007961 polybrominated biphenyl measurement null http://www.ebi.ac.uk/efo/EFO_0007961 node EFO_0002068 Kc null http://www.ebi.ac.uk/efo/EFO_0002068 node EFO_1001928 small intestine neuroendocrine tumor null http://www.ebi.ac.uk/efo/EFO_1001928 node HP_0002817 Abnormality of the upper limb null http://purl.obolibrary.org/obo/HP_0002817 node CLO_0014327 GM17239 null http://purl.obolibrary.org/obo/CLO_0014327 node Orphanet_1486 Lethal congenital contracture syndrome type 1 null http://www.orpha.net/ORDO/Orphanet_1486 node EFO_0009341 Helicobacter pylori seropositivity null http://www.ebi.ac.uk/efo/EFO_0009341 node Orphanet_93372 Familial hypocalciuric hypercalcemia type 1 null http://www.orpha.net/ORDO/Orphanet_93372 node EFO_1001314 pseudomembranous enterocolitis null http://www.ebi.ac.uk/efo/EFO_1001314 node CL_0000952 preBCR-positive large pre-B-II cell null http://purl.obolibrary.org/obo/CL_0000952 node Orphanet_295010 Central polydactyly of toes null http://www.orpha.net/ORDO/Orphanet_295010 node Orphanet_217059 Isolated congenital digital clubbing null http://www.orpha.net/ORDO/Orphanet_217059 node EFO_0000390 obsolete_cystic fibrosis null http://www.ebi.ac.uk/efo/EFO_0000390 node Orphanet_1270 Bowen-Conradi syndrome null http://www.orpha.net/ORDO/Orphanet_1270 node EFO_1001071 oophoritis null http://www.ebi.ac.uk/efo/EFO_1001071 node EFO_0010772 CD244 measurement null http://www.ebi.ac.uk/efo/EFO_0010772 node CHEBI_4885 ethionamide null http://purl.obolibrary.org/obo/CHEBI_4885 node EFO_1000530 Skin Cavernous Hemangioma null http://www.ebi.ac.uk/efo/EFO_1000530 node EFO_0010585 cancer antigen 15.3 measurement null http://www.ebi.ac.uk/efo/EFO_0010585 node CLO_0014415 GM17245 null http://purl.obolibrary.org/obo/CLO_0014415 node EFO_0000001 experimental factor Concept naming convention is lower case natural naming with spaces, when necessary captials should be used, for example disease factor, HIV, breast carcinoma, Ewing's sarcoma http://www.ebi.ac.uk/efo/EFO_0000001 node EFO_0005275 dihydroxy docosatrienoic acid measurement null http://www.ebi.ac.uk/efo/EFO_0005275 node EFO_0004323 mental process null http://www.ebi.ac.uk/efo/EFO_0004323 node Orphanet_117573 Syndromic anorectal malformation null http://www.orpha.net/ORDO/Orphanet_117573 node EFO_0005112 gestational age null http://www.ebi.ac.uk/efo/EFO_0005112 node MONDO_0020723 vitamin D-dependent rickets, type 1A null http://purl.obolibrary.org/obo/MONDO_0020723 node Orphanet_79270 Sanfilippo syndrome type B null http://www.orpha.net/ORDO/Orphanet_79270 node Orphanet_280663 Hermansky-Pudlak syndrome type 9 null http://www.orpha.net/ORDO/Orphanet_280663 node Orphanet_137653 Microcephaly - digital anomalies - intellectual disability null http://www.orpha.net/ORDO/Orphanet_137653 node UBERON_0003454 small intestine Peyer's patch null http://purl.obolibrary.org/obo/UBERON_0003454 node EFO_0005158 Ws-2 null http://www.ebi.ac.uk/efo/EFO_0005158 node Orphanet_36 Acrocallosal syndrome null http://www.orpha.net/ORDO/Orphanet_36 node EFO_0006769 UCSD-242l null http://www.ebi.ac.uk/efo/EFO_0006769 node EFO_0004411 Theiler stage 23 null http://www.ebi.ac.uk/efo/EFO_0004411 node CLO_0014901 GM17105 null http://purl.obolibrary.org/obo/CLO_0014901 node EFO_0005200 antiphospholipid antibody measurement null http://www.ebi.ac.uk/efo/EFO_0005200 node CLO_0014034 GM17174 null http://purl.obolibrary.org/obo/CLO_0014034 node Orphanet_79171 Disorder of cobalamin metabolism and transport null http://www.orpha.net/ORDO/Orphanet_79171 node MONDO_0000819 anencephaly null http://purl.obolibrary.org/obo/MONDO_0000819 node EFO_0007855 facial width measurement null http://www.ebi.ac.uk/efo/EFO_0007855 node EFO_0006376 COLO 783 null http://www.ebi.ac.uk/efo/EFO_0006376 node EFO_0009578 placental retention null http://www.ebi.ac.uk/efo/EFO_0009578 node EFO_0006857 cerebral malaria null http://www.ebi.ac.uk/efo/EFO_0006857 node UBERON_0000174 excreta null http://purl.obolibrary.org/obo/UBERON_0000174 node CHEBI_17303 morphine null http://purl.obolibrary.org/obo/CHEBI_17303 node MONDO_0000078 acrocephalopolysyndactyly null http://purl.obolibrary.org/obo/MONDO_0000078 node MONDO_0000601 autoimmune disease of urogenital tract null http://purl.obolibrary.org/obo/MONDO_0000601 node MONDO_0007834 islet cell adenomatosis null http://purl.obolibrary.org/obo/MONDO_0007834 node EFO_1001893 Hand-foot syndrome null http://www.ebi.ac.uk/efo/EFO_1001893 node MONDO_0003064 inverted transitional cell papilloma null http://purl.obolibrary.org/obo/MONDO_0003064 node NCBITaxon_50557 Insecta null http://purl.obolibrary.org/obo/NCBITaxon_50557 node EFO_0006464 obsolete_OVCAR433 null http://www.ebi.ac.uk/efo/EFO_0006464 node CHEBI_131444 guanidinoacetate null http://purl.obolibrary.org/obo/CHEBI_131444 node Orphanet_99096 Multiple ventricular septal defects null http://www.orpha.net/ORDO/Orphanet_99096 node MONDO_0000166 encephalopathy, acute, infection-induced null http://purl.obolibrary.org/obo/MONDO_0000166 node EFO_0006301 Swiss5 null http://www.ebi.ac.uk/efo/EFO_0006301 node Orphanet_90350 Autosomal recessive cutis laxa type 2 null http://www.orpha.net/ORDO/Orphanet_90350 node MONDO_0019724 secondary glomerular disease null http://purl.obolibrary.org/obo/MONDO_0019724 node HP_0012219 Erythema nodosum The nodules of erythema nodosum are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas, and usually subside in 3-6 weeks without scarring or atrophy. http://purl.obolibrary.org/obo/HP_0012219 node EFO_0009901 10X 3' v1 sequencing null http://www.ebi.ac.uk/efo/EFO_0009901 node UBERON_0007288 presumptive forebrain midbrain boundary null http://purl.obolibrary.org/obo/UBERON_0007288 node EFO_0004008 recombinant inbred strain null http://www.ebi.ac.uk/efo/EFO_0004008 node EFO_0009267 delirium null http://www.ebi.ac.uk/efo/EFO_0009267 node Orphanet_227786 Familial flecked retinopathy null http://www.orpha.net/ORDO/Orphanet_227786 node EFO_0008245 neurodevelopmental measurement null http://www.ebi.ac.uk/efo/EFO_0008245 node Orphanet_98156 Gonosome number anomaly null http://www.orpha.net/ORDO/Orphanet_98156 node Orphanet_2772 Congenital osteogenesis imperfecta - microcephaly - cataracts null http://www.orpha.net/ORDO/Orphanet_2772 node EFO_0001942 obsolete_umbilical cord blood null http://www.ebi.ac.uk/efo/EFO_0001942 node EFO_0004580 interleukin 18 (Homo sapiens) null http://www.ebi.ac.uk/efo/EFO_0004580 node HP_0030757 Tooth abscess null http://purl.obolibrary.org/obo/HP_0030757 node HP_0100755 Abnormality of salivation null http://purl.obolibrary.org/obo/HP_0100755 node Orphanet_3433 Microcephaly - brachydactyly - kyphoscoliosis null http://www.orpha.net/ORDO/Orphanet_3433 node EFO_0003478 obsolete_postoptic commissure null http://www.ebi.ac.uk/efo/EFO_0003478 node EFO_0008510 Lyme disease Lyme disease is an infectious disease caused by bacteria of the Borrelia type which is spread by ticks. http://www.ebi.ac.uk/efo/EFO_0008510 node EFO_0008428 IgG sialylation measurement null http://www.ebi.ac.uk/efo/EFO_0008428 node MONDO_0044791 combined hepatocellular carcinoma and cholangiocarcinoma null http://purl.obolibrary.org/obo/MONDO_0044791 node MONDO_0003715 bladder urachal carcinoma null http://purl.obolibrary.org/obo/MONDO_0003715 node EFO_0003886 obsolete_metacarpal bone null http://www.ebi.ac.uk/efo/EFO_0003886 node EFO_0008333 T wave amplitude null http://www.ebi.ac.uk/efo/EFO_0008333 node Orphanet_498 Keratosis pilaris atrophicans null http://www.orpha.net/ORDO/Orphanet_498 node Orphanet_618 Familial melanoma null http://www.orpha.net/ORDO/Orphanet_618 node Orphanet_294949 Joint formation defects null http://www.orpha.net/ORDO/Orphanet_294949 node EFO_1000677 cholesteatoma of external ear null http://www.ebi.ac.uk/efo/EFO_1000677 node CLO_0031531 GM14477 null http://purl.obolibrary.org/obo/CLO_0031531 node HP_0000639 Nystagmus null http://purl.obolibrary.org/obo/HP_0000639 node EFO_0010774 CD6 measurement null http://www.ebi.ac.uk/efo/EFO_0010774 node EFO_0008090 complement C1r subcomponent measurement null http://www.ebi.ac.uk/efo/EFO_0008090 node EFO_0007163 balantidiasis null http://www.ebi.ac.uk/efo/EFO_0007163 node EFO_1000063 lactose intolerance adult type null http://www.ebi.ac.uk/efo/EFO_1000063 node EFO_0003566 obsolete_somite 3 null http://www.ebi.ac.uk/efo/EFO_0003566 node Orphanet_282 Frontotemporal dementia null http://www.orpha.net/ORDO/Orphanet_282 node UBERON_0001446 fibula null http://purl.obolibrary.org/obo/UBERON_0001446 node EFO_1000461 Parotid Gland Carcinoma ex Pleomorphic Adenoma null http://www.ebi.ac.uk/efo/EFO_1000461 node Orphanet_98127 Autosomal anomaly null http://www.orpha.net/ORDO/Orphanet_98127 node Orphanet_90023 Primary immunodeficiency syndrome due to p14 deficiency null http://www.orpha.net/ORDO/Orphanet_90023 node EFO_0004891 callous character null http://www.ebi.ac.uk/efo/EFO_0004891 node Orphanet_586 Cystic fibrosis null http://www.orpha.net/ORDO/Orphanet_586 node HP_0001831 Short toe This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly. http://purl.obolibrary.org/obo/HP_0001831 node EFO_1000284 Granular Cell Tumor Editor note: MESH considers this a myoblastoma but we go with NCIT which states nerve sheath origin, consistent with GARD definition; also check ONCOTREE placement http://www.ebi.ac.uk/efo/EFO_1000284 node Orphanet_399 Huntington disease null http://www.orpha.net/ORDO/Orphanet_399 node EFO_1000765 seborrheic infantile dermatitis null http://www.ebi.ac.uk/efo/EFO_1000765 node EFO_0010381 phosphatidylcholine 36:3 measurement null http://www.ebi.ac.uk/efo/EFO_0010381 node EFO_0003787 cytokine role null http://www.ebi.ac.uk/efo/EFO_0003787 node CHEBI_25017 leucine null http://purl.obolibrary.org/obo/CHEBI_25017 node EFO_0001405 obsolete_back null http://www.ebi.ac.uk/efo/EFO_0001405 node EFO_0000236 obsolete_adipose tissue brown MMHCC null http://www.ebi.ac.uk/efo/EFO_0000236 node EFO_0010862 HG03045 null http://www.ebi.ac.uk/efo/EFO_0010862 node EFO_0007251 endocardial fibroelastosis Editor notes: ORDO classifies as both familial and non-familial http://www.ebi.ac.uk/efo/EFO_0007251 node CHEBI_64516 phosphatidylcholine 34:2 null http://purl.obolibrary.org/obo/CHEBI_64516 node EFO_0002145 CROAP2 null http://www.ebi.ac.uk/efo/EFO_0002145 node EFO_0001218 Met5A null http://www.ebi.ac.uk/efo/EFO_0001218 node EFO_0005347 GM15510 null http://www.ebi.ac.uk/efo/EFO_0005347 node Orphanet_370 Glycogen storage disease due to phosphorylase kinase deficiency null http://www.orpha.net/ORDO/Orphanet_370 node Orphanet_193 Cohen syndrome null http://www.orpha.net/ORDO/Orphanet_193 node EFO_1000372 Meningothelial Meningioma null http://www.ebi.ac.uk/efo/EFO_1000372 node WBls_0000003 embryo Ce null http://purl.obolibrary.org/obo/WBls_0000003 node MONDO_0015405 cerebrofacial arteriovenous metameric syndrome null http://purl.obolibrary.org/obo/MONDO_0015405 node EFO_0009724 health satisfaction measurement null http://www.ebi.ac.uk/efo/EFO_0009724 node HP_0011442 Abnormal central motor function null http://purl.obolibrary.org/obo/HP_0011442 node HP_0010515 Aplasia/Hypoplasia of the thymus null http://purl.obolibrary.org/obo/HP_0010515 node MONDO_0020740 ectodermal dysplasia and immunodeficiency 1 null http://purl.obolibrary.org/obo/MONDO_0020740 node CL_0000162 parietal cell null http://purl.obolibrary.org/obo/CL_0000162 node CHEBI_85533 trans-4-hydroxy-L-proline betaine null http://purl.obolibrary.org/obo/CHEBI_85533 node EFO_0002233 MESSA null http://www.ebi.ac.uk/efo/EFO_0002233 node EFO_0001306 larval day 6 null http://www.ebi.ac.uk/efo/EFO_0001306 node NCBITaxon_955 Wolbachia pipientis null http://purl.obolibrary.org/obo/NCBITaxon_955 node EFO_0000081 CS57737 null http://www.ebi.ac.uk/efo/EFO_0000081 node EFO_0001129 GM12004 null http://www.ebi.ac.uk/efo/EFO_0001129 node EFO_1000935 female genital tuberculosis null http://www.ebi.ac.uk/efo/EFO_1000935 node EFO_0010070 nerve conduction amplitude null http://www.ebi.ac.uk/efo/EFO_0010070 node MONDO_0006596 photoallergic dermatitis null http://purl.obolibrary.org/obo/MONDO_0006596 node OBI_0000049 mass spectrometer null http://purl.obolibrary.org/obo/OBI_0000049 node CHEBI_85754 triacylglycerol 58:8 null http://purl.obolibrary.org/obo/CHEBI_85754 node Orphanet_289829 Disorder of tryptophan metabolism null http://www.orpha.net/ORDO/Orphanet_289829 node EFO_0009812 secondary malignant neoplasm Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. http://www.ebi.ac.uk/efo/EFO_0009812 node Orphanet_248296 Constitutional deficiency anemia null http://www.orpha.net/ORDO/Orphanet_248296 node Orphanet_171436 Typical nemaline myopathy null http://www.orpha.net/ORDO/Orphanet_171436 node Orphanet_1308 C syndrome null http://www.orpha.net/ORDO/Orphanet_1308 node EFO_0005517 RIP-Chip by array null http://www.ebi.ac.uk/efo/EFO_0005517 node CHEBI_64110 4,4',4''-(4-propylpyrazole-1,3,5-triyl)trisphenol null http://purl.obolibrary.org/obo/CHEBI_64110 node CL_0000250 obsolete megaspore replaced_by: PO:0020019 http://purl.obolibrary.org/obo/CL_0000250 node MONDO_0017641 miscellaneous movement disorder due to neurodegenerative disease null http://purl.obolibrary.org/obo/MONDO_0017641 node EFO_0002321 RPMI6666 null http://www.ebi.ac.uk/efo/EFO_0002321 node Orphanet_53696 Lethal arthrogryposis - anterior horn cell disease null http://www.orpha.net/ORDO/Orphanet_53696 node MONDO_0018918 carcinoma of gallbladder and extrahepatic biliary tract null http://purl.obolibrary.org/obo/MONDO_0018918 node EFO_0010009 pVAC-Seq null http://www.ebi.ac.uk/efo/EFO_0010009 node EFO_0003083 pleomorphic liposarcoma null http://www.ebi.ac.uk/efo/EFO_0003083 node NCBITaxon_52670 Austrofundulus limnaeus null http://purl.obolibrary.org/obo/NCBITaxon_52670 node UBERON_0004167 orbitofrontal cortex null http://purl.obolibrary.org/obo/UBERON_0004167 node NCBITaxon_4606 Festuca arundinacea null http://purl.obolibrary.org/obo/NCBITaxon_4606 node UBERON_0004648 esophagus muscularis mucosa null http://purl.obolibrary.org/obo/UBERON_0004648 node EFO_1001763 basal cell neoplasm null http://www.ebi.ac.uk/efo/EFO_1001763 node Orphanet_271861 Familial transthyretin-related amyloidosis null http://www.orpha.net/ORDO/Orphanet_271861 node PO_0025034 leaf A lateral outgrowth from a plant stem that is typically a flattened expanded variably shaped greenish organ, constitutes a unit of the foliage, and functions primarily in food manufacture by photosynthesis. http://purl.obolibrary.org/obo/PO_0025034 node EFO_0000392 obsolete_damage response null http://www.ebi.ac.uk/efo/EFO_0000392 node CHEBI_32497 thioacetamide null http://purl.obolibrary.org/obo/CHEBI_32497 node EFO_1001073 optic nerve neoplasm null http://www.ebi.ac.uk/efo/EFO_1001073 node HANCESTRO_0006 South Asian null http://purl.obolibrary.org/obo/HANCESTRO_0006 node EFO_0004102 obsolete_seq library strategy null http://www.ebi.ac.uk/efo/EFO_0004102 node Orphanet_2136 Hennekam syndrome null http://www.orpha.net/ORDO/Orphanet_2136 node NCBITaxon_12305 Cucumber mosaic virus null http://purl.obolibrary.org/obo/NCBITaxon_12305 node Orphanet_168443 Spondyloepimetaphyseal dysplasia - hypotrichosis null http://www.orpha.net/ORDO/Orphanet_168443 node EFO_0007910 CHGB cleavage product measurement null http://www.ebi.ac.uk/efo/EFO_0007910 node Orphanet_1617 2q24 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_1617 node NCBITaxon_5664 Leishmania major null http://purl.obolibrary.org/obo/NCBITaxon_5664 node EFO_0007089 HUES64 null http://www.ebi.ac.uk/efo/EFO_0007089 node UBERON_0004068 medial nasal prominence null http://purl.obolibrary.org/obo/UBERON_0004068 node EFO_0008978 TSS Sequencing null http://www.ebi.ac.uk/efo/EFO_0008978 node Orphanet_79272 Sanfilippo syndrome type D null http://www.orpha.net/ORDO/Orphanet_79272 node Orphanet_263723 Polysomy of X chromosome null http://www.orpha.net/ORDO/Orphanet_263723 node Orphanet_307064 Rare genetic myoclonus null http://www.orpha.net/ORDO/Orphanet_307064 node EFO_1002003 hypersensitivity reaction disease null http://www.ebi.ac.uk/efo/EFO_1002003 node Orphanet_2224 Hypertryptophanemia null http://www.orpha.net/ORDO/Orphanet_2224 node Orphanet_79085 Familial partial lipodystrophy due to AKT2 mutations null http://www.orpha.net/ORDO/Orphanet_79085 node EFO_0005914 ZHBTc4-mESC null http://www.ebi.ac.uk/efo/EFO_0005914 node CHEBI_75034 1-stearoyl-2-oleoyl-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_75034 node EFO_0008760 GUIDE-seq null http://www.ebi.ac.uk/efo/EFO_0008760 node NCBITaxon_1598 Lactobacillus reuteri null http://purl.obolibrary.org/obo/NCBITaxon_1598 node MONDO_0002464 lacrimal gland cancer null http://purl.obolibrary.org/obo/MONDO_0002464 node CHEBI_9513 thalidomide null http://purl.obolibrary.org/obo/CHEBI_9513 node NCBITaxon_183190 Xylella fastidiosa Temecula1 null http://purl.obolibrary.org/obo/NCBITaxon_183190 node MONDO_0002928 carcinosarcoma null http://purl.obolibrary.org/obo/MONDO_0002928 node MONDO_0000515 bone chondrosarcoma null http://purl.obolibrary.org/obo/MONDO_0000515 node EFO_0008879 RAD-tag null http://www.ebi.ac.uk/efo/EFO_0008879 node Orphanet_79173 Disorder of methionine cycle and sulfur amino acid metabolism Editor note: check this http://www.orpha.net/ORDO/Orphanet_79173 node EFO_0005040 obsolete_response to temozolomide null http://www.ebi.ac.uk/efo/EFO_0005040 node Orphanet_99742 Amish lethal microcephaly null http://www.orpha.net/ORDO/Orphanet_99742 node Orphanet_51208 Formiminoglutamic aciduria null http://www.orpha.net/ORDO/Orphanet_51208 node EFO_0001388 obsolete_laryngopharynx null http://www.ebi.ac.uk/efo/EFO_0001388 node MONDO_0002071 supratentorial cancer null http://purl.obolibrary.org/obo/MONDO_0002071 node EFO_0009439 multiple births measurement null http://www.ebi.ac.uk/efo/EFO_0009439 node EFO_0006718 ovarian leiomyosarcoma null http://www.ebi.ac.uk/efo/EFO_0006718 node EFO_0008661 Bru-Seq null http://www.ebi.ac.uk/efo/EFO_0008661 node EFO_0001796 published null http://www.ebi.ac.uk/efo/EFO_0001796 node HP_0030834 Shoulder pain null http://purl.obolibrary.org/obo/HP_0030834 node MONDO_0000603 autoimmune disease of cardiovascular system null http://purl.obolibrary.org/obo/MONDO_0000603 node HP_0000580 Pigmentary retinopathy null http://purl.obolibrary.org/obo/HP_0000580 node EFO_0008590 Status Asthmaticus null http://www.ebi.ac.uk/efo/EFO_0008590 node MONDO_0009578 neurocutaneous melanocytosis null http://purl.obolibrary.org/obo/MONDO_0009578 node CHEBI_46819 urate salt null http://purl.obolibrary.org/obo/CHEBI_46819 node MONDO_0007220 brachydactyly type B1 null http://purl.obolibrary.org/obo/MONDO_0007220 node EFO_0003169 obsolete_Hispanic Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003169 node NCBITaxon_3467 Eschscholzia californica null http://purl.obolibrary.org/obo/NCBITaxon_3467 node Orphanet_98649 Dentocutaneous disease with cataract null http://www.orpha.net/ORDO/Orphanet_98649 node Orphanet_1788 Acrofacial dysostosis, Rodríguez type null http://www.orpha.net/ORDO/Orphanet_1788 node EFO_0009527 frostbite null http://www.ebi.ac.uk/efo/EFO_0009527 node EFO_0007733 LP/J null http://www.ebi.ac.uk/efo/EFO_0007733 node EFO_0003830 prostatitis null http://www.ebi.ac.uk/efo/EFO_0003830 node EFO_0006806 paragraph delayed recall measurement null http://www.ebi.ac.uk/efo/EFO_0006806 node Orphanet_442 Congenital hypothyroidism null http://www.orpha.net/ORDO/Orphanet_442 node Orphanet_320350 Pure or complex X-linked spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_320350 node EFO_0007546 Western equine encephalitis null http://www.ebi.ac.uk/efo/EFO_0007546 node EFO_0006619 KMS-34 null http://www.ebi.ac.uk/efo/EFO_0006619 node MONDO_0022057 calcifying epithelial odontogenic tumor null http://purl.obolibrary.org/obo/MONDO_0022057 node HP_0001510 Growth delay Poor or abnormally slow gains in weight or height in a child. http://purl.obolibrary.org/obo/HP_0001510 node Orphanet_2551 Microspherophakia - metaphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_2551 node HP_0004363 Abnormal circulating calcium concentration null http://purl.obolibrary.org/obo/HP_0004363 node EFO_0010489 glycerophosphocholine measurement null http://www.ebi.ac.uk/efo/EFO_0010489 node HP_0000481 Abnormal cornea morphology null http://purl.obolibrary.org/obo/HP_0000481 node Orphanet_663 Maternally-inherited progressive external ophthalmoplegia null http://www.orpha.net/ORDO/Orphanet_663 node Orphanet_397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies null http://www.orpha.net/ORDO/Orphanet_397758 node MONDO_0002674 stricture or kinking of ureter null http://purl.obolibrary.org/obo/MONDO_0002674 node Orphanet_309263 Metachromatic leukodystrophy, juvenile form null http://www.orpha.net/ORDO/Orphanet_309263 node Orphanet_1876 Oculogastrointestinal muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_1876 node Orphanet_3180 Spondylocamptodactyly syndrome null http://www.orpha.net/ORDO/Orphanet_3180 node Orphanet_293939 Distal Xq28 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_293939 node Orphanet_1699 Trisomy 12p null http://www.orpha.net/ORDO/Orphanet_1699 node EFO_1001478 systemic inflammatory response syndrome null http://www.ebi.ac.uk/efo/EFO_1001478 node Orphanet_163631 Bile acid synthesis defect with cholestasis and malabsorption null http://www.orpha.net/ORDO/Orphanet_163631 node EFO_0004582 liver enzyme measurement null http://www.ebi.ac.uk/efo/EFO_0004582 node MONDO_0000115 Chiari malformation Nomenclature of OMIM 118420 includes 207950 as another type. http://purl.obolibrary.org/obo/MONDO_0000115 node EFO_1001959 hilar cholangiocarcinoma null http://www.ebi.ac.uk/efo/EFO_1001959 node EFO_0008605 IgG/IgA pemphigus null http://www.ebi.ac.uk/efo/EFO_0008605 node CHEBI_70958 1-methylhistidine null http://purl.obolibrary.org/obo/CHEBI_70958 node EFO_0007634 major depressive episode null http://www.ebi.ac.uk/efo/EFO_0007634 node MONDO_0032925 respiratory papillomatosis, juvenile recurrent, congenital null http://purl.obolibrary.org/obo/MONDO_0032925 node EFO_0010577 response to dimethyl fumarate null http://www.ebi.ac.uk/efo/EFO_0010577 node MONDO_0009273 hydatidiform mole, recurrent, 1 null http://purl.obolibrary.org/obo/MONDO_0009273 node EFO_0001141 GM12156 null http://www.ebi.ac.uk/efo/EFO_0001141 node EFO_0003339 obsolete_posterior spiracle primordium null http://www.ebi.ac.uk/efo/EFO_0003339 node CHEBI_49183 phosphatidylcholine null http://purl.obolibrary.org/obo/CHEBI_49183 node CL_0000978 IgM short lived plasma cell null http://purl.obolibrary.org/obo/CL_0000978 node NCBITaxon_272559 Bacteroides fragilis NCTC 9343 null http://purl.obolibrary.org/obo/NCBITaxon_272559 node EFO_0001092 BT20 null http://www.ebi.ac.uk/efo/EFO_0001092 node NCBITaxon_65952 Rorippa sylvestris null http://purl.obolibrary.org/obo/NCBITaxon_65952 node Orphanet_1759 Thoraco-abdominal enteric duplication null http://www.orpha.net/ORDO/Orphanet_1759 node OBI_0000950 paraffin specimen null http://purl.obolibrary.org/obo/OBI_0000950 node EFO_0004670 beta-amyloid 1-42 measurement null http://www.ebi.ac.uk/efo/EFO_0004670 node EFO_0008007 age at assessment null http://www.ebi.ac.uk/efo/EFO_0008007 node CHEBI_7872 oxytocin null http://purl.obolibrary.org/obo/CHEBI_7872 node UBERON_0000112 sexually immature stage null http://purl.obolibrary.org/obo/UBERON_0000112 node MONDO_0004933 hypoplastic left heart syndrome prototype_pattern http://purl.obolibrary.org/obo/MONDO_0004933 node UBERON_0001929 supraoptic nucleus null http://purl.obolibrary.org/obo/UBERON_0001929 node EFO_0004354 circadian rhythm null http://www.ebi.ac.uk/efo/EFO_0004354 node EFO_0003427 obsolete_germ ring null http://www.ebi.ac.uk/efo/EFO_0003427 node CLO_0031509 GM14503 null http://purl.obolibrary.org/obo/CLO_0031509 node HP_0012378 Fatigue Fatigue is distinct from muscle weakness. http://purl.obolibrary.org/obo/HP_0012378 node Orphanet_28 Vitamin B12-responsive methylmalonic acidemia null http://www.orpha.net/ORDO/Orphanet_28 node Orphanet_166265 Dentinogenesis imperfecta type 3 null http://www.orpha.net/ORDO/Orphanet_166265 node Orphanet_169467 Recurrent Neisseria infections due to factor D deficiency null http://www.orpha.net/ORDO/Orphanet_169467 node EFO_1000145 breast fibrosis null http://www.ebi.ac.uk/efo/EFO_1000145 node EFO_1000626 obsolete_Wilms tumor (bis) null http://www.ebi.ac.uk/efo/EFO_1000626 node EFO_0010723 ocular sarcoidosis null http://www.ebi.ac.uk/efo/EFO_0010723 node HP_0001030 Fragile skin null http://purl.obolibrary.org/obo/HP_0001030 node Orphanet_488191 female infertility due to oocyte meiotic arrest null http://www.orpha.net/ORDO/Orphanet_488191 node Orphanet_309 Familial partial epilepsy null http://www.orpha.net/ORDO/Orphanet_309 node UBERON_0003883 CA3 field of hippocampus null http://purl.obolibrary.org/obo/UBERON_0003883 node EFO_0004442 AB SOLiD System 2.0 null http://www.ebi.ac.uk/efo/EFO_0004442 node EFO_0003515 obsolete_paraxial mesoderm null http://www.ebi.ac.uk/efo/EFO_0003515 node EFO_0004255 nephrotic syndrome null http://www.ebi.ac.uk/efo/EFO_0004255 node Orphanet_98590 Palpebral piliary tumor null http://www.orpha.net/ORDO/Orphanet_98590 node Orphanet_306588 Autosomal dominant Opitz G/BBB syndrome null http://www.orpha.net/ORDO/Orphanet_306588 node EFO_0004840 cortical thickness null http://www.ebi.ac.uk/efo/EFO_0004840 node EFO_1000714 impetigo null http://www.ebi.ac.uk/efo/EFO_1000714 node EFO_1000233 Endometrial Endometrioid Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000233 node EFO_0000950 obsolete_median fin skeleton null http://www.ebi.ac.uk/efo/EFO_0000950 node MONDO_0020091 male infertility due to obstructive azoospermia null http://purl.obolibrary.org/obo/MONDO_0020091 node HP_0007994 Peripheral visual field loss null http://purl.obolibrary.org/obo/HP_0007994 node EFO_0003736 obsolete_lung (Sus scrofa) null http://www.ebi.ac.uk/efo/EFO_0003736 node UBERON_0001137 dorsum null http://purl.obolibrary.org/obo/UBERON_0001137 node EFO_0010330 superior parietal cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010330 node EFO_0006582 HMY-1 null http://www.ebi.ac.uk/efo/EFO_0006582 node MONDO_0016726 neuronal tumor null http://purl.obolibrary.org/obo/MONDO_0016726 node CHEBI_16469 17beta-estradiol null http://purl.obolibrary.org/obo/CHEBI_16469 node EFO_0010811 carbohydrate intake measurement null http://www.ebi.ac.uk/efo/EFO_0010811 node EFO_1000527 Sinonasal Undifferentiated Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000527 node EFO_0000083 CS57742 null http://www.ebi.ac.uk/efo/EFO_0000083 node CL_0002454 Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell null http://purl.obolibrary.org/obo/CL_0002454 node Orphanet_171215 Low anorectal malformation null http://www.orpha.net/ORDO/Orphanet_171215 node EFO_0010624 tumor necrosis factor receptor superfamily member 1B measurement null http://www.ebi.ac.uk/efo/EFO_0010624 node EFO_0010072 toothache null http://www.ebi.ac.uk/efo/EFO_0010072 node UBERON_0005609 iliac artery null http://purl.obolibrary.org/obo/UBERON_0005609 node EFO_0005109 energy expenditure null http://www.ebi.ac.uk/efo/EFO_0005109 node NCBITaxon_85962 Helicobacter pylori 26695 null http://purl.obolibrary.org/obo/NCBITaxon_85962 node CLO_0016526 GM17838 null http://purl.obolibrary.org/obo/CLO_0016526 node EFO_1000321 Leydig Cell Tumor Editor notes: Adding an axiom to this to localize to leydig cell entails equivalence with testicular leydig cell tumor http://www.ebi.ac.uk/efo/EFO_1000321 node Orphanet_178364 Syndromic microphthalmia type 5 null http://www.orpha.net/ORDO/Orphanet_178364 node UBERON_0001225 cortex of kidney null http://purl.obolibrary.org/obo/UBERON_0001225 node EFO_0006670 NCI-H2073 null http://www.ebi.ac.uk/efo/EFO_0006670 node UBERON_0001038 chordotonal organ To be ceded to Arthropod anatomy ontology http://purl.obolibrary.org/obo/UBERON_0001038 node CHEBI_28843 5-amino-1-(5-phospho-D-ribosyl)imidazole null http://purl.obolibrary.org/obo/CHEBI_28843 node Orphanet_183554 Genetic respiratory or mediastinal malformation null http://www.orpha.net/ORDO/Orphanet_183554 node FBbt_00005667 embryonic pars intercerebralis null http://purl.obolibrary.org/obo/FBbt_00005667 node MONDO_0009374 hydroxyprolinemia (disease) null http://purl.obolibrary.org/obo/MONDO_0009374 node NCBITaxon_3701 Arabidopsis null http://purl.obolibrary.org/obo/NCBITaxon_3701 node MONDO_0000595 sexual and gender identity disorders null http://purl.obolibrary.org/obo/MONDO_0000595 node MONDO_0021246 pharynx neoplasm null http://purl.obolibrary.org/obo/MONDO_0021246 node MONDO_0005042 head disease null http://purl.obolibrary.org/obo/MONDO_0005042 node PO_0028002 sporophyte development stage null http://purl.obolibrary.org/obo/PO_0028002 node HANCESTRO_0008 Asian null http://purl.obolibrary.org/obo/HANCESTRO_0008 node CLO_0035608 AG07139 null http://purl.obolibrary.org/obo/CLO_0035608 node EFO_0007349 lumpy skin disease null http://www.ebi.ac.uk/efo/EFO_0007349 node HP_0000974 Hyperextensible skin Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds. http://purl.obolibrary.org/obo/HP_0000974 node EFO_0001652 obsolete_primordium null http://www.ebi.ac.uk/efo/EFO_0001652 node CHEBI_68848 gamma-Glu-Val null http://purl.obolibrary.org/obo/CHEBI_68848 node Orphanet_216981 Niemann-Pick disease type C, juvenile neurologic onset null http://www.orpha.net/ORDO/Orphanet_216981 node NCBITaxon_511145 Escherichia coli str. K-12 substr. MG1655 null http://purl.obolibrary.org/obo/NCBITaxon_511145 node EFO_0006415 HCA-7 null http://www.ebi.ac.uk/efo/EFO_0006415 node EFO_0003010 ILSXISS117/TejJ null http://www.ebi.ac.uk/efo/EFO_0003010 node MONDO_0021511 benign neoplasm of adrenal gland null http://purl.obolibrary.org/obo/MONDO_0021511 node Orphanet_98661 Syndromic retinitis pigmentosa null http://www.orpha.net/ORDO/Orphanet_98661 node MONDO_0015652 chromosomal anomaly with epilepsy as a major feature null http://purl.obolibrary.org/obo/MONDO_0015652 node Orphanet_261992 Partial monosomy of the short arm of chromosome 20 null http://www.orpha.net/ORDO/Orphanet_261992 node EFO_0008762 hi-CLIP null http://www.ebi.ac.uk/efo/EFO_0008762 node MONDO_0020595 disease of retroperitoneum null http://purl.obolibrary.org/obo/MONDO_0020595 node Orphanet_79503 Ichthyosis hystrix of Curth-Macklin null http://www.orpha.net/ORDO/Orphanet_79503 node EFO_0001961 obsolete_lateral ventricle null http://www.ebi.ac.uk/efo/EFO_0001961 node MONDO_0044887 central nervous system non-hodgkin lymphoma null http://purl.obolibrary.org/obo/MONDO_0044887 node NCBITaxon_72085 Sebastes melanops null http://purl.obolibrary.org/obo/NCBITaxon_72085 node Orphanet_289573 Fatal multiple mitochondrial dysfunction syndrome null http://www.orpha.net/ORDO/Orphanet_289573 node Orphanet_85335 Fried syndrome null http://www.orpha.net/ORDO/Orphanet_85335 node EFO_1000492 Primary Intraosseous Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000492 node Orphanet_2956 Prata-Liberal-Goncalves syndrome null http://www.orpha.net/ORDO/Orphanet_2956 node Orphanet_276280 Hemihyperplasia-multiple lipomatosis syndrome null http://www.orpha.net/ORDO/Orphanet_276280 node HP_0003282 Low alkaline phosphatase null http://purl.obolibrary.org/obo/HP_0003282 node Orphanet_2266 Hypotrichosis-intellectual disability, Lopes type null http://www.orpha.net/ORDO/Orphanet_2266 node EFO_0008850 PAS-Seq null http://www.ebi.ac.uk/efo/EFO_0008850 node EFO_0006493 SU-DHL-8 null http://www.ebi.ac.uk/efo/EFO_0006493 node EFO_0001939 obsolete_urine null http://www.ebi.ac.uk/efo/EFO_0001939 node MONDO_0020683 acute disease null http://purl.obolibrary.org/obo/MONDO_0020683 node UBERON_0001902 epithelium of small intestine null http://purl.obolibrary.org/obo/UBERON_0001902 node MONDO_0013483 obesity, hyperphagia, and developmental delay null http://purl.obolibrary.org/obo/MONDO_0013483 node EFO_0002176 EM2 null http://www.ebi.ac.uk/efo/EFO_0002176 node EFO_0001249 TERV null http://www.ebi.ac.uk/efo/EFO_0001249 node EFO_0008663 BruDRB-seq null http://www.ebi.ac.uk/efo/EFO_0008663 node UO_0000013 mole null http://purl.obolibrary.org/obo/UO_0000013 node MONDO_0044975 disease of transporter activity null http://purl.obolibrary.org/obo/MONDO_0044975 node EFO_0000665 obsolete_porphyria null http://www.ebi.ac.uk/efo/EFO_0000665 node Orphanet_255117 Autosomal dominant optic atrophy and late-onset deafness null http://www.orpha.net/ORDO/Orphanet_255117 node UBERON_0011242 ethmoid cartilage null http://purl.obolibrary.org/obo/UBERON_0011242 node GO_0070094 positive regulation of glucagon secretion null http://purl.obolibrary.org/obo/GO_0070094 node EFO_1000580 Thymic Undifferentiated Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000580 node MONDO_0019063 vascular anomaly Editor note: the original ORDO class name is 'vascular anomaly or angioma' but it is implicitly congenital due to its superclasses. TODO revise after https://github.com/Orphanet/ORDO/issues/2 http://purl.obolibrary.org/obo/MONDO_0019063 node NCBITaxon_8164 Lateolabrax japonicus null http://purl.obolibrary.org/obo/NCBITaxon_8164 node EFO_0008274 retinoic acid receptor responder protein 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008274 node MONDO_0013543 trypsinogen deficiency null http://purl.obolibrary.org/obo/MONDO_0013543 node EFO_0004371 gram per kilogram per day null http://www.ebi.ac.uk/efo/EFO_0004371 node GO_0051649 establishment of localization in cell null http://purl.obolibrary.org/obo/GO_0051649 node EFO_0003925 cognition null http://www.ebi.ac.uk/efo/EFO_0003925 node CHEBI_50059 imidazole null http://purl.obolibrary.org/obo/CHEBI_50059 node EFO_0008087 coagulation factor V measurement null http://www.ebi.ac.uk/efo/EFO_0008087 node EFO_0002264 NCI-H1703 null http://www.ebi.ac.uk/efo/EFO_0002264 node EFO_0001337 BDC2.5/NOD null http://www.ebi.ac.uk/efo/EFO_0001337 node CL_0000669 pericyte cell Pericytes are CD10-positive, CD13-positive, CD31-negative, CD45-negative, CD106-positive, CD117-negative, CD140-positive, CD144-negative, CD146-positive, CD271-positive, CD325-positive, NG2-positive, RGS5-positive, SMA-positive, and desmin-positive. A subpopulation is CD248-positive. They are also capable of producing angiopoietin 1, CXCL12, TGF-beta, and VEGF-A. http://purl.obolibrary.org/obo/CL_0000669 node UO_0000101 microliter null http://purl.obolibrary.org/obo/UO_0000101 node EFO_0000753 microRNA profiling by array null http://www.ebi.ac.uk/efo/EFO_0000753 node CHEBI_83047 1-stearoyl-sn-glycero-3-phosphoethanolamine null http://purl.obolibrary.org/obo/CHEBI_83047 node Orphanet_1174 Cerebellar ataxia - ectodermal dysplasia null http://www.orpha.net/ORDO/Orphanet_1174 node CHEBI_17879 4-hydroxybenzoate null http://purl.obolibrary.org/obo/CHEBI_17879 node EFO_0002077 Ramos null http://www.ebi.ac.uk/efo/EFO_0002077 node MONDO_0004403 childhood precursor T-lymphoblastic lymphoma/leukemia null http://purl.obolibrary.org/obo/MONDO_0004403 node EFO_0002662 dendritic cell-derived osteoclast null http://www.ebi.ac.uk/efo/EFO_0002662 node UBERON_0011143 upper urinary tract null http://purl.obolibrary.org/obo/UBERON_0011143 node CHEBI_6636 magnesium dichloride null http://purl.obolibrary.org/obo/CHEBI_6636 node EFO_0003808 labelling protocol null http://www.ebi.ac.uk/efo/EFO_0003808 node CHEBI_36064 taxane null http://purl.obolibrary.org/obo/CHEBI_36064 node EFO_1000323 Liver Diffuse Large B-Cell Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000323 node EFO_0009148 acth-independent macronodular adrenal hyperplasia 2 null http://www.ebi.ac.uk/efo/EFO_0009148 node EFO_0003118 NCI-H157 null http://www.ebi.ac.uk/efo/EFO_0003118 node EFO_0008175 interleukin 17 receptor A measurement null http://www.ebi.ac.uk/efo/EFO_0008175 node Orphanet_271853 Genetic cardiac anomaly null http://www.orpha.net/ORDO/Orphanet_271853 node Orphanet_3201 Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence null http://www.orpha.net/ORDO/Orphanet_3201 node CHEBI_11805 3-hydroxyisobutyrate null http://purl.obolibrary.org/obo/CHEBI_11805 node Orphanet_1262 Böök syndrome null http://www.orpha.net/ORDO/Orphanet_1262 node MONDO_0020001 respiratory or thoracic malformation null http://purl.obolibrary.org/obo/MONDO_0020001 node EFO_0002750 disturbed flow regions null http://www.ebi.ac.uk/efo/EFO_0002750 node Orphanet_99819 Familial gestational hyperthyroidism null http://www.orpha.net/ORDO/Orphanet_99819 node EFO_0002573 small adipocyte null http://www.ebi.ac.uk/efo/EFO_0002573 node CLO_0013990 GM17166 null http://purl.obolibrary.org/obo/CLO_0013990 node NCBITaxon_93062 Staphylococcus aureus subsp. aureus COL null http://purl.obolibrary.org/obo/NCBITaxon_93062 node HP_0000430 Underdeveloped nasal alae The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed. http://purl.obolibrary.org/obo/HP_0000430 node Orphanet_251004 Paternal uniparental disomy of chromosome 1 null http://www.orpha.net/ORDO/Orphanet_251004 node MONDO_0100080 cardioectodermal syndrome null http://purl.obolibrary.org/obo/MONDO_0100080 node EFO_0007936 disease prognosis measurement null http://www.ebi.ac.uk/efo/EFO_0007936 node EFO_0004531 urate measurement null http://www.ebi.ac.uk/efo/EFO_0004531 node EFO_0006965 Hh-0 null http://www.ebi.ac.uk/efo/EFO_0006965 node EFO_0000488 external control ratio null http://www.ebi.ac.uk/efo/EFO_0000488 node Orphanet_404454 Alacrimia-choreoathetosis-liver dysfunction syndrome null http://www.orpha.net/ORDO/Orphanet_404454 node NCBITaxon_1336 Streptococcus equi null http://purl.obolibrary.org/obo/NCBITaxon_1336 node EFO_1001169 scurvy An argument can be made that Vitamin C deficiency is a genetic disease shared by all humans, due to our loss of the GULO gene. See OMIM for discussion. Here we choose not to treat as genetic. http://www.ebi.ac.uk/efo/EFO_1001169 node EFO_0009119 precursor lymphoblastic lymphoma/leukemia null http://www.ebi.ac.uk/efo/EFO_0009119 node MONDO_0027751 serpinopathy with loss of serpin function null http://purl.obolibrary.org/obo/MONDO_0027751 node NCBITaxon_7213 Ceratitis capitata null http://purl.obolibrary.org/obo/NCBITaxon_7213 node CL_0000927 CD4-positive type I NK T cell secreting interleukin-4 null http://purl.obolibrary.org/obo/CL_0000927 node CLO_0034375 GM14153 null http://purl.obolibrary.org/obo/CLO_0034375 node EFO_0005719 Karpas 422 null http://www.ebi.ac.uk/efo/EFO_0005719 node EFO_0005160 Umkirch ecotype null http://www.ebi.ac.uk/efo/EFO_0005160 node EFO_0008951 STATseq null http://www.ebi.ac.uk/efo/EFO_0008951 node UO_0000095 volume unit null http://purl.obolibrary.org/obo/UO_0000095 node Orphanet_90786 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect null http://www.orpha.net/ORDO/Orphanet_90786 node EFO_1001257 acute erythroblastic leukemia null http://www.ebi.ac.uk/efo/EFO_1001257 node Orphanet_294026 2q31.1 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_294026 node MONDO_0019832 acquired pituitary hormone deficiency Editor note: check this http://purl.obolibrary.org/obo/MONDO_0019832 node EFO_0000389 cutaneous melanoma null http://www.ebi.ac.uk/efo/EFO_0000389 node EFO_0005687 fibromyalgia null http://www.ebi.ac.uk/efo/EFO_0005687 node NCBITaxon_33964 Leuconostoc citreum null http://purl.obolibrary.org/obo/NCBITaxon_33964 node EFO_0006584 Hs 255.T null http://www.ebi.ac.uk/efo/EFO_0006584 node EFO_0007907 methadone dose measurement null http://www.ebi.ac.uk/efo/EFO_0007907 node Orphanet_2268 ICF syndrome null http://www.orpha.net/ORDO/Orphanet_2268 node CLO_0014358 GM17227 null http://purl.obolibrary.org/obo/CLO_0014358 node EFO_0008852 PAT–ChIP null http://www.ebi.ac.uk/efo/EFO_0008852 node Orphanet_97290 Familial papillary thyroid carcinoma with renal papillary neoplasia Editor note: check MONDO:0000201 thyroid cancer, nonmedullary http://www.orpha.net/ORDO/Orphanet_97290 node MONDO_0012511 preterm premature rupture of the membranes null http://purl.obolibrary.org/obo/MONDO_0012511 node MONDO_0030074 spondylometaphyseal dysplasia with corneal dystrophy null http://purl.obolibrary.org/obo/MONDO_0030074 node Orphanet_79269 Sanfilippo syndrome type A null http://www.orpha.net/ORDO/Orphanet_79269 node Orphanet_166302 Benign partial epilepsy with secondarily generalized seizures in infancy null http://www.orpha.net/ORDO/Orphanet_166302 node EFO_0010414 triacylglycerol 52:2 measurement null http://www.ebi.ac.uk/efo/EFO_0010414 node HP_0012228 Tension-type headache null http://purl.obolibrary.org/obo/HP_0012228 node Orphanet_79311 Vitamin B12-responsive methylmalonic acidemia type cblB null http://www.orpha.net/ORDO/Orphanet_79311 node EFO_0006672 NCI-H2106 null http://www.ebi.ac.uk/efo/EFO_0006672 node CLO_0011394 GM09583 null http://purl.obolibrary.org/obo/CLO_0011394 node Orphanet_98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature null http://www.orpha.net/ORDO/Orphanet_98352 node EFO_1000990 intracranial arterial disease null http://www.ebi.ac.uk/efo/EFO_1000990 node Orphanet_2356 Arachnoid cyst null http://www.orpha.net/ORDO/Orphanet_2356 node EFO_0009684 quadriplegia null http://www.ebi.ac.uk/efo/EFO_0009684 node MONDO_0002185 hyperostosis null http://purl.obolibrary.org/obo/MONDO_0002185 node CL_0002403 mature Vgamma2-positive fetal thymocyte NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. http://purl.obolibrary.org/obo/CL_0002403 node EFO_0007759 alpha-linolenic acid measurement null http://www.ebi.ac.uk/efo/EFO_0007759 node EFO_0010021 miniARS-seq null http://www.ebi.ac.uk/efo/EFO_0010021 node EFO_0007320 hypodermyiasis null http://www.ebi.ac.uk/efo/EFO_0007320 node EFO_0010502 indoxyl sulfate measurement null http://www.ebi.ac.uk/efo/EFO_0010502 node EFO_0002193 HEL9217 null http://www.ebi.ac.uk/efo/EFO_0002193 node EFO_0001747 imprinting design null http://www.ebi.ac.uk/efo/EFO_0001747 node Orphanet_86820 Familial avascular necrosis of femoral head null http://www.orpha.net/ORDO/Orphanet_86820 node Orphanet_100011 Lissencephaly with cerebellar hypoplasia type A null http://www.orpha.net/ORDO/Orphanet_100011 node Orphanet_79212 Mucolipidosis null http://www.orpha.net/ORDO/Orphanet_79212 node EFO_1000873 commensal Bifidobacteriales infectious disease null http://www.ebi.ac.uk/efo/EFO_1000873 node EFO_0003895 epistaxis null http://www.ebi.ac.uk/efo/EFO_0003895 node CHEBI_63964 N(6)-acetimidoyl-L-lysine dihydrochloride null http://purl.obolibrary.org/obo/CHEBI_63964 node EFO_0002897 gram per kilogram null http://www.ebi.ac.uk/efo/EFO_0002897 node EFO_0007847 cheekbone morphology measurement null http://www.ebi.ac.uk/efo/EFO_0007847 node MONDO_0001704 vaginal glandular neoplasm null http://purl.obolibrary.org/obo/MONDO_0001704 node Orphanet_140957 Autosomal dominant macrothrombocytopenia null http://www.orpha.net/ORDO/Orphanet_140957 node Orphanet_3004 Mirror polydactyly - vertebral segmentation - limbs defects null http://www.orpha.net/ORDO/Orphanet_3004 node BTO_0004059 CCD-18Co cell null http://purl.obolibrary.org/obo/BTO_0004059 node HP_0000577 Exotropia null http://purl.obolibrary.org/obo/HP_0000577 node CL_0000510 paneth cell null http://purl.obolibrary.org/obo/CL_0000510 node HP_0031273 Shock null http://purl.obolibrary.org/obo/HP_0031273 node CHEBI_33097 P-nitrotoluene null http://purl.obolibrary.org/obo/CHEBI_33097 node MONDO_0024525 FRTS1 null http://purl.obolibrary.org/obo/MONDO_0024525 node EFO_0007221 contagious pleuropneumonia null http://www.ebi.ac.uk/efo/EFO_0007221 node UBERON_0002355 pelvic region of trunk null http://purl.obolibrary.org/obo/UBERON_0002355 node Orphanet_207078 Qualitative or quantitative defects of caveolin-3 null http://www.orpha.net/ORDO/Orphanet_207078 node UBERON_0001384 primary motor cortex null http://purl.obolibrary.org/obo/UBERON_0001384 node HP_0001840 Metatarsus adductus Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline. http://purl.obolibrary.org/obo/HP_0001840 node Orphanet_163 Hereditary hyperferritinemia with congenital cataracts null http://www.orpha.net/ORDO/Orphanet_163 node Orphanet_644 NARP syndrome null http://www.orpha.net/ORDO/Orphanet_644 node EFO_0001414 embryonic gonadal ridge null http://www.ebi.ac.uk/efo/EFO_0001414 node Orphanet_294975 Congenital absence of upper arm and forearm with hand present null http://www.orpha.net/ORDO/Orphanet_294975 node Orphanet_93220 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis null http://www.orpha.net/ORDO/Orphanet_93220 node MONDO_0044889 high grade B-cell lymphoma null http://purl.obolibrary.org/obo/MONDO_0044889 node MONDO_0016691 pilocytic astrocytoma null http://purl.obolibrary.org/obo/MONDO_0016691 node EFO_0009002 splenic disease null http://www.ebi.ac.uk/efo/EFO_0009002 node MONDO_0022200 treatment for disease This modifier may be obsoleted in favor of MAO http://purl.obolibrary.org/obo/MONDO_0022200 node Orphanet_163971 X-linked intellectual disability, Cilliers type null http://www.orpha.net/ORDO/Orphanet_163971 node CHEBI_91296 lysophosphatidylethanolamine 18:2 null http://purl.obolibrary.org/obo/CHEBI_91296 node Orphanet_93337 Polydactyly of an index finger null http://www.orpha.net/ORDO/Orphanet_93337 node EFO_0010433 triacylglycerol 56:6 measurement null http://www.ebi.ac.uk/efo/EFO_0010433 node EFO_0009716 age at first facial hair null http://www.ebi.ac.uk/efo/EFO_0009716 node NCBITaxon_319 Pseudomonas syringae pv. phaseolicola null http://purl.obolibrary.org/obo/NCBITaxon_319 node EFO_0003400 obsolete_trunk mesoderm anlage null http://www.ebi.ac.uk/efo/EFO_0003400 node UBERON_0001870 frontal cortex null http://purl.obolibrary.org/obo/UBERON_0001870 node HP_0000272 Malar flattening The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. http://purl.obolibrary.org/obo/HP_0000272 node MONDO_0044977 disease of receptor activity null http://purl.obolibrary.org/obo/MONDO_0044977 node HP_0010956 Fetal megacystis Abnormal enlargement of the fetal bladder can be detected by prenatal ultrasound by fourteen weeks of gestation. In some cases, dilatation of the fetal bladder is transient and resolves without sequelae, and in other cases it is the earliest manifestation of bladder outlet obstruction. http://purl.obolibrary.org/obo/HP_0010956 node EFO_0009529 anemia due to enzyme disorder null http://www.ebi.ac.uk/efo/EFO_0009529 node MONDO_0021670 post-infectious syndrome null http://purl.obolibrary.org/obo/MONDO_0021670 node EFO_1000038 obsolete_lung mucoepidermoid carcinoma null http://www.ebi.ac.uk/efo/EFO_1000038 node Orphanet_49042 Dentinogenesis imperfecta null http://www.orpha.net/ORDO/Orphanet_49042 node EFO_1000519 Salivary Gland Small Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000519 node UBERON_0002050 embryonic structure null http://purl.obolibrary.org/obo/UBERON_0002050 node EFO_0004468 glucose measurement null http://www.ebi.ac.uk/efo/EFO_0004468 node UBERON_0002531 paired fin bud null http://purl.obolibrary.org/obo/UBERON_0002531 node EFO_0009500 HCEC 1CT null http://www.ebi.ac.uk/efo/EFO_0009500 node Orphanet_231512 Hermansky-Pudlak syndrome without pulmonary fibrosis null http://www.orpha.net/ORDO/Orphanet_231512 node CHEBI_6801 metformin null http://purl.obolibrary.org/obo/CHEBI_6801 node EFO_0004373 milligram per square meter null http://www.ebi.ac.uk/efo/EFO_0004373 node EFO_1001844 skin mastocytoma null http://www.ebi.ac.uk/efo/EFO_1001844 node MONDO_0015502 pinnae and external auditory canal anomaly null http://purl.obolibrary.org/obo/MONDO_0015502 node HP_0002148 Hypophosphatemia null http://purl.obolibrary.org/obo/HP_0002148 node EFO_0006773 VMRC-LCD null http://www.ebi.ac.uk/efo/EFO_0006773 node Orphanet_293642 Blepharophimosis-intellectual disability syndrome null http://www.orpha.net/ORDO/Orphanet_293642 node EFO_0009617 knee fracture null http://www.ebi.ac.uk/efo/EFO_0009617 node MONDO_0016757 malignant triton tumor null http://purl.obolibrary.org/obo/MONDO_0016757 node MONDO_0020605 X-linked recessive disease null http://purl.obolibrary.org/obo/MONDO_0020605 node GO_0006796 phosphate-containing compound metabolic process null http://purl.obolibrary.org/obo/GO_0006796 node EFO_1000126 Bladder Flat Intraepithelial Lesion null http://www.ebi.ac.uk/efo/EFO_1000126 node BTO_0002279 J-774 cell null http://purl.obolibrary.org/obo/BTO_0002279 node UBERON_0001091 calcareous tooth null http://purl.obolibrary.org/obo/UBERON_0001091 node HP_0006118 Shortening of all distal phalanges of the fingers null http://purl.obolibrary.org/obo/HP_0006118 node PO_0020149 quiescent center If a root cap is present, the quiescent center is behind the root cap. http://purl.obolibrary.org/obo/PO_0020149 node EFO_1001932 adult acute megakaryoblastic leukemia null http://www.ebi.ac.uk/efo/EFO_1001932 node HP_0002236 Frontal upsweep of hair null http://purl.obolibrary.org/obo/HP_0002236 node EFO_0009401 hippocampal amigdala transition area volume null http://www.ebi.ac.uk/efo/EFO_0009401 node EFO_0006861 male breast carcinoma null http://www.ebi.ac.uk/efo/EFO_0006861 node GO_0009152 purine ribonucleotide biosynthetic process null http://purl.obolibrary.org/obo/GO_0009152 node EFO_1001755 accelerated phase myeloid leukemia null http://www.ebi.ac.uk/efo/EFO_1001755 node EFO_0006674 NCI-H2135 null http://www.ebi.ac.uk/efo/EFO_0006674 node CHEBI_84567 1-palmitoleoyl-2-linoleoyl-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_84567 node EFO_0000197 mucinous carcinoma null http://www.ebi.ac.uk/efo/EFO_0000197 node OMIT_0015366 Uridine Diphosphate null http://purl.obolibrary.org/obo/OMIT_0015366 node Orphanet_1555 Cutis gyrata - acanthosis nigricans - craniosynostosis null http://www.orpha.net/ORDO/Orphanet_1555 node EFO_1001815 nervous system heavy metal poisoning null http://www.ebi.ac.uk/efo/EFO_1001815 node CHEBI_27689 decanoate null http://purl.obolibrary.org/obo/CHEBI_27689 node HP_0002119 Ventriculomegaly null http://purl.obolibrary.org/obo/HP_0002119 node Orphanet_98587 Palpebral lentiginosis null http://www.orpha.net/ORDO/Orphanet_98587 node UBERON_0000999 ejaculatory duct null http://purl.obolibrary.org/obo/UBERON_0000999 node HP_0007552 Abnormal subcutaneous fat tissue distribution null http://purl.obolibrary.org/obo/HP_0007552 node EFO_0010808 response to tafenoquine null http://www.ebi.ac.uk/efo/EFO_0010808 node NCBITaxon_32247 Rubus idaeus null http://purl.obolibrary.org/obo/NCBITaxon_32247 node GO_0015939 pantothenate metabolic process null http://purl.obolibrary.org/obo/GO_0015939 node Orphanet_71291 Hereditary vascular retinopathy null http://www.orpha.net/ORDO/Orphanet_71291 node EFO_1001422 Sertoli Cell-Only Syndrome Editor note: consider moving OMIMPS from azoospermia to here http://www.ebi.ac.uk/efo/EFO_1001422 node MONDO_0007586 exostoses, multiple, type 2 null http://purl.obolibrary.org/obo/MONDO_0007586 node EFO_0005852 Heschl's gyrus morphology measurement null http://www.ebi.ac.uk/efo/EFO_0005852 node MONDO_0034204 syndromic congenital sodium diarrhea null http://purl.obolibrary.org/obo/MONDO_0034204 node EFO_0004925 tumor stage All child terms imported from RadLex, with Radlex Xrefs. Closest classification to ArrayExpress type data. http://www.ebi.ac.uk/efo/EFO_0004925 node PO_0007067 LP.17 seventeen leaves visible stage null http://purl.obolibrary.org/obo/PO_0007067 node UBERON_2005093 nasal vein null http://purl.obolibrary.org/obo/UBERON_2005093 node EFO_0008567 Illumina HiSeq X null http://www.ebi.ac.uk/efo/EFO_0008567 node BFO_0000016 disposition null http://purl.obolibrary.org/obo/BFO_0000016 node EFO_0004058 MT3847 null http://www.ebi.ac.uk/efo/EFO_0004058 node Orphanet_104004 Intestinal disease due to vitamin absorption anomaly Editor note: groups different mechanisms: http://www.orpha.net/ORDO/Orphanet_104004 node MONDO_0002930 kidney sarcoma null http://purl.obolibrary.org/obo/MONDO_0002930 node GO_0060073 micturition null http://purl.obolibrary.org/obo/GO_0060073 node CHEBI_16020 1-methyladenosine null http://purl.obolibrary.org/obo/CHEBI_16020 node NCBITaxon_296543 Thalassiosira pseudonana CCMP1335 null http://purl.obolibrary.org/obo/NCBITaxon_296543 node CL_0000055 non-terminally differentiated cell define using PATO mulit-potent or oligopotent? http://purl.obolibrary.org/obo/CL_0000055 node Orphanet_211017 Spinocerebellar ataxia type 30 null http://www.orpha.net/ORDO/Orphanet_211017 node CHEBI_18059 lipid null http://purl.obolibrary.org/obo/CHEBI_18059 node EFO_0008655 Barcode-Seq null http://www.ebi.ac.uk/efo/EFO_0008655 node CHEBI_38498 mitochondrial NADH:ubiquinone reductase inhibitor null http://purl.obolibrary.org/obo/CHEBI_38498 node CHEBI_50792 estrogen receptor antagonist role null http://purl.obolibrary.org/obo/CHEBI_50792 node MONDO_0018532 adenocarcinoma of liver and intrahepatic biliary tract null http://purl.obolibrary.org/obo/MONDO_0018532 node PATO_0001382 tetraploid null http://purl.obolibrary.org/obo/PATO_0001382 node NCBITaxon_174621 Wyeomyia smithii null http://purl.obolibrary.org/obo/NCBITaxon_174621 node MONDO_0001784 malignant renovascular hypertension null http://purl.obolibrary.org/obo/MONDO_0001784 node Orphanet_309169 Sandhoff disease, adult form null http://www.orpha.net/ORDO/Orphanet_309169 node Orphanet_98658 Color-vision disease null http://www.orpha.net/ORDO/Orphanet_98658 node EFO_0008079 cell adhesion molecule-related/down-regulated by oncogenes measurement null http://www.ebi.ac.uk/efo/EFO_0008079 node EFO_0001912 obsolete_caudate putamen null http://www.ebi.ac.uk/efo/EFO_0001912 node NCBITaxon_10181 Heterocephalus glaber null http://purl.obolibrary.org/obo/NCBITaxon_10181 node EFO_0007538 viral encephalitis Editor note: we place the Orphanet class here as it is implicitly viral http://www.ebi.ac.uk/efo/EFO_0007538 node EFO_0001222 NIH3T3 null http://www.ebi.ac.uk/efo/EFO_0001222 node Orphanet_247 Arrhythmogenic right ventricular dysplasia null http://www.orpha.net/ORDO/Orphanet_247 node HP_0031678 Atherosclerotic lesion null http://purl.obolibrary.org/obo/HP_0031678 node Orphanet_2907 Hereditary acrokeratotic poikiloderma, Weary type null http://www.orpha.net/ORDO/Orphanet_2907 node EFO_0009686 respiratory failure null http://www.ebi.ac.uk/efo/EFO_0009686 node HP_0004719 Hyperechogenic kidneys Normal renal parenchyma is similar (isoechoic) or slightly darker (hypoechoic) compared with liver and includes the cortex and medulla. The thickness of the renal cortex is measured from the outer border of the medullary pyramids (yellow line) or from the arcuate arteries to the renal capsule. The medullary pyramids (white arrow) contain fluid in parallel tubules, which is anechoic (black) and appear as regularly spaced dark pools at the inner margin of the parenchyma (arrow). Because fat is echogenic, the central renal sinus appears bright. http://purl.obolibrary.org/obo/HP_0004719 node UBERON_0007292 presumptive rhombomere 5 null http://purl.obolibrary.org/obo/UBERON_0007292 node MONDO_0019541 non-infectious posterior uveitis null http://purl.obolibrary.org/obo/MONDO_0019541 node EFO_0008801 MDS null http://www.ebi.ac.uk/efo/EFO_0008801 node NCBITaxon_817 Bacteroides fragilis null http://purl.obolibrary.org/obo/NCBITaxon_817 node EFO_0007322 idiopathic CD4-positive T-lymphocytopenia null http://www.ebi.ac.uk/efo/EFO_0007322 node Orphanet_1000 Ocular albinism with late-onset sensorineural deafness null http://www.orpha.net/ORDO/Orphanet_1000 node EFO_0002195 HMCB null http://www.ebi.ac.uk/efo/EFO_0002195 node EFO_1000489 Poorly Differentiated Thyroid Gland Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000489 node CHEBI_32635 paracetamol sulfate null http://purl.obolibrary.org/obo/CHEBI_32635 node CHEBI_64483 lysophosphatidylcholine 14:0 null http://purl.obolibrary.org/obo/CHEBI_64483 node EFO_0001310 obsolete_pharyngula stage null http://www.ebi.ac.uk/efo/EFO_0001310 node EFO_0009492 cardiac arrest null http://www.ebi.ac.uk/efo/EFO_0009492 node Orphanet_93429 Multiple epiphyseal dysplasia and pseudoachondroplasia null http://www.orpha.net/ORDO/Orphanet_93429 node EFO_0009869 xerostomia null http://www.ebi.ac.uk/efo/EFO_0009869 node EFO_0009951 response to surgery null http://www.ebi.ac.uk/efo/EFO_0009951 node MONDO_0032885 spondyloepimetaphyseal dysplasia, Isidor-Toutain type null http://purl.obolibrary.org/obo/MONDO_0032885 node CHEBI_83501 acesulfame null http://purl.obolibrary.org/obo/CHEBI_83501 node EFO_0007439 pityriasis versicolor null http://www.ebi.ac.uk/efo/EFO_0007439 node EFO_0003480 obsolete_rhombomere 6 null http://www.ebi.ac.uk/efo/EFO_0003480 node MONDO_0024304 ichthyosis vulgaris null http://purl.obolibrary.org/obo/MONDO_0024304 node EFO_0002378 SW982 null http://www.ebi.ac.uk/efo/EFO_0002378 node Orphanet_75378 Oligocone trichromacy null http://www.orpha.net/ORDO/Orphanet_75378 node EFO_0007410 ornithosis null http://www.ebi.ac.uk/efo/EFO_0007410 node Orphanet_69085 Limb-mammary syndrome null http://www.orpha.net/ORDO/Orphanet_69085 node MONDO_0040653 autosomal recessive ocular albinism null http://purl.obolibrary.org/obo/MONDO_0040653 node Orphanet_417 Neonatal severe primary hyperparathyroidism null http://www.orpha.net/ORDO/Orphanet_417 node Orphanet_3453 Autoimmune polyendocrinopathy type 1 null http://www.orpha.net/ORDO/Orphanet_3453 node CHEBI_64090 tert-butyl hydroperoxide null http://purl.obolibrary.org/obo/CHEBI_64090 node Orphanet_2526 Microcephaly - lymphedema - chorioretinopathy null http://www.orpha.net/ORDO/Orphanet_2526 node EFO_0007223 Coronaviridae infectious disease null http://www.ebi.ac.uk/efo/EFO_0007223 node MONDO_0002428 protozoa infectious disease null http://purl.obolibrary.org/obo/MONDO_0002428 node EFO_0009580 prophylactic surgery null http://www.ebi.ac.uk/efo/EFO_0009580 node CHEBI_70984 N-isovalerylglycine null http://purl.obolibrary.org/obo/CHEBI_70984 node GO_0005739 mitochondrion null http://purl.obolibrary.org/obo/GO_0005739 node EFO_0009393 breast pressure measurement null http://www.ebi.ac.uk/efo/EFO_0009393 node NCBITaxon_3661 Cucurbita maxima null http://purl.obolibrary.org/obo/NCBITaxon_3661 node CHEBI_71415 nitrofurantoin null http://purl.obolibrary.org/obo/CHEBI_71415 node EFO_0004159 SOLiD native csfasta format null http://www.ebi.ac.uk/efo/EFO_0004159 node HP_0011868 Sciatica null http://purl.obolibrary.org/obo/HP_0011868 node PO_0005059 root endodermis null http://purl.obolibrary.org/obo/PO_0005059 node EFO_0002846 PC-7 null http://www.ebi.ac.uk/efo/EFO_0002846 node EFO_0000854 obsolete_mammary gland null http://www.ebi.ac.uk/efo/EFO_0000854 node PO_0009007 portion of plant tissue A portion of plant tissue may contain one or several types of cells that are organized in a specific spatial arrangement into a structural unit (which includes a mass of callus) and may include an intercellular matrix. May include other types of isolated cells, such as idioblasts. http://purl.obolibrary.org/obo/PO_0009007 node Orphanet_98131 Total autosomal trisomy null http://www.orpha.net/ORDO/Orphanet_98131 node CL_0000793 CD4-positive, alpha-beta intraepithelial T cell null http://purl.obolibrary.org/obo/CL_0000793 node Orphanet_505 Graham Little-Piccardi-Lassueur syndrome null http://www.orpha.net/ORDO/Orphanet_505 node Orphanet_2098 Acromesomelic dysplasia, Grebe type null http://www.orpha.net/ORDO/Orphanet_2098 node EFO_0009004 hyperestrogenism null http://www.ebi.ac.uk/efo/EFO_0009004 node EFO_0002659 MDCC-MSB1 null http://www.ebi.ac.uk/efo/EFO_0002659 node EFO_0003791 interleukin (Homo sapiens) null http://www.ebi.ac.uk/efo/EFO_0003791 node EFO_0003586 obsolete_floor plate rhombomere 3 null http://www.ebi.ac.uk/efo/EFO_0003586 node EFO_0007609 Pedriza ecotype null http://www.ebi.ac.uk/efo/EFO_0007609 node EFO_0000240 obsolete_adult eye primordium null http://www.ebi.ac.uk/efo/EFO_0000240 node Orphanet_2614 Nail-patella syndrome null http://www.orpha.net/ORDO/Orphanet_2614 node EFO_1001990 ocular motility disease null http://www.ebi.ac.uk/efo/EFO_1001990 node EFO_0000053 CS57655 null http://www.ebi.ac.uk/efo/EFO_0000053 node Orphanet_168588 Hyperandrogenism due to cortisone reductase deficiency null http://www.orpha.net/ORDO/Orphanet_168588 node MONDO_0020950 viral eye infection null http://purl.obolibrary.org/obo/MONDO_0020950 node NCBITaxon_9627 Vulpes vulpes null http://purl.obolibrary.org/obo/NCBITaxon_9627 node EFO_1000905 drug-induced hepatitis null http://www.ebi.ac.uk/efo/EFO_1000905 node EFO_0001045 apoplasm null http://www.ebi.ac.uk/efo/EFO_0001045 node EFO_0004247 mood disorder null http://www.ebi.ac.uk/efo/EFO_0004247 node EFO_1001142 pyruvate carboxylase deficiency disease null http://www.ebi.ac.uk/efo/EFO_1001142 node EFO_1000171 Cervical Small Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000171 node EFO_0000942 obsolete_axial skeleton structure null http://www.ebi.ac.uk/efo/EFO_0000942 node EFO_0002747 ObOb null http://www.ebi.ac.uk/efo/EFO_0002747 node MONDO_0020083 immunodeficiency-associated lymphoproliferative disease null http://purl.obolibrary.org/obo/MONDO_0020083 node MONDO_0004007 breast intraductal proliferative lesion null http://purl.obolibrary.org/obo/MONDO_0004007 node MONDO_0016232 rare venous malformation Editor note: check this http://purl.obolibrary.org/obo/MONDO_0016232 node EFO_0004645 response to vaccine null http://www.ebi.ac.uk/efo/EFO_0004645 node EFO_0000755 obsolete_colorectal carcinoma null http://www.ebi.ac.uk/efo/EFO_0000755 node HP_0010314 Premature thelarche null http://purl.obolibrary.org/obo/HP_0010314 node CHEBI_27573 silicon null http://purl.obolibrary.org/obo/CHEBI_27573 node EFO_0003674 obsolete_dorsal anterior lateral line ganglion null http://www.ebi.ac.uk/efo/EFO_0003674 node CLO_0013987 GM17168 null http://purl.obolibrary.org/obo/CLO_0013987 node EFO_0000141 CS57842 null http://www.ebi.ac.uk/efo/EFO_0000141 node EFO_0000439 obsolete_embryonic antennal sense organ null http://www.ebi.ac.uk/efo/EFO_0000439 node EFO_0001133 GM12044 null http://www.ebi.ac.uk/efo/EFO_0001133 node UBERON_2000857 somite 4 null http://purl.obolibrary.org/obo/UBERON_2000857 node EFO_0005274 sleep time null http://www.ebi.ac.uk/efo/EFO_0005274 node Orphanet_88939 Pseudohypoaldosteronism type 2B null http://www.orpha.net/ORDO/Orphanet_88939 node Orphanet_85273 X-linked intellectual disability, Abidi type null http://www.orpha.net/ORDO/Orphanet_85273 node EFO_1001230 uveal cancer null http://www.ebi.ac.uk/efo/EFO_1001230 node MONDO_0000565 infective endocarditis null http://purl.obolibrary.org/obo/MONDO_0000565 node EFO_0005097 obsolete_bronchiole null http://www.ebi.ac.uk/efo/EFO_0005097 node EFO_0000362 obsolete_colon adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0000362 node EFO_0005660 plasma beta-amyloid 1-42 measurement null http://www.ebi.ac.uk/efo/EFO_0005660 node EFO_0004733 anti-cyclic citrullinated peptide antibody measurement null http://www.ebi.ac.uk/efo/EFO_0004733 node EFO_0004528 mean corpuscular hemoglobin concentration null http://www.ebi.ac.uk/efo/EFO_0004528 node UBERON_2001280 branchiostegal ray 3 null http://purl.obolibrary.org/obo/UBERON_2001280 node Orphanet_100984 Autosomal dominant spastic paraplegia type 3 null http://www.orpha.net/ORDO/Orphanet_100984 node IAO_0000009 label null http://purl.obolibrary.org/obo/IAO_0000009 node NCBITaxon_195635 Pleuronichthys verticalis null http://purl.obolibrary.org/obo/NCBITaxon_195635 node Orphanet_295067 Femoral agenesis/hypoplasia, bilateral null http://www.orpha.net/ORDO/Orphanet_295067 node CHEBI_58875 hyodeoxycholate null http://purl.obolibrary.org/obo/CHEBI_58875 node MONDO_0016541 acquired secondary polycythemia null http://purl.obolibrary.org/obo/MONDO_0016541 node EFO_1001208 tarsal tunnel syndrome null http://www.ebi.ac.uk/efo/EFO_1001208 node Orphanet_397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome null http://www.orpha.net/ORDO/Orphanet_397709 node Orphanet_238517 Hypotonia - cystinuria type 1 null http://www.orpha.net/ORDO/Orphanet_238517 node GO_0030658 transport vesicle membrane null http://purl.obolibrary.org/obo/GO_0030658 node CHEBI_18102 O-octanoyl-L-carnitine null http://purl.obolibrary.org/obo/CHEBI_18102 node MONDO_0001580 lacrimal duct cancer null http://purl.obolibrary.org/obo/MONDO_0001580 node MONDO_0000653 integumentary system cancer null http://purl.obolibrary.org/obo/MONDO_0000653 node MONDO_0021184 deltaretrovirus infections null http://purl.obolibrary.org/obo/MONDO_0021184 node EFO_0008948 SS3-Seq null http://www.ebi.ac.uk/efo/EFO_0008948 node EFO_0005543 glioma null http://www.ebi.ac.uk/efo/EFO_0005543 node EFO_0004616 osteoarthritis, knee null http://www.ebi.ac.uk/efo/EFO_0004616 node Orphanet_370097 Oculocutaneous albinism type 6 null http://www.orpha.net/ORDO/Orphanet_370097 node UBERON_0000970 eye null http://purl.obolibrary.org/obo/UBERON_0000970 node NCBITaxon_27334 Penicillium expansum null http://purl.obolibrary.org/obo/NCBITaxon_27334 node EFO_0003002 ILSXISS99/TejJ null http://www.ebi.ac.uk/efo/EFO_0003002 node EFO_0010528 quinolinic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010528 node Orphanet_233655 Rare genetic vascular disease null http://www.orpha.net/ORDO/Orphanet_233655 node PO_0030007 meristematic apical cell Apical cells occur only at the tip of a shoot axis apex, leaf apex, root apex, thallus apex, or protonema in bryophytes and some pteridophytes. Apical growth results from division of a single meristematic cell located at the tip of an apical meristem or plant organ, rather than from a population of meristematic cells located at the tip of an apical meristem. The apical cell may be tetrahedral shaped, with three (in shoots) or four (in roots) cutting faces, or wedge-shaped (lenticular) with two cutting faces (in non-vascular leaves or thalli). An apical cell may be established upon germination of a spore or upon the first cell division of an embryo, or later. http://purl.obolibrary.org/obo/PO_0030007 node MONDO_0004163 bladder urachal urothelial carcinoma null http://purl.obolibrary.org/obo/MONDO_0004163 node EFO_0006623 KP-4 null http://www.ebi.ac.uk/efo/EFO_0006623 node Orphanet_98947 Coloboma of optic papilla null http://www.orpha.net/ORDO/Orphanet_98947 node EFO_1001517 renal fibrosis null http://www.ebi.ac.uk/efo/EFO_1001517 node MONDO_0007763 nonpapillary renal cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0007763 node PO_0009089 endosperm In angiosperms endosperm is usually triploid and formed after fertilization by the fusion of one gamete with the polar nucleus; sometimes diploid or polyploid. http://purl.obolibrary.org/obo/PO_0009089 node CL_0002397 CD14-positive, CD16-positive monocyte This cell type is compatible with the HIPC Lyoplate markers for 'CD16+ monocyte'. Markers are associated with human cells. Note that this cell type encompasses both human intermediate monocytes (CD14+, CD16-low), and human non-classical monocytes (CD14-low, CD16+). http://purl.obolibrary.org/obo/CL_0002397 node UBERON_2000610 vertical myoseptum null http://purl.obolibrary.org/obo/UBERON_2000610 node OBI_0000245 organization null http://purl.obolibrary.org/obo/OBI_0000245 node EFO_0010135 urine specific gravity measurement null http://www.ebi.ac.uk/efo/EFO_0010135 node ZFA_0001370 posterior pancreatic bud null http://purl.obolibrary.org/obo/ZFA_0001370 node EFO_0010616 renin measurement null http://www.ebi.ac.uk/efo/EFO_0010616 node MONDO_0002041 fungal infectious disease null http://purl.obolibrary.org/obo/MONDO_0002041 node CLO_0016518 GM17826 null http://purl.obolibrary.org/obo/CLO_0016518 node HP_0002980 Femoral bowing null http://purl.obolibrary.org/obo/HP_0002980 node Orphanet_98554 Major induction processes eye anomaly null http://www.orpha.net/ORDO/Orphanet_98554 node Orphanet_98349 Autosomal dominant isolated diffuse palmoplantar keratoderma null http://www.orpha.net/ORDO/Orphanet_98349 node EFO_1000987 intestinal perforation null http://www.ebi.ac.uk/efo/EFO_1000987 node UBERON_0002028 hindbrain null http://purl.obolibrary.org/obo/UBERON_0002028 node NCBITaxon_82328 Lilium regale null http://purl.obolibrary.org/obo/NCBITaxon_82328 node EFO_0010018 2OMe-seq null http://www.ebi.ac.uk/efo/EFO_0010018 node EFO_0002848 QG56 null http://www.ebi.ac.uk/efo/EFO_0002848 node NCBITaxon_10524 Human adenovirus 41 null http://purl.obolibrary.org/obo/NCBITaxon_10524 node EFO_0008244 neurexophilin-1 measurement null http://www.ebi.ac.uk/efo/EFO_0008244 node UO_0000022 milligram null http://purl.obolibrary.org/obo/UO_0000022 node MONDO_0001082 lymph node cancer null http://purl.obolibrary.org/obo/MONDO_0001082 node Orphanet_269567 Genetic syndrome with a cerebellar malformation as major feature null http://www.orpha.net/ORDO/Orphanet_269567 node EFO_0007703 hystidil-tRNA synthetase autoantibody measurement null http://www.ebi.ac.uk/efo/EFO_0007703 node EFO_0001390 obsolete_corpus callosum null http://www.ebi.ac.uk/efo/EFO_0001390 node PO_0007016 whole plant flowering stage null http://purl.obolibrary.org/obo/PO_0007016 node CLO_0016606 GM17757 null http://purl.obolibrary.org/obo/CLO_0016606 node Orphanet_896 Waardenburg syndrome type 3 null http://www.orpha.net/ORDO/Orphanet_896 node HP_0040188 Osteochondrosis null http://purl.obolibrary.org/obo/HP_0040188 node Orphanet_90186 Meige disease null http://www.orpha.net/ORDO/Orphanet_90186 node Orphanet_100008 Hereditary cerebral hemorrhage with amyloidosis, Icelandic type null http://www.orpha.net/ORDO/Orphanet_100008 node Orphanet_3472 Yunis-Varon syndrome null http://www.orpha.net/ORDO/Orphanet_3472 node UBERON_0006530 seminal fluid null http://purl.obolibrary.org/obo/UBERON_0006530 node Orphanet_250165 Genetic polycythemia null http://www.orpha.net/ORDO/Orphanet_250165 node NCBITaxon_39946 Oryza sativa Indica Group null http://purl.obolibrary.org/obo/NCBITaxon_39946 node Orphanet_263516 Progressive myoclonic epilepsy type 3 null http://www.orpha.net/ORDO/Orphanet_263516 node EFO_0002455 obsolete_hippocampus CA2 null http://www.ebi.ac.uk/efo/EFO_0002455 node Orphanet_238536 Congenital secondary polycythemia null http://www.orpha.net/ORDO/Orphanet_238536 node EFO_0006358 59M null http://www.ebi.ac.uk/efo/EFO_0006358 node EFO_0010106 CD3-positive T-lymphocyte count null http://www.ebi.ac.uk/efo/EFO_0010106 node EFO_0002936 rat cell line null http://www.ebi.ac.uk/efo/EFO_0002936 node EFO_0008332 interleukin 2 receptor antagonist measurement null http://www.ebi.ac.uk/efo/EFO_0008332 node CLO_0030328 GM15056 null http://purl.obolibrary.org/obo/CLO_0030328 node EFO_0002069 KELLY null http://www.ebi.ac.uk/efo/EFO_0002069 node Orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_102015 node NCBITaxon_9796 Equus caballus null http://purl.obolibrary.org/obo/NCBITaxon_9796 node NCBITaxon_45596 Candida tenuis null http://purl.obolibrary.org/obo/NCBITaxon_45596 node CHEBI_63490 explosive role null http://purl.obolibrary.org/obo/CHEBI_63490 node EFO_0003394 obsolete_embryonic stomatogastric nervous system null http://www.ebi.ac.uk/efo/EFO_0003394 node Orphanet_268392 Cervical spina bifida aperta null http://www.orpha.net/ORDO/Orphanet_268392 node EFO_0009271 Epstein Barr virus nuclear antigen-1 seropositivity null http://www.ebi.ac.uk/efo/EFO_0009271 node EFO_0006446 IM-95 null http://www.ebi.ac.uk/efo/EFO_0006446 node EFO_0002543 mouse prenatal null http://www.ebi.ac.uk/efo/EFO_0002543 node CLO_0013960 GM17155 null http://purl.obolibrary.org/obo/CLO_0013960 node MONDO_0020636 mendelian susceptibility to mycobacterial diseases due to a complete deficiency null http://purl.obolibrary.org/obo/MONDO_0020636 node EFO_0009084 Endarteritis null http://www.ebi.ac.uk/efo/EFO_0009084 node HP_0000223 Abnormality of taste sensation null http://purl.obolibrary.org/obo/HP_0000223 node MONDO_0016730 gangliocytoma null http://purl.obolibrary.org/obo/MONDO_0016730 node Orphanet_306436 Congenital sucrase-isomaltase deficiency with starch intolerance null http://www.orpha.net/ORDO/Orphanet_306436 node Orphanet_35125 Epidermal nevus syndrome null http://www.orpha.net/ORDO/Orphanet_35125 node EFO_0003482 obsolete_somite 5 null http://www.ebi.ac.uk/efo/EFO_0003482 node EFO_0004324 body weights and measures null http://www.ebi.ac.uk/efo/EFO_0004324 node HP_0000925 Abnormality of the vertebral column null http://purl.obolibrary.org/obo/HP_0000925 node Orphanet_261956 Partial deletion of the short arm of chromosome 16 null http://www.orpha.net/ORDO/Orphanet_261956 node Orphanet_137831 X-linked intellectual disability - cerebellar hypoplasia null http://www.orpha.net/ORDO/Orphanet_137831 node Orphanet_192 Coffin-Lowry syndrome null http://www.orpha.net/ORDO/Orphanet_192 node NCBITaxon_272563 Clostridium difficile 630 null http://purl.obolibrary.org/obo/NCBITaxon_272563 node UBERON_0000305 amnion null http://purl.obolibrary.org/obo/UBERON_0000305 node EFO_0009172 thyroxine-binding globulin measurement null http://www.ebi.ac.uk/efo/EFO_0009172 node EFO_0009653 RNA-seq of total RNA null http://www.ebi.ac.uk/efo/EFO_0009653 node Orphanet_69087 Naegeli-Franceschetti-Jadassohn syndrome null http://www.orpha.net/ORDO/Orphanet_69087 node UBERON_0001042 chordate pharynx Consider generalizing to deuterostome pharynx http://purl.obolibrary.org/obo/UBERON_0001042 node Orphanet_227535 Hereditary breast cancer Editor note: check w clingen before merge https://github.com/monarch-initiative/mondo/issues/84 http://www.orpha.net/ORDO/Orphanet_227535 node MONDO_0060556 joint laxity, short stature, and myopia null http://purl.obolibrary.org/obo/MONDO_0060556 node MONDO_0012988 hypogonadotropic hypogonadism 6 with or without anosmia null http://purl.obolibrary.org/obo/MONDO_0012988 node MONDO_0018829 familial schizencephaly null http://purl.obolibrary.org/obo/MONDO_0018829 node Orphanet_178025 Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations null http://www.orpha.net/ORDO/Orphanet_178025 node EFO_0003570 obsolete_floor plate rhombomere 8 null http://www.ebi.ac.uk/efo/EFO_0003570 node EFO_0003365 obsolete_longitudinal visceral muscle primordium null http://www.ebi.ac.uk/efo/EFO_0003365 node EFO_0004412 Theiler stage 25 null http://www.ebi.ac.uk/efo/EFO_0004412 node Orphanet_1399 Richards-Rundle syndrome null http://www.orpha.net/ORDO/Orphanet_1399 node CLO_0014902 GM17106 null http://purl.obolibrary.org/obo/CLO_0014902 node NCBITaxon_4498 Avena sativa null http://purl.obolibrary.org/obo/NCBITaxon_4498 node HP_0100023 Recurrent hand flapping null http://purl.obolibrary.org/obo/HP_0100023 node Orphanet_3157 Septo-optic dysplasia null http://www.orpha.net/ORDO/Orphanet_3157 node UBERON_0007142 left internal carotid artery null http://purl.obolibrary.org/obo/UBERON_0007142 node CHEBI_59219 caerulein null http://purl.obolibrary.org/obo/CHEBI_59219 node EFO_0003067 latissimus dorsi null http://www.ebi.ac.uk/efo/EFO_0003067 node EFO_0010685 menopausal or post-menopausal disease null http://www.ebi.ac.uk/efo/EFO_0010685 node EFO_0007962 polybrominated diphenyl ether measurement null http://www.ebi.ac.uk/efo/EFO_0007962 node CHEBI_64520 phosphatidylcholine 36:4 null http://purl.obolibrary.org/obo/CHEBI_64520 node Orphanet_314822 Primary renal tubular acidosis null http://www.orpha.net/ORDO/Orphanet_314822 node EFO_0006377 COLO 792 null http://www.ebi.ac.uk/efo/EFO_0006377 node EFO_1001929 selective IgA deficiency disease null http://www.ebi.ac.uk/efo/EFO_1001929 node EFO_0010498 hydroxyproline measurement null http://www.ebi.ac.uk/efo/EFO_0010498 node EFO_0006858 epithelial neoplasm null http://www.ebi.ac.uk/efo/EFO_0006858 node PO_0007098 LP.02 two leaves visible stage null http://purl.obolibrary.org/obo/PO_0007098 node HP_0011499 Mydriasis null http://purl.obolibrary.org/obo/HP_0011499 node Orphanet_183441 Genetic acrokeratoderma null http://www.orpha.net/ORDO/Orphanet_183441 node Orphanet_1487 Cooks syndrome null http://www.orpha.net/ORDO/Orphanet_1487 node EFO_0009342 Measles virus seropositivity null http://www.ebi.ac.uk/efo/EFO_0009342 node MONDO_0021310 malignant tumor of neck null http://purl.obolibrary.org/obo/MONDO_0021310 node EFO_0005188 CCL11 measurement null http://www.ebi.ac.uk/efo/EFO_0005188 node UBERON_0011607 hyomandibular cartilage null http://purl.obolibrary.org/obo/UBERON_0011607 node Orphanet_1885 Isolated ectopia lentis null http://www.orpha.net/ORDO/Orphanet_1885 node Orphanet_2047 Flynn-Aird syndrome null http://www.orpha.net/ORDO/Orphanet_2047 node CHEBI_8776 ranitidine null http://purl.obolibrary.org/obo/CHEBI_8776 node EFO_0010207 UMI barcode offset null http://www.ebi.ac.uk/efo/EFO_0010207 node EFO_0006465 PA-1 null http://www.ebi.ac.uk/efo/EFO_0006465 node EFO_1000531 Skin Sarcoma null http://www.ebi.ac.uk/efo/EFO_1000531 node EFO_0010586 CD40 measurement null http://www.ebi.ac.uk/efo/EFO_0010586 node Orphanet_79483 Phakomatosis cesioflammea null http://www.orpha.net/ORDO/Orphanet_79483 node EFO_0000002 CS57511 null http://www.ebi.ac.uk/efo/EFO_0000002 node EFO_0005276 hydroxy-leucine measurement null http://www.ebi.ac.uk/efo/EFO_0005276 node EFO_0005099 obsolete_stele null http://www.ebi.ac.uk/efo/EFO_0005099 node CHEBI_50842 norflurazon null http://purl.obolibrary.org/obo/CHEBI_50842 node EFO_0004009 segregating inbred strain null http://www.ebi.ac.uk/efo/EFO_0004009 node Orphanet_79271 Sanfilippo syndrome type C null http://www.orpha.net/ORDO/Orphanet_79271 node NCBITaxon_5415 Cryptococcus null http://purl.obolibrary.org/obo/NCBITaxon_5415 node Orphanet_79084 Familial partial lipodystrophy, Köbberling type null http://www.orpha.net/ORDO/Orphanet_79084 node Orphanet_2773 Osteogenesis imperfecta - retinopathy - seizures - intellectual disability null http://www.orpha.net/ORDO/Orphanet_2773 node EFO_0005159 Ws-3 null http://www.ebi.ac.uk/efo/EFO_0005159 node Orphanet_37 Acrodermatitis enteropathica null http://www.orpha.net/ORDO/Orphanet_37 node MONDO_0022687 cerebellar degeneration null http://purl.obolibrary.org/obo/MONDO_0022687 node EFO_0005201 height growth measurement null http://www.ebi.ac.uk/efo/EFO_0005201 node NCBITaxon_86020 Leymus cinereus null http://purl.obolibrary.org/obo/NCBITaxon_86020 node EFO_0008511 metopic craniosynostosis null http://www.ebi.ac.uk/efo/EFO_0008511 node MONDO_0000514 bone squamous cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0000514 node CHEBI_52172 nilotinib null http://purl.obolibrary.org/obo/CHEBI_52172 node EFO_0000311 cancer null http://www.ebi.ac.uk/efo/EFO_0000311 node GO_0043229 intracellular organelle null http://purl.obolibrary.org/obo/GO_0043229 node MONDO_0001898 optic choroid disease null http://purl.obolibrary.org/obo/MONDO_0001898 node Orphanet_79172 Disorder of creatine biosynthesis null http://www.orpha.net/ORDO/Orphanet_79172 node Orphanet_262019 Partial deletion of the long arm of chromosome 3 null http://www.orpha.net/ORDO/Orphanet_262019 node HP_0001744 Splenomegaly null http://purl.obolibrary.org/obo/HP_0001744 node CHEBI_15379 oxygen null http://purl.obolibrary.org/obo/CHEBI_15379 node EFO_0007856 facial height measurement null http://www.ebi.ac.uk/efo/EFO_0007856 node EFO_0009579 postpartum hemorrhage null http://www.ebi.ac.uk/efo/EFO_0009579 node MONDO_0030049 46,xx sex reversal 5 null http://purl.obolibrary.org/obo/MONDO_0030049 node MONDO_0003939 muscle tissue disease null http://purl.obolibrary.org/obo/MONDO_0003939 node Orphanet_973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral null http://www.orpha.net/ORDO/Orphanet_973 node MONDO_0023692 maple syrup urine disease type 1B null http://purl.obolibrary.org/obo/MONDO_0023692 node EFO_0007093 HUES8 null http://www.ebi.ac.uk/efo/EFO_0007093 node HP_0003031 Ulnar bowing Ulnar bowing is usually in the convex posterior direction. http://purl.obolibrary.org/obo/HP_0003031 node CHEBI_4027 cyclophosphamide null http://purl.obolibrary.org/obo/CHEBI_4027 node GO_0044421 extracellular region part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0044421 node MONDO_0000602 autoimmune disease of blood null http://purl.obolibrary.org/obo/MONDO_0000602 node MONDO_0021133 acquired factor XIII deficiency null http://purl.obolibrary.org/obo/MONDO_0021133 node EFO_1000462 Parotid Gland Pleomorphic Adenoma null http://www.ebi.ac.uk/efo/EFO_1000462 node EFO_0004892 Sasang constitutional medicine null http://www.ebi.ac.uk/efo/EFO_0004892 node Orphanet_88993 Esophageal malformation null http://www.orpha.net/ORDO/Orphanet_88993 node Orphanet_99097 Single ventricular septal defect null http://www.orpha.net/ORDO/Orphanet_99097 node Orphanet_251359 Sickle cell - beta-thalassemia disease null http://www.orpha.net/ORDO/Orphanet_251359 node MONDO_0008760 beta-ketothiolase deficiency null http://purl.obolibrary.org/obo/MONDO_0008760 node EFO_0001406 obsolete_extraembryonic tissue null http://www.ebi.ac.uk/efo/EFO_0001406 node CHEBI_34165 16-ketoestradiol null http://purl.obolibrary.org/obo/CHEBI_34165 node MONDO_0000167 Huntington disease and related disorders null http://purl.obolibrary.org/obo/MONDO_0000167 node NCBITaxon_10383 Herpesvirus saimiri (strain 11) null http://purl.obolibrary.org/obo/NCBITaxon_10383 node MONDO_0030700 autoimmune glomerulonephritis null http://purl.obolibrary.org/obo/MONDO_0030700 node CHEBI_38068 antimalarial null http://purl.obolibrary.org/obo/CHEBI_38068 node MONDO_0003473 spinal cord ependymoma null http://purl.obolibrary.org/obo/MONDO_0003473 node EFO_0002146 CROAP5 null http://www.ebi.ac.uk/efo/EFO_0002146 node EFO_0001219 MM1 null http://www.ebi.ac.uk/efo/EFO_0001219 node UBERON_0001160 fundus of stomach null http://purl.obolibrary.org/obo/UBERON_0001160 node Orphanet_371 Glycogen storage disease due to muscle phosphofructokinase deficiency null http://www.orpha.net/ORDO/Orphanet_371 node EFO_1000848 breast cyst null http://www.ebi.ac.uk/efo/EFO_1000848 node EFO_1000550 Splenic Marginal Zone Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000550 node EFO_0009888 trauma complication null http://www.ebi.ac.uk/efo/EFO_0009888 node EFO_0009902 handedness null http://www.ebi.ac.uk/efo/EFO_0009902 node EFO_0007475 Salmonella gastroenteritis null http://www.ebi.ac.uk/efo/EFO_0007475 node EFO_0004980 appendicular lean mass null http://www.ebi.ac.uk/efo/EFO_0004980 node MONDO_0021034 genetic alopecia null http://purl.obolibrary.org/obo/MONDO_0021034 node EFO_0009725 friendship satisfaction measurement null http://www.ebi.ac.uk/efo/EFO_0009725 node UBERON_0001277 intestinal epithelium null http://purl.obolibrary.org/obo/UBERON_0001277 node EFO_0008246 neurogenic locus notch homolog protein 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008246 node MONDO_0033537 combined oxidative phosphorylation deficiency 47 null http://purl.obolibrary.org/obo/MONDO_0033537 node Orphanet_98157 Gonosome structural anomaly null http://www.orpha.net/ORDO/Orphanet_98157 node Orphanet_68364 Hemoglobinopathy null http://www.orpha.net/ORDO/Orphanet_68364 node EFO_0001392 obsolete_subthalamic nucleus null http://www.ebi.ac.uk/efo/EFO_0001392 node EFO_0001187 HepG2 null http://www.ebi.ac.uk/efo/EFO_0001187 node EFO_0002234 MG63 null http://www.ebi.ac.uk/efo/EFO_0002234 node EFO_0001307 larval day 14-20 null http://www.ebi.ac.uk/efo/EFO_0001307 node EFO_0004581 interleukin 18 measurement null http://www.ebi.ac.uk/efo/EFO_0004581 node NCBITaxon_1298 Deinococcus null http://purl.obolibrary.org/obo/NCBITaxon_1298 node NCBITaxon_474186 Enterococcus faecalis OG1RF null http://purl.obolibrary.org/obo/NCBITaxon_474186 node EFO_1000936 femoral neuropathy null http://www.ebi.ac.uk/efo/EFO_1000936 node UBERON_0001359 cerebrospinal fluid null http://purl.obolibrary.org/obo/UBERON_0001359 node Orphanet_3434 MMEP syndrome null http://www.orpha.net/ORDO/Orphanet_3434 node MONDO_0044792 large congenital melanocytic nevus Editor note: check if LCMN needs separated from CMN http://purl.obolibrary.org/obo/MONDO_0044792 node EFO_0009813 disease characteristic null http://www.ebi.ac.uk/efo/EFO_0009813 node EFO_0003887 obsolete_thrombophlebitis null http://www.ebi.ac.uk/efo/EFO_0003887 node EFO_1000197 Colorectal Sessile Serrated Adenoma/Polyp null http://www.ebi.ac.uk/efo/EFO_1000197 node CHEBI_64111 GR 127935 hydrochloride null http://purl.obolibrary.org/obo/CHEBI_64111 node EFO_1000678 cholesteatoma of middle ear null http://www.ebi.ac.uk/efo/EFO_1000678 node EFO_0010775 colony stimulating factor 1 measurement null http://www.ebi.ac.uk/efo/EFO_0010775 node EFO_0008091 complement C1s subcomponent measurement null http://www.ebi.ac.uk/efo/EFO_0008091 node EFO_0007164 Balkan nephropathy null http://www.ebi.ac.uk/efo/EFO_0007164 node CHEBI_52289 wortmannin null http://purl.obolibrary.org/obo/CHEBI_52289 node Orphanet_289494 Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism null http://www.orpha.net/ORDO/Orphanet_289494 node EFO_0003084 round cell liposarcoma null http://www.ebi.ac.uk/efo/EFO_0003084 node NCBITaxon_4762 Oomycetes null http://purl.obolibrary.org/obo/NCBITaxon_4762 node Orphanet_217031 Obesity due to MC3R deficiency null http://www.orpha.net/ORDO/Orphanet_217031 node EFO_0002720 L3 larva null http://www.ebi.ac.uk/efo/EFO_0002720 node CHEBI_42588 4-hydroxyphenyl retinamide null http://purl.obolibrary.org/obo/CHEBI_42588 node EFO_1001941 bronchioloalveolar carcinoma null http://www.ebi.ac.uk/efo/EFO_1001941 node EFO_1001764 Birnaviridae Infections null http://www.ebi.ac.uk/efo/EFO_1001764 node HP_0000400 Macrotia This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used. http://purl.obolibrary.org/obo/HP_0000400 node Orphanet_587 Muir-Torre syndrome null http://www.orpha.net/ORDO/Orphanet_587 node EFO_0000393 Robertsonian translocation null http://www.ebi.ac.uk/efo/EFO_0000393 node EFO_1000285 Granular Cell Tumor of the Neurohypophysis null http://www.ebi.ac.uk/efo/EFO_1000285 node CHEBI_3755 clomipramine hydrochloride null http://purl.obolibrary.org/obo/CHEBI_3755 node EFO_1001074 optic papillitis null http://www.ebi.ac.uk/efo/EFO_1001074 node EFO_1000766 skin atrophy null http://www.ebi.ac.uk/efo/EFO_1000766 node EFO_0003788 gene expression protocol null http://www.ebi.ac.uk/efo/EFO_0003788 node HP_0001655 Patent foramen ovale The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut. http://purl.obolibrary.org/obo/HP_0001655 node EFO_0010382 phosphatidylcholine 36:4 measurement null http://www.ebi.ac.uk/efo/EFO_0010382 node MONDO_0020653 vaginal adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0020653 node EFO_0010863 HG03060 null http://www.ebi.ac.uk/efo/EFO_0010863 node EFO_0007252 endodermal sinus tumor null http://www.ebi.ac.uk/efo/EFO_0007252 node EFO_0005348 GM18526 null http://www.ebi.ac.uk/efo/EFO_0005348 node NCBITaxon_296591 Polaromonas sp. JS666 null http://purl.obolibrary.org/obo/NCBITaxon_296591 node CLO_0013938 GM17142 null http://purl.obolibrary.org/obo/CLO_0013938 node Orphanet_93441 Primary bone dysplasia with multiple joint dislocations null http://www.orpha.net/ORDO/Orphanet_93441 node EFO_0005756 skin wound null http://www.ebi.ac.uk/efo/EFO_0005756 node EFO_0000458 obsolete_embryonic frontal ganglion null http://www.ebi.ac.uk/efo/EFO_0000458 node EFO_0004829 response to irinotecan null http://www.ebi.ac.uk/efo/EFO_0004829 node Orphanet_194 Ocular coloboma Editor note: todo merge http://www.orpha.net/ORDO/Orphanet_194 node EFO_1001139 pulpitis null http://www.ebi.ac.uk/efo/EFO_1001139 node EFO_0000939 obsolete_sensillum null http://www.ebi.ac.uk/efo/EFO_0000939 node EFO_1000373 Metanephric Adenoma null http://www.ebi.ac.uk/efo/EFO_1000373 node CL_0000982 IgG plasmablast null http://purl.obolibrary.org/obo/CL_0000982 node EFO_0000500 ganglioneuroma null http://www.ebi.ac.uk/efo/EFO_0000500 node UBERON_0001911 mammary gland null http://purl.obolibrary.org/obo/UBERON_0001911 node EFO_0005569 microphthalmia null http://www.ebi.ac.uk/efo/EFO_0005569 node HP_0002509 Limb hypertonia null http://purl.obolibrary.org/obo/HP_0002509 node EFO_0005130 thyroxine measurement null http://www.ebi.ac.uk/efo/EFO_0005130 node EFO_0009033 Combined oxidative phosphorylation defect type 23 null http://www.ebi.ac.uk/efo/EFO_0009033 node CL_0000163 endocrine cell null http://purl.obolibrary.org/obo/CL_0000163 node CHEBI_45783 imatinib null http://purl.obolibrary.org/obo/CHEBI_45783 node EFO_0000082 CS57740 null http://www.ebi.ac.uk/efo/EFO_0000082 node CHEBI_3901 cosyntropin null http://purl.obolibrary.org/obo/CHEBI_3901 node EFO_0000546 injury null http://www.ebi.ac.uk/efo/EFO_0000546 node EFO_1001227 ureterocele null http://www.ebi.ac.uk/efo/EFO_1001227 node CL_0000384 ligament cell null http://purl.obolibrary.org/obo/CL_0000384 node CHEBI_85755 triacylglycerol 58:7 null http://purl.obolibrary.org/obo/CHEBI_85755 node MONDO_0018215 paraneoplastic neurologic syndrome null http://purl.obolibrary.org/obo/MONDO_0018215 node CL_0000865 gastrointestinal tract (lamina propria) macrophage null http://purl.obolibrary.org/obo/CL_0000865 node EFO_0005657 response to protease inhibitor null http://www.ebi.ac.uk/efo/EFO_0005657 node EFO_0009121 blood draw null http://www.ebi.ac.uk/efo/EFO_0009121 node EFO_0000170 obsolete_DEL cells null http://www.ebi.ac.uk/efo/EFO_0000170 node EFO_0006719 mesonephric adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0006719 node CL_0000953 preBCR-negative large pre-B-II cell null http://purl.obolibrary.org/obo/CL_0000953 node HP_0000581 Blepharophimosis When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Blepharophimosis is an acknowledged bundled term (short vertical and horizontal distance). When palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Ptosis is the term to be used when the reduction in eyelid opening is not fixed but can be increased actively or passively. Blepharophimosis is often associated with Epicanthus inversus. http://purl.obolibrary.org/obo/HP_0000581 node CHEBI_27026 toxin null http://purl.obolibrary.org/obo/CHEBI_27026 node NCBITaxon_373153 Streptococcus pneumoniae D39 null http://purl.obolibrary.org/obo/NCBITaxon_373153 node HP_0007328 Impaired pain sensation null http://purl.obolibrary.org/obo/HP_0007328 node EFO_0004103 obsolete_seq file type null http://www.ebi.ac.uk/efo/EFO_0004103 node NCBITaxon_6759 Carcinus maenas null http://purl.obolibrary.org/obo/NCBITaxon_6759 node MONDO_0020010 infectious disease of the nervous system null http://purl.obolibrary.org/obo/MONDO_0020010 node CL_0002050 Fraction C' precursor B cell null http://purl.obolibrary.org/obo/CL_0002050 node Orphanet_206583 Adult polyglucosan body disease null http://www.orpha.net/ORDO/Orphanet_206583 node EFO_0007911 personality trait measurement null http://www.ebi.ac.uk/efo/EFO_0007911 node CLO_0014416 GM17246 null http://purl.obolibrary.org/obo/CLO_0014416 node Orphanet_329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis null http://www.orpha.net/ORDO/Orphanet_329903 node EFO_0005827 ML-DmD20-c2 null http://www.ebi.ac.uk/efo/EFO_0005827 node CL_0000560 band form neutrophil Found in the Band 1 fraction. http://purl.obolibrary.org/obo/CL_0000560 node Orphanet_33445 Neuroectodermal melanolysosomal disease null http://www.orpha.net/ORDO/Orphanet_33445 node EFO_0007547 Wissler's syndrome null http://www.ebi.ac.uk/efo/EFO_0007547 node Orphanet_289899 Organic aciduria null http://www.orpha.net/ORDO/Orphanet_289899 node Orphanet_79273 Hereditary coproporphyria null http://www.orpha.net/ORDO/Orphanet_79273 node Orphanet_99842 Leukocyte adhesion deficiency type I null http://www.orpha.net/ORDO/Orphanet_99842 node EFO_0005915 WW6 null http://www.ebi.ac.uk/efo/EFO_0005915 node EFO_0008761 HELP-Seq null http://www.ebi.ac.uk/efo/EFO_0008761 node CLO_0027491 GM15216 null http://purl.obolibrary.org/obo/CLO_0027491 node Orphanet_254854 Pure mitochondrial myopathy null http://www.orpha.net/ORDO/Orphanet_254854 node EFO_0007635 concentration dose ratio null http://www.ebi.ac.uk/efo/EFO_0007635 node Orphanet_65282 Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome null http://www.orpha.net/ORDO/Orphanet_65282 node EFO_0008397 response to disappointment null http://www.ebi.ac.uk/efo/EFO_0008397 node NCBITaxon_61235 Fusarium equiseti null http://purl.obolibrary.org/obo/NCBITaxon_61235 node EFO_0008960 TAIL-seq null http://www.ebi.ac.uk/efo/EFO_0008960 node Orphanet_79174 Disorder of fatty acid oxidation and ketone body metabolism null http://www.orpha.net/ORDO/Orphanet_79174 node EFO_0001093 BT474 null http://www.ebi.ac.uk/efo/EFO_0001093 node CHEBI_28340 L-2-aminobutyrate null http://purl.obolibrary.org/obo/CHEBI_28340 node EFO_0002972 ILSXISS3/TejJ null http://www.ebi.ac.uk/efo/EFO_0002972 node Orphanet_34520 Congenital muscular dystrophy with integrin alpha-7 deficiency null http://www.orpha.net/ORDO/Orphanet_34520 node CLO_0015117 GM17122 null http://purl.obolibrary.org/obo/CLO_0015117 node EFO_0008662 BruChase-Seq null http://www.ebi.ac.uk/efo/EFO_0008662 node NCBITaxon_476074 Onthophagus nigriventris null http://purl.obolibrary.org/obo/NCBITaxon_476074 node EFO_0000863 obsolete_hatching gland null http://www.ebi.ac.uk/efo/EFO_0000863 node EFO_0006302 Swiss8 null http://www.ebi.ac.uk/efo/EFO_0006302 node Orphanet_79320 ALG6-CDG null http://www.orpha.net/ORDO/Orphanet_79320 node MONDO_0015183 short bowel syndrome null http://purl.obolibrary.org/obo/MONDO_0015183 node NCBITaxon_11320 Influenza A virus null http://purl.obolibrary.org/obo/NCBITaxon_11320 node UBERON_0003884 CA4 field of hippocampus null http://purl.obolibrary.org/obo/UBERON_0003884 node HP_0004364 Abnormal circulating nitrogen compound concentration Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine. http://purl.obolibrary.org/obo/HP_0004364 node NCBITaxon_3689 Populus null http://purl.obolibrary.org/obo/NCBITaxon_3689 node Orphanet_664 Ornithine transcarbamylase deficiency null http://www.orpha.net/ORDO/Orphanet_664 node EFO_0004841 digit length ratio null http://www.ebi.ac.uk/efo/EFO_0004841 node CHEBI_49096 3-aminoisobutyrate null http://purl.obolibrary.org/obo/CHEBI_49096 node EFO_0000951 obsolete_paired fin skeleton null http://www.ebi.ac.uk/efo/EFO_0000951 node EFO_0001943 obsolete_thigh null http://www.ebi.ac.uk/efo/EFO_0001943 node EFO_1001479 Tumor Lysis Syndrome null http://www.ebi.ac.uk/efo/EFO_1001479 node CLO_0031257 GM14440 null http://purl.obolibrary.org/obo/CLO_0031257 node EFO_0004583 obsolete_alanine transaminase measurement null http://www.ebi.ac.uk/efo/EFO_0004583 node Orphanet_401815 Autosomal recessive spastic paraplegia type 66 null http://www.orpha.net/ORDO/Orphanet_401815 node EFO_0008606 pemphigus herpetiformis null http://www.ebi.ac.uk/efo/EFO_0008606 node CHEBI_70959 3-methylhistidine null http://purl.obolibrary.org/obo/CHEBI_70959 node EFO_0003479 obsolete_pronephric mesoderm null http://www.ebi.ac.uk/efo/EFO_0003479 node MONDO_0032926 sandestig-stefanova syndrome null http://purl.obolibrary.org/obo/MONDO_0032926 node CLO_0014896 GM17102 null http://purl.obolibrary.org/obo/CLO_0014896 node EFO_0010073 number of teeth measurement null http://www.ebi.ac.uk/efo/EFO_0010073 node EFO_0008429 IgG disialylation measurement null http://www.ebi.ac.uk/efo/EFO_0008429 node EFO_0001142 GM12234 null http://www.ebi.ac.uk/efo/EFO_0001142 node Orphanet_752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency null http://www.orpha.net/ORDO/Orphanet_752 node Orphanet_1460 Isolated CoQ-cytochrome C reductase deficiency Editor note: check this; isolated in ORDO http://www.orpha.net/ORDO/Orphanet_1460 node EFO_0004742 renal system measurement null http://www.ebi.ac.uk/efo/EFO_0004742 node Orphanet_314918 Mild Canavan disease null http://www.orpha.net/ORDO/Orphanet_314918 node EFO_0008213 low molecular weight phosphotyrosine protein phosphatase measurement null http://www.ebi.ac.uk/efo/EFO_0008213 node EFO_0008008 lower urinary tract symptom null http://www.ebi.ac.uk/efo/EFO_0008008 node Orphanet_100993 Autosomal dominant spastic paraplegia type 12 null http://www.orpha.net/ORDO/Orphanet_100993 node EFO_0003086 kidney disease null http://www.ebi.ac.uk/efo/EFO_0003086 node EFO_0003100 peripheral neuropathy Editor note: NCIT draws a distinction between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20 http://www.ebi.ac.uk/efo/EFO_0003100 node CHEBI_17883 hydrochloric acid null http://purl.obolibrary.org/obo/CHEBI_17883 node EFO_0003567 obsolete_basal plate midbrain region null http://www.ebi.ac.uk/efo/EFO_0003567 node UBERON_0001700 geniculate ganglion null http://purl.obolibrary.org/obo/UBERON_0001700 node EFO_0010161 carbonic anhydrase 2 null http://www.ebi.ac.uk/efo/EFO_0010161 node CLO_0014340 GM17234 null http://purl.obolibrary.org/obo/CLO_0014340 node NCBITaxon_3702 Arabidopsis thaliana null http://purl.obolibrary.org/obo/NCBITaxon_3702 node Orphanet_90024 Deafness with labyrinthine aplasia, microtia, and microdontia null http://www.orpha.net/ORDO/Orphanet_90024 node HANCESTRO_0009 East Asian null http://purl.obolibrary.org/obo/HANCESTRO_0009 node Orphanet_231222 Beta-thalassemia intermedia null http://www.orpha.net/ORDO/Orphanet_231222 node EFO_1000146 Breast Mucosa-Associated Lymphoid Tissue Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000146 node EFO_1000627 thyroid disease null http://www.ebi.ac.uk/efo/EFO_1000627 node EFO_0003649 obsolete_lateral floor plate null http://www.ebi.ac.uk/efo/EFO_0003649 node CHEBI_64517 phosphatidylcholine 34:1 null http://purl.obolibrary.org/obo/CHEBI_64517 node Orphanet_3101 Richieri Costa-da Silva syndrome null http://www.orpha.net/ORDO/Orphanet_3101 node EFO_0010724 lifestyle measurement null http://www.ebi.ac.uk/efo/EFO_0010724 node Orphanet_183438 Genetic erythrokeratoderma null http://www.orpha.net/ORDO/Orphanet_183438 node MONDO_0021392 polyp of large intestine null http://purl.obolibrary.org/obo/MONDO_0021392 node EFO_0000116 CS57779 null http://www.ebi.ac.uk/efo/EFO_0000116 node EFO_0003011 ILSXISS122/TejJ null http://www.ebi.ac.uk/efo/EFO_0003011 node Orphanet_98591 Mesenchymatous palpebral tumor null http://www.orpha.net/ORDO/Orphanet_98591 node EFO_0005132 5-HIAA measurement null http://www.ebi.ac.uk/efo/EFO_0005132 node EFO_1000234 Endometrial Hyperplasia without Atypia null http://www.ebi.ac.uk/efo/EFO_1000234 node Orphanet_10 48,XXYY syndrome null http://www.orpha.net/ORDO/Orphanet_10 node Orphanet_99022 Niemann-Pick disease type E null http://www.orpha.net/ORDO/Orphanet_99022 node EFO_0003737 RNA-seq of non coding RNA null http://www.ebi.ac.uk/efo/EFO_0003737 node EFO_0010331 superior temporal gyrus volume measurement null http://www.ebi.ac.uk/efo/EFO_0010331 node MONDO_0037807 glycerol metabolism disease null http://purl.obolibrary.org/obo/MONDO_0037807 node EFO_0006583 HNT-34 null http://www.ebi.ac.uk/efo/EFO_0006583 node EFO_0010812 T-cell immunoglobulin and mucin domain 1 measurement null http://www.ebi.ac.uk/efo/EFO_0010812 node MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease null http://purl.obolibrary.org/obo/MONDO_0017035 node CHEBI_45441 N-acetyl-L-serine null http://purl.obolibrary.org/obo/CHEBI_45441 node NCBITaxon_5932 Ichthyophthirius multifiliis null http://purl.obolibrary.org/obo/NCBITaxon_5932 node PO_0006338 embryo leaf null http://purl.obolibrary.org/obo/PO_0006338 node EFO_1000528 obsolete_Sinus Histiocytosis with Massive Lymphadenopathy null http://www.ebi.ac.uk/efo/EFO_1000528 node Orphanet_401986 1p31p32 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_401986 node EFO_0000084 CS57743 null http://www.ebi.ac.uk/efo/EFO_0000084 node CL_0002455 CD8_alpha-negative plasmactyoid dendritic cell null http://purl.obolibrary.org/obo/CL_0002455 node EFO_0010625 xaa‐pro aminopeptidase 2 measurement null http://www.ebi.ac.uk/efo/EFO_0010625 node EFO_0006782 cups of coffee per day measurement null http://www.ebi.ac.uk/efo/EFO_0006782 node NCBITaxon_85963 Helicobacter pylori J99 null http://purl.obolibrary.org/obo/NCBITaxon_85963 node CLO_0016527 GM17841 null http://purl.obolibrary.org/obo/CLO_0016527 node Orphanet_85336 X-linked neurodegenerative syndrome, Hamel type null http://www.orpha.net/ORDO/Orphanet_85336 node CHEBI_37537 phorbol 13-acetate 12-myristate null http://purl.obolibrary.org/obo/CHEBI_37537 node Orphanet_1309 Medullary sponge kidney null http://www.orpha.net/ORDO/Orphanet_1309 node MONDO_0100069 hearing impairment and infertile male syndrome There appear to be two distinct diseases that segregate with autosomal recessive variants. AR variants in CDC14A segregate in at least two families with nonsyndromic hearing loss in which affected males have fathered children (PMID:29293958). Additionally, there are at least five families that segregate with AR variants in CDC14A in which affected females have nonsyndromic hearing loss and affected males have hearing loss and infertility (PMID:29293958). http://purl.obolibrary.org/obo/MONDO_0100069 node EFO_0005220 pulmonary neuroendocrine tumor null http://www.ebi.ac.uk/efo/EFO_0005220 node EFO_1000322 Liver Cavernous Hemangioma null http://www.ebi.ac.uk/efo/EFO_1000322 node EFO_0005518 sample collection protocol null http://www.ebi.ac.uk/efo/EFO_0005518 node Orphanet_401780 Autosomal recessive spastic paraplegia type 61 null http://www.orpha.net/ORDO/Orphanet_401780 node Orphanet_2957 Guttmacher syndrome null http://www.orpha.net/ORDO/Orphanet_2957 node Orphanet_228003 Severe combined immunodeficiency due to CORO1A deficiency null http://www.orpha.net/ORDO/Orphanet_228003 node BFO_0000020 material property null http://purl.obolibrary.org/obo/BFO_0000020 node EFO_0006671 NCI-H209 null http://www.ebi.ac.uk/efo/EFO_0006671 node NCBITaxon_233779 Spea bombifrons null http://purl.obolibrary.org/obo/NCBITaxon_233779 node Orphanet_2020 Congenital fiber-type disproportion myopathy null http://www.orpha.net/ORDO/Orphanet_2020 node EFO_0006870 alpha wave measurement null http://www.ebi.ac.uk/efo/EFO_0006870 node FBbt_00005668 embryonic frontal ganglion The term parapharyngeal ganglion was previously used to designate the embryonic frontal ganglion (Campos-Ortega and Hartenstein, 1997). http://purl.obolibrary.org/obo/FBbt_00005668 node EFO_0005606 family history of breast cancer null http://www.ebi.ac.uk/efo/EFO_0005606 node Orphanet_227976 Autosomal recessive optic atrophy, OPA7 type null http://www.orpha.net/ORDO/Orphanet_227976 node CLO_0027182 GM15324 null http://purl.obolibrary.org/obo/CLO_0027182 node MONDO_0008856 immunodeficiency 27A null http://purl.obolibrary.org/obo/MONDO_0008856 node HP_0000975 Hyperhidrosis Ther terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. http://purl.obolibrary.org/obo/HP_0000975 node EFO_0005419 contrast sensitivity measurement null http://www.ebi.ac.uk/efo/EFO_0005419 node Orphanet_3095 Atypical Rett syndrome null http://www.orpha.net/ORDO/Orphanet_3095 node NCBITaxon_381666 Ralstonia eutropha H16 null http://purl.obolibrary.org/obo/NCBITaxon_381666 node PO_0009011 plant structure Part' includes both proper parts and the whole plant. CARO:0000003 anatomical structure is defined as: Material anatomical entity that has inherent 3D shape and is generated by coordinated expression of the organism's own genome. http://purl.obolibrary.org/obo/PO_0009011 node SO_0000274 snRNA null http://purl.obolibrary.org/obo/SO_0000274 node MONDO_0003424 oncocytic adenoma null http://purl.obolibrary.org/obo/MONDO_0003424 node EFO_0008979 Tuba-seq null http://www.ebi.ac.uk/efo/EFO_0008979 node NCBITaxon_31285 Trypanosoma brucei gambiense null http://purl.obolibrary.org/obo/NCBITaxon_31285 node Orphanet_293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome null http://www.orpha.net/ORDO/Orphanet_293864 node EFO_1002004 drug hypersensitivity syndrome null http://www.ebi.ac.uk/efo/EFO_1002004 node HP_0012232 Shortened QT interval null http://purl.obolibrary.org/obo/HP_0012232 node HP_0002756 Pathologic fracture null http://purl.obolibrary.org/obo/HP_0002756 node EFO_0009839 bradypnea null http://www.ebi.ac.uk/efo/EFO_0009839 node HP_0000343 Long philtrum null http://purl.obolibrary.org/obo/HP_0000343 node NCBITaxon_7243 Drosophila teissieri null http://purl.obolibrary.org/obo/NCBITaxon_7243 node NCBITaxon_7038 Bemisia tabaci null http://purl.obolibrary.org/obo/NCBITaxon_7038 node EFO_0009149 muscular dystrophy, congenital, with cataracts and intellectual disability null http://www.ebi.ac.uk/efo/EFO_0009149 node Orphanet_3202 Dehydrated hereditary stomatocytosis null http://www.orpha.net/ORDO/Orphanet_3202 node EFO_0008763 Hi-SCL null http://www.ebi.ac.uk/efo/EFO_0008763 node MONDO_0020596 mucin-producing carcinoma null http://purl.obolibrary.org/obo/MONDO_0020596 node NCBITaxon_1599 Lactobacillus sakei null http://purl.obolibrary.org/obo/NCBITaxon_1599 node MONDO_0002465 bronchiolitis (disease) null http://purl.obolibrary.org/obo/MONDO_0002465 node EFO_0001962 obsolete_brain stem null http://www.ebi.ac.uk/efo/EFO_0001962 node MONDO_0003512 mediastinal mesenchymal tumor null http://purl.obolibrary.org/obo/MONDO_0003512 node EFO_0008576 Spinal Osteochondrosis null http://www.ebi.ac.uk/efo/EFO_0008576 node EFO_0002751 benign null http://www.ebi.ac.uk/efo/EFO_0002751 node MONDO_0100116 Middle East respiratory syndrome null http://purl.obolibrary.org/obo/MONDO_0100116 node MONDO_0002278 benign colon neoplasm null http://purl.obolibrary.org/obo/MONDO_0002278 node EFO_0008399 mean fractional anisotropy measurement null http://www.ebi.ac.uk/efo/EFO_0008399 node HP_0000431 Wide nasal bridge Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately. http://purl.obolibrary.org/obo/HP_0000431 node EFO_0001389 obsolete_lacrimal gland null http://www.ebi.ac.uk/efo/EFO_0001389 node MONDO_0013279 long QT syndrome 13 null http://purl.obolibrary.org/obo/MONDO_0013279 node Orphanet_560 Marshall syndrome null http://www.orpha.net/ORDO/Orphanet_560 node EFO_0008664 BruUV-Seq null http://www.ebi.ac.uk/efo/EFO_0008664 node UO_0000014 candela null http://purl.obolibrary.org/obo/UO_0000014 node MONDO_0044976 disease of catalytic activity null http://purl.obolibrary.org/obo/MONDO_0044976 node EFO_0000666 portal hypertension null http://www.ebi.ac.uk/efo/EFO_0000666 node Orphanet_357043 Amyotrophic lateral sclerosis type 4 null http://www.orpha.net/ORDO/Orphanet_357043 node MONDO_0002366 autonomic nervous system neoplasm null http://purl.obolibrary.org/obo/MONDO_0002366 node EFO_0000489 extra-adrenal sympathetic paraganglioma Editor note: DO classifies as cancer but we treat as neutral http://www.ebi.ac.uk/efo/EFO_0000489 node EFO_0007020 AR-C124910XX measurement null http://www.ebi.ac.uk/efo/EFO_0007020 node Orphanet_99169 Epiblepharon null http://www.orpha.net/ORDO/Orphanet_99169 node EFO_0008275 S-formylglutathione hydrolase measurement null http://www.ebi.ac.uk/efo/EFO_0008275 node EFO_0003926 neuropsychological test null http://www.ebi.ac.uk/efo/EFO_0003926 node EFO_0008088 collectin-11 measurement null http://www.ebi.ac.uk/efo/EFO_0008088 node CHEBI_27999 tolbutamide null http://purl.obolibrary.org/obo/CHEBI_27999 node Orphanet_1175 X-linked progressive cerebellar ataxia null http://www.orpha.net/ORDO/Orphanet_1175 node MONDO_0054865 encephalopathy due to mitochondrial and peroxisomal fission defect null http://purl.obolibrary.org/obo/MONDO_0054865 node CHEBI_2453 acyclovir null http://purl.obolibrary.org/obo/CHEBI_2453 node Orphanet_238744 Mammary-digital-nail syndrome null http://www.orpha.net/ORDO/Orphanet_238744 node EFO_0005688 NHDL cholesterol null http://www.ebi.ac.uk/efo/EFO_0005688 node Orphanet_370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type null http://www.orpha.net/ORDO/Orphanet_370019 node Orphanet_145 Hereditary breast and ovarian cancer syndrome Editor note: https://github.com/monarch-initiative/mondo/issues/84 http://www.orpha.net/ORDO/Orphanet_145 node Orphanet_93178 Partial prune belly syndrome null http://www.orpha.net/ORDO/Orphanet_93178 node EFO_0003809 sample treatment protocol null http://www.ebi.ac.uk/efo/EFO_0003809 node Orphanet_261197 Proximal 16p11.2 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261197 node Orphanet_1877 Muscular dystrophy - white matter spongiosis null http://www.orpha.net/ORDO/Orphanet_1877 node EFO_1000324 Liver Inflammatory Myofibroblastic Tumor null http://www.ebi.ac.uk/efo/EFO_1000324 node CHEBI_17650 cortisol null http://purl.obolibrary.org/obo/CHEBI_17650 node MONDO_0016729 mixed neuronal-glial tumor null http://purl.obolibrary.org/obo/MONDO_0016729 node EFO_0003119 NCI-H1648 null http://www.ebi.ac.uk/efo/EFO_0003119 node EFO_0008176 interleukin 17 receptor B measurement null http://www.ebi.ac.uk/efo/EFO_0008176 node CLO_0014359 GM17228 null http://purl.obolibrary.org/obo/CLO_0014359 node EFO_0010578 complex trait null http://www.ebi.ac.uk/efo/EFO_0010578 node EFO_0002574 obsolete_definitive endoderm null http://www.ebi.ac.uk/efo/EFO_0002574 node UBERON_0009202 vasa recta descending limb null http://purl.obolibrary.org/obo/UBERON_0009202 node CL_0000979 IgG memory B cell null http://purl.obolibrary.org/obo/CL_0000979 node EFO_0010415 triacylglycerol 52:3 measurement null http://www.ebi.ac.uk/efo/EFO_0010415 node UBERON_0004141 heart tube null http://purl.obolibrary.org/obo/UBERON_0004141 node Orphanet_238468 Hypohidrotic ectodermal dysplasia DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic http://www.orpha.net/ORDO/Orphanet_238468 node CL_0000365 animal zygote null http://purl.obolibrary.org/obo/CL_0000365 node MONDO_0018683 acquired ichthyosis null http://purl.obolibrary.org/obo/MONDO_0018683 node HANCESTRO_0575 Yoruban null http://purl.obolibrary.org/obo/HANCESTRO_0575 node MONDO_0004526 mixed endometrial stromal and smooth muscle tumor null http://purl.obolibrary.org/obo/MONDO_0004526 node MONDO_0020529 ACTH-independent Cushing syndrome null http://purl.obolibrary.org/obo/MONDO_0020529 node EFO_0007937 blood protein measurement null http://www.ebi.ac.uk/efo/EFO_0007937 node EFO_0004532 serum gamma-glutamyl transferase measurement null http://www.ebi.ac.uk/efo/EFO_0004532 node CL_0000586 germ cell null http://purl.obolibrary.org/obo/CL_0000586 node EFO_0004355 obsolete_sensation null http://www.ebi.ac.uk/efo/EFO_0004355 node EFO_0003428 obsolete_liver primordium null http://www.ebi.ac.uk/efo/EFO_0003428 node EFO_0010022 Smart-3Seq null http://www.ebi.ac.uk/efo/EFO_0010022 node EFO_0004168 hypomethylated partial restriction digest null http://www.ebi.ac.uk/efo/EFO_0004168 node MONDO_0021698 alcohol-related disorders null http://purl.obolibrary.org/obo/MONDO_0021698 node Orphanet_86821 Lissencephaly type 3 - familial fetal akinesia sequence null http://www.orpha.net/ORDO/Orphanet_86821 node MONDO_0018771 congenital anomaly of ventricular septum null http://purl.obolibrary.org/obo/MONDO_0018771 node UBERON_0002078 right cardiac atrium null http://purl.obolibrary.org/obo/UBERON_0002078 node CHEBI_63965 7-chlorokynurenic acid null http://purl.obolibrary.org/obo/CHEBI_63965 node EFO_0008952 Strand-seq null http://www.ebi.ac.uk/efo/EFO_0008952 node EFO_0004620 vitamin B12 measurement null http://www.ebi.ac.uk/efo/EFO_0004620 node EFO_0002898 gram per meter squared null http://www.ebi.ac.uk/efo/EFO_0002898 node EFO_0007848 apolipoprotein A-IV measurement null http://www.ebi.ac.uk/efo/EFO_0007848 node MONDO_0001705 pure red-cell aplasia null http://purl.obolibrary.org/obo/MONDO_0001705 node BTO_0003264 HL-1 cell null http://purl.obolibrary.org/obo/BTO_0003264 node GO_0005575 cellular component Note that, in addition to forming the root of the cellular component ontology, this term is recommended for use for the annotation of gene products whose cellular component is unknown. Note that when this term is used for annotation, it indicates that no information was available about the cellular component of the gene product annotated as of the date the annotation was made; the evidence code ND, no data, is used to indicate this. http://purl.obolibrary.org/obo/GO_0005575 node EFO_0005382 HepG3 null http://www.ebi.ac.uk/efo/EFO_0005382 node EFO_0010110 ketone body measurement null http://www.ebi.ac.uk/efo/EFO_0010110 node HP_0002300 Mutism null http://purl.obolibrary.org/obo/HP_0002300 node CHEBI_33098 O-nitrotoluene null http://purl.obolibrary.org/obo/CHEBI_33098 node EFO_0004256 neuromyelitis optica null http://www.ebi.ac.uk/efo/EFO_0004256 node MONDO_0019833 pituitary hormone deficiency from tumoral origin Editor note: Orphanet classifies many things under here that violate the true-path rule; for example menigioma http://purl.obolibrary.org/obo/MONDO_0019833 node CHEBI_32599 magnesium sulfate null http://purl.obolibrary.org/obo/CHEBI_32599 node EFO_0006585 Hs 294T null http://www.ebi.ac.uk/efo/EFO_0006585 node UBERON_0003083 trunk neural crest null http://purl.obolibrary.org/obo/UBERON_0003083 node Orphanet_352530 Intellectual disability - obesity - brain malformations - facial dysmorphism null http://www.orpha.net/ORDO/Orphanet_352530 node MONDO_0001334 hypertrichosis of eyelid null http://purl.obolibrary.org/obo/MONDO_0001334 node EFO_0008853 Patch-seq null http://www.ebi.ac.uk/efo/EFO_0008853 node NCBITaxon_4155 Mimulus guttatus null http://purl.obolibrary.org/obo/NCBITaxon_4155 node Orphanet_209932 Cone dystrophy with supernormal rod response null http://www.orpha.net/ORDO/Orphanet_209932 node MONDO_0000761 syndrome caused by partial chromosomal deletion Editor note: this is used in DOID to encompass typically partial deletions http://purl.obolibrary.org/obo/MONDO_0000761 node EFO_0007190 campylobacteriosis null http://www.ebi.ac.uk/efo/EFO_0007190 node CHEBI_32687 piperonylbutoxide null http://purl.obolibrary.org/obo/CHEBI_32687 node MONDO_0022201 has treatment by surgery Editor note: see https://github.com/monarch-initiative/mondo-build/issues/75 http://purl.obolibrary.org/obo/MONDO_0022201 node Orphanet_79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- null http://www.orpha.net/ORDO/Orphanet_79312 node UBERON_2000250 opercle The opercle is usually a large, flat bone that may be partially covered by the posterior region of the preopercle. http://purl.obolibrary.org/obo/UBERON_2000250 node Orphanet_98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature null http://www.orpha.net/ORDO/Orphanet_98353 node EFO_1000991 intracranial embolism null http://www.ebi.ac.uk/efo/EFO_1000991 node MONDO_0001422 primary aldosteronism Editor note: DOID class refers to adenoma-caused Conn syndrome http://purl.obolibrary.org/obo/MONDO_0001422 node MONDO_0007728 acne inversa, familial, 1 null http://purl.obolibrary.org/obo/MONDO_0007728 node Orphanet_68373 Peroxisomal disease null http://www.orpha.net/ORDO/Orphanet_68373 node UBERON_0001871 temporal lobe Boundary notes: It is bounded dorsally by the lateral fissure and posteriorly by an arbitrary border shared with the occipital lobe. [Wikipedia:Temporal_lobe] http://purl.obolibrary.org/obo/UBERON_0001871 node EFO_0009890 lean mass-adjusted fat body mass null http://www.ebi.ac.uk/efo/EFO_0009890 node EFO_0009685 rectal disease null http://www.ebi.ac.uk/efo/EFO_0009685 node Orphanet_401935 14q24.1q24.3 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_401935 node MONDO_0001235 appendix cancer null http://purl.obolibrary.org/obo/MONDO_0001235 node CL_0002404 fetal thymocyte null http://purl.obolibrary.org/obo/CL_0002404 node Orphanet_79400 Localized epidermolysis bullosa simplex null http://www.orpha.net/ORDO/Orphanet_79400 node EFO_0002194 HH null http://www.ebi.ac.uk/efo/EFO_0002194 node Orphanet_2578 MURCS association null http://www.orpha.net/ORDO/Orphanet_2578 node EFO_0001748 genotype design null http://www.ebi.ac.uk/efo/EFO_0001748 node Orphanet_319646 PGM-CDG null http://www.orpha.net/ORDO/Orphanet_319646 node EFO_0009501 CWRU1 null http://www.ebi.ac.uk/efo/EFO_0009501 node Orphanet_79213 Mucopolysaccharidosis null http://www.orpha.net/ORDO/Orphanet_79213 node EFO_1001845 spinal cord compression null http://www.ebi.ac.uk/efo/EFO_1001845 node Orphanet_100012 Lissencephaly with cerebellar hypoplasia type B null http://www.orpha.net/ORDO/Orphanet_100012 node EFO_1000874 commensal Clostridium infectious disease null http://www.ebi.ac.uk/efo/EFO_1000874 node EFO_0009314 blood coagulation disease null http://www.ebi.ac.uk/efo/EFO_0009314 node EFO_0003896 left ventricular hypertrophy null http://www.ebi.ac.uk/efo/EFO_0003896 node EFO_0007520 trichinosis null http://www.ebi.ac.uk/efo/EFO_0007520 node NCBITaxon_121627 Penicillium rugulosum null http://purl.obolibrary.org/obo/NCBITaxon_121627 node EFO_0006416 HCC0012 null http://www.ebi.ac.uk/efo/EFO_0006416 node HP_0000649 Abnormality of visual evoked potentials The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent. http://purl.obolibrary.org/obo/HP_0000649 node Orphanet_98662 Unclassified familial retinal dystrophy null http://www.orpha.net/ORDO/Orphanet_98662 node MONDO_0001528 vulva cancer null http://purl.obolibrary.org/obo/MONDO_0001528 node MONDO_0014175 mitochondrial DNA depletion syndrome 12 null http://purl.obolibrary.org/obo/MONDO_0014175 node Orphanet_965 Acromegaloid facial appearance syndrome null http://www.orpha.net/ORDO/Orphanet_965 node Orphanet_2666 Adult familial nephronophthisis - spastic quadriparesia null http://www.orpha.net/ORDO/Orphanet_2666 node Orphanet_52022 Potocki-Shaffer syndrome null http://www.orpha.net/ORDO/Orphanet_52022 node EFO_1001452 Yellow Nail Syndrome null http://www.ebi.ac.uk/efo/EFO_1001452 node Orphanet_98956 Microcystic corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98956 node MONDO_0004392 intracranial extraskeletal myxoid chondrosarcoma null http://purl.obolibrary.org/obo/MONDO_0004392 node EFO_1001933 adult acute monocytic leukemia null http://www.ebi.ac.uk/efo/EFO_1001933 node MONDO_0008295 sporadic porphyria cutanea tarda Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial http://purl.obolibrary.org/obo/MONDO_0008295 node UBERON_0002356 perineum null http://purl.obolibrary.org/obo/UBERON_0002356 node EFO_0009402 hippocampus fimbria volume null http://www.ebi.ac.uk/efo/EFO_0009402 node Orphanet_319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency null http://www.orpha.net/ORDO/Orphanet_319547 node PO_0025029 shoot axis Often bears leaves and branches. In vascular plants, has at least one node and one internode. http://purl.obolibrary.org/obo/PO_0025029 node Orphanet_268748 Total spina bifida cystica null http://www.orpha.net/ORDO/Orphanet_268748 node Orphanet_79504 Ichthyosis hystrix gravior null http://www.orpha.net/ORDO/Orphanet_79504 node EFO_0002209 HuT78 null http://www.ebi.ac.uk/efo/EFO_0002209 node Orphanet_171871 Renal pseudohypoaldosteronism type 1 null http://www.orpha.net/ORDO/Orphanet_171871 node CLO_0031189 GM14381 null http://purl.obolibrary.org/obo/CLO_0031189 node MONDO_0033967 immune dysregulation with inflammatory bowel disease null http://purl.obolibrary.org/obo/MONDO_0033967 node MONDO_0016692 pilomyxoid astrocytoma null http://purl.obolibrary.org/obo/MONDO_0016692 node EFO_0009003 ovarian dysfunction null http://www.ebi.ac.uk/efo/EFO_0009003 node NCBITaxon_51769 Anemonia viridis null http://purl.obolibrary.org/obo/NCBITaxon_51769 node EFO_1000493 Primary Melanocytic Lesion of Meninges null http://www.ebi.ac.uk/efo/EFO_1000493 node FBbt_00005518 somatic muscle primordium null http://purl.obolibrary.org/obo/FBbt_00005518 node EFO_1001335 Gynatresia null http://www.ebi.ac.uk/efo/EFO_1001335 node EFO_0010590 matrix metalloproteinase 12 measurement null http://www.ebi.ac.uk/efo/EFO_0010590 node EFO_0005765 obsolete_response to haloperidol null http://www.ebi.ac.uk/efo/EFO_0005765 node EFO_0004838 calcium measurement null http://www.ebi.ac.uk/efo/EFO_0004838 node HP_0002705 High, narrow palate null http://purl.obolibrary.org/obo/HP_0002705 node Orphanet_1954 Congenital lethal erythroderma null http://www.orpha.net/ORDO/Orphanet_1954 node EFO_0009717 bilateral oophorectomy null http://www.ebi.ac.uk/efo/EFO_0009717 node EFO_0003401 obsolete_ventral nerve cord primordium null http://www.ebi.ac.uk/efo/EFO_0003401 node EFO_0002177 ES2 null http://www.ebi.ac.uk/efo/EFO_0002177 node Orphanet_306661 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome null http://www.orpha.net/ORDO/Orphanet_306661 node FBbt_00000197 posterior spiracle primordium null http://purl.obolibrary.org/obo/FBbt_00000197 node EFO_0005571 osteochondrodysplasia null http://www.ebi.ac.uk/efo/EFO_0005571 node EFO_1000600 Tracheal Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000600 node EFO_1001423 Shaken Baby Syndrome null http://www.ebi.ac.uk/efo/EFO_1001423 node UBERON_0002051 epithelium of bronchiole null http://purl.obolibrary.org/obo/UBERON_0002051 node EFO_0005853 response to silica exposure null http://www.ebi.ac.uk/efo/EFO_0005853 node MONDO_0016593 acquired ataxia null http://purl.obolibrary.org/obo/MONDO_0016593 node EFO_0004926 M stage null http://www.ebi.ac.uk/efo/EFO_0004926 node PO_0007068 mid rosette growth stage null http://purl.obolibrary.org/obo/PO_0007068 node IAO_0000030 information entity null http://purl.obolibrary.org/obo/IAO_0000030 node CHEBI_85747 triacylglycerol 56:9 null http://purl.obolibrary.org/obo/CHEBI_85747 node MONDO_0015503 nose and cavum anomaly null http://purl.obolibrary.org/obo/MONDO_0015503 node EFO_0006774 WM-266-4 null http://www.ebi.ac.uk/efo/EFO_0006774 node EFO_0010838 GM21515 null http://www.ebi.ac.uk/efo/EFO_0010838 node EFO_0009618 foot fracture null http://www.ebi.ac.uk/efo/EFO_0009618 node MONDO_0020606 sex-linked disease null http://purl.obolibrary.org/obo/MONDO_0020606 node CLO_0030337 GM15072 null http://purl.obolibrary.org/obo/CLO_0030337 node EFO_0007205 Chlamydia trachomatis infectious disease null http://www.ebi.ac.uk/efo/EFO_0007205 node EFO_0002078 S1 null http://www.ebi.ac.uk/efo/EFO_0002078 node CL_0000056 myoblast null http://purl.obolibrary.org/obo/CL_0000056 node EFO_0003710 obsolete_anterior lateral line primordium null http://www.ebi.ac.uk/efo/EFO_0003710 node UBERON_0001111 intercostal muscle null http://purl.obolibrary.org/obo/UBERON_0001111 node CHEBI_36779 sapphyrin null http://purl.obolibrary.org/obo/CHEBI_36779 node EFO_1000501 Pyloric Gland Adenoma null http://www.ebi.ac.uk/efo/EFO_1000501 node NCBITaxon_40127 Neurospora tetrasperma null http://purl.obolibrary.org/obo/NCBITaxon_40127 node EFO_0006862 Meniere disease null http://www.ebi.ac.uk/efo/EFO_0006862 node EFO_1001756 Acrodynia null http://www.ebi.ac.uk/efo/EFO_1001756 node EFO_0006675 NCI-H2172 null http://www.ebi.ac.uk/efo/EFO_0006675 node EFO_0003292 interleukin-2 (Mus musculus) null http://www.ebi.ac.uk/efo/EFO_0003292 node CL_0000138 chondrocyte null http://purl.obolibrary.org/obo/CL_0000138 node CHEBI_17968 butyrate null http://purl.obolibrary.org/obo/CHEBI_17968 node Orphanet_309347 Disorder of protein N-glycosylation null http://www.orpha.net/ORDO/Orphanet_309347 node EFO_0000198 myelodysplastic syndrome null http://www.ebi.ac.uk/efo/EFO_0000198 node MONDO_0001785 malignant secondary hypertension null http://purl.obolibrary.org/obo/MONDO_0001785 node Orphanet_1627 Distal monosomy 5q null http://www.orpha.net/ORDO/Orphanet_1627 node OMIT_0015367 Uridine Diphosphate Galactose null http://purl.obolibrary.org/obo/OMIT_0015367 node CHEBI_49200 EC 3.6.3.10 (H(+)/K(+)-exchanging ATPase) inhibitor null http://purl.obolibrary.org/obo/CHEBI_49200 node Orphanet_254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies null http://www.orpha.net/ORDO/Orphanet_254758 node Orphanet_50810 Microlissencephaly - micromelia null http://www.orpha.net/ORDO/Orphanet_50810 node EFO_0010809 fat intake measurement null http://www.ebi.ac.uk/efo/EFO_0010809 node Orphanet_298644 Disorder of thiamine metabolism and transport null http://www.orpha.net/ORDO/Orphanet_298644 node UBERON_0007293 presumptive rhombomere 6 null http://purl.obolibrary.org/obo/UBERON_0007293 node MONDO_0060752 neurodevelopmental disorder with spasticity and poor growth null http://purl.obolibrary.org/obo/MONDO_0060752 node EFO_0006966 Kindalville ecotype null http://www.ebi.ac.uk/efo/EFO_0006966 node HP_0009087 Posteriorly placed tongue null http://purl.obolibrary.org/obo/HP_0009087 node EFO_0007323 inclusion body myositis null http://www.ebi.ac.uk/efo/EFO_0007323 node Orphanet_268820 Cranial meningocele null http://www.orpha.net/ORDO/Orphanet_268820 node Orphanet_96055 Tetrasomy 21 null http://www.orpha.net/ORDO/Orphanet_96055 node Orphanet_254846 Isolated oxidative phosphorylation complex disorder null http://www.orpha.net/ORDO/Orphanet_254846 node CL_0000928 activated CD4-negative, CD8-negative type I NK T cell null http://purl.obolibrary.org/obo/CL_0000928 node Orphanet_155896 Otomandibular dysplasia null http://www.orpha.net/ORDO/Orphanet_155896 node EFO_0007136 agnosia null http://www.ebi.ac.uk/efo/EFO_0007136 node Orphanet_401777 Optic atrophy-intellectual disability syndrome null http://www.orpha.net/ORDO/Orphanet_401777 node EFO_0009493 paroxysmal tachycardia null http://www.ebi.ac.uk/efo/EFO_0009493 node EFO_0005161 Uk-1 null http://www.ebi.ac.uk/efo/EFO_0005161 node CHEBI_132961 methylsuccinate null http://purl.obolibrary.org/obo/CHEBI_132961 node MONDO_0100108 TPM3-related myopathy The most penetrant phenotype among all of the TPM3-related myopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with TPM3 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum. http://purl.obolibrary.org/obo/MONDO_0100108 node MONDO_0032886 Liang-Wang syndrome null http://purl.obolibrary.org/obo/MONDO_0032886 node CHEBI_37024 2-aminoadipic acid null http://purl.obolibrary.org/obo/CHEBI_37024 node NCBITaxon_482 Neisseria null http://purl.obolibrary.org/obo/NCBITaxon_482 node MONDO_0018926 human prion disease null http://purl.obolibrary.org/obo/MONDO_0018926 node Orphanet_90787 46,XY disorder of sex development due to testicular steroidogenesis defect null http://www.orpha.net/ORDO/Orphanet_90787 node EFO_0007224 coronavirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007224 node EFO_0009581 rehabilitation null http://www.ebi.ac.uk/efo/EFO_0009581 node Orphanet_100070 Progressive non-fluent aphasia null http://www.orpha.net/ORDO/Orphanet_100070 node MONDO_0002358 laryngeal carcinoma null http://purl.obolibrary.org/obo/MONDO_0002358 node EFO_0009394 hippocampal CA1 volume null http://www.ebi.ac.uk/efo/EFO_0009394 node MONDO_0018720 common cystic lymphatic malformation null http://purl.obolibrary.org/obo/MONDO_0018720 node MONDO_0000540 small intestinal neuroendocrine tumor G1 null http://purl.obolibrary.org/obo/MONDO_0000540 node Orphanet_2269 Ichthyosis - alopecia - eclabion - ectropion - intellectual disability null http://www.orpha.net/ORDO/Orphanet_2269 node MONDO_0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract null http://purl.obolibrary.org/obo/MONDO_0018533 node MONDO_0012104 acquired partial lipodystrophy null http://purl.obolibrary.org/obo/MONDO_0012104 node Orphanet_2930 Cronkhite-Canada syndrome null http://www.orpha.net/ORDO/Orphanet_2930 node MONDO_0002579 orbit embryonal rhabdomyosarcoma null http://purl.obolibrary.org/obo/MONDO_0002579 node EFO_0008714 DMS-Seq null http://www.ebi.ac.uk/efo/EFO_0008714 node EFO_0003792 interleukin (Mus musculus) null http://www.ebi.ac.uk/efo/EFO_0003792 node EFO_0003587 obsolete_floor plate rhombomere 6 null http://www.ebi.ac.uk/efo/EFO_0003587 node HP_0000527 Long eyelashes Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes. http://purl.obolibrary.org/obo/HP_0000527 node MONDO_0019277 epidermal appendage anomaly null http://purl.obolibrary.org/obo/MONDO_0019277 node EFO_0001913 obsolete_cervix epithelium null http://www.ebi.ac.uk/efo/EFO_0001913 node Orphanet_248 Autosomal recessive hypohidrotic ectodermal dysplasia null http://www.orpha.net/ORDO/Orphanet_248 node EFO_1001991 pneumonitis Pneumonitis typically refers to non-infectious inflammation, whereas pneumonia refers to infectious http://www.ebi.ac.uk/efo/EFO_1001991 node EFO_0007539 viral hemorrhagic septicemia null http://www.ebi.ac.uk/efo/EFO_0007539 node MA_0000191 hippocampus null http://purl.obolibrary.org/obo/MA_0000191 node EFO_0001223 NIH3T3-L1 null http://www.ebi.ac.uk/efo/EFO_0001223 node EFO_0006280 HPAM1 null http://www.ebi.ac.uk/efo/EFO_0006280 node Orphanet_79280 Alpha-N-acetylgalactosaminidase deficiency type 2 null http://www.orpha.net/ORDO/Orphanet_79280 node Orphanet_52427 Retinitis punctata albescens null http://www.orpha.net/ORDO/Orphanet_52427 node NCBITaxon_70863 Shewanella oneidensis null http://purl.obolibrary.org/obo/NCBITaxon_70863 node EFO_0001046 nectar null http://www.ebi.ac.uk/efo/EFO_0001046 node EFO_0009687 somatoform disorder null http://www.ebi.ac.uk/efo/EFO_0009687 node MONDO_0020798 hypoparathyroidism, familial isolated, 2 null http://purl.obolibrary.org/obo/MONDO_0020798 node EFO_0003393 obsolete_hypopharyngeal sense organ primordium null http://www.ebi.ac.uk/efo/EFO_0003393 node Orphanet_97240 Zebra body myopathy null http://www.orpha.net/ORDO/Orphanet_97240 node Orphanet_469 Hereditary fructose intolerance null http://www.orpha.net/ORDO/Orphanet_469 node NCBITaxon_7091 Bombyx mori null http://purl.obolibrary.org/obo/NCBITaxon_7091 node NCBITaxon_54126 Pristionchus pacificus null http://purl.obolibrary.org/obo/NCBITaxon_54126 node EFO_1000172 cervical squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_1000172 node EFO_0008802 ME-Scan-SVA null http://www.ebi.ac.uk/efo/EFO_0008802 node NCBITaxon_818 Bacteroides thetaiotaomicron null http://purl.obolibrary.org/obo/NCBITaxon_818 node EFO_0003675 obsolete_ventral anterior lateral line ganglion null http://www.ebi.ac.uk/efo/EFO_0003675 node EFO_0002748 obsolete_tail bud null http://www.ebi.ac.uk/efo/EFO_0002748 node Orphanet_1001 2q37 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_1001 node EFO_0001311 pharyngula high-pec null http://www.ebi.ac.uk/efo/EFO_0001311 node NCBITaxon_224914 Brucella melitensis bv. 1 str. 16M null http://purl.obolibrary.org/obo/NCBITaxon_224914 node EFO_0001134 GM12056 null http://www.ebi.ac.uk/efo/EFO_0001134 node Orphanet_307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma null http://www.orpha.net/ORDO/Orphanet_307773 node Orphanet_280071 ALG11-CDG null http://www.orpha.net/ORDO/Orphanet_280071 node EFO_0003481 obsolete_somite 1 null http://www.ebi.ac.uk/efo/EFO_0003481 node FBbt_00000461 embryonic inner optic lobe primordium null http://purl.obolibrary.org/obo/FBbt_00000461 node Orphanet_60 Alpha-1-antitrypsin deficiency null http://www.orpha.net/ORDO/Orphanet_60 node Orphanet_557 Isolated anorectal malformation null http://www.orpha.net/ORDO/Orphanet_557 node GO_1901731 positive regulation of platelet aggregation null http://purl.obolibrary.org/obo/GO_1901731 node Orphanet_100985 Autosomal dominant spastic paraplegia type 4 null http://www.orpha.net/ORDO/Orphanet_100985 node EFO_0009652 neointimal hyperplasia null http://www.ebi.ac.uk/efo/EFO_0009652 node CHEBI_64091 1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride null http://purl.obolibrary.org/obo/CHEBI_64091 node CHEBI_2567 alendronic acid null http://purl.obolibrary.org/obo/CHEBI_2567 node OBI_0000275 analyte role null http://purl.obolibrary.org/obo/OBI_0000275 node GO_0044430 cytoskeletal part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0044430 node NCBITaxon_1919 Streptomyces microflavus null http://purl.obolibrary.org/obo/NCBITaxon_1919 node Orphanet_3454 Intellectual disability-developmental delay-contractures syndrome null http://www.orpha.net/ORDO/Orphanet_3454 node MONDO_0027749 serpinopathy null http://purl.obolibrary.org/obo/MONDO_0027749 node NCBITaxon_166361 Onthophagus taurus null http://purl.obolibrary.org/obo/NCBITaxon_166361 node UBERON_0001385 tibialis anterior null http://purl.obolibrary.org/obo/UBERON_0001385 node EFO_0001415 obsolete_umbilical cord null http://www.ebi.ac.uk/efo/EFO_0001415 node MONDO_0004557 congenital fibrosarcoma null http://purl.obolibrary.org/obo/MONDO_0004557 node EFO_0000855 obsolete_pancreas null http://www.ebi.ac.uk/efo/EFO_0000855 node CL_0000794 CD8-positive, alpha-beta cytotoxic T cell Note that while T cells of this subset are loosely referred to 'cytotoxic T cells,' as many other T cell types, including CD4-positive, alpha-beta T cells and gamma-delta T cells exhibit cytotoxicity in vitro and in vivo. http://purl.obolibrary.org/obo/CL_0000794 node MONDO_0021583 melanocytic skin neoplasm null http://purl.obolibrary.org/obo/MONDO_0021583 node EFO_0009005 premature menopause null http://www.ebi.ac.uk/efo/EFO_0009005 node Orphanet_2615 Nakajo-Nishimura syndrome null http://www.orpha.net/ORDO/Orphanet_2615 node UBERON_0006600 presumptive enteric nervous system null http://purl.obolibrary.org/obo/UBERON_0006600 node EFO_0010529 ribose-5-phosphate measurement null http://www.ebi.ac.uk/efo/EFO_0010529 node NCBITaxon_114524 Saccharomyces kudriavzevii null http://purl.obolibrary.org/obo/NCBITaxon_114524 node EFO_1000906 dry eye syndrome null http://www.ebi.ac.uk/efo/EFO_1000906 node CHEBI_30844 hydroxymalonate(1-) null http://purl.obolibrary.org/obo/CHEBI_30844 node MONDO_0100195 X-linked intellectual disability with hypopituitarism null http://purl.obolibrary.org/obo/MONDO_0100195 node EFO_0004248 male infertility null http://www.ebi.ac.uk/efo/EFO_0004248 node EFO_0002430 primary myelofibrosis null http://www.ebi.ac.uk/efo/EFO_0002430 node CLO_0022101 AG13150 null http://purl.obolibrary.org/obo/CLO_0022101 node EFO_1001143 radial nerve lesion null http://www.ebi.ac.uk/efo/EFO_1001143 node EFO_0000943 obsolete_craniofacial skeleton bone null http://www.ebi.ac.uk/efo/EFO_0000943 node HP_0012194 Episodic hemiplegia null http://purl.obolibrary.org/obo/HP_0012194 node CHEBI_20717 6-deoxotyphasterol null http://purl.obolibrary.org/obo/CHEBI_20717 node Orphanet_85186 Endosteal sclerosis - cerebellar hypoplasia null http://www.orpha.net/ORDO/Orphanet_85186 node Orphanet_166081 Von Willebrand disease type 2 null http://www.orpha.net/ORDO/Orphanet_166081 node EFO_1000039 meningeal tuberculosis null http://www.ebi.ac.uk/efo/EFO_1000039 node EFO_0000756 melanoma null http://www.ebi.ac.uk/efo/EFO_0000756 node MONDO_0011667 maturity-onset diabetes of the young type 4 null http://purl.obolibrary.org/obo/MONDO_0011667 node EFO_0004469 HOMA-B null http://www.ebi.ac.uk/efo/EFO_0004469 node EFO_0010136 urinary pH measurement null http://www.ebi.ac.uk/efo/EFO_0010136 node EFO_0004030 gene trap null http://www.ebi.ac.uk/efo/EFO_0004030 node EFO_0010617 tumor necrosis factor ligand superfamily member 11 measurement null http://www.ebi.ac.uk/efo/EFO_0010617 node Orphanet_1505 Short rib-polydactyly syndrome null http://www.orpha.net/ORDO/Orphanet_1505 node Orphanet_324924 Hereditary periodic fever syndrome null http://www.orpha.net/ORDO/Orphanet_324924 node CLO_0016519 GM17833 null http://purl.obolibrary.org/obo/CLO_0016519 node CHEBI_474180 caspofungin null http://purl.obolibrary.org/obo/CHEBI_474180 node Orphanet_262794 Partial duplication of the short arm of chromosome 16 null http://www.orpha.net/ORDO/Orphanet_262794 node Orphanet_1318 Campomelia, Cumming type null http://www.orpha.net/ORDO/Orphanet_1318 node CHEBI_25812 ozone null http://purl.obolibrary.org/obo/CHEBI_25812 node Orphanet_85274 Syndromic X-linked intellectual disability 7 null http://www.orpha.net/ORDO/Orphanet_85274 node EFO_1001231 uveitis null http://www.ebi.ac.uk/efo/EFO_1001231 node MONDO_0018722 primary lymphedema with associated anomalies null http://purl.obolibrary.org/obo/MONDO_0018722 node EFO_0005098 obsolete_cortical collecting duct null http://www.ebi.ac.uk/efo/EFO_0005098 node Orphanet_324737 SRD5A3-CDG null http://www.orpha.net/ORDO/Orphanet_324737 node EFO_0000363 obsolete_colon carcinoma null http://www.ebi.ac.uk/efo/EFO_0000363 node EFO_0005661 Child Behaviour Checklist assessment null http://www.ebi.ac.uk/efo/EFO_0005661 node EFO_0004529 lipid measurement null http://www.ebi.ac.uk/efo/EFO_0004529 node UBERON_2001281 branchiostegal ray 2 null http://purl.obolibrary.org/obo/UBERON_2001281 node EFO_1000127 Bladder Inflammatory Myofibroblastic Tumor null http://www.ebi.ac.uk/efo/EFO_1000127 node EFO_1001044 mesothelial neoplasm null http://www.ebi.ac.uk/efo/EFO_1001044 node CHEBI_5441 glyburide null http://purl.obolibrary.org/obo/CHEBI_5441 node EFO_0010019 m6A-LAIC-seq null http://www.ebi.ac.uk/efo/EFO_0010019 node MONDO_0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome null http://purl.obolibrary.org/obo/MONDO_0016542 node CLO_0014332 GM17238 null http://purl.obolibrary.org/obo/CLO_0014332 node PO_0007017 sporophyte senescent stage null http://purl.obolibrary.org/obo/PO_0007017 node Orphanet_1406 Charlie M syndrome null http://www.orpha.net/ORDO/Orphanet_1406 node PATO_0000047 sex null http://purl.obolibrary.org/obo/PATO_0000047 node GO_0030659 cytoplasmic vesicle membrane null http://purl.obolibrary.org/obo/GO_0030659 node Orphanet_3473 Zimmermann-Laband syndrome null http://www.orpha.net/ORDO/Orphanet_3473 node EFO_0008949 SSB-Seq null http://www.ebi.ac.uk/efo/EFO_0008949 node EO_0007171 pH regimen null http://purl.obolibrary.org/obo/EO_0007171 node EFO_0006359 624 mel null http://www.ebi.ac.uk/efo/EFO_0006359 node Orphanet_295221 Madelung deformity, unilateral null http://www.orpha.net/ORDO/Orphanet_295221 node NCBITaxon_132919 Rhodococcus jostii null http://purl.obolibrary.org/obo/NCBITaxon_132919 node MONDO_0017370 autoinflammatory syndrome with skin involvement null http://purl.obolibrary.org/obo/MONDO_0017370 node Orphanet_98948 Congenital symblepharon null http://www.orpha.net/ORDO/Orphanet_98948 node MONDO_0000489 diabetic encephalopathy null http://purl.obolibrary.org/obo/MONDO_0000489 node EFO_1001518 heavy metal poisoning null http://www.ebi.ac.uk/efo/EFO_1001518 node EFO_0006624 KPL-4 null http://www.ebi.ac.uk/efo/EFO_0006624 node UBERON_0001985 corneal endothelium null http://purl.obolibrary.org/obo/UBERON_0001985 node MONDO_0024392 anaerobic balanitis null http://purl.obolibrary.org/obo/MONDO_0024392 node EFO_0006447 IPC-298 null http://www.ebi.ac.uk/efo/EFO_0006447 node CL_0002398 Gr1-positive, CD43-positive monocyte null http://purl.obolibrary.org/obo/CL_0002398 node MONDO_0037743 mediastinal soft tissue cancer null http://purl.obolibrary.org/obo/MONDO_0037743 node UBERON_0005253 head mesenchyme null http://purl.obolibrary.org/obo/UBERON_0005253 node Orphanet_2697 Arthrogryposis - renal dysfunction - cholestasis null http://www.orpha.net/ORDO/Orphanet_2697 node EFO_0008568 Sleep Disorder null http://www.ebi.ac.uk/efo/EFO_0008568 node MONDO_0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies null http://purl.obolibrary.org/obo/MONDO_0032888 node MONDO_0002523 cutaneous mucinosis Editor note: consider splitting by location http://purl.obolibrary.org/obo/MONDO_0002523 node Orphanet_98555 Anophthalmia - microphthalmia null http://www.orpha.net/ORDO/Orphanet_98555 node EFO_1000988 intestinal pseudo-obstruction null http://www.ebi.ac.uk/efo/EFO_1000988 node PO_0009109 ear meristem null http://purl.obolibrary.org/obo/PO_0009109 node EFO_0007474 Roseolovirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007474 node UO_0000210 colony forming unit null http://purl.obolibrary.org/obo/UO_0000210 node CHEBI_50091 S-nitrosoglutathione null http://purl.obolibrary.org/obo/CHEBI_50091 node EFO_0007860 ADHD symptom measurement null http://www.ebi.ac.uk/efo/EFO_0007860 node Orphanet_69088 Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema null http://www.orpha.net/ORDO/Orphanet_69088 node UO_0000023 microgram null http://purl.obolibrary.org/obo/UO_0000023 node MONDO_0001083 Fanconi renotubular syndrome null http://purl.obolibrary.org/obo/MONDO_0001083 node EFO_0008656 BisChIP-Seq null http://www.ebi.ac.uk/efo/EFO_0008656 node FBbt_00005675 lateral cord neuron null http://purl.obolibrary.org/obo/FBbt_00005675 node EFO_0001391 obsolete_somatosensory cortex null http://www.ebi.ac.uk/efo/EFO_0001391 node EFO_0007704 depressive episode measurement null http://www.ebi.ac.uk/efo/EFO_0007704 node Orphanet_897 Waardenburg-Shah syndrome null http://www.orpha.net/ORDO/Orphanet_897 node EO_0007203 far red light regimen null http://purl.obolibrary.org/obo/EO_0007203 node Orphanet_99763 Familial hyperreninemic hypoaldosteronism type 1 null http://www.orpha.net/ORDO/Orphanet_99763 node CHEBI_46215 O(4')-sulfo-L-tyrosine null http://purl.obolibrary.org/obo/CHEBI_46215 node UBERON_0007143 right internal carotid artery null http://purl.obolibrary.org/obo/UBERON_0007143 node CLO_0013181 GM17266 null http://purl.obolibrary.org/obo/CLO_0013181 node Orphanet_363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome null http://www.orpha.net/ORDO/Orphanet_363992 node EFO_0010686 muscle strain null http://www.ebi.ac.uk/efo/EFO_0010686 node EFO_1000444 Pancreatic Small Cell Neuroendocrine Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000444 node CHEBI_32111 saccharin null http://purl.obolibrary.org/obo/CHEBI_32111 node EFO_0005879 cholesterol homeostasis null http://www.ebi.ac.uk/efo/EFO_0005879 node EFO_0010499 hyodeoxycholate measurement null http://www.ebi.ac.uk/efo/EFO_0010499 node NCBITaxon_10629 BK polyomavirus null http://purl.obolibrary.org/obo/NCBITaxon_10629 node EFO_0009343 Mumps virus seropositivity null http://www.ebi.ac.uk/efo/EFO_0009343 node EFO_0005189 respiratory quotient null http://www.ebi.ac.uk/efo/EFO_0005189 node Orphanet_2908 Kindler syndrome null http://www.orpha.net/ORDO/Orphanet_2908 node EFO_0003395 obsolete_ring gland null http://www.ebi.ac.uk/efo/EFO_0003395 node MONDO_0004634 vein disease null http://purl.obolibrary.org/obo/MONDO_0004634 node MONDO_0020637 mendelian susceptibility to mycobacterial diseases due to a partial deficiency null http://purl.obolibrary.org/obo/MONDO_0020637 node EFO_0009085 arterial occlusive disease null http://www.ebi.ac.uk/efo/EFO_0009085 node EFO_1000532 small intestinal adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000532 node EFO_0010587 interleukin-2 receptor subunit alpha measurement null http://www.ebi.ac.uk/efo/EFO_0010587 node HP_0010813 Abnormal number of hair whorls Most individuals have one clockwise hair whorl at a single point on the scalp lateral to the midline but close to the vertex of the skull. Five percent of the population has two whorls. A double hair whorl is sometimes referred to as a double crown. In 10%, whorl direction is counter-clockwise. http://purl.obolibrary.org/obo/HP_0010813 node CLO_0031261 GM14448 null http://purl.obolibrary.org/obo/CLO_0031261 node Orphanet_171220 Rectal duplication null http://www.orpha.net/ORDO/Orphanet_171220 node EFO_0003483 obsolete_swim bladder null http://www.ebi.ac.uk/efo/EFO_0003483 node EFO_0004325 blood pressure null http://www.ebi.ac.uk/efo/EFO_0004325 node Orphanet_2306 Isotretinoin-like syndrome null http://www.orpha.net/ORDO/Orphanet_2306 node EFO_0002379 SiHa null http://www.ebi.ac.uk/efo/EFO_0002379 node Orphanet_306658 Normocalcemic tumoral calcinosis null http://www.orpha.net/ORDO/Orphanet_306658 node PO_0020123 root cap Often composed of living and dead parenchyma cells. Protects the root apical meristem. http://purl.obolibrary.org/obo/PO_0020123 node Orphanet_418 Congenital adrenal hyperplasia null http://www.orpha.net/ORDO/Orphanet_418 node EFO_0009173 Illumina NextSeq 500 null http://www.ebi.ac.uk/efo/EFO_0009173 node HP_0002571 Achalasia Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing. http://purl.obolibrary.org/obo/HP_0002571 node Orphanet_371445 Genetic syndromic esophageal malformation null http://www.orpha.net/ORDO/Orphanet_371445 node EFO_0009654 reference sample null http://www.ebi.ac.uk/efo/EFO_0009654 node HP_0000059 Hypoplastic labia majora null http://purl.obolibrary.org/obo/HP_0000059 node Orphanet_141261 Tessier number 5 facial cleft null http://www.orpha.net/ORDO/Orphanet_141261 node HP_0002384 Focal impaired awareness seizure Awareness during a seizure is defined as the person being fully aware of themselves and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. The terms 'complex partial seizure' and 'focal dyscognitive seizure' were previously used to denote a focal impaired awareness seizure. http://purl.obolibrary.org/obo/HP_0002384 node EFO_0008010 [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial measurement null http://www.ebi.ac.uk/efo/EFO_0008010 node UBERON_0001043 esophagus null http://purl.obolibrary.org/obo/UBERON_0001043 node CHEBI_64433 phosphatidylcholine 36:2 null http://purl.obolibrary.org/obo/CHEBI_64433 node Orphanet_247667 Childhood-onset hypophosphatasia null http://www.orpha.net/ORDO/Orphanet_247667 node UBERON_0001507 biceps brachii null http://purl.obolibrary.org/obo/UBERON_0001507 node Orphanet_38 Acrokeratoelastoidosis of Costa null http://www.orpha.net/ORDO/Orphanet_38 node EFO_0003571 obsolete_spinal cord interneuron null http://www.ebi.ac.uk/efo/EFO_0003571 node CHEBI_17802 pseudouridine null http://purl.obolibrary.org/obo/CHEBI_17802 node EFO_0004413 microliter per liter null http://www.ebi.ac.uk/efo/EFO_0004413 node CLO_0014903 GM17107 null http://purl.obolibrary.org/obo/CLO_0014903 node CHEBI_90301 triacylglycerol 50:5 null http://purl.obolibrary.org/obo/CHEBI_90301 node EFO_0004811 interleukin-8 measurement null http://www.ebi.ac.uk/efo/EFO_0004811 node Orphanet_506 Leigh syndrome null http://www.orpha.net/ORDO/Orphanet_506 node EFO_0002702 protein array null http://www.ebi.ac.uk/efo/EFO_0002702 node CLO_0031232 AG08904 null http://purl.obolibrary.org/obo/CLO_0031232 node EFO_0006378 COLO 800 null http://www.ebi.ac.uk/efo/EFO_0006378 node NCBITaxon_287 Pseudomonas aeruginosa null http://purl.obolibrary.org/obo/NCBITaxon_287 node EFO_0000054 CS57658 null http://www.ebi.ac.uk/efo/EFO_0000054 node Orphanet_79396 Epidermolysis bullosa simplex, Dowling-Meara type null http://www.orpha.net/ORDO/Orphanet_79396 node MONDO_0021311 malignant tumor of parathyroid gland null http://purl.obolibrary.org/obo/MONDO_0021311 node Orphanet_284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O null http://www.orpha.net/ORDO/Orphanet_284232 node MONDO_0021134 acquired factor X deficiency null http://purl.obolibrary.org/obo/MONDO_0021134 node Orphanet_397606 Chronic diarrhea with hereditary sensory and autonomic neuropathy null http://www.orpha.net/ORDO/Orphanet_397606 node Orphanet_183663 Hyper-IgM syndrome with susceptibility to opportunistic infections null http://www.orpha.net/ORDO/Orphanet_183663 node NCBITaxon_29291 Methanococcoides burtonii null http://purl.obolibrary.org/obo/NCBITaxon_29291 node CLO_0013092 GM17284 null http://purl.obolibrary.org/obo/CLO_0013092 node EFO_0000617 obsolete_nerve cell null http://www.ebi.ac.uk/efo/EFO_0000617 node EFO_0004032 Drosophile simulans MD106 null http://www.ebi.ac.uk/efo/EFO_0004032 node NCBITaxon_375 Bradyrhizobium japonicum null http://purl.obolibrary.org/obo/NCBITaxon_375 node EFO_0006466 Panc 02.03 null http://www.ebi.ac.uk/efo/EFO_0006466 node EFO_0000142 CS57843 null http://www.ebi.ac.uk/efo/EFO_0000142 node MONDO_0030701 autoimmune cardiomyopathy null http://purl.obolibrary.org/obo/MONDO_0030701 node Orphanet_79484 Phakomatosis cesiomarmorata null http://www.orpha.net/ORDO/Orphanet_79484 node NCBITaxon_386585 Escherichia coli O157:H7 str. Sakai null http://purl.obolibrary.org/obo/NCBITaxon_386585 node PO_0007080 2.03 main shoot and axillary shoots visible at three nodes stage The axillary shoot can be a single shoot or a pair of axillary shoots at each node. http://purl.obolibrary.org/obo/PO_0007080 node Orphanet_108965 Syndromic gastroduodenal malformation null http://www.orpha.net/ORDO/Orphanet_108965 node CLO_0021913 AG09699 null http://purl.obolibrary.org/obo/CLO_0021913 node Orphanet_166108 Intellectual disability, Birk-Barel type null http://www.orpha.net/ORDO/Orphanet_166108 node Orphanet_221016 Rothmund-Thomson syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_221016 node CHEBI_38472 acetonitrile null http://purl.obolibrary.org/obo/CHEBI_38472 node EFO_0000705 spindle cell tumor null http://www.ebi.ac.uk/efo/EFO_0000705 node EFO_0008247 neutral ceramidase measurement null http://www.ebi.ac.uk/efo/EFO_0008247 node Orphanet_1126 Aprosencephaly cerebellar dysgenesis null http://www.orpha.net/ORDO/Orphanet_1126 node Orphanet_268817 Cephalocele null http://www.orpha.net/ORDO/Orphanet_268817 node Orphanet_98158 Chromosome Y structural anomaly null http://www.orpha.net/ORDO/Orphanet_98158 node Orphanet_2774 Multicentric carpo-tarsal osteolysis with or without nephropathy null http://www.orpha.net/ORDO/Orphanet_2774 node MONDO_0014769 inherited oocyte maturation defect null http://purl.obolibrary.org/obo/MONDO_0014769 node EFO_1001209 temporal arteritis null http://www.ebi.ac.uk/efo/EFO_1001209 node NCBITaxon_666 Vibrio cholerae null http://purl.obolibrary.org/obo/NCBITaxon_666 node MONDO_0021739 prurigo null http://purl.obolibrary.org/obo/MONDO_0021739 node NCBITaxon_8839 Anas platyrhynchos null http://purl.obolibrary.org/obo/NCBITaxon_8839 node Orphanet_139583 X-linked hereditary sensory and autonomic neuropathy with deafness null http://www.orpha.net/ORDO/Orphanet_139583 node CL_0000415 diploid cell null http://purl.obolibrary.org/obo/CL_0000415 node MONDO_0000654 benign connective and soft tissue neoplasm null http://purl.obolibrary.org/obo/MONDO_0000654 node NCBITaxon_86021 Leymus triticoides null http://purl.obolibrary.org/obo/NCBITaxon_86021 node EO_0007173 warm/hot temperature regimen null http://purl.obolibrary.org/obo/EO_0007173 node EFO_0000312 cancer site This will be obsoleted in near future. http://www.ebi.ac.uk/efo/EFO_0000312 node EFO_0003888 attention deficit hyperactivity disorder null http://www.ebi.ac.uk/efo/EFO_0003888 node CHEBI_30623 oxalate(2-) null http://purl.obolibrary.org/obo/CHEBI_30623 node EFO_1000198 Colorectal Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000198 node EFO_0005423 adolescent idiopathic scoliosis null http://www.ebi.ac.uk/efo/EFO_0005423 node EFO_1000679 cholinergic urticaria null http://www.ebi.ac.uk/efo/EFO_1000679 node EFO_0008092 complement C4b measurement null http://www.ebi.ac.uk/efo/EFO_0008092 node EFO_0007165 Barre-Lieou syndrome null http://www.ebi.ac.uk/efo/EFO_0007165 node Orphanet_974 Adams-Oliver syndrome null http://www.orpha.net/ORDO/Orphanet_974 node UBERON_0001987 placenta Marsupials possess only a rudimentary yolk-type placenta, with reduced nutrient and oxygen exchanging capabilities. http://purl.obolibrary.org/obo/UBERON_0001987 node EFO_1000463 Parotid Gland Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000463 node CHEBI_24867 monoatomic ion null http://purl.obolibrary.org/obo/CHEBI_24867 node EFO_0004893 testicular dysgenesis syndrome null http://www.ebi.ac.uk/efo/EFO_0004893 node Orphanet_588 Muscle-eye-brain disease null http://www.orpha.net/ORDO/Orphanet_588 node EFO_1000286 Granulocytic Sarcoma null http://www.ebi.ac.uk/efo/EFO_1000286 node EFO_0009843 substance-induced sleep disorder null http://www.ebi.ac.uk/efo/EFO_0009843 node UBERON_0007220 late embryonic stage null http://purl.obolibrary.org/obo/UBERON_0007220 node EFO_0003789 growth protocol null http://www.ebi.ac.uk/efo/EFO_0003789 node MONDO_0020654 renal pelvis/ureter urothelial carcinoma null http://purl.obolibrary.org/obo/MONDO_0020654 node HP_0002573 Hematochezia Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis. http://purl.obolibrary.org/obo/HP_0002573 node HP_0009130 Hand muscle atrophy This term can be used to described bilateral amyotrophy of the musculature of the hand. http://purl.obolibrary.org/obo/HP_0009130 node EFO_0008180 interleukin 19 measurement null http://www.ebi.ac.uk/efo/EFO_0008180 node EFO_0007253 Enoplea infectious disease null http://www.ebi.ac.uk/efo/EFO_0007253 node EFO_0002147 CaHPV10 null http://www.ebi.ac.uk/efo/EFO_0002147 node Orphanet_195 Cat-eye syndrome null http://www.orpha.net/ORDO/Orphanet_195 node MONDO_0100120 vector-borne disease null http://purl.obolibrary.org/obo/MONDO_0100120 node EFO_1000849 bronchial neoplasm null http://www.ebi.ac.uk/efo/EFO_1000849 node EFO_1000551 Stromal Predominant Kidney Wilms Tumor null http://www.ebi.ac.uk/efo/EFO_1000551 node EFO_0007476 sarcocystosis null http://www.ebi.ac.uk/efo/EFO_0007476 node NCBITaxon_216816 Bifidobacterium longum null http://purl.obolibrary.org/obo/NCBITaxon_216816 node UBERON_6005054 spiracle null http://purl.obolibrary.org/obo/UBERON_6005054 node EFO_0004981 peridontal microbiome null http://www.ebi.ac.uk/efo/EFO_0004981 node Orphanet_319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency null http://www.orpha.net/ORDO/Orphanet_319595 node EFO_1000374 obsolete_metaplastic Breast Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000374 node EFO_0009726 financial situation satisfaction measurement null http://www.ebi.ac.uk/efo/EFO_0009726 node CHEBI_64187 benserazide null http://purl.obolibrary.org/obo/CHEBI_64187 node EFO_0002849 R11 null http://www.ebi.ac.uk/efo/EFO_0002849 node UBERON_0001759 vagus nerve null http://purl.obolibrary.org/obo/UBERON_0001759 node MONDO_0032760 developmental delay with or without dysmorphic facies and autism null http://purl.obolibrary.org/obo/MONDO_0032760 node EFO_0001393 obsolete_synovial membrane null http://www.ebi.ac.uk/efo/EFO_0001393 node HP_0011842 Abnormality of skeletal morphology null http://purl.obolibrary.org/obo/HP_0011842 node EFO_0002235 MHHPREB1 null http://www.ebi.ac.uk/efo/EFO_0002235 node EFO_0001308 larval day 21-29 null http://www.ebi.ac.uk/efo/EFO_0001308 node MONDO_0024458 disease of visual system null http://purl.obolibrary.org/obo/MONDO_0024458 node EFO_0002820 CM7-1 null http://www.ebi.ac.uk/efo/EFO_0002820 node EFO_0009257 root mean square of the successive differences of inter beat intervals null http://www.ebi.ac.uk/efo/EFO_0009257 node NCBITaxon_1299 Deinococcus radiodurans null http://purl.obolibrary.org/obo/NCBITaxon_1299 node EFO_1000937 fetal erythroblastosis null http://www.ebi.ac.uk/efo/EFO_1000937 node NCBITaxon_197221 Thermosynechococcus elongatus BP-1 null http://purl.obolibrary.org/obo/NCBITaxon_197221 node MONDO_0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness null http://purl.obolibrary.org/obo/MONDO_0015014 node MONDO_0003212 nasal cavity carcinoma null http://purl.obolibrary.org/obo/MONDO_0003212 node NCBITaxon_39947 Oryza sativa Japonica Group null http://purl.obolibrary.org/obo/NCBITaxon_39947 node EFO_0002456 obsolete_hippocampus CA3 null http://www.ebi.ac.uk/efo/EFO_0002456 node GO_0005801 cis-Golgi network The CGN is not considered part of the Golgi apparatus but is a separate organelle. http://purl.obolibrary.org/obo/GO_0005801 node EFO_0009814 number of children fathered measurement null http://www.ebi.ac.uk/efo/EFO_0009814 node CHEBI_48574 phenylbutazone null http://purl.obolibrary.org/obo/CHEBI_48574 node MONDO_0002108 thyroid cancer null http://purl.obolibrary.org/obo/MONDO_0002108 node EFO_0002937 lymphoma or leukaemia cell line null http://www.ebi.ac.uk/efo/EFO_0002937 node MONDO_0009703 myopathy with abnormal lipid metabolism null http://purl.obolibrary.org/obo/MONDO_0009703 node CLO_0013183 GM17261 null http://purl.obolibrary.org/obo/CLO_0013183 node CHEBI_28984 aluminium null http://purl.obolibrary.org/obo/CHEBI_28984 node UBERON_0002691 ventral tegmental area null http://purl.obolibrary.org/obo/UBERON_0002691 node CL_0000650 mesangial cell Do all of these cells really develop from some mesenchymal stem cell? http://purl.obolibrary.org/obo/CL_0000650 node EFO_0003085 dedifferentiated liposarcoma null http://www.ebi.ac.uk/efo/EFO_0003085 node EFO_0009345 Hepatitis B virus surface antigen seropositivity null http://www.ebi.ac.uk/efo/EFO_0009345 node EFO_0002721 postmenopausal null http://www.ebi.ac.uk/efo/EFO_0002721 node CHEBI_2511 agarose null http://purl.obolibrary.org/obo/CHEBI_2511 node EFO_0002544 plasmodium parasite stage null http://www.ebi.ac.uk/efo/EFO_0002544 node CLO_0013961 GM17154 null http://purl.obolibrary.org/obo/CLO_0013961 node Orphanet_319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency null http://www.orpha.net/ORDO/Orphanet_319539 node EFO_1001765 Bovine mastitis null http://www.ebi.ac.uk/efo/EFO_1001765 node EFO_0000394 dedifferentiated chondrosarcoma null http://www.ebi.ac.uk/efo/EFO_0000394 node EFO_1001075 oral leukoedema null http://www.ebi.ac.uk/efo/EFO_1001075 node Orphanet_262182 Partial deletion of the long arm of chromosome 22 null http://www.orpha.net/ORDO/Orphanet_262182 node NCBITaxon_12307 Cucumber mosaic virus (strain FNY) null http://purl.obolibrary.org/obo/NCBITaxon_12307 node MONDO_0015619 non-syndromic urogenital tract malformation null http://purl.obolibrary.org/obo/MONDO_0015619 node EFO_0005828 ML-DmD20-c5 null http://www.ebi.ac.uk/efo/EFO_0005828 node Orphanet_206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency null http://www.orpha.net/ORDO/Orphanet_206428 node CLO_0013939 GM17141 null http://purl.obolibrary.org/obo/CLO_0013939 node Orphanet_93442 Chondrodysplasia punctata null http://www.orpha.net/ORDO/Orphanet_93442 node EFO_0005757 vaginal inflammation null http://www.ebi.ac.uk/efo/EFO_0005757 node PO_0007606 gynoecium development stage null http://purl.obolibrary.org/obo/PO_0007606 node BTO_0004578 vascular smooth muscle cell null http://purl.obolibrary.org/obo/BTO_0004578 node EFO_0000459 obsolete_embryonic ganglion mother cell null http://www.ebi.ac.uk/efo/EFO_0000459 node UBERON_0005582 rhombomere 6 floor plate null http://purl.obolibrary.org/obo/UBERON_0005582 node CL_0000983 IgM plasmablast null http://purl.obolibrary.org/obo/CL_0000983 node EFO_0000501 follicular thyroid carcinoma null http://www.ebi.ac.uk/efo/EFO_0000501 node MONDO_0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity null http://purl.obolibrary.org/obo/MONDO_0014313 node EFO_0005131 HVA measurement null http://www.ebi.ac.uk/efo/EFO_0005131 node EFO_0009034 Combined oxidative phosphorylation defect type 24 null http://www.ebi.ac.uk/efo/EFO_0009034 node MONDO_0010178 congenital bilateral aplasia of vas deferens from CFTR mutation null http://purl.obolibrary.org/obo/MONDO_0010178 node EFO_0005916 ES-CJ7 null http://www.ebi.ac.uk/efo/EFO_0005916 node CLO_0027492 GM15215 null http://purl.obolibrary.org/obo/CLO_0027492 node EFO_0000547 obsolete_inner cell mass null http://www.ebi.ac.uk/efo/EFO_0000547 node Orphanet_262833 Partial duplication of the long arm of chromosome 1 null http://www.orpha.net/ORDO/Orphanet_262833 node EFO_1001228 ureterolithiasis null http://www.ebi.ac.uk/efo/EFO_1001228 node CL_0000385 prohemocyte (sensu Nematoda and Protostomia) null http://purl.obolibrary.org/obo/CL_0000385 node EFO_0006781 coffee consumption measurement null http://www.ebi.ac.uk/efo/EFO_0006781 node NCBITaxon_264956 Lotus filicaulis null http://purl.obolibrary.org/obo/NCBITaxon_264956 node NCBITaxon_262543 Exiguobacterium sibiricum 255-15 null http://purl.obolibrary.org/obo/NCBITaxon_262543 node CL_0000866 thymic macrophage Role or process: immune, clearance of apoptotic thymocytes, antigen-presentation. http://purl.obolibrary.org/obo/CL_0000866 node EFO_0005658 response to selective serotonin reuptake inhibitor null http://www.ebi.ac.uk/efo/EFO_0005658 node CHEBI_40070 4-hydroxycoumarin null http://purl.obolibrary.org/obo/CHEBI_40070 node MONDO_0030919 intellectual disability, autosomal dominant 53 null http://purl.obolibrary.org/obo/MONDO_0030919 node Orphanet_79175 Disorder of gamma-aminobutyric acid metabolism null http://www.orpha.net/ORDO/Orphanet_79175 node CL_0002150 epithelioid macrophage null http://purl.obolibrary.org/obo/CL_0002150 node EFO_0009122 scraping null http://www.ebi.ac.uk/efo/EFO_0009122 node MONDO_0010266 intellectual disability, X-linked 58 null http://purl.obolibrary.org/obo/MONDO_0010266 node EFO_0003068 obsolete_shoulder null http://www.ebi.ac.uk/efo/EFO_0003068 node EFO_0007963 abnormal paneth cell measurement null http://www.ebi.ac.uk/efo/EFO_0007963 node Orphanet_1488 Cooper-Jabs syndrome null http://www.orpha.net/ORDO/Orphanet_1488 node Orphanet_300337 Congenital blindness due to retinal non-attachment null http://www.orpha.net/ORDO/Orphanet_300337 node HP_0000582 Upslanted palpebral fissure null http://purl.obolibrary.org/obo/HP_0000582 node EFO_0007665 ear protrusion null http://www.ebi.ac.uk/efo/EFO_0007665 node Orphanet_2670 Pierson syndrome null http://www.orpha.net/ORDO/Orphanet_2670 node CHEBI_27027 micronutrient null http://purl.obolibrary.org/obo/CHEBI_27027 node HP_0004277 Fractured hand bones null http://purl.obolibrary.org/obo/HP_0004277 node MONDO_0023603 hereditary connective tissue disorder null http://purl.obolibrary.org/obo/MONDO_0023603 node EFO_0010208 UMI barcode read null http://www.ebi.ac.uk/efo/EFO_0010208 node CHEBI_22660 aspartic acid null http://purl.obolibrary.org/obo/CHEBI_22660 node MONDO_0002775 anovulation null http://purl.obolibrary.org/obo/MONDO_0002775 node Orphanet_1272 Fine-Lubinsky syndrome null http://www.orpha.net/ORDO/Orphanet_1272 node MONDO_0001296 acquired night blindness null http://purl.obolibrary.org/obo/MONDO_0001296 node CL_0002051 CD38-high pre-BCR positive cell Markers are associated with human cells. http://purl.obolibrary.org/obo/CL_0002051 node EFO_0000003 CS57512 null http://www.ebi.ac.uk/efo/EFO_0000003 node NCBITaxon_359986 Lagopus lagopus scotica null http://purl.obolibrary.org/obo/NCBITaxon_359986 node MONDO_0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies null http://purl.obolibrary.org/obo/MONDO_0060490 node EFO_0005114 head circumference null http://www.ebi.ac.uk/efo/EFO_0005114 node EFO_0007548 yaws null http://www.ebi.ac.uk/efo/EFO_0007548 node Orphanet_262119 Partial deletion of the long arm of chromosome 15 null http://www.orpha.net/ORDO/Orphanet_262119 node HP_0000483 Astigmatism The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision. http://purl.obolibrary.org/obo/HP_0000483 node MONDO_0002863 rhabdomyosarcoma with mixed embryonal and alveolar features null http://purl.obolibrary.org/obo/MONDO_0002863 node Orphanet_665 Albright hereditary osteodystrophy null http://www.orpha.net/ORDO/Orphanet_665 node MONDO_0003780 T-cell immunodeficiency null http://purl.obolibrary.org/obo/MONDO_0003780 node Orphanet_93964 Blepharospasm - oromandibular dystonia null http://www.orpha.net/ORDO/Orphanet_93964 node MONDO_0024431 bilirubin metabolism disease null http://purl.obolibrary.org/obo/MONDO_0024431 node MONDO_0002676 adult fibrosarcoma null http://purl.obolibrary.org/obo/MONDO_0002676 node CHEBI_34911 permethrin null http://purl.obolibrary.org/obo/CHEBI_34911 node NCBITaxon_1270 Micrococcus luteus null http://purl.obolibrary.org/obo/NCBITaxon_1270 node EFO_0007330 intestinal cancer null http://www.ebi.ac.uk/efo/EFO_0007330 node CL_0002342 circulating endothelial cell null http://purl.obolibrary.org/obo/CL_0002342 node EFO_0007079 HUES28 null http://www.ebi.ac.uk/efo/EFO_0007079 node EFO_0004584 mean platelet volume null http://www.ebi.ac.uk/efo/EFO_0004584 node Orphanet_90301 Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement null http://www.orpha.net/ORDO/Orphanet_90301 node EFO_0008607 drug-induced pemphigus null http://www.ebi.ac.uk/efo/EFO_0008607 node EFO_0005202 response to hydrochlorothiazide null http://www.ebi.ac.uk/efo/EFO_0005202 node EFO_0007636 attention function measurement null http://www.ebi.ac.uk/efo/EFO_0007636 node MONDO_0032927 triokinase and FMN cyclase deficiency syndrome null http://purl.obolibrary.org/obo/MONDO_0032927 node Orphanet_65283 Timothy syndrome null http://www.orpha.net/ORDO/Orphanet_65283 node MONDO_0008452 spinal muscular atrophy, facioscapulohumeral type null http://purl.obolibrary.org/obo/MONDO_0008452 node MONDO_0003719 renal pelvis neoplasm null http://purl.obolibrary.org/obo/MONDO_0003719 node EFO_0008398 T wave morphology measurement null http://www.ebi.ac.uk/efo/EFO_0008398 node Orphanet_753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency null http://www.orpha.net/ORDO/Orphanet_753 node EFO_0008961 TAmC-Seq null http://www.ebi.ac.uk/efo/EFO_0008961 node EFO_0007857 facial depth measurement null http://www.ebi.ac.uk/efo/EFO_0007857 node Orphanet_263553 Peeling skin syndrome type B null http://www.orpha.net/ORDO/Orphanet_263553 node EFO_0008214 lymphotactin measurement null http://www.ebi.ac.uk/efo/EFO_0008214 node EFO_0008009 1,5 anhydroglucitol measurement null http://www.ebi.ac.uk/efo/EFO_0008009 node EFO_0007167 Bell's palsy null http://www.ebi.ac.uk/efo/EFO_0007167 node CLO_0020019 GM11840 null http://purl.obolibrary.org/obo/CLO_0020019 node EFO_0004672 obsolete_response to gemcitabine null http://www.ebi.ac.uk/efo/EFO_0004672 node EFO_0006420 HCC0364 null http://www.ebi.ac.uk/efo/EFO_0006420 node Orphanet_169150 Immunodeficiency due to a late component of complements deficiency null http://www.orpha.net/ORDO/Orphanet_169150 node GO_0044422 organelle part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0044422 node Orphanet_141253 Oblique facial cleft null http://www.orpha.net/ORDO/Orphanet_141253 node MONDO_0001530 secondary hyperparathyroidism of renal origin null http://purl.obolibrary.org/obo/MONDO_0001530 node Orphanet_3259 Syndactyly-polydactyly-ear lobe syndrome null http://www.orpha.net/ORDO/Orphanet_3259 node MONDO_0001343 impaired renal function disease null http://purl.obolibrary.org/obo/MONDO_0001343 node Orphanet_181396 Rare hypothyroidism null http://www.orpha.net/ORDO/Orphanet_181396 node EFO_1000147 C-Cell Hyperplasia null http://www.ebi.ac.uk/efo/EFO_1000147 node EFO_0000864 obsolete_neurohemal organ null http://www.ebi.ac.uk/efo/EFO_0000864 node EFO_0007255 Enterovirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007255 node Orphanet_268752 Thoracolumbosacral spina bifida cystica null http://www.orpha.net/ORDO/Orphanet_268752 node MONDO_0015798 inflammatory myofibroblastic tumor null http://purl.obolibrary.org/obo/MONDO_0015798 node EFO_0006303 Swiss9 null http://www.ebi.ac.uk/efo/EFO_0006303 node Orphanet_79321 ALG3-CDG null http://www.orpha.net/ORDO/Orphanet_79321 node EFO_0009903 inflammatory disease null http://www.ebi.ac.uk/efo/EFO_0009903 node MONDO_0054794 hydrocephalus, congenital, 3, with brain anomalies null http://purl.obolibrary.org/obo/MONDO_0054794 node EFO_0004842 eosinophil count null http://www.ebi.ac.uk/efo/EFO_0004842 node EFO_1000235 Endometrial Intraepithelial Neoplasia null http://www.ebi.ac.uk/efo/EFO_1000235 node Orphanet_1373 Cataract - aberrant oral frenula - growth delay null http://www.orpha.net/ORDO/Orphanet_1373 node EFO_0003738 RNA-seq of coding RNA null http://www.ebi.ac.uk/efo/EFO_0003738 node EFO_0001944 obsolete_superior temporal gyrus null http://www.ebi.ac.uk/efo/EFO_0001944 node EFO_1000048 postweaning multisystemic wasting syndrome PMID:12400999 http://www.ebi.ac.uk/efo/EFO_1000048 node EFO_0010688 periapical tissue disease null http://www.ebi.ac.uk/efo/EFO_0010688 node EFO_1000529 Skin Basosquamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000529 node Orphanet_31709 Infantile convulsions and choreoathetosis null http://www.orpha.net/ORDO/Orphanet_31709 node EFO_0000085 CS57750 null http://www.ebi.ac.uk/efo/EFO_0000085 node EFO_0009510 peripheral nerve injury null http://www.ebi.ac.uk/efo/EFO_0009510 node UBERON_0001062 anatomical entity null http://purl.obolibrary.org/obo/UBERON_0001062 node HP_0003319 Abnormality of the cervical spine null http://purl.obolibrary.org/obo/HP_0003319 node EFO_0010074 trochanter size null http://www.ebi.ac.uk/efo/EFO_0010074 node Orphanet_88628 Posterior column ataxia - retinitis pigmentosa null http://www.orpha.net/ORDO/Orphanet_88628 node MONDO_0044793 spitz nevus null http://purl.obolibrary.org/obo/MONDO_0044793 node MONDO_0021337 tonsil carcinoma null http://purl.obolibrary.org/obo/MONDO_0021337 node EFO_0004930 M1 distant metastasis stage null http://www.ebi.ac.uk/efo/EFO_0004930 node NCBITaxon_41529 Salmonella enterica subsp. enterica serovar Typhisuis null http://purl.obolibrary.org/obo/NCBITaxon_41529 node PO_0007072 LP.18 eighteen leaves visible stage null http://purl.obolibrary.org/obo/PO_0007072 node EFO_1001240 vulvovaginitis null http://www.ebi.ac.uk/efo/EFO_1001240 node EFO_0004743 facial morphology null http://www.ebi.ac.uk/efo/EFO_0004743 node EFO_0010776 CUB domain containing protein 1 measurement null http://www.ebi.ac.uk/efo/EFO_0010776 node GO_1900133 regulation of renin secretion into blood stream null http://purl.obolibrary.org/obo/GO_1900133 node EFO_0003087 obsolete_atrial myocardium null http://www.ebi.ac.uk/efo/EFO_0003087 node CHEBI_83052 10-nonadecenoate null http://purl.obolibrary.org/obo/CHEBI_83052 node Orphanet_295077 Tibial hemimelia, unilateral null http://www.orpha.net/ORDO/Orphanet_295077 node Orphanet_2021 Fibrochondrogenesis null http://www.orpha.net/ORDO/Orphanet_2021 node EFO_1001942 bronchogenic carcinoma null http://www.ebi.ac.uk/efo/EFO_1001942 node EFO_0010162 death in childhood null http://www.ebi.ac.uk/efo/EFO_0010162 node CLO_0014341 GM17231 null http://purl.obolibrary.org/obo/CLO_0014341 node Orphanet_90025 Syndactyly Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy http://www.orpha.net/ORDO/Orphanet_90025 node Orphanet_308459 Disorder of glycolysis null http://www.orpha.net/ORDO/Orphanet_308459 node MONDO_0021248 nervous system neoplasm null http://purl.obolibrary.org/obo/MONDO_0021248 node EFO_0010560 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly null http://www.ebi.ac.uk/efo/EFO_0010560 node NCBITaxon_413999 Clostridium botulinum A str. ATCC 3502 null http://purl.obolibrary.org/obo/NCBITaxon_413999 node Orphanet_262687 Partial duplication of chromosome 19 null http://www.orpha.net/ORDO/Orphanet_262687 node EFO_0010383 phosphatidylcholine 36:5 measurement null http://www.ebi.ac.uk/efo/EFO_0010383 node EFO_0010864 HG03064 null http://www.ebi.ac.uk/efo/EFO_0010864 node Orphanet_2987 Antecubital pterygium syndrome null http://www.orpha.net/ORDO/Orphanet_2987 node EFO_0005349 GM18951 null http://www.ebi.ac.uk/efo/EFO_0005349 node UBERON_4200173 dorsal ridge null http://purl.obolibrary.org/obo/UBERON_4200173 node NCBITaxon_209841 Actinobacillus pleuropneumoniae serovar 7 null http://purl.obolibrary.org/obo/NCBITaxon_209841 node EFO_0003012 ILSXISS123/TejJ null http://www.ebi.ac.uk/efo/EFO_0003012 node CHEBI_45658 S-methylcysteine null http://purl.obolibrary.org/obo/CHEBI_45658 node HP_0010517 Ectopic thymus tissue null http://purl.obolibrary.org/obo/HP_0010517 node EO_0007199 long day length regimen null http://purl.obolibrary.org/obo/EO_0007199 node CHEBI_25107 magnesium null http://purl.obolibrary.org/obo/CHEBI_25107 node EFO_0005133 MHPG measurement null http://www.ebi.ac.uk/efo/EFO_0005133 node Orphanet_11 Pentasomy X null http://www.orpha.net/ORDO/Orphanet_11 node EFO_0002306 NCI-H82 null http://www.ebi.ac.uk/efo/EFO_0002306 node EFO_0000819 obsolete_myocardium null http://www.ebi.ac.uk/efo/EFO_0000819 node CHEBI_50862 azinomycin B null http://purl.obolibrary.org/obo/CHEBI_50862 node UBERON_0002060 femoral artery null http://purl.obolibrary.org/obo/UBERON_0002060 node EFO_0008764 Histone meth. null http://www.ebi.ac.uk/efo/EFO_0008764 node EFO_0006970 Sf-2 null http://www.ebi.ac.uk/efo/EFO_0006970 node EFO_0001963 obsolete_locus coeruleus null http://www.ebi.ac.uk/efo/EFO_0001963 node EFO_0008577 Juvenile Osteochondrosis null http://www.ebi.ac.uk/efo/EFO_0008577 node EFO_0006783 psychosocial stress measurement null http://www.ebi.ac.uk/efo/EFO_0006783 node Orphanet_85337 X-linked intellectual disability, Zorick type null http://www.orpha.net/ORDO/Orphanet_85337 node EFO_0005519 dissection protocol null http://www.ebi.ac.uk/efo/EFO_0005519 node GO_0006163 purine nucleotide metabolic process null http://purl.obolibrary.org/obo/GO_0006163 node EFO_0008665 BS-Seq null http://www.ebi.ac.uk/efo/EFO_0008665 node UO_0000015 centimeter null http://purl.obolibrary.org/obo/UO_0000015 node EFO_0006871 beta wave measurement null http://www.ebi.ac.uk/efo/EFO_0006871 node MONDO_0019252 other metabolic disease with skin involvement Editor note: consider merging http://purl.obolibrary.org/obo/MONDO_0019252 node MONDO_0013251 Birbeck granule deficiency null http://purl.obolibrary.org/obo/MONDO_0013251 node Orphanet_352587 Focal epilepsy - intellectual disability - cerebro-cerebellar malformation null http://www.orpha.net/ORDO/Orphanet_352587 node EFO_0005607 breast cancer stage null http://www.ebi.ac.uk/efo/EFO_0005607 node Orphanet_268987 Isolated focal cortical dysplasia type Ic null http://www.orpha.net/ORDO/Orphanet_268987 node Orphanet_79124 Hepatic veno-occlusive disease - immunodeficiency null http://www.orpha.net/ORDO/Orphanet_79124 node Orphanet_2138 46,XX ovotesticular disorder of sex development null http://www.orpha.net/ORDO/Orphanet_2138 node MONDO_0013953 immunodeficiency 28 null http://purl.obolibrary.org/obo/MONDO_0013953 node EFO_0008089 complement C1q subcomponent measurement null http://www.ebi.ac.uk/efo/EFO_0008089 node PO_0009012 plant structure development stage null http://purl.obolibrary.org/obo/PO_0009012 node Orphanet_53540 Goldmann-Favre syndrome null http://www.orpha.net/ORDO/Orphanet_53540 node Orphanet_254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA null http://www.orpha.net/ORDO/Orphanet_254767 node Orphanet_141330 Orofaciodigital syndrome type 13 null http://www.orpha.net/ORDO/Orphanet_141330 node EFO_1002005 lumbar disc herniation null http://www.ebi.ac.uk/efo/EFO_1002005 node CHEBI_23614 deoxycholate null http://purl.obolibrary.org/obo/CHEBI_23614 node HP_0002757 Recurrent fractures This term will be made obsolete. The annotations need to be checked. http://purl.obolibrary.org/obo/HP_0002757 node EFO_0009281 choroidal thickness measurement null http://www.ebi.ac.uk/efo/EFO_0009281 node NCBITaxon_7244 Drosophila virilis null http://purl.obolibrary.org/obo/NCBITaxon_7244 node Orphanet_101435 Rare genetic eye disease null http://www.orpha.net/ORDO/Orphanet_101435 node CL_0002000 Kit-positive erythroid progenitor cell Markers found on mouse cells. http://purl.obolibrary.org/obo/CL_0002000 node EFO_1000910 dysplasia of cervix null http://www.ebi.ac.uk/efo/EFO_1000910 node EFO_0008177 interleukin 17 receptor D measurement null http://www.ebi.ac.uk/efo/EFO_0008177 node EFO_0007332 Japanese encephalitis null http://www.ebi.ac.uk/efo/EFO_0007332 node Orphanet_3203 Overhydrated hereditary stomatocytosis null http://www.orpha.net/ORDO/Orphanet_3203 node GO_0009277 fungal-type cell wall null http://purl.obolibrary.org/obo/GO_0009277 node MONDO_0002466 eye carcinoma null http://purl.obolibrary.org/obo/MONDO_0002466 node EFO_0002752 aggressive null http://www.ebi.ac.uk/efo/EFO_0002752 node Orphanet_99042 Congenitally uncorrected transposition of the great arteries with coarctation null http://www.orpha.net/ORDO/Orphanet_99042 node MONDO_0002279 iron metabolism disease Editor note: DOID refers to acquired version, consider new class http://purl.obolibrary.org/obo/MONDO_0002279 node UBERON_0000426 extravillous trophoblast null http://purl.obolibrary.org/obo/UBERON_0000426 node EFO_0002575 esophageal endoderm null http://www.ebi.ac.uk/efo/EFO_0002575 node EFO_0002973 ILSXISS7/TejJ null http://www.ebi.ac.uk/efo/EFO_0002973 node EFO_0007420 paratyphoid fever null http://www.ebi.ac.uk/efo/EFO_0007420 node Orphanet_34521 Distal myopathy with early respiratory muscle involvement null http://www.orpha.net/ORDO/Orphanet_34521 node NCBITaxon_229990 Locusta migratoria manilensis null http://purl.obolibrary.org/obo/NCBITaxon_229990 node Orphanet_561 Marshall-Smith syndrome null http://www.orpha.net/ORDO/Orphanet_561 node CHEBI_2682 amphotericin B null http://purl.obolibrary.org/obo/CHEBI_2682 node EFO_0004533 alkaline phosphatase measurement null http://www.ebi.ac.uk/efo/EFO_0004533 node EFO_0009590 visual memory measurement null http://www.ebi.ac.uk/efo/EFO_0009590 node HP_0002376 Developmental regression Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones. http://purl.obolibrary.org/obo/HP_0002376 node MONDO_0002367 kidney cancer null http://purl.obolibrary.org/obo/MONDO_0002367 node NCBITaxon_2287 Sulfolobus solfataricus null http://purl.obolibrary.org/obo/NCBITaxon_2287 node EFO_0007021 Lewy body measurement null http://www.ebi.ac.uk/efo/EFO_0007021 node NCBITaxon_2850 Phaeodactylum tricornutum null http://purl.obolibrary.org/obo/NCBITaxon_2850 node MONDO_0021699 alcohol-induced disorders null http://purl.obolibrary.org/obo/MONDO_0021699 node EFO_0000250 obsolete_amnioserosa null http://www.ebi.ac.uk/efo/EFO_0000250 node HP_0010769 Pilonidal sinus null http://purl.obolibrary.org/obo/HP_0010769 node NCBITaxon_11619 Junin virus null http://purl.obolibrary.org/obo/NCBITaxon_11619 node EFO_0005383 HMEC1 null http://www.ebi.ac.uk/efo/EFO_0005383 node EFO_0001055 borderline leprosy null http://www.ebi.ac.uk/efo/EFO_0001055 node Orphanet_168598 Brain demyelination due to methionine adenosyltransferase deficiency null http://www.orpha.net/ORDO/Orphanet_168598 node NCBITaxon_281680 Oscheius myriophila null http://purl.obolibrary.org/obo/NCBITaxon_281680 node Orphanet_314555 Craniofacial dysplasia-osteopenia syndrome null http://www.orpha.net/ORDO/Orphanet_314555 node Orphanet_397802 T+ B+ severe combined immunodeficiency null http://www.orpha.net/ORDO/Orphanet_397802 node EFO_0006586 Hs 38.T null http://www.ebi.ac.uk/efo/EFO_0006586 node Orphanet_1878 Autosomal recessive limb-girdle muscular dystrophy type 2H null http://www.orpha.net/ORDO/Orphanet_1878 node Orphanet_166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia null http://www.orpha.net/ORDO/Orphanet_166029 node NCBITaxon_51453 Hypocrea jecorina null http://purl.obolibrary.org/obo/NCBITaxon_51453 node UBERON_0000026 appendage null http://purl.obolibrary.org/obo/UBERON_0000026 node EFO_0001320 segmentation 20-25 somites null http://www.ebi.ac.uk/efo/EFO_0001320 node EFO_0001143 GM12236 null http://www.ebi.ac.uk/efo/EFO_0001143 node MONDO_0000762 syndrome caused by partial chromosomal duplication Editor note: this is used in DOID to encompass typically partial duplications http://purl.obolibrary.org/obo/MONDO_0000762 node EFO_0005284 L-1210 null http://www.ebi.ac.uk/efo/EFO_0005284 node EFO_0003490 obsolete_cardinal system null http://www.ebi.ac.uk/efo/EFO_0003490 node EFO_0010416 triacylglycerol 52:4 measurement null http://www.ebi.ac.uk/efo/EFO_0010416 node Orphanet_221008 Rothmund-Thomson syndrome type 1 null http://www.orpha.net/ORDO/Orphanet_221008 node Orphanet_100994 Autosomal dominant spastic paraplegia type 13 null http://www.orpha.net/ORDO/Orphanet_100994 node HP_0012638 Abnormal nervous system physiology null http://purl.obolibrary.org/obo/HP_0012638 node NCBITaxon_51336 Cabbage leaf curl virus null http://purl.obolibrary.org/obo/NCBITaxon_51336 node MONDO_0004527 congenital granular cell tumor null http://purl.obolibrary.org/obo/MONDO_0004527 node EFO_0003101 testicular seminoma null http://www.ebi.ac.uk/efo/EFO_0003101 node CHEBI_50648 9-cis-retinoic acid null http://purl.obolibrary.org/obo/CHEBI_50648 node EFO_0004356 obsolete_taste null http://www.ebi.ac.uk/efo/EFO_0004356 node EFO_0003429 obsolete_otic placode null http://www.ebi.ac.uk/efo/EFO_0003429 node EFO_0010023 PELE-Seq null http://www.ebi.ac.uk/efo/EFO_0010023 node HP_0011014 Abnormal glucose homeostasis An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell. http://purl.obolibrary.org/obo/HP_0011014 node NCBITaxon_49785 Spartina anglica null http://purl.obolibrary.org/obo/NCBITaxon_49785 node Orphanet_2579 Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus null http://www.orpha.net/ORDO/Orphanet_2579 node EFO_0004169 methyl filtration null http://www.ebi.ac.uk/efo/EFO_0004169 node MONDO_0020312 atypical chronic myeloid leukemia Editor note: consider merge with MONDO:0004653 http://purl.obolibrary.org/obo/MONDO_0020312 node UBERON_0034919 juvenile stage null http://purl.obolibrary.org/obo/UBERON_0034919 node Orphanet_86822 Lissencephaly type 3 - metacarpal bone dysplasia null http://www.orpha.net/ORDO/Orphanet_86822 node Orphanet_1410 Uncombable hair syndrome null http://www.orpha.net/ORDO/Orphanet_1410 node Orphanet_100013 Lissencephaly with cerebellar hypoplasia type C null http://www.orpha.net/ORDO/Orphanet_100013 node MONDO_0007336 isolated cleft palate null http://purl.obolibrary.org/obo/MONDO_0007336 node UBERON_0002079 left cardiac atrium null http://purl.obolibrary.org/obo/UBERON_0002079 node HP_0008955 Progressive distal muscular atrophy null http://purl.obolibrary.org/obo/HP_0008955 node EFO_0010244 uveal melanoma disease severity null http://www.ebi.ac.uk/efo/EFO_0010244 node EFO_0007521 Trichomonas vaginitis null http://www.ebi.ac.uk/efo/EFO_0007521 node EFO_0010725 aseptic loosening null http://www.ebi.ac.uk/efo/EFO_0010725 node Orphanet_213517 Familial ovarian cancer null http://www.orpha.net/ORDO/Orphanet_213517 node EFO_0000117 CS57783 null http://www.ebi.ac.uk/efo/EFO_0000117 node CL_0002368 respiratory epithelial cell null http://purl.obolibrary.org/obo/CL_0002368 node EFO_0007849 functional brain measurement null http://www.ebi.ac.uk/efo/EFO_0007849 node CHEBI_31355 carboplatin null http://purl.obolibrary.org/obo/CHEBI_31355 node MONDO_0029130 polydactyly, postaxial, type A8 null http://purl.obolibrary.org/obo/MONDO_0029130 node EFO_0004257 neurotic disorder null http://www.ebi.ac.uk/efo/EFO_0004257 node Orphanet_966 Hypertrichosis-acromegaloid facial appearance syndrome null http://www.orpha.net/ORDO/Orphanet_966 node EFO_0010813 fasting C-peptide measurement null http://www.ebi.ac.uk/efo/EFO_0010813 node EFO_0010332 supramarginal gyrus volume measurement null http://www.ebi.ac.uk/efo/EFO_0010332 node CL_0002633 respiratory basal cell null http://purl.obolibrary.org/obo/CL_0002633 node CL_0002456 CD8_alpha-positive plasmactyoid dendritic cell null http://purl.obolibrary.org/obo/CL_0002456 node EFO_0010626 placenta growth factor measurement null http://www.ebi.ac.uk/efo/EFO_0010626 node CLO_0016528 GM17827 null http://purl.obolibrary.org/obo/CLO_0016528 node MONDO_0024615 T-cell and NK-cell neoplasm null http://purl.obolibrary.org/obo/MONDO_0024615 node MONDO_0022202 disseminated null http://purl.obolibrary.org/obo/MONDO_0022202 node Orphanet_867 Familial multiple trichoepithelioma null http://www.orpha.net/ORDO/Orphanet_867 node MONDO_0001423 drug-induced mental disorder null http://purl.obolibrary.org/obo/MONDO_0001423 node UBERON_0001872 parietal lobe null http://purl.obolibrary.org/obo/UBERON_0001872 node Orphanet_2837 Pellagra-like skin rash - neurological manifestations null http://www.orpha.net/ORDO/Orphanet_2837 node UO_0000017 micrometer null http://purl.obolibrary.org/obo/UO_0000017 node MONDO_0010122 congenital thrombotic thrombocytopenic purpura null http://purl.obolibrary.org/obo/MONDO_0010122 node FBbt_00005669 embryonic hypocerebral ganglion null http://purl.obolibrary.org/obo/FBbt_00005669 node CHEBI_64395 1-arachidonoyl-sn-glycero-3-phosphoethanolamine null http://purl.obolibrary.org/obo/CHEBI_64395 node CHEBI_28044 phenylalanine null http://purl.obolibrary.org/obo/CHEBI_28044 node EFO_0009502 abdominal injury null http://www.ebi.ac.uk/efo/EFO_0009502 node EFO_1001846 Spinal Osteophytosis null http://www.ebi.ac.uk/efo/EFO_1001846 node MONDO_0003204 villous adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0003204 node EFO_0009315 thrombophilia null http://www.ebi.ac.uk/efo/EFO_0009315 node Orphanet_306750 Primary myoclonus null http://www.orpha.net/ORDO/Orphanet_306750 node EFO_0006417 HCC0033 null http://www.ebi.ac.uk/efo/EFO_0006417 node EFO_0009619 neuroma null http://www.ebi.ac.uk/efo/EFO_0009619 node EFO_0007206 choroid plexus cancer Editor note. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/16 http://www.ebi.ac.uk/efo/EFO_0007206 node Orphanet_275736 Rare hemorrhagic disorder due to a platelet receptor defect null http://www.orpha.net/ORDO/Orphanet_275736 node GO_0044419 interspecies interaction between organisms null http://purl.obolibrary.org/obo/GO_0044419 node NCBITaxon_1602 Lactobacillus alimentarius null http://purl.obolibrary.org/obo/NCBITaxon_1602 node Orphanet_98957 Gelatinous drop-like corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98957 node EFO_1001453 Zoster Sine Herpete null http://www.ebi.ac.uk/efo/EFO_1001453 node Orphanet_319171 Distal 17p13.1 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_319171 node EFO_1001934 adult acute myeloid leukemia null http://www.ebi.ac.uk/efo/EFO_1001934 node EFO_0005883 obsolete_atrial appendage null http://www.ebi.ac.uk/efo/EFO_0005883 node CHEBI_3699 cimetidine null http://purl.obolibrary.org/obo/CHEBI_3699 node EFO_0004956 Clark level null http://www.ebi.ac.uk/efo/EFO_0004956 node NCBITaxon_299033 Lactobacillus reuteri F275 null http://purl.obolibrary.org/obo/NCBITaxon_299033 node EFO_0009403 granule cell layer dentate gyrus volume null http://www.ebi.ac.uk/efo/EFO_0009403 node MONDO_0014397 combined oxidative phosphorylation defect type 20 null http://purl.obolibrary.org/obo/MONDO_0014397 node MONDO_0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements null http://purl.obolibrary.org/obo/MONDO_0032900 node EFO_1001757 Adenomyosis null http://www.ebi.ac.uk/efo/EFO_1001757 node EFO_0008179 interleukin 18 receptor accessory protein measurement null http://www.ebi.ac.uk/efo/EFO_0008179 node NCBITaxon_7010 Schistocerca gregaria null http://purl.obolibrary.org/obo/NCBITaxon_7010 node EFO_0000199 oral squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0000199 node HP_0006872 Cerebral hypoplasia null http://purl.obolibrary.org/obo/HP_0006872 node CHEBI_53766 acenocoumarol null http://purl.obolibrary.org/obo/CHEBI_53766 node EFO_1000494 Primary Peritoneal Serous Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000494 node EFO_1001336 Hammer Toe Syndrome null http://www.ebi.ac.uk/efo/EFO_1001336 node MONDO_0017985 congenital radioulnar synostosis null http://purl.obolibrary.org/obo/MONDO_0017985 node UBERON_0001013 adipose tissue null http://purl.obolibrary.org/obo/UBERON_0001013 node EFO_0010591 matrix metalloproteinase 7 measurement null http://www.ebi.ac.uk/efo/EFO_0010591 node EFO_0005766 skin fluorescence measurement null http://www.ebi.ac.uk/efo/EFO_0005766 node NCBITaxon_8078 Fundulus heteroclitus null http://purl.obolibrary.org/obo/NCBITaxon_8078 node EFO_0004839 CD4:CD8 lymphocyte ratio null http://www.ebi.ac.uk/efo/EFO_0004839 node Orphanet_93434 Spondylodysplastic dysplasia null http://www.orpha.net/ORDO/Orphanet_93434 node HP_0011387 Enlarged vestibular aqueduct Enlarged vestibular aqueduct is commonly seen in Pendred syndrome. http://purl.obolibrary.org/obo/HP_0011387 node Orphanet_50811 Lipodystrophy - intellectual disability - deafness null http://www.orpha.net/ORDO/Orphanet_50811 node EFO_0003839 retinopathy null http://www.ebi.ac.uk/efo/EFO_0003839 node NCBITaxon_3634 Gossypium barbadense null http://purl.obolibrary.org/obo/NCBITaxon_3634 node Orphanet_1955 Spinocerebellar ataxia type 34 null http://www.orpha.net/ORDO/Orphanet_1955 node Orphanet_49382 Achromatopsia Editor note: we include incomplete forms here, such as BCM http://www.orpha.net/ORDO/Orphanet_49382 node EFO_0002178 FaDu Cell line derived from squamous cell carcinoma of the hypopharynx. http://www.ebi.ac.uk/efo/EFO_0002178 node UBERON_0007113 venom null http://purl.obolibrary.org/obo/UBERON_0007113 node Orphanet_261579 Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion null http://www.orpha.net/ORDO/Orphanet_261579 node Orphanet_1088 Short stature-heart defect-craniofacial anomalies syndrome null http://www.orpha.net/ORDO/Orphanet_1088 node BTO_0000407 osteosarcoma cell line null http://purl.obolibrary.org/obo/BTO_0000407 node MONDO_0018839 acquired schizencephaly null http://purl.obolibrary.org/obo/MONDO_0018839 node EFO_1000601 Transitional Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000601 node Orphanet_295185 Central polydactyly of toes, bilateral null http://www.orpha.net/ORDO/Orphanet_295185 node EFO_0005854 allergic rhinitis null http://www.ebi.ac.uk/efo/EFO_0005854 node EFO_0004927 N stage null http://www.ebi.ac.uk/efo/EFO_0004927 node Orphanet_364574 Acrofacial dysostosis null http://www.orpha.net/ORDO/Orphanet_364574 node EFO_0003927 obsolete_myopia null http://www.ebi.ac.uk/efo/EFO_0003927 node CHEBI_85748 triacylglycerol 56:8 null http://purl.obolibrary.org/obo/CHEBI_85748 node FMA_3866 proximal portion of anterior interventricular branch of left coronary artery null http://purl.obolibrary.org/obo/FMA_3866 node Orphanet_276183 Spinocerebellar ataxia type 32 null http://www.orpha.net/ORDO/Orphanet_276183 node Orphanet_104006 Congenital intestinal disease due to an enzymatic defect null http://www.orpha.net/ORDO/Orphanet_104006 node Orphanet_262638 Partial duplication of chromosome 8 null http://www.orpha.net/ORDO/Orphanet_262638 node EFO_0005385 IGROV-1 null http://www.ebi.ac.uk/efo/EFO_0005385 node EFO_0002079 SK-MEL-2 null http://www.ebi.ac.uk/efo/EFO_0002079 node EFO_0006996 response to homoharringtonine null http://www.ebi.ac.uk/efo/EFO_0006996 node EFO_0003711 obsolete_Rohon-Beard neuron null http://www.ebi.ac.uk/efo/EFO_0003711 node EFO_1000502 Rectal Hyperplastic Polyp null http://www.ebi.ac.uk/efo/EFO_1000502 node EFO_0006380 COLO 853 null http://www.ebi.ac.uk/efo/EFO_0006380 node EO_0007337 Nematoda null http://purl.obolibrary.org/obo/EO_0007337 node EFO_1000325 Liver Neuroendocrine Tumor null http://www.ebi.ac.uk/efo/EFO_1000325 node CHEBI_30768 propionic acid null http://purl.obolibrary.org/obo/CHEBI_30768 node UBERON_0004535 cardiovascular system null http://purl.obolibrary.org/obo/UBERON_0004535 node HP_0012803 Anisometropia null http://purl.obolibrary.org/obo/HP_0012803 node MONDO_0018534 squamous cell carcinoma of liver and intrahepatic biliary tract null http://purl.obolibrary.org/obo/MONDO_0018534 node MONDO_0003684 clear cell chondrosarcoma null http://purl.obolibrary.org/obo/MONDO_0003684 node MONDO_0015813 primary cutaneous marginal zone B-cell lymphoma null http://purl.obolibrary.org/obo/MONDO_0015813 node Orphanet_137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency null http://www.orpha.net/ORDO/Orphanet_137625 node NCBITaxon_126740 Thermotoga sp. RQ2 null http://purl.obolibrary.org/obo/NCBITaxon_126740 node Orphanet_1101 Anophthalmia - megalocornea - cardiopathy - skeletal anomalies null http://www.orpha.net/ORDO/Orphanet_1101 node MONDO_0019455 acute panmyelosis with myelofibrosis null http://purl.obolibrary.org/obo/MONDO_0019455 node EFO_0005286 BALB/cAnN null http://www.ebi.ac.uk/efo/EFO_0005286 node MONDO_0019278 hair anomaly null http://purl.obolibrary.org/obo/MONDO_0019278 node MONDO_0008560 thrombophilia due to activated protein C resistance null http://purl.obolibrary.org/obo/MONDO_0008560 node Orphanet_228305 Carnitine palmitoyl transferase II deficiency, severe infantile form null http://www.orpha.net/ORDO/Orphanet_228305 node HP_0006101 Finger syndactyly null http://purl.obolibrary.org/obo/HP_0006101 node Orphanet_79281 Alpha-N-acetylgalactosaminidase deficiency type 3 null http://www.orpha.net/ORDO/Orphanet_79281 node EFO_0006281 JinB8 null http://www.ebi.ac.uk/efo/EFO_0006281 node Orphanet_262128 Partial deletion of the long arm of chromosome 16 null http://www.orpha.net/ORDO/Orphanet_262128 node CLO_0021875 AG10049 null http://purl.obolibrary.org/obo/CLO_0021875 node MONDO_0003291 leiomyoma cutis null http://purl.obolibrary.org/obo/MONDO_0003291 node EFO_0007938 coronary atherosclerosis measurement null http://www.ebi.ac.uk/efo/EFO_0007938 node EFO_0009688 stomatitis null http://www.ebi.ac.uk/efo/EFO_0009688 node EFO_0006967 Kin-0 null http://www.ebi.ac.uk/efo/EFO_0006967 node UBERON_2001200 corpuscles of Stannius null http://purl.obolibrary.org/obo/UBERON_2001200 node Orphanet_247676 Adult hypophosphatasia null http://www.orpha.net/ORDO/Orphanet_247676 node HP_0009088 Speech articulation difficulties Speech articulation difficulties can result from abnormalities of the vocal tract (the larynx and the pharyngeal, oral, and nasal cavities). http://purl.obolibrary.org/obo/HP_0009088 node CHEBI_64191 nafadotride null http://purl.obolibrary.org/obo/CHEBI_64191 node EFO_0007324 inclusion conjunctivitis null http://www.ebi.ac.uk/efo/EFO_0007324 node Orphanet_330050 Lethal encephalopathy due to mitochondrial and peroxisomal fission defect null http://www.orpha.net/ORDO/Orphanet_330050 node CL_0000929 CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma null http://purl.obolibrary.org/obo/CL_0000929 node EFO_0007137 AIDS related complex null http://www.ebi.ac.uk/efo/EFO_0007137 node EFO_0009494 C1 100080002 null http://www.ebi.ac.uk/efo/EFO_0009494 node EFO_0005162 Uk-2 null http://www.ebi.ac.uk/efo/EFO_0005162 node MONDO_0036511 childhood malignant kidney neoplasm null http://purl.obolibrary.org/obo/MONDO_0036511 node MONDO_0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity null http://purl.obolibrary.org/obo/MONDO_0032887 node PATO_0000051 morphology null http://purl.obolibrary.org/obo/PATO_0000051 node Orphanet_308520 Glycogen storage disease due to glycogen synthase deficiency null http://www.orpha.net/ORDO/Orphanet_308520 node NCBITaxon_483 Neisseria cinerea null http://purl.obolibrary.org/obo/NCBITaxon_483 node EFO_0008953 STRT-seq null http://www.ebi.ac.uk/efo/EFO_0008953 node CHEBI_18401 phenylacetate null http://purl.obolibrary.org/obo/CHEBI_18401 node EFO_0008766 HITS-RAP null http://www.ebi.ac.uk/efo/EFO_0008766 node Orphanet_158676 Dystrophic epidermolysis bullosa, nails only null http://www.orpha.net/ORDO/Orphanet_158676 node Orphanet_254905 Isolated cytochrome C oxidase deficiency null http://www.orpha.net/ORDO/Orphanet_254905 node HP_0031826 Abnormal reflex null http://purl.obolibrary.org/obo/HP_0031826 node MONDO_0019834 pituitary hormone deficiency from meningeal origin null http://purl.obolibrary.org/obo/MONDO_0019834 node UBERON_0006676 muscularis mucosa null http://purl.obolibrary.org/obo/UBERON_0006676 node EFO_0002778 BG02ES null http://www.ebi.ac.uk/efo/EFO_0002778 node EFO_0007225 cowpox null http://www.ebi.ac.uk/efo/EFO_0007225 node Orphanet_3455 Wiedemann-Rautenstrauch syndrome null http://www.orpha.net/ORDO/Orphanet_3455 node Orphanet_2528 Microcephaly-microcornea syndrome, Seemanova type null http://www.orpha.net/ORDO/Orphanet_2528 node EFO_0009582 sprain null http://www.ebi.ac.uk/efo/EFO_0009582 node MONDO_0000060 microcephalic osteodysplastic primordial dwarfism null http://purl.obolibrary.org/obo/MONDO_0000060 node EFO_0009395 hippocampal CA3 volume null http://www.ebi.ac.uk/efo/EFO_0009395 node EFO_0009980 MC-Hi-C null http://www.ebi.ac.uk/efo/EFO_0009980 node Orphanet_309803 Rhizomelic chondrodysplasia punctata type 3 null http://www.orpha.net/ORDO/Orphanet_309803 node NCBITaxon_384 Rhizobium leguminosarum null http://purl.obolibrary.org/obo/NCBITaxon_384 node EFO_0008854 PB-seq null http://www.ebi.ac.uk/efo/EFO_0008854 node EFO_0000856 obsolete_islet of Langerhans null http://www.ebi.ac.uk/efo/EFO_0000856 node PO_0009009 plant embryo The early developmental stage that, through embryological development, ultimately becomes an adult individual. In plants, that portion of a seed that will form the growing seedling following germination; it has a radicle, apical meristem, and embryonic leaf or leaves. http://purl.obolibrary.org/obo/PO_0009009 node FBbt_00005834 ventral imaginal tissue null http://purl.obolibrary.org/obo/FBbt_00005834 node EFO_0009006 hyperandrogenism null http://www.ebi.ac.uk/efo/EFO_0009006 node EFO_0000669 obsolete_pretreatment null http://www.ebi.ac.uk/efo/EFO_0000669 node EFO_0003793 interleukin (Rattus norvegicus) null http://www.ebi.ac.uk/efo/EFO_0003793 node GO_0046877 regulation of saliva secretion null http://purl.obolibrary.org/obo/GO_0046877 node EFO_0003588 obsolete_floor plate rhombomere 4 null http://www.ebi.ac.uk/efo/EFO_0003588 node CHEBI_48958 1,1'-azobis(N,N-dimethylformamide) null http://purl.obolibrary.org/obo/CHEBI_48958 node Orphanet_2616 3M syndrome null http://www.orpha.net/ORDO/Orphanet_2616 node GO_0005829 cytosol null http://purl.obolibrary.org/obo/GO_0005829 node UBERON_0006601 presumptive ectoderm null http://purl.obolibrary.org/obo/UBERON_0006601 node EFO_1001992 Scapuloperoneal spinal muscular atrophy null http://www.ebi.ac.uk/efo/EFO_1001992 node Orphanet_2429 Macrocephaly - spastic paraplegia - dysmorphism null http://www.orpha.net/ORDO/Orphanet_2429 node EFO_0000640 papillary renal cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0000640 node HP_0002900 Hypokalemia null http://purl.obolibrary.org/obo/HP_0002900 node HP_0100727 Histiocytosis null http://purl.obolibrary.org/obo/HP_0100727 node EFO_1000992 intracranial hypertension null http://www.ebi.ac.uk/efo/EFO_1000992 node EFO_1000907 duodenal benign neoplasm null http://www.ebi.ac.uk/efo/EFO_1000907 node EFO_0001047 sap null http://www.ebi.ac.uk/efo/EFO_0001047 node EFO_0009891 carbamazepine metabolite measurement null http://www.ebi.ac.uk/efo/EFO_0009891 node EFO_0000463 obsolete_Emery-Dreifuss muscular dystrophy null http://www.ebi.ac.uk/efo/EFO_0000463 node EFO_1001144 rat-bite fever null http://www.ebi.ac.uk/efo/EFO_1001144 node MONDO_0002187 vulvar disease null http://purl.obolibrary.org/obo/MONDO_0002187 node CL_0002405 gamma-delta thymocyte null http://purl.obolibrary.org/obo/CL_0002405 node CHEBI_72663 9,10-DiHOME null http://purl.obolibrary.org/obo/CHEBI_72663 node EFO_0004647 response to platinum based chemotherapy null http://www.ebi.ac.uk/efo/EFO_0004647 node Orphanet_280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation null http://www.orpha.net/ORDO/Orphanet_280288 node EFO_0000757 obsolete_muscular dystrophy null http://www.ebi.ac.uk/efo/EFO_0000757 node EFO_0003676 obsolete_posterior lateral line ganglion null http://www.ebi.ac.uk/efo/EFO_0003676 node EFO_0002749 undisturbed flow regions null http://www.ebi.ac.uk/efo/EFO_0002749 node Orphanet_93587 Familial cystic renal disease null http://www.orpha.net/ORDO/Orphanet_93587 node EFO_0001749 innate behavior design null http://www.ebi.ac.uk/efo/EFO_0001749 node CLO_0013989 GM17167 null http://purl.obolibrary.org/obo/CLO_0013989 node EFO_0008062 calcium/calmodulin-dependent protein kinase type 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008062 node EFO_0008439 single cell nucleic acid sequencing protocol null http://www.ebi.ac.uk/efo/EFO_0008439 node Orphanet_816 Sjögren-Larsson syndrome null http://www.orpha.net/ORDO/Orphanet_816 node MONDO_0024462 familial cutaneous melanoma Editor note: consider merge with parent http://purl.obolibrary.org/obo/MONDO_0024462 node Orphanet_79214 Disorder of biogenic amine metabolism and transport null http://www.orpha.net/ORDO/Orphanet_79214 node EFO_1000875 commensal Desulfovibrionaceae infectious disease null http://www.ebi.ac.uk/efo/EFO_1000875 node EFO_0001135 GM12057 null http://www.ebi.ac.uk/efo/EFO_0001135 node EFO_0003897 stomach neoplasm null http://www.ebi.ac.uk/efo/EFO_0003897 node EFO_0002050 BeWo null http://www.ebi.ac.uk/efo/EFO_0002050 node MONDO_0027772 lung colloid adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0027772 node EFO_0000551 intracranial hemorrhage Editor note: consider obsoleting https://github.com/EBISPOT/OLS/issues/207 http://www.ebi.ac.uk/efo/EFO_0000551 node EFO_1001232 uveoparotid fever null http://www.ebi.ac.uk/efo/EFO_1001232 node Orphanet_558 Marfan syndrome null http://www.orpha.net/ORDO/Orphanet_558 node EFO_0000364 colon mucinous adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0000364 node EFO_0002460 hypertrophy null http://www.ebi.ac.uk/efo/EFO_0002460 node EFO_0004735 serum alanine aminotransferase measurement null http://www.ebi.ac.uk/efo/EFO_0004735 node Orphanet_307995 Marginal papular palmoplantar keratoderma null http://www.orpha.net/ORDO/Orphanet_307995 node UBERON_0005945 neurocranial trabecula null http://purl.obolibrary.org/obo/UBERON_0005945 node MONDO_0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy null http://purl.obolibrary.org/obo/MONDO_0033043 node Orphanet_165994 Selective pituitary resistance to thyroid hormone null http://www.orpha.net/ORDO/Orphanet_165994 node EFO_1001045 middle cerebral artery infarction null http://www.ebi.ac.uk/efo/EFO_1001045 node CHEBI_50122 rosiglitazone null http://purl.obolibrary.org/obo/CHEBI_50122 node MONDO_0004580 retinal degeneration null http://purl.obolibrary.org/obo/MONDO_0004580 node EFO_0005475 BL-2 null http://www.ebi.ac.uk/efo/EFO_0005475 node Orphanet_100986 Autosomal recessive spastic paraplegia type 5A OMIM obsoleted 600146 and moved it to 270800 so I merged these - smb. http://www.orpha.net/ORDO/Orphanet_100986 node EFO_0008150 heparin cofactor 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008150 node Orphanet_295069 Radial hemimelia, unilateral null http://www.orpha.net/ORDO/Orphanet_295069 node Orphanet_207122 Qualitative or quantitative defects of fukutin null http://www.orpha.net/ORDO/Orphanet_207122 node Orphanet_165 Neutral lipid storage disease Editor note: DOID:0050729 and wikipedia treat CD-syndrome and NLSD as one, but we follow orphanet is placing CD as a subtype. http://www.orpha.net/ORDO/Orphanet_165 node EFO_0001416 cervical adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0001416 node UBERON_0002518 otolith organ null http://purl.obolibrary.org/obo/UBERON_0002518 node FBbt_00005519 visceral muscle primordium null http://purl.obolibrary.org/obo/FBbt_00005519 node Orphanet_231249 Hemoglobin E - beta-thalassemia null http://www.orpha.net/ORDO/Orphanet_231249 node EFO_0003402 obsolete_ventral midline neuron null http://www.ebi.ac.uk/efo/EFO_0003402 node Orphanet_262803 Partial duplication of the short arm of chromosome 17 null http://www.orpha.net/ORDO/Orphanet_262803 node HP_0030276 Small scrotum A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum. http://purl.obolibrary.org/obo/HP_0030276 node NCBITaxon_399726 Thermoanaerobacter sp. X514 null http://purl.obolibrary.org/obo/NCBITaxon_399726 node CL_0002399 CD1c-positive myeloid dendritic cell Normally represent 10-20% of peripheral blood mDCs (human). They are also CD281-positive (TLR1), CD282-positive (TLR2), CD283-positive (TLR3), CD284-positive (TLR4), CD285-positive (TLR5), CD286-positive (TLR6), CD288-positive (TLR8), and CD290-positive (TLR10) [PMID:20204387]. Upon TLR stimulation, these cells were potent producers of CXCL8 (IL-8), while producing little TNF-alpha. http://purl.obolibrary.org/obo/CL_0002399 node HP_0000111 Renal juxtaglomerular cell hypertrophy/hyperplasia null http://purl.obolibrary.org/obo/HP_0000111 node MONDO_0011668 maturity-onset diabetes of the young type 6 null http://purl.obolibrary.org/obo/MONDO_0011668 node EFO_0010137 leukocyte esterase measurement null http://www.ebi.ac.uk/efo/EFO_0010137 node EFO_0010618 pappalysin‐1 measurement null http://www.ebi.ac.uk/efo/EFO_0010618 node EFO_0004031 Drosophila simulans NC48 null http://www.ebi.ac.uk/efo/EFO_0004031 node MONDO_0015023 MYPN-related myopathy null http://purl.obolibrary.org/obo/MONDO_0015023 node EFO_0006775 WSU-DLCL2 null http://www.ebi.ac.uk/efo/EFO_0006775 node CHEBI_17221 myrcene null http://purl.obolibrary.org/obo/CHEBI_17221 node NCBITaxon_259536 Psychrobacter arcticus 273-4 null http://purl.obolibrary.org/obo/NCBITaxon_259536 node Orphanet_1319 Camptobrachydactyly null http://www.orpha.net/ORDO/Orphanet_1319 node BTO_0001038 peritrophic membrane null http://purl.obolibrary.org/obo/BTO_0001038 node EFO_0006588 Hs 695T null http://www.ebi.ac.uk/efo/EFO_0006588 node EFO_0010839 GM21737 null http://www.ebi.ac.uk/efo/EFO_0010839 node EFO_0004230 endometrial neoplasm null http://www.ebi.ac.uk/efo/EFO_0004230 node EFO_0003303 hepatocyte growth factor null http://www.ebi.ac.uk/efo/EFO_0003303 node CHEBI_86051 O-otanoyl-D-carnitine null http://purl.obolibrary.org/obo/CHEBI_86051 node MONDO_0024481 skin appendage disease null http://purl.obolibrary.org/obo/MONDO_0024481 node EFO_1000128 Bladder Paraganglioma null http://www.ebi.ac.uk/efo/EFO_1000128 node CHEBI_8228 pioglitazone null http://purl.obolibrary.org/obo/CHEBI_8228 node Orphanet_206554 Autosomal recessive limb-girdle muscular dystrophy type 2M null http://www.orpha.net/ORDO/Orphanet_206554 node MONDO_0015111 gastroesophageal disease null http://purl.obolibrary.org/obo/MONDO_0015111 node Orphanet_295134 Brachydactyly of toes, bilateral null http://www.orpha.net/ORDO/Orphanet_295134 node EFO_0007705 manic episode measurement null http://www.ebi.ac.uk/efo/EFO_0007705 node CHEBI_21264 L-cysteine glutathione disulfide null http://purl.obolibrary.org/obo/CHEBI_21264 node EFO_0006676 NCI-H2196 null http://www.ebi.ac.uk/efo/EFO_0006676 node Orphanet_3474 CHIME syndrome null http://www.orpha.net/ORDO/Orphanet_3474 node Orphanet_99764 Familial hyperreninemic hypoaldosteronism type 2 null http://www.orpha.net/ORDO/Orphanet_99764 node Orphanet_325061 46,XX disorder of sex development induced by fetoplacental androgens excess null http://www.orpha.net/ORDO/Orphanet_325061 node CHEBI_4806 epigallocatechin gallate null http://purl.obolibrary.org/obo/CHEBI_4806 node Orphanet_79283 Methylmalonic acidemia with homocystinuria, type cblD null http://www.orpha.net/ORDO/Orphanet_79283 node MONDO_0014061 Steel syndrome null http://purl.obolibrary.org/obo/MONDO_0014061 node EFO_0003396 obsolete_prothoracic gland null http://www.ebi.ac.uk/efo/EFO_0003396 node NCBITaxon_11599 Hantaan virus null http://purl.obolibrary.org/obo/NCBITaxon_11599 node Orphanet_99852 RAVINE syndrome null http://www.orpha.net/ORDO/Orphanet_99852 node UBERON_0001986 endothelium The term 'endothelium' has been either restricted to the continuous cell layer of the vertebrates, as we are assuming here, or applied to all the cells able to adhere to the luminal surface of the vascular basement membrane (Casley-Smith 1980) http://purl.obolibrary.org/obo/UBERON_0001986 node EFO_0006448 JL-1 null http://www.ebi.ac.uk/efo/EFO_0006448 node MONDO_0011163 malignant hyperthermia, susceptibility to, 5 null http://purl.obolibrary.org/obo/MONDO_0011163 node EFO_0009086 arteriosclerosis null http://www.ebi.ac.uk/efo/EFO_0009086 node NCBITaxon_3988 Ricinus communis null http://purl.obolibrary.org/obo/NCBITaxon_3988 node NCBITaxon_6182 Schistosoma japonicum null http://purl.obolibrary.org/obo/NCBITaxon_6182 node EFO_0008569 Thiamine deficiency null http://www.ebi.ac.uk/efo/EFO_0008569 node NCBITaxon_4100 Nicotiana benthamiana null http://purl.obolibrary.org/obo/NCBITaxon_4100 node MONDO_0032889 Poirier-Bienvenu neurodevelopmental syndrome null http://purl.obolibrary.org/obo/MONDO_0032889 node Orphanet_401820 Autosomal recessive spastic paraplegia type 67 null http://www.orpha.net/ORDO/Orphanet_401820 node EFO_0003484 obsolete_trigeminal neural crest null http://www.ebi.ac.uk/efo/EFO_0003484 node PO_0025598 pistillate inflorescence null http://purl.obolibrary.org/obo/PO_0025598 node MONDO_0013906 amelogenesis imperfecta hypomaturation type 2A4 null http://purl.obolibrary.org/obo/MONDO_0013906 node EFO_0009655 abnormal sample null http://www.ebi.ac.uk/efo/EFO_0009655 node EFO_0007861 body ratio measurement null http://www.ebi.ac.uk/efo/EFO_0007861 node Orphanet_570 Moebius syndrome null http://www.orpha.net/ORDO/Orphanet_570 node HP_0002385 Paraparesis Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity. http://purl.obolibrary.org/obo/HP_0002385 node Orphanet_101063 Situs inversus totalis null http://www.orpha.net/ORDO/Orphanet_101063 node Orphanet_331220 Immunodeficiency due to absence of thymus null http://www.orpha.net/ORDO/Orphanet_331220 node Orphanet_1986 Gollop-Wolfgang complex null http://www.orpha.net/ORDO/Orphanet_1986 node EFO_0009256 standard deviation of the normal-to-normal inter beat intervals null http://www.ebi.ac.uk/efo/EFO_0009256 node EFO_0004812 interleukin-1 beta measurement null http://www.ebi.ac.uk/efo/EFO_0004812 node EFO_0008715 Dnase I SIM null http://www.ebi.ac.uk/efo/EFO_0008715 node Orphanet_98702 Connective tissue disease with eye involvement null http://www.orpha.net/ORDO/Orphanet_98702 node EFO_0010687 neonatal erythema toxicum null http://www.ebi.ac.uk/efo/EFO_0010687 node EFO_0001914 obsolete_brain ventricle null http://www.ebi.ac.uk/efo/EFO_0001914 node CLO_0013182 GM17260 null http://purl.obolibrary.org/obo/CLO_0013182 node UBERON_0009955 neurogenic placode null http://purl.obolibrary.org/obo/UBERON_0009955 node CHEBI_64041 N-octylhomovanillamide null http://purl.obolibrary.org/obo/CHEBI_64041 node CHEBI_17368 hypoxanthine null http://purl.obolibrary.org/obo/CHEBI_17368 node MONDO_0015193 hydrops fetalis (disease) null http://purl.obolibrary.org/obo/MONDO_0015193 node EFO_0001224 PAC2 null http://www.ebi.ac.uk/efo/EFO_0001224 node EFO_0002151 Calu1 null http://www.ebi.ac.uk/efo/EFO_0002151 node Orphanet_249 Fibrous dysplasia of bone null http://www.orpha.net/ORDO/Orphanet_249 node EFO_1000445 Pancreatic Vipoma null http://www.ebi.ac.uk/efo/EFO_1000445 node Orphanet_261552 Mowat-Wilson syndrome due to a ZEB2 point mutation null http://www.orpha.net/ORDO/Orphanet_261552 node EFO_0009344 Rubella virus seropositivity null http://www.ebi.ac.uk/efo/EFO_0009344 node Orphanet_2909 Rothmund-Thomson syndrome Editor note: check whether properties apply to both 1 and 2, or just type 2 http://www.orpha.net/ORDO/Orphanet_2909 node Orphanet_73271 Bleeding diathesis due to a collagen receptor defect null http://www.orpha.net/ORDO/Orphanet_73271 node EFO_0008322 decreased susceptibility to bacterial infection null http://www.ebi.ac.uk/efo/EFO_0008322 node EFO_0004780 DSM-IV-based social scale null http://www.ebi.ac.uk/efo/EFO_0004780 node EFO_0004900 obsolete_Yoruba null http://www.ebi.ac.uk/efo/EFO_0004900 node EFO_0008803 MeRIP-Seq null http://www.ebi.ac.uk/efo/EFO_0008803 node Orphanet_353220 Familial primary localized cutaneous amyloidosis null http://www.orpha.net/ORDO/Orphanet_353220 node UBERON_0002124 medulla of thymus null http://purl.obolibrary.org/obo/UBERON_0002124 node EFO_0000618 nervous system disease null http://www.ebi.ac.uk/efo/EFO_0000618 node EFO_1000052 sex cord-stromal tumor null http://www.ebi.ac.uk/efo/EFO_1000052 node OBI_0000922 frozen specimen null http://purl.obolibrary.org/obo/OBI_0000922 node EFO_0001312 pharyngula prim-15 null http://www.ebi.ac.uk/efo/EFO_0001312 node EFO_1000533 Small Intestinal Burkitt Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000533 node EFO_0010588 matrix metalloproteinase 1 measurement null http://www.ebi.ac.uk/efo/EFO_0010588 node CLO_0030311 GM15036 null http://purl.obolibrary.org/obo/CLO_0030311 node BTO_0001900 growth phase culture null http://purl.obolibrary.org/obo/BTO_0001900 node EFO_0002052 EcR-RKO/KLF4 null http://www.ebi.ac.uk/efo/EFO_0002052 node EFO_0005278 cardiovascular disease biomarker measurement null http://www.ebi.ac.uk/efo/EFO_0005278 node HP_0005117 Elevated diastolic blood pressure Normal diastolic blood pressure is less than 80 mmHg. http://purl.obolibrary.org/obo/HP_0005117 node HP_0003323 Progressive muscle weakness null http://purl.obolibrary.org/obo/HP_0003323 node Orphanet_314652 Autosomal dominant beta2-microglobulinic amyloidosis null http://www.orpha.net/ORDO/Orphanet_314652 node EFO_0008410 susceptibility to pneumonia measurement null http://www.ebi.ac.uk/efo/EFO_0008410 node Orphanet_2307 IVIC syndrome null http://www.orpha.net/ORDO/Orphanet_2307 node NCBITaxon_9014 Colinus virginianus null http://purl.obolibrary.org/obo/NCBITaxon_9014 node MONDO_0001999 primary pulmonary hypertension null http://purl.obolibrary.org/obo/MONDO_0001999 node NCBITaxon_79824 Andropogon gerardii null http://purl.obolibrary.org/obo/NCBITaxon_79824 node Orphanet_419 Hyperprolinemia type 1 null http://www.orpha.net/ORDO/Orphanet_419 node EFO_0000225 acute quadriplegic myopathy null http://www.ebi.ac.uk/efo/EFO_0000225 node Orphanet_171442 Adult-onset nemaline myopathy null http://www.orpha.net/ORDO/Orphanet_171442 node EFO_0000706 spondyloarthropathy null http://www.ebi.ac.uk/efo/EFO_0000706 node EFO_0008011 a disintegrin and metalloproteinase with thrombospondin motifs 13 null http://www.ebi.ac.uk/efo/EFO_0008011 node NCBITaxon_416870 Lactococcus lactis subsp. cremoris MG1363 null http://purl.obolibrary.org/obo/NCBITaxon_416870 node Orphanet_284973 Marfan syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_284973 node Orphanet_284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia null http://www.orpha.net/ORDO/Orphanet_284332 node CHEBI_90302 triacylglycerol 52:1 null http://purl.obolibrary.org/obo/CHEBI_90302 node CL_0000795 CD8-positive, alpha-beta regulatory T cell null http://purl.obolibrary.org/obo/CL_0000795 node EFO_0000313 carcinoma null http://www.ebi.ac.uk/efo/EFO_0000313 node CHEBI_27487 3-(imidazol-5-yl)lactic acid null http://purl.obolibrary.org/obo/CHEBI_27487 node Orphanet_1215 Autosomal dominant optic atrophy plus syndrome null http://www.orpha.net/ORDO/Orphanet_1215 node EFO_0005424 dyslexia null http://www.ebi.ac.uk/efo/EFO_0005424 node EFO_0002703 SNP array null http://www.ebi.ac.uk/efo/EFO_0002703 node NCBITaxon_114525 Saccharomyces mikatae null http://purl.obolibrary.org/obo/NCBITaxon_114525 node EFO_0000055 CS57660 null http://www.ebi.ac.uk/efo/EFO_0000055 node EFO_0006940 optic cup area measurement null http://www.ebi.ac.uk/efo/EFO_0006940 node CHEBI_8050 phenacetin null http://purl.obolibrary.org/obo/CHEBI_8050 node Orphanet_313800 Optic nerve edema-splenomegaly syndrome null http://www.orpha.net/ORDO/Orphanet_313800 node MONDO_0100196 TPM2-related myopathy The most penetrant phenotype among all of the TPM2-related myopathy disease entities is muscular weakness. Notably, other developmental disorders such as distal arthrogryposis have also been reported in association with TPM2 mutations. While phenotypic and mechanistic similarities demonstrate that the TPM2-related myopathy disorders share a similar pathogenic mechanism, these developmental disorders characterized primarily by contractures are not considered part of the same spectrum as this entity. http://purl.obolibrary.org/obo/MONDO_0100196 node Orphanet_70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency null http://www.orpha.net/ORDO/Orphanet_70594 node CL_0000902 induced T-regulatory cell null http://purl.obolibrary.org/obo/CL_0000902 node EFO_0010270 Menstrual disorder null http://www.ebi.ac.uk/efo/EFO_0010270 node EFO_0002310 OE33 null http://www.ebi.ac.uk/efo/EFO_0002310 node MONDO_0016047 endophthalmitis null http://purl.obolibrary.org/obo/MONDO_0016047 node MONDO_0021533 intestinal neuroendocrine tumor G1 null http://purl.obolibrary.org/obo/MONDO_0021533 node MONDO_0056820 nasal cavity and paranasal sinus neoplasm Editor note: TODO add uberon term http://purl.obolibrary.org/obo/MONDO_0056820 node EFO_0004033 experiment accession null http://www.ebi.ac.uk/efo/EFO_0004033 node PO_0009062 gynoecium The female reproductive organs of a flower; the pistil or pistils considered as a group. http://purl.obolibrary.org/obo/PO_0009062 node EFO_0000143 CS57847 null http://www.ebi.ac.uk/efo/EFO_0000143 node EFO_0007790 Epstein Barr virus nuclear antigen 1 IgG measurement null http://www.ebi.ac.uk/efo/EFO_0007790 node PO_0007081 early rosette growth stage null http://purl.obolibrary.org/obo/PO_0007081 node MONDO_0018723 rare vascular malformation of major vessels null http://purl.obolibrary.org/obo/MONDO_0018723 node Orphanet_85275 Microphthalmia - ankyloblepharon - intellectual disability null http://www.orpha.net/ORDO/Orphanet_85275 node EFO_0007477 scarlet fever null http://www.ebi.ac.uk/efo/EFO_0007477 node EFO_0001780 clinical history design null http://www.ebi.ac.uk/efo/EFO_0001780 node CHEBI_62946 ammonium sulfate null http://purl.obolibrary.org/obo/CHEBI_62946 node MONDO_0021036 keratosis pilaris null http://purl.obolibrary.org/obo/MONDO_0021036 node HP_0012115 Hepatitis null http://purl.obolibrary.org/obo/HP_0012115 node Orphanet_97238 Rippling muscle disease null http://www.orpha.net/ORDO/Orphanet_97238 node Orphanet_77300 Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities null http://www.orpha.net/ORDO/Orphanet_77300 node EFO_0008248 neutrophil collagenase measurement null http://www.ebi.ac.uk/efo/EFO_0008248 node Orphanet_98159 Chromosome X structural anomaly null http://www.orpha.net/ORDO/Orphanet_98159 node MONDO_0025082 helminthiasis, animal null http://purl.obolibrary.org/obo/MONDO_0025082 node Orphanet_68366 Lysosomal disease null http://www.orpha.net/ORDO/Orphanet_68366 node EFO_0000529 obsolete_hereditary spastic paraplegia null http://www.ebi.ac.uk/efo/EFO_0000529 node CHEBI_58877 glycochenodeoxycholate 7-sulfate(2-) null http://purl.obolibrary.org/obo/CHEBI_58877 node Orphanet_329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement null http://www.orpha.net/ORDO/Orphanet_329235 node MONDO_0021257 glomus jugulare neoplasm Editor note: consider merging with jugulotympanic paraganglioma http://purl.obolibrary.org/obo/MONDO_0021257 node EFO_0002821 CTLL-2 null http://www.ebi.ac.uk/efo/EFO_0002821 node EFO_0007078 HUES13 null http://www.ebi.ac.uk/efo/EFO_0007078 node MONDO_0003376 mediastinum leiomyosarcoma null http://purl.obolibrary.org/obo/MONDO_0003376 node EFO_0006537 BEN null http://www.ebi.ac.uk/efo/EFO_0006537 node EO_0007174 cold temperature regimen null http://purl.obolibrary.org/obo/EO_0007174 node EFO_0003889 functional laterality null http://www.ebi.ac.uk/efo/EFO_0003889 node HP_0007333 Hypoplasia of the frontal lobes null http://purl.obolibrary.org/obo/HP_0007333 node Orphanet_262101 Partial deletion of the long arm of chromosome 13 null http://www.orpha.net/ORDO/Orphanet_262101 node UBERON_0000972 antenna null http://purl.obolibrary.org/obo/UBERON_0000972 node EFO_1000199 Columnar Cell Hyperplasia of the Breast null http://www.ebi.ac.uk/efo/EFO_1000199 node EFO_0008093 complement component C7 measurement null http://www.ebi.ac.uk/efo/EFO_0008093 node EFO_0007166 bartonellosis null http://www.ebi.ac.uk/efo/EFO_0007166 node EFO_0006625 KURAMOCHI null http://www.ebi.ac.uk/efo/EFO_0006625 node Orphanet_98949 Complete cryptophthalmia null http://www.orpha.net/ORDO/Orphanet_98949 node CHEBI_18005 keto-phenylpyruvate null http://purl.obolibrary.org/obo/CHEBI_18005 node Orphanet_93560 Familial renal amyloidosis due to Apolipoprotein AI variant null http://www.orpha.net/ORDO/Orphanet_93560 node HP_0000402 Stenosis of the external auditory canal null http://purl.obolibrary.org/obo/HP_0000402 node Orphanet_2394 Pyruvate dehydrogenase E3 deficiency null http://www.orpha.net/ORDO/Orphanet_2394 node EFO_1000287 Growth Hormone-Producing Pituitary Gland Adenoma null http://www.ebi.ac.uk/efo/EFO_1000287 node Orphanet_276252 Xeroderma pigmentosum complementation group B null http://www.orpha.net/ORDO/Orphanet_276252 node Orphanet_2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome null http://www.orpha.net/ORDO/Orphanet_2698 node EFO_0008181 interleukin 23 receptor measurement null http://www.ebi.ac.uk/efo/EFO_0008181 node EFO_0007254 enterobiasis null http://www.ebi.ac.uk/efo/EFO_0007254 node BTO_0001516 BA/F3 cell null http://purl.obolibrary.org/obo/BTO_0001516 node MONDO_0002043 ectropion (disease) null http://purl.obolibrary.org/obo/MONDO_0002043 node CHEBI_22707 benzenetriols null http://purl.obolibrary.org/obo/CHEBI_22707 node CL_0002079 pancreatic ductal cell null http://purl.obolibrary.org/obo/CL_0002079 node EFO_1000989 intestinal volvulus null http://www.ebi.ac.uk/efo/EFO_1000989 node MONDO_0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation null http://purl.obolibrary.org/obo/MONDO_0014700 node HP_0006677 Prolonged QRS complex null http://purl.obolibrary.org/obo/HP_0006677 node Orphanet_93443 Neonatal osteosclerotic dysplasia null http://www.orpha.net/ORDO/Orphanet_93443 node Orphanet_2482 Melhem-Fahl syndrome null http://www.orpha.net/ORDO/Orphanet_2482 node CL_0000984 IgA plasmablast null http://purl.obolibrary.org/obo/CL_0000984 node EFO_0009035 Combined oxidative phosphorylation defect type 25 null http://www.ebi.ac.uk/efo/EFO_0009035 node UO_0000024 nanogram null http://purl.obolibrary.org/obo/UO_0000024 node MONDO_0044986 lymphoid system disease null http://purl.obolibrary.org/obo/MONDO_0044986 node Orphanet_898 Wagner disease null http://www.orpha.net/ORDO/Orphanet_898 node EFO_1000610 Ureter Small Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000610 node HP_0002883 Hyperventilation null http://purl.obolibrary.org/obo/HP_0002883 node EFO_0009258 peak-valley respiratory sinus arrhythmia or high frequency power null http://www.ebi.ac.uk/efo/EFO_0009258 node EFO_1001229 maculopapular cutaneous mastocytosis null http://www.ebi.ac.uk/efo/EFO_1001229 node EFO_0003936 obsolete_physiological process null http://www.ebi.ac.uk/efo/EFO_0003936 node CHEBI_85757 triacylglycerol 58:6 null http://purl.obolibrary.org/obo/CHEBI_85757 node Orphanet_293707 Blepharophimosis-intellectual disability syndrome, MKB type null http://www.orpha.net/ORDO/Orphanet_293707 node CL_0000867 secondary lymphoid organ macrophage null http://purl.obolibrary.org/obo/CL_0000867 node EFO_0002457 obsolete_hippocampus CA4 null http://www.ebi.ac.uk/efo/EFO_0002457 node EFO_0005659 plasma beta-amyloid 1-40 measurement null http://www.ebi.ac.uk/efo/EFO_0005659 node UBERON_2001279 branchiostegal ray 1 null http://purl.obolibrary.org/obo/UBERON_2001279 node EFO_0002938 hypopharyngeal carcinoma Carcinoma, predominantly squamous cell, arising from epithelial cells of the hypopharynx http://www.ebi.ac.uk/efo/EFO_0002938 node UBERON_0003690 fused sacrum null http://purl.obolibrary.org/obo/UBERON_0003690 node Orphanet_1185 Spinocerebellar ataxia - dysmorphism null http://www.orpha.net/ORDO/Orphanet_1185 node OBI_0000659 specimen collection process null http://purl.obolibrary.org/obo/OBI_0000659 node EFO_0009346 Hepatitis B virus core antigen seropositivity null http://www.ebi.ac.uk/efo/EFO_0009346 node Orphanet_207119 Qualitative or quantitative defects of FKRP null http://www.orpha.net/ORDO/Orphanet_207119 node EFO_0002545 obsolete_endoderm null http://www.ebi.ac.uk/efo/EFO_0002545 node CLO_0013962 GM17157 null http://purl.obolibrary.org/obo/CLO_0013962 node MONDO_0020638 superficial spreading melanoma null http://purl.obolibrary.org/obo/MONDO_0020638 node GO_0002682 regulation of immune system process null http://purl.obolibrary.org/obo/GO_0002682 node HP_0000225 Gingival bleeding null http://purl.obolibrary.org/obo/HP_0000225 node FBbt_00000127 head mesoderm null http://purl.obolibrary.org/obo/FBbt_00000127 node MONDO_0004021 mediastinal malignant lymphoma null http://purl.obolibrary.org/obo/MONDO_0004021 node CLO_0013095 GM17283 null http://purl.obolibrary.org/obo/CLO_0013095 node OBI_0000924 labeled specimen null http://purl.obolibrary.org/obo/OBI_0000924 node MONDO_0020012 systemic or rheumatic disease Editor note: todo. ORDO includes vasculitis here but this is not normally included in the SARDs http://purl.obolibrary.org/obo/MONDO_0020012 node CHEBI_41423 celecoxib null http://purl.obolibrary.org/obo/CHEBI_41423 node OBI_0000747 material sample null http://purl.obolibrary.org/obo/OBI_0000747 node EFO_0005829 ML-DmD21 null http://www.ebi.ac.uk/efo/EFO_0005829 node Orphanet_261501 Atypical Norrie disease due to monosomy Xp11.3 null http://www.orpha.net/ORDO/Orphanet_261501 node Orphanet_96164 Non-distal monosomy 20q null http://www.orpha.net/ORDO/Orphanet_96164 node EFO_0004326 heart rate null http://www.ebi.ac.uk/efo/EFO_0004326 node PO_0007607 sepal primordium visible stage null http://purl.obolibrary.org/obo/PO_0007607 node Orphanet_165652 Rare genetic gastroenterological disease null http://www.orpha.net/ORDO/Orphanet_165652 node PO_0020124 root stele null http://purl.obolibrary.org/obo/PO_0020124 node UBERON_0003153 head capsule will be ceded to arthropod anatomy ontology http://purl.obolibrary.org/obo/UBERON_0003153 node MONDO_0020539 extragonadal non-dysgerminomatous germ cell tumor null http://purl.obolibrary.org/obo/MONDO_0020539 node MONDO_0100140 mild COVID-19 infection null http://purl.obolibrary.org/obo/MONDO_0100140 node MONDO_0060745 intellectual developmental disorder with or without epilepsy or cerebellar ataxia null http://purl.obolibrary.org/obo/MONDO_0060745 node UBERON_0001044 saliva-secreting gland null http://purl.obolibrary.org/obo/UBERON_0001044 node NCBITaxon_379508 Lodderomyces elongisporus NRRL YB-4239 null http://purl.obolibrary.org/obo/NCBITaxon_379508 node NCBITaxon_143451 Plasmopara viticola null http://purl.obolibrary.org/obo/NCBITaxon_143451 node MONDO_0001198 acquired thrombocytopenia null http://purl.obolibrary.org/obo/MONDO_0001198 node EFO_0005917 generalised epilepsy null http://www.ebi.ac.uk/efo/EFO_0005917 node Orphanet_295081 Fibular hemimelia, unilateral null http://www.orpha.net/ORDO/Orphanet_295081 node CLO_0027493 GM15213 null http://purl.obolibrary.org/obo/CLO_0027493 node EFO_0004414 joule per square meter null http://www.ebi.ac.uk/efo/EFO_0004414 node Orphanet_228402 2q23.1 microdeletion syndrome Editor note: TODO check ORDO xref to OMIM http://www.orpha.net/ORDO/Orphanet_228402 node UBERON_0006597 quadrate bone null http://purl.obolibrary.org/obo/UBERON_0006597 node MONDO_0007954 May-Hegglin anomaly null http://purl.obolibrary.org/obo/MONDO_0007954 node EFO_0008962 TARDIS null http://www.ebi.ac.uk/efo/EFO_0008962 node NCBITaxon_223926 Vibrio parahaemolyticus RIMD 2210633 null http://purl.obolibrary.org/obo/NCBITaxon_223926 node NCBITaxon_9600 Pongo pygmaeus null http://purl.obolibrary.org/obo/NCBITaxon_9600 node EFO_0003069 obsolete_elbow null http://www.ebi.ac.uk/efo/EFO_0003069 node MONDO_0018438 eosinophilic gastrointestinal disease null http://purl.obolibrary.org/obo/MONDO_0018438 node HP_0007803 Monochromacy Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of grey. http://purl.obolibrary.org/obo/HP_0007803 node Orphanet_231040 Familial generalized lentiginosis null http://www.orpha.net/ORDO/Orphanet_231040 node EFO_0006379 COLO 849 null http://www.ebi.ac.uk/efo/EFO_0006379 node CHEBI_17306 maltose null http://purl.obolibrary.org/obo/CHEBI_17306 node EFO_0006421 HCC0630 null http://www.ebi.ac.uk/efo/EFO_0006421 node CLO_0015119 GM17123 null http://purl.obolibrary.org/obo/CLO_0015119 node Orphanet_79397 Epidermolysis bullosa simplex with mottled pigmentation null http://www.orpha.net/ORDO/Orphanet_79397 node MONDO_0021312 malignant tumor of adrenal cortex null http://purl.obolibrary.org/obo/MONDO_0021312 node NCBITaxon_23211 Pyrus communis null http://purl.obolibrary.org/obo/NCBITaxon_23211 node Orphanet_2671 Neu-Laxova syndrome null http://www.orpha.net/ORDO/Orphanet_2671 node EFO_0010209 UMI barcode size null http://www.ebi.ac.uk/efo/EFO_0010209 node Orphanet_783 Rubinstein-Taybi syndrome null http://www.orpha.net/ORDO/Orphanet_783 node UO_0000213 colony forming unit per milliliter null http://purl.obolibrary.org/obo/UO_0000213 node Orphanet_98805 Primary dystonia, DYT4 type null http://www.orpha.net/ORDO/Orphanet_98805 node Orphanet_309178 Tay-Sachs disease, B variant, infantile form null http://www.orpha.net/ORDO/Orphanet_309178 node Orphanet_263455 Hyperinsulinism due to HNF4A deficiency null http://www.orpha.net/ORDO/Orphanet_263455 node EFO_0006304 T265 null http://www.ebi.ac.uk/efo/EFO_0006304 node EFO_0000004 CS57515 null http://www.ebi.ac.uk/efo/EFO_0000004 node CL_0002460 CD8alpha-negative thymic conventional dendritic cell null http://purl.obolibrary.org/obo/CL_0002460 node Orphanet_79485 Phakomatosis spilorosea null http://www.orpha.net/ORDO/Orphanet_79485 node EFO_0010630 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies null http://www.ebi.ac.uk/efo/EFO_0010630 node MONDO_0060491 neurodevelopmental disorder with involuntary movements Editor note: todo - check orphanet xref http://purl.obolibrary.org/obo/MONDO_0060491 node Orphanet_79322 DPM1-CDG null http://www.orpha.net/ORDO/Orphanet_79322 node EFO_0005115 metabolic rate measurement null http://www.ebi.ac.uk/efo/EFO_0005115 node EFO_0006702 NUGC-3 null http://www.ebi.ac.uk/efo/EFO_0006702 node NCBITaxon_160 Treponema pallidum null http://purl.obolibrary.org/obo/NCBITaxon_160 node Orphanet_85136 Cystic leukoencephalopathy without megalencephaly null http://www.orpha.net/ORDO/Orphanet_85136 node Orphanet_871 Familial progressive cardiac conduction defect null http://www.orpha.net/ORDO/Orphanet_871 node EFO_0001641 epithelial cell derived cell line null http://www.ebi.ac.uk/efo/EFO_0001641 node Orphanet_666 Osteogenesis imperfecta null http://www.orpha.net/ORDO/Orphanet_666 node UO_0000301 microgram per liter null http://purl.obolibrary.org/obo/UO_0000301 node HP_0000892 Bifid ribs null http://purl.obolibrary.org/obo/HP_0000892 node MONDO_0002677 conventional fibrosarcoma null http://purl.obolibrary.org/obo/MONDO_0002677 node EFO_0001945 obsolete_superior cervical ganglion null http://www.ebi.ac.uk/efo/EFO_0001945 node Orphanet_79410 Pretibial dystrophic epidermolysis bullosa null http://www.orpha.net/ORDO/Orphanet_79410 node EFO_0007331 islet cell tumor Editor note: classified as carcinoma in EFO http://www.ebi.ac.uk/efo/EFO_0007331 node CL_0002343 decidual natural killer cell, human null http://purl.obolibrary.org/obo/CL_0002343 node Orphanet_3132 Say-Barber-Miller syndrome null http://www.orpha.net/ORDO/Orphanet_3132 node EFO_0004585 naphthyl-keratin adduct measurement null http://www.ebi.ac.uk/efo/EFO_0004585 node EO_0007269 growth chamber study null http://purl.obolibrary.org/obo/EO_0007269 node MONDO_0045036 primary infectious null http://purl.obolibrary.org/obo/MONDO_0045036 node EFO_0001758 genetic modification design null http://www.ebi.ac.uk/efo/EFO_0001758 node Orphanet_319199 Autosomal recessive spastic paraplegia type 53 null http://www.orpha.net/ORDO/Orphanet_319199 node EFO_0008608 radiotherapy-induced pemphigus null http://www.ebi.ac.uk/efo/EFO_0008608 node EFO_0005203 eating disorder null http://www.ebi.ac.uk/efo/EFO_0005203 node Orphanet_98633 Goniodysgenesis null http://www.orpha.net/ORDO/Orphanet_98633 node MONDO_0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant null http://purl.obolibrary.org/obo/MONDO_0032928 node CLO_0014898 GM17103 null http://purl.obolibrary.org/obo/CLO_0014898 node Orphanet_88629 Tritanopia null http://www.orpha.net/ORDO/Orphanet_88629 node Orphanet_754 Androgen insensitivity syndrome null http://www.orpha.net/ORDO/Orphanet_754 node NCBITaxon_34 Myxococcus xanthus null http://purl.obolibrary.org/obo/NCBITaxon_34 node EFO_0007858 eye morphology measurement null http://www.ebi.ac.uk/efo/EFO_0007858 node Orphanet_2863 Short stature - wormian bones - dextrocardia null http://www.orpha.net/ORDO/Orphanet_2863 node Orphanet_3015 Radio-renal syndrome null http://www.orpha.net/ORDO/Orphanet_3015 node CHEBI_50131 5-aza-2'-deoxycytidine null http://purl.obolibrary.org/obo/CHEBI_50131 node EFO_0007168 berylliosis null http://www.ebi.ac.uk/efo/EFO_0007168 node EFO_0008215 lysosomal protective protein measurement null http://www.ebi.ac.uk/efo/EFO_0008215 node HP_0031284 Flushing Flushing can occur on the face, neck and, less frequently, the upper trunk and abdomen. http://purl.obolibrary.org/obo/HP_0031284 node EFO_0003088 obsolete_ventricular myocardium null http://www.ebi.ac.uk/efo/EFO_0003088 node PO_0000025 root tip null http://purl.obolibrary.org/obo/PO_0000025 node Orphanet_285 Ehlers-Danlos syndrome, hypermobility type null http://www.orpha.net/ORDO/Orphanet_285 node Orphanet_91130 Cardiomyopathy - hypotonia - lactic acidosis null http://www.orpha.net/ORDO/Orphanet_91130 node EFO_1001391 Periapical Periodontitis null http://www.ebi.ac.uk/efo/EFO_1001391 node EFO_1000464 PEComa MeSH defintion: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002). http://www.ebi.ac.uk/efo/EFO_1000464 node EFO_0004894 obsolete_tetralogy of fallot null http://www.ebi.ac.uk/efo/EFO_0004894 node Orphanet_90026 Primary erythermalgia Editor note: consider link to MONDO:0016028 http://www.orpha.net/ORDO/Orphanet_90026 node EFO_0010561 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies null http://www.ebi.ac.uk/efo/EFO_0010561 node EFO_0009844 nightmare null http://www.ebi.ac.uk/efo/EFO_0009844 node NCBITaxon_29583 Funaria hygrometrica null http://purl.obolibrary.org/obo/NCBITaxon_29583 node EFO_1000148 Calcifying Fibrous Tumor null http://www.ebi.ac.uk/efo/EFO_1000148 node EFO_0009200 Eisenmenger syndrome null http://www.ebi.ac.uk/efo/EFO_0009200 node HP_0002574 Episodic abdominal pain null http://purl.obolibrary.org/obo/HP_0002574 node CHEBI_64142 tropanyl 3,5-dimethylbenzoate null http://purl.obolibrary.org/obo/CHEBI_64142 node EFO_0007256 enzootic pneumonia of calves null http://www.ebi.ac.uk/efo/EFO_0007256 node EFO_0002148 CaOv3 null http://www.ebi.ac.uk/efo/EFO_0002148 node Orphanet_373 Simpson-Golabi-Behmel syndrome null http://www.orpha.net/ORDO/Orphanet_373 node Orphanet_280210 Pelizaeus-Merzbacher disease, connatal form null http://www.orpha.net/ORDO/Orphanet_280210 node EFO_0009423 CXCL6 measurement null http://www.ebi.ac.uk/efo/EFO_0009423 node EFO_1000552 Subcutaneous Panniculitis-Like T-Cell Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000552 node EFO_0009904 Lopes-Maciel-Rodan syndrome null http://www.ebi.ac.uk/efo/EFO_0009904 node NCBITaxon_11069 Dengue virus 3 null http://purl.obolibrary.org/obo/NCBITaxon_11069 node EFO_0004982 microbiome null http://www.ebi.ac.uk/efo/EFO_0004982 node EFO_0009727 shortness of breath null http://www.ebi.ac.uk/efo/EFO_0009727 node EFO_0003411 obsolete_embryonic hypocerebral ganglion null http://www.ebi.ac.uk/efo/EFO_0003411 node EFO_0005134 amino acid measurement null http://www.ebi.ac.uk/efo/EFO_0005134 node EFO_1000236 Endometrial Mucinous Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000236 node EFO_0009037 Combined oxidative phosphorylation defect type 27 null http://www.ebi.ac.uk/efo/EFO_0009037 node EFO_0003340 obsolete_posterior endoderm anlage null http://www.ebi.ac.uk/efo/EFO_0003340 node EFO_0003739 sequencer null http://www.ebi.ac.uk/efo/EFO_0003739 node EFO_1000049 pulmonary tuberculosis null http://www.ebi.ac.uk/efo/EFO_1000049 node EFO_0001309 larval day 7-13 null http://www.ebi.ac.uk/efo/EFO_0001309 node EFO_0002236 MIA Paca-2 null http://www.ebi.ac.uk/efo/EFO_0002236 node EFO_0010689 perineum disease null http://www.ebi.ac.uk/efo/EFO_0010689 node EFO_0000086 CS57751 null http://www.ebi.ac.uk/efo/EFO_0000086 node EFO_0006971 Poppelsdorf ecotype null http://www.ebi.ac.uk/efo/EFO_0006971 node EFO_0009511 abnormal PAP smear null http://www.ebi.ac.uk/efo/EFO_0009511 node EFO_1000938 fibromuscular dysplasia null http://www.ebi.ac.uk/efo/EFO_1000938 node MONDO_0018843 embryonal carcinoma of the central nervous system null http://purl.obolibrary.org/obo/MONDO_0018843 node EFO_0006784 body height at birth null http://www.ebi.ac.uk/efo/EFO_0006784 node MONDO_0044794 benign melanocytic skin nevus Editor note: TODO logical def http://purl.obolibrary.org/obo/MONDO_0044794 node GO_0031644 regulation of neurological system process null http://purl.obolibrary.org/obo/GO_0031644 node Orphanet_171439 Childhood-onset nemaline myopathy null http://www.orpha.net/ORDO/Orphanet_171439 node Orphanet_96060 Mosaic trisomy 5 null http://www.orpha.net/ORDO/Orphanet_96060 node EFO_0010296 corpus callosum central volume measurement null http://www.ebi.ac.uk/efo/EFO_0010296 node EFO_0004190 open-angle glaucoma null http://www.ebi.ac.uk/efo/EFO_0004190 node EFO_0010777 CXCL1 measurement null http://www.ebi.ac.uk/efo/EFO_0010777 node NCBITaxon_47770 Lactobacillus crispatus null http://purl.obolibrary.org/obo/NCBITaxon_47770 node PO_0004532 wood parenchyma null http://purl.obolibrary.org/obo/PO_0004532 node Orphanet_98892 Periventricular nodular heterotopia null http://www.orpha.net/ORDO/Orphanet_98892 node Orphanet_2022 Endomyocardial fibroelastosis null http://www.orpha.net/ORDO/Orphanet_2022 node EFO_1001943 childhood acute megakaryoblastic leukemia null http://www.ebi.ac.uk/efo/EFO_1001943 node EFO_0006872 delta wave measurement null http://www.ebi.ac.uk/efo/EFO_0006872 node CHEBI_28659 phosphorus null http://purl.obolibrary.org/obo/CHEBI_28659 node MONDO_0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly null http://purl.obolibrary.org/obo/MONDO_0017346 node EFO_1001766 brain hypoxia null http://www.ebi.ac.uk/efo/EFO_1001766 node EFO_1001076 orbital cellulitis null http://www.ebi.ac.uk/efo/EFO_1001076 node MONDO_0021249 lip neoplasm null http://purl.obolibrary.org/obo/MONDO_0021249 node EFO_0000395 delivery method null http://www.ebi.ac.uk/efo/EFO_0000395 node MONDO_0021812 adnexal spiradenoma/cylindroma of a sweat gland Editor note: See GARD:0010464 http://purl.obolibrary.org/obo/MONDO_0021812 node CLO_0013823 GM17198 null http://purl.obolibrary.org/obo/CLO_0013823 node EFO_0005608 cortical opacity measurement null http://www.ebi.ac.uk/efo/EFO_0005608 node EFO_0010384 phosphatidylcholine 38:2 measurement null http://www.ebi.ac.uk/efo/EFO_0010384 node NCBITaxon_83816 Methanobrevibacter ruminantium null http://purl.obolibrary.org/obo/NCBITaxon_83816 node MONDO_0023419 hyperprolinemia null http://purl.obolibrary.org/obo/MONDO_0023419 node Orphanet_2139 Hernández-Aguirre Negrete syndrome null http://www.orpha.net/ORDO/Orphanet_2139 node EFO_0010865 HG03066 null http://www.ebi.ac.uk/efo/EFO_0010865 node UBERON_0003027 cingulate cortex null http://purl.obolibrary.org/obo/UBERON_0003027 node Orphanet_98980 Cogan-Reese syndrome null http://www.orpha.net/ORDO/Orphanet_98980 node Orphanet_314034 7p22.1 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_314034 node EFO_0000502 ganglioneuroblastoma null http://www.ebi.ac.uk/efo/EFO_0000502 node HP_0025267 Snoring null http://purl.obolibrary.org/obo/HP_0025267 node EFO_1002006 treatment-resistant hypertension null http://www.ebi.ac.uk/efo/EFO_1002006 node HP_0012234 Agranulocytosis Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter. http://purl.obolibrary.org/obo/HP_0012234 node MONDO_0010432 thrombophilia, X-linked, due to factor 9 defect null http://purl.obolibrary.org/obo/MONDO_0010432 node EFO_0002307 NCI-H838 null http://www.ebi.ac.uk/efo/EFO_0002307 node CL_0000165 neuroendocrine cell null http://purl.obolibrary.org/obo/CL_0000165 node EFO_0008765 HiTS-Flip null http://www.ebi.ac.uk/efo/EFO_0008765 node CHEBI_9516 thapsigargin null http://purl.obolibrary.org/obo/CHEBI_9516 node Orphanet_474 Jeune syndrome null http://www.orpha.net/ORDO/Orphanet_474 node EFO_0008578 sperm motility measurement null http://www.ebi.ac.uk/efo/EFO_0008578 node CHEBI_78796 nonadecanoate null http://purl.obolibrary.org/obo/CHEBI_78796 node MONDO_0019165 central precocious puberty null http://purl.obolibrary.org/obo/MONDO_0019165 node CL_0002151 late promyelocyte null http://purl.obolibrary.org/obo/CL_0002151 node CHEBI_17026 progesterone null http://purl.obolibrary.org/obo/CHEBI_17026 node CHEBI_18257 ornithine null http://purl.obolibrary.org/obo/CHEBI_18257 node Orphanet_309778 Defect in V-ATPase null http://www.orpha.net/ORDO/Orphanet_309778 node PO_0009064 receptacle The fleshy part of a strawberry develops from a receptacle. http://purl.obolibrary.org/obo/PO_0009064 node GO_0006164 purine nucleotide biosynthetic process null http://purl.obolibrary.org/obo/GO_0006164 node MONDO_0060507 retinal dystrophy with or without macular staphyloma null http://purl.obolibrary.org/obo/MONDO_0060507 node Orphanet_562 McCune-Albright syndrome null http://www.orpha.net/ORDO/Orphanet_562 node Orphanet_250977 AICA-ribosiduria null http://www.orpha.net/ORDO/Orphanet_250977 node EFO_0008666 BSAS null http://www.ebi.ac.uk/efo/EFO_0008666 node CLO_0018566 ND06449 null http://purl.obolibrary.org/obo/CLO_0018566 node UO_0000016 millimeter null http://purl.obolibrary.org/obo/UO_0000016 node NCBITaxon_7936 Anguilla anguilla null http://purl.obolibrary.org/obo/NCBITaxon_7936 node EFO_0007666 lobe size null http://www.ebi.ac.uk/efo/EFO_0007666 node MONDO_0002368 papillary serous cystadenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0002368 node EFO_0007022 Zea mays cv. B73 null http://www.ebi.ac.uk/efo/EFO_0007022 node HP_0000396 Overfolded helix This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable. http://purl.obolibrary.org/obo/HP_0000396 node PATO_0001393 euploid null http://purl.obolibrary.org/obo/PATO_0001393 node CL_0002052 Fraction D precursor B cell Fraction D precursor B cells are also reportedly CD24-positive and sIgD-negative. http://purl.obolibrary.org/obo/CL_0002052 node HANCESTRO_0290 genetically isolated population null http://purl.obolibrary.org/obo/HANCESTRO_0290 node Orphanet_2250 Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism null http://www.orpha.net/ORDO/Orphanet_2250 node EFO_0001420 obsolete_sepsis null http://www.ebi.ac.uk/efo/EFO_0001420 node CHEBI_68616 N-cinnamoylglycine null http://purl.obolibrary.org/obo/CHEBI_68616 node EFO_0009700 visual perception measurement null http://www.ebi.ac.uk/efo/EFO_0009700 node EFO_0007549 Zollinger-Ellison Syndrome null http://www.ebi.ac.uk/efo/EFO_0007549 node EFO_0001233 S2 null http://www.ebi.ac.uk/efo/EFO_0001233 node EFO_0003590 obsolete_lateral mesenchyme derived from mesoderm null http://www.ebi.ac.uk/efo/EFO_0003590 node Orphanet_284993 Marfan and Marfan-related disorder null http://www.orpha.net/ORDO/Orphanet_284993 node EFO_0007110 iPS-27e null http://www.ebi.ac.uk/efo/EFO_0007110 node MONDO_0014428 autosomal recessive nonsyndromic deafness 102 null http://purl.obolibrary.org/obo/MONDO_0014428 node MONDO_0004627 duodenitis null http://purl.obolibrary.org/obo/MONDO_0004627 node Orphanet_1879 Melorheostosis with osteopoikilosis null http://www.orpha.net/ORDO/Orphanet_1879 node Orphanet_99657 Primary dystonia, DYT2 type null http://www.orpha.net/ORDO/Orphanet_99657 node EFO_1000911 dystocia null http://www.ebi.ac.uk/efo/EFO_1000911 node EFO_0007333 jaw cancer null http://www.ebi.ac.uk/efo/EFO_0007333 node EFO_0008178 interleukin 18 receptor 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008178 node Orphanet_163634 Maffucci syndrome null http://www.orpha.net/ORDO/Orphanet_163634 node EFO_0009690 urinary system disease null http://www.ebi.ac.uk/efo/EFO_0009690 node MONDO_0001240 neonatal anemia null http://purl.obolibrary.org/obo/MONDO_0001240 node HP_0002979 Bowing of the legs null http://purl.obolibrary.org/obo/HP_0002979 node EFO_0001321 segmentation 26+ somites null http://www.ebi.ac.uk/efo/EFO_0001321 node CLO_0013993 GM17165 null http://purl.obolibrary.org/obo/CLO_0013993 node EFO_0003491 obsolete_brain vasculature null http://www.ebi.ac.uk/efo/EFO_0003491 node Orphanet_280615 Hemoglobinopathy Toms River null http://www.orpha.net/ORDO/Orphanet_280615 node Orphanet_357237 Severe combined immunodeficiency due to CARD11 deficiency null http://www.orpha.net/ORDO/Orphanet_357237 node HP_0000256 Macrocephaly Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. http://purl.obolibrary.org/obo/HP_0000256 node EFO_0002974 ILSXISS13/TejJ null http://www.ebi.ac.uk/efo/EFO_0002974 node EFO_0007421 paronychia null http://www.ebi.ac.uk/efo/EFO_0007421 node NCBITaxon_37011 Pan troglodytes troglodytes null http://purl.obolibrary.org/obo/NCBITaxon_37011 node MONDO_0004528 lymph node palisaded myofibroblastoma null http://purl.obolibrary.org/obo/MONDO_0004528 node HP_0000069 Abnormality of the ureter null http://purl.obolibrary.org/obo/HP_0000069 node EFO_0009591 verbal memory measurement null http://www.ebi.ac.uk/efo/EFO_0009591 node EFO_0004534 creatine kinase measurement null http://www.ebi.ac.uk/efo/EFO_0004534 node PO_0005417 phloem Functions in the conduction of organic substances in vascular plants. http://purl.obolibrary.org/obo/PO_0005417 node MONDO_0004938 substance dependence null http://purl.obolibrary.org/obo/MONDO_0004938 node CL_0000588 odontoclast null http://purl.obolibrary.org/obo/CL_0000588 node EFO_0004357 electroencephalogram measurement null http://www.ebi.ac.uk/efo/EFO_0004357 node Orphanet_391711 Persistent combined dystonia null http://www.orpha.net/ORDO/Orphanet_391711 node Orphanet_231401 Alpha-thalassemia - myelodysplastic syndrome null http://www.orpha.net/ORDO/Orphanet_231401 node Orphanet_220436 Quebec platelet disorder null http://www.orpha.net/ORDO/Orphanet_220436 node MONDO_0008905 predisposition to invasive fungal disease due to CARD9 deficiency null http://purl.obolibrary.org/obo/MONDO_0008905 node NCBITaxon_49786 Spartina maritima null http://purl.obolibrary.org/obo/NCBITaxon_49786 node CHEBI_143615 sphingomyelin 14:0 null http://purl.obolibrary.org/obo/CHEBI_143615 node Orphanet_99803 Haddad syndrome null http://www.orpha.net/ORDO/Orphanet_99803 node Orphanet_319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency null http://www.orpha.net/ORDO/Orphanet_319552 node EFO_0009202 Reticulocyte Mean Corpuscular Hemoglobin Measurement null http://www.ebi.ac.uk/efo/EFO_0009202 node NCBITaxon_4572 Triticum urartu null http://purl.obolibrary.org/obo/NCBITaxon_4572 node NCBITaxon_1747 Propionibacterium acnes null http://purl.obolibrary.org/obo/NCBITaxon_1747 node EFO_0000865 obsolete_pineal gland null http://www.ebi.ac.uk/efo/EFO_0000865 node Orphanet_397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy null http://www.orpha.net/ORDO/Orphanet_397715 node HP_0008956 Proximal lower limb amyotrophy null http://purl.obolibrary.org/obo/HP_0008956 node EFO_0000251 obsolete_amnioserosa anlage in statu nascendi null http://www.ebi.ac.uk/efo/EFO_0000251 node MONDO_0060589 facial palsy, congenital, with ptosis and velopharyngeal dysfunction null http://purl.obolibrary.org/obo/MONDO_0060589 node EFO_0005384 HuH-7 null http://www.ebi.ac.uk/efo/EFO_0005384 node NCBITaxon_9261 Tachyglossus aculeatus null http://purl.obolibrary.org/obo/NCBITaxon_9261 node Orphanet_289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_289307 node EFO_1001340 Heat Stroke null http://www.ebi.ac.uk/efo/EFO_1001340 node EFO_0001056 tuberculoid leprosy null http://www.ebi.ac.uk/efo/EFO_0001056 node EFO_0004258 obsolete_optic nerve null http://www.ebi.ac.uk/efo/EFO_0004258 node Orphanet_1561 Fatal infantile cytochrome C oxidase deficiency null http://www.orpha.net/ORDO/Orphanet_1561 node EFO_0000472 epigenetic factor null http://www.ebi.ac.uk/efo/EFO_0000472 node EFO_0004843 vitamin B measurement null http://www.ebi.ac.uk/efo/EFO_0004843 node EFO_0000953 obsolete_dermis null http://www.ebi.ac.uk/efo/EFO_0000953 node EFO_1001153 renovascular hypertension null http://www.ebi.ac.uk/efo/EFO_1001153 node EFO_0006587 Hs 675.T null http://www.ebi.ac.uk/efo/EFO_0006587 node UBERON_2000164 ventral mesenchyme null http://purl.obolibrary.org/obo/UBERON_2000164 node NCBITaxon_214684 Cryptococcus neoformans var. neoformans JEC21 null http://purl.obolibrary.org/obo/NCBITaxon_214684 node CHEBI_27584 aldosterone null http://purl.obolibrary.org/obo/CHEBI_27584 node CHEBI_17519 N-methyl-L-alanine null http://purl.obolibrary.org/obo/CHEBI_17519 node CL_0000840 immature conventional dendritic cell null http://purl.obolibrary.org/obo/CL_0000840 node Orphanet_228396 Ptosis - upper ocular movement limitation - absence of lacrimal punctum null http://www.orpha.net/ORDO/Orphanet_228396 node EFO_0010075 intertrochanteric region size null http://www.ebi.ac.uk/efo/EFO_0010075 node Orphanet_183469 Genetic hypopigmentation of the skin null http://www.orpha.net/ORDO/Orphanet_183469 node GO_0043655 extracellular space of host null http://purl.obolibrary.org/obo/GO_0043655 node EFO_0001144 GM12239 null http://www.ebi.ac.uk/efo/EFO_0001144 node MONDO_0000763 epithelial and subepithelial corneal dystrophy null http://purl.obolibrary.org/obo/MONDO_0000763 node EFO_0005285 A20 null http://www.ebi.ac.uk/efo/EFO_0005285 node EFO_0004931 MX distant metastasis stage null http://www.ebi.ac.uk/efo/EFO_0004931 node PO_0007073 2 formation of axillary shoot stage null http://purl.obolibrary.org/obo/PO_0007073 node HP_0032408 Breast mass The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. The differential diagnosis of a breast mass includes fibrocystic disease, fibroadenomas, breast cancer, mammary duct ectasia, and intraductal papilloma. http://purl.obolibrary.org/obo/HP_0032408 node EFO_1001241 Wernicke encephalopathy null http://www.ebi.ac.uk/efo/EFO_1001241 node EFO_0005671 smoking behaviour measurement null http://www.ebi.ac.uk/efo/EFO_0005671 node EFO_0004744 matrix metalloproteinase measurement null http://www.ebi.ac.uk/efo/EFO_0004744 node FBbt_00001724 prothoracic gland null http://purl.obolibrary.org/obo/FBbt_00001724 node Orphanet_100995 Autosomal recessive spastic paraplegia type 14 null http://www.orpha.net/ORDO/Orphanet_100995 node EFO_0003102 osteomyelitis null http://www.ebi.ac.uk/efo/EFO_0003102 node Orphanet_183557 Genetic developmental defect of the eye null http://www.orpha.net/ORDO/Orphanet_183557 node MONDO_0001822 hypolipoproteinemia (disease) null http://purl.obolibrary.org/obo/MONDO_0001822 node Orphanet_2767 Carpotarsal osteochondromatosis null http://www.orpha.net/ORDO/Orphanet_2767 node NCBITaxon_881 Desulfovibrio vulgaris null http://purl.obolibrary.org/obo/NCBITaxon_881 node Orphanet_98576 Malposition of external canthus null http://www.orpha.net/ORDO/Orphanet_98576 node NCBITaxon_3517 Alnus glutinosa null http://purl.obolibrary.org/obo/NCBITaxon_3517 node MONDO_0014497 polyendocrine-polyneuropathy syndrome null http://purl.obolibrary.org/obo/MONDO_0014497 node Orphanet_2988 Pterygium colli - intellectual disability - digital anomalies null http://www.orpha.net/ORDO/Orphanet_2988 node Orphanet_100014 Lissencephaly with cerebellar hypoplasia type D null http://www.orpha.net/ORDO/Orphanet_100014 node EFO_0010245 oxytocin measurement null http://www.ebi.ac.uk/efo/EFO_0010245 node EFO_0010726 total joint arthroplasty null http://www.ebi.ac.uk/efo/EFO_0010726 node EFO_0007522 trichostrongyloidiasis null http://www.ebi.ac.uk/efo/EFO_0007522 node UBERON_0000981 femur null http://purl.obolibrary.org/obo/UBERON_0000981 node EFO_0006418 HCC0060 null http://www.ebi.ac.uk/efo/EFO_0006418 node EFO_0000118 CS57785 null http://www.ebi.ac.uk/efo/EFO_0000118 node MONDO_0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant null http://purl.obolibrary.org/obo/MONDO_0100219 node EFO_0003013 Mus musculus subspecies null http://www.ebi.ac.uk/efo/EFO_0003013 node EFO_0010539 taurodeoxycholate measurement null http://www.ebi.ac.uk/efo/EFO_0010539 node MONDO_0029131 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development null http://purl.obolibrary.org/obo/MONDO_0029131 node Orphanet_98664 Genetic macular dystrophy null http://www.orpha.net/ORDO/Orphanet_98664 node EFO_0005229 reading null http://www.ebi.ac.uk/efo/EFO_0005229 node Orphanet_2668 Nephropathy-deafness-hyperparathyroidism syndrome null http://www.orpha.net/ORDO/Orphanet_2668 node Orphanet_98958 Honey-droplet corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98958 node Orphanet_280598 Hereditary sensorimotor neuropathy with hyperelastic skin null http://www.orpha.net/ORDO/Orphanet_280598 node EFO_0010333 temporal horn of lateral ventricle volume measurement null http://www.ebi.ac.uk/efo/EFO_0010333 node EFO_0007610 RWPE2 null http://www.ebi.ac.uk/efo/EFO_0007610 node MONDO_0017037 secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease null http://purl.obolibrary.org/obo/MONDO_0017037 node MONDO_0032901 Catifa syndrome null http://purl.obolibrary.org/obo/MONDO_0032901 node Orphanet_2889 Pili torti null http://www.orpha.net/ORDO/Orphanet_2889 node UBERON_0001817 lacrimal gland null http://purl.obolibrary.org/obo/UBERON_0001817 node UBERON_0007213 mesenchyme derived from head neural crest null http://purl.obolibrary.org/obo/UBERON_0007213 node CL_0002457 epidermal Langerhans cell null http://purl.obolibrary.org/obo/CL_0002457 node EFO_0004040 mouse embryonic fibroblast cell null http://www.ebi.ac.uk/efo/EFO_0004040 node EFO_0010627 pro‐adrenomedullin measurement null http://www.ebi.ac.uk/efo/EFO_0010627 node GO_0006810 transport null http://purl.obolibrary.org/obo/GO_0006810 node EFO_0007831 single cell specimen Axiom to be added - single cell specimen is_a (cell specimen and (has_part exactly 1 cell)) http://www.ebi.ac.uk/efo/EFO_0007831 node EFO_0006904 response to efavirenz null http://www.ebi.ac.uk/efo/EFO_0006904 node Orphanet_85338 X-linked intellectual disability - ataxia - apraxia null http://www.orpha.net/ORDO/Orphanet_85338 node EFO_1000495 Primary Pulmonary Diffuse Large B-Cell Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000495 node MONDO_0000608 familial juvenile hyperuricemic nephropathy null http://purl.obolibrary.org/obo/MONDO_0000608 node MONDO_0001557 olecranon bursitis null http://purl.obolibrary.org/obo/MONDO_0001557 node GO_0044267 cellular protein metabolic process null http://purl.obolibrary.org/obo/GO_0044267 node Orphanet_868 Triose phosphate-isomerase deficiency null http://www.orpha.net/ORDO/Orphanet_868 node Orphanet_54260 Left ventricular noncompaction null http://www.orpha.net/ORDO/Orphanet_54260 node HP_0001197 Abnormality of prenatal development or birth Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. http://purl.obolibrary.org/obo/HP_0001197 node MONDO_0004685 Waldeyer's ring cancer null http://purl.obolibrary.org/obo/MONDO_0004685 node Orphanet_1956 Erythromelalgia null http://www.orpha.net/ORDO/Orphanet_1956 node UBERON_0001905 pineal body null http://purl.obolibrary.org/obo/UBERON_0001905 node Orphanet_199282 Harlequin syndrome null http://www.orpha.net/ORDO/Orphanet_199282 node EFO_0008460 colorectal health null http://www.ebi.ac.uk/efo/EFO_0008460 node MONDO_0033546 neurodegeneration, infantile-onset, biotin-responsive null http://purl.obolibrary.org/obo/MONDO_0033546 node Orphanet_330032 Hemoglobin Lepore - beta-thalassemia null http://www.orpha.net/ORDO/Orphanet_330032 node NCBITaxon_272623 Lactococcus lactis subsp. lactis Il1403 null http://purl.obolibrary.org/obo/NCBITaxon_272623 node EFO_0002179 G401 null http://www.ebi.ac.uk/efo/EFO_0002179 node NCBITaxon_51859 Corallus null http://purl.obolibrary.org/obo/NCBITaxon_51859 node EFO_1000602 Transitional Meningioma null http://www.ebi.ac.uk/efo/EFO_1000602 node EFO_0007024 yeast media null http://www.ebi.ac.uk/efo/EFO_0007024 node CHEBI_23527 cytochalasin B null http://purl.obolibrary.org/obo/CHEBI_23527 node CHEBI_85749 triacylglycerol 56:7 null http://purl.obolibrary.org/obo/CHEBI_85749 node MONDO_0015913 rare thrombotic disease of hematologic origin null http://purl.obolibrary.org/obo/MONDO_0015913 node PO_0009013 portion of meristem tissue A formative plant tissue usually made up of small cells capable of dividing indefinitely and giving rise to similar cells or to cells that differentiate to produce the definitive tissues and organs. http://purl.obolibrary.org/obo/PO_0009013 node EFO_0007207 chromoblastomycosis Editor note: check cutaneous vs subcutaneous http://www.ebi.ac.uk/efo/EFO_0007207 node EFO_0006997 response to cold medicine null http://www.ebi.ac.uk/efo/EFO_0006997 node EFO_0003592 obsolete_middle lateral line neuromast null http://www.ebi.ac.uk/efo/EFO_0003592 node EFO_0002665 monocyte-derived intermediate cell null http://www.ebi.ac.uk/efo/EFO_0002665 node EFO_0003712 obsolete_liver (Bos taurus) null http://www.ebi.ac.uk/efo/EFO_0003712 node UBERON_0011146 silk gland null http://purl.obolibrary.org/obo/UBERON_0011146 node Orphanet_324 Fabry disease null http://www.orpha.net/ORDO/Orphanet_324 node Orphanet_101028 Transaldolase deficiency null http://www.orpha.net/ORDO/Orphanet_101028 node Orphanet_363659 20q11.2 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_363659 node EFO_1000503 Rectal Traditional Serrated Adenoma null http://www.ebi.ac.uk/efo/EFO_1000503 node MONDO_0043237 glossodynia null http://purl.obolibrary.org/obo/MONDO_0043237 node EFO_0009282 sodium measurement null http://www.ebi.ac.uk/efo/EFO_0009282 node NCBITaxon_7245 Drosophila yakuba null http://purl.obolibrary.org/obo/NCBITaxon_7245 node NCBITaxon_228578 Youcai mosaic virus null http://purl.obolibrary.org/obo/NCBITaxon_228578 node CL_0002001 CD34-positive, CD38-positive granulocyte monocyte progenitor Markers are for human cells. According to different research groups, CD45RA is present or absent on this cell population. http://purl.obolibrary.org/obo/CL_0002001 node CHEBI_64139 (2R,3S)-EHNA hydrochloride null http://purl.obolibrary.org/obo/CHEBI_64139 node EFO_1001758 ageusia null http://www.ebi.ac.uk/efo/EFO_1001758 node Orphanet_3204 Stormorken-Sjaastad-Langslet syndrome null http://www.orpha.net/ORDO/Orphanet_3204 node EFO_0003294 listeriolysin null http://www.ebi.ac.uk/efo/EFO_0003294 node Orphanet_294925 Amelia null http://www.orpha.net/ORDO/Orphanet_294925 node EFO_0003680 obsolete_axial hypoblast null http://www.ebi.ac.uk/efo/EFO_0003680 node CHEBI_29699 tunicamycin null http://purl.obolibrary.org/obo/CHEBI_29699 node EFO_1000110 Benign Conjunctival Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000110 node EFO_0003493 obsolete_lateral line ganglion null http://www.ebi.ac.uk/efo/EFO_0003493 node Orphanet_50812 Zellweger-like syndrome without peroxisomal anomalies null http://www.orpha.net/ORDO/Orphanet_50812 node CHEBI_64227 ciglitazone null http://purl.obolibrary.org/obo/CHEBI_64227 node Orphanet_284804 Ocular albinism null http://www.orpha.net/ORDO/Orphanet_284804 node Orphanet_281222 Autosomal ichthyosis syndrome with prominent hair abnormalities null http://www.orpha.net/ORDO/Orphanet_281222 node EFO_0000668 preeclampsia null http://www.ebi.ac.uk/efo/EFO_0000668 node HP_0002928 Decreased activity of the pyruvate dehydrogenase complex null http://purl.obolibrary.org/obo/HP_0002928 node GO_0018130 heterocycle biosynthetic process null http://purl.obolibrary.org/obo/GO_0018130 node EFO_0003928 necrotizing enterocolitis null http://www.ebi.ac.uk/efo/EFO_0003928 node EFO_1000238 Endometrial Serous Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000238 node UBERON_0002250 popliteal artery null http://purl.obolibrary.org/obo/UBERON_0002250 node NCBITaxon_484 Neisseria flavescens null http://purl.obolibrary.org/obo/NCBITaxon_484 node UBERON_0001323 tibial nerve null http://purl.obolibrary.org/obo/UBERON_0001323 node MONDO_0018634 hereditary amyloidosis null http://purl.obolibrary.org/obo/MONDO_0018634 node NCBITaxon_47767 Agrotis segetum null http://purl.obolibrary.org/obo/NCBITaxon_47767 node Orphanet_104007 Congenital enteropathy involving intestinal mucosa development null http://www.orpha.net/ORDO/Orphanet_104007 node Orphanet_247765 X-linked cerebellar ataxia null http://www.orpha.net/ORDO/Orphanet_247765 node Orphanet_1177 Early-onset cerebellar ataxia with retained tendon reflexes null http://www.orpha.net/ORDO/Orphanet_1177 node CHEBI_47780 clomipramine null http://purl.obolibrary.org/obo/CHEBI_47780 node EFO_0005386 INA-6 null http://www.ebi.ac.uk/efo/EFO_0005386 node Orphanet_183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder null http://www.orpha.net/ORDO/Orphanet_183634 node HP_0002829 Arthralgia null http://purl.obolibrary.org/obo/HP_0002829 node NCBITaxon_170187 Streptococcus pneumoniae TIGR4 null http://purl.obolibrary.org/obo/NCBITaxon_170187 node Orphanet_147 Carbamoyl-phosphate synthase deficiency null http://www.orpha.net/ORDO/Orphanet_147 node EFO_0006381 COLO 857 null http://www.ebi.ac.uk/efo/EFO_0006381 node EFO_1000326 Lobular Breast Carcinoma In Situ null http://www.ebi.ac.uk/efo/EFO_1000326 node EFO_0009981 PLAC-seq null http://www.ebi.ac.uk/efo/EFO_0009981 node FMA_6670 renal branch of vagus nerve null http://purl.obolibrary.org/obo/FMA_6670 node Orphanet_85191 Singleton-Merten dysplasia null http://www.orpha.net/ORDO/Orphanet_85191 node CL_2000058 calvarial osteoblast http://www.sciencellonline.com/site/productInformation.php?keyword=4600 http://purl.obolibrary.org/obo/CL_2000058 node EFO_0005287 reticulum cell sarcoma Editor note: check this http://www.ebi.ac.uk/efo/EFO_0005287 node EFO_0010417 triacylglycerol 52:5 measurement null http://www.ebi.ac.uk/efo/EFO_0010417 node CHEBI_19065 1-methylinosine null http://purl.obolibrary.org/obo/CHEBI_19065 node Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC null http://www.orpha.net/ORDO/Orphanet_79282 node EFO_0006282 KM12 null http://www.ebi.ac.uk/efo/EFO_0006282 node Orphanet_52429 Branchio-otic syndrome null http://www.orpha.net/ORDO/Orphanet_52429 node MONDO_0012737 long QT syndrome 10 null http://purl.obolibrary.org/obo/MONDO_0012737 node GO_0050865 regulation of cell activation null http://purl.obolibrary.org/obo/GO_0050865 node CHEBI_24937 jasmonic acids null http://purl.obolibrary.org/obo/CHEBI_24937 node EFO_0007939 respiratory symptom measurement null http://www.ebi.ac.uk/efo/EFO_0007939 node CHEBI_18208 benzylpenicillin null http://purl.obolibrary.org/obo/CHEBI_18208 node Orphanet_97242 Congenital muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_97242 node Orphanet_254343 Autosomal recessive spastic ataxia - optic atrophy - dysarthria null http://www.orpha.net/ORDO/Orphanet_254343 node EFO_0010024 AGO-PAR-CLIP null http://www.ebi.ac.uk/efo/EFO_0010024 node EFO_0008250 NKG2-D type II integral membrane protein measurement null http://www.ebi.ac.uk/efo/EFO_0008250 node HP_0011015 Abnormal blood glucose concentration null http://purl.obolibrary.org/obo/HP_0011015 node NCBITaxon_79015 Rana chensinensis null http://purl.obolibrary.org/obo/NCBITaxon_79015 node Orphanet_1003 Scalp defects - postaxial polydactyly null http://www.orpha.net/ORDO/Orphanet_1003 node CHEBI_76616 3-hydroxylaurate null http://purl.obolibrary.org/obo/CHEBI_76616 node MONDO_0045028 radiation or chemically induced disorder null http://purl.obolibrary.org/obo/MONDO_0045028 node EFO_0008063 calcium/calmodulin-dependent protein kinase type 1D measurement null http://www.ebi.ac.uk/efo/EFO_0008063 node Orphanet_86823 Lissencephaly with cerebellar hypoplasia null http://www.orpha.net/ORDO/Orphanet_86823 node Orphanet_79370 Syndromic nail anomaly null http://www.orpha.net/ORDO/Orphanet_79370 node CHEBI_73024 O-acetylcarnitine null http://purl.obolibrary.org/obo/CHEBI_73024 node MONDO_0012825 extraskeletal myxoid chondrosarcoma null http://purl.obolibrary.org/obo/MONDO_0012825 node Orphanet_97944 Gastroduodenal malformation null http://www.orpha.net/ORDO/Orphanet_97944 node Orphanet_169349 Immuno-osseous dysplasia null http://www.orpha.net/ORDO/Orphanet_169349 node EFO_0008954 STRT-seq-2i null http://www.ebi.ac.uk/efo/EFO_0008954 node GO_0005764 lysosome null http://purl.obolibrary.org/obo/GO_0005764 node UO_0000169 part per million null http://purl.obolibrary.org/obo/UO_0000169 node Orphanet_99688 Dermotrichic syndrome Editor note: See PMID:1456297 http://www.orpha.net/ORDO/Orphanet_99688 node MONDO_0003193 bile duct adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0003193 node GO_0007088 regulation of mitotic nuclear division null http://purl.obolibrary.org/obo/GO_0007088 node Orphanet_3291 Teebi-Shaltout syndrome null http://www.orpha.net/ORDO/Orphanet_3291 node EFO_0002461 skeletal system disease null http://www.ebi.ac.uk/efo/EFO_0002461 node Orphanet_559 Marinesco-Sjögren syndrome null http://www.orpha.net/ORDO/Orphanet_559 node EFO_0008767 hMeDIP-seq null http://www.ebi.ac.uk/efo/EFO_0008767 node EFO_1000660 acanthosis nigricans null http://www.ebi.ac.uk/efo/EFO_1000660 node GO_0043590 bacterial nucleoid null http://purl.obolibrary.org/obo/GO_0043590 node NCBITaxon_5067 Aspergillus parasiticus null http://purl.obolibrary.org/obo/NCBITaxon_5067 node EFO_0008151 hepatitis A virus cellular receptor 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008151 node Orphanet_3456 Wildervanck syndrome null http://www.orpha.net/ORDO/Orphanet_3456 node MONDO_0001409 esophagitis (disease) null http://purl.obolibrary.org/obo/MONDO_0001409 node MONDO_0001336 familial hyperlipidemia Editor note: consider merging http://purl.obolibrary.org/obo/MONDO_0001336 node Orphanet_166 Charcot-Marie-Tooth disease null http://www.orpha.net/ORDO/Orphanet_166 node EFO_0001417 obsolete_sciatic nerve null http://www.ebi.ac.uk/efo/EFO_0001417 node MONDO_0008771 amelogenesis imperfecta type 1G null http://purl.obolibrary.org/obo/MONDO_0008771 node EFO_0008855 PBAT null http://www.ebi.ac.uk/efo/EFO_0008855 node EFO_0000857 obsolete_pituitary null http://www.ebi.ac.uk/efo/EFO_0000857 node MONDO_0001149 microcephaly (disease) null http://purl.obolibrary.org/obo/MONDO_0001149 node CL_0002318 periperhal blood mesothelial cell null http://purl.obolibrary.org/obo/CL_0002318 node EFO_0002362 SW1463 null http://www.ebi.ac.uk/efo/EFO_0002362 node EFO_0009007 Adrenal Hyperandrogenism null http://www.ebi.ac.uk/efo/EFO_0009007 node GO_0046878 positive regulation of saliva secretion null http://purl.obolibrary.org/obo/GO_0046878 node Orphanet_399994 Rare male infertility due to adrenal disorder of genetic origin null http://www.orpha.net/ORDO/Orphanet_399994 node Orphanet_69125 Anonychia with flexural pigmentation null http://www.orpha.net/ORDO/Orphanet_69125 node Orphanet_369942 CADDS null http://www.orpha.net/ORDO/Orphanet_369942 node Orphanet_2617 Bird headed-dwarfism, Montreal type null http://www.orpha.net/ORDO/Orphanet_2617 node Orphanet_79314 L-2-hydroxyglutaric aciduria null http://www.orpha.net/ORDO/Orphanet_79314 node EFO_0002150 Caki2 null http://www.ebi.ac.uk/efo/EFO_0002150 node Orphanet_3357 Autosomal dominant trichoodontoonychodysplasia-syndactyly null http://www.orpha.net/ORDO/Orphanet_3357 node HP_0025382 Hypodipsia null http://purl.obolibrary.org/obo/HP_0025382 node EFO_1000993 intracranial hypotension null http://www.ebi.ac.uk/efo/EFO_1000993 node MONDO_0002341 granulomatous angiitis null http://purl.obolibrary.org/obo/MONDO_0002341 node EFO_1000908 duodenal obstruction null http://www.ebi.ac.uk/efo/EFO_1000908 node EFO_0000464 emphysema null http://www.ebi.ac.uk/efo/EFO_0000464 node MONDO_0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies null http://purl.obolibrary.org/obo/MONDO_0033548 node UBERON_0001873 caudate nucleus null http://purl.obolibrary.org/obo/UBERON_0001873 node EFO_0009892 facial attractiveness measurement null http://www.ebi.ac.uk/efo/EFO_0009892 node EFO_1001145 Raynaud disease null http://www.ebi.ac.uk/efo/EFO_1001145 node EFO_0008321 WNT1-inducible-signaling pathway protein 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008321 node CL_0002406 immature Vgamma2-positive thymocyte NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. http://purl.obolibrary.org/obo/CL_0002406 node MONDO_0021673 post-bacterial disorder null http://purl.obolibrary.org/obo/MONDO_0021673 node EFO_0000277 obsolete_cardiac atrium null http://www.ebi.ac.uk/efo/EFO_0000277 node EFO_0005575 obsolete_penis carcinoma null http://www.ebi.ac.uk/efo/EFO_0005575 node EFO_0002830 MKN1 null http://www.ebi.ac.uk/efo/EFO_0002830 node EFO_0000758 obsolete_limb-girdle muscular dystrophy null http://www.ebi.ac.uk/efo/EFO_0000758 node MONDO_0044990 hand disease null http://purl.obolibrary.org/obo/MONDO_0044990 node NCBITaxon_4890 Ascomycota null http://purl.obolibrary.org/obo/NCBITaxon_4890 node CHEBI_16610 spermidine null http://purl.obolibrary.org/obo/CHEBI_16610 node Orphanet_255132 Adult-onset autosomal recessive sideroblastic anemia null http://www.orpha.net/ORDO/Orphanet_255132 node EFO_0009503 caustic injury null http://www.ebi.ac.uk/efo/EFO_0009503 node CHEBI_4836 amphiprotic solvent role null http://purl.obolibrary.org/obo/CHEBI_4836 node Orphanet_817 Peeling skin syndrome null http://www.orpha.net/ORDO/Orphanet_817 node EFO_1001847 spinal subdural hematoma null http://www.ebi.ac.uk/efo/EFO_1001847 node Orphanet_79215 Oligosaccharidosis null http://www.orpha.net/ORDO/Orphanet_79215 node HP_0010743 Short metatarsal This is a subjective assessment and one generally compares the position of the MTP joint to that of the contralateral digit or the putatively shortened ray in proportion to the other rays. The affected digits should be specified. http://purl.obolibrary.org/obo/HP_0010743 node EFO_0009316 protein c deficiency null http://www.ebi.ac.uk/efo/EFO_0009316 node EFO_0003898 ankylosing spondylitis null http://www.ebi.ac.uk/efo/EFO_0003898 node Orphanet_230839 Ehlers-Danlos syndrome due to tenascin-X deficiency null http://www.orpha.net/ORDO/Orphanet_230839 node EFO_0002051 D4 glioblastoma derived primary cell line null http://www.ebi.ac.uk/efo/EFO_0002051 node CL_0000390 blood cell (sensu Nematoda and Protostomia) null http://purl.obolibrary.org/obo/CL_0000390 node EFO_1001233 variant Creutzfeldt-Jakob disease null http://www.ebi.ac.uk/efo/EFO_1001233 node EFO_0000365 colorectal adenocarcinoma Editor note: we follow NCIT in treating colorectal and large intestine as equivalent http://www.ebi.ac.uk/efo/EFO_0000365 node EFO_0005663 urinary uromodulin measurement null http://www.ebi.ac.uk/efo/EFO_0005663 node EFO_0004736 aspartate aminotransferase measurement null http://www.ebi.ac.uk/efo/EFO_0004736 node Orphanet_319328 Inherited renal cancer-predisposing syndrome null http://www.orpha.net/ORDO/Orphanet_319328 node EFO_1001046 obsolete_Mobius syndrome null http://www.ebi.ac.uk/efo/EFO_1001046 node Orphanet_369913 Combined oxidative phosphorylation defect type 17 null http://www.orpha.net/ORDO/Orphanet_369913 node EFO_0005476 JVM-2 null http://www.ebi.ac.uk/efo/EFO_0005476 node EFO_1001454 amnesia null http://www.ebi.ac.uk/efo/EFO_1001454 node EFO_1001935 adult B acute lymphoblastic leukemia null http://www.ebi.ac.uk/efo/EFO_1001935 node EFO_0009404 hippocampal fissure volume null http://www.ebi.ac.uk/efo/EFO_0009404 node EFO_0005884 obsolete_right atrium null http://www.ebi.ac.uk/efo/EFO_0005884 node HP_0002239 Gastrointestinal hemorrhage null http://purl.obolibrary.org/obo/HP_0002239 node EFO_0004957 Clark level I null http://www.ebi.ac.uk/efo/EFO_0004957 node UBERON_0002358 peritoneum null http://purl.obolibrary.org/obo/UBERON_0002358 node CLO_0014334 GM17235 null http://purl.obolibrary.org/obo/CLO_0014334 node NCBITaxon_1390 Bacillus amyloliquefaciens null http://purl.obolibrary.org/obo/NCBITaxon_1390 node HP_0002637 Cerebral ischemia null http://purl.obolibrary.org/obo/HP_0002637 node EFO_0003296 interleukin-4 (Homo sapiens) null http://www.ebi.ac.uk/efo/EFO_0003296 node Orphanet_1891 Intellectual disability - spasticity - ectrodactyly null http://www.orpha.net/ORDO/Orphanet_1891 node MONDO_0015816 indolent primary cutaneous T-cell lymphoma null http://purl.obolibrary.org/obo/MONDO_0015816 node EFO_1001337 Hand-Arm Vibration Syndrome null http://www.ebi.ac.uk/efo/EFO_1001337 node MONDO_0017986 disorder of plasmalogens biosynthesis null http://purl.obolibrary.org/obo/MONDO_0017986 node HP_0011565 Common atrium null http://purl.obolibrary.org/obo/HP_0011565 node Orphanet_295223 Madelung deformity, bilateral null http://www.orpha.net/ORDO/Orphanet_295223 node EFO_0010592 tumor necrosis factor ligand superfamily member 8 measurement null http://www.ebi.ac.uk/efo/EFO_0010592 node EFO_0005767 rheumatoid factor measurement null http://www.ebi.ac.uk/efo/EFO_0005767 node EFO_0004330 coffee consumption null http://www.ebi.ac.uk/efo/EFO_0004330 node EFO_0003403 obsolete_ventral midline glia null http://www.ebi.ac.uk/efo/EFO_0003403 node NCBITaxon_4922 Komagataella pastoris null http://purl.obolibrary.org/obo/NCBITaxon_4922 node EFO_0003039 EAhy 926 cell null http://www.ebi.ac.uk/efo/EFO_0003039 node MONDO_0037745 fibromyxoid tumor null http://purl.obolibrary.org/obo/MONDO_0037745 node NCBITaxon_6183 Schistosoma mansoni null http://purl.obolibrary.org/obo/NCBITaxon_6183 node EFO_0007774 thrombomodulin measurement null http://www.ebi.ac.uk/efo/EFO_0007774 node GO_0009116 nucleoside metabolic process null http://purl.obolibrary.org/obo/GO_0009116 node EFO_0006776 WSU-FSCCL null http://www.ebi.ac.uk/efo/EFO_0006776 node MONDO_0045040 locational disease characteristic null http://purl.obolibrary.org/obo/MONDO_0045040 node Orphanet_295000 Constriction rings syndrome null http://www.orpha.net/ORDO/Orphanet_295000 node MONDO_0021107 narcolepsy null http://purl.obolibrary.org/obo/MONDO_0021107 node EFO_0006589 Hs 746T null http://www.ebi.ac.uk/efo/EFO_0006589 node EFO_0004231 obsolete_brachial artery null http://www.ebi.ac.uk/efo/EFO_0004231 node EFO_0003304 anti-CD28 null http://www.ebi.ac.uk/efo/EFO_0003304 node MONDO_0002746 fallopian tube adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0002746 node EFO_0007862 reproductive behaviour measurement null http://www.ebi.ac.uk/efo/EFO_0007862 node HP_0009601 Aplasia/Hypoplasia of the thumb null http://purl.obolibrary.org/obo/HP_0009601 node NCBITaxon_5702 Trypanosoma brucei brucei null http://purl.obolibrary.org/obo/NCBITaxon_5702 node EFO_0010600 angiopoietin-1 receptor measurement null http://www.ebi.ac.uk/efo/EFO_0010600 node EFO_0009983 MC-4C null http://www.ebi.ac.uk/efo/EFO_0009983 node EFO_0006677 NCI-H2198 null http://www.ebi.ac.uk/efo/EFO_0006677 node CLO_0016502 GM17810 null http://purl.obolibrary.org/obo/CLO_0016502 node MONDO_0000421 inborn serine deficiency null http://purl.obolibrary.org/obo/MONDO_0000421 node NCBITaxon_242507 Magnaporthe oryzae 70-15 null http://purl.obolibrary.org/obo/NCBITaxon_242507 node GO_0033142 progesterone receptor binding null http://purl.obolibrary.org/obo/GO_0033142 node HP_0000680 Delayed eruption of primary teeth null http://purl.obolibrary.org/obo/HP_0000680 node Orphanet_79284 Methylmalonic acidemia with homocystinuria type cblF Editor note: TODO - relevant annotation from GO http://www.orpha.net/ORDO/Orphanet_79284 node EFO_0003397 hypopharyngeal sense organ null http://www.ebi.ac.uk/efo/EFO_0003397 node Orphanet_73272 Growth delay due to insulin-like growth factor type 1 deficiency null http://www.orpha.net/ORDO/Orphanet_73272 node Orphanet_99853 Ovarioleukodystrophy null http://www.orpha.net/ORDO/Orphanet_99853 node EFO_0007325 infectious ectromelia null http://www.ebi.ac.uk/efo/EFO_0007325 node EFO_0009087 non-typhoidal Salmonella bacteremia null http://www.ebi.ac.uk/efo/EFO_0009087 node EFO_0009568 tricuspid valve disease null http://www.ebi.ac.uk/efo/EFO_0009568 node EFO_0007138 akinetic mutism null http://www.ebi.ac.uk/efo/EFO_0007138 node UBERON_6001778 wing disc null http://purl.obolibrary.org/obo/UBERON_6001778 node EFO_0009495 C1 100080003 null http://www.ebi.ac.uk/efo/EFO_0009495 node CLO_0031263 GM14452 null http://purl.obolibrary.org/obo/CLO_0031263 node HP_0003487 Babinski sign A positive Babinski sign can indicate damage to the corticospinal tract. http://purl.obolibrary.org/obo/HP_0003487 node EFO_0003485 obsolete_trunk mesenchyme null http://www.ebi.ac.uk/efo/EFO_0003485 node Orphanet_330029 Hypotrichosis-deafness syndrome null http://www.orpha.net/ORDO/Orphanet_330029 node EFO_0003298 epidermal growth factor null http://www.ebi.ac.uk/efo/EFO_0003298 node NCBITaxon_74109 Photobacterium profundum null http://purl.obolibrary.org/obo/NCBITaxon_74109 node EFO_0009656 neoplastic sample Note that this term is not meant to replace a histological or anatomical quality. While the neoplastic specification was desirable in the context of one particular use case, any further specification of children of ‘reference sample’ or ‘abnormal sample’ (e.g. benign, malignant, grade, anatomical attribution) should not become part of this subtree. http://www.ebi.ac.uk/efo/EFO_0009656 node Orphanet_207052 Qualitative or quantitative defects of sarcoglycan null http://www.orpha.net/ORDO/Orphanet_207052 node NCBITaxon_15819 Saccharum sp. null http://purl.obolibrary.org/obo/NCBITaxon_15819 node EFO_0002779 BJ null http://www.ebi.ac.uk/efo/EFO_0002779 node EFO_0007226 coxsackievirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007226 node HP_0004474 Persistent open anterior fontanelle null http://purl.obolibrary.org/obo/HP_0004474 node HP_0005521 Disseminated intravascular coagulation DIC is a complex syndrome in which there is pathological generation of thrombin and diffuse intravascular clot formation. DIC may occur as acute decompensated or chronic compensated form. In acute decompensated DIC, there is a sudden massive exposure of tissue factor over a brief time period; Intravascular coagulation can also compromise the blood supply to organs and, in conjunction with hemodynamic and metabolic derangements, may contribute to the failure of multiple organs. At the same time, the use and subsequent depletion of platelets and coagulation proteins resulting from the ongoing coagulation may induce severe bleeding. Chronic DIC, also known as compensated DIC, results from a persistent weak or intermittent activating stimulus. Under such conditions, destruction and production of coagulation factors and platelets are balanced. http://purl.obolibrary.org/obo/HP_0005521 node Orphanet_2680 Hypomyelination neuropathy - arthrogryposis null http://www.orpha.net/ORDO/Orphanet_2680 node EFO_0008012 Abelson tyrosine-protein kinase 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008012 node CHEBI_48236 trichlorofluoromethane null http://purl.obolibrary.org/obo/CHEBI_48236 node HP_0001386 Joint swelling null http://purl.obolibrary.org/obo/HP_0001386 node MONDO_0004874 ganglion or cyst of synovium/tendon/bursa null http://purl.obolibrary.org/obo/MONDO_0004874 node EFO_0009396 hippocampal CA4 volume null http://www.ebi.ac.uk/efo/EFO_0009396 node UBERON_0000451 prefrontal cortex null http://purl.obolibrary.org/obo/UBERON_0000451 node NCBITaxon_300275 Lachancea null http://purl.obolibrary.org/obo/NCBITaxon_300275 node Orphanet_90030 Hemolytic anemia due to glutathione reductase deficiency null http://www.orpha.net/ORDO/Orphanet_90030 node Orphanet_268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease null http://www.orpha.net/ORDO/Orphanet_268337 node Orphanet_371054 X-linked congenital disorder of glycosylation with intellectual disability as a major feature null http://www.orpha.net/ORDO/Orphanet_371054 node Orphanet_3240 Central nervous system calcification - deafness - tubular acidosis - anemia null http://www.orpha.net/ORDO/Orphanet_3240 node UBERON_0003679 mouth floor null http://purl.obolibrary.org/obo/UBERON_0003679 node EFO_1000291 Hepatic Granuloma Editor note: check neoplasm classification http://www.ebi.ac.uk/efo/EFO_1000291 node MONDO_0003142 intracranial primitive neuroectodermal tumor null http://purl.obolibrary.org/obo/MONDO_0003142 node EFO_0005740 iPSC derived cell line null http://www.ebi.ac.uk/efo/EFO_0005740 node EFO_0004813 alpha globulin measurement is about MSH:D000510 http://www.ebi.ac.uk/efo/EFO_0004813 node Orphanet_508 Leprechaunism null http://www.orpha.net/ORDO/Orphanet_508 node EFO_0008716 obsolete_DNase-Seq null http://www.ebi.ac.uk/efo/EFO_0008716 node EFO_0003794 interleukin-1 beta (Homo sapiens) null http://www.ebi.ac.uk/efo/EFO_0003794 node EFO_0003589 obsolete_floor plate rhombomere 7 null http://www.ebi.ac.uk/efo/EFO_0003589 node EFO_0001915 obsolete_choroid plexus null http://www.ebi.ac.uk/efo/EFO_0001915 node HP_0002474 Expressive language delay null http://purl.obolibrary.org/obo/HP_0002474 node EFO_0003150 obsolete_African American null http://www.ebi.ac.uk/efo/EFO_0003150 node CHEBI_64042 3-aminobenzamide null http://purl.obolibrary.org/obo/CHEBI_64042 node EFO_0002704 tiling array null http://www.ebi.ac.uk/efo/EFO_0002704 node MONDO_0015194 sideroblastic anemia null http://purl.obolibrary.org/obo/MONDO_0015194 node EFO_0008100 contactin-2 measurement null http://www.ebi.ac.uk/efo/EFO_0008100 node EFO_0002152 Calu6 null http://www.ebi.ac.uk/efo/EFO_0002152 node EFO_0001225 PC12 null http://www.ebi.ac.uk/efo/EFO_0001225 node EFO_0000056 CS57663 null http://www.ebi.ac.uk/efo/EFO_0000056 node EFO_0000641 papillary thyroid carcinoma null http://www.ebi.ac.uk/efo/EFO_0000641 node HP_0002901 Hypocalcemia null http://purl.obolibrary.org/obo/HP_0002901 node Orphanet_1570 Symbrachydactyly of hands and feet null http://www.orpha.net/ORDO/Orphanet_1570 node EFO_0001048 bulb null http://www.ebi.ac.uk/efo/EFO_0001048 node EFO_0008804 Methyl-seq null http://www.ebi.ac.uk/efo/EFO_0008804 node EFO_0008323 hypocretin deficiency null http://www.ebi.ac.uk/efo/EFO_0008323 node CHEBI_84647 O-[(9Z)-tetradecenoyl]-L-carnitine null http://purl.obolibrary.org/obo/CHEBI_84647 node EFO_0004781 DSM-IV-based non-social scale null http://www.ebi.ac.uk/efo/EFO_0004781 node EFO_0004901 obsolete_Northern and Western European null http://www.ebi.ac.uk/efo/EFO_0004901 node CHEBI_35696 cobalt dichloride null http://purl.obolibrary.org/obo/CHEBI_35696 node CHEBI_17151 xylitol null http://purl.obolibrary.org/obo/CHEBI_17151 node MONDO_0002025 psychiatric disorder null http://purl.obolibrary.org/obo/MONDO_0002025 node EFO_0010271 bacterial pathogen genotype measurement null http://www.ebi.ac.uk/efo/EFO_0010271 node CHEBI_89963 N-Butyrylglycine null http://purl.obolibrary.org/obo/CHEBI_89963 node EFO_0002311 OV90 null http://www.ebi.ac.uk/efo/EFO_0002311 node EFO_0008617 Medullary Cystic Kidney Disease Type I null http://www.ebi.ac.uk/efo/EFO_0008617 node CHEBI_27389 3-aminoisobutyric acid null http://purl.obolibrary.org/obo/CHEBI_27389 node EFO_0004034 discretized differential expression null http://www.ebi.ac.uk/efo/EFO_0004034 node MONDO_0015301 primary cutaneous amyloidosis null http://purl.obolibrary.org/obo/MONDO_0015301 node CLO_0013094 GM17282 null http://purl.obolibrary.org/obo/CLO_0013094 node EFO_0002240 obsolete_MOLT4 null http://www.ebi.ac.uk/efo/EFO_0002240 node EFO_0001313 pharyngula prim-25 null http://www.ebi.ac.uk/efo/EFO_0001313 node UBERON_0005725 olfactory system null http://purl.obolibrary.org/obo/UBERON_0005725 node Orphanet_50809 Talo-patello-scaphoid osteolysis null http://www.orpha.net/ORDO/Orphanet_50809 node CHEBI_17855 triglyceride null http://purl.obolibrary.org/obo/CHEBI_17855 node EFO_0002053 F9 mouse embryonal carcinoma cell line Mouse cell line http://www.ebi.ac.uk/efo/EFO_0002053 node Orphanet_178506 Brain calcification, Rajab type null http://www.orpha.net/ORDO/Orphanet_178506 node PO_0007082 LP.20 twenty or more leaves whorls visible stage null http://purl.obolibrary.org/obo/PO_0007082 node Orphanet_108967 Non-syndromic intestinal malformation null http://www.orpha.net/ORDO/Orphanet_108967 node EFO_0008411 susceptibility to bacterial meningitis measurement null http://www.ebi.ac.uk/efo/EFO_0008411 node MONDO_0000568 autoimmune disease of central nervous system null http://purl.obolibrary.org/obo/MONDO_0000568 node EFO_1000755 pigmentation disease This class covers pigmentation disorders of the skin, as well as those affecting the eyes http://www.ebi.ac.uk/efo/EFO_1000755 node EFO_0000226 obsolete_adaxial cells null http://www.ebi.ac.uk/efo/EFO_0000226 node CHEBI_30742 ethylene glycol null http://purl.obolibrary.org/obo/CHEBI_30742 node EFO_0000707 squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0000707 node MONDO_0004255 Wolffian adnexal tumor null http://purl.obolibrary.org/obo/MONDO_0004255 node EFO_0003090 obsolete_spinocerebellar ataxia type 7 null http://www.ebi.ac.uk/efo/EFO_0003090 node MONDO_0021364 neoplasm of oropharynx null http://purl.obolibrary.org/obo/MONDO_0021364 node EFO_0000928 obsolete_mesonephros null http://www.ebi.ac.uk/efo/EFO_0000928 node GO_0050896 response to stimulus Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0050896 node MONDO_0001583 diabetic polyneuropathy null http://purl.obolibrary.org/obo/MONDO_0001583 node NCBITaxon_9103 Meleagris gallopavo null http://purl.obolibrary.org/obo/NCBITaxon_9103 node HP_0011913 Lumbar hypertrichosis null http://purl.obolibrary.org/obo/HP_0011913 node CL_0000796 CD8-alpha-beta-positive, alpha-beta intraepithelial T cell null http://purl.obolibrary.org/obo/CL_0000796 node Orphanet_1216 Autosomal dominant congenital benign spinal muscular atrophy null http://www.orpha.net/ORDO/Orphanet_1216 node EFO_0005425 language impairment null http://www.ebi.ac.uk/efo/EFO_0005425 node MONDO_0000879 cutaneous candidiasis null http://purl.obolibrary.org/obo/MONDO_0000879 node Orphanet_199351 Adult-onset dystonia-parkinsonism null http://www.orpha.net/ORDO/Orphanet_199351 node EFO_0006941 grip strength measurement null http://www.ebi.ac.uk/efo/EFO_0006941 node CLO_0014390 GM17254 null http://purl.obolibrary.org/obo/CLO_0014390 node MONDO_0004166 hereditary fallopian tube carcinoma null http://purl.obolibrary.org/obo/MONDO_0004166 node Orphanet_70595 Sensory ataxic neuropathy - dysarthria - ophthalmoparesis null http://www.orpha.net/ORDO/Orphanet_70595 node Orphanet_1437 Ring chromosome 1 null http://www.orpha.net/ORDO/Orphanet_1437 node UBERON_0010285 midbrain basal plate null http://purl.obolibrary.org/obo/UBERON_0010285 node HP_0000997 Axillary freckling null http://purl.obolibrary.org/obo/HP_0000997 node PO_0020048 microspore null http://purl.obolibrary.org/obo/PO_0020048 node Orphanet_85188 Metaphyseal dysplasia, Braun-Tinschert type null http://www.orpha.net/ORDO/Orphanet_85188 node UBERON_0001989 superior cervical ganglion null http://purl.obolibrary.org/obo/UBERON_0001989 node CL_0000903 natural T-regulatory cell null http://purl.obolibrary.org/obo/CL_0000903 node EFO_1002010 TP53 Positive Breast Carcinoma null http://www.ebi.ac.uk/efo/EFO_1002010 node Orphanet_320317 Cleft lip/palate - ectodermal dysplasia null http://www.orpha.net/ORDO/Orphanet_320317 node EFO_0010138 nitrite measurement null http://www.ebi.ac.uk/efo/EFO_0010138 node NCBITaxon_208963 Pseudomonas aeruginosa UCBPP-PA14 null http://purl.obolibrary.org/obo/NCBITaxon_208963 node Orphanet_52183 Premature chromosome condensation with microcephaly and intellectual disability null http://www.orpha.net/ORDO/Orphanet_52183 node EFO_0010619 cathepsin L1 measurement null http://www.ebi.ac.uk/efo/EFO_0010619 node MONDO_0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome null http://purl.obolibrary.org/obo/MONDO_0014953 node EFO_0007791 rheumatoid factor seropositivity measurement null http://www.ebi.ac.uk/efo/EFO_0007791 node EFO_0008580 response to taxane null http://www.ebi.ac.uk/efo/EFO_0008580 node Orphanet_85276 X-linked intellectual disability, Armfield type null http://www.orpha.net/ORDO/Orphanet_85276 node EFO_0007478 scirrhous adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0007478 node CHEBI_63918 artesunate null http://purl.obolibrary.org/obo/CHEBI_63918 node Orphanet_2502 Metaphyseal dysostosis - intellectual disability - conductive deafness null http://www.orpha.net/ORDO/Orphanet_2502 node Orphanet_97239 Reducing body myopathy null http://www.orpha.net/ORDO/Orphanet_97239 node Orphanet_77301 Monosomy 9q22.3 null http://www.orpha.net/ORDO/Orphanet_77301 node Orphanet_2031 Hepatic fibrosis - renal cysts - intellectual disability null http://www.orpha.net/ORDO/Orphanet_2031 node Orphanet_68367 Inborn errors of metabolism null http://www.orpha.net/ORDO/Orphanet_68367 node Orphanet_1408 Hair defect - photosensitivity - intellectual disability null http://www.orpha.net/ORDO/Orphanet_1408 node MONDO_0021258 choroid neoplasm null http://purl.obolibrary.org/obo/MONDO_0021258 node HP_0001939 Abnormality of metabolism/homeostasis null http://purl.obolibrary.org/obo/HP_0001939 node EFO_0002822 D10.G4.1 null http://www.ebi.ac.uk/efo/EFO_0002822 node Orphanet_217566 Chronic respiratory distress with surfactant metabolism deficiency null http://www.orpha.net/ORDO/Orphanet_217566 node EFO_0009259 skin carcinoma null http://www.ebi.ac.uk/efo/EFO_0009259 node Orphanet_75840 Congenital muscular dystrophy, Ullrich type null http://www.orpha.net/ORDO/Orphanet_75840 node EFO_0006538 BFTC-909 null http://www.ebi.ac.uk/efo/EFO_0006538 node Orphanet_329457 Distal arthrogryposis type 5D null http://www.orpha.net/ORDO/Orphanet_329457 node MONDO_0002836 urethra transitional cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0002836 node EFO_0002458 obsolete_nucleus accumbens core null http://www.ebi.ac.uk/efo/EFO_0002458 node CLO_0013875 GM17209 null http://purl.obolibrary.org/obo/CLO_0013875 node CHEBI_44423 hydroxyurea null http://purl.obolibrary.org/obo/CHEBI_44423 node EFO_0002939 medulloblastoma null http://www.ebi.ac.uk/efo/EFO_0002939 node HP_0000138 Ovarian cyst null http://purl.obolibrary.org/obo/HP_0000138 node Orphanet_171848 Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract null http://www.orpha.net/ORDO/Orphanet_171848 node Orphanet_99948 Charcot-Marie-Tooth disease type 4A null http://www.orpha.net/ORDO/Orphanet_99948 node EFO_0009347 Anti-cytomegalovirus IgG measurement null http://www.ebi.ac.uk/efo/EFO_0009347 node EFO_0003650 obsolete_ventricular system null http://www.ebi.ac.uk/efo/EFO_0003650 node EFO_0006626 KYSE-140 null http://www.ebi.ac.uk/efo/EFO_0006626 node CHEBI_4509 diclofenac sodium null http://purl.obolibrary.org/obo/CHEBI_4509 node Orphanet_93561 Familial renal amyloidosis due to lysozyme variant null http://www.orpha.net/ORDO/Orphanet_93561 node EFO_1001390 Peri-Implantitis null http://www.ebi.ac.uk/efo/EFO_1001390 node EFO_0002546 abnormal glucose tolerance null http://www.ebi.ac.uk/efo/EFO_0002546 node EFO_0006449 KARPAS-620 null http://www.ebi.ac.uk/efo/EFO_0006449 node CLO_0013963 GM17156 null http://purl.obolibrary.org/obo/CLO_0013963 node CL_0000897 CD4-positive, alpha-beta memory T cell null http://purl.obolibrary.org/obo/CL_0000897 node EFO_0005030 anti-IgG null http://www.ebi.ac.uk/efo/EFO_0005030 node CHEBI_35280 L-proline betaine null http://purl.obolibrary.org/obo/CHEBI_35280 node EFO_0003871 tongue neoplasm null http://www.ebi.ac.uk/efo/EFO_0003871 node CHEBI_81278 4-(4-Hydroxyphenyl)-2-butanol null http://purl.obolibrary.org/obo/CHEBI_81278 node MONDO_0003523 gastrin-producing neuroendocrine tumor null http://purl.obolibrary.org/obo/MONDO_0003523 node Orphanet_369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome null http://www.orpha.net/ORDO/Orphanet_369939 node Orphanet_69663 Low phospholipid associated cholelithiasis null http://www.orpha.net/ORDO/Orphanet_69663 node Orphanet_140933 Linear atrophoderma of Moulin null http://www.orpha.net/ORDO/Orphanet_140933 node UBERON_2001051 caudal division of the internal carotid artery null http://purl.obolibrary.org/obo/UBERON_2001051 node Orphanet_98557 Syndromic aniridia null http://www.orpha.net/ORDO/Orphanet_98557 node EFO_1001298 Coxa Vara null http://www.ebi.ac.uk/efo/EFO_1001298 node BTO_0002842 cholangioma cell null http://purl.obolibrary.org/obo/BTO_0002842 node Orphanet_93444 Primary bone dysplasia with increased bone density null http://www.orpha.net/ORDO/Orphanet_93444 node CL_0000985 IgG plasma cell null http://purl.obolibrary.org/obo/CL_0000985 node NCBITaxon_1717 Corynebacterium diphtheriae null http://purl.obolibrary.org/obo/NCBITaxon_1717 node HP_0002180 Neurodegeneration null http://purl.obolibrary.org/obo/HP_0002180 node Orphanet_899 Walker-Warburg syndrome null http://www.orpha.net/ORDO/Orphanet_899 node EFO_0009036 Combined oxidative phosphorylation defect type 26 null http://www.ebi.ac.uk/efo/EFO_0009036 node MONDO_0016330 non-familial hypertrophic cardiomyopathy null http://purl.obolibrary.org/obo/MONDO_0016330 node UO_0000025 picogram null http://purl.obolibrary.org/obo/UO_0000025 node MONDO_0044987 face disease null http://purl.obolibrary.org/obo/MONDO_0044987 node Orphanet_308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B null http://www.orpha.net/ORDO/Orphanet_308393 node MONDO_0002132 skull cancer null http://purl.obolibrary.org/obo/MONDO_0002132 node EFO_0008014 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008014 node NCBITaxon_200361 Aegilops tauschii subsp. strangulata null http://purl.obolibrary.org/obo/NCBITaxon_200361 node HP_0000712 Emotional lability null http://purl.obolibrary.org/obo/HP_0000712 node MONDO_0004532 auditory system cancer null http://purl.obolibrary.org/obo/MONDO_0004532 node Orphanet_294951 Congenital joint dislocations null http://www.orpha.net/ORDO/Orphanet_294951 node CHEBI_33232 application null http://purl.obolibrary.org/obo/CHEBI_33232 node MONDO_0044316 thrombocytopenia, anemia, and myelofibrosis null http://purl.obolibrary.org/obo/MONDO_0044316 node UBERON_0009910 posterior lateral plate mesoderm null http://purl.obolibrary.org/obo/UBERON_0009910 node MONDO_0000023 infantile liver failure OMIM series 615438. Plus one non-syndrome. OMIM series covers only syndromes but I left off "syndrome" from the series name (smb). http://purl.obolibrary.org/obo/MONDO_0000023 node MONDO_0014536 thrombocytopenia 5 null http://purl.obolibrary.org/obo/MONDO_0014536 node Orphanet_1987 Femoral agenesis/hypoplasia null http://www.orpha.net/ORDO/Orphanet_1987 node MONDO_0017398 3MC syndrome null http://purl.obolibrary.org/obo/MONDO_0017398 node CL_0000387 hemocyte (sensu Arthropoda) null http://purl.obolibrary.org/obo/CL_0000387 node CL_0000868 lymph node macrophage Marker was observed on rat cells. http://purl.obolibrary.org/obo/CL_0000868 node CHEBI_78075 icosenoate null http://purl.obolibrary.org/obo/CHEBI_78075 node Orphanet_166272 Goldblatt syndrome null http://www.orpha.net/ORDO/Orphanet_166272 node GO_0072758 response to topoisomerase inhibitor null http://purl.obolibrary.org/obo/GO_0072758 node MONDO_0043771 radiodermatitis null http://purl.obolibrary.org/obo/MONDO_0043771 node NCBITaxon_9601 Pongo abelii null http://purl.obolibrary.org/obo/NCBITaxon_9601 node Orphanet_98703 Disease with potential neoplastic degeneration associated with ocular features null http://www.orpha.net/ORDO/Orphanet_98703 node Orphanet_1186 Infantile onset spinocerebellar ataxia Editor notes: DO terms may need to be merged. See: https://github.com/monarch-initiative/mondo-build/issues/5 http://www.orpha.net/ORDO/Orphanet_1186 node EFO_0008102 copine-1 measurement null http://www.ebi.ac.uk/efo/EFO_0008102 node EFO_1000446 Pancreatoblastoma null http://www.ebi.ac.uk/efo/EFO_1000446 node MONDO_0000920 duodenum cancer null http://purl.obolibrary.org/obo/MONDO_0000920 node EFO_0010543 uridine diphosphate galactose measurement null http://www.ebi.ac.uk/efo/EFO_0010543 node CHEBI_70749 O-hexanoylcarnitine null http://purl.obolibrary.org/obo/CHEBI_70749 node Orphanet_263297 Glycogen storage disease due to glycogenin deficiency null http://www.orpha.net/ORDO/Orphanet_263297 node UBERON_0002302 myocardium of atrium null http://purl.obolibrary.org/obo/UBERON_0002302 node MONDO_0020639 monosomy null http://purl.obolibrary.org/obo/MONDO_0020639 node HP_0012390 Anal fissure null http://purl.obolibrary.org/obo/HP_0012390 node Orphanet_84096 Unknown leukodystrophy null http://www.orpha.net/ORDO/Orphanet_84096 node NCBITaxon_94232 Epinephelus coioides null http://purl.obolibrary.org/obo/NCBITaxon_94232 node CLO_0013096 GM17280 null http://purl.obolibrary.org/obo/CLO_0013096 node MONDO_0020013 rare odontologic disease null http://purl.obolibrary.org/obo/MONDO_0020013 node EFO_1000053 squamous cell breast carcinoma null http://www.ebi.ac.uk/efo/EFO_1000053 node EFO_1000534 Small Intestinal Diffuse Large B-Cell Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000534 node EFO_0010589 matrix metalloproteinase 10 measurement null http://www.ebi.ac.uk/efo/EFO_0010589 node HP_0011123 Inflammatory abnormality of the skin null http://purl.obolibrary.org/obo/HP_0011123 node GO_0006772 thiamine metabolic process null http://purl.obolibrary.org/obo/GO_0006772 node EFO_0003556 obsolete_hyomandibula null http://www.ebi.ac.uk/efo/EFO_0003556 node EFO_0000005 CS57520 null http://www.ebi.ac.uk/efo/EFO_0000005 node CL_0002461 CD103-positive dendritic cell null http://purl.obolibrary.org/obo/CL_0002461 node NCBITaxon_165597 Crocosphaera watsonii WH 8501 null http://purl.obolibrary.org/obo/NCBITaxon_165597 node EFO_0005279 temporomandibular joint disorder null http://www.ebi.ac.uk/efo/EFO_0005279 node EFO_0010631 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies null http://www.ebi.ac.uk/efo/EFO_0010631 node Orphanet_391381 Disorder of asparagine metabolism null http://www.orpha.net/ORDO/Orphanet_391381 node EFO_0004327 electrocardiography null http://www.ebi.ac.uk/efo/EFO_0004327 node NCBITaxon_851 Fusobacterium nucleatum null http://purl.obolibrary.org/obo/NCBITaxon_851 node MONDO_0004724 submandibular gland cancer null http://purl.obolibrary.org/obo/MONDO_0004724 node EFO_0005116 urinary metabolite measurement null http://www.ebi.ac.uk/efo/EFO_0005116 node Orphanet_137834 Frank-Ter Haar syndrome null http://www.orpha.net/ORDO/Orphanet_137834 node MONDO_0018191 tumor of testis and paratestis null http://purl.obolibrary.org/obo/MONDO_0018191 node NCBITaxon_32604 Human herpesvirus 6B null http://purl.obolibrary.org/obo/NCBITaxon_32604 node Orphanet_263783 Partial duplication of the long arm of chromosome X null http://www.orpha.net/ORDO/Orphanet_263783 node GO_0031427 response to methotrexate null http://purl.obolibrary.org/obo/GO_0031427 node EFO_0007948 HIV-associated neurocognitive disorder null http://www.ebi.ac.uk/efo/EFO_0007948 node HP_0005692 Joint hyperflexibility null http://purl.obolibrary.org/obo/HP_0005692 node CHEBI_86392 4-guanidinobutanoate null http://purl.obolibrary.org/obo/CHEBI_86392 node UBERON_0001045 midgut null http://purl.obolibrary.org/obo/UBERON_0001045 node Orphanet_309830 Disorder of catecholamine synthesis null http://www.orpha.net/ORDO/Orphanet_309830 node Orphanet_404466 Female infertility due to zona pellucida defect null http://www.orpha.net/ORDO/Orphanet_404466 node EFO_0006334 total iron binding capacity null http://www.ebi.ac.uk/efo/EFO_0006334 node EFO_0005204 bulimia nervosa null http://www.ebi.ac.uk/efo/EFO_0005204 node Orphanet_99879 Familial isolated hyperparathyroidism null http://www.orpha.net/ORDO/Orphanet_99879 node EFO_0008963 TATL-seq null http://www.ebi.ac.uk/efo/EFO_0008963 node GO_0005773 vacuole null http://purl.obolibrary.org/obo/GO_0005773 node MONDO_0021066 urinary system neoplasm Editor note: note the ONCOTREE class is more general than just bladder http://purl.obolibrary.org/obo/MONDO_0021066 node EFO_0007859 response to interferon null http://www.ebi.ac.uk/efo/EFO_0007859 node EFO_0007169 biliary dyskinesia Editor note: consider ciliary classification http://www.ebi.ac.uk/efo/EFO_0007169 node NCBITaxon_216193 Sylvia communis null http://purl.obolibrary.org/obo/NCBITaxon_216193 node NCBITaxon_10298 Human herpesvirus 1 null http://purl.obolibrary.org/obo/NCBITaxon_10298 node EFO_0006422 HCC1011 null http://www.ebi.ac.uk/efo/EFO_0006422 node NCBITaxon_5076 Penicillium chrysogenum null http://purl.obolibrary.org/obo/NCBITaxon_5076 node GO_0044424 intracellular part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0044424 node Orphanet_79235 Crigler-Najjar syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_79235 node GO_0044237 cellular metabolic process null http://purl.obolibrary.org/obo/GO_0044237 node CLO_0011438 GM09579 null http://purl.obolibrary.org/obo/CLO_0011438 node EFO_0007570 HCS protocol null http://www.ebi.ac.uk/efo/EFO_0007570 node NCBITaxon_56615 Puccinia graminis f. sp. tritici null http://purl.obolibrary.org/obo/NCBITaxon_56615 node Orphanet_447896 tremor - ataxia - central hypomyelination syndrome null http://www.orpha.net/ORDO/Orphanet_447896 node MONDO_0030703 autoimmune vasculitis null http://purl.obolibrary.org/obo/MONDO_0030703 node EFO_0006305 T87 null http://www.ebi.ac.uk/efo/EFO_0006305 node Orphanet_90354 Brittle cornea syndrome null http://www.orpha.net/ORDO/Orphanet_90354 node UBERON_0000079 male reproductive system null http://purl.obolibrary.org/obo/UBERON_0000079 node MONDO_0002998 skull base meningioma null http://purl.obolibrary.org/obo/MONDO_0002998 node NCBITaxon_226900 Bacillus cereus ATCC 14579 null http://purl.obolibrary.org/obo/NCBITaxon_226900 node EFO_0009424 Yersinia enterocolitica infectious disease null http://www.ebi.ac.uk/efo/EFO_0009424 node Orphanet_79323 MPDU1-CDG null http://www.orpha.net/ORDO/Orphanet_79323 node EFO_0006703 NUGC-4 null http://www.ebi.ac.uk/efo/EFO_0006703 node CHEBI_38545 rosuvastatin null http://purl.obolibrary.org/obo/CHEBI_38545 node EFO_0001781 obsolete_disease state design null http://www.ebi.ac.uk/efo/EFO_0001781 node Orphanet_64749 Charcot-Marie-Tooth disease type 4 null http://www.orpha.net/ORDO/Orphanet_64749 node CHEBI_50845 doxycycline null http://purl.obolibrary.org/obo/CHEBI_50845 node NCBITaxon_31192 Holothuria glaberrima null http://purl.obolibrary.org/obo/NCBITaxon_31192 node MONDO_0001433 vaginal disease null http://purl.obolibrary.org/obo/MONDO_0001433 node HP_0000964 Eczema Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis. http://purl.obolibrary.org/obo/HP_0000964 node Orphanet_171690 Metabolic myopathy due to lactate transporter defect null http://www.orpha.net/ORDO/Orphanet_171690 node EFO_0003341 obsolete_ventral thoracic disc null http://www.ebi.ac.uk/efo/EFO_0003341 node Orphanet_2776 Autosomal recessive distal osteolysis syndrome null http://www.orpha.net/ORDO/Orphanet_2776 node EFO_0001946 obsolete_soleus muscle null http://www.ebi.ac.uk/efo/EFO_0001946 node CHEBI_64549 lysophosphatidylcholine 18:2 null http://purl.obolibrary.org/obo/CHEBI_64549 node Orphanet_3133 Say-Field-Coldwell syndrome null http://www.orpha.net/ORDO/Orphanet_3133 node EFO_0001759 growth condition design null http://www.ebi.ac.uk/efo/EFO_0001759 node EFO_0009512 lower extremity fracture null http://www.ebi.ac.uk/efo/EFO_0009512 node Orphanet_79411 Transient bullous dermolysis of the newborn null http://www.orpha.net/ORDO/Orphanet_79411 node Orphanet_98634 Iridogoniodysgenesis Editor note: see https://github.com/monarch-initiative/mondo/issues/203; this groups IRID1 and IRID2 http://www.orpha.net/ORDO/Orphanet_98634 node EFO_1001856 Susac Syndrome null http://www.ebi.ac.uk/efo/EFO_1001856 node EFO_0010474 cystathionine measurement null http://www.ebi.ac.uk/efo/EFO_0010474 node MONDO_0024268 superficial mycosis null http://purl.obolibrary.org/obo/MONDO_0024268 node NCBITaxon_63416 obsolete_Trichophyton megninii null http://purl.obolibrary.org/obo/NCBITaxon_63416 node EFO_0010297 corpus callosum mid-anterior volume measurement null http://www.ebi.ac.uk/efo/EFO_0010297 node EFO_0004191 androgenetic alopecia null http://www.ebi.ac.uk/efo/EFO_0004191 node EFO_0010778 CXCL10 measurement null http://www.ebi.ac.uk/efo/EFO_0010778 node EFO_0008094 complement component C8 measurement null http://www.ebi.ac.uk/efo/EFO_0008094 node Orphanet_976 Adenine phosphoribosyltransferase deficiency null http://www.orpha.net/ORDO/Orphanet_976 node Orphanet_3016 Radius absent - anogenital anomalies null http://www.orpha.net/ORDO/Orphanet_3016 node EFO_0009600 thyroid radioablation therapy null http://www.ebi.ac.uk/efo/EFO_0009600 node EFO_0003089 obsolete_spinocerebellar ataxia type 1 null http://www.ebi.ac.uk/efo/EFO_0003089 node PO_0000026 primary root tip null http://purl.obolibrary.org/obo/PO_0000026 node Orphanet_286 Ehlers-Danlos syndrome, vascular type null http://www.orpha.net/ORDO/Orphanet_286 node EFO_1001944 childhood acute monocytic leukemia null http://www.ebi.ac.uk/efo/EFO_1001944 node NCBITaxon_1581 Lactobacillus buchneri null http://purl.obolibrary.org/obo/NCBITaxon_1581 node UBERON_0002367 prostate gland null http://purl.obolibrary.org/obo/UBERON_0002367 node EFO_1001392 Perimeningeal Infections null http://www.ebi.ac.uk/efo/EFO_1001392 node EFO_1000465 Penile Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000465 node UBERON_0011150 pharyngeal arch derived gill null http://purl.obolibrary.org/obo/UBERON_0011150 node EFO_1000288 Head and Neck Paraganglioma null http://www.ebi.ac.uk/efo/EFO_1000288 node EFO_0004895 Tourette syndrome null http://www.ebi.ac.uk/efo/EFO_0004895 node EFO_0010562 neurodevelopmental disorder with cerebellar hypoplasia and spasticity null http://www.ebi.ac.uk/efo/EFO_0010562 node EFO_0009845 catalepsy null http://www.ebi.ac.uk/efo/EFO_0009845 node NCBITaxon_8049 Gadus morhua null http://purl.obolibrary.org/obo/NCBITaxon_8049 node NCBITaxon_237574 Citrus sunki null http://purl.obolibrary.org/obo/NCBITaxon_237574 node EFO_0010385 phosphatidylcholine 38:3 measurement null http://www.ebi.ac.uk/efo/EFO_0010385 node EFO_0009201 myopic macular degeneration null http://www.ebi.ac.uk/efo/EFO_0009201 node EFO_0001378 multiple myeloma null http://www.ebi.ac.uk/efo/EFO_0001378 node HP_0002575 Tracheoesophageal fistula null http://purl.obolibrary.org/obo/HP_0002575 node MONDO_0017089 isolated megalencephaly null http://purl.obolibrary.org/obo/MONDO_0017089 node CHEBI_64143 depudecin null http://purl.obolibrary.org/obo/CHEBI_64143 node EFO_0008182 interleukin 25 measurement null http://www.ebi.ac.uk/efo/EFO_0008182 node EFO_0002149 Caki1 null http://www.ebi.ac.uk/efo/EFO_0002149 node Orphanet_374 Goldenhar syndrome null http://www.orpha.net/ORDO/Orphanet_374 node MONDO_0014701 spondyloepiphyseal dysplasia, Stanescu type null http://purl.obolibrary.org/obo/MONDO_0014701 node MONDO_0020511 precursor B-cell acute lymphoblastic leukemia null http://purl.obolibrary.org/obo/MONDO_0020511 node MONDO_0003331 ovarian monodermal teratoma null http://purl.obolibrary.org/obo/MONDO_0003331 node EFO_0004983 complement C3 measurement null http://www.ebi.ac.uk/efo/EFO_0004983 node EFO_0010650 creativity measurement null http://www.ebi.ac.uk/efo/EFO_0010650 node EFO_0009728 cochlear implant null http://www.ebi.ac.uk/efo/EFO_0009728 node CHEBI_2360 abacavir null http://purl.obolibrary.org/obo/CHEBI_2360 node EFO_0003412 obsolete_lateral cord glia null http://www.ebi.ac.uk/efo/EFO_0003412 node Orphanet_13 6-pyruvoyl-tetrahydropterin synthase deficiency null http://www.orpha.net/ORDO/Orphanet_13 node EFO_0005135 strain null http://www.ebi.ac.uk/efo/EFO_0005135 node EFO_0009038 Combined oxidative phosphorylation defect type 30 null http://www.ebi.ac.uk/efo/EFO_0009038 node EFO_0002308 OE19 null http://www.ebi.ac.uk/efo/EFO_0002308 node MONDO_0044989 foot disease null http://purl.obolibrary.org/obo/MONDO_0044989 node CL_0000371 protoplast null http://purl.obolibrary.org/obo/CL_0000371 node EFO_0003820 bone neoplasm null http://www.ebi.ac.uk/efo/EFO_0003820 node CHEBI_50864 insulin-sensitizing drug null http://purl.obolibrary.org/obo/CHEBI_50864 node MONDO_0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold null http://purl.obolibrary.org/obo/MONDO_0044318 node NCBITaxon_4931 Saccharomyces bayanus null http://purl.obolibrary.org/obo/NCBITaxon_4931 node NCBITaxon_959 Bdellovibrio bacteriovorus null http://purl.obolibrary.org/obo/NCBITaxon_959 node EFO_1000611 Urothelial Dysplasia This is a finding in NCIT. This class may be obsoleted and ceded to HPO in future. http://www.ebi.ac.uk/efo/EFO_1000611 node NCBITaxon_52586 Erysiphe necator null http://purl.obolibrary.org/obo/NCBITaxon_52586 node EFO_1000939 freemartinism null http://www.ebi.ac.uk/efo/EFO_1000939 node MONDO_0003214 apocrine adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0003214 node UBERON_6001722 ring gland null http://purl.obolibrary.org/obo/UBERON_6001722 node Orphanet_178040 Peripheral precocious puberty null http://www.orpha.net/ORDO/Orphanet_178040 node EFO_0006785 infant body height null http://www.ebi.ac.uk/efo/EFO_0006785 node EFO_0003500 obsolete_rhombomere 8 null http://www.ebi.ac.uk/efo/EFO_0003500 node MONDO_0022723 chondrodysplasia null http://purl.obolibrary.org/obo/MONDO_0022723 node NCBITaxon_9603 Pongo sp. null http://purl.obolibrary.org/obo/NCBITaxon_9603 node Orphanet_96061 Mosaic trisomy 8 null http://www.orpha.net/ORDO/Orphanet_96061 node EFO_0005670 smoking initiation null http://www.ebi.ac.uk/efo/EFO_0005670 node MONDO_0018590 ABeta2M amyloidosis null http://purl.obolibrary.org/obo/MONDO_0018590 node CHEBI_16454 pantothenate null http://purl.obolibrary.org/obo/CHEBI_16454 node EFO_0006873 theta wave measurement null http://www.ebi.ac.uk/efo/EFO_0006873 node EFO_1001767 brain stem neoplasm null http://www.ebi.ac.uk/efo/EFO_1001767 node EFO_0000415 dorsal ectoderm anlage in statu nascendi null http://www.ebi.ac.uk/efo/EFO_0000415 node Orphanet_60030 Loeys-Dietz syndrome null http://www.orpha.net/ORDO/Orphanet_60030 node Orphanet_261257 Distal 17p13.3 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261257 node EFO_1001077 orbital plasma cell granuloma null http://www.ebi.ac.uk/efo/EFO_1001077 node EFO_0004099 derived MAGE-TAB array data matrix file null http://www.ebi.ac.uk/efo/EFO_0004099 node Orphanet_247834 Occult macular dystrophy null http://www.orpha.net/ORDO/Orphanet_247834 node MONDO_0100218 arthrogryposis multiplex congenita 5 null http://purl.obolibrary.org/obo/MONDO_0100218 node Orphanet_168606 Seborrhea-like dermatitis with psoriasiform elements null http://www.orpha.net/ORDO/Orphanet_168606 node EFO_0000503 gastric adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0000503 node EFO_1002007 obsolete_juvenile idiopathic arthritis null http://www.ebi.ac.uk/efo/EFO_1002007 node HP_0012235 Drug-induced agranulocytosis null http://purl.obolibrary.org/obo/HP_0012235 node MONDO_0019740 acquired thrombotic thrombocytopenic purpura null http://purl.obolibrary.org/obo/MONDO_0019740 node MONDO_0100141 moderate COVID-19 infection null http://purl.obolibrary.org/obo/MONDO_0100141 node EFO_0002887 mouse cell line null http://www.ebi.ac.uk/efo/EFO_0002887 node EFO_0007334 obsolete_Klippel-Trenaunay syndrome null http://www.ebi.ac.uk/efo/EFO_0007334 node EFO_0005918 osteoprotegerin measurement null http://www.ebi.ac.uk/efo/EFO_0005918 node EFO_0009691 vestibular disease null http://www.ebi.ac.uk/efo/EFO_0009691 node Orphanet_254857 Lethal infantile mitochondrial myopathy null http://www.orpha.net/ORDO/Orphanet_254857 node GO_0009279 cell outer membrane null http://purl.obolibrary.org/obo/GO_0009279 node Orphanet_475 Joubert syndrome null http://www.orpha.net/ORDO/Orphanet_475 node NCBITaxon_134821 Ureaplasma parvum null http://purl.obolibrary.org/obo/NCBITaxon_134821 node CHEBI_33568 adrenaline null http://purl.obolibrary.org/obo/CHEBI_33568 node CHEBI_48362 but-1-ene null http://purl.obolibrary.org/obo/CHEBI_48362 node Orphanet_79177 Gluconeogenesis disorder null http://www.orpha.net/ORDO/Orphanet_79177 node EFO_0007140 allergic bronchopulmonary aspergillosis null http://www.ebi.ac.uk/efo/EFO_0007140 node NCBITaxon_34245 Zinnia violacea null http://purl.obolibrary.org/obo/NCBITaxon_34245 node NCBITaxon_542 Zymomonas mobilis null http://purl.obolibrary.org/obo/NCBITaxon_542 node EFO_0002975 ILSXISS14/TejJ null http://www.ebi.ac.uk/efo/EFO_0002975 node EFO_0007422 parotid disease null http://www.ebi.ac.uk/efo/EFO_0007422 node CHEBI_18258 3,3',5-triiodo-L-thyronine null http://purl.obolibrary.org/obo/CHEBI_18258 node Orphanet_98260 Adolescent-onset epilepsy syndrome This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. http://www.orpha.net/ORDO/Orphanet_98260 node EFO_0006390 DMS 454 null http://www.ebi.ac.uk/efo/EFO_0006390 node MONDO_0020580 germinomatous germ cell tumor null http://purl.obolibrary.org/obo/MONDO_0020580 node EFO_0009592 social interaction measurement null http://www.ebi.ac.uk/efo/EFO_0009592 node HP_0030838 Hip pain null http://purl.obolibrary.org/obo/HP_0030838 node EFO_0007667 lobe attachment null http://www.ebi.ac.uk/efo/EFO_0007667 node MONDO_0002369 cystadenoma null http://purl.obolibrary.org/obo/MONDO_0002369 node Orphanet_376 Gordon syndrome null http://www.orpha.net/ORDO/Orphanet_376 node EFO_0007023 Glycine max cv. Williams 82. null http://www.ebi.ac.uk/efo/EFO_0007023 node NCBITaxon_114398 Parasteatoda tepidariorum null http://purl.obolibrary.org/obo/NCBITaxon_114398 node Orphanet_2485 Melorheostosis null http://www.orpha.net/ORDO/Orphanet_2485 node NCBITaxon_630 Yersinia enterocolitica null http://purl.obolibrary.org/obo/NCBITaxon_630 node CL_0002053 CD22-positive, CD38-low small pre-B cell Markers are associated with human cell. RAG expression maybe diminishing. http://purl.obolibrary.org/obo/CL_0002053 node Orphanet_98806 Primary dystonia, DYT6 type null http://www.orpha.net/ORDO/Orphanet_98806 node Orphanet_2251 Thumb deformity - alopecia - pigmentation anomaly null http://www.orpha.net/ORDO/Orphanet_2251 node BTO_0000740 myeloid leukemia cell line null http://purl.obolibrary.org/obo/BTO_0000740 node EFO_0001421 liver disease null http://www.ebi.ac.uk/efo/EFO_0001421 node UBERON_0001732 pharyngeal tonsil null http://purl.obolibrary.org/obo/UBERON_0001732 node EFO_0001234 S49 null http://www.ebi.ac.uk/efo/EFO_0001234 node EFO_0000650 whooping cough null http://www.ebi.ac.uk/efo/EFO_0000650 node EFO_0003591 obsolete_neural crest midbrain null http://www.ebi.ac.uk/efo/EFO_0003591 node HP_0000485 Megalocornea null http://purl.obolibrary.org/obo/HP_0000485 node EFO_0001057 lepromatous leprosy null http://www.ebi.ac.uk/efo/EFO_0001057 node Orphanet_667 Autosomal recessive malignant osteopetrosis null http://www.orpha.net/ORDO/Orphanet_667 node NCBITaxon_290402 Clostridium beijerinckii NCIMB 8052 null http://purl.obolibrary.org/obo/NCBITaxon_290402 node EFO_0001642 lymphoid neoplasm null http://www.ebi.ac.uk/efo/EFO_0001642 node NCBITaxon_528351 Neisseria gonorrhoeae F62 null http://purl.obolibrary.org/obo/NCBITaxon_528351 node CHEBI_49662 indomethacin null http://purl.obolibrary.org/obo/CHEBI_49662 node MONDO_0002678 pediatric fibrosarcoma null http://purl.obolibrary.org/obo/MONDO_0002678 node MONDO_0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy null http://purl.obolibrary.org/obo/MONDO_0012611 node EFO_0008128 fetuin-B measurement null http://www.ebi.ac.uk/efo/EFO_0008128 node CL_0000841 mature conventional dendritic cell null http://purl.obolibrary.org/obo/CL_0000841 node EFO_0004586 complete blood cell count null http://www.ebi.ac.uk/efo/EFO_0004586 node NCBITaxon_139 Borrelia burgdorferi null http://purl.obolibrary.org/obo/NCBITaxon_139 node Orphanet_369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome null http://www.orpha.net/ORDO/Orphanet_369992 node EFO_0001322 fertilized egg stage null http://www.ebi.ac.uk/efo/EFO_0001322 node CHEBI_16947 citrate(3-) null http://purl.obolibrary.org/obo/CHEBI_16947 node EFO_0001145 GM12248 null http://www.ebi.ac.uk/efo/EFO_0001145 node EFO_0001730 biosequence provider null http://www.ebi.ac.uk/efo/EFO_0001730 node EFO_0003492 obsolete_head mesenchyme null http://www.ebi.ac.uk/efo/EFO_0003492 node NCBITaxon_1360 Lactococcus lactis subsp. lactis null http://purl.obolibrary.org/obo/NCBITaxon_1360 node MONDO_0020226 chromosomal anomaly with cataract null http://purl.obolibrary.org/obo/MONDO_0020226 node EFO_0008216 lysozyme C measurement null http://www.ebi.ac.uk/efo/EFO_0008216 node Orphanet_100996 Autosomal recessive spastic paraplegia type 15 null http://www.orpha.net/ORDO/Orphanet_100996 node Orphanet_293462 Pre-Descemet corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_293462 node EFO_0003103 urinary tract infection null http://www.ebi.ac.uk/efo/EFO_0003103 node NCBITaxon_5759 Entamoeba histolytica null http://purl.obolibrary.org/obo/NCBITaxon_5759 node Orphanet_171860 Intellectual disability - cataracts - kyphosis null http://www.orpha.net/ORDO/Orphanet_171860 node NCBITaxon_78864 Fusarium globosum null http://purl.obolibrary.org/obo/NCBITaxon_78864 node Orphanet_91131 DK1-CDG null http://www.orpha.net/ORDO/Orphanet_91131 node NCBITaxon_9860 Cervus elaphus null http://purl.obolibrary.org/obo/NCBITaxon_9860 node EFO_0009203 Carboxyhemoglobin to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009203 node EFO_0005803 hematologic disease placeholder for lymphoid disease http://www.ebi.ac.uk/efo/EFO_0005803 node EFO_1000149 Calcifying Nested Epithelial Stromal Tumor of the Liver null http://www.ebi.ac.uk/efo/EFO_1000149 node CHEBI_31690 imatinib methanesulfonate null http://purl.obolibrary.org/obo/CHEBI_31690 node EFO_0010246 recurrent null http://www.ebi.ac.uk/efo/EFO_0010246 node EFO_0004140 obsolete_campomelic dysplasia null http://www.ebi.ac.uk/efo/EFO_0004140 node EFO_0010727 vacuum aspiration null http://www.ebi.ac.uk/efo/EFO_0010727 node Orphanet_1810 Autosomal dominant hypohidrotic ectodermal dysplasia null http://www.orpha.net/ORDO/Orphanet_1810 node EFO_0000119 CS57789 null http://www.ebi.ac.uk/efo/EFO_0000119 node MONDO_0020513 spermatocytic seminoma null http://purl.obolibrary.org/obo/MONDO_0020513 node Orphanet_37553 Cardiodysrhythmic potassium-sensitive periodic paralysis null http://www.orpha.net/ORDO/Orphanet_37553 node EFO_1001341 Heavy Chain Disease null http://www.ebi.ac.uk/efo/EFO_1001341 node CLO_0016647 GM17770 null http://purl.obolibrary.org/obo/CLO_0016647 node EFO_0004259 osteonecrosis null http://www.ebi.ac.uk/efo/EFO_0004259 node EFO_0005771 ovarian disease null http://www.ebi.ac.uk/efo/EFO_0005771 node EFO_0000473 epigenetic status null http://www.ebi.ac.uk/efo/EFO_0000473 node EFO_0004844 hip bone size null http://www.ebi.ac.uk/efo/EFO_0004844 node NCBITaxon_189518 Leptospira interrogans serovar Lai str. 56601 null http://purl.obolibrary.org/obo/NCBITaxon_189518 node EFO_1000237 Endometrial Polyp null http://www.ebi.ac.uk/efo/EFO_1000237 node EFO_0000954 obsolete_epidermis null http://www.ebi.ac.uk/efo/EFO_0000954 node EFO_1001154 retinal artery occlusion null http://www.ebi.ac.uk/efo/EFO_1001154 node Orphanet_1375 Cataract - hypertrichosis - intellectual disability null http://www.orpha.net/ORDO/Orphanet_1375 node HP_0002043 Esophageal stricture Gastroesophageal reflux is a common cause of esophageal stricture. http://purl.obolibrary.org/obo/HP_0002043 node EFO_0005584 seborrheic keratosis null http://www.ebi.ac.uk/efo/EFO_0005584 node EFO_0010334 temporal pole volume measurement null http://www.ebi.ac.uk/efo/EFO_0010334 node MONDO_0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis null http://purl.obolibrary.org/obo/MONDO_0017038 node MONDO_0043003 familial acanthosis nigricans null http://purl.obolibrary.org/obo/MONDO_0043003 node EFO_0010147 temporal lobe volume measurement null http://www.ebi.ac.uk/efo/EFO_0010147 node CL_0002458 langerin-positive dermal dendritic cell null http://purl.obolibrary.org/obo/CL_0002458 node EFO_0004041 NPC null http://www.ebi.ac.uk/efo/EFO_0004041 node EFO_0010628 natriuretic peptides B measurement null http://www.ebi.ac.uk/efo/EFO_0010628 node EFO_0010076 femoral neck size null http://www.ebi.ac.uk/efo/EFO_0010076 node EFO_0003043 NCI-H1299 null http://www.ebi.ac.uk/efo/EFO_0003043 node EFO_0002116 BHT101 null http://www.ebi.ac.uk/efo/EFO_0002116 node UO_0000080 square meter null http://purl.obolibrary.org/obo/UO_0000080 node EFO_0000561 knock in expression null http://www.ebi.ac.uk/efo/EFO_0000561 node MONDO_0001558 Potter sequence Editor note: check for subtypes, relationship to OMIM:263200 http://purl.obolibrary.org/obo/MONDO_0001558 node Orphanet_71517 Rapid-onset dystonia-parkinsonism null http://www.orpha.net/ORDO/Orphanet_71517 node EFO_1001242 Wernicke-Korsakoff syndrome Editor note: todo check http://www.ebi.ac.uk/efo/EFO_1001242 node Orphanet_108959 Non-syndromic esophageal malformation null http://www.orpha.net/ORDO/Orphanet_108959 node GO_1904057 negative regulation of sensory perception of pain null http://purl.obolibrary.org/obo/GO_1904057 node NCBITaxon_4081 Solanum lycopersicum null http://purl.obolibrary.org/obo/NCBITaxon_4081 node EFO_0005672 acute coronary syndrome null http://www.ebi.ac.uk/efo/EFO_0005672 node EFO_0004745 NT-proBNP measurement null http://www.ebi.ac.uk/efo/EFO_0004745 node NCBITaxon_70095 Penicillium fellutanum null http://purl.obolibrary.org/obo/NCBITaxon_70095 node UBERON_0000926 mesoderm null http://purl.obolibrary.org/obo/UBERON_0000926 node Orphanet_98893 Congenital muscular dystrophy type 1B null http://www.orpha.net/ORDO/Orphanet_98893 node Orphanet_199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type null http://www.orpha.net/ORDO/Orphanet_199326 node Orphanet_295079 Tibial hemimelia, bilateral null http://www.orpha.net/ORDO/Orphanet_295079 node HP_0002248 Hematemesis The source of hematemesis is generally the upper gastrointestinal tract. http://purl.obolibrary.org/obo/HP_0002248 node NCBITaxon_393121 Listeria monocytogenes FSL J2-071 null http://purl.obolibrary.org/obo/NCBITaxon_393121 node MONDO_0001823 sick sinus syndrome null http://purl.obolibrary.org/obo/MONDO_0001823 node OBI_1110021 infect null http://purl.obolibrary.org/obo/OBI_1110021 node NCBITaxon_98794 Buchnera aphidicola (Schizaphis graminum) null http://purl.obolibrary.org/obo/NCBITaxon_98794 node Orphanet_98577 Kinetic eyelid anomaly null http://www.orpha.net/ORDO/Orphanet_98577 node Orphanet_309152 GM2 gangliosidosis null http://www.orpha.net/ORDO/Orphanet_309152 node MONDO_0014498 familial cold autoinflammatory syndrome 4 null http://purl.obolibrary.org/obo/MONDO_0014498 node MONDO_0009776 spermatogenic failure 1 null http://purl.obolibrary.org/obo/MONDO_0009776 node Orphanet_2989 Pterygium of the conjunctiva, familial form null http://www.orpha.net/ORDO/Orphanet_2989 node Orphanet_98981 Essential iris atrophy null http://www.orpha.net/ORDO/Orphanet_98981 node EFO_0006419 HCC0089 null http://www.ebi.ac.uk/efo/EFO_0006419 node CHEBI_28748 doxorubicin null http://purl.obolibrary.org/obo/CHEBI_28748 node EFO_0003014 breast fibrocystic disease Some sources classify this as neoplastic but we follow NCIT and classify as non-neoplastic http://www.ebi.ac.uk/efo/EFO_0003014 node Orphanet_98665 Colobomatous and areolar dystrophy null http://www.orpha.net/ORDO/Orphanet_98665 node MONDO_0015656 metabolic disease with epilepsy null http://purl.obolibrary.org/obo/MONDO_0015656 node Orphanet_101029 Sub-cortical nodular heterotopia null http://www.orpha.net/ORDO/Orphanet_101029 node Orphanet_98959 Subepithelial mucinous corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98959 node MONDO_0032902 Joubert syndrome 36 null http://purl.obolibrary.org/obo/MONDO_0032902 node Orphanet_140468 Autosomal recessive distal hereditary motor neuropathy null http://www.orpha.net/ORDO/Orphanet_140468 node HP_0000820 Abnormality of the thyroid gland null http://purl.obolibrary.org/obo/HP_0000820 node CHEBI_45267 praziquantel null http://purl.obolibrary.org/obo/CHEBI_45267 node EFO_0008579 risk-taking behaviour null http://www.ebi.ac.uk/efo/EFO_0008579 node NCBITaxon_7469 Apis mellifera ligustica null http://purl.obolibrary.org/obo/NCBITaxon_7469 node EFO_0007832 single cell sequencing null http://www.ebi.ac.uk/efo/EFO_0007832 node EFO_0006905 response to abacavir null http://www.ebi.ac.uk/efo/EFO_0006905 node Orphanet_293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency null http://www.orpha.net/ORDO/Orphanet_293955 node EFO_0008621 Microcystic Renal Disease null http://www.ebi.ac.uk/efo/EFO_0008621 node MONDO_0030025 neurodevelopmental disorder with hypotonia, microcephaly, and seizures null http://purl.obolibrary.org/obo/MONDO_0030025 node MONDO_0003915 cortical thymoma null http://purl.obolibrary.org/obo/MONDO_0003915 node MONDO_0014506 hypomyelinating leukodystrophy 9 null http://purl.obolibrary.org/obo/MONDO_0014506 node NCBITaxon_6280 Brugia pahangi null http://purl.obolibrary.org/obo/NCBITaxon_6280 node MONDO_0033547 Li-Ghorbani-Weisz-Hubshman syndrome null http://purl.obolibrary.org/obo/MONDO_0033547 node Orphanet_371024 Qualitative or quantitative defects of alpha-dystroglycan null http://www.orpha.net/ORDO/Orphanet_371024 node NCBITaxon_272624 Legionella pneumophila subsp. pneumophila str. Philadelphia 1 null http://purl.obolibrary.org/obo/NCBITaxon_272624 node EFO_0008667 BSPP null http://www.ebi.ac.uk/efo/EFO_0008667 node UBERON_0000310 breast null http://purl.obolibrary.org/obo/UBERON_0000310 node MONDO_0000214 hypermanganesemia with dystonia null http://purl.obolibrary.org/obo/MONDO_0000214 node EFO_1000603 Unclassified Renal Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000603 node EFO_0007025 YEPD null http://www.ebi.ac.uk/efo/EFO_0007025 node EFO_0003625 obsolete_myoseptum null http://www.ebi.ac.uk/efo/EFO_0003625 node Orphanet_295187 Zygodactyly type 1 null http://www.orpha.net/ORDO/Orphanet_295187 node NCBITaxon_174633 Candidatus Kuenenia stuttgartiensis null http://purl.obolibrary.org/obo/NCBITaxon_174633 node EFO_1000416 Ovarian Endometrioid Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000416 node Orphanet_35093 Isolated scaphocephaly null http://www.orpha.net/ORDO/Orphanet_35093 node EFO_0003929 relapsing-remitting multiple sclerosis null http://www.ebi.ac.uk/efo/EFO_0003929 node NCBITaxon_1311 Streptococcus agalactiae null http://purl.obolibrary.org/obo/NCBITaxon_1311 node EFO_1000239 Endometrial Small Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000239 node EFO_1000824 asphyxia neonatorum null http://www.ebi.ac.uk/efo/EFO_1000824 node HP_0031030 Elevated carcinoma antigen 125 level null http://purl.obolibrary.org/obo/HP_0031030 node MONDO_0015914 primary orthostatic hypotension null http://purl.obolibrary.org/obo/MONDO_0015914 node EFO_0009701 visceral:total adipose tissue ratio null http://www.ebi.ac.uk/efo/EFO_0009701 node Orphanet_280325 Distal monosomy 12p null http://www.orpha.net/ORDO/Orphanet_280325 node EFO_1000210 Cribriform Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000210 node UBERON_0001734 palatine uvula seeAlso - bifid uvula and cleft palate http://purl.obolibrary.org/obo/UBERON_0001734 node EFO_0005387 JeKo-1 null http://www.ebi.ac.uk/efo/EFO_0005387 node EFO_0006998 response to stavudine null http://www.ebi.ac.uk/efo/EFO_0006998 node EFO_0003593 obsolete_posterior lateral line neuromast null http://www.ebi.ac.uk/efo/EFO_0003593 node EFO_0002666 monocyte-derived osteoclast null http://www.ebi.ac.uk/efo/EFO_0002666 node Orphanet_65748 Multiple keratoacanthoma, Ferguson-Smith type null http://www.orpha.net/ORDO/Orphanet_65748 node EFO_0003713 obsolete_liver (Gallus gallus) null http://www.ebi.ac.uk/efo/EFO_0003713 node Orphanet_325 Congenital factor II deficiency null http://www.orpha.net/ORDO/Orphanet_325 node CLO_0031665 GM14583 null http://purl.obolibrary.org/obo/CLO_0031665 node NCBITaxon_11082 West Nile virus null http://purl.obolibrary.org/obo/NCBITaxon_11082 node EFO_1000504 Rectal Tubular Adenoma null http://www.ebi.ac.uk/efo/EFO_1000504 node Orphanet_148 Multiple carboxylase deficiency null http://www.orpha.net/ORDO/Orphanet_148 node EFO_0009283 potassium measurement null http://www.ebi.ac.uk/efo/EFO_0009283 node EFO_1000327 Low Grade Central Osteosarcoma null http://www.ebi.ac.uk/efo/EFO_1000327 node CL_0002002 Kit-positive granulocyte monocyte progenitor Markers are found on mouse cells. http://purl.obolibrary.org/obo/CL_0002002 node EFO_1000912 eccrine acrospiroma null http://www.ebi.ac.uk/efo/EFO_1000912 node Orphanet_137783 Lethal congenital contracture syndrome type 3 null http://www.orpha.net/ORDO/Orphanet_137783 node Orphanet_3205 Sturge-Weber syndrome null http://www.orpha.net/ORDO/Orphanet_3205 node Orphanet_85192 Calvarial doughnut lesions - bone fragility null http://www.orpha.net/ORDO/Orphanet_85192 node CHEBI_12777 vitamin A null http://purl.obolibrary.org/obo/CHEBI_12777 node EFO_0000281 basal-like breast carcinoma null http://www.ebi.ac.uk/efo/EFO_0000281 node MONDO_0016742 mixed germ cell tumor of central nervous system null http://purl.obolibrary.org/obo/MONDO_0016742 node Orphanet_401830 Autosomal recessive spastic paraplegia type 69 null http://www.orpha.net/ORDO/Orphanet_401830 node EFO_1000111 Benign Kidney Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000111 node EFO_0005288 non-small cell lung adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0005288 node Orphanet_244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis null http://www.orpha.net/ORDO/Orphanet_244305 node EFO_0006899 PCSK9 protein measurement null http://www.ebi.ac.uk/efo/EFO_0006899 node EFO_0003494 obsolete_lens placode null http://www.ebi.ac.uk/efo/EFO_0003494 node NCBITaxon_4558 Sorghum bicolor null http://purl.obolibrary.org/obo/NCBITaxon_4558 node Orphanet_88642 Channelopathy-associated congenital insensitivity to pain null http://www.orpha.net/ORDO/Orphanet_88642 node Orphanet_289869 Disorder of ornithine metabolism null http://www.orpha.net/ORDO/Orphanet_289869 node HP_0002221 Absent axillary hair null http://purl.obolibrary.org/obo/HP_0002221 node MONDO_0100084 actinopathy The most penetrant phenotype among all of the actinopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with ACTA1 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum. http://purl.obolibrary.org/obo/MONDO_0100084 node MONDO_0018686 acquired Creutzfeldt-Jakob disease null http://purl.obolibrary.org/obo/MONDO_0018686 node Orphanet_634 Netherton syndrome null http://www.orpha.net/ORDO/Orphanet_634 node MONDO_0012738 long QT syndrome 11 null http://purl.obolibrary.org/obo/MONDO_0012738 node Orphanet_108971 Non-syndromic visceral malformation null http://www.orpha.net/ORDO/Orphanet_108971 node OBI_0400103 DNA sequencer null http://purl.obolibrary.org/obo/OBI_0400103 node Orphanet_85280 X-linked intellectual disability - cubitus valgus - dysmorphism null http://www.orpha.net/ORDO/Orphanet_85280 node EFO_0004535 serum albumin measurement null http://www.ebi.ac.uk/efo/EFO_0004535 node EFO_1001050 multiple system atrophy null http://www.ebi.ac.uk/efo/EFO_1001050 node Orphanet_183570 Genetic malformation syndrome with short stature null http://www.orpha.net/ORDO/Orphanet_183570 node DOID_1947 trichomoniasis null http://purl.obolibrary.org/obo/DOID_1947 node CHEBI_73025 O-isovalerylcarnitine null http://purl.obolibrary.org/obo/CHEBI_73025 node CHEBI_73610 Met-Ala null http://purl.obolibrary.org/obo/CHEBI_73610 node Orphanet_2176 Infantile systemic hyalinosis null http://www.orpha.net/ORDO/Orphanet_2176 node EFO_0004142 colorectal neoplasm null http://www.ebi.ac.uk/efo/EFO_0004142 node EFO_0008955 Structure-Seq null http://www.ebi.ac.uk/efo/EFO_0008955 node NCBITaxon_485 Neisseria gonorrhoeae null http://purl.obolibrary.org/obo/NCBITaxon_485 node MONDO_0021106 laminopathy null http://purl.obolibrary.org/obo/MONDO_0021106 node EFO_0000252 obsolete_amygdala null http://www.ebi.ac.uk/efo/EFO_0000252 node Orphanet_77259 Gaucher disease type 1 null http://www.orpha.net/ORDO/Orphanet_77259 node NCBITaxon_45157 Cyanidioschyzon merolae null http://purl.obolibrary.org/obo/NCBITaxon_45157 node HP_0025517 Hypoplastic hippocampus null http://purl.obolibrary.org/obo/HP_0025517 node MONDO_0000473 arterial disorder null http://purl.obolibrary.org/obo/MONDO_0000473 node EFO_0008768 HT-ChIP null http://www.ebi.ac.uk/efo/EFO_0008768 node Orphanet_228429 Generalized congenital lipodystrophy with myopathy null http://www.orpha.net/ORDO/Orphanet_228429 node MONDO_0000881 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 null http://purl.obolibrary.org/obo/MONDO_0000881 node UBERON_0003086 caudal artery null http://purl.obolibrary.org/obo/UBERON_0003086 node MONDO_0000062 isolated microphthalmia null http://purl.obolibrary.org/obo/MONDO_0000062 node NCBITaxon_573 Klebsiella pneumoniae null http://purl.obolibrary.org/obo/NCBITaxon_573 node EFO_0009982 Trac-Loop null http://www.ebi.ac.uk/efo/EFO_0009982 node MONDO_0002254 syndromic disease null http://purl.obolibrary.org/obo/MONDO_0002254 node EFO_0004043 AB2 null http://www.ebi.ac.uk/efo/EFO_0004043 node HP_0004696 Talipes cavus equinovarus null http://purl.obolibrary.org/obo/HP_0004696 node EFO_0008856 PD-Seq null http://www.ebi.ac.uk/efo/EFO_0008856 node CL_0002319 neural cell null http://purl.obolibrary.org/obo/CL_0002319 node GO_0043656 intracellular region of host null http://purl.obolibrary.org/obo/GO_0043656 node MONDO_0000764 epithelial-stromal TGFBI dystrophy null http://purl.obolibrary.org/obo/MONDO_0000764 node EFO_1000690 epidermolysis bullosa null http://www.ebi.ac.uk/efo/EFO_1000690 node Orphanet_79315 D-2-hydroxyglutaric aciduria null http://www.orpha.net/ORDO/Orphanet_79315 node Orphanet_51083 Familial short QT syndrome null http://www.orpha.net/ORDO/Orphanet_51083 node Orphanet_166119 Isolated osteopoikilosis null http://www.orpha.net/ORDO/Orphanet_166119 node NCBITaxon_43687 Metallosphaera sedula null http://purl.obolibrary.org/obo/NCBITaxon_43687 node Orphanet_98356 Autosomal recessive isolated diffuse palmoplantar keratoderma null http://www.orpha.net/ORDO/Orphanet_98356 node NCBITaxon_73501 Cordyceps militaris null http://purl.obolibrary.org/obo/NCBITaxon_73501 node EFO_1000994 intracranial vasospasm null http://www.ebi.ac.uk/efo/EFO_1000994 node MONDO_0002342 chondromalacia null http://purl.obolibrary.org/obo/MONDO_0002342 node EFO_0006508 cotinine glucuronidation measurement null http://www.ebi.ac.uk/efo/EFO_0006508 node EFO_0009893 response to oxcarbazepine null http://www.ebi.ac.uk/efo/EFO_0009893 node Orphanet_316226 Spastic ataxia null http://www.orpha.net/ORDO/Orphanet_316226 node CL_0002407 mature Vgamma2-positive thymocyte NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. http://purl.obolibrary.org/obo/CL_0002407 node NCBITaxon_882 Desulfovibrio vulgaris str. Hildenborough null http://purl.obolibrary.org/obo/NCBITaxon_882 node EFO_0010025 PASP null http://www.ebi.ac.uk/efo/EFO_0010025 node EFO_0008251 non-receptor tyrosine-protein kinase TYK2 measurement null http://www.ebi.ac.uk/efo/EFO_0008251 node MONDO_0013343 C1Q deficiency null http://purl.obolibrary.org/obo/MONDO_0013343 node EFO_0008064 calpain I measurement null http://www.ebi.ac.uk/efo/EFO_0008064 node Orphanet_1412 Tarsal-carpal coalition syndrome null http://www.orpha.net/ORDO/Orphanet_1412 node HP_0001943 Hypoglycemia null http://purl.obolibrary.org/obo/HP_0001943 node MONDO_0024464 pituitary hormone deficiency, combined, 1 null http://purl.obolibrary.org/obo/MONDO_0024464 node Orphanet_99361 Familial medullary thyroid carcinoma null http://www.orpha.net/ORDO/Orphanet_99361 node Orphanet_97945 Intestinal malformation null http://www.orpha.net/ORDO/Orphanet_97945 node EFO_0003899 contracture null http://www.ebi.ac.uk/efo/EFO_0003899 node EFO_0007523 trichostrongylosis null http://www.ebi.ac.uk/efo/EFO_0007523 node UBERON_0000982 skeletal joint null http://purl.obolibrary.org/obo/UBERON_0000982 node Orphanet_1225 Baller-Gerold syndrome null http://www.orpha.net/ORDO/Orphanet_1225 node Orphanet_98257 Neonatal epilepsy syndrome This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. http://www.orpha.net/ORDO/Orphanet_98257 node Orphanet_3292 Tel Hashomer camptodactyly syndrome null http://www.orpha.net/ORDO/Orphanet_3292 node EFO_0002462 foetal structure null http://www.ebi.ac.uk/efo/EFO_0002462 node CL_0000514 smooth muscle myoblast null http://purl.obolibrary.org/obo/CL_0000514 node Orphanet_2669 Nephrosis - deafness - urinary tract - digital malformations null http://www.orpha.net/ORDO/Orphanet_2669 node Orphanet_968 Acromesomelic dysplasia, Hunter-Thomson type null http://www.orpha.net/ORDO/Orphanet_968 node EFO_1000661 Achenbach syndrome null http://www.ebi.ac.uk/efo/EFO_1000661 node EFO_0008152 hepatocyte growth factor activator measurement null http://www.ebi.ac.uk/efo/EFO_0008152 node Orphanet_254830 Mitochondrial substrate carrier disorder null http://www.orpha.net/ORDO/Orphanet_254830 node EFO_0007611 SU-DHL-2 null http://www.ebi.ac.uk/efo/EFO_0007611 node Orphanet_217266 BNAR syndrome null http://www.orpha.net/ORDO/Orphanet_217266 node Orphanet_3380 Trisomy 18 null http://www.orpha.net/ORDO/Orphanet_3380 node Orphanet_167 Chédiak-Higashi syndrome null http://www.orpha.net/ORDO/Orphanet_167 node EFO_0008373 left ventricular ejection fraction measurement null http://www.ebi.ac.uk/efo/EFO_0008373 node Orphanet_261875 Partial deletion of the short arm of chromosome 3 null http://www.orpha.net/ORDO/Orphanet_261875 node EFO_0002550 obsolete_brachiocephalic artery null http://www.ebi.ac.uk/efo/EFO_0002550 node EFO_0001418 obsolete_biceps femoris null http://www.ebi.ac.uk/efo/EFO_0001418 node EFO_1000290 obsolete_hemopoietic system null http://www.ebi.ac.uk/efo/EFO_1000290 node EFO_0002363 SW1573 null http://www.ebi.ac.uk/efo/EFO_0002363 node Orphanet_69126 Pyogenic arthritis - pyoderma gangrenosum - acne null http://www.orpha.net/ORDO/Orphanet_69126 node Orphanet_869 Triple A syndrome null http://www.orpha.net/ORDO/Orphanet_869 node EFO_0009229 Reticulocyte Corpuscular Hemoglobin Content null http://www.ebi.ac.uk/efo/EFO_0009229 node EFO_0004331 obsolete_tooth eruption null http://www.ebi.ac.uk/efo/EFO_0004331 node EFO_0003404 obsolete_embryonic tracheole null http://www.ebi.ac.uk/efo/EFO_0003404 node MONDO_0033549 optic atrophy 12 null http://purl.obolibrary.org/obo/MONDO_0033549 node UBERON_0001874 putamen null http://purl.obolibrary.org/obo/UBERON_0001874 node Orphanet_2839 Pelvis-shoulder dysplasia null http://www.orpha.net/ORDO/Orphanet_2839 node EFO_0004144 acatalasia null http://www.ebi.ac.uk/efo/EFO_0004144 node MONDO_0021674 post-viral disorder null http://purl.obolibrary.org/obo/MONDO_0021674 node EFO_0002831 MKN28 null http://www.ebi.ac.uk/efo/EFO_0002831 node NCBITaxon_280463 Emiliania huxleyi CCMP1516 null http://purl.obolibrary.org/obo/NCBITaxon_280463 node Orphanet_269550 Genetic non-syndromic central nervous system malformation Editor note: ORDO has various potentially syndromic disease groupings under here, we modify these. See https://github.com/monarch-initiative/mondo-build/issues/58 http://www.orpha.net/ORDO/Orphanet_269550 node GO_0009117 nucleotide metabolic process null http://purl.obolibrary.org/obo/GO_0009117 node EFO_1001367 Medial Tibial Stress Syndrome null http://www.ebi.ac.uk/efo/EFO_1001367 node EFO_1001848 squamous odontogenic tumor null http://www.ebi.ac.uk/efo/EFO_1001848 node EFO_0006777 WSU-NHL null http://www.ebi.ac.uk/efo/EFO_0006777 node EFO_0009317 GM20431 null http://www.ebi.ac.uk/efo/EFO_0009317 node Orphanet_261846 Partial deletion of chromosome 20 null http://www.orpha.net/ORDO/Orphanet_261846 node MONDO_0003019 potassium deficiency disease Editor note: NCIT hypokalemia is a finding. We use potassium deficiency disorder for equivalence but this is listed as nutritional in NCIT http://purl.obolibrary.org/obo/MONDO_0003019 node MONDO_0015916 rare neuroinflammatory or neuroimmunological disease null http://purl.obolibrary.org/obo/MONDO_0015916 node NCBITaxon_4502 Bromus secalinus null http://purl.obolibrary.org/obo/NCBITaxon_4502 node EFO_0004232 eosinophilic esophagitis null http://www.ebi.ac.uk/efo/EFO_0004232 node EFO_0007208 Churg-Strauss syndrome null http://www.ebi.ac.uk/efo/EFO_0007208 node Orphanet_397735 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation null http://www.orpha.net/ORDO/Orphanet_397735 node NCBITaxon_1604 Lactobacillus amylovorus null http://purl.obolibrary.org/obo/NCBITaxon_1604 node NCBITaxon_410289 Mycobacterium bovis BCG str. Pasteur 1173P2 null http://purl.obolibrary.org/obo/NCBITaxon_410289 node UBERON_0001114 right lobe of liver null http://purl.obolibrary.org/obo/UBERON_0001114 node EFO_1001455 auditory system disease null http://www.ebi.ac.uk/efo/EFO_1001455 node CHEBI_37699 protein kinase inhibitor null http://purl.obolibrary.org/obo/CHEBI_37699 node Orphanet_295136 Symbrachydactyly of hand and foot, unilateral null http://www.orpha.net/ORDO/Orphanet_295136 node EFO_1001936 adult T acute lymphoblastic leukemia null http://www.ebi.ac.uk/efo/EFO_1001936 node EFO_0005885 obsolete_left atrium null http://www.ebi.ac.uk/efo/EFO_0005885 node EFO_0004958 Clark level II null http://www.ebi.ac.uk/efo/EFO_0004958 node EFO_0009405 parasubiculum volume null http://www.ebi.ac.uk/efo/EFO_0009405 node MONDO_0003107 infratentorial cancer null http://purl.obolibrary.org/obo/MONDO_0003107 node EFO_0006678 NCI-H2369 null http://www.ebi.ac.uk/efo/EFO_0006678 node MONDO_0004640 alcoholic gastritis null http://purl.obolibrary.org/obo/MONDO_0004640 node Orphanet_1892 Ectrodactyly - polydactyly null http://www.orpha.net/ORDO/Orphanet_1892 node MONDO_0015817 aggressive primary cutaneous T-cell lymphoma null http://purl.obolibrary.org/obo/MONDO_0015817 node MONDO_0019590 rare endocrine growth disease null http://purl.obolibrary.org/obo/MONDO_0019590 node EFO_0005082 Illumina Genome Analyzer standard manufacturer's protocol null http://www.ebi.ac.uk/efo/EFO_0005082 node Orphanet_206644 Progressive muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_206644 node MONDO_0017987 syringomyelia null http://purl.obolibrary.org/obo/MONDO_0017987 node EFO_1001338 obsolete_Hearing Loss, Noise-Induced null http://www.ebi.ac.uk/efo/EFO_1001338 node UBERON_0001015 musculature null http://purl.obolibrary.org/obo/UBERON_0001015 node EFO_0010593 cystatin B measurement null http://www.ebi.ac.uk/efo/EFO_0010593 node EFO_0005768 response to rate control therapy null http://www.ebi.ac.uk/efo/EFO_0005768 node OBI_0000750 independent variable specification null http://purl.obolibrary.org/obo/OBI_0000750 node CL_0000994 immature CD11c-negative plasmacytoid dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000008)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0000994 node EFO_0000512 reproductive system disease null http://www.ebi.ac.uk/efo/EFO_0000512 node GO_0042493 response to drug null http://purl.obolibrary.org/obo/GO_0042493 node Orphanet_280671 Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect null http://www.orpha.net/ORDO/Orphanet_280671 node Orphanet_79091 Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia null http://www.orpha.net/ORDO/Orphanet_79091 node NCBITaxon_65016 Cyanophage S-BnM1 null http://purl.obolibrary.org/obo/NCBITaxon_65016 node Orphanet_268823 Occipital encephalocele null http://www.orpha.net/ORDO/Orphanet_268823 node Orphanet_2780 Osteopathia striata - cranial sclerosis null http://www.orpha.net/ORDO/Orphanet_2780 node EFO_0007775 thrombin-antithrombin complex measurement null http://www.ebi.ac.uk/efo/EFO_0007775 node EFO_0006848 mental or behavioural disorder biomarker null http://www.ebi.ac.uk/efo/EFO_0006848 node EFO_0010700 reticulocyte measurement null http://www.ebi.ac.uk/efo/EFO_0010700 node CHEBI_40909 azoxystrobin null http://purl.obolibrary.org/obo/CHEBI_40909 node CHEBI_27407 kinetin null http://purl.obolibrary.org/obo/CHEBI_27407 node EFO_0007863 illness severity status null http://www.ebi.ac.uk/efo/EFO_0007863 node EFO_0006382 COV318 null http://www.ebi.ac.uk/efo/EFO_0006382 node EFO_0010601 hepatitis A virus cellular receptor 1 measurement null http://www.ebi.ac.uk/efo/EFO_0010601 node EFO_0009984 SPRITE null http://www.ebi.ac.uk/efo/EFO_0009984 node CLO_0016503 GM17807 null http://purl.obolibrary.org/obo/CLO_0016503 node UBERON_0002200 vasculature of head null http://purl.obolibrary.org/obo/UBERON_0002200 node MONDO_0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract null http://purl.obolibrary.org/obo/MONDO_0018536 node MONDO_0003686 apocrine sweat gland neoplasm null http://purl.obolibrary.org/obo/MONDO_0003686 node MONDO_0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome null http://purl.obolibrary.org/obo/MONDO_0019457 node EFO_0008717 obsolete_DNaseI-Seq null http://www.ebi.ac.uk/efo/EFO_0008717 node CL_0002470 MHC-II-positive classical monocyte null http://purl.obolibrary.org/obo/CL_0002470 node CLO_0027447 GM15242 null http://purl.obolibrary.org/obo/CLO_0027447 node MONDO_0013809 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome null http://purl.obolibrary.org/obo/MONDO_0013809 node EFO_0001916 obsolete_conjunctival epithelium null http://www.ebi.ac.uk/efo/EFO_0001916 node NCBITaxon_5145 Podospora anserina null http://purl.obolibrary.org/obo/NCBITaxon_5145 node EFO_0006283 KOPT-K1 null http://www.ebi.ac.uk/efo/EFO_0006283 node EFO_0002153 Capan1 null http://www.ebi.ac.uk/efo/EFO_0002153 node EFO_0001226 R18 null http://www.ebi.ac.uk/efo/EFO_0001226 node NCBITaxon_191292 Rhodococcus aetherivorans null http://purl.obolibrary.org/obo/NCBITaxon_191292 node Orphanet_881 Turner syndrome Editor note: consider splitting BU syndrome http://www.orpha.net/ORDO/Orphanet_881 node CLO_0017020 GM17741 null http://purl.obolibrary.org/obo/CLO_0017020 node Orphanet_53347 Brody myopathy null http://www.orpha.net/ORDO/Orphanet_53347 node PO_0007001 early whole plant fruit ripening stage null http://purl.obolibrary.org/obo/PO_0007001 node NCIT_C83527 Alpha-Ketoglutaric Acid null http://purl.obolibrary.org/obo/NCIT_C83527 node Orphanet_73273 Growth delay due to insulin-like growth factor I resistance null http://www.orpha.net/ORDO/Orphanet_73273 node NCBITaxon_40686 Salix viminalis null http://purl.obolibrary.org/obo/NCBITaxon_40686 node MONDO_0002203 constipation disorder null http://purl.obolibrary.org/obo/MONDO_0002203 node EFO_0008324 response to sulfasalazine null http://www.ebi.ac.uk/efo/EFO_0008324 node MONDO_0021041 pleural solitary fibrous tumor null http://purl.obolibrary.org/obo/MONDO_0021041 node EFO_0008805 MethylCap-Seq null http://www.ebi.ac.uk/efo/EFO_0008805 node EFO_0008618 Medullary Cystic Kidney Disease Type II null http://www.ebi.ac.uk/efo/EFO_0008618 node Orphanet_96129 Distal monosomy 19p13.3 null http://www.orpha.net/ORDO/Orphanet_96129 node Orphanet_3071 Costello syndrome null http://www.orpha.net/ORDO/Orphanet_3071 node EFO_0007139 aleutian mink disease null http://www.ebi.ac.uk/efo/EFO_0007139 node IAO_0000098 data format specification null http://purl.obolibrary.org/obo/IAO_0000098 node UBERON_6001779 haltere disc null http://purl.obolibrary.org/obo/UBERON_6001779 node EFO_0009496 C1 100080013 null http://www.ebi.ac.uk/efo/EFO_0009496 node EFO_0002054 Fu97 null http://www.ebi.ac.uk/efo/EFO_0002054 node NCBITaxon_605 Salmonella enterica subsp. enterica serovar Pullorum null http://purl.obolibrary.org/obo/NCBITaxon_605 node MONDO_0001502 retroperitoneum carcinoma null http://purl.obolibrary.org/obo/MONDO_0001502 node EFO_1001860 thymus hyperplasia null http://www.ebi.ac.uk/efo/EFO_1001860 node HP_0003325 Limb-girdle muscle weakness null http://purl.obolibrary.org/obo/HP_0003325 node EFO_0008412 susceptibility to vaginal yeast infection measurement null http://www.ebi.ac.uk/efo/EFO_0008412 node MONDO_0003194 hemangioma of lung null http://purl.obolibrary.org/obo/MONDO_0003194 node Orphanet_91490 Isolated congenital sclerocornea null http://www.orpha.net/ORDO/Orphanet_91490 node Orphanet_293150 Familial clubfoot due to PITX1 point mutation null http://www.orpha.net/ORDO/Orphanet_293150 node EFO_1000756 pityriasis rosea null http://www.ebi.ac.uk/efo/EFO_1000756 node EFO_0006431 HCC2279 null http://www.ebi.ac.uk/efo/EFO_0006431 node EFO_0007227 croup null http://www.ebi.ac.uk/efo/EFO_0007227 node GO_0044433 cytoplasmic vesicle part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0044433 node NCBITaxon_39152 Methanococcus maripaludis null http://purl.obolibrary.org/obo/NCBITaxon_39152 node EFO_0002617 metastatic melanoma null http://www.ebi.ac.uk/efo/EFO_0002617 node EFO_0008013 acid sphingomyelinase-like phosphodiesterase 3a measurement null http://www.ebi.ac.uk/efo/EFO_0008013 node HP_0001387 Joint stiffness null http://purl.obolibrary.org/obo/HP_0001387 node EFO_0003091 obsolete_spinocerebellar ataxia type 17 null http://www.ebi.ac.uk/efo/EFO_0003091 node EFO_0009397 hippocampus molecular layer volume null http://www.ebi.ac.uk/efo/EFO_0009397 node CHEBI_320055 methyl beta-D-glucopyranoside null http://purl.obolibrary.org/obo/CHEBI_320055 node EFO_1000363 Malignant Urinary System Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000363 node ZFA_0000085 apical ectodermal ridge pectoral fin bud null http://purl.obolibrary.org/obo/ZFA_0000085 node EFO_0000858 obsolete_prostate null http://www.ebi.ac.uk/efo/EFO_0000858 node Orphanet_3241 Deafness-craniofacial syndrome null http://www.orpha.net/ORDO/Orphanet_3241 node HP_0003811 Neonatal death null http://purl.obolibrary.org/obo/HP_0003811 node CL_0000797 alpha-beta intraepithelial T cell null http://purl.obolibrary.org/obo/CL_0000797 node EFO_1000292 Hepatoblastoma null http://www.ebi.ac.uk/efo/EFO_1000292 node Orphanet_363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form null http://www.orpha.net/ORDO/Orphanet_363534 node EFO_0009008 Ovarian Hyperandrogenism null http://www.ebi.ac.uk/efo/EFO_0009008 node EFO_0003795 interleukin-1 beta (Mus musculus) null http://www.ebi.ac.uk/efo/EFO_0003795 node GO_0046879 hormone secretion null http://purl.obolibrary.org/obo/GO_0046879 node Orphanet_31837 Pulmonary venoocclusive disease null http://www.orpha.net/ORDO/Orphanet_31837 node Orphanet_324416 Muscular hypertrophy - hepatomegaly - polyhydramnios null http://www.orpha.net/ORDO/Orphanet_324416 node Orphanet_168451 Spondyloepimetaphyseal dysplasia - abnormal dentition null http://www.orpha.net/ORDO/Orphanet_168451 node EFO_0002705 HPL1B null http://www.ebi.ac.uk/efo/EFO_0002705 node Orphanet_293355 Methylmalonic acidemia without homocystinuria null http://www.orpha.net/ORDO/Orphanet_293355 node EFO_0008101 contactin-5 measurement null http://www.ebi.ac.uk/efo/EFO_0008101 node Orphanet_289504 Combined malonic and methylmalonic acidemia null http://www.orpha.net/ORDO/Orphanet_289504 node NCIT_C103149 S-Adenosylhomocysteine An amino acid derivative and an intermediate in the synthesis of cysteine and adenosine. S-adenosylhomocysteine (SAH) is formed upon S-adenosylmethionine (SAM)-dependent methylation (homocysteine methionine cycle) of biological molecules, such as DNA, RNA, and proteins. It is then hydrolyzed by S-adenosylhomocysteine hydrolase to form adenosine and homocysteine. As SAH modulates methylation dependent reactions, SAH levels and the ratio of SAH:SAM may be used to assess methylation status of macrocolecules. http://purl.obolibrary.org/obo/NCIT_C103149 node EFO_0000057 CS57664 null http://www.ebi.ac.uk/efo/EFO_0000057 node EFO_0006942 facial pigmentation measurement null http://www.ebi.ac.uk/efo/EFO_0006942 node HP_0002902 Hyponatremia null http://purl.obolibrary.org/obo/HP_0002902 node Orphanet_247651 Infantile hypophosphatasia null http://www.orpha.net/ORDO/Orphanet_247651 node Orphanet_1571 Knobloch syndrome null http://www.orpha.net/ORDO/Orphanet_1571 node EFO_0001049 obsolete_corm null http://www.ebi.ac.uk/efo/EFO_0001049 node EFO_1000909 duodenogastric reflux null http://www.ebi.ac.uk/efo/EFO_1000909 node EFO_0000465 endocarditis null http://www.ebi.ac.uk/efo/EFO_0000465 node NCBITaxon_1313 Streptococcus pneumoniae null http://purl.obolibrary.org/obo/NCBITaxon_1313 node EFO_1001146 reflex epilepsy null http://www.ebi.ac.uk/efo/EFO_1001146 node CHEBI_72665 12,13-DiHOME null http://purl.obolibrary.org/obo/CHEBI_72665 node MONDO_0018637 familial chylomicronemia syndrome null http://purl.obolibrary.org/obo/MONDO_0018637 node EFO_0000278 pancreatitis null http://www.ebi.ac.uk/efo/EFO_0000278 node CL_0000904 central memory CD4-positive, alpha-beta T cell This cell type is compatible with the HIPC Lyoplate markers for 'central memory CD4+ T cell', but includes additional markers known to be expressed on central memory CD4+ T cells. http://purl.obolibrary.org/obo/CL_0000904 node EFO_0005576 pernicious anemia null http://www.ebi.ac.uk/efo/EFO_0005576 node Orphanet_166084 Von Willebrand disease type 2A null http://www.orpha.net/ORDO/Orphanet_166084 node Orphanet_178338 UV-sensitive syndrome null http://www.orpha.net/ORDO/Orphanet_178338 node MONDO_0002026 candidiasis null http://purl.obolibrary.org/obo/MONDO_0002026 node EFO_0000759 lipoma null http://www.ebi.ac.uk/efo/EFO_0000759 node Orphanet_183666 Hyper-IgM syndrome without susceptibility to opportunistic infections null http://www.orpha.net/ORDO/Orphanet_183666 node MONDO_0017181 hypnic headache (disease) null http://purl.obolibrary.org/obo/MONDO_0017181 node EFO_0002312 P3HR1 null http://www.ebi.ac.uk/efo/EFO_0002312 node MONDO_0044991 upper digestive tract disease null http://purl.obolibrary.org/obo/MONDO_0044991 node Orphanet_93589 Late-onset nephronophthisis null http://www.orpha.net/ORDO/Orphanet_93589 node NCBITaxon_13616 Monodelphis domestica null http://purl.obolibrary.org/obo/NCBITaxon_13616 node Orphanet_88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency null http://www.orpha.net/ORDO/Orphanet_88639 node Orphanet_818 Smith-Lemli-Opitz syndrome null http://www.orpha.net/ORDO/Orphanet_818 node MONDO_0020561 myxoid/round cell liposarcoma null http://purl.obolibrary.org/obo/MONDO_0020561 node EFO_0010670 abnormal chest sounds null http://www.ebi.ac.uk/efo/EFO_0010670 node EFO_0007792 antipsychotic drug use measurement null http://www.ebi.ac.uk/efo/EFO_0007792 node CHEBI_74066 Ile-Gly null http://purl.obolibrary.org/obo/CHEBI_74066 node NCBITaxon_46838 Musa sp. null http://purl.obolibrary.org/obo/NCBITaxon_46838 node PO_0007083 LP.13 thirteen leaves visible stage null http://purl.obolibrary.org/obo/PO_0007083 node Orphanet_85277 X-linked intellectual disability, Cantagrel type null http://www.orpha.net/ORDO/Orphanet_85277 node HP_0012304 Hypoplastic aortic arch null http://purl.obolibrary.org/obo/HP_0012304 node EFO_0005664 blood metabolite measurement null http://www.ebi.ac.uk/efo/EFO_0005664 node MONDO_0000569 autoimmune disease of endocrine system null http://purl.obolibrary.org/obo/MONDO_0000569 node EFO_0004737 carotenoid measurement null http://www.ebi.ac.uk/efo/EFO_0004737 node CHEBI_35804 citrate(1-) null http://purl.obolibrary.org/obo/CHEBI_35804 node CHEBI_9334 sulfasalazine null http://purl.obolibrary.org/obo/CHEBI_9334 node EFO_1001047 mouth disease null http://www.ebi.ac.uk/efo/EFO_1001047 node MONDO_0018035 syndrome with combined immunodeficiency null http://purl.obolibrary.org/obo/MONDO_0018035 node EFO_0005477 obsolete_KARPAS 422 null http://www.ebi.ac.uk/efo/EFO_0005477 node Orphanet_77302 Oculo-oto-facial dysplasia null http://www.orpha.net/ORDO/Orphanet_77302 node Orphanet_1190 Atelosteogenesis type I null http://www.orpha.net/ORDO/Orphanet_1190 node CL_0000071 blood vessel endothelial cell null http://purl.obolibrary.org/obo/CL_0000071 node MONDO_0021259 prostate neoplasm null http://purl.obolibrary.org/obo/MONDO_0021259 node EFO_0007880 response to dendritic cell-based immunotherapy null http://www.ebi.ac.uk/efo/EFO_0007880 node EFO_0000929 obsolete_kidney null http://www.ebi.ac.uk/efo/EFO_0000929 node Orphanet_96201 X small rings null http://www.orpha.net/ORDO/Orphanet_96201 node MONDO_0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures null http://purl.obolibrary.org/obo/MONDO_0030051 node Orphanet_262698 Partial duplication of the short arm of chromosome 2 null http://www.orpha.net/ORDO/Orphanet_262698 node Orphanet_307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease null http://www.orpha.net/ORDO/Orphanet_307055 node EFO_0006539 BHY null http://www.ebi.ac.uk/efo/EFO_0006539 node CL_0000292 obsolete guard cell replaced_by: PO:0000293 http://purl.obolibrary.org/obo/CL_0000292 node MONDO_0012282 Al-Gazali syndrome null http://purl.obolibrary.org/obo/MONDO_0012282 node HP_0012205 Globozoospermia null http://purl.obolibrary.org/obo/HP_0012205 node HP_0002024 Malabsorption null http://purl.obolibrary.org/obo/HP_0002024 node BTO_0000797 colonic cancer cell line null http://purl.obolibrary.org/obo/BTO_0000797 node UBERON_0000974 neck null http://purl.obolibrary.org/obo/UBERON_0000974 node Orphanet_85447 Familial amyloid polyneuropathy null http://www.orpha.net/ORDO/Orphanet_85447 node Orphanet_1438 Ring chromosome 10 null http://www.orpha.net/ORDO/Orphanet_1438 node EFO_0006627 KYSE-150 null http://www.ebi.ac.uk/efo/EFO_0006627 node UBERON_0010743 meningeal cluster null http://purl.obolibrary.org/obo/UBERON_0010743 node Orphanet_2396 Encephalocraniocutaneous lipomatosis null http://www.orpha.net/ORDO/Orphanet_2396 node EFO_0007952 iPS-NIHi11 null http://www.ebi.ac.uk/efo/EFO_0007952 node CHEBI_15551 prostaglandin E2 null http://purl.obolibrary.org/obo/CHEBI_15551 node EFO_0005031 input DNA null http://www.ebi.ac.uk/efo/EFO_0005031 node MONDO_0037746 malignant vaginal mixed epithelial and mesenchymal neoplasm null http://purl.obolibrary.org/obo/MONDO_0037746 node EFO_0010139 fish consumption measurement null http://www.ebi.ac.uk/efo/EFO_0010139 node NCBITaxon_208964 Pseudomonas aeruginosa PAO1 null http://purl.obolibrary.org/obo/NCBITaxon_208964 node MONDO_0002045 communicating hydrocephalus null http://purl.obolibrary.org/obo/MONDO_0002045 node MONDO_0013860 idiopathic membranous glomerulonephritis null http://purl.obolibrary.org/obo/MONDO_0013860 node Orphanet_98558 Rare eye disease due to a differentiation anomaly null http://www.orpha.net/ORDO/Orphanet_98558 node EFO_0008581 salivary gland disease null http://www.ebi.ac.uk/efo/EFO_0008581 node Orphanet_96070 Distal trisomy 2p null http://www.orpha.net/ORDO/Orphanet_96070 node HP_0031801 Vocal cord dysfunction null http://purl.obolibrary.org/obo/HP_0031801 node Orphanet_2484 Osteodysplasty, Melnick-Needles type null http://www.orpha.net/ORDO/Orphanet_2484 node CHEBI_63919 3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol null http://purl.obolibrary.org/obo/CHEBI_63919 node MONDO_0002749 extracranial neuroblastoma null http://purl.obolibrary.org/obo/MONDO_0002749 node MONDO_0024320 inner ear neoplasm null http://purl.obolibrary.org/obo/MONDO_0024320 node UO_0000026 femtogram null http://purl.obolibrary.org/obo/UO_0000026 node HP_0006767 Pituitary prolactin cell adenoma null http://purl.obolibrary.org/obo/HP_0006767 node HP_0004354 Abnormal circulating carboxylic acid concentration Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH). http://purl.obolibrary.org/obo/HP_0004354 node EFO_0002459 obsolete_nucleus accumbens shell null http://www.ebi.ac.uk/efo/EFO_0002459 node EFO_0008890 rG4-seq null http://www.ebi.ac.uk/efo/EFO_0008890 node HP_0003179 Protrusio acetabuli Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head. http://purl.obolibrary.org/obo/HP_0003179 node CL_0002409 mature Vgamma2-negative thymocyte NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. http://purl.obolibrary.org/obo/CL_0002409 node GO_0009507 chloroplast null http://purl.obolibrary.org/obo/GO_0009507 node HP_0008250 Infantile hypercalcemia null http://purl.obolibrary.org/obo/HP_0008250 node EFO_1001790 female athlete triad syndrome null http://www.ebi.ac.uk/efo/EFO_1001790 node Orphanet_401911 AXIN2-related attenuated familial adenomatous polyposis null http://www.orpha.net/ORDO/Orphanet_401911 node CLO_0017022 GM17739 null http://purl.obolibrary.org/obo/CLO_0017022 node Orphanet_99949 Charcot-Marie-Tooth disease type 4C null http://www.orpha.net/ORDO/Orphanet_99949 node Orphanet_262986 Partial duplication of the long arm of chromosome 19 null http://www.orpha.net/ORDO/Orphanet_262986 node EFO_0009348 Anti-Epstein-Barr virus early antigen IgG measurement null http://www.ebi.ac.uk/efo/EFO_0009348 node EFO_0003398 obsolete_capitellum null http://www.ebi.ac.uk/efo/EFO_0003398 node Orphanet_99854 Cree leukoencephalopathy null http://www.orpha.net/ORDO/Orphanet_99854 node EFO_1000921 endomyocardial fibrosis null http://www.ebi.ac.uk/efo/EFO_1000921 node EFO_0002547 NOD mouse null http://www.ebi.ac.uk/efo/EFO_0002547 node CLO_0013964 GM17159 null http://purl.obolibrary.org/obo/CLO_0013964 node NCBITaxon_3760 Prunus persica null http://purl.obolibrary.org/obo/NCBITaxon_3760 node Orphanet_391417 HSD10 disease null http://www.orpha.net/ORDO/Orphanet_391417 node Orphanet_309271 Metachromatic leukodystrophy, adult form null http://www.orpha.net/ORDO/Orphanet_309271 node EFO_1000850 burning mouth syndrome null http://www.ebi.ac.uk/efo/EFO_1000850 node EFO_0009088 dissociation protocol null http://www.ebi.ac.uk/efo/EFO_0009088 node EFO_0009569 trigeminal nerve disease null http://www.ebi.ac.uk/efo/EFO_0009569 node EFO_0003872 colitis null http://www.ebi.ac.uk/efo/EFO_0003872 node CHEBI_1148 2-hydroxybutyric acid null http://purl.obolibrary.org/obo/CHEBI_1148 node EFO_0004661 obsolete_response to flurouracil null http://www.ebi.ac.uk/efo/EFO_0004661 node Orphanet_363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity null http://www.orpha.net/ORDO/Orphanet_363412 node NCBITaxon_413501 Cronobacter muytjensii null http://purl.obolibrary.org/obo/NCBITaxon_413501 node EFO_1001299 Crush Syndrome null http://www.ebi.ac.uk/efo/EFO_1001299 node EFO_0003486 obsolete_ventral mesoderm null http://www.ebi.ac.uk/efo/EFO_0003486 node EFO_0004328 exercise test null http://www.ebi.ac.uk/efo/EFO_0004328 node HP_0000929 Abnormal skull morphology null http://purl.obolibrary.org/obo/HP_0000929 node Orphanet_262887 Partial duplication of the long arm of chromosome 7 null http://www.orpha.net/ORDO/Orphanet_262887 node Orphanet_90120 Hereditary motor and sensory neuropathy type 6 null http://www.orpha.net/ORDO/Orphanet_90120 node GO_0035932 aldosterone secretion null http://purl.obolibrary.org/obo/GO_0035932 node PO_0020126 tassel inflorescence Branched inflorescence with a central axis and about 10-50 lateral branches. http://purl.obolibrary.org/obo/PO_0020126 node Orphanet_181368 Rare insulin-resistance syndrome Editor note: was classified as genetic DM by orphanet, but some subtypes (e.g. acquired generalized lipodystrophy) may not be genetic http://www.orpha.net/ORDO/Orphanet_181368 node EFO_0009657 acute pharyngitis null http://www.ebi.ac.uk/efo/EFO_0009657 node EFO_0003960 computed tomography null http://www.ebi.ac.uk/efo/EFO_0003960 node NCBITaxon_1718 Corynebacterium glutamicum null http://purl.obolibrary.org/obo/NCBITaxon_1718 node Orphanet_572 Immunodeficiency by defective expression of HLA class 2 null http://www.orpha.net/ORDO/Orphanet_572 node Orphanet_255210 Maternally-inherited Leigh syndrome null http://www.orpha.net/ORDO/Orphanet_255210 node HP_0000713 Agitation null http://purl.obolibrary.org/obo/HP_0000713 node EFO_0008015 afamin measurement null http://www.ebi.ac.uk/efo/EFO_0008015 node Orphanet_3020 Ramsay-Hunt syndrome null http://www.orpha.net/ORDO/Orphanet_3020 node Orphanet_295083 Fibular hemimelia, bilateral null http://www.orpha.net/ORDO/Orphanet_295083 node UBERON_0002371 bone marrow null http://purl.obolibrary.org/obo/UBERON_0002371 node Orphanet_1988 Femoral-facial syndrome null http://www.orpha.net/ORDO/Orphanet_1988 node Orphanet_90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency null http://www.orpha.net/ORDO/Orphanet_90031 node MONDO_0003143 angiokeratoma null http://purl.obolibrary.org/obo/MONDO_0003143 node CHEBI_27666 actinomycin D null http://purl.obolibrary.org/obo/CHEBI_27666 node EFO_0005741 infectious disease Replaces 'infection' in disease hierarchy. OBI imported term infection is moved to pathologic process. This class is a container class for infectious diseases, not the process of infection itself. http://www.ebi.ac.uk/efo/EFO_0005741 node EFO_0004814 interleukin-6 receptor measurement null http://www.ebi.ac.uk/efo/EFO_0004814 node MONDO_0018093 arbovirus fever null http://purl.obolibrary.org/obo/MONDO_0018093 node NCBITaxon_9602 Pongo pygmaeus pygmaeus null http://purl.obolibrary.org/obo/NCBITaxon_9602 node Orphanet_98704 Onycho-patellar syndrome with eye involvement null http://www.orpha.net/ORDO/Orphanet_98704 node EFO_0008103 cystatin-D measurement null http://www.ebi.ac.uk/efo/EFO_0008103 node EFO_1000447 Papillary Craniopharyngioma null http://www.ebi.ac.uk/efo/EFO_1000447 node Orphanet_79399 Generalized epidermolysis bullosa simplex, non-Dowling-Meara type null http://www.orpha.net/ORDO/Orphanet_79399 node EFO_0010544 uridine diphosphate glucose measurement null http://www.ebi.ac.uk/efo/EFO_0010544 node EFO_0004902 European HapMap cell line null http://www.ebi.ac.uk/efo/EFO_0004902 node CHEBI_17154 nicotinamide null http://purl.obolibrary.org/obo/CHEBI_17154 node NCBITaxon_29471 Pectobacterium atrosepticum null http://purl.obolibrary.org/obo/NCBITaxon_29471 node CHEBI_46904 oxalate(1-) null http://purl.obolibrary.org/obo/CHEBI_46904 node Orphanet_164001 Rare odontal or periodontal disorder null http://www.orpha.net/ORDO/Orphanet_164001 node Orphanet_231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion null http://www.orpha.net/ORDO/Orphanet_231130 node EFO_1000054 thymic lymphoma null http://www.ebi.ac.uk/efo/EFO_1000054 node Orphanet_2894 Pilotto syndrome null http://www.orpha.net/ORDO/Orphanet_2894 node EFO_1000535 Small Intestinal Enteropathy-Associated T-Cell Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000535 node EFO_0003557 obsolete_interopercle null http://www.ebi.ac.uk/efo/EFO_0003557 node EFO_0010151 soluble triggering receptor expressed on myeloid cells 2 measurement null http://www.ebi.ac.uk/efo/EFO_0010151 node EFO_0000006 CS57521 null http://www.ebi.ac.uk/efo/EFO_0000006 node CL_0002462 adipose dendritic cell null http://purl.obolibrary.org/obo/CL_0002462 node EFO_0010632 Lessel-Kubisch syndrome null http://www.ebi.ac.uk/efo/EFO_0010632 node EFO_0007794 nicotine metabolite ratio null http://www.ebi.ac.uk/efo/EFO_0007794 node CL_0002275 pancreatic PP cell The term PP cell of pancreatic acinus was obsoleted due to a lack of evidence, making PP cell of pancreatic islets synonymous with pancreatic PP cell. http://purl.obolibrary.org/obo/CL_0002275 node MONDO_0004725 rectum carcinoma in situ null http://purl.obolibrary.org/obo/MONDO_0004725 node EFO_0005117 CCL5 measurement null http://www.ebi.ac.uk/efo/EFO_0005117 node EFO_0006704 OAW28 null http://www.ebi.ac.uk/efo/EFO_0006704 node MONDO_0010504 immunodeficiency 47 null http://purl.obolibrary.org/obo/MONDO_0010504 node EFO_0000227 obsolete_adductor mandibulae complex null http://www.ebi.ac.uk/efo/EFO_0000227 node NCBITaxon_1547544 Pithomyces chartarum Entry Merged. Taxid 55173 was merged into taxid 1547544 on January 6, 2016. http://purl.obolibrary.org/obo/NCBITaxon_1547544 node EFO_0000708 squamous cell lung carcinoma In DO this is classified as nscLC, but this leads to logical issues as we have a distinct class for squamous nscLC http://www.ebi.ac.uk/efo/EFO_0000708 node Orphanet_1129 Arachnodactyly - abnormal ossification - intellectual disability null http://www.orpha.net/ORDO/Orphanet_1129 node Orphanet_399388 Avascular necrosis of genetic origin null http://www.orpha.net/ORDO/Orphanet_399388 node EFO_0005338 GM12865 null http://www.ebi.ac.uk/efo/EFO_0005338 node NCBITaxon_85986 Paxillus filamentosus null http://purl.obolibrary.org/obo/NCBITaxon_85986 node Orphanet_2777 Osteomesopyknosis null http://www.orpha.net/ORDO/Orphanet_2777 node MONDO_0001280 choroiditis null http://purl.obolibrary.org/obo/MONDO_0001280 node Orphanet_370968 Congenital muscular dystrophy with intellectual disability null http://www.orpha.net/ORDO/Orphanet_370968 node EFO_0007882 microbiome measurement null http://www.ebi.ac.uk/efo/EFO_0007882 node CHEBI_50630 cyclooxygenase 1 inhibitor null http://purl.obolibrary.org/obo/CHEBI_50630 node NCBITaxon_1681 Bifidobacterium bifidum null http://purl.obolibrary.org/obo/NCBITaxon_1681 node Orphanet_98635 Corneogoniodysgenesis null http://www.orpha.net/ORDO/Orphanet_98635 node EFO_0000315 cardiac mesoderm primordium null http://www.ebi.ac.uk/efo/EFO_0000315 node Orphanet_1217 Spinal atrophy - ophthalmoplegia - pyramidal syndrome null http://www.orpha.net/ORDO/Orphanet_1217 node EFO_0009758 fulminant type 1 diabetes null http://www.ebi.ac.uk/efo/EFO_0009758 node UBERON_0000976 humerus null http://purl.obolibrary.org/obo/UBERON_0000976 node MONDO_0021067 mediastinal germ cell tumor null http://purl.obolibrary.org/obo/MONDO_0021067 node EFO_0000128 CS57816 null http://www.ebi.ac.uk/efo/EFO_0000128 node MONDO_0000904 complex cortical dysplasia with other brain malformations null http://purl.obolibrary.org/obo/MONDO_0000904 node EFO_0005426 autism spectrum disorder symptom null http://www.ebi.ac.uk/efo/EFO_0005426 node PATO_0000470 increased amount null http://purl.obolibrary.org/obo/PATO_0000470 node CL_0000202 auditory hair cell In mammals these cells are located in the organ of Corti. http://purl.obolibrary.org/obo/CL_0000202 node Orphanet_977 Adrenomyodystrophy null http://www.orpha.net/ORDO/Orphanet_977 node HP_0040269 Blocked Eustachian tube null http://purl.obolibrary.org/obo/HP_0040269 node CHEBI_74103 CE(22:6) null http://purl.obolibrary.org/obo/CHEBI_74103 node EFO_0005900 auxin null http://www.ebi.ac.uk/efo/EFO_0005900 node Orphanet_287 Ehlers-Danlos syndrome, classic type null http://www.orpha.net/ORDO/Orphanet_287 node GO_0044425 membrane part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0044425 node NCBITaxon_1582 Lactobacillus casei null http://purl.obolibrary.org/obo/NCBITaxon_1582 node MONDO_0100035 structural epilepsy null http://purl.obolibrary.org/obo/MONDO_0100035 node EFO_1001393 Periodontal Pocket null http://www.ebi.ac.uk/efo/EFO_1001393 node EFO_1000466 Penile Fibromatosis null http://www.ebi.ac.uk/efo/EFO_1000466 node CHEBI_53181 pristane null http://purl.obolibrary.org/obo/CHEBI_53181 node EFO_1002011 adult onset asthma null http://www.ebi.ac.uk/efo/EFO_1002011 node GO_0044238 primary metabolic process null http://purl.obolibrary.org/obo/GO_0044238 node EFO_0005033 RIP null http://www.ebi.ac.uk/efo/EFO_0005033 node EFO_0009846 muscle cramp null http://www.ebi.ac.uk/efo/EFO_0009846 node CLO_0016450 GM17850 null http://purl.obolibrary.org/obo/CLO_0016450 node NCBITaxon_115981 Salmonella enterica subsp. enterica serovar Montevideo null http://purl.obolibrary.org/obo/NCBITaxon_115981 node HP_0002576 Intussusception Intussusception can lead to intestinal obstruction as well as to the interruption of the blood supply to the intestine. It can affect small or large bowel. http://purl.obolibrary.org/obo/HP_0002576 node CHEBI_64144 1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine maleate null http://purl.obolibrary.org/obo/CHEBI_64144 node CL_0001030 CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor Originally described in the dendritic cell ontology (DC_CL:1111100)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001030 node BTO_0001967 cervical cancer cell line null http://purl.obolibrary.org/obo/BTO_0001967 node UBERON_0000160 intestine null http://purl.obolibrary.org/obo/UBERON_0000160 node BTO_0000488 lower epidermis null http://purl.obolibrary.org/obo/BTO_0000488 node CHEBI_86980 diacylglycerol 36:1 null http://purl.obolibrary.org/obo/CHEBI_86980 node EFO_0009425 Yersinia pestis infectious disease null http://www.ebi.ac.uk/efo/EFO_0009425 node EFO_0007479 screw worm infectious disease null http://www.ebi.ac.uk/efo/EFO_0007479 node MONDO_0002405 hepatic vascular disease null http://purl.obolibrary.org/obo/MONDO_0002405 node EFO_0001782 obsolete_family history design null http://www.ebi.ac.uk/efo/EFO_0001782 node Orphanet_217346 19q13.11 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_217346 node NCBITaxon_291331 Xanthomonas oryzae pv. oryzae KACC10331 null http://purl.obolibrary.org/obo/NCBITaxon_291331 node MONDO_0001434 inflammatory spondylopathy null http://purl.obolibrary.org/obo/MONDO_0001434 node EFO_0009729 surgery on leg artery null http://www.ebi.ac.uk/efo/EFO_0009729 node Orphanet_329308 Fatty acid hydroxylase-associated neurodegeneration null http://www.orpha.net/ORDO/Orphanet_329308 node MONDO_0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies null http://purl.obolibrary.org/obo/MONDO_0044319 node CHEBI_64045 amisulpride null http://purl.obolibrary.org/obo/CHEBI_64045 node EFO_0009513 multiple bone fractures null http://www.ebi.ac.uk/efo/EFO_0009513 node UBERON_0009881 anterior lateral plate mesoderm null http://purl.obolibrary.org/obo/UBERON_0009881 node EFO_1001857 Takayasu arteritis null http://www.ebi.ac.uk/efo/EFO_1001857 node MONDO_0003215 apocrine sweat gland cancer null http://purl.obolibrary.org/obo/MONDO_0003215 node Orphanet_2215 Malignant hyperthermia - arthrogryposis - torticollis null http://www.orpha.net/ORDO/Orphanet_2215 node HP_0000316 Hypertelorism null http://purl.obolibrary.org/obo/HP_0000316 node UBERON_0002390 hematopoietic system null http://purl.obolibrary.org/obo/UBERON_0002390 node PO_0025615 rosette null http://purl.obolibrary.org/obo/PO_0025615 node NCBITaxon_63417 Trichophyton verrucosum null http://purl.obolibrary.org/obo/NCBITaxon_63417 node EFO_0010298 corpus callosum posterior volume measurement null http://www.ebi.ac.uk/efo/EFO_0010298 node EFO_0004192 alopecia areata null http://www.ebi.ac.uk/efo/EFO_0004192 node EFO_0010779 CXCL11 measurement null http://www.ebi.ac.uk/efo/EFO_0010779 node EFO_0008095 complement decay-accelerating factor measurement null http://www.ebi.ac.uk/efo/EFO_0008095 node EFO_1001464 glial brain cell null http://www.ebi.ac.uk/efo/EFO_1001464 node NCBITaxon_79692 Human respiratory syncytial virus B1 null http://purl.obolibrary.org/obo/NCBITaxon_79692 node EFO_0003651 obsolete_gonad primordium null http://www.ebi.ac.uk/efo/EFO_0003651 node EFO_1001945 childhood acute myeloid leukemia with maturation null http://www.ebi.ac.uk/efo/EFO_1001945 node Orphanet_93562 Familial renal amyloidosis due to fibrinogen A alpha-chain variant null http://www.orpha.net/ORDO/Orphanet_93562 node MONDO_0032911 deafness, autosomal dominant 75 null http://purl.obolibrary.org/obo/MONDO_0032911 node EFO_1001768 cadmium poisoning null http://www.ebi.ac.uk/efo/EFO_1001768 node EFO_1000289 Hemangiopericytic Neoplasm Editor note: TODO check relationship to spindle cell tumor http://www.ebi.ac.uk/efo/EFO_1000289 node EFO_0000397 dermal neurofibroma null http://www.ebi.ac.uk/efo/EFO_0000397 node CL_0000898 naive T cell null http://purl.obolibrary.org/obo/CL_0000898 node HP_0003808 Abnormal muscle tone null http://purl.obolibrary.org/obo/HP_0003808 node EFO_0000416 dorsal ectoderm primordium null http://www.ebi.ac.uk/efo/EFO_0000416 node Orphanet_255229 Navajo neurohepatopathy null http://www.orpha.net/ORDO/Orphanet_255229 node EFO_1001078 orchitis null http://www.ebi.ac.uk/efo/EFO_1001078 node EFO_0001379 endocrine system disease null http://www.ebi.ac.uk/efo/EFO_0001379 node EFO_0010386 phosphatidylcholine 38:4 measurement null http://www.ebi.ac.uk/efo/EFO_0010386 node Orphanet_168448 Spondyloepimetaphyseal dysplasia, Bieganski type null http://www.orpha.net/ORDO/Orphanet_168448 node Orphanet_166035 Metaphyseal chondrodysplasia - retinitis pigmentosa null http://www.orpha.net/ORDO/Orphanet_166035 node EFO_0000795 animal developmental tissue null http://www.ebi.ac.uk/efo/EFO_0000795 node UBERON_0001211 Peyer's patch null http://purl.obolibrary.org/obo/UBERON_0001211 node CL_0000097 mast cell Mast cells are generally integrin beta-7-negative and positive for TLR2, TLR3, TLR4, TLR5, TLR7, TLR9, C3aR, C5aR, CR3, CR4, VEGF, FGF2, and renin. They can express MHC Class I and II on their surface. Activated murine mast cells (IgE+Antigen) were capable of expressing the following co-stimulatory molecules: CD95 (Fas), CD120b, CD137 (4-1BB), CD153 (CD30L), CD154 (CD40L), GITR, ICOSL, OX40L, PD-L1, and PD-L2. Note that there was some mouse strain variation. Mast cells have also been demonstrated to produce bFGF, CCL2, CCL4, CCL5, CCL11, CCL20, CXCL2, CXCL8, CXCL10, GM-CSF, IFN-gamma, IL-1, IL-2, IL-3, IL-8, IL-10, IL-11, IL-12, IL-13, IL-16, IL-25, IL-18, MIP-1, prostaglandin D2, SCF, TGF-beta, TNF-alpha, TSLP, VEGF, and XCL1. They express the transcription factors Transcription factors AP-1, GATA1, MITF, Notch2, PIAS3, PU.1, and STAT5. http://purl.obolibrary.org/obo/CL_0000097 node NCBITaxon_65071 Pythium ultimum null http://purl.obolibrary.org/obo/NCBITaxon_65071 node UBERON_0005585 rhombomere 7 floor plate null http://purl.obolibrary.org/obo/UBERON_0005585 node CL_0000986 IgM plasma cell null http://purl.obolibrary.org/obo/CL_0000986 node EFO_0000504 gastric intestinal type adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0000504 node GO_1901360 organic cyclic compound metabolic process null http://purl.obolibrary.org/obo/GO_1901360 node EFO_0002309 OE21 null http://www.ebi.ac.uk/efo/EFO_0002309 node EFO_0003821 migraine disorder null http://www.ebi.ac.uk/efo/EFO_0003821 node NCBITaxon_454631 Rhamphochromis sp. 'chilingali' null http://purl.obolibrary.org/obo/NCBITaxon_454631 node EFO_1000612 Usual Ductal Breast Hyperplasia null http://www.ebi.ac.uk/efo/EFO_1000612 node CL_0000770 band form basophil null http://purl.obolibrary.org/obo/CL_0000770 node MONDO_0034217 resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta null http://purl.obolibrary.org/obo/MONDO_0034217 node UBERON_2000419 pterosphenoid null http://purl.obolibrary.org/obo/UBERON_2000419 node EFO_0003938 aphthous ulcer null http://www.ebi.ac.uk/efo/EFO_0003938 node Orphanet_118 Beta-mannosidosis null http://www.orpha.net/ORDO/Orphanet_118 node Orphanet_1187 Lethal ataxia with deafness and optic atrophy null http://www.orpha.net/ORDO/Orphanet_1187 node EFO_1000700 fibroepithelial polyp of urethra null http://www.ebi.ac.uk/efo/EFO_1000700 node CL_0002551 fibroblast of dermis null http://purl.obolibrary.org/obo/CL_0002551 node EFO_0003722 obsolete_kidney (Bos taurus) null http://www.ebi.ac.uk/efo/EFO_0003722 node CL_0000653 glomerular visceral epithelial cell GO has podocyte as a related synonym due to concern this may refer to more than one cell type. However, this did not turn up in my search. If podocyte does refer to more than one cell type, then we should classify the synonym to 'related'[tfm]. http://purl.obolibrary.org/obo/CL_0000653 node PO_0009066 anther Generally consists of four pollen sacs (microsporangia) in two anther thecas. If you are annotating to anther or one of its parts for Zea mays or other grasses, please also add an annotation to the corresponding floret type. Choose the most specific term possible from: spikelet floret (PO:0009082), tassel floret (PO:0006310), lower floret of pedicellate spikelet of tassel (PO:0006313), lower floret of sessile spikelet of tassel (PO:0006315), upper floret of pedicellate spikelet of tassel (PO:0006314), upper floret of sessile spikelet of tassel (PO:0006316). http://purl.obolibrary.org/obo/PO_0009066 node EFO_0006391 dopaminergic neuroblastoma null http://www.ebi.ac.uk/efo/EFO_0006391 node Orphanet_178509 Perry syndrome null http://www.orpha.net/ORDO/Orphanet_178509 node Orphanet_156252 Tracheal anomaly null http://www.orpha.net/ORDO/Orphanet_156252 node EFO_0007668 tragus size null http://www.ebi.ac.uk/efo/EFO_0007668 node MONDO_0020014 rare disease with odontological manifestation null http://purl.obolibrary.org/obo/MONDO_0020014 node CL_0002054 Fraction E immature B cell Markers associated with mouse cells. These cells are also reportedly sIgD-negative. http://purl.obolibrary.org/obo/CL_0002054 node CHEBI_27504 mitomycin C null http://purl.obolibrary.org/obo/CHEBI_27504 node UBERON_0002005 enteric nervous system null http://purl.obolibrary.org/obo/UBERON_0002005 node Orphanet_2252 Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema null http://www.orpha.net/ORDO/Orphanet_2252 node EFO_0005290 Brown Norway null http://www.ebi.ac.uk/efo/EFO_0005290 node HP_0000486 Strabismus null http://purl.obolibrary.org/obo/HP_0000486 node EFO_0007949 acute-on-chronic liver failure null http://www.ebi.ac.uk/efo/EFO_0007949 node CL_0002617 adipocyte of breast Adipocytes found in the subcutaneous adipose tissue of breast. The breast consists of three main components, the skin, the subcutaneous adipose tissue and the functional glandular tissue that comprises both parenchyma and stroma.[CALOHA] http://purl.obolibrary.org/obo/CL_0002617 node MONDO_0100142 severe COVID-19 infection null http://purl.obolibrary.org/obo/MONDO_0100142 node MONDO_0003783 lymphopenia (disease) null http://purl.obolibrary.org/obo/MONDO_0003783 node MONDO_0021232 pineal body neoplasm null http://purl.obolibrary.org/obo/MONDO_0021232 node MONDO_0007254 breast cancer null http://purl.obolibrary.org/obo/MONDO_0007254 node EFO_0007335 Kluver-Bucy syndrome null http://www.ebi.ac.uk/efo/EFO_0007335 node NCBITaxon_13894 Cocos nucifera null http://purl.obolibrary.org/obo/NCBITaxon_13894 node EFO_0002888 Homo sapiens cell line null http://www.ebi.ac.uk/efo/EFO_0002888 node EFO_0006512 angiographic measurement null http://www.ebi.ac.uk/efo/EFO_0006512 node EFO_0005919 recombination measurement null http://www.ebi.ac.uk/efo/EFO_0005919 node MONDO_0019962 thyroid lymphoma null http://purl.obolibrary.org/obo/MONDO_0019962 node EFO_0006335 systolic blood pressure null http://www.ebi.ac.uk/efo/EFO_0006335 node CHEBI_88494 Epsilon-(gamma-Glutamyl)-lysine null http://purl.obolibrary.org/obo/CHEBI_88494 node UBERON_0006599 presumptive hypochord null http://purl.obolibrary.org/obo/UBERON_0006599 node Orphanet_293375 Grayson-Wilbrandt corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_293375 node HP_0030956 Abnormality of cardiovascular system electrophysiology null http://purl.obolibrary.org/obo/HP_0030956 node HP_0000093 Proteinuria null http://purl.obolibrary.org/obo/HP_0000093 node Orphanet_352641 Autosomal recessive cerebellar ataxia with late-onset spasticity null http://www.orpha.net/ORDO/Orphanet_352641 node Orphanet_2585 Ataxia - pancytopenia null http://www.orpha.net/ORDO/Orphanet_2585 node EFO_0008964 TC-Seq null http://www.ebi.ac.uk/efo/EFO_0008964 node MONDO_0007342 clubfoot null http://purl.obolibrary.org/obo/MONDO_0007342 node EFO_0000984 obsolete_testis null http://www.ebi.ac.uk/efo/EFO_0000984 node EFO_0002976 ILSXISS16/TejJ null http://www.ebi.ac.uk/efo/EFO_0002976 node EFO_0006600 JHH-2 null http://www.ebi.ac.uk/efo/EFO_0006600 node CHEBI_32918 1-naphthylacetic acid null http://purl.obolibrary.org/obo/CHEBI_32918 node Orphanet_309297 Mucopolysaccharidosis type 4A null http://www.orpha.net/ORDO/Orphanet_309297 node Orphanet_98261 Progressive myoclonic epilepsy null http://www.orpha.net/ORDO/Orphanet_98261 node HP_0005465 Facial hyperostosis null http://purl.obolibrary.org/obo/HP_0005465 node EFO_0006423 HCC1162 null http://www.ebi.ac.uk/efo/EFO_0006423 node HP_0001583 Rotary nystagmus null http://purl.obolibrary.org/obo/HP_0001583 node EFO_0009593 mood change measurement null http://www.ebi.ac.uk/efo/EFO_0009593 node HP_0030839 Knee pain null http://purl.obolibrary.org/obo/HP_0030839 node NCBITaxon_1584 Lactobacillus delbrueckii null http://purl.obolibrary.org/obo/NCBITaxon_1584 node MONDO_0002450 prostatic adenoma null http://purl.obolibrary.org/obo/MONDO_0002450 node Orphanet_2673 Neurofaciodigitorenal syndrome null http://www.orpha.net/ORDO/Orphanet_2673 node EFO_0009991 Nuc-Seq null http://www.ebi.ac.uk/efo/EFO_0009991 node EFO_0009204 Corpuscular Hemoglobin Concentration Distribution Width null http://www.ebi.ac.uk/efo/EFO_0009204 node CHEBI_62423 (2-hydroxyphenyl)acetate null http://purl.obolibrary.org/obo/CHEBI_62423 node EFO_0000867 obsolete_meninges null http://www.ebi.ac.uk/efo/EFO_0000867 node NCBITaxon_27706 Micropterus salmoides null http://purl.obolibrary.org/obo/NCBITaxon_27706 node EFO_0007450 poliomyelitis null http://www.ebi.ac.uk/efo/EFO_0007450 node HP_0001671 Abnormal cardiac septum morphology null http://purl.obolibrary.org/obo/HP_0001671 node Orphanet_320355 Autosomal dominant spastic paraplegia type 41 null http://www.orpha.net/ORDO/Orphanet_320355 node Orphanet_79324 ALG12-CDG null http://www.orpha.net/ORDO/Orphanet_79324 node EFO_0002160 DG75 null http://www.ebi.ac.uk/efo/EFO_0002160 node EFO_0009010 HSV2 virologic severity measurement null http://www.ebi.ac.uk/efo/EFO_0009010 node MONDO_0002407 capillary hemangioma null http://purl.obolibrary.org/obo/MONDO_0002407 node EFO_0000651 phenotype null http://www.ebi.ac.uk/efo/EFO_0000651 node EFO_1001342 Helminthiasis Editor note: this is a vague grouping and does not correspond to any one taxon http://www.ebi.ac.uk/efo/EFO_1001342 node EFO_0005772 neurodegenerative disease Editor notes: DO treats this as two diseases http://www.ebi.ac.uk/efo/EFO_0005772 node EFO_0001058 sensory system disease null http://www.ebi.ac.uk/efo/EFO_0001058 node EFO_0000474 epilepsy null http://www.ebi.ac.uk/efo/EFO_0000474 node EFO_0001643 kidney derived cell line null http://www.ebi.ac.uk/efo/EFO_0001643 node EFO_0004845 magnesium measurement null http://www.ebi.ac.uk/efo/EFO_0004845 node Orphanet_370103 Primary dystonia, DYT17 type null http://www.orpha.net/ORDO/Orphanet_370103 node EFO_0000955 obsolete_feather null http://www.ebi.ac.uk/efo/EFO_0000955 node EFO_1001155 retinal drusen null http://www.ebi.ac.uk/efo/EFO_1001155 node Orphanet_1376 Congenital cataract - ichthyosis null http://www.orpha.net/ORDO/Orphanet_1376 node MONDO_0002679 cerebral infarction null http://purl.obolibrary.org/obo/MONDO_0002679 node EFO_0005585 shigellosis null http://www.ebi.ac.uk/efo/EFO_0005585 node EFO_0001947 obsolete_shoot apex null http://www.ebi.ac.uk/efo/EFO_0001947 node Orphanet_93262 Crouzon syndrome - acanthosis nigricans null http://www.orpha.net/ORDO/Orphanet_93262 node EFO_0008260 plasma kallikrein measurement null http://www.ebi.ac.uk/efo/EFO_0008260 node MONDO_0033551 immunodeficiency 72 with autoinflammation null http://purl.obolibrary.org/obo/MONDO_0033551 node EFO_0008129 fibroblast growth factor 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008129 node CL_0000842 mononuclear cell null http://purl.obolibrary.org/obo/CL_0000842 node EFO_0004587 lymphocyte count null http://www.ebi.ac.uk/efo/EFO_0004587 node Orphanet_3134 SCARF syndrome null http://www.orpha.net/ORDO/Orphanet_3134 node MONDO_0009453 immune deficiency disease null http://purl.obolibrary.org/obo/MONDO_0009453 node EFO_0000280 Barrett's esophagus null http://www.ebi.ac.uk/efo/EFO_0000280 node EFO_0010077 response to belimumab null http://www.ebi.ac.uk/efo/EFO_0010077 node EFO_0003044 NCI-H460 null http://www.ebi.ac.uk/efo/EFO_0003044 node EFO_0002117 BM1604 null http://www.ebi.ac.uk/efo/EFO_0002117 node HP_0010753 Midline defect of mandible null http://purl.obolibrary.org/obo/HP_0010753 node Orphanet_90117 Hereditary motor and sensory neuropathy, Okinawa type null http://www.orpha.net/ORDO/Orphanet_90117 node Orphanet_295191 Zygodactyly type 3 null http://www.orpha.net/ORDO/Orphanet_295191 node EFO_0001146 GM12249 null http://www.ebi.ac.uk/efo/EFO_0001146 node EFO_0001731 consortium member null http://www.ebi.ac.uk/efo/EFO_0001731 node EFO_0000562 labelling null http://www.ebi.ac.uk/efo/EFO_0000562 node EFO_1000420 Ovarian Gonadoblastoma null http://www.ebi.ac.uk/efo/EFO_1000420 node EFO_0010475 deoxycholate measurement null http://www.ebi.ac.uk/efo/EFO_0010475 node EFO_1001243 wheat allergic reaction null http://www.ebi.ac.uk/efo/EFO_1001243 node EFO_0005673 chronic mucus hypersecretion null http://www.ebi.ac.uk/efo/EFO_0005673 node EFO_0002471 obsolete_posterior cingulate cortex null http://www.ebi.ac.uk/efo/EFO_0002471 node EFO_0004746 lipoprotein-associated phospholipase A(2) measurement null http://www.ebi.ac.uk/efo/EFO_0004746 node EFO_0008217 macrophage colony stimulating factor measurement null http://www.ebi.ac.uk/efo/EFO_0008217 node Orphanet_100997 X-linked spastic paraplegia type 16 null http://www.orpha.net/ORDO/Orphanet_100997 node EFO_0003104 adrenocortical adenoma null http://www.ebi.ac.uk/efo/EFO_0003104 node Orphanet_95428 COG8-CDG null http://www.orpha.net/ORDO/Orphanet_95428 node Orphanet_91132 Ichthyosis-hypotrichosis syndrome null http://www.orpha.net/ORDO/Orphanet_91132 node Orphanet_83330 Proximal spinal muscular atrophy type 1 null http://www.orpha.net/ORDO/Orphanet_83330 node Orphanet_101104 Marin-Amat syndrome null http://www.orpha.net/ORDO/Orphanet_101104 node UBERON_0002368 endocrine gland null http://purl.obolibrary.org/obo/UBERON_0002368 node CLO_0014344 GM17232 null http://purl.obolibrary.org/obo/CLO_0014344 node UBERON_0000010 peripheral nervous system null http://purl.obolibrary.org/obo/UBERON_0000010 node GO_0070527 platelet aggregation null http://purl.obolibrary.org/obo/GO_0070527 node EFO_0010563 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies null http://www.ebi.ac.uk/efo/EFO_0010563 node CHEBI_70811 N-(indol-3-ylacetyl)glutamine null http://purl.obolibrary.org/obo/CHEBI_70811 node EFO_0010400 triacylglycerol 46:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010400 node EFO_0010247 incident null http://www.ebi.ac.uk/efo/EFO_0010247 node EFO_0004141 obsolete_perineum null http://www.ebi.ac.uk/efo/EFO_0004141 node EFO_0010728 curettage null http://www.ebi.ac.uk/efo/EFO_0010728 node Orphanet_137631 Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis null http://www.orpha.net/ORDO/Orphanet_137631 node UBERON_0014907 intersomitic vessel null http://purl.obolibrary.org/obo/UBERON_0014907 node Orphanet_51188 Ethylmalonic encephalopathy null http://www.orpha.net/ORDO/Orphanet_51188 node EFO_0003600 obsolete_slow muscle cell somite 7 null http://www.ebi.ac.uk/efo/EFO_0003600 node MONDO_0000709 Crohn ileitis null http://purl.obolibrary.org/obo/MONDO_0000709 node EFO_0010651 intellectual developmental disorder with impaired language and dysmorphic facies null http://www.ebi.ac.uk/efo/EFO_0010651 node EFO_0004340 body mass index null http://www.ebi.ac.uk/efo/EFO_0004340 node CLO_0016648 GM17769 null http://purl.obolibrary.org/obo/CLO_0016648 node EFO_0003413 obsolete_lateral cord neuron null http://www.ebi.ac.uk/efo/EFO_0003413 node CHEBI_30839 orotate null http://purl.obolibrary.org/obo/CHEBI_30839 node Orphanet_14 Abetalipoproteinemia null http://www.orpha.net/ORDO/Orphanet_14 node NCBITaxon_87883 Burkholderia multivorans null http://purl.obolibrary.org/obo/NCBITaxon_87883 node Orphanet_53351 X-linked dystonia-parkinsonism null http://www.orpha.net/ORDO/Orphanet_53351 node EFO_0010335 third ventricle volume measurement null http://www.ebi.ac.uk/efo/EFO_0010335 node NCBITaxon_4932 Saccharomyces cerevisiae null http://purl.obolibrary.org/obo/NCBITaxon_4932 node CHEBI_15560 (15Z)-12-oxophyto-10,15-dienoic acid null http://purl.obolibrary.org/obo/CHEBI_15560 node MONDO_0011679 craniosynostosis syndrome, autosomal recessive null http://purl.obolibrary.org/obo/MONDO_0011679 node EFO_0010148 pepsinogen-I measurement null http://www.ebi.ac.uk/efo/EFO_0010148 node CL_0002459 langerin-negative dermal dendritic cell null http://purl.obolibrary.org/obo/CL_0002459 node EFO_0004042 AB1 null http://www.ebi.ac.uk/efo/EFO_0004042 node EFO_0010629 pro‐interleukin‐16 measurement null http://www.ebi.ac.uk/efo/EFO_0010629 node GO_0046128 purine ribonucleoside metabolic process null http://purl.obolibrary.org/obo/GO_0046128 node EFO_0006786 EKVX null http://www.ebi.ac.uk/efo/EFO_0006786 node EFO_0007833 C3H/HeOuJ null http://www.ebi.ac.uk/efo/EFO_0007833 node EFO_0006906 virologic response measurement null http://www.ebi.ac.uk/efo/EFO_0006906 node EFO_0003501 obsolete_tectal ventricle null http://www.ebi.ac.uk/efo/EFO_0003501 node MONDO_0003916 overnutrition null http://purl.obolibrary.org/obo/MONDO_0003916 node CHEBI_61204 docosapentaenoic acid null http://purl.obolibrary.org/obo/CHEBI_61204 node GO_1904058 positive regulation of sensory perception of pain null http://purl.obolibrary.org/obo/GO_1904058 node NCBITaxon_10090 Mus musculus null http://purl.obolibrary.org/obo/NCBITaxon_10090 node HP_0003287 Abnormality of mitochondrial metabolism null http://purl.obolibrary.org/obo/HP_0003287 node MONDO_0021110 sweat gland adenoma null http://purl.obolibrary.org/obo/MONDO_0021110 node UBERON_0000927 mesectoderm Split term? The part of the mesenchyme derived from ectoderm, especially from the embryonic neural crest from which the pigment cells, meninges, and most of the branchial cartilages develop.[TFD] http://purl.obolibrary.org/obo/UBERON_0000927 node MONDO_0018452 deficiency of the interleukin-36 receptor antagonist null http://purl.obolibrary.org/obo/MONDO_0018452 node Orphanet_2024 Hereditary gingival fibromatosis null http://www.orpha.net/ORDO/Orphanet_2024 node EFO_0006874 antisaccade response measurement null http://www.ebi.ac.uk/efo/EFO_0006874 node UBERON_2000475 paraventricular organ null http://purl.obolibrary.org/obo/UBERON_2000475 node EFO_0007026 YEPG null http://www.ebi.ac.uk/efo/EFO_0007026 node CHEBI_17084 2-hydroxyglutaric acid null http://purl.obolibrary.org/obo/CHEBI_17084 node NCBITaxon_7159 Aedes aegypti null http://purl.obolibrary.org/obo/NCBITaxon_7159 node Orphanet_216986 Niemann-Pick disease type C, adult neurologic onset null http://www.orpha.net/ORDO/Orphanet_216986 node NCBITaxon_305 Ralstonia solanacearum null http://purl.obolibrary.org/obo/NCBITaxon_305 node PO_0009015 vascular tissue null http://purl.obolibrary.org/obo/PO_0009015 node EFO_0008697 cP-RNA-Seq null http://www.ebi.ac.uk/efo/EFO_0008697 node Orphanet_141333 Biemond syndrome type 2 Editor note: see also type 1, e.g. GARD:0000881 http://www.orpha.net/ORDO/Orphanet_141333 node EFO_0003594 obsolete_pectoral fin skeleton null http://www.ebi.ac.uk/efo/EFO_0003594 node Orphanet_2750 Orofaciodigital syndrome type 1 null http://www.orpha.net/ORDO/Orphanet_2750 node CLO_0031666 GM14582 null http://purl.obolibrary.org/obo/CLO_0031666 node EFO_0001920 obsolete_entorhinal cortex null http://www.ebi.ac.uk/efo/EFO_0001920 node Orphanet_90695 Panhypopituitarism null http://www.orpha.net/ORDO/Orphanet_90695 node Orphanet_217591 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_217591 node HP_0000347 Micrognathia Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. http://purl.obolibrary.org/obo/HP_0000347 node CL_0002003 CD34-positive, GlyA-negative erythroid progenitor cell Cell markers associated with human cells. http://purl.obolibrary.org/obo/CL_0002003 node Orphanet_3206 Stüve-Wiedemann syndrome null http://www.orpha.net/ORDO/Orphanet_3206 node Orphanet_268832 Lipoma associated with neurospinal dysraphism null http://www.orpha.net/ORDO/Orphanet_268832 node CHEBI_16668 hypotaurine null http://purl.obolibrary.org/obo/CHEBI_16668 node Orphanet_294927 Intercalary limb defects null http://www.orpha.net/ORDO/Orphanet_294927 node GO_0009941 chloroplast envelope null http://purl.obolibrary.org/obo/GO_0009941 node EFO_0008622 female genital tract polyp null http://www.ebi.ac.uk/efo/EFO_0008622 node EFO_0003495 obsolete_mandibular lateral line neuromast null http://www.ebi.ac.uk/efo/EFO_0003495 node EFO_0007141 allergic conjunctivitis null http://www.ebi.ac.uk/efo/EFO_0007141 node Orphanet_950 Acrodysostosis null http://www.orpha.net/ORDO/Orphanet_950 node Orphanet_88643 Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay null http://www.orpha.net/ORDO/Orphanet_88643 node HP_0001760 Abnormal foot morphology A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. http://purl.obolibrary.org/obo/HP_0001760 node Orphanet_90001 X-linked cone dysfunction syndrome with myopia null http://www.orpha.net/ORDO/Orphanet_90001 node Orphanet_564 Meckel syndrome null http://www.orpha.net/ORDO/Orphanet_564 node EFO_0008668 CAB-Seq null http://www.ebi.ac.uk/efo/EFO_0008668 node Orphanet_216812 Osteogenesis imperfecta type 3 null http://www.orpha.net/ORDO/Orphanet_216812 node Orphanet_377 Gorlin syndrome null http://www.orpha.net/ORDO/Orphanet_377 node CHEBI_32063 propylparaben null http://purl.obolibrary.org/obo/CHEBI_32063 node HP_0100716 Self-injurious behavior null http://purl.obolibrary.org/obo/HP_0100716 node CHEBI_17771 trans-urocanate null http://purl.obolibrary.org/obo/CHEBI_17771 node EFO_1000825 atrial heart septal defect null http://www.ebi.ac.uk/efo/EFO_1000825 node NCBITaxon_45954 Dreissena polymorpha null http://purl.obolibrary.org/obo/NCBITaxon_45954 node MONDO_0003081 thalamic disease null http://purl.obolibrary.org/obo/MONDO_0003081 node EFO_0001422 cirrhosis of liver null http://www.ebi.ac.uk/efo/EFO_0001422 node CLO_0013193 GM17274 null http://purl.obolibrary.org/obo/CLO_0013193 node EFO_0009702 intra-individual reaction time variability measurement null http://www.ebi.ac.uk/efo/EFO_0009702 node NCBITaxon_45264 Acropora millepora null http://purl.obolibrary.org/obo/NCBITaxon_45264 node EFO_0002162 DMS114 null http://www.ebi.ac.uk/efo/EFO_0002162 node EFO_0005388 JIMT-1 null http://www.ebi.ac.uk/efo/EFO_0005388 node GO_0046883 regulation of hormone secretion null http://purl.obolibrary.org/obo/GO_0046883 node Orphanet_168778 Rare pervasive developmental disorder null http://www.orpha.net/ORDO/Orphanet_168778 node NCBITaxon_3880 Medicago truncatula null http://purl.obolibrary.org/obo/NCBITaxon_3880 node Orphanet_2435 Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability null http://www.orpha.net/ORDO/Orphanet_2435 node CLO_0031609 GM14509 null http://purl.obolibrary.org/obo/CLO_0031609 node EFO_1000328 Low Grade Fibromyxoid Sarcoma null http://www.ebi.ac.uk/efo/EFO_1000328 node EFO_1000913 ehrlich tumor carcinoma null http://www.ebi.ac.uk/efo/EFO_1000913 node UBERON_2001431 primitive olfactory epithelium null http://purl.obolibrary.org/obo/UBERON_2001431 node Orphanet_85193 Idiopathic juvenile osteoporosis null http://www.orpha.net/ORDO/Orphanet_85193 node EFO_0002250 NCI-H1155 null http://www.ebi.ac.uk/efo/EFO_0002250 node EFO_0001323 obsolete_fetus null http://www.ebi.ac.uk/efo/EFO_0001323 node CHEBI_32387 alpha-linolenate null http://purl.obolibrary.org/obo/CHEBI_32387 node Orphanet_169793 Severe hemophilia B null http://www.orpha.net/ORDO/Orphanet_169793 node EFO_0005289 mural granulosa cell null http://www.ebi.ac.uk/efo/EFO_0005289 node OBI_0000066 investigation null http://purl.obolibrary.org/obo/OBI_0000066 node EFO_0004289 lymphoid leukemia null http://www.ebi.ac.uk/efo/EFO_0004289 node Orphanet_1325 Camptodactyly - taurinuria null http://www.orpha.net/ORDO/Orphanet_1325 node MONDO_0000988 discharging ear null http://purl.obolibrary.org/obo/MONDO_0000988 node OBI_0400104 array scanner null http://purl.obolibrary.org/obo/OBI_0400104 node Orphanet_99103 Atrial septal defect, ostium secundum type null http://www.orpha.net/ORDO/Orphanet_99103 node EFO_0000370 chemically induced mutation null http://www.ebi.ac.uk/efo/EFO_0000370 node EFO_1001051 mycosis fungoides null http://www.ebi.ac.uk/efo/EFO_1001051 node CHEBI_45826 N-acetyl-L-threonine null http://purl.obolibrary.org/obo/CHEBI_45826 node HP_0011017 Abnormal cellular physiology null http://purl.obolibrary.org/obo/HP_0011017 node NCBITaxon_79017 Rana pirica null http://purl.obolibrary.org/obo/NCBITaxon_79017 node Orphanet_93328 Autosomal dominant omodysplasia null http://www.orpha.net/ORDO/Orphanet_93328 node Orphanet_254930 Combined oxidative phosphorylation defect type 7 null http://www.orpha.net/ORDO/Orphanet_254930 node EFO_0005804 polycythemia null http://www.ebi.ac.uk/efo/EFO_0005804 node CHEBI_133792 erythronate null http://purl.obolibrary.org/obo/CHEBI_133792 node UBERON_0016552 phlegm null http://purl.obolibrary.org/obo/UBERON_0016552 node CHEBI_73026 2-methylbutyrylcarnitine null http://purl.obolibrary.org/obo/CHEBI_73026 node EFO_0004143 carpal tunnel syndrome null http://www.ebi.ac.uk/efo/EFO_0004143 node Orphanet_1226 Bamforth-Lazarus syndrome null http://www.orpha.net/ORDO/Orphanet_1226 node Orphanet_1811 Odontomicronychial dysplasia null http://www.orpha.net/ORDO/Orphanet_1811 node Orphanet_3293 Telecanthus - hypertelorism - strabismus - pes cavus null http://www.orpha.net/ORDO/Orphanet_3293 node CL_0000211 electrically active cell null http://purl.obolibrary.org/obo/CL_0000211 node EFO_0008769 HT-SELEX null http://www.ebi.ac.uk/efo/EFO_0008769 node Orphanet_206443 Late-infantile/juvenile Krabbe disease null http://www.orpha.net/ORDO/Orphanet_206443 node Orphanet_156249 Larynx anomaly null http://www.orpha.net/ORDO/Orphanet_156249 node CL_0000515 skeletal muscle myoblast null http://purl.obolibrary.org/obo/CL_0000515 node HP_0012430 Cerebral white matter hypoplasia null http://purl.obolibrary.org/obo/HP_0012430 node Orphanet_397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome null http://www.orpha.net/ORDO/Orphanet_397618 node EFO_0004044 CB30 null http://www.ebi.ac.uk/efo/EFO_0004044 node MONDO_0037821 porphyrin metabolism disease null http://purl.obolibrary.org/obo/MONDO_0037821 node EFO_0008857 PDZ-Seq null http://www.ebi.ac.uk/efo/EFO_0008857 node GO_0043657 host cell null http://purl.obolibrary.org/obo/GO_0043657 node MONDO_0030028 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline null http://purl.obolibrary.org/obo/MONDO_0030028 node Orphanet_51084 Torsade-de-pointes syndrome with short coupling interval null http://www.orpha.net/ORDO/Orphanet_51084 node CHEBI_28001 vancomycin null http://purl.obolibrary.org/obo/CHEBI_28001 node Orphanet_98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature null http://www.orpha.net/ORDO/Orphanet_98357 node EFO_1000995 intradermal nevus null http://www.ebi.ac.uk/efo/EFO_1000995 node Orphanet_79129 Trichodysplasia - amelogenesis imperfecta null http://www.orpha.net/ORDO/Orphanet_79129 node EFO_0006509 Varicella Zoster infection null http://www.ebi.ac.uk/efo/EFO_0006509 node UBERON_0001875 globus pallidus BTO and MA are inconsistent w.r.t striatum and pallidum being non-overlapping as in ABA. Note that we have pallidum as part_of basal gangion, so we can make the direct link to basal ganglion. ISBN:1588900649 says: ... a derivative of the diencephalon, seperates as a result of growing fibers of theinternal capsule and is finally displaced into telencephalon. only a small medial remnannt remains, the entopeduncular nucleus. The globus pallidus should be regarded as part of the subthalamus http://purl.obolibrary.org/obo/UBERON_0001875 node CL_0002408 immature Vgamma2-negative thymocyte NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. http://purl.obolibrary.org/obo/CL_0002408 node HP_0007305 CNS demyelination CNS demyelination affects the white matter, which consists mostly of axons with their envelope of myelin, along with two types of neuroglia: oligo-dendrocytes and astrocytes. http://purl.obolibrary.org/obo/HP_0007305 node Orphanet_101351 Familial isolated congenital asplenia null http://www.orpha.net/ORDO/Orphanet_101351 node EFO_0002832 MKN45 null http://www.ebi.ac.uk/efo/EFO_0002832 node Orphanet_98578 Ptosis null http://www.orpha.net/ORDO/Orphanet_98578 node EFO_1001368 Mediastinal Cyst null http://www.ebi.ac.uk/efo/EFO_1001368 node HP_0000512 Abnormal electroretinogram The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG. http://purl.obolibrary.org/obo/HP_0000512 node EFO_1001849 staphylococcal skin infections null http://www.ebi.ac.uk/efo/EFO_1001849 node EFO_0009318 HFFc6 null http://www.ebi.ac.uk/efo/EFO_0009318 node EFO_0007524 trichuriasis null http://www.ebi.ac.uk/efo/EFO_0007524 node CHEBI_50739 estrogen receptor modulator null http://purl.obolibrary.org/obo/CHEBI_50739 node Orphanet_98258 Infantile epilepsy syndrome This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. http://www.orpha.net/ORDO/Orphanet_98258 node EFO_0001031 tiling path by array null http://www.ebi.ac.uk/efo/EFO_0001031 node MONDO_0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 null http://purl.obolibrary.org/obo/MONDO_0029133 node Orphanet_98666 Unclassified primitive or secondary maculopathy null http://www.orpha.net/ORDO/Orphanet_98666 node CHEBI_37887 adrenergic antagonist null http://purl.obolibrary.org/obo/CHEBI_37887 node MONDO_0002652 anus adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0002652 node EFO_1001456 central nervous system infection null http://www.ebi.ac.uk/efo/EFO_1001456 node EFO_0000588 mesothelioma null http://www.ebi.ac.uk/efo/EFO_0000588 node EFO_0004959 Clark level III null http://www.ebi.ac.uk/efo/EFO_0004959 node EFO_0009406 glucose metabolism disease null http://www.ebi.ac.uk/efo/EFO_0009406 node UBERON_0000002 uterine cervix null http://purl.obolibrary.org/obo/UBERON_0000002 node EFO_0007612 response to montelukast null http://www.ebi.ac.uk/efo/EFO_0007612 node MONDO_0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum null http://purl.obolibrary.org/obo/MONDO_0032903 node Orphanet_275523 Dianzani autoimmune lymphoproliferative disease null http://www.orpha.net/ORDO/Orphanet_275523 node EFO_0008374 liver amyloid deposition measurement null http://www.ebi.ac.uk/efo/EFO_0008374 node MONDO_0004641 skin carcinoma in situ null http://purl.obolibrary.org/obo/MONDO_0004641 node CHEBI_51086 chemical role null http://purl.obolibrary.org/obo/CHEBI_51086 node CHEBI_50159 canrenoate null http://purl.obolibrary.org/obo/CHEBI_50159 node CHEBI_89379 gamma-CEHC null http://purl.obolibrary.org/obo/CHEBI_89379 node EFO_0009163 woolly hair, autosomal recessive 2, with or without hypotrichosis null http://www.ebi.ac.uk/efo/EFO_0009163 node MONDO_0015818 aggressive primary cutaneous B-cell lymphoma null http://purl.obolibrary.org/obo/MONDO_0015818 node Orphanet_261781 Partial deletion of chromosome 4 null http://www.orpha.net/ORDO/Orphanet_261781 node MONDO_0043953 burkholderia infectious disease null http://purl.obolibrary.org/obo/MONDO_0043953 node EFO_0010594 Fms-related tyrosine kinase 3 ligand measurement null http://www.ebi.ac.uk/efo/EFO_0010594 node EFO_0005769 calcium metabolic disease Consider relocating this as a sibling of metabolic disease. http://www.ebi.ac.uk/efo/EFO_0005769 node MONDO_0009229 hyaline fibromatosis syndrome null http://purl.obolibrary.org/obo/MONDO_0009229 node CHEBI_6923 miconazole null http://purl.obolibrary.org/obo/CHEBI_6923 node CL_0000995 CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor Originally described in the dendritic cell ontology (DC_CL:1100000)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0000995 node Orphanet_261483 Xq27.3q28 duplication syndrome null http://www.orpha.net/ORDO/Orphanet_261483 node Orphanet_238666 Isolated congenital hypogonadotropic hypogonadism null http://www.orpha.net/ORDO/Orphanet_238666 node EFO_0003405 obsolete_embryonic proventriculus inner layer null http://www.ebi.ac.uk/efo/EFO_0003405 node EFO_0008462 pregnancy induced alloimmunization null http://www.ebi.ac.uk/efo/EFO_0008462 node EFO_0004145 myopathy Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition http://www.ebi.ac.uk/efo/EFO_0004145 node EFO_1000604 Undifferentiated Gallbladder Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000604 node EFO_0000840 obsolete_large intestine null http://www.ebi.ac.uk/efo/EFO_0000840 node BTO_0000583 bone marrow cancer cell null http://purl.obolibrary.org/obo/BTO_0000583 node EFO_0003626 obsolete_pharyngeal endoderm null http://www.ebi.ac.uk/efo/EFO_0003626 node UBERON_0014374 embryoid body null http://purl.obolibrary.org/obo/UBERON_0014374 node Orphanet_238 Digestive duplication null http://www.orpha.net/ORDO/Orphanet_238 node EFO_0010220 17-hydroxyprogesterone measurement null http://www.ebi.ac.uk/efo/EFO_0010220 node Orphanet_281103 Keratinopathic ichthyosis null http://www.orpha.net/ORDO/Orphanet_281103 node EFO_0010701 mean reticulocyte volume null http://www.ebi.ac.uk/efo/EFO_0010701 node NCBITaxon_5821 Plasmodium berghei null http://purl.obolibrary.org/obo/NCBITaxon_5821 node EFO_1000417 Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation null http://www.ebi.ac.uk/efo/EFO_1000417 node Orphanet_166282 Familial sick sinus syndrome null http://www.orpha.net/ORDO/Orphanet_166282 node UBERON_0003861 neural arch null http://purl.obolibrary.org/obo/UBERON_0003861 node Orphanet_71859 Rare genetic neurological disorder null http://www.orpha.net/ORDO/Orphanet_71859 node UBERON_0003684 abdominal cavity null http://purl.obolibrary.org/obo/UBERON_0003684 node EFO_0007209 Ciliophora infectious disease null http://www.ebi.ac.uk/efo/EFO_0007209 node EFO_0004233 leukopenia null http://www.ebi.ac.uk/efo/EFO_0004233 node HP_0008970 Scapulohumeral muscular dystrophy null http://purl.obolibrary.org/obo/HP_0008970 node UBERON_0002113 kidney null http://purl.obolibrary.org/obo/UBERON_0002113 node EFO_1000211 Cutaneous Follicular Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000211 node EFO_0006999 cancer aggressiveness measurement null http://www.ebi.ac.uk/efo/EFO_0006999 node Orphanet_326 Congenital factor V deficiency null http://www.orpha.net/ORDO/Orphanet_326 node EFO_0003714 obsolete_liver (Homo sapiens) null http://www.ebi.ac.uk/efo/EFO_0003714 node UBERON_0001115 left lobe of liver null http://purl.obolibrary.org/obo/UBERON_0001115 node Orphanet_262995 Partial trisomy of the long arm of chromosome 20 null http://www.orpha.net/ORDO/Orphanet_262995 node EFO_0006560 CW-2 null http://www.ebi.ac.uk/efo/EFO_0006560 node EFO_1000024 chronic rhinosinusitis null http://www.ebi.ac.uk/efo/EFO_1000024 node EFO_1000505 Rectal Tubulovillous Adenoma null http://www.ebi.ac.uk/efo/EFO_1000505 node EFO_0000061 CS57691 null http://www.ebi.ac.uk/efo/EFO_0000061 node MONDO_0060650 Leber congenital amaurosis with early-onset deafness null http://purl.obolibrary.org/obo/MONDO_0060650 node EFO_0010602 brain age measurement null http://www.ebi.ac.uk/efo/EFO_0010602 node PO_0007101 LP.09 nine leaves visible null http://purl.obolibrary.org/obo/PO_0007101 node NCBITaxon_90550 Macroptilium atropurpureum null http://purl.obolibrary.org/obo/NCBITaxon_90550 node Orphanet_800 Schwartz-Jampel syndrome Editor note: consider splitting out type 1 http://www.orpha.net/ORDO/Orphanet_800 node Orphanet_50 Aicardi syndrome null http://www.orpha.net/ORDO/Orphanet_50 node EFO_0009985 DNA SPRITE null http://www.ebi.ac.uk/efo/EFO_0009985 node EFO_0006679 NCI-H2373 null http://www.ebi.ac.uk/efo/EFO_0006679 node CLO_0016504 GM17808 null http://purl.obolibrary.org/obo/CLO_0016504 node Orphanet_137628 Cardiac anomalies - heterotaxy null http://www.orpha.net/ORDO/Orphanet_137628 node EFO_0005083 Illumina Genome Analyzer II standard manufacturer's protocol null http://www.ebi.ac.uk/efo/EFO_0005083 node UBERON_4000163 anal fin null http://purl.obolibrary.org/obo/UBERON_4000163 node EFO_1000112 Benign Ovarian Brenner Tumor null http://www.ebi.ac.uk/efo/EFO_1000112 node UBERON_0001016 nervous system null http://purl.obolibrary.org/obo/UBERON_0001016 node GO_0042752 regulation of circadian rhythm null http://purl.obolibrary.org/obo/GO_0042752 node CHEBI_28821 piperine null http://purl.obolibrary.org/obo/CHEBI_28821 node Orphanet_50814 Craniolenticulosutural dysplasia null http://www.orpha.net/ORDO/Orphanet_50814 node MONDO_0054741 combined oxidative phosphorylation deficiency 34 null http://purl.obolibrary.org/obo/MONDO_0054741 node Orphanet_251009 Maternal uniparental disomy of chromosome 1 null http://www.orpha.net/ORDO/Orphanet_251009 node Orphanet_295053 Amelia of upper limb, unilateral null http://www.orpha.net/ORDO/Orphanet_295053 node Orphanet_276405 Hyperbiliverdinemia null http://www.orpha.net/ORDO/Orphanet_276405 node MONDO_0000573 recombinase activating gene 2 deficiency null http://purl.obolibrary.org/obo/MONDO_0000573 node Orphanet_2089 Glycogen storage disease due to hepatic glycogen synthase deficiency null http://www.orpha.net/ORDO/Orphanet_2089 node NCBITaxon_518 Bordetella bronchiseptica null http://purl.obolibrary.org/obo/NCBITaxon_518 node GO_0050728 negative regulation of inflammatory response null http://purl.obolibrary.org/obo/GO_0050728 node ZFA_0001484 superficial blastomere null http://purl.obolibrary.org/obo/ZFA_0001484 node MONDO_0007263 cardiac rhythm disease null http://purl.obolibrary.org/obo/MONDO_0007263 node MONDO_0019546 other acquired skin disease Editor note: consider merging. http://purl.obolibrary.org/obo/MONDO_0019546 node MONDO_0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome null http://purl.obolibrary.org/obo/MONDO_0014472 node MONDO_0021440 benign neoplasm of skin null http://purl.obolibrary.org/obo/MONDO_0021440 node Orphanet_364577 Intellectual disability-brachydactyly-Pierre Robin syndrome null http://www.orpha.net/ORDO/Orphanet_364577 node Orphanet_2781 Osteopetrosis null http://www.orpha.net/ORDO/Orphanet_2781 node EFO_0009497 MSLCL null http://www.ebi.ac.uk/efo/EFO_0009497 node HP_0003489 Acute episodes of neuropathic symptoms Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia). http://purl.obolibrary.org/obo/HP_0003489 node Orphanet_2177 Hydranencephaly null http://www.orpha.net/ORDO/Orphanet_2177 node NCBITaxon_486 Neisseria lactamica null http://purl.obolibrary.org/obo/NCBITaxon_486 node Orphanet_104009 Congenital intestinal motility disorder null http://www.orpha.net/ORDO/Orphanet_104009 node HP_0012718 Morphological abnormality of the gastrointestinal tract null http://purl.obolibrary.org/obo/HP_0012718 node EFO_0010337 ventral diencephalon volume measurement null http://www.ebi.ac.uk/efo/EFO_0010337 node CL_0002029 Fc-epsilon RIalpha-low mast cell progenitor null http://purl.obolibrary.org/obo/CL_0002029 node Orphanet_220493 Joubert syndrome with ocular defect null http://www.orpha.net/ORDO/Orphanet_220493 node MONDO_0000474 pericardium disease null http://purl.obolibrary.org/obo/MONDO_0000474 node EFO_0006432 HCC2302 null http://www.ebi.ac.uk/efo/EFO_0006432 node EFO_0000132 CS57824 null http://www.ebi.ac.uk/efo/EFO_0000132 node EFO_0007228 cryptococcal meningitis null http://www.ebi.ac.uk/efo/EFO_0007228 node Orphanet_1034 Amniotic bands null http://www.orpha.net/ORDO/Orphanet_1034 node EFO_0008740 fC-Seal null http://www.ebi.ac.uk/efo/EFO_0008740 node EFO_0006383 COV362 null http://www.ebi.ac.uk/efo/EFO_0006383 node HP_0001388 Joint laxity Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles. http://purl.obolibrary.org/obo/HP_0001388 node EFO_0009398 hippocampal tail volume null http://www.ebi.ac.uk/efo/EFO_0009398 node EFO_0008553 femur fracture null http://www.ebi.ac.uk/efo/EFO_0008553 node CHEBI_29959 quinolinate(2-) null http://purl.obolibrary.org/obo/CHEBI_29959 node HP_0009824 Upper limb undergrowth null http://purl.obolibrary.org/obo/HP_0009824 node EFO_1000470 Peutz-Jeghers Polyp null http://www.ebi.ac.uk/efo/EFO_1000470 node MONDO_0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract null http://purl.obolibrary.org/obo/MONDO_0018537 node UBERON_0005403 ventral striatum null http://purl.obolibrary.org/obo/UBERON_0005403 node Orphanet_98540 Late-onset ataxia with dementia null http://www.orpha.net/ORDO/Orphanet_98540 node EFO_0008237 motor development measurement null http://www.ebi.ac.uk/efo/EFO_0008237 node Orphanet_3242 Renpenning syndrome null http://www.orpha.net/ORDO/Orphanet_3242 node EFO_1000293 Hepatoid Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000293 node EFO_0008718 DP-Seq null http://www.ebi.ac.uk/efo/EFO_0008718 node CL_0002471 MHC-II-negative non-classical monocyte null http://purl.obolibrary.org/obo/CL_0002471 node HP_0001172 Abnormal thumb morphology null http://purl.obolibrary.org/obo/HP_0001172 node EFO_0003796 interleukin-1 beta (Rattus norvegicus) null http://www.ebi.ac.uk/efo/EFO_0003796 node Orphanet_309005 Disorder of lipid metabolism null http://www.orpha.net/ORDO/Orphanet_309005 node EFO_0001917 obsolete_corneal epithelium null http://www.ebi.ac.uk/efo/EFO_0001917 node EFO_1000691 epidermolysis bullosa acquisita null http://www.ebi.ac.uk/efo/EFO_1000691 node EFO_0008641 3’-end-seq null http://www.ebi.ac.uk/efo/EFO_0008641 node CLO_0025850 GM00144 null http://purl.obolibrary.org/obo/CLO_0025850 node HP_0001476 Delayed closure of the anterior fontanelle null http://purl.obolibrary.org/obo/HP_0001476 node EFO_0002154 Capan2 null http://www.ebi.ac.uk/efo/EFO_0002154 node EFO_0001227 R28 null http://www.ebi.ac.uk/efo/EFO_0001227 node EFO_0006284 LOXIMVI null http://www.ebi.ac.uk/efo/EFO_0006284 node EFO_0000643 pathogen null http://www.ebi.ac.uk/efo/EFO_0000643 node CLO_0017021 GM17740 null http://purl.obolibrary.org/obo/CLO_0017021 node Orphanet_882 Tyrosinemia type 1 null http://www.orpha.net/ORDO/Orphanet_882 node Orphanet_93976 Anotia null http://www.orpha.net/ORDO/Orphanet_93976 node Orphanet_276399 Familial multinodular goiter null http://www.orpha.net/ORDO/Orphanet_276399 node CHEBI_50904 allergenic agent null http://purl.obolibrary.org/obo/CHEBI_50904 node UBERON_0002924 terminal nerve http://www.ncbi.nlm.nih.gov/pubmed/2286018 state: 'The presence of an additional cranial nerve (the nervus terminalis or cranial nerve zero) is well documented in many non-human vertebrate species. However, its existence in the adult human has been disputed. The present study focused on the structure and incidence of this nerve in the adult human brain. The nerve was examined post-mortem in 10 adult brains using dissection microscopy, light microscopy, transmission electron microscopy, and immunohistochemistry. In all specimens, the nervus terminalis was identified bilaterally as a microscopic plexus of unmyelinated peripheral nerve fascicles in the subarachnoid space covering the gyrus rectus of the orbital surface of the frontal lobes. The plexus appeared in the region of the cribriform plate of the ethmoid and coursed posteriorly to the vicinity of the olfactory trigone, medial olfactory gyrus, and lamina terminalis. We conclude that the terminal nerve is a common finding in the adult human brain, confirming early light microscopic reports.' http://purl.obolibrary.org/obo/UBERON_0002924 node Orphanet_95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency null http://www.orpha.net/ORDO/Orphanet_95699 node EFO_0008325 response to sotalol null http://www.ebi.ac.uk/efo/EFO_0008325 node Orphanet_97244 Rigid spine syndrome null http://www.orpha.net/ORDO/Orphanet_97244 node Orphanet_1970 Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation null http://www.orpha.net/ORDO/Orphanet_1970 node EFO_0008806 miCLIP-m5A null http://www.ebi.ac.uk/efo/EFO_0008806 node CHEBI_35717 sedative drug null http://purl.obolibrary.org/obo/CHEBI_35717 node Orphanet_79100 Atrophoderma vermiculata null http://www.orpha.net/ORDO/Orphanet_79100 node HP_0001260 Dysarthria null http://purl.obolibrary.org/obo/HP_0001260 node CHEBI_64559 lysophosphatidylcholine 20:5 null http://purl.obolibrary.org/obo/CHEBI_64559 node EFO_0008619 Simple Cyst of Kidney null http://www.ebi.ac.uk/efo/EFO_0008619 node EFO_0008065 calpastatin measurement null http://www.ebi.ac.uk/efo/EFO_0008065 node PATO_0000125 mass null http://purl.obolibrary.org/obo/PATO_0000125 node EFO_0010671 arterial embolism null http://www.ebi.ac.uk/efo/EFO_0010671 node MONDO_0054842 polycystic kidney disease 6 with or without polycystic liver disease null http://purl.obolibrary.org/obo/MONDO_0054842 node EFO_0002055 G1E-ER4 null http://www.ebi.ac.uk/efo/EFO_0002055 node EFO_0008413 susceptibility to urinary tract infection measurement null http://www.ebi.ac.uk/efo/EFO_0008413 node EFO_0002463 obsolete_geniculate nucleus null http://www.ebi.ac.uk/efo/EFO_0002463 node GO_0051234 establishment of localization null http://purl.obolibrary.org/obo/GO_0051234 node EFO_1000757 porokeratosis null http://www.ebi.ac.uk/efo/EFO_1000757 node Orphanet_122 Birt-Hogg-Dubé syndrome null http://www.orpha.net/ORDO/Orphanet_122 node Orphanet_171445 Muscle filaminopathy null http://www.orpha.net/ORDO/Orphanet_171445 node Orphanet_89832 Syndromic lymphedema null http://www.orpha.net/ORDO/Orphanet_89832 node Orphanet_217046 Autosomal recessive childhood-onset cortical cataract null http://www.orpha.net/ORDO/Orphanet_217046 node UBERON_0001290 proximal straight tubule null http://purl.obolibrary.org/obo/UBERON_0001290 node EFO_0008153 hepatocyte growth factor receptor measurement null http://www.ebi.ac.uk/efo/EFO_0008153 node GO_0044434 chloroplast part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0044434 node MONDO_0002513 kidney benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0002513 node NCBITaxon_160488 Pseudomonas putida KT2440 null http://purl.obolibrary.org/obo/NCBITaxon_160488 node Orphanet_217454 Rare hereditary thrombophilia null http://www.orpha.net/ORDO/Orphanet_217454 node EFO_0003092 obsolete_neurofibromatosis null http://www.ebi.ac.uk/efo/EFO_0003092 node HP_0001845 Overlapping toe This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly. http://purl.obolibrary.org/obo/HP_0001845 node EFO_0009855 frontal fibrosing alopecia null http://www.ebi.ac.uk/efo/EFO_0009855 node CHEBI_17768 N-acetylputrescine null http://purl.obolibrary.org/obo/CHEBI_17768 node Orphanet_168 Loose anagen syndrome null http://www.orpha.net/ORDO/Orphanet_168 node EFO_1000364 Mast Cell Sarcoma null http://www.ebi.ac.uk/efo/EFO_1000364 node EFO_0002551 obsolete_coronary artery null http://www.ebi.ac.uk/efo/EFO_0002551 node EFO_0010919 melusin measurement null http://www.ebi.ac.uk/efo/EFO_0010919 node CL_0000798 gamma-delta T cell Note that gamma-delta T cells have both thymic and extrathymic differentiation pathways. http://purl.obolibrary.org/obo/CL_0000798 node CL_0000817 precursor B cell null http://purl.obolibrary.org/obo/CL_0000817 node EFO_0002364 SW1783 null http://www.ebi.ac.uk/efo/EFO_0002364 node EFO_0009009 Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome null http://www.ebi.ac.uk/efo/EFO_0009009 node MONDO_0002601 teratoma null http://purl.obolibrary.org/obo/MONDO_0002601 node HP_0000044 Hypogonadotropic hypogonadism null http://purl.obolibrary.org/obo/HP_0000044 node CLO_0027467 GM15236 null http://purl.obolibrary.org/obo/CLO_0027467 node EFO_0006943 blood pressure change measurement null http://www.ebi.ac.uk/efo/EFO_0006943 node Orphanet_96170 Emanuel syndrome null http://www.orpha.net/ORDO/Orphanet_96170 node NCBITaxon_102106 Collinsella null http://purl.obolibrary.org/obo/NCBITaxon_102106 node Orphanet_1439 Ring chromosome 12 null http://www.orpha.net/ORDO/Orphanet_1439 node EFO_0000466 endometrioid carcinoma null http://www.ebi.ac.uk/efo/EFO_0000466 node NCBITaxon_1314 Streptococcus pyogenes null http://purl.obolibrary.org/obo/NCBITaxon_1314 node EFO_1001147 reflex sympathetic dystrophy null http://www.ebi.ac.uk/efo/EFO_1001147 node MONDO_0018638 pseudohypoaldosteronism null http://purl.obolibrary.org/obo/MONDO_0018638 node EFO_0000279 azoospermia null http://www.ebi.ac.uk/efo/EFO_0000279 node CL_0000905 effector memory CD4-positive, alpha-beta T cell This cell type is compatible with the HIPC Lyoplate markers for 'effector memory CD4+ T cell', but includes additional markers known to be expressed on effector memory CD4+ T cells. http://purl.obolibrary.org/obo/CL_0000905 node EFO_0005577 pharynx cancer null http://www.ebi.ac.uk/efo/EFO_0005577 node MONDO_0044992 mouth mucosa disease null http://purl.obolibrary.org/obo/MONDO_0044992 node Orphanet_2150 Hirschsprung disease - type D brachydactyly null http://www.orpha.net/ORDO/Orphanet_2150 node UBERON_0003934 mesenchyme pectoral fin null http://purl.obolibrary.org/obo/UBERON_0003934 node Orphanet_819 Smith-Magenis syndrome null http://www.orpha.net/ORDO/Orphanet_819 node EFO_0007793 BMI-adjusted leptin measurement null http://www.ebi.ac.uk/efo/EFO_0007793 node CL_0000392 crystal cell null http://purl.obolibrary.org/obo/CL_0000392 node Orphanet_96071 Distal trisomy 3p null http://www.orpha.net/ORDO/Orphanet_96071 node EFO_0000367 obsolete_common variable immunodeficiency null http://www.ebi.ac.uk/efo/EFO_0000367 node HP_0008909 Lethal short-limbed short stature null http://purl.obolibrary.org/obo/HP_0008909 node CHEBI_27173 typhasterol null http://purl.obolibrary.org/obo/CHEBI_27173 node EFO_1001048 mucinous cystadenoma null http://www.ebi.ac.uk/efo/EFO_1001048 node Orphanet_262653 Partial duplication of chromosome 11 null http://www.orpha.net/ORDO/Orphanet_262653 node EFO_0006562 DAN-G null http://www.ebi.ac.uk/efo/EFO_0006562 node CHEBI_44337 N-acetyl-L-glutamate(2-) null http://purl.obolibrary.org/obo/CHEBI_44337 node EFO_0005478 obsolete_U-266 null http://www.ebi.ac.uk/efo/EFO_0005478 node CHEBI_6437 levetiracetam null http://purl.obolibrary.org/obo/CHEBI_6437 node Orphanet_364198 Bipartite talus null http://www.orpha.net/ORDO/Orphanet_364198 node EFO_0007881 job-related exhaustion measurement null http://www.ebi.ac.uk/efo/EFO_0007881 node EFO_0005260 response to antimicrotubule agent null http://www.ebi.ac.uk/efo/EFO_0005260 node MONDO_0008869 Seckel syndrome 1 null http://purl.obolibrary.org/obo/MONDO_0008869 node HP_0012614 Abnormal urine cytology null http://purl.obolibrary.org/obo/HP_0012614 node Orphanet_295225 Congenital elbow dislocation, unilateral null http://www.orpha.net/ORDO/Orphanet_295225 node EFO_0004403 Theiler stage 12 null http://www.ebi.ac.uk/efo/EFO_0004403 node Orphanet_279943 Hereditary neutrophilia null http://www.orpha.net/ORDO/Orphanet_279943 node EFO_0000513 genotype Information, making the distinction between the actual physical material (e.g. a cell) and the information about the genetic content (genotype). http://www.ebi.ac.uk/efo/EFO_0000513 node MONDO_0019293 skin vascular disease null http://purl.obolibrary.org/obo/MONDO_0019293 node EFO_0006628 KYSE-180 null http://www.ebi.ac.uk/efo/EFO_0006628 node Orphanet_672 Pallister-Hall syndrome null http://www.orpha.net/ORDO/Orphanet_672 node Orphanet_208447 Bilateral generalized polymicrogyria null http://www.orpha.net/ORDO/Orphanet_208447 node EFO_0007953 iPS-NIHi7 null http://www.ebi.ac.uk/efo/EFO_0007953 node EFO_0005032 IP-seq null http://www.ebi.ac.uk/efo/EFO_0005032 node MONDO_0037747 spinal injury null http://purl.obolibrary.org/obo/MONDO_0037747 node EFO_1000851 byssinosis null http://www.ebi.ac.uk/efo/EFO_1000851 node EFO_0003873 parotid neoplasm null http://www.ebi.ac.uk/efo/EFO_0003873 node EFO_0007776 prothrombin fragments F1+2 measurement null http://www.ebi.ac.uk/efo/EFO_0007776 node Orphanet_485 Kniest dysplasia null http://www.orpha.net/ORDO/Orphanet_485 node HP_0001730 Progressive hearing impairment null http://purl.obolibrary.org/obo/HP_0001730 node CHEBI_15365 acetylsalicylic acid null http://purl.obolibrary.org/obo/CHEBI_15365 node MONDO_0002046 alcohol abuse null http://purl.obolibrary.org/obo/MONDO_0002046 node MONDO_0045042 restricted to specific location null http://purl.obolibrary.org/obo/MONDO_0045042 node Orphanet_295002 Hyperphalangy null http://www.orpha.net/ORDO/Orphanet_295002 node CHEBI_33146 vanadyl sulfate null http://purl.obolibrary.org/obo/CHEBI_33146 node UBERON_0007650 esophagogastric junction null http://purl.obolibrary.org/obo/UBERON_0007650 node BTO_0002844 breast invasive ductal carcinoma cell null http://purl.obolibrary.org/obo/BTO_0002844 node UBERON_0006904 head mesenchyme from mesoderm null http://purl.obolibrary.org/obo/UBERON_0006904 node Orphanet_53271 Muenke syndrome null http://www.orpha.net/ORDO/Orphanet_53271 node EFO_0003961 hormone replacement therapy null http://www.ebi.ac.uk/efo/EFO_0003961 node EFO_0007864 sulfate measurement null http://www.ebi.ac.uk/efo/EFO_0007864 node Orphanet_573 Monilethrix null http://www.orpha.net/ORDO/Orphanet_573 node UO_0000027 degree celsius null http://purl.obolibrary.org/obo/UO_0000027 node MONDO_0019927 growth hormone-producing pituitary gland neoplasm null http://purl.obolibrary.org/obo/MONDO_0019927 node Orphanet_98617 Bulbar conjunctival dermoid or conjunctival dermolipoma null http://www.orpha.net/ORDO/Orphanet_98617 node EFO_0007677 LDL peak particle diameter measurement null http://www.ebi.ac.uk/efo/EFO_0007677 node EFO_0008016 Agouti-related protein measurement null http://www.ebi.ac.uk/efo/EFO_0008016 node CHEBI_59695 cyproheptadine hydrochloride null http://purl.obolibrary.org/obo/CHEBI_59695 node EFO_0008891 Ribo-seq null http://www.ebi.ac.uk/efo/EFO_0008891 node Orphanet_166087 Von Willebrand disease type 2B null http://www.orpha.net/ORDO/Orphanet_166087 node NCBITaxon_1117 Cyanobacteria null http://purl.obolibrary.org/obo/NCBITaxon_1117 node EFO_1000448 Papillary Cystic Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000448 node CLO_0017023 GM17738 null http://purl.obolibrary.org/obo/CLO_0017023 node NCBITaxon_367830 Staphylococcus aureus subsp. aureus USA300 null http://purl.obolibrary.org/obo/NCBITaxon_367830 node EFO_0009910 chronic lung disease null http://www.ebi.ac.uk/efo/EFO_0009910 node EFO_0003399 obsolete_pole plasm null http://www.ebi.ac.uk/efo/EFO_0003399 node MONDO_0004843 pathologic nystagmus null http://purl.obolibrary.org/obo/MONDO_0004843 node CHEBI_3179 bromobenzene null http://purl.obolibrary.org/obo/CHEBI_3179 node Orphanet_319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency null http://www.orpha.net/ORDO/Orphanet_319623 node EFO_0001060 celiac disease null http://www.ebi.ac.uk/efo/EFO_0001060 node EFO_1000922 enterotoxemia null http://www.ebi.ac.uk/efo/EFO_1000922 node Orphanet_306597 X-linked Opitz G/BBB syndrome null http://www.orpha.net/ORDO/Orphanet_306597 node EFO_0009089 enrichment protocol null http://www.ebi.ac.uk/efo/EFO_0009089 node EFO_1000055 tongue squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_1000055 node EFO_1000536 Small Intestinal Intraepithelial Neoplasia null http://www.ebi.ac.uk/efo/EFO_1000536 node EFO_0003558 obsolete_segmental intercostal artery null http://www.ebi.ac.uk/efo/EFO_0003558 node HP_0002342 Intellectual disability, moderate null http://purl.obolibrary.org/obo/HP_0002342 node NCBITaxon_413502 Cronobacter turicensis null http://purl.obolibrary.org/obo/NCBITaxon_413502 node EFO_1001861 traumatic diaphragmatic hernia null http://www.ebi.ac.uk/efo/EFO_1001861 node HP_0003326 Myalgia null http://purl.obolibrary.org/obo/HP_0003326 node EFO_0004329 alcohol drinking null http://www.ebi.ac.uk/efo/EFO_0004329 node CHEBI_17243 mono(2-ethylhexyl) phthalate null http://purl.obolibrary.org/obo/CHEBI_17243 node Orphanet_165655 Genetic intestinal disease null http://www.orpha.net/ORDO/Orphanet_165655 node PO_0020127 primary root The main root of a plant, usually stouter than the lateral roots and growing straight downward from the stem. http://purl.obolibrary.org/obo/PO_0020127 node Orphanet_295110 Congenital absence/hypoplasia of thumb, unilateral null http://www.orpha.net/ORDO/Orphanet_295110 node Orphanet_319524 Combined oxidative phosphorylation defect type 15 null http://www.orpha.net/ORDO/Orphanet_319524 node EFO_0009658 adverse effect null http://www.ebi.ac.uk/efo/EFO_0009658 node EFO_0004750 interleukin 10 measurement null http://www.ebi.ac.uk/efo/EFO_0004750 node Orphanet_141265 Tessier number 6 facial cleft null http://www.orpha.net/ORDO/Orphanet_141265 node MONDO_0021439 benign neoplasm of pituitary gland null http://purl.obolibrary.org/obo/MONDO_0021439 node HP_0003110 Abnormality of urine homeostasis null http://purl.obolibrary.org/obo/HP_0003110 node EFO_0002618 pancreatic carcinoma null http://www.ebi.ac.uk/efo/EFO_0002618 node Orphanet_363314 Genetic intestinal polyposis null http://www.orpha.net/ORDO/Orphanet_363314 node Orphanet_295227 Congenital elbow dislocation, bilateral null http://www.orpha.net/ORDO/Orphanet_295227 node CHEBI_41922 diethylstilbestrol null http://purl.obolibrary.org/obo/CHEBI_41922 node HP_0005280 Depressed nasal bridge The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background. http://purl.obolibrary.org/obo/HP_0005280 node UBERON_0002372 tonsil null http://purl.obolibrary.org/obo/UBERON_0002372 node Orphanet_363722 Alexander disease type II null http://www.orpha.net/ORDO/Orphanet_363722 node Orphanet_307058 Miscellaneous movement disorder due to genetic neurodegenerative disease null http://www.orpha.net/ORDO/Orphanet_307058 node EFO_0005742 lung fibroblast derived cell line null http://www.ebi.ac.uk/efo/EFO_0005742 node HP_0008967 Exercise-induced muscle stiffness null http://purl.obolibrary.org/obo/HP_0008967 node EFO_0004815 alpha macroglobulin measurement null http://www.ebi.ac.uk/efo/EFO_0004815 node NCBITaxon_34386 Trichophyton schoenleinii null http://purl.obolibrary.org/obo/NCBITaxon_34386 node EFO_0010390 sphingomyelin 14:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010390 node CHEBI_7466 nandrolone null http://purl.obolibrary.org/obo/CHEBI_7466 node UBERON_0000977 pleura null http://purl.obolibrary.org/obo/UBERON_0000977 node MONDO_0016167 optic pathway glioma null http://purl.obolibrary.org/obo/MONDO_0016167 node EFO_0002225 L428 null http://www.ebi.ac.uk/efo/EFO_0002225 node CHEBI_64044 isoquinoline-1,5-diol null http://purl.obolibrary.org/obo/CHEBI_64044 node EFO_0002706 SM1 null http://www.ebi.ac.uk/efo/EFO_0002706 node MONDO_0015215 non-syndromic diaphragmatic or abdominal wall malformation null http://purl.obolibrary.org/obo/MONDO_0015215 node EFO_0000058 CS57666 null http://www.ebi.ac.uk/efo/EFO_0000058 node Orphanet_139030 Malformation syndrome with connective tissue involvement null http://www.orpha.net/ORDO/Orphanet_139030 node Orphanet_1572 Common variable immunodeficiency null http://www.orpha.net/ORDO/Orphanet_1572 node EFO_0005901 ELF-1 null http://www.ebi.ac.uk/efo/EFO_0005901 node MONDO_0007564 pilomatrixoma null http://purl.obolibrary.org/obo/MONDO_0007564 node EFO_0005830 ML-DmD32 null http://www.ebi.ac.uk/efo/EFO_0005830 node EFO_0004903 probe design element null http://www.ebi.ac.uk/efo/EFO_0004903 node Orphanet_363623 Autosomal recessive limb-girdle muscular dystrophy type 2T null http://www.orpha.net/ORDO/Orphanet_363623 node MONDO_0018201 extragonadal germ cell tumor null http://purl.obolibrary.org/obo/MONDO_0018201 node EFO_0001695 size null http://www.ebi.ac.uk/efo/EFO_0001695 node UBERON_0013702 body proper null http://purl.obolibrary.org/obo/UBERON_0013702 node EFO_0002313 PLB985 null http://www.ebi.ac.uk/efo/EFO_0002313 node MONDO_0060707 Ververi-Brady syndrome null http://purl.obolibrary.org/obo/MONDO_0060707 node EFO_0007795 anxiety disorder measurement null http://www.ebi.ac.uk/efo/EFO_0007795 node Orphanet_108969 Syndromic intestinal malformation null http://www.orpha.net/ORDO/Orphanet_108969 node Orphanet_314655 5q31.3 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_314655 node Orphanet_331249 Immunodeficiency syndrome with hypopigmentation null http://www.orpha.net/ORDO/Orphanet_331249 node EFO_0006910 HPL1E null http://www.ebi.ac.uk/efo/EFO_0006910 node EFO_0006705 OAW42 null http://www.ebi.ac.uk/efo/EFO_0006705 node EFO_0001783 RNA stability design null http://www.ebi.ac.uk/efo/EFO_0001783 node EFO_0000228 adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0000228 node EFO_0010854 HG02885 null http://www.ebi.ac.uk/efo/EFO_0010854 node EFO_0005339 GM12866 null http://www.ebi.ac.uk/efo/EFO_0005339 node MONDO_0013928 dystonia 23 null http://purl.obolibrary.org/obo/MONDO_0013928 node CHEBI_15243 threonate null http://purl.obolibrary.org/obo/CHEBI_15243 node Orphanet_98636 Corneoiridogoniodysgenesis null http://www.orpha.net/ORDO/Orphanet_98636 node EFO_0007720 carotid artery internal diameter measurement null http://www.ebi.ac.uk/efo/EFO_0007720 node Orphanet_2999 Ptosis - strabismus - ectopic pupils null http://www.orpha.net/ORDO/Orphanet_2999 node UBERON_0002391 lymph null http://purl.obolibrary.org/obo/UBERON_0002391 node EFO_0009759 Chronic Obstructive Asthma null http://www.ebi.ac.uk/efo/EFO_0009759 node EFO_0000129 CS57820 null http://www.ebi.ac.uk/efo/EFO_0000129 node EFO_0005427 social communication impairment null http://www.ebi.ac.uk/efo/EFO_0005427 node NCBITaxon_87173 Geospiza difficilis null http://purl.obolibrary.org/obo/NCBITaxon_87173 node NCBITaxon_29303 Streptomyces cattleya null http://purl.obolibrary.org/obo/NCBITaxon_29303 node Orphanet_85448 Familial amyloidosis, Finnish type null http://www.orpha.net/ORDO/Orphanet_85448 node EFO_0008096 complement factor B measurement null http://www.ebi.ac.uk/efo/EFO_0008096 node Orphanet_289499 Congenital cataract microcornea with corneal opacity null http://www.orpha.net/ORDO/Orphanet_289499 node Orphanet_978 ADULT syndrome null http://www.orpha.net/ORDO/Orphanet_978 node NCBITaxon_1770 Mycobacterium avium subsp. paratuberculosis null http://purl.obolibrary.org/obo/NCBITaxon_1770 node CHEBI_5615 halothane null http://purl.obolibrary.org/obo/CHEBI_5615 node UBERON_0009970 epithelium of pancreatic duct null http://purl.obolibrary.org/obo/UBERON_0009970 node Orphanet_98724 congenital anomaly of the great arteries null http://www.orpha.net/ORDO/Orphanet_98724 node MONDO_0014820 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) null http://purl.obolibrary.org/obo/MONDO_0014820 node HP_0000999 Pyoderma Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions. http://purl.obolibrary.org/obo/HP_0000999 node Orphanet_288 Hereditary elliptocytosis null http://www.orpha.net/ORDO/Orphanet_288 node EFO_0008494 Chikungunya encephalitis null http://www.ebi.ac.uk/efo/EFO_0008494 node NCBITaxon_1583 Weissella confusa null http://purl.obolibrary.org/obo/NCBITaxon_1583 node MONDO_0100036 variable age onset epilepsy null http://purl.obolibrary.org/obo/MONDO_0100036 node Orphanet_65753 Charcot-Marie-Tooth disease type 1 null http://www.orpha.net/ORDO/Orphanet_65753 node EFO_1001394 Peritoneal Fibrosis null http://www.ebi.ac.uk/efo/EFO_1001394 node EFO_1000467 Peritoneal Mesothelioma null http://www.ebi.ac.uk/efo/EFO_1000467 node CHEBI_5001 fenofibrate null http://purl.obolibrary.org/obo/CHEBI_5001 node MONDO_0032912 Coffin-Siris syndrome 11 null http://purl.obolibrary.org/obo/MONDO_0032912 node Orphanet_357332 Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes null http://www.orpha.net/ORDO/Orphanet_357332 node Orphanet_101010 Autosomal recessive spastic paraplegia type 30 null http://www.orpha.net/ORDO/Orphanet_101010 node EFO_0005034 anti-CTCF null http://www.ebi.ac.uk/efo/EFO_0005034 node UBERON_0001828 gingiva null http://purl.obolibrary.org/obo/UBERON_0001828 node EFO_0009847 dizziness null http://www.ebi.ac.uk/efo/EFO_0009847 node Orphanet_276255 Xeroderma pigmentosum complementation group C null http://www.orpha.net/ORDO/Orphanet_276255 node HP_0010992 Stress urinary incontinence null http://purl.obolibrary.org/obo/HP_0010992 node EFO_0008582 thrombin activatable fibrinolysis inhibitor activation peptide measurement null http://www.ebi.ac.uk/efo/EFO_0008582 node MONDO_0100124 NAA10-related syndrome null http://purl.obolibrary.org/obo/MONDO_0100124 node MONDO_0014013 maternal riboflavin deficiency null http://purl.obolibrary.org/obo/MONDO_0014013 node MONDO_0002406 dermatitis null http://purl.obolibrary.org/obo/MONDO_0002406 node Orphanet_2504 Metaphyseal dysplasia - maxillary hypoplasia - brachydacty null http://www.orpha.net/ORDO/Orphanet_2504 node Orphanet_400018 Rare female infertility due to adrenal disorder of genetic origin null http://www.orpha.net/ORDO/Orphanet_400018 node EFO_1001880 chemotherapy-induced gastrointestinal mucositis null http://www.ebi.ac.uk/efo/EFO_1001880 node MONDO_0009619 microcephaly-micromelia syndrome null http://purl.obolibrary.org/obo/MONDO_0009619 node Orphanet_306674 Kufor-Rakeb syndrome null http://www.orpha.net/ORDO/Orphanet_306674 node UO_0000029 microsecond null http://purl.obolibrary.org/obo/UO_0000029 node EFO_0003822 hyperemia null http://www.ebi.ac.uk/efo/EFO_0003822 node EFO_1000613 Uterine Carcinosarcoma null http://www.ebi.ac.uk/efo/EFO_1000613 node CL_0000771 eosinophil Eosinophils are also CD14-negative, CD32-positive, CD44-positive, CD48-positive, CD69-positive, CD192-negative, MBP1-positive, MBP2-positive, TLR2-negative, TLR4-negative, and lineage-negative (B220, CD2, CD14, CD19, CD56, CD71, CD117, CD123, CD235a (glycophorin A), and TER119). The cytokines IL-3, IL-5, and GM-CSF are involved in their development and differentiation. Usually considered CD16-negative, CD16 is observed on eosinophilic metamyelocyte. http://purl.obolibrary.org/obo/CL_0000771 node EFO_0008670 caMAB-seq null http://www.ebi.ac.uk/efo/EFO_0008670 node Orphanet_228346 CLN3 disease null http://www.orpha.net/ORDO/Orphanet_228346 node HP_0031703 Abnormal ear morphology null http://purl.obolibrary.org/obo/HP_0031703 node NCBITaxon_11053 Dengue virus 1 null http://purl.obolibrary.org/obo/NCBITaxon_11053 node Orphanet_119 Autosomal recessive limb-girdle muscular dystrophy type 2E null http://www.orpha.net/ORDO/Orphanet_119 node Orphanet_3332 Hypoplastic tibiae - postaxial polydactyly null http://www.orpha.net/ORDO/Orphanet_3332 node Orphanet_2405 Thickened earlobes - conductive deafness null http://www.orpha.net/ORDO/Orphanet_2405 node Orphanet_306762 Progressive epilepsy and/or ataxia with myoclonus as a major feature null http://www.orpha.net/ORDO/Orphanet_306762 node UBERON_0003693 retroperitoneal space null http://purl.obolibrary.org/obo/UBERON_0003693 node Orphanet_35909 Combined deficiency of factor V and factor VIII null http://www.orpha.net/ORDO/Orphanet_35909 node EFO_0003910 obsolete_von Willebrand disease null http://www.ebi.ac.uk/efo/EFO_0003910 node EFO_1000220 Disseminated Peritoneal Leiomyomatosis null http://www.ebi.ac.uk/efo/EFO_1000220 node Orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia null http://www.orpha.net/ORDO/Orphanet_217656 node EFO_1000701 follicular mucinosis null http://www.ebi.ac.uk/efo/EFO_1000701 node EFO_0003723 obsolete_kidney (Homo sapiens) null http://www.ebi.ac.uk/efo/EFO_0003723 node UBERON_0001124 null null http://purl.obolibrary.org/obo/UBERON_0001124 node EFO_0009349 Anti-herpes simplex virus 1 IgG measurement null http://www.ebi.ac.uk/efo/EFO_0009349 node MONDO_0002000 anaerobic meningitis null http://purl.obolibrary.org/obo/MONDO_0002000 node EFO_0003652 obsolete_ovarian follicle stage I null http://www.ebi.ac.uk/efo/EFO_0003652 node Orphanet_232288 Alpha-thalassemia-related diseases null http://www.orpha.net/ORDO/Orphanet_232288 node Orphanet_168782 Childhood disintegrative disorder null http://www.orpha.net/ORDO/Orphanet_168782 node EFO_1001769 carcinoid heart disease null http://www.ebi.ac.uk/efo/EFO_1001769 node EFO_0001062 cytomegalovirus infection null http://www.ebi.ac.uk/efo/EFO_0001062 node CLO_0013965 GM17158 null http://purl.obolibrary.org/obo/CLO_0013965 node HP_0001332 Dystonia null http://purl.obolibrary.org/obo/HP_0001332 node HP_0000405 Conductive hearing impairment A conductive hearing impariment with greater than 90 dB loss. http://purl.obolibrary.org/obo/HP_0000405 node EFO_0008415 susceptibility to hepatitis A infection measurement null http://www.ebi.ac.uk/efo/EFO_0008415 node CL_0000899 T-helper 17 cell This cell type is compatible with the HIPC Lyoplate markers for 'Th17 CD4+ T cell', but its logical definition includes additional known characteristics of T-helper 17 T cells. http://purl.obolibrary.org/obo/CL_0000899 node EFO_0000417 obsolete_dorsal epidermis primordium null http://www.ebi.ac.uk/efo/EFO_0000417 node EFO_1001079 oxyphilic adenoma null http://www.ebi.ac.uk/efo/EFO_1001079 node Orphanet_99734 Myotonia fluctuans null http://www.orpha.net/ORDO/Orphanet_99734 node Orphanet_88917 X-linked Alport syndrome null http://www.orpha.net/ORDO/Orphanet_88917 node EFO_0000796 obsolete_animal fluid null http://www.ebi.ac.uk/efo/EFO_0000796 node UBERON_2001053 future internal carotid artery null http://purl.obolibrary.org/obo/UBERON_2001053 node CHEBI_32391 gamma-linolenate null http://purl.obolibrary.org/obo/CHEBI_32391 node Orphanet_96167 Recombinant 8 syndrome null http://www.orpha.net/ORDO/Orphanet_96167 node Orphanet_93446 Primary bone dysplasia with decreased bone density null http://www.orpha.net/ORDO/Orphanet_93446 node HP_0025423 Abnormal larynx morphology null http://purl.obolibrary.org/obo/HP_0025423 node EFO_0001150 GM12751 null http://www.ebi.ac.uk/efo/EFO_0001150 node Orphanet_262749 Partial duplication of the short arm of chromosome 7 null http://www.orpha.net/ORDO/Orphanet_262749 node EFO_0005291 Dark agouti null http://www.ebi.ac.uk/efo/EFO_0005291 node CL_0000987 IgA plasma cell null http://purl.obolibrary.org/obo/CL_0000987 node OBI_0000070 assay null http://purl.obolibrary.org/obo/OBI_0000070 node EFO_0000505 obsolete_gastrointestinal stromal tumor null http://www.ebi.ac.uk/efo/EFO_0000505 node MONDO_0021233 ear neoplasm null http://purl.obolibrary.org/obo/MONDO_0021233 node EFO_0000318 cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_0000318 node NCBITaxon_246196 Mycobacterium smegmatis str. MC2 155 null http://purl.obolibrary.org/obo/NCBITaxon_246196 node Orphanet_262672 Partial duplication of chromosome 16 null http://www.orpha.net/ORDO/Orphanet_262672 node EFO_0006513 hereditary hemochromatosis type 1 Editor note: check ORDO entry http://www.ebi.ac.uk/efo/EFO_0006513 node EFO_0003939 energy intake null http://www.ebi.ac.uk/efo/EFO_0003939 node Orphanet_402082 Progressive myoclonic epilepsy type 5 null http://www.orpha.net/ORDO/Orphanet_402082 node Orphanet_41751 Bietti crystalline dystrophy null http://www.orpha.net/ORDO/Orphanet_41751 node Orphanet_1188 Ataxia-deafness-intellectual disability syndrome null http://www.orpha.net/ORDO/Orphanet_1188 node EFO_0006601 JHH-4 null http://www.ebi.ac.uk/efo/EFO_0006601 node PO_0009067 filament null http://purl.obolibrary.org/obo/PO_0009067 node Orphanet_2370 Larsen-like osseous dysplasia - short stature null http://www.orpha.net/ORDO/Orphanet_2370 node EFO_0010545 uridine diphosphate measurement null http://www.ebi.ac.uk/efo/EFO_0010545 node EFO_0006392 FA6 null http://www.ebi.ac.uk/efo/EFO_0006392 node Orphanet_2674 Cyprus facial-neuromusculoskeletal syndrome null http://www.orpha.net/ORDO/Orphanet_2674 node EFO_0007669 antitragus size null http://www.ebi.ac.uk/efo/EFO_0007669 node CHEBI_68641 (-)-cotinine null http://purl.obolibrary.org/obo/CHEBI_68641 node EFO_0009992 Bubble-Seq null http://www.ebi.ac.uk/efo/EFO_0009992 node HP_0000399 Prelingual sensorineural hearing impairment null http://purl.obolibrary.org/obo/HP_0000399 node GO_0016043 cellular component organization null http://purl.obolibrary.org/obo/GO_0016043 node Orphanet_2487 Lower limb deficiency - hypospadias null http://www.orpha.net/ORDO/Orphanet_2487 node Orphanet_786 Glucocorticoid resistance null http://www.orpha.net/ORDO/Orphanet_786 node CL_0002055 CD38-negative immature B cell Markers are associated with human cell type. http://purl.obolibrary.org/obo/CL_0002055 node EFO_0005504 fully-elongated embryo Ce null http://www.ebi.ac.uk/efo/EFO_0005504 node EFO_0010152 response to phenylephrine null http://www.ebi.ac.uk/efo/EFO_0010152 node EFO_0007451 Polyomavirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007451 node CL_0002463 SIRPa-positive adipose dendritic cell null http://purl.obolibrary.org/obo/CL_0002463 node Orphanet_2253 Foveal hypoplasia - presenile cataract null http://www.orpha.net/ORDO/Orphanet_2253 node EFO_0010633 Siddiqi syndrome null http://www.ebi.ac.uk/efo/EFO_0010633 node EFO_0006480 RT4 null http://www.ebi.ac.uk/efo/EFO_0006480 node EFO_0005118 IGFBP-1 measurement null http://www.ebi.ac.uk/efo/EFO_0005118 node UO_0000000 unit null http://purl.obolibrary.org/obo/UO_0000000 node Orphanet_391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome null http://www.orpha.net/ORDO/Orphanet_391677 node UBERON_0010302 amnioserosa null http://purl.obolibrary.org/obo/UBERON_0010302 node OBI_0400113 oligonucleotide synthesizer null http://purl.obolibrary.org/obo/OBI_0400113 node Orphanet_85290 X-linked intellectual disability, Wilson type null http://www.orpha.net/ORDO/Orphanet_85290 node EFO_0001644 obsolete_stria vascularis null http://www.ebi.ac.uk/efo/EFO_0001644 node Orphanet_669 Otopalatodigital syndrome null http://www.orpha.net/ORDO/Orphanet_669 node MONDO_0001835 facial paralysis null http://purl.obolibrary.org/obo/MONDO_0001835 node HP_0009717 Cortical tubers null http://purl.obolibrary.org/obo/HP_0009717 node EFO_0008261 plasma protease C1 inhibitor measurement null http://www.ebi.ac.uk/efo/EFO_0008261 node EFO_0006336 diastolic blood pressure null http://www.ebi.ac.uk/efo/EFO_0006336 node MONDO_0024656 colorectal lymphoma null http://purl.obolibrary.org/obo/MONDO_0024656 node HP_0031860 Abnormal heart rate variability null http://purl.obolibrary.org/obo/HP_0031860 node Orphanet_90118 Severe early-onset axonal neuropathy due to MFN2 deficiency null http://www.orpha.net/ORDO/Orphanet_90118 node EFO_0009936 Drugs affecting bone structure and mineralization use measurement null http://www.ebi.ac.uk/efo/EFO_0009936 node CHEBI_63978 N-allyl-1-phenyl-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide null http://purl.obolibrary.org/obo/CHEBI_63978 node EFO_0001732 consultant null http://www.ebi.ac.uk/efo/EFO_0001732 node EFO_0008965 TCC null http://www.ebi.ac.uk/efo/EFO_0008965 node MONDO_0001259 pituitary gland infarction null http://purl.obolibrary.org/obo/MONDO_0001259 node EFO_0002472 obsolete_somatomotor cortex null http://www.ebi.ac.uk/efo/EFO_0002472 node Orphanet_93351 Spondyloepimetaphyseal dysplasia, Irapa type null http://www.orpha.net/ORDO/Orphanet_93351 node GO_0052047 interaction with other organism via secreted substance involved in symbiotic interaction null http://purl.obolibrary.org/obo/GO_0052047 node EFO_0000985 obsolete_ejaculatory duct null http://www.ebi.ac.uk/efo/EFO_0000985 node Orphanet_235832 Congenital vascular bone syndrome Editor note: see https://github.com/monarch-initiative/mondo/issues/114 http://www.orpha.net/ORDO/Orphanet_235832 node EFO_0008218 macrophage inflammatory protein 1a measurement null http://www.ebi.ac.uk/efo/EFO_0008218 node EFO_0006424 HCC1263 null http://www.ebi.ac.uk/efo/EFO_0006424 node HP_0000152 Abnormality of head or neck null http://purl.obolibrary.org/obo/HP_0000152 node EFO_0000890 invertebrate ganglion null http://www.ebi.ac.uk/efo/EFO_0000890 node Orphanet_169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency null http://www.orpha.net/ORDO/Orphanet_169154 node Orphanet_139536 Distal hereditary motor neuropathy type 5 null http://www.orpha.net/ORDO/Orphanet_139536 node Orphanet_91133 Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism null http://www.orpha.net/ORDO/Orphanet_91133 node NCBITaxon_1585 Lactobacillus delbrueckii subsp. bulgaricus null http://purl.obolibrary.org/obo/NCBITaxon_1585 node Orphanet_79237 Galactokinase deficiency null http://www.orpha.net/ORDO/Orphanet_79237 node EFO_0000592 obsolete_mixed lobular and ductal breast carcinoma null http://www.ebi.ac.uk/efo/EFO_0000592 node EFO_0002560 gastrula 80%-epiboly null http://www.ebi.ac.uk/efo/EFO_0002560 node Orphanet_99806 Oculootodental syndrome null http://www.orpha.net/ORDO/Orphanet_99806 node EFO_0000868 obsolete_bone marrow null http://www.ebi.ac.uk/efo/EFO_0000868 node Orphanet_263458 Hyperinsulinism due to INSR deficiency null http://www.orpha.net/ORDO/Orphanet_263458 node Orphanet_170 Woolly hair null http://www.orpha.net/ORDO/Orphanet_170 node Orphanet_3047 Blepharophimosis-intellectual disability syndrome, SBBYS type null http://www.orpha.net/ORDO/Orphanet_3047 node EFO_0009631 fall null http://www.ebi.ac.uk/efo/EFO_0009631 node EFO_0009426 necrosis null http://www.ebi.ac.uk/efo/EFO_0009426 node NCBITaxon_3847 Glycine max null http://purl.obolibrary.org/obo/NCBITaxon_3847 node Orphanet_79325 ALG8-CDG null http://www.orpha.net/ORDO/Orphanet_79325 node EFO_0009907 Desmoid-type fibromatosis null http://www.ebi.ac.uk/efo/EFO_0009907 node EFO_0002161 DKMG null http://www.ebi.ac.uk/efo/EFO_0002161 node MONDO_0002408 hereditary hyperbilirubinemia null http://purl.obolibrary.org/obo/MONDO_0002408 node MONDO_0015081 neuroendocrine tumor with other location Editor note: consider obsoleting http://purl.obolibrary.org/obo/MONDO_0015081 node EFO_0005773 retinal detachment null http://www.ebi.ac.uk/efo/EFO_0005773 node EFO_0004846 serotonin measurement null http://www.ebi.ac.uk/efo/EFO_0004846 node Orphanet_70589 Bronchopulmonary dysplasia null http://www.orpha.net/ORDO/Orphanet_70589 node EFO_1001156 retinal vasculitis null http://www.ebi.ac.uk/efo/EFO_1001156 node Orphanet_1377 Cataract-microcornea syndrome null http://www.orpha.net/ORDO/Orphanet_1377 node HP_0002045 Hypothermia A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F). http://purl.obolibrary.org/obo/HP_0002045 node Orphanet_1962 Exostoses - anetodermia - brachydactyly type E null http://www.orpha.net/ORDO/Orphanet_1962 node EFO_0009232 Blast Count null http://www.ebi.ac.uk/efo/EFO_0009232 node Orphanet_238670 Isolated thyrotropin-releasing hormone deficiency null http://www.orpha.net/ORDO/Orphanet_238670 node EFO_0009609 myocarditis null http://www.ebi.ac.uk/efo/EFO_0009609 node Orphanet_3135 Familial Scheuermann disease null http://www.orpha.net/ORDO/Orphanet_3135 node EFO_0009514 upper extremity fracture null http://www.ebi.ac.uk/efo/EFO_0009514 node Orphanet_1598 Monosomy 18p null http://www.orpha.net/ORDO/Orphanet_1598 node EFO_1001858 Tarlov Cysts null http://www.ebi.ac.uk/efo/EFO_1001858 node CHEBI_22986 calcium ionophore null http://purl.obolibrary.org/obo/CHEBI_22986 node EFO_0003045 H9 null http://www.ebi.ac.uk/efo/EFO_0003045 node EFO_0002118 BV173 null http://www.ebi.ac.uk/efo/EFO_0002118 node GO_0046129 purine ribonucleoside biosynthetic process null http://purl.obolibrary.org/obo/GO_0046129 node HP_0002747 Respiratory insufficiency due to muscle weakness null http://purl.obolibrary.org/obo/HP_0002747 node NCBITaxon_11604 Puumala virus null http://purl.obolibrary.org/obo/NCBITaxon_11604 node EFO_0000563 large cell neuroendocrine carcinoma null http://www.ebi.ac.uk/efo/EFO_0000563 node EFO_1000421 Ovarian Granulosa Cell Tumor null http://www.ebi.ac.uk/efo/EFO_1000421 node EFO_0010476 dimethylglycine measurement null http://www.ebi.ac.uk/efo/EFO_0010476 node EFO_1001244 xanthogranulomatous pyelonephritis null http://www.ebi.ac.uk/efo/EFO_1001244 node EFO_0005674 white matter microstructure measurement null http://www.ebi.ac.uk/efo/EFO_0005674 node EFO_0004747 protein measurement null http://www.ebi.ac.uk/efo/EFO_0004747 node EFO_0009320 RUES2 null http://www.ebi.ac.uk/efo/EFO_0009320 node EFO_0010299 corpus callosum volume measurement null http://www.ebi.ac.uk/efo/EFO_0010299 node EFO_0004193 basal cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0004193 node MONDO_0003000 central nervous system germ cell tumor null http://purl.obolibrary.org/obo/MONDO_0003000 node Orphanet_98895 Becker muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_98895 node EFO_1001465 gliosarcoma null http://www.ebi.ac.uk/efo/EFO_1001465 node EFO_1001946 childhood B acute lymphoblastic leukemia null http://www.ebi.ac.uk/efo/EFO_1001946 node EFO_0005895 ossification of the posterior longitudinal ligament of the spine null http://www.ebi.ac.uk/efo/EFO_0005895 node EFO_0004968 Alexa Fluor 555 null http://www.ebi.ac.uk/efo/EFO_0004968 node UBERON_0000011 parasympathetic nervous system null http://purl.obolibrary.org/obo/UBERON_0000011 node Orphanet_262914 Partial duplication of the long arm of chromosome 10 null http://www.orpha.net/ORDO/Orphanet_262914 node EFO_0010564 glycosylphosphatidylinositol biosynthesis defect 21 null http://www.ebi.ac.uk/efo/EFO_0010564 node CHEBI_2274 7-methylguanine null http://purl.obolibrary.org/obo/CHEBI_2274 node CLO_0013826 GM17199 null http://purl.obolibrary.org/obo/CLO_0013826 node UBERON_0011648 jaw muscle null http://purl.obolibrary.org/obo/UBERON_0011648 node CHEBI_26155 plant growth regulator null http://purl.obolibrary.org/obo/CHEBI_26155 node EFO_0010387 phosphatidylcholine 38:5 measurement null http://www.ebi.ac.uk/efo/EFO_0010387 node EFO_0010401 triacylglycerol 46:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010401 node MONDO_0002973 epithelioid cell melanoma null http://purl.obolibrary.org/obo/MONDO_0002973 node Orphanet_98983 Congenital cataract, Volkmann type null http://www.orpha.net/ORDO/Orphanet_98983 node CHEBI_40521 N(alpha)-acetyl-L-arginine null http://purl.obolibrary.org/obo/CHEBI_40521 node CHEBI_35620 vasodilator agent null http://purl.obolibrary.org/obo/CHEBI_35620 node MONDO_0015820 primary cutaneous B-cell lymphoma null http://purl.obolibrary.org/obo/MONDO_0015820 node EFO_0000201 obsolete_precursor T lymphoblastic leukemia obsolete - duplication with T cell acute lymphoblastic leukemia EFO_0000209 use this instead http://www.ebi.ac.uk/efo/EFO_0000201 node NCBITaxon_85552 Scylla paramamosain null http://purl.obolibrary.org/obo/NCBITaxon_85552 node NCBITaxon_349161 Desulfotomaculum reducens MI-1 null http://purl.obolibrary.org/obo/NCBITaxon_349161 node EFO_0008698 CPT-seq null http://www.ebi.ac.uk/efo/EFO_0008698 node Orphanet_244310 RFT1-CDG null http://www.orpha.net/ORDO/Orphanet_244310 node Orphanet_2751 Orofaciodigital syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_2751 node EFO_0007746 white matter lesion progression measurement null http://www.ebi.ac.uk/efo/EFO_0007746 node EFO_0006819 mild disease course null http://www.ebi.ac.uk/efo/EFO_0006819 node EFO_0004341 body fat distribution null http://www.ebi.ac.uk/efo/EFO_0004341 node EFO_0003414 obsolete_embryonic leading edge cell null http://www.ebi.ac.uk/efo/EFO_0003414 node Orphanet_15 Achondroplasia null http://www.orpha.net/ORDO/Orphanet_15 node MONDO_0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic null http://purl.obolibrary.org/obo/MONDO_0009866 node MONDO_0045012 steroid metabolism disease null http://purl.obolibrary.org/obo/MONDO_0045012 node MONDO_0013578 DYRK1A-related intellectual disability syndrome null http://purl.obolibrary.org/obo/MONDO_0013578 node Orphanet_85200 Ischio-vertebral syndrome null http://www.orpha.net/ORDO/Orphanet_85200 node EFO_0010710 endometrial glandular epithelial cell Made as a placeholder for AE anatomagrams, term should be requested in CL. http://www.ebi.ac.uk/efo/EFO_0010710 node EFO_0007834 liver dysplastic nodule null http://www.ebi.ac.uk/efo/EFO_0007834 node EFO_0005400 chemotherapy-induced alopecia null http://www.ebi.ac.uk/efo/EFO_0005400 node EFO_0006787 HM7 null http://www.ebi.ac.uk/efo/EFO_0006787 node EFO_0006907 HPL1A null http://www.ebi.ac.uk/efo/EFO_0006907 node BTO_0003250 colonic epithelium cell line null http://purl.obolibrary.org/obo/BTO_0003250 node EFO_0003502 obsolete_ventral mesenchyme null http://www.ebi.ac.uk/efo/EFO_0003502 node MONDO_0030027 tremor, hereditary essential, 6 null http://purl.obolibrary.org/obo/MONDO_0030027 node CHEBI_17029 chitin null http://purl.obolibrary.org/obo/CHEBI_17029 node NCBITaxon_10091 Mus musculus castaneus null http://purl.obolibrary.org/obo/NCBITaxon_10091 node Orphanet_261 Emery-Dreifuss muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_261 node NCBITaxon_94898 Masticophis null http://purl.obolibrary.org/obo/NCBITaxon_94898 node BTO_0001678 obsolete_Th1-cell null http://purl.obolibrary.org/obo/BTO_0001678 node MONDO_0017349 myopericytoma null http://purl.obolibrary.org/obo/MONDO_0017349 node EFO_0009994 scABA-seq null http://www.ebi.ac.uk/efo/EFO_0009994 node GO_1901576 organic substance biosynthetic process null http://purl.obolibrary.org/obo/GO_1901576 node BTO_0001899 stationary phase culture null http://purl.obolibrary.org/obo/BTO_0001899 node FBbt_00005566 ventral midline neuron Obsoleted as definition makes this equivalent to 'larval midline neuron' FBbt:00016016 [FBC:CP]. http://purl.obolibrary.org/obo/FBbt_00005566 node Orphanet_2348 Familial partial lipodystrophy, Dunnigan type null http://www.orpha.net/ORDO/Orphanet_2348 node MONDO_0019467 CD4+/CD56+ hematodermic neoplasm null http://purl.obolibrary.org/obo/MONDO_0019467 node CHEBI_29371 dioxygen(2+) null http://purl.obolibrary.org/obo/CHEBI_29371 node EFO_1000826 atrophic gastritis null http://www.ebi.ac.uk/efo/EFO_1000826 node EFO_0007453 postpartum depression null http://www.ebi.ac.uk/efo/EFO_0007453 node EFO_0009703 red blood cell folate measurement null http://www.ebi.ac.uk/efo/EFO_0009703 node UBERON_0001736 submandibular gland lobular, sexually dimorphic in mouse http://purl.obolibrary.org/obo/UBERON_0001736 node MONDO_0003429 functioning pituitary gland adenoma null http://purl.obolibrary.org/obo/MONDO_0003429 node PO_0025501 fruit formation stage A fruit formation stage may begin without fertilization or formation of a plant zygote (PO:0000423) in cases of parthenocarpy, apomixis, or other hormone-induced conditions. This stage applies to an individual fruit. For the development stage of a whole plant (PO:0000003), use whole plant fruit formation stage (PO:0007042). http://purl.obolibrary.org/obo/PO_0025501 node NCBITaxon_714 Aggregatibacter actinomycetemcomitans null http://purl.obolibrary.org/obo/NCBITaxon_714 node EFO_0003595 obsolete_posterior lateral line null http://www.ebi.ac.uk/efo/EFO_0003595 node CL_0002618 endothelial cell of umbilical vein null http://purl.obolibrary.org/obo/CL_0002618 node EFO_0007054 microsatellite instability measurement null http://www.ebi.ac.uk/efo/EFO_0007054 node HP_0000348 High forehead null http://purl.obolibrary.org/obo/HP_0000348 node CL_0002004 CD34-negative, GlyA-negative proerythroblast Cell surface markers are associated with human cells. http://purl.obolibrary.org/obo/CL_0002004 node EFO_1000914 empty sella syndrome null http://www.ebi.ac.uk/efo/EFO_1000914 node EFO_0007336 Langerhans cell sarcoma null http://www.ebi.ac.uk/efo/EFO_0007336 node Orphanet_352737 Temperature-sensitive oculocutaneous albinism type 1 null http://www.orpha.net/ORDO/Orphanet_352737 node EFO_1000727 lipodystrophy null http://www.ebi.ac.uk/efo/EFO_1000727 node Orphanet_477 KID syndrome Editor note: Orphanet classifies as both AD and AR http://www.orpha.net/ORDO/Orphanet_477 node EFO_0000283 behavioral stimulus null http://www.ebi.ac.uk/efo/EFO_0000283 node Orphanet_320385 Autosomal recessive spastic paraplegia type 49 null http://www.orpha.net/ORDO/Orphanet_320385 node CLO_0031274 GM14476 null http://purl.obolibrary.org/obo/CLO_0031274 node CHEBI_64563 lysophosphatidylcholine 16:0 null http://purl.obolibrary.org/obo/CHEBI_64563 node NCBITaxon_31271 Plasmodium chabaudi chabaudi null http://purl.obolibrary.org/obo/NCBITaxon_31271 node EFO_0003496 obsolete_olfactory pit null http://www.ebi.ac.uk/efo/EFO_0003496 node EFO_0007142 Alphavirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007142 node Orphanet_88644 Autosomal recessive ataxia, Beauce type null http://www.orpha.net/ORDO/Orphanet_88644 node MONDO_0018865 striate palmoplantar keratoderma null http://purl.obolibrary.org/obo/MONDO_0018865 node EFO_1000391 Nasal Cavity Polyp null http://www.ebi.ac.uk/efo/EFO_1000391 node EFO_0002977 ILSXISS19/TejJ null http://www.ebi.ac.uk/efo/EFO_0002977 node Orphanet_636 Neurofibromatosis type 1 null http://www.orpha.net/ORDO/Orphanet_636 node HP_0001761 Pes cavus null http://purl.obolibrary.org/obo/HP_0001761 node MONDO_0016275 adenocarcinoma of cervix uteri null http://purl.obolibrary.org/obo/MONDO_0016275 node CLO_0013138 GM17294 null http://purl.obolibrary.org/obo/CLO_0013138 node Orphanet_99104 Atrial septal defect, coronary sinus type null http://www.orpha.net/ORDO/Orphanet_99104 node UBERON_0002165 endocardium fixed in GO to reflect FMA. See email to David/Varsha June 18 2010 http://purl.obolibrary.org/obo/UBERON_0002165 node UBERON_0001238 lamina propria of small intestine null http://purl.obolibrary.org/obo/UBERON_0001238 node EFO_0000371 obsolete_congenital bilateral absence of the vas deferens null http://www.ebi.ac.uk/efo/EFO_0000371 node EFO_0009594 irritability measurement null http://www.ebi.ac.uk/efo/EFO_0009594 node Orphanet_399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin null http://www.orpha.net/ORDO/Orphanet_399983 node EFO_1001052 myeloid sarcoma null http://www.ebi.ac.uk/efo/EFO_1001052 node Orphanet_217607 Familial dilated cardiomyopathy Editor note: unsure if GARD is familial form http://www.orpha.net/ORDO/Orphanet_217607 node EFO_0000184 obsolete_infiltrating ductal carcinoma Made obsolete: considered as synonym to invasive ductal carcinoma http://www.ebi.ac.uk/efo/EFO_0000184 node EFO_0007230 cyclosporiasis null http://www.ebi.ac.uk/efo/EFO_0007230 node Orphanet_289560 Neurodegeneration with brain iron accumulation due to C19orf12 mutation null http://www.orpha.net/ORDO/Orphanet_289560 node EFO_0001176 HCC202 null http://www.ebi.ac.uk/efo/EFO_0001176 node NCBITaxon_1927 Streptomyces rimosus null http://purl.obolibrary.org/obo/NCBITaxon_1927 node CHEBI_61695 L-prolylglycine null http://purl.obolibrary.org/obo/CHEBI_61695 node Orphanet_172 Progressive familial intrahepatic cholestasis null http://www.orpha.net/ORDO/Orphanet_172 node CHEBI_27897 tryptophan null http://purl.obolibrary.org/obo/CHEBI_27897 node EFO_0002163 DMS153 null http://www.ebi.ac.uk/efo/EFO_0002163 node EFO_0001236 SKBR3 null http://www.ebi.ac.uk/efo/EFO_0001236 node Orphanet_183637 Rare genetic adrenal disease null http://www.orpha.net/ORDO/Orphanet_183637 node EFO_0009011 Arteritis null http://www.ebi.ac.uk/efo/EFO_0009011 node EFO_0000652 obsolete_phenotypic factor phenotype is synonymous with quality http://www.ebi.ac.uk/efo/EFO_0000652 node EFO_0001059 cataract null http://www.ebi.ac.uk/efo/EFO_0001059 node MONDO_0000883 myeloid neoplasms associated with PDGFRB rearrangement null http://purl.obolibrary.org/obo/MONDO_0000883 node CHEBI_18145 (+)-alpha-tocopherol null http://purl.obolibrary.org/obo/CHEBI_18145 node NCBITaxon_221654 Palaemonetes pugio null http://purl.obolibrary.org/obo/NCBITaxon_221654 node EFO_0000060 CS57677 null http://www.ebi.ac.uk/efo/EFO_0000060 node Orphanet_163708 Cryptogenic late-onset epileptic spasms null http://www.orpha.net/ORDO/Orphanet_163708 node EFO_0003912 ankle brachial index null http://www.ebi.ac.uk/efo/EFO_0003912 node CL_0000843 follicular B cell Follicular B cells are also reportedly CD48-positive, CD84-positive, CD229-positive, and CD352-positive. http://purl.obolibrary.org/obo/CL_0000843 node EFO_0004045 CB88 null http://www.ebi.ac.uk/efo/EFO_0004045 node EFO_0002251 NCI-H1355 null http://www.ebi.ac.uk/efo/EFO_0002251 node EFO_0001324 obsolete_Drosophila melanogaster strain null http://www.ebi.ac.uk/efo/EFO_0001324 node HP_0030096 Abnormal muscle fiber dystrophin expression null http://purl.obolibrary.org/obo/HP_0030096 node CHEBI_44897 phosphoenolpyruvic acid null http://purl.obolibrary.org/obo/CHEBI_44897 node EFO_0001147 GM12716 null http://www.ebi.ac.uk/efo/EFO_0001147 node MONDO_0000766 corneal endothelial dystrophy null http://purl.obolibrary.org/obo/MONDO_0000766 node HP_0011999 Paranoia null http://purl.obolibrary.org/obo/HP_0011999 node Orphanet_314647 Non-progressive cerebellar ataxia with intellectual disability null http://www.orpha.net/ORDO/Orphanet_314647 node Orphanet_1326 Camptodactyly syndrome, Guadalajara type 2 null http://www.orpha.net/ORDO/Orphanet_1326 node Orphanet_100998 Autosomal dominant spastic paraplegia type 17 null http://www.orpha.net/ORDO/Orphanet_100998 node EFO_0003105 spina bifida null http://www.ebi.ac.uk/efo/EFO_0003105 node Orphanet_95429 Angioma serpiginosum null http://www.orpha.net/ORDO/Orphanet_95429 node Orphanet_1724 Mosaic trisomy 20 null http://www.orpha.net/ORDO/Orphanet_1724 node Orphanet_309331 Intermediate severe Salla disease null http://www.orpha.net/ORDO/Orphanet_309331 node Orphanet_1547 Cryptomicrotia - brachydactyly - excess fingertip arch null http://www.orpha.net/ORDO/Orphanet_1547 node Orphanet_93329 Autosomal recessive omodysplasia null http://www.orpha.net/ORDO/Orphanet_93329 node EFO_0005805 polycythemia due to hypoxia null http://www.ebi.ac.uk/efo/EFO_0005805 node UBERON_2000284 subopercle null http://purl.obolibrary.org/obo/UBERON_2000284 node EFO_0010248 spinocerebellar ataxia, autosomal recessive, 27 null http://www.ebi.ac.uk/efo/EFO_0010248 node EFO_0007525 tricuspid valve stenosis null http://www.ebi.ac.uk/efo/EFO_0007525 node Orphanet_1227 Bangstad syndrome null http://www.orpha.net/ORDO/Orphanet_1227 node Orphanet_1812 Ectodermal dysplasia - intellectual disability - central nervous system malformation null http://www.orpha.net/ORDO/Orphanet_1812 node CHEBI_15978 sn-glycerol 3-phosphate null http://purl.obolibrary.org/obo/CHEBI_15978 node Orphanet_3294 Extensor tendons of finger anomalies null http://www.orpha.net/ORDO/Orphanet_3294 node GO_0006725 cellular aromatic compound metabolic process null http://purl.obolibrary.org/obo/GO_0006725 node MONDO_0029134 severe combined immunodeficiency due to CARMIL2 deficiency null http://purl.obolibrary.org/obo/MONDO_0029134 node CLO_0028397 ND01173 null http://purl.obolibrary.org/obo/CLO_0028397 node CHEBI_28077 rifampicin null http://purl.obolibrary.org/obo/CHEBI_28077 node EFO_0010336 transverse temporal cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010336 node CL_0000914 immature NK T cell null http://purl.obolibrary.org/obo/CL_0000914 node NCBITaxon_63577 Trichoderma atroviride null http://purl.obolibrary.org/obo/NCBITaxon_63577 node EFO_0005706 Mel-2183 null http://www.ebi.ac.uk/efo/EFO_0005706 node NCBITaxon_79327 Schmidtea mediterranea null http://purl.obolibrary.org/obo/NCBITaxon_79327 node EFO_0010149 pepsinogen I/II ratio null http://www.ebi.ac.uk/efo/EFO_0010149 node EFO_0008375 macula measurement null http://www.ebi.ac.uk/efo/EFO_0008375 node CL_0000047 neuronal stem cell null http://purl.obolibrary.org/obo/CL_0000047 node GO_0061041 regulation of wound healing null http://purl.obolibrary.org/obo/GO_0061041 node Orphanet_99672 Fried's tooth and nail syndrome null http://www.orpha.net/ORDO/Orphanet_99672 node EFO_0002950 pregnancy null http://www.ebi.ac.uk/efo/EFO_0002950 node MONDO_0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age null http://purl.obolibrary.org/obo/MONDO_0030029 node CHEBI_38211 potassium bromate null http://purl.obolibrary.org/obo/CHEBI_38211 node MONDO_0009815 autosomal recessive osteopetrosis 1 null http://purl.obolibrary.org/obo/MONDO_0009815 node EFO_0008640 3'T-fill null http://www.ebi.ac.uk/efo/EFO_0008640 node NCBITaxon_447426 human oral metagenome null http://purl.obolibrary.org/obo/NCBITaxon_447426 node EFO_0008463 glucagon measurement null http://www.ebi.ac.uk/efo/EFO_0008463 node Orphanet_263508 COG1-CDG null http://www.orpha.net/ORDO/Orphanet_263508 node Orphanet_66628 Obesity due to congenital leptin deficiency null http://www.orpha.net/ORDO/Orphanet_66628 node Orphanet_282166 Inherited Creutzfeldt-Jakob disease null http://www.orpha.net/ORDO/Orphanet_282166 node EFO_0000841 obsolete_small intestine null http://www.ebi.ac.uk/efo/EFO_0000841 node Orphanet_98579 Congenital upper palpebral retraction null http://www.orpha.net/ORDO/Orphanet_98579 node EFO_1001369 Meningomyelocele null http://www.ebi.ac.uk/efo/EFO_1001369 node Orphanet_2601 Myopathy - growth delay - intellectual disability - hypospadias null http://www.orpha.net/ORDO/Orphanet_2601 node EFO_0009319 F123-CASTx129 null http://www.ebi.ac.uk/efo/EFO_0009319 node EFO_0005799 neonatal abstinence syndrome null http://www.ebi.ac.uk/efo/EFO_0005799 node HP_0008316 Abnormal mitochondria in muscle tissue This finding is typically demonstrated by muscle biopsy. http://purl.obolibrary.org/obo/HP_0008316 node Orphanet_319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency null http://www.orpha.net/ORDO/Orphanet_319574 node EFO_0001032 transcription profiling null http://www.ebi.ac.uk/efo/EFO_0001032 node Orphanet_98667 Disease predisposing to age-related macular degeneration null http://www.orpha.net/ORDO/Orphanet_98667 node MONDO_0014260 immunodeficiency, common variable, 10 null http://purl.obolibrary.org/obo/MONDO_0014260 node NCBITaxon_45629 Desulfovibrio halophilus null http://purl.obolibrary.org/obo/NCBITaxon_45629 node EFO_0001921 obsolete_extraocular muscle null http://www.ebi.ac.uk/efo/EFO_0001921 node EFO_1001457 cognitive disorder null http://www.ebi.ac.uk/efo/EFO_1001457 node EFO_0000589 metabolic disease null http://www.ebi.ac.uk/efo/EFO_0000589 node NCBITaxon_28097 Ralstonia syzygii null http://purl.obolibrary.org/obo/NCBITaxon_28097 node EFO_0001734 data analyst null http://www.ebi.ac.uk/efo/EFO_0001734 node Orphanet_206966 Mitochondrial myopathy null http://www.orpha.net/ORDO/Orphanet_206966 node MONDO_0032904 corneal dystrophy, Meesmann, 2 null http://purl.obolibrary.org/obo/MONDO_0032904 node NCBITaxon_88036 Selaginella moellendorffii null http://purl.obolibrary.org/obo/NCBITaxon_88036 node EFO_0001120 GM11832 null http://www.ebi.ac.uk/efo/EFO_0001120 node EFO_0009164 mental retardation, autosomal dominant 54 null http://www.ebi.ac.uk/efo/EFO_0009164 node MONDO_0015819 indolent primary cutaneous B-cell lymphoma null http://purl.obolibrary.org/obo/MONDO_0015819 node UBERON_2001118 urogenital papilla null http://purl.obolibrary.org/obo/UBERON_2001118 node EFO_0004720 prion disease Editor note: check relationship to spongiform encephalopathy NCIT:C27585 http://www.ebi.ac.uk/efo/EFO_0004720 node Orphanet_140944 CLOVE syndrome null http://www.orpha.net/ORDO/Orphanet_140944 node EFO_0008623 dysthymic disorder null http://www.ebi.ac.uk/efo/EFO_0008623 node UBERON_0001017 central nervous system null http://purl.obolibrary.org/obo/UBERON_0001017 node CL_0000996 mature CD11c-negative plasmacytoid dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000009)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0000996 node MONDO_0004730 speech disorder null http://purl.obolibrary.org/obo/MONDO_0004730 node Orphanet_929 Achalasia - microcephaly null http://www.orpha.net/ORDO/Orphanet_929 node MONDO_0044327 polycystic liver disease 4 with or without kidney cysts null http://purl.obolibrary.org/obo/MONDO_0044327 node Orphanet_295189 Zygodactyly type 2 null http://www.orpha.net/ORDO/Orphanet_295189 node Orphanet_239 Dyggve-Melchior-Clausen disease null http://www.orpha.net/ORDO/Orphanet_239 node EFO_1000605 Undifferentiated Ovarian Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000605 node EFO_0003627 obsolete_pharyngeal pouch null http://www.ebi.ac.uk/efo/EFO_0003627 node EFO_0010221 systemising measurement null http://www.ebi.ac.uk/efo/EFO_0010221 node CHEBI_35469 antidepressant null http://purl.obolibrary.org/obo/CHEBI_35469 node MONDO_0004951 susceptibility to HIV infection null http://purl.obolibrary.org/obo/MONDO_0004951 node Orphanet_231013 Congenital trigeminal anesthesia null http://www.orpha.net/ORDO/Orphanet_231013 node CHEBI_27470 folic acid null http://purl.obolibrary.org/obo/CHEBI_27470 node EFO_0010702 opioid use disorder null http://www.ebi.ac.uk/efo/EFO_0010702 node FBbt_00005504 small intestine primordium null http://purl.obolibrary.org/obo/FBbt_00005504 node EFO_1000418 Ovarian Endometriosis null http://www.ebi.ac.uk/efo/EFO_1000418 node HP_0001288 Gait disturbance If possible, this term should not be used for new annotations. Rather, a more specific term should be sought. http://purl.obolibrary.org/obo/HP_0001288 node EFO_0010515 organic cation measurement null http://www.ebi.ac.uk/efo/EFO_0010515 node MONDO_0011973 zinc deficiency, transient neonatal null http://purl.obolibrary.org/obo/MONDO_0011973 node EFO_0010338 obsolete_follicular lymphoma null http://www.ebi.ac.uk/efo/EFO_0010338 node HP_0012719 Functional abnormality of the gastrointestinal tract null http://purl.obolibrary.org/obo/HP_0012719 node NCBITaxon_9612 Canis lupus null http://purl.obolibrary.org/obo/NCBITaxon_9612 node EFO_0010923 pentraxin-related protein PTX3 measurement null http://www.ebi.ac.uk/efo/EFO_0010923 node UBERON_0002114 duodenum null http://purl.obolibrary.org/obo/UBERON_0002114 node NCBITaxon_3483 Cannabis sativa null http://purl.obolibrary.org/obo/NCBITaxon_3483 node EFO_1000212 Cutaneous Undifferentiated Pleomorphic Sarcoma null http://www.ebi.ac.uk/efo/EFO_1000212 node EFO_0005389 KARPAS 231 null http://www.ebi.ac.uk/efo/EFO_0005389 node PO_0020030 cotyledon A seed leaf; the first leaf formed in a seed. http://purl.obolibrary.org/obo/PO_0020030 node Orphanet_99000 Adult-onset foveomacular vitelliform dystrophy null http://www.orpha.net/ORDO/Orphanet_99000 node EFO_0003715 obsolete_liver (Macaca fascicularis) null http://www.ebi.ac.uk/efo/EFO_0003715 node Orphanet_327 Congenital factor VII deficiency null http://www.orpha.net/ORDO/Orphanet_327 node EFO_0006561 CX-1 null http://www.ebi.ac.uk/efo/EFO_0006561 node EFO_0000133 CS57825 null http://www.ebi.ac.uk/efo/EFO_0000133 node EFO_1000025 cystitis null http://www.ebi.ac.uk/efo/EFO_1000025 node CHEBI_17351 linoleic acid null http://purl.obolibrary.org/obo/CHEBI_17351 node Orphanet_1035 Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria null http://www.orpha.net/ORDO/Orphanet_1035 node EFO_1000506 Rectal Villous Adenoma null http://www.ebi.ac.uk/efo/EFO_1000506 node EFO_0004455 cot filtration null http://www.ebi.ac.uk/efo/EFO_0004455 node EFO_0003528 obsolete_retroarticular null http://www.ebi.ac.uk/efo/EFO_0003528 node EFO_0006384 COV434 null http://www.ebi.ac.uk/efo/EFO_0006384 node EFO_0000062 CS57692 null http://www.ebi.ac.uk/efo/EFO_0000062 node EFO_1000329 Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes null http://www.ebi.ac.uk/efo/EFO_1000329 node EFO_0010603 cancer antigen 125 measurement null http://www.ebi.ac.uk/efo/EFO_0010603 node GO_0002694 regulation of leukocyte activation null http://purl.obolibrary.org/obo/GO_0002694 node Orphanet_51 Aicardi-Goutières syndrome null http://www.orpha.net/ORDO/Orphanet_51 node EFO_0009986 RNA-DNA SPRITE null http://www.ebi.ac.uk/efo/EFO_0009986 node EFO_0006760 SNU-719 null http://www.ebi.ac.uk/efo/EFO_0006760 node CLO_0016505 GM17806 null http://purl.obolibrary.org/obo/CLO_0016505 node Orphanet_85194 Spondylo-ocular syndrome null http://www.orpha.net/ORDO/Orphanet_85194 node MONDO_0018538 inherited digestive cancer-predisposing syndrome null http://purl.obolibrary.org/obo/MONDO_0018538 node MONDO_0003688 well differentiated papillary mesothelioma null http://purl.obolibrary.org/obo/MONDO_0003688 node BTO_0004298 corneal epithelial cell null http://purl.obolibrary.org/obo/BTO_0004298 node MONDO_0016744 primary melanocytic tumor of central nervous system null http://purl.obolibrary.org/obo/MONDO_0016744 node CL_0002472 MHC-II-low non-classical monocyte null http://purl.obolibrary.org/obo/CL_0002472 node CHEBI_61938 gamma-carboxy-L-glutamic acid zwitterion(2-) null http://purl.obolibrary.org/obo/CHEBI_61938 node MONDO_0016054 cerebral malformation null http://purl.obolibrary.org/obo/MONDO_0016054 node NCBITaxon_5334 Schizophyllum commune null http://purl.obolibrary.org/obo/NCBITaxon_5334 node EFO_1000113 Benign Ovarian Endometrioid Tumor null http://www.ebi.ac.uk/efo/EFO_1000113 node Orphanet_391392 Familial episodic pain syndrome with predominantly lower limb involvement null http://www.orpha.net/ORDO/Orphanet_391392 node Orphanet_183484 Genetic subcutaneous tissue disorder null http://www.orpha.net/ORDO/Orphanet_183484 node NCBITaxon_5147 Sordaria macrospora null http://purl.obolibrary.org/obo/NCBITaxon_5147 node MONDO_0021353 tumor of uterus null http://purl.obolibrary.org/obo/MONDO_0021353 node Orphanet_284963 Marfan syndrome type 1 null http://www.orpha.net/ORDO/Orphanet_284963 node Orphanet_47159 Proximal renal tubular acidosis null http://www.orpha.net/ORDO/Orphanet_47159 node EFO_0006285 MEC2 null http://www.ebi.ac.uk/efo/EFO_0006285 node Orphanet_108973 Syndromic visceral malformation null http://www.orpha.net/ORDO/Orphanet_108973 node OBI_0400105 arrayer null http://purl.obolibrary.org/obo/OBI_0400105 node MONDO_0003295 leiomyomatosis null http://purl.obolibrary.org/obo/MONDO_0003295 node NCBITaxon_6941 Rhipicephalus microplus null http://purl.obolibrary.org/obo/NCBITaxon_6941 node HP_0040175 Platelet-activating factor acetylhydrolase deficiency null http://purl.obolibrary.org/obo/HP_0040175 node NCBITaxon_29916 Fusarium sp. null http://purl.obolibrary.org/obo/NCBITaxon_29916 node NCBITaxon_519 Bordetella parapertussis null http://purl.obolibrary.org/obo/NCBITaxon_519 node GO_0050729 positive regulation of inflammatory response null http://purl.obolibrary.org/obo/GO_0050729 node MONDO_0000387 hypochromic microcytic anemia (disease) null http://purl.obolibrary.org/obo/MONDO_0000387 node NCBITaxon_29729 Gossypium arboreum null http://purl.obolibrary.org/obo/NCBITaxon_29729 node MONDO_0007966 susceptibility to uveal melanoma null http://purl.obolibrary.org/obo/MONDO_0007966 node NCBITaxon_487 Neisseria meningitidis null http://purl.obolibrary.org/obo/NCBITaxon_487 node Orphanet_352447 Progressive external ophthalmoplegia - myopathy - emaciation null http://www.orpha.net/ORDO/Orphanet_352447 node MONDO_0003196 appendix carcinoma null http://purl.obolibrary.org/obo/MONDO_0003196 node EFO_0008289 SPARC-like protein 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008289 node HP_0012210 Abnormal renal morphology null http://purl.obolibrary.org/obo/HP_0012210 node Orphanet_169826 Congenital vitamin K-dependent coagulation factors deficiency null http://www.orpha.net/ORDO/Orphanet_169826 node EFO_0006433 HCC2688 null http://www.ebi.ac.uk/efo/EFO_0006433 node UBERON_0001291 thick ascending limb of loop of Henle null http://purl.obolibrary.org/obo/UBERON_0001291 node Orphanet_3459 Wilson-Turner syndrome null http://www.orpha.net/ORDO/Orphanet_3459 node Orphanet_169090 Combined immunodeficiency due to CRAC channel dysfunction null http://www.orpha.net/ORDO/Orphanet_169090 node GO_0044435 plastid part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0044435 node MONDO_0007573 acute erythroleukemia, familial null http://purl.obolibrary.org/obo/MONDO_0007573 node EFO_0008741 fCAB-Seq null http://www.ebi.ac.uk/efo/EFO_0008741 node CHEBI_77447 triacylglycerol 46:2 null http://purl.obolibrary.org/obo/CHEBI_77447 node EFO_0009399 subiculum volume null http://www.ebi.ac.uk/efo/EFO_0009399 node MONDO_0002256 cervix disease null http://purl.obolibrary.org/obo/MONDO_0002256 node EFO_0008377 mosquito bite reaction itch intensity measurement null http://www.ebi.ac.uk/efo/EFO_0008377 node EFO_0008858 PE RAD-Seq null http://www.ebi.ac.uk/efo/EFO_0008858 node EFO_0003797 interleukin-13 (Homo sapiens) null http://www.ebi.ac.uk/efo/EFO_0003797 node EFO_1000692 epidermolysis bullosa dystrophica null http://www.ebi.ac.uk/efo/EFO_1000692 node MONDO_0002050 depressive disorder null http://purl.obolibrary.org/obo/MONDO_0002050 node EFO_0008642 3’NT method null http://www.ebi.ac.uk/efo/EFO_0008642 node EFO_0000644 pathogen test null http://www.ebi.ac.uk/efo/EFO_0000644 node HP_0002904 Hyperbilirubinemia null http://purl.obolibrary.org/obo/HP_0002904 node EFO_1000996 iris cancer null http://www.ebi.ac.uk/efo/EFO_1000996 node EFO_0008465 glucagon-like peptide-1 measurement null http://www.ebi.ac.uk/efo/EFO_0008465 node EFO_1001148 relapsing polychondritis null http://www.ebi.ac.uk/efo/EFO_1001148 node EFO_0002928 International Unit per milliliter null http://www.ebi.ac.uk/efo/EFO_0002928 node MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome null http://purl.obolibrary.org/obo/MONDO_0019042 node Orphanet_3331 Bowed tibiae - radial anomalies - osteopenia - fractures null http://www.orpha.net/ORDO/Orphanet_3331 node Orphanet_79101 Hyperprolinemia type 2 null http://www.orpha.net/ORDO/Orphanet_79101 node EFO_0005578 pituitary cancer null http://www.ebi.ac.uk/efo/EFO_0005578 node CHEBI_35718 antifungal drug null http://purl.obolibrary.org/obo/CHEBI_35718 node CLO_0013793 GM17191 null http://purl.obolibrary.org/obo/CLO_0013793 node CLO_0016995 GM17733 null http://purl.obolibrary.org/obo/CLO_0016995 node MONDO_0002028 personality disorder (disease) null http://purl.obolibrary.org/obo/MONDO_0002028 node Orphanet_3144 Schneckenbecken dysplasia null http://www.orpha.net/ORDO/Orphanet_3144 node HANCESTRO_0438 Iranian null http://purl.obolibrary.org/obo/HANCESTRO_0438 node UO_0000031 minute null http://purl.obolibrary.org/obo/UO_0000031 node Orphanet_254346 19p13.12 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_254346 node EFO_1000780 autoimmune pancreatitis type 1 null http://www.ebi.ac.uk/efo/EFO_1000780 node EFO_0008066 carbohydrate sulfotransferase 15 measurement null http://www.ebi.ac.uk/efo/EFO_0008066 node EFO_0010672 blood vessel replacement null http://www.ebi.ac.uk/efo/EFO_0010672 node EFO_1000593 Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation null http://www.ebi.ac.uk/efo/EFO_1000593 node Orphanet_98259 Childhood-onset epilepsy syndrome This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. http://www.orpha.net/ORDO/Orphanet_98259 node Orphanet_123 Björnstad syndrome null http://www.orpha.net/ORDO/Orphanet_123 node EFO_0000368 minor histocompatibility congenic strain null http://www.ebi.ac.uk/efo/EFO_0000368 node EFO_0002464 obsolete_hair follicle null http://www.ebi.ac.uk/efo/EFO_0002464 node CLO_0013881 GM17207 null http://purl.obolibrary.org/obo/CLO_0013881 node MONDO_0002116 malignant exocrine pancreas neoplasm null http://purl.obolibrary.org/obo/MONDO_0002116 node EFO_1001049 obsolete_mucoepidermoid tumor null http://www.ebi.ac.uk/efo/EFO_1001049 node GO_0005622 intracellular null http://purl.obolibrary.org/obo/GO_0005622 node EFO_0005479 Z-138 null http://www.ebi.ac.uk/efo/EFO_0005479 node HP_0100601 Eclampsia null http://purl.obolibrary.org/obo/HP_0100601 node EFO_0002277 NCI-H2087 null http://www.ebi.ac.uk/efo/EFO_0002277 node CHEBI_33216 bisphenol A null http://purl.obolibrary.org/obo/CHEBI_33216 node Orphanet_502444 alkaline ceramidase 3 deficiency null http://www.orpha.net/ORDO/Orphanet_502444 node Orphanet_1192 Atherosclerosis - deafness - diabetes - epilepsy - nephropathy null http://www.orpha.net/ORDO/Orphanet_1192 node EFO_0008154 hepatocyte growth factor-like protein measurement null http://www.ebi.ac.uk/efo/EFO_0008154 node MONDO_0003441 dystonic disorder null http://purl.obolibrary.org/obo/MONDO_0003441 node EFO_0010760 4E-BP1 measurement null http://www.ebi.ac.uk/efo/EFO_0010760 node MONDO_0017287 IgG4-related disease null http://purl.obolibrary.org/obo/MONDO_0017287 node EFO_0009856 lichen planopilaris null http://www.ebi.ac.uk/efo/EFO_0009856 node EFO_0002365 SW1990 null http://www.ebi.ac.uk/efo/EFO_0002365 node CHEBI_29365 phosgene null http://purl.obolibrary.org/obo/CHEBI_29365 node Orphanet_306516 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis null http://www.orpha.net/ORDO/Orphanet_306516 node Orphanet_404 Familial hyperaldosteronism type II null http://www.orpha.net/ORDO/Orphanet_404 node MONDO_0015144 brain inflammatory disease null http://purl.obolibrary.org/obo/MONDO_0015144 node CHEBI_38786 phosmet null http://purl.obolibrary.org/obo/CHEBI_38786 node Orphanet_96171 Ring chromosome 2 null http://www.orpha.net/ORDO/Orphanet_96171 node EFO_0004333 episodic memory null http://www.ebi.ac.uk/efo/EFO_0004333 node EFO_0003406 obsolete_embryonic proventriculus intermediate layer null http://www.ebi.ac.uk/efo/EFO_0003406 node Orphanet_261965 Partial monosomy of the short arm of chromosome 17 null http://www.orpha.net/ORDO/Orphanet_261965 node EFO_0010000 JBP1-seq null http://www.ebi.ac.uk/efo/EFO_0010000 node CHEBI_36165 pimelate(2-) null http://purl.obolibrary.org/obo/CHEBI_36165 node EFO_0005649 spondylolysis null http://www.ebi.ac.uk/efo/EFO_0005649 node Orphanet_93302 Brachyolmia, Maroteaux type null http://www.orpha.net/ORDO/Orphanet_93302 node PO_0020131 lateral root cap This is the general term for the lateral portion of any root cap and not the term for a root cap of lateral root (PO:0003018) or lateral root cap of lateral root (PO:0003020). http://purl.obolibrary.org/obo/PO_0020131 node EFO_0004146 obsolete_central core myopathy null http://www.ebi.ac.uk/efo/EFO_0004146 node NCBITaxon_1894 Streptomyces aureofaciens null http://purl.obolibrary.org/obo/NCBITaxon_1894 node CL_0000780 multinuclear odontoclast Morphology: multinucleated, highly vesicular; location: roots of deciduous (milk) teeth. http://purl.obolibrary.org/obo/CL_0000780 node CLO_0014022 GM17170 null http://purl.obolibrary.org/obo/CLO_0014022 node Orphanet_1200 Choanal atresia-deafness-cardiac defects-dysmorphism syndrome null http://www.orpha.net/ORDO/Orphanet_1200 node GO_0009119 ribonucleoside metabolic process null http://purl.obolibrary.org/obo/GO_0009119 node NCBITaxon_65672 Piriformospora indica null http://purl.obolibrary.org/obo/NCBITaxon_65672 node CHEBI_15366 acetic acid null http://purl.obolibrary.org/obo/CHEBI_15366 node Orphanet_177107 Syndromic hypothyroidism null http://www.orpha.net/ORDO/Orphanet_177107 node EFO_0005360 CCD-11Lu null http://www.ebi.ac.uk/efo/EFO_0005360 node Orphanet_96072 4p16.3 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_96072 node EFO_0004234 erectile dysfunction null http://www.ebi.ac.uk/efo/EFO_0004234 node EFO_0007080 HUES3 null http://www.ebi.ac.uk/efo/EFO_0007080 node Orphanet_99885 Permanent neonatal diabetes mellitus null http://www.orpha.net/ORDO/Orphanet_99885 node MONDO_0021120 functioning endocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0021120 node MONDO_0019624 acquired angioedema null http://purl.obolibrary.org/obo/MONDO_0019624 node EFO_0006563 DEOC-1 null http://www.ebi.ac.uk/efo/EFO_0006563 node PATO_0001869 pathological null http://purl.obolibrary.org/obo/PATO_0001869 node UBERON_0003061 blood island null http://purl.obolibrary.org/obo/UBERON_0003061 node CLO_0014408 GM17248 null http://purl.obolibrary.org/obo/CLO_0014408 node Orphanet_404560 Familial atypical multiple mole melanoma syndrome null http://www.orpha.net/ORDO/Orphanet_404560 node Orphanet_295138 Symbrachydactyly of hand and foot, bilateral null http://www.orpha.net/ORDO/Orphanet_295138 node EFO_0005084 Illumina Genome Analyzer IIx standard manufacturer's protocol null http://www.ebi.ac.uk/efo/EFO_0005084 node CLO_0034780 AG04147 null http://purl.obolibrary.org/obo/CLO_0034780 node UBERON_4000164 caudal fin null http://purl.obolibrary.org/obo/UBERON_4000164 node EFO_0008892 RiboMeth-seq null http://www.ebi.ac.uk/efo/EFO_0008892 node Orphanet_309185 Tay-Sachs disease, B variant, juvenile form null http://www.orpha.net/ORDO/Orphanet_309185 node EFO_0004404 Theiler stage 13 null http://www.ebi.ac.uk/efo/EFO_0004404 node Orphanet_79492 Pili gemini null http://www.orpha.net/ORDO/Orphanet_79492 node EFO_0006287 Mono Mac 6 null http://www.ebi.ac.uk/efo/EFO_0006287 node MONDO_0000647 benign vaginal neoplasm null http://purl.obolibrary.org/obo/MONDO_0000647 node EFO_0000514 germ cell tumor null http://www.ebi.ac.uk/efo/EFO_0000514 node CLO_0017024 GM17743 null http://purl.obolibrary.org/obo/CLO_0017024 node Orphanet_206704 Bulbospinal muscular atrophy of children null http://www.orpha.net/ORDO/Orphanet_206704 node UBERON_0000483 epithelium null http://purl.obolibrary.org/obo/UBERON_0000483 node Orphanet_486 Autosomal dominant severe congenital neutropenia null http://www.orpha.net/ORDO/Orphanet_486 node Orphanet_293621 X-linked endothelial corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_293621 node EFO_0003874 flatfoot null http://www.ebi.ac.uk/efo/EFO_0003874 node CHEBI_82912 N-(2-furoyl)glycine null http://purl.obolibrary.org/obo/CHEBI_82912 node EFO_0007777 base metabolic rate measurement null http://www.ebi.ac.uk/efo/EFO_0007777 node MONDO_0045043 disease of uterine broad ligament null http://purl.obolibrary.org/obo/MONDO_0045043 node MONDO_0024660 tubular adenoma null http://purl.obolibrary.org/obo/MONDO_0024660 node EFO_0007151 Arenavirus hemorrhagic fever null http://www.ebi.ac.uk/efo/EFO_0007151 node Orphanet_98640 Rare cataract null http://www.orpha.net/ORDO/Orphanet_98640 node EFO_0006610 KLM-1 null http://www.ebi.ac.uk/efo/EFO_0006610 node NCBITaxon_34305 Lotus japonicus null http://purl.obolibrary.org/obo/NCBITaxon_34305 node Orphanet_98934 Huntington disease-like 2 null http://www.orpha.net/ORDO/Orphanet_98934 node EFO_0010480 fumarate measurement null http://www.ebi.ac.uk/efo/EFO_0010480 node EFO_0009659 aneurysm null http://www.ebi.ac.uk/efo/EFO_0009659 node EFO_0003962 pulsed doppler echocardiography null http://www.ebi.ac.uk/efo/EFO_0003962 node Orphanet_101934 Genetic cardiac rhythm disease null http://www.orpha.net/ORDO/Orphanet_101934 node EFO_0007865 loneliness measurement null http://www.ebi.ac.uk/efo/EFO_0007865 node Orphanet_574 Monosomy 21 null http://www.orpha.net/ORDO/Orphanet_574 node MONDO_0000159 bone marrow failure syndrome Genetic heterogeneity of OMIM 614675 includes 615715. http://purl.obolibrary.org/obo/MONDO_0000159 node Orphanet_87876 sialidosis type II See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 http://www.orpha.net/ORDO/Orphanet_87876 node HP_0003111 Abnormal blood ion concentration null http://purl.obolibrary.org/obo/HP_0003111 node EFO_0007678 total fat intake measurement null http://www.ebi.ac.uk/efo/EFO_0007678 node HP_0001642 Pulmonic stenosis Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction. http://purl.obolibrary.org/obo/HP_0001642 node EFO_0008017 alcohol dehydrogenase [NADP+] measurement null http://www.ebi.ac.uk/efo/EFO_0008017 node HP_0005281 Hypoplastic nasal bridge null http://purl.obolibrary.org/obo/HP_0005281 node UBERON_0002373 palatine tonsil null http://purl.obolibrary.org/obo/UBERON_0002373 node EFO_1000471 Peutz-Jeghers Polyp of the Stomach null http://www.ebi.ac.uk/efo/EFO_1000471 node EFO_0008238 myeloid cell surface antigen CD33 measurement null http://www.ebi.ac.uk/efo/EFO_0008238 node EFO_0005743 CME-W1-Cl.8+ null http://www.ebi.ac.uk/efo/EFO_0005743 node MONDO_0004756 nasal cavity neoplasm null http://purl.obolibrary.org/obo/MONDO_0004756 node MONDO_0000424 inborn vitamin B12 deficiency (disease) null http://purl.obolibrary.org/obo/MONDO_0000424 node EFO_0008719 dRNA-Seq null http://www.ebi.ac.uk/efo/EFO_0008719 node EFO_0001918 obsolete_decidua basalis null http://www.ebi.ac.uk/efo/EFO_0001918 node Orphanet_98706 Oculocutaneous or ocular albinism null http://www.orpha.net/ORDO/Orphanet_98706 node EFO_0009020 Aymé-Gripp syndrome null http://www.ebi.ac.uk/efo/EFO_0009020 node MONDO_0015216 syndromic diaphragmatic or abdominal wall malformation null http://purl.obolibrary.org/obo/MONDO_0015216 node NCBITaxon_352164 Sphingomonas sp. NM05 null http://purl.obolibrary.org/obo/NCBITaxon_352164 node EFO_0002155 ChaGoK1 null http://www.ebi.ac.uk/efo/EFO_0002155 node EFO_0001228 R43 null http://www.ebi.ac.uk/efo/EFO_0001228 node EFO_1000449 Papillary Meningioma null http://www.ebi.ac.uk/efo/EFO_1000449 node EFO_0004398 Theiler stage 6 null http://www.ebi.ac.uk/efo/EFO_0004398 node EFO_0009911 hereditary nonpolyposis colorectal carcinoma null http://www.ebi.ac.uk/efo/EFO_0009911 node Orphanet_139441 Hypomyelination with atrophy of basal ganglia and cerebellum null http://www.orpha.net/ORDO/Orphanet_139441 node EFO_0008326 a disintegrin and metalloproteinase with thrombospondin motifs 5 measurement null http://www.ebi.ac.uk/efo/EFO_0008326 node EFO_0001061 cervical carcinoma null http://www.ebi.ac.uk/efo/EFO_0001061 node BTO_0001629 obsolete_left ventricle null http://purl.obolibrary.org/obo/BTO_0001629 node MONDO_0021539 hamartoma of skin appendage null http://purl.obolibrary.org/obo/MONDO_0021539 node Orphanet_261821 Partial deletion of the long arm of chromosome 12 null http://www.orpha.net/ORDO/Orphanet_261821 node HP_0006915 Inability to walk by childhood/adolescence null http://purl.obolibrary.org/obo/HP_0006915 node NCBITaxon_12139 Southern bean mosaic virus null http://purl.obolibrary.org/obo/NCBITaxon_12139 node EFO_1000056 obsolete_Wilms tumor(2) Please stop creating Wilms' tumor classes. This should really use Nephrablastoma! Second round of obsoletion yields error of non-unique class labels in EFO and it is confusing. http://www.ebi.ac.uk/efo/EFO_1000056 node EFO_0003559 obsolete_hair cell anterior macula null http://www.ebi.ac.uk/efo/EFO_0003559 node MONDO_0054845 developmental and epileptic encephalopathy, 66 null http://purl.obolibrary.org/obo/MONDO_0054845 node EFO_0002056 HaCaT null http://www.ebi.ac.uk/efo/EFO_0002056 node EFO_0007796 parental longevity null http://www.ebi.ac.uk/efo/EFO_0007796 node Orphanet_300 Bifunctional enzyme deficiency null http://www.orpha.net/ORDO/Orphanet_300 node EFO_1001862 urinary bladder fistula null http://www.ebi.ac.uk/efo/EFO_1001862 node EFO_0010080 geographic atrophy lesion growth null http://www.ebi.ac.uk/efo/EFO_0010080 node EFO_0008414 susceptibility to measles measurement null http://www.ebi.ac.uk/efo/EFO_0008414 node Orphanet_93360 Spondyloepimetaphyseal dysplasia with multiple dislocations null http://www.orpha.net/ORDO/Orphanet_93360 node EFO_1000758 punctate palmoplantar keratoderma type III Unclear as to whether this is inherited or acquired see https://github.com/Orphanet/ORDO/issues/3 http://www.ebi.ac.uk/efo/EFO_1000758 node GO_0006996 organelle organization null http://purl.obolibrary.org/obo/GO_0006996 node EFO_0000229 obsolete_adenohypophyseal placode null http://www.ebi.ac.uk/efo/EFO_0000229 node EFO_0010855 HG02938 null http://www.ebi.ac.uk/efo/EFO_0010855 node NCBITaxon_94323 Crassostrea ariakensis null http://purl.obolibrary.org/obo/NCBITaxon_94323 node MONDO_0044915 salivary duct carcinoma null http://purl.obolibrary.org/obo/MONDO_0044915 node EFO_0002619 obsolete_pituitary adenoma null http://www.ebi.ac.uk/efo/EFO_0002619 node EFO_0003093 obsolete_adrenocortical carcinoma null http://www.ebi.ac.uk/efo/EFO_0003093 node EFO_1001950 colon carcinoma null http://www.ebi.ac.uk/efo/EFO_1001950 node EFO_0004972 somatic genotype null http://www.ebi.ac.uk/efo/EFO_0004972 node CHEBI_28666 leukotriene D4 null http://purl.obolibrary.org/obo/CHEBI_28666 node EFO_1000365 Maxillary Sinus Adenoid Cystic Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000365 node Orphanet_95232 Lissencephaly due to LIS1 mutation null http://www.orpha.net/ORDO/Orphanet_95232 node NCBITaxon_158878 Staphylococcus aureus subsp. aureus Mu50 null http://purl.obolibrary.org/obo/NCBITaxon_158878 node Orphanet_284149 Craniosynostosis and dental anomalies null http://www.orpha.net/ORDO/Orphanet_284149 node GO_0046034 ATP metabolic process null http://purl.obolibrary.org/obo/GO_0046034 node CL_0000799 immature gamma-delta T cell Note that gamma-delta T cells have both thymic and extrathymic differentiation pathways. http://purl.obolibrary.org/obo/CL_0000799 node EFO_0000317 obsolete_cardiac ventricle null http://www.ebi.ac.uk/efo/EFO_0000317 node CL_0000818 transitional stage B cell This cell type is compatible with the HIPC Lyoplate markers for 'transitional B cell'. http://purl.obolibrary.org/obo/CL_0000818 node EFO_0010391 sphingomyelin 16:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010391 node MONDO_0021069 malignant endocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0021069 node EFO_0002226 LS1034 null http://www.ebi.ac.uk/efo/EFO_0002226 node EFO_0002707 NT-1 null http://www.ebi.ac.uk/efo/EFO_0002707 node MONDO_0001370 pericardial effusion (disease) null http://purl.obolibrary.org/obo/MONDO_0001370 node MONDO_0004346 signet ring cell intrahepatic cholangiocarcinoma null http://purl.obolibrary.org/obo/MONDO_0004346 node Orphanet_1573 Hypotrichosis with juvenile macular degeneration null http://www.orpha.net/ORDO/Orphanet_1573 node Orphanet_314041 Marfanoid habitus - inguinal hernia - advanced bone age null http://www.orpha.net/ORDO/Orphanet_314041 node MONDO_0018639 caudal regression-sirenomelia spectrum null http://purl.obolibrary.org/obo/MONDO_0018639 node CL_0000906 activated CD8-positive, alpha-beta T cell null http://purl.obolibrary.org/obo/CL_0000906 node EFO_0001696 area null http://www.ebi.ac.uk/efo/EFO_0001696 node EFO_0005035 hippocampal volume null http://www.ebi.ac.uk/efo/EFO_0005035 node EFO_0002314 RCHACV null http://www.ebi.ac.uk/efo/EFO_0002314 node Orphanet_53689 Congenital chloride diarrhea null http://www.orpha.net/ORDO/Orphanet_53689 node MONDO_0001933 endocrine pancreas disease null http://purl.obolibrary.org/obo/MONDO_0001933 node Orphanet_2151 Hirschsprung disease - ganglioneuroblastoma null http://www.orpha.net/ORDO/Orphanet_2151 node MONDO_0032677 lissencephaly 9 with complex brainstem malformation null http://purl.obolibrary.org/obo/MONDO_0032677 node CHEBI_50683 folic acid reductase inhibitor null http://purl.obolibrary.org/obo/CHEBI_50683 node MONDO_0014956 Chitayat syndrome null http://purl.obolibrary.org/obo/MONDO_0014956 node NCBITaxon_33125 Lepidium sativum null http://purl.obolibrary.org/obo/NCBITaxon_33125 node MONDO_0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures null http://purl.obolibrary.org/obo/MONDO_0010075 node PO_0007085 LP.14 fourteen leaves visible stage null http://purl.obolibrary.org/obo/PO_0007085 node NCBITaxon_141655 Cervus elaphus hispanicus null http://purl.obolibrary.org/obo/NCBITaxon_141655 node MONDO_0018727 immunodeficiency due to a complement regulatory deficiency null http://purl.obolibrary.org/obo/MONDO_0018727 node EFO_0001784 genotyping design null http://www.ebi.ac.uk/efo/EFO_0001784 node UBERON_0008896 post-hyoid pharyngeal arch null http://purl.obolibrary.org/obo/UBERON_0008896 node Orphanet_199337 Pancreatic insufficiency - anemia - hyperostosis null http://www.orpha.net/ORDO/Orphanet_199337 node EFO_1001881 cold urticaria null http://www.ebi.ac.uk/efo/EFO_1001881 node MONDO_0001834 visual pathway disease Editor note: see notes on uberon class, different sources are more or less inclusive on where the ends of the tract/pathway are. DO is very inclusive and includes entire visual cortex; NCIT does not include any subclasses. Consider using a more generic concept than optic tract http://purl.obolibrary.org/obo/MONDO_0001834 node MONDO_0018511 epithelial tumor of the appendix null http://purl.obolibrary.org/obo/MONDO_0018511 node MONDO_0001657 brain cancer null http://purl.obolibrary.org/obo/MONDO_0001657 node Orphanet_250984 Autosomal recessive Stickler syndrome null http://www.orpha.net/ORDO/Orphanet_250984 node Orphanet_93476 Hurler-Scheie syndrome null http://www.orpha.net/ORDO/Orphanet_93476 node EFO_0005100 obsolete_flag leaf null http://www.ebi.ac.uk/efo/EFO_0005100 node HP_0012207 Reduced sperm motility null http://purl.obolibrary.org/obo/HP_0012207 node NCBITaxon_37690 Citrus trifoliata null http://purl.obolibrary.org/obo/NCBITaxon_37690 node EFO_0008894 RICC-seq null http://www.ebi.ac.uk/efo/EFO_0008894 node UBERON_0001946 inferior colliculus null http://purl.obolibrary.org/obo/UBERON_0001946 node MONDO_0024351 familial pityriasis rubra pilaris Editor note: TODO axiomatize http://purl.obolibrary.org/obo/MONDO_0024351 node MONDO_0019471 adult T-cell leukemia/lymphoma null http://purl.obolibrary.org/obo/MONDO_0019471 node UBERON_0006238 future brain null http://purl.obolibrary.org/obo/UBERON_0006238 node EFO_0008097 complement factor H measurement null http://www.ebi.ac.uk/efo/EFO_0008097 node MONDO_0019294 mixed dermis disorder Editor note: check if genetic http://purl.obolibrary.org/obo/MONDO_0019294 node OBI_0000018 material supplier role null http://purl.obolibrary.org/obo/OBI_0000018 node EFO_0001930 obsolete_hypoblast null http://www.ebi.ac.uk/efo/EFO_0001930 node MONDO_0014821 complex lethal osteochondrodysplasia null http://purl.obolibrary.org/obo/MONDO_0014821 node EFO_0001240 SUM149PT null http://www.ebi.ac.uk/efo/EFO_0001240 node EFO_0008495 childhood supratentorial ependymoma null http://www.ebi.ac.uk/efo/EFO_0008495 node Orphanet_168612 Congenital deficiency in alpha-fetoprotein null http://www.orpha.net/ORDO/Orphanet_168612 node Orphanet_79166 Disorder of amino acid absorption and transport Editor note: consider changing to transport http://www.orpha.net/ORDO/Orphanet_79166 node MONDO_0002380 myoepithelial tumor null http://purl.obolibrary.org/obo/MONDO_0002380 node MONDO_0032913 congenital heart defects, multiple types, 7 null http://purl.obolibrary.org/obo/MONDO_0032913 node Orphanet_2398 Familial symmetric lipomatosis null http://www.orpha.net/ORDO/Orphanet_2398 node EFO_0008416 susceptibility to rheumatic fever measurement null http://www.ebi.ac.uk/efo/EFO_0008416 node Orphanet_369999 Diffuse palmoplantar keratoderma with painful fissures null http://www.orpha.net/ORDO/Orphanet_369999 node Orphanet_99735 Myotonia permanens null http://www.orpha.net/ORDO/Orphanet_99735 node EFO_0000797 obsolete_gland null http://www.ebi.ac.uk/efo/EFO_0000797 node Orphanet_140936 Lelis syndrome null http://www.orpha.net/ORDO/Orphanet_140936 node HP_0002986 Radial bowing null http://purl.obolibrary.org/obo/HP_0002986 node EFO_1000731 maxillary sinus cholesteatoma null http://www.ebi.ac.uk/efo/EFO_1000731 node MONDO_0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome null http://purl.obolibrary.org/obo/MONDO_0014704 node EFO_0008583 acute myocardial infarction null http://www.ebi.ac.uk/efo/EFO_0008583 node EFO_0009630 convalescence null http://www.ebi.ac.uk/efo/EFO_0009630 node Orphanet_270 Oculopharyngeal muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_270 node EFO_0002090 technical replicate null http://www.ebi.ac.uk/efo/EFO_0002090 node Orphanet_264200 14q22q23 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_264200 node Orphanet_2505 Multiple benign circumferential skin creases on limbs null http://www.orpha.net/ORDO/Orphanet_2505 node CL_0000988 hematopoietic cell null http://purl.obolibrary.org/obo/CL_0000988 node GO_1901362 organic cyclic compound biosynthetic process null http://purl.obolibrary.org/obo/GO_1901362 node HP_0100595 Camptocormia null http://purl.obolibrary.org/obo/HP_0100595 node EFO_0000904 obsolete_basal ganglion null http://www.ebi.ac.uk/efo/EFO_0000904 node EFO_0003823 obsolete_spinal muscular atrophy null http://www.ebi.ac.uk/efo/EFO_0003823 node EFO_1000133 Borderline Exocrine Pancreatic Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000133 node EFO_0002794 HRE null http://www.ebi.ac.uk/efo/EFO_0002794 node EFO_1000614 Uterine Corpus Lipoleiomyoma null http://www.ebi.ac.uk/efo/EFO_1000614 node CL_0000772 immature eosinophil null http://purl.obolibrary.org/obo/CL_0000772 node EFO_0008671 CAP-seq null http://www.ebi.ac.uk/efo/EFO_0008671 node MONDO_0004348 retinal telangiectasia Consider obsoleting and ceding to HPO http://purl.obolibrary.org/obo/MONDO_0004348 node CL_0000595 enucleate erythrocyte null http://purl.obolibrary.org/obo/CL_0000595 node Orphanet_289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 null http://www.orpha.net/ORDO/Orphanet_289916 node GO_0046677 response to antibiotic null http://purl.obolibrary.org/obo/GO_0046677 node Orphanet_705 Pendred syndrome null http://www.orpha.net/ORDO/Orphanet_705 node NCBITaxon_9606 Homo sapiens null http://purl.obolibrary.org/obo/NCBITaxon_9606 node EFO_0003911 atrial flutter null http://www.ebi.ac.uk/efo/EFO_0003911 node EFO_1000221 Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ null http://www.ebi.ac.uk/efo/EFO_1000221 node MONDO_0003438 combined small cell lung carcinoma null http://purl.obolibrary.org/obo/MONDO_0003438 node EFO_1000702 folliculitis null http://www.ebi.ac.uk/efo/EFO_1000702 node CL_0002553 fibroblast of lung null http://purl.obolibrary.org/obo/CL_0002553 node EFO_0003724 obsolete_kidney (Mus musculus) null http://www.ebi.ac.uk/efo/EFO_0003724 node MONDO_0016180 hematological disease associated with an acquired peripheral neuropathy Editor note: in ORDO, classified as an acquired peripheral neuropathy, which means plasmacytoma is classified as a nervous system disease http://purl.obolibrary.org/obo/MONDO_0016180 node HP_0005184 Prolonged QTc interval null http://purl.obolibrary.org/obo/HP_0005184 node CHEBI_16865 gamma-aminobutyric acid null http://purl.obolibrary.org/obo/CHEBI_16865 node EFO_0001063 deafness null http://www.ebi.ac.uk/efo/EFO_0001063 node EFO_1000923 epidural neoplasm null http://www.ebi.ac.uk/efo/EFO_1000923 node Orphanet_3421 Cerebroretinal vasculopathy null http://www.orpha.net/ORDO/Orphanet_3421 node EFO_1001160 rheumatic fever null http://www.ebi.ac.uk/efo/EFO_1001160 node Orphanet_88918 Autosomal dominant Alport syndrome null http://www.orpha.net/ORDO/Orphanet_88918 node Orphanet_606 Proximal myotonic myopathy null http://www.orpha.net/ORDO/Orphanet_606 node EFO_0004663 processed genotype data file null http://www.ebi.ac.uk/efo/EFO_0004663 node MONDO_0020016 rare neurologic disease with psychiatric involvement null http://purl.obolibrary.org/obo/MONDO_0020016 node EFO_0005710 HFF-Myc null http://www.ebi.ac.uk/efo/EFO_0005710 node EFO_0005505 enclosing embryo Ce null http://www.ebi.ac.uk/efo/EFO_0005505 node Orphanet_294937 Brachydactyly Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy http://www.orpha.net/ORDO/Orphanet_294937 node NCBITaxon_45709 Sabia virus null http://purl.obolibrary.org/obo/NCBITaxon_45709 node Orphanet_46532 Hereditary persistence of fetal hemoglobin - beta-thalassemia null http://www.orpha.net/ORDO/Orphanet_46532 node UBERON_0001621 coronary artery null http://purl.obolibrary.org/obo/UBERON_0001621 node CHEBI_16953 N-acetyl-L-aspartate(2-) null http://purl.obolibrary.org/obo/CHEBI_16953 node EFO_0001151 GM12760 null http://www.ebi.ac.uk/efo/EFO_0001151 node Orphanet_261318 Trisomy 20p null http://www.orpha.net/ORDO/Orphanet_261318 node UBERON_0001434 skeletal system null http://purl.obolibrary.org/obo/UBERON_0001434 node EFO_0005292 lymphoblastoid cell line null http://www.ebi.ac.uk/efo/EFO_0005292 node Orphanet_399086 Finnish upper limb-onset distal myopathy null http://www.orpha.net/ORDO/Orphanet_399086 node OBI_0400114 sonicator null http://purl.obolibrary.org/obo/OBI_0400114 node Orphanet_85291 X-linked intellectual disability, Wittwer type null http://www.orpha.net/ORDO/Orphanet_85291 node EFO_0000380 obsolete_corpus cardiacum null http://www.ebi.ac.uk/efo/EFO_0000380 node EFO_0004751 CCL4 measurement null http://www.ebi.ac.uk/efo/EFO_0004751 node MONDO_0017260 systemic diseases with posterior uveitis null http://purl.obolibrary.org/obo/MONDO_0017260 node EFO_1001061 neurogenic bowel null http://www.ebi.ac.uk/efo/EFO_1001061 node CHEBI_7936 paroxetine null http://purl.obolibrary.org/obo/CHEBI_7936 node MONDO_0000991 left bundle branch block null http://purl.obolibrary.org/obo/MONDO_0000991 node HP_0007924 Slow decrease in visual acuity null http://purl.obolibrary.org/obo/HP_0007924 node UBERON_2000072 somite 1 null http://purl.obolibrary.org/obo/UBERON_2000072 node Orphanet_404469 Female infertility due to fertilization defect null http://www.orpha.net/ORDO/Orphanet_404469 node EFO_0006514 Alzheimer's disease biomarker measurement null http://www.ebi.ac.uk/efo/EFO_0006514 node Orphanet_295085 Congenital absence of upper arm and forearm with hand present, unilateral null http://www.orpha.net/ORDO/Orphanet_295085 node EFO_1001408 Pulmonary Infarction null http://www.ebi.ac.uk/efo/EFO_1001408 node EFO_0006337 response to allopurinol null http://www.ebi.ac.uk/efo/EFO_0006337 node MONDO_0019964 thymic neuroendocrine tumor null http://purl.obolibrary.org/obo/MONDO_0019964 node HP_0025031 Abnormality of the digestive system Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus. http://purl.obolibrary.org/obo/HP_0025031 node NCBITaxon_1685 Bifidobacterium breve null http://purl.obolibrary.org/obo/NCBITaxon_1685 node EFO_0010458 alpha-hydroxybutyric acid measurement null http://www.ebi.ac.uk/efo/EFO_0010458 node Orphanet_2587 Myeloperoxidase deficiency null http://www.orpha.net/ORDO/Orphanet_2587 node EFO_0008966 TCR Chain Paring null http://www.ebi.ac.uk/efo/EFO_0008966 node Orphanet_699 Pearson syndrome null http://www.orpha.net/ORDO/Orphanet_699 node Orphanet_263558 Generalized peeling skin syndrome type C null http://www.orpha.net/ORDO/Orphanet_263558 node EFO_0006602 JHH-5 null http://www.ebi.ac.uk/efo/EFO_0006602 node Orphanet_171208 Intermediate anorectal malformation null http://www.orpha.net/ORDO/Orphanet_171208 node MONDO_0000892 colon medullary carcinoma null http://purl.obolibrary.org/obo/MONDO_0000892 node EFO_0006425 HCC1319 null http://www.ebi.ac.uk/efo/EFO_0006425 node EFO_0010546 uridine measurement null http://www.ebi.ac.uk/efo/EFO_0010546 node Orphanet_79443 Pseudohypoparathyroidism type 1A null http://www.orpha.net/ORDO/Orphanet_79443 node Orphanet_79238 Galactose epimerase deficiency null http://www.orpha.net/ORDO/Orphanet_79238 node EFO_0007750 ELR null http://www.ebi.ac.uk/efo/EFO_0007750 node EFO_0006823 total trans-18:1 fatty acid measurement null http://www.ebi.ac.uk/efo/EFO_0006823 node Orphanet_46724 Cerebral arteriovenous malformation null http://www.orpha.net/ORDO/Orphanet_46724 node MONDO_0018202 gonadal germ cell tumor null http://purl.obolibrary.org/obo/MONDO_0018202 node EFO_0009993 ChIP-BMS null http://www.ebi.ac.uk/efo/EFO_0009993 node FBbt_00005565 embryonic ventral midline neuroblast null http://purl.obolibrary.org/obo/FBbt_00005565 node NCBITaxon_380964 Influenza A virus (A/Texas/36/1991(H1N1)) null http://purl.obolibrary.org/obo/NCBITaxon_380964 node MONDO_0001748 maxillary sinus carcinoma null http://purl.obolibrary.org/obo/MONDO_0001748 node Orphanet_2896 Pitt-Hopkins syndrome null http://www.orpha.net/ORDO/Orphanet_2896 node MONDO_0014958 Harel-Yoon syndrome null http://purl.obolibrary.org/obo/MONDO_0014958 node Orphanet_79022 Simpson-Golabi-Behmel syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_79022 node Orphanet_238583 Hyperphenylalaninemia null http://www.orpha.net/ORDO/Orphanet_238583 node EFO_0007452 post-thrombotic syndrome null http://www.ebi.ac.uk/efo/EFO_0007452 node CL_0002464 SIRPa-negative adipose dendritic cell null http://purl.obolibrary.org/obo/CL_0002464 node EFO_0010634 Snijders Blok-Fisher syndrome null http://www.ebi.ac.uk/efo/EFO_0010634 node Orphanet_391384 Familial episodic pain syndrome null http://www.orpha.net/ORDO/Orphanet_391384 node CHEBI_47032 1-4-dioxane null http://purl.obolibrary.org/obo/CHEBI_47032 node CHEBI_18723 nicotine null http://purl.obolibrary.org/obo/CHEBI_18723 node Orphanet_79326 ALG2-CDG null http://www.orpha.net/ORDO/Orphanet_79326 node EFO_0005119 antioxidant measurement null http://www.ebi.ac.uk/efo/EFO_0005119 node EFO_0006911 Chemotherapy-induced nausea and vomiting null http://www.ebi.ac.uk/efo/EFO_0006911 node EFO_0006706 OCI-AML2 null http://www.ebi.ac.uk/efo/EFO_0006706 node CHEBI_8021 pergolide mesylate null http://purl.obolibrary.org/obo/CHEBI_8021 node UO_0000001 length unit null http://purl.obolibrary.org/obo/UO_0000001 node EFO_0001645 coronary artery disease null http://www.ebi.ac.uk/efo/EFO_0001645 node Orphanet_93969 Myelomeningocele null http://www.orpha.net/ORDO/Orphanet_93969 node MONDO_0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation null http://purl.obolibrary.org/obo/MONDO_0014512 node GO_0005730 nucleolus null http://purl.obolibrary.org/obo/GO_0005730 node Orphanet_2779 Osteopathia striata - pigmentary dermopathy - white forelock null http://www.orpha.net/ORDO/Orphanet_2779 node EFO_0009233 Blood Cell Count Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009233 node NCBITaxon_360094 Xanthomonas oryzae pv. oryzae PXO99A null http://purl.obolibrary.org/obo/NCBITaxon_360094 node EFO_0008262 platelet glycoprotein 4 measurement null http://www.ebi.ac.uk/efo/EFO_0008262 node Orphanet_68380 Mitochondrial disease null http://www.orpha.net/ORDO/Orphanet_68380 node Orphanet_98637 Secondary glaucoma due to a proliferation and differentiation anomaly null http://www.orpha.net/ORDO/Orphanet_98637 node EFO_0007721 carotid artery central pulse pressure measurement null http://www.ebi.ac.uk/efo/EFO_0007721 node Orphanet_90119 Axonal Charcot-Marie-Tooth disease with acrodystrophy null http://www.orpha.net/ORDO/Orphanet_90119 node Orphanet_295193 Zygodactyly type 4 null http://www.orpha.net/ORDO/Orphanet_295193 node EFO_0009937 Opioid use measurement null http://www.ebi.ac.uk/efo/EFO_0009937 node NCBITaxon_103818 Lactobacillus kimchii null http://purl.obolibrary.org/obo/NCBITaxon_103818 node FBbt_00017000 amnioserosa primordium null http://purl.obolibrary.org/obo/FBbt_00017000 node EFO_0001733 curator null http://www.ebi.ac.uk/efo/EFO_0001733 node EFO_1000422 Ovarian Gynandroblastoma null http://www.ebi.ac.uk/efo/EFO_1000422 node EFO_0010477 fructose measurement null http://www.ebi.ac.uk/efo/EFO_0010477 node EFO_0002473 stamen abscission zone null http://www.ebi.ac.uk/efo/EFO_0002473 node EFO_0009321 diabetic macular edema null http://www.ebi.ac.uk/efo/EFO_0009321 node CLO_0013890 GM17211 null http://purl.obolibrary.org/obo/CLO_0013890 node GO_0052048 interaction with host via secreted substance involved in symbiotic interaction null http://purl.obolibrary.org/obo/GO_0052048 node Orphanet_93352 Spondyloepimetaphyseal dysplasia, Shohat type null http://www.orpha.net/ORDO/Orphanet_93352 node Orphanet_210571 Dystonia 16 null http://www.orpha.net/ORDO/Orphanet_210571 node Orphanet_1864 Congenital valvular dysplasia Editor note: TODO check this. The name suggests it affects any valve, but the ORDO superclass suggests tricuspid only http://www.orpha.net/ORDO/Orphanet_1864 node EFO_0008219 macrophage inflammatory protein 1b measurement null http://www.ebi.ac.uk/efo/EFO_0008219 node HP_0000153 Abnormality of the mouth null http://purl.obolibrary.org/obo/HP_0000153 node Orphanet_289 Ellis Van Creveld syndrome null http://www.orpha.net/ORDO/Orphanet_289 node CHEBI_22210 aconitate(3-) null http://purl.obolibrary.org/obo/CHEBI_22210 node Orphanet_171863 Autosomal dominant spastic paraplegia type 42 null http://www.orpha.net/ORDO/Orphanet_171863 node EFO_0009544 esophageal disease null http://www.ebi.ac.uk/efo/EFO_0009544 node CHEBI_5002 fenoldopam null http://purl.obolibrary.org/obo/CHEBI_5002 node EFO_1000510 Retroperitoneal Inflammatory Myofibroblastic Tumor null http://www.ebi.ac.uk/efo/EFO_1000510 node EFO_0010565 myopathy, congenital, progressive, with scoliosis null http://www.ebi.ac.uk/efo/EFO_0010565 node EFO_0009848 antiemetic effect null http://www.ebi.ac.uk/efo/EFO_0009848 node EFO_0003532 obsolete_paraventricular organ null http://www.ebi.ac.uk/efo/EFO_0003532 node EFO_0002561 embryonic day 8.25 null http://www.ebi.ac.uk/efo/EFO_0002561 node EFO_0001080 267B1 null http://www.ebi.ac.uk/efo/EFO_0001080 node MONDO_0004700 parotid gland cancer null http://purl.obolibrary.org/obo/MONDO_0004700 node MONDO_0015821 mycosis fungoides and variants null http://purl.obolibrary.org/obo/MONDO_0015821 node EFO_0009632 amputation null http://www.ebi.ac.uk/efo/EFO_0009632 node EFO_0009427 embryonic lethality null http://www.ebi.ac.uk/efo/EFO_0009427 node MONDO_0020516 thymic neuroendocrine carcinoma null http://purl.obolibrary.org/obo/MONDO_0020516 node NCBITaxon_3848 Glycine soja null http://purl.obolibrary.org/obo/NCBITaxon_3848 node MONDO_0003334 demyelinating polyneuropathy null http://purl.obolibrary.org/obo/MONDO_0003334 node CLO_0032601 ND04158 null http://purl.obolibrary.org/obo/CLO_0032601 node UBERON_0001021 nerve null http://purl.obolibrary.org/obo/UBERON_0001021 node EFO_0004342 waist circumference null http://www.ebi.ac.uk/efo/EFO_0004342 node EFO_0003415 obsolete_embryonic ventral apodeme null http://www.ebi.ac.uk/efo/EFO_0003415 node EFO_1001799 incomplete abortion null http://www.ebi.ac.uk/efo/EFO_1001799 node Orphanet_16 Blue cone monochromatism null http://www.orpha.net/ORDO/Orphanet_16 node UBERON_0003728 mediastinum null http://purl.obolibrary.org/obo/UBERON_0003728 node Orphanet_284811 Syndromic oculocutaneous albinism null http://www.orpha.net/ORDO/Orphanet_284811 node MONDO_0005299 brain ischemia null http://purl.obolibrary.org/obo/MONDO_0005299 node EFO_0009515 wrist fracture null http://www.ebi.ac.uk/efo/EFO_0009515 node EFO_1001859 testicular hydrocele null http://www.ebi.ac.uk/efo/EFO_1001859 node EFO_0006788 anxiety disorder null http://www.ebi.ac.uk/efo/EFO_0006788 node EFO_0004430 outbred null http://www.ebi.ac.uk/efo/EFO_0004430 node EFO_0003503 obsolete_basibranchial bone null http://www.ebi.ac.uk/efo/EFO_0003503 node CHEBI_3390 carbaryl null http://purl.obolibrary.org/obo/CHEBI_3390 node UBERON_0002769 superior temporal gyrus null http://purl.obolibrary.org/obo/UBERON_0002769 node NCBITaxon_538997 Eucalyptus camaldulensis x Eucalyptus grandis null http://purl.obolibrary.org/obo/NCBITaxon_538997 node EFO_1002039 renal hypertension null http://www.ebi.ac.uk/efo/EFO_1002039 node CHEBI_46889 S-[2,3-bis(palmitoyloxy)propyl]-Cys-Ser-Lys-Lys-Lys-Lys null http://purl.obolibrary.org/obo/CHEBI_46889 node EFO_0004194 IGA glomerulonephritis null http://www.ebi.ac.uk/efo/EFO_0004194 node MONDO_0003001 seminoma null http://purl.obolibrary.org/obo/MONDO_0003001 node CHEBI_9753 troglitazone null http://purl.obolibrary.org/obo/CHEBI_9753 node Orphanet_98896 Duchenne muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_98896 node EFO_1001466 Graves ophthalmopathy null http://www.ebi.ac.uk/efo/EFO_1001466 node EFO_1001947 childhood T acute lymphoblastic leukemia null http://www.ebi.ac.uk/efo/EFO_1001947 node EFO_0005896 obsolete_gastroesophageal junction null http://www.ebi.ac.uk/efo/EFO_0005896 node EFO_0000418 obsolete_dorsal histoblast nest abdominal null http://www.ebi.ac.uk/efo/EFO_0000418 node CHEBI_28610 1-O-oleoyl-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_28610 node EFO_0010388 phosphatidylcholine 38:6 measurement null http://www.ebi.ac.uk/efo/EFO_0010388 node MONDO_0020018 cranial malformation null http://purl.obolibrary.org/obo/MONDO_0020018 node MONDO_0002974 cervical cancer null http://purl.obolibrary.org/obo/MONDO_0002974 node MONDO_0021629 uterine ligament neoplasm null http://purl.obolibrary.org/obo/MONDO_0021629 node CL_0000286 hyphal cell null http://purl.obolibrary.org/obo/CL_0000286 node CL_0000099 interneuron null http://purl.obolibrary.org/obo/CL_0000099 node NCBITaxon_79782 Cimex lectularius null http://purl.obolibrary.org/obo/NCBITaxon_79782 node Orphanet_157973 Congenital muscular dystrophy due to LMNA mutation null http://www.orpha.net/ORDO/Orphanet_157973 node EFO_0000202 obsolete_promyelocytic leukemia null http://www.ebi.ac.uk/efo/EFO_0000202 node EFO_0008699 CRE-Seq null http://www.ebi.ac.uk/efo/EFO_0008699 node Orphanet_183542 Genetic cranial malformation null http://www.orpha.net/ORDO/Orphanet_183542 node OBI_0000071 quantitative confidence value null http://purl.obolibrary.org/obo/OBI_0000071 node EFO_0000506 gene knock out null http://www.ebi.ac.uk/efo/EFO_0000506 node Orphanet_2752 Orofaciodigital syndrome type 3 null http://www.orpha.net/ORDO/Orphanet_2752 node EFO_0004209 hypospadias null http://www.ebi.ac.uk/efo/EFO_0004209 node EFO_0007055 microgram per gram body weight null http://www.ebi.ac.uk/efo/EFO_0007055 node EFO_0000319 cardiovascular disease null http://www.ebi.ac.uk/efo/EFO_0000319 node MONDO_0009867 lethal congenital glycogen storage disease of heart null http://purl.obolibrary.org/obo/MONDO_0009867 node Orphanet_1143 Neurogenic arthrogryposis multiplex congenita null http://www.orpha.net/ORDO/Orphanet_1143 node Orphanet_85201 Genitopatellar syndrome null http://www.orpha.net/ORDO/Orphanet_85201 node EFO_0010711 uterine endothelial cell Made as a placeholder for AE anatomagrams, term should be requested in CL. http://www.ebi.ac.uk/efo/EFO_0010711 node CHEBI_24757 hypochlorous acid null http://purl.obolibrary.org/obo/CHEBI_24757 node Orphanet_478 Kallmann syndrome null http://www.orpha.net/ORDO/Orphanet_478 node EFO_0005401 response to high sodium diet null http://www.ebi.ac.uk/efo/EFO_0005401 node Orphanet_2840 Pelvic dysplasia - arthrogryposis of lower limbs null http://www.orpha.net/ORDO/Orphanet_2840 node MONDO_0000129 glutaric aciduria (disease) Editor note: check relationship to multiple acyl-CoA dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0000129 node EFO_0008070 caspase-3 measurement null http://www.ebi.ac.uk/efo/EFO_0008070 node CHEBI_51953 polyamide null http://purl.obolibrary.org/obo/CHEBI_51953 node EFO_0007143 alveolar soft part sarcoma null http://www.ebi.ac.uk/efo/EFO_0007143 node EO_0007129 UV-C light regimen null http://purl.obolibrary.org/obo/EO_0007129 node Orphanet_952 Acrofacial dysostosis, Weyers type null http://www.orpha.net/ORDO/Orphanet_952 node EFO_1000392 Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm null http://www.ebi.ac.uk/efo/EFO_1000392 node NCBITaxon_545 Citrobacter koseri null http://purl.obolibrary.org/obo/NCBITaxon_545 node Orphanet_313795 Jawad syndrome null http://www.orpha.net/ORDO/Orphanet_313795 node Orphanet_262 Duchenne and Becker muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_262 node Orphanet_79190 Disorder of phenylalanin or tyrosine metabolism null http://www.orpha.net/ORDO/Orphanet_79190 node HP_0001762 Talipes equinovarus Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. http://purl.obolibrary.org/obo/HP_0001762 node Orphanet_1231 Barber-Say syndrome null http://www.orpha.net/ORDO/Orphanet_1231 node EFO_0006570 EFM-192C null http://www.ebi.ac.uk/efo/EFO_0006570 node Orphanet_2371 Lethal Larsen-like syndrome null http://www.orpha.net/ORDO/Orphanet_2371 node EFO_0007366 microsporidiosis null http://www.ebi.ac.uk/efo/EFO_0007366 node EFO_0006393 Farage null http://www.ebi.ac.uk/efo/EFO_0006393 node EFO_0001354 SALK_037727 null http://www.ebi.ac.uk/efo/EFO_0001354 node Orphanet_379 Chronic granulomatous disease null http://www.orpha.net/ORDO/Orphanet_379 node EFO_0009995 UMI-4C null http://www.ebi.ac.uk/efo/EFO_0009995 node EFO_0007231 cysticercosis null http://www.ebi.ac.uk/efo/EFO_0007231 node NCBITaxon_1928 Streptomyces rochei null http://purl.obolibrary.org/obo/NCBITaxon_1928 node EFO_1000480 Placental Hemangioma null http://www.ebi.ac.uk/efo/EFO_1000480 node Orphanet_85323 X-linked intellectual disability, Seemanova type null http://www.orpha.net/ORDO/Orphanet_85323 node MONDO_0030502 tetrasomy null http://purl.obolibrary.org/obo/MONDO_0030502 node CL_0002056 Fraction F mature B cell null http://purl.obolibrary.org/obo/CL_0002056 node Orphanet_2349 Muscular pseudohypertrophy - hypothyroidism null http://www.orpha.net/ORDO/Orphanet_2349 node EFO_1000827 atrophy of thyroid null http://www.ebi.ac.uk/efo/EFO_1000827 node HP_0003270 Abdominal distention Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction. http://purl.obolibrary.org/obo/HP_0003270 node EFO_0007454 postpoliomyelitis syndrome null http://www.ebi.ac.uk/efo/EFO_0007454 node Orphanet_2254 Pontocerebellar hypoplasia type 1 null http://www.orpha.net/ORDO/Orphanet_2254 node EFO_0006481 SC-1 null http://www.ebi.ac.uk/efo/EFO_0006481 node EFO_0009704 radiation-induced brain injury null http://www.ebi.ac.uk/efo/EFO_0009704 node UBERON_0001737 larynx null http://purl.obolibrary.org/obo/UBERON_0001737 node EFO_0002164 DMS273 null http://www.ebi.ac.uk/efo/EFO_0002164 node EFO_0001237 SKGT4 null http://www.ebi.ac.uk/efo/EFO_0001237 node PO_0025502 fruit ripening stage Succeeds a fruit formation stage (PO:0025501). This stage is to be used for an individual fruit. Fruit ripening (GO:0009835) is defined as: an aging process that has as participant a fruit. Ripening causes changes in one or more characteristics of a fruit (color, aroma, flavor, texture, hardness, cell wall structure) and may make it more attractive to animals and aid in seed dispersal. For the development stage of a whole plant (PO:0000003), use whole plant fruit ripening stage (PO:0007010). http://purl.obolibrary.org/obo/PO_0025502 node NCBITaxon_715 Actinobacillus pleuropneumoniae null http://purl.obolibrary.org/obo/NCBITaxon_715 node Orphanet_168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure null http://www.orpha.net/ORDO/Orphanet_168609 node CL_0002619 adult endothelial progenitor cell null http://purl.obolibrary.org/obo/CL_0002619 node Orphanet_2437 Split hand - urinary anomalies - spina bifida null http://www.orpha.net/ORDO/Orphanet_2437 node NCBITaxon_8152 Astatotilapia null http://purl.obolibrary.org/obo/NCBITaxon_8152 node EFO_0009235 Eosinophilic Metamyelocyte Count null http://www.ebi.ac.uk/efo/EFO_0009235 node EFO_1000915 encephalomalacia null http://www.ebi.ac.uk/efo/EFO_1000915 node HP_0001270 Motor delay null http://purl.obolibrary.org/obo/HP_0001270 node EFO_0007337 laryngeal tuberculosis null http://www.ebi.ac.uk/efo/EFO_0007337 node CHEBI_85734 triacylglycerol 52:5 null http://purl.obolibrary.org/obo/CHEBI_85734 node NCBITaxon_216597 Salmonella enterica subsp. enterica serovar Typhimurium str. SL1344 null http://purl.obolibrary.org/obo/NCBITaxon_216597 node EFO_1000728 lipomatosis null http://www.ebi.ac.uk/efo/EFO_1000728 node EFO_0000284 benign prostatic hyperplasia null http://www.ebi.ac.uk/efo/EFO_0000284 node EFO_0002252 NCI-H1395 null http://www.ebi.ac.uk/efo/EFO_0002252 node EFO_0001325 Canton S null http://www.ebi.ac.uk/efo/EFO_0001325 node EFO_0003191 ocimene null http://www.ebi.ac.uk/efo/EFO_0003191 node NCBITaxon_803 Bartonella quintana null http://purl.obolibrary.org/obo/NCBITaxon_803 node CHEBI_1941 4-(trimethylammonio)butanoic acid null http://purl.obolibrary.org/obo/CHEBI_1941 node EFO_0009323 alpha synuclein measurement null http://www.ebi.ac.uk/efo/EFO_0009323 node EFO_0000986 obsolete_seminal vesicle null http://www.ebi.ac.uk/efo/EFO_0000986 node EFO_0002978 ILSXISS22/TejJ null http://www.ebi.ac.uk/efo/EFO_0002978 node CHEBI_7575 nimodipine null http://purl.obolibrary.org/obo/CHEBI_7575 node NCBITaxon_7230 Drosophila mojavensis null http://purl.obolibrary.org/obo/NCBITaxon_7230 node Orphanet_637 Neurofibromatosis type 2 null http://www.orpha.net/ORDO/Orphanet_637 node EFO_0009136 heterotaxy, visceral, x-linked null http://www.ebi.ac.uk/efo/EFO_0009136 node Orphanet_99105 Atrial septal defect, sinus venosus type null http://www.orpha.net/ORDO/Orphanet_99105 node Orphanet_271841 Genetic cardiac tumor null http://www.orpha.net/ORDO/Orphanet_271841 node EFO_0000372 obsolete_congestive cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_0000372 node EFO_1001053 myoclonic cerebellar dyssynergia null http://www.ebi.ac.uk/efo/EFO_1001053 node EFO_0000185 obsolete_infiltrating lobular carcinoma Made obsolete: considered as synonym to invasive lobular carcinoma http://www.ebi.ac.uk/efo/EFO_0000185 node EFO_0000770 malignant pleural mesothelioma null http://www.ebi.ac.uk/efo/EFO_0000770 node NCBITaxon_1423 Bacillus subtilis null http://purl.obolibrary.org/obo/NCBITaxon_1423 node CHEBI_16979 benzene-1,2,4-triol null http://purl.obolibrary.org/obo/CHEBI_16979 node NCBITaxon_9863 Cervus nippon null http://purl.obolibrary.org/obo/NCBITaxon_9863 node EFO_0001177 HCC2157 null http://www.ebi.ac.uk/efo/EFO_0001177 node Orphanet_99807 PEHO-like syndrome null http://www.orpha.net/ORDO/Orphanet_99807 node EFO_1001274 Bone Anteversion null http://www.ebi.ac.uk/efo/EFO_1001274 node EFO_0000869 obsolete_spleen null http://www.ebi.ac.uk/efo/EFO_0000869 node Orphanet_209050 Qualitative or quantitative defects of protein ZASP null http://www.orpha.net/ORDO/Orphanet_209050 node MONDO_0004139 normocytic anemia null http://purl.obolibrary.org/obo/MONDO_0004139 node Orphanet_93420 FGFR3-related chondrodysplasia null http://www.orpha.net/ORDO/Orphanet_93420 node CHEBI_7476 naproxen null http://purl.obolibrary.org/obo/CHEBI_7476 node MONDO_0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy null http://purl.obolibrary.org/obo/MONDO_0016177 node CLO_0031198 GM14382 null http://purl.obolibrary.org/obo/CLO_0031198 node Orphanet_261619 Alagille syndrome due to a JAG1 point mutation null http://www.orpha.net/ORDO/Orphanet_261619 node Orphanet_206650 Autosomal dominant distal myopathy null http://www.orpha.net/ORDO/Orphanet_206650 node EFO_0009012 Polyarteritis Nodosa null http://www.ebi.ac.uk/efo/EFO_0009012 node EFO_0000653 phyllodes tumor Note that this class covers both breast and prostate phyllodes tumors http://www.ebi.ac.uk/efo/EFO_0000653 node Orphanet_1074 Ankyloblepharon filiforme - imperforate anus null http://www.orpha.net/ORDO/Orphanet_1074 node EFO_0000476 obsolete_epithelial cell of lung null http://www.ebi.ac.uk/efo/EFO_0000476 node EFO_1001157 retinal vein occlusion null http://www.ebi.ac.uk/efo/EFO_1001157 node CL_0000915 CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell null http://purl.obolibrary.org/obo/CL_0000915 node EFO_0005707 786-0 null http://www.ebi.ac.uk/efo/EFO_0005707 node NCBITaxon_6396 Eisenia fetida null http://purl.obolibrary.org/obo/NCBITaxon_6396 node EFO_0003913 angina pectoris null http://www.ebi.ac.uk/efo/EFO_0003913 node CL_0000844 germinal center B cell Germinal center B cells are also reportedly CD10-positive, CD19-positive, CD20-positive, CD38-positive, CD44-low, CD45-positive, CD48-positive, CD95-positive, CD352-positive, and HLA-DR-positive. Transcription factors: BCL6-positive, Ets1-positive, IRF8-positive, MTA3-positive, OBF1-positive, PAX5-positive, SpiB-positive, and STAT3-positive. http://purl.obolibrary.org/obo/CL_0000844 node NCBITaxon_1324865 Brassica carinata x Brassica rapa null http://purl.obolibrary.org/obo/NCBITaxon_1324865 node EFO_0004046 CB128 null http://www.ebi.ac.uk/efo/EFO_0004046 node MONDO_0000308 primary systemic mycosis null http://purl.obolibrary.org/obo/MONDO_0000308 node EFO_0003046 heart transplant rejection null http://www.ebi.ac.uk/efo/EFO_0003046 node EFO_0002119 C32TG null http://www.ebi.ac.uk/efo/EFO_0002119 node GO_0009123 nucleoside monophosphate metabolic process null http://purl.obolibrary.org/obo/GO_0009123 node EFO_1001245 Yersinia infectious disease null http://www.ebi.ac.uk/efo/EFO_1001245 node HP_0002134 Abnormality of the basal ganglia The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal. http://purl.obolibrary.org/obo/HP_0002134 node EFO_0005675 vitamin D-binding protein measurement null http://www.ebi.ac.uk/efo/EFO_0005675 node EFO_0004748 thyroid stimulating hormone measurement null http://www.ebi.ac.uk/efo/EFO_0004748 node CL_0000451 dendritic cell null http://purl.obolibrary.org/obo/CL_0000451 node Orphanet_100999 Autosomal dominant spastic paraplegia type 19 null http://www.orpha.net/ORDO/Orphanet_100999 node Orphanet_199329 Congenital myopathy, Paradas type null http://www.orpha.net/ORDO/Orphanet_199329 node EFO_0003106 pneumonia null http://www.ebi.ac.uk/efo/EFO_0003106 node HP_0008158 Hyperapobetalipoproteinemia null http://purl.obolibrary.org/obo/HP_0008158 node Orphanet_66629 Goldberg-Shprintzen megacolon syndrome null http://www.orpha.net/ORDO/Orphanet_66629 node Orphanet_1548 Cryptorchidism - arachnodactyly - intellectual disability null http://www.orpha.net/ORDO/Orphanet_1548 node MONDO_0030118 silver-russell syndrome 4 null http://purl.obolibrary.org/obo/MONDO_0030118 node Orphanet_309155 Sandhoff disease, infantile form null http://www.orpha.net/ORDO/Orphanet_309155 node CHEBI_27226 uric acid null http://purl.obolibrary.org/obo/CHEBI_27226 node UBERON_0006088 inferior parietal cortex null http://purl.obolibrary.org/obo/UBERON_0006088 node Orphanet_398166 Focal facial dermal dysplasia null http://www.orpha.net/ORDO/Orphanet_398166 node CLO_0034915 AG04655 null http://purl.obolibrary.org/obo/CLO_0034915 node EFO_0010402 triacylglycerol 46:2 measurement null http://www.ebi.ac.uk/efo/EFO_0010402 node Orphanet_364526 Primary bone dysplasia Editor note: ORDO has these as genetic, but some forms may not be genetic - check this http://www.orpha.net/ORDO/Orphanet_364526 node Orphanet_35098 Isolated plagiocephaly null http://www.orpha.net/ORDO/Orphanet_35098 node Orphanet_261272 17q12 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_261272 node EFO_0010249 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 null http://www.ebi.ac.uk/efo/EFO_0010249 node EFO_0007526 trombiculiasis null http://www.ebi.ac.uk/efo/EFO_0007526 node GO_0051930 regulation of sensory perception of pain null http://purl.obolibrary.org/obo/GO_0051930 node EFO_0008288 small nuclear ribonucleoprotein F measurement null http://www.ebi.ac.uk/efo/EFO_0008288 node EFO_0007924 tonsillectomy risk measurement null http://www.ebi.ac.uk/efo/EFO_0007924 node NCBITaxon_37495 Euphorbia pulcherrima null http://purl.obolibrary.org/obo/NCBITaxon_37495 node Orphanet_1636 Distal monosomy 7q36 null http://www.orpha.net/ORDO/Orphanet_1636 node Orphanet_98668 Vitreoretinopathy null http://www.orpha.net/ORDO/Orphanet_98668 node MONDO_0005149 pulmonary hypertension null http://purl.obolibrary.org/obo/MONDO_0005149 node MONDO_0002654 uterine disease null http://purl.obolibrary.org/obo/MONDO_0002654 node EFO_0007747 postburn hypertrophic scarring severity measurement null http://www.ebi.ac.uk/efo/EFO_0007747 node Orphanet_1449 Ring chromosome 7 null http://www.orpha.net/ORDO/Orphanet_1449 node UBERON_0006761 corneo-scleral junction This location has parts such as blood vessels etc. See PMC2868485, http://www.ncbi.nlm.nih.gov/pubmed/2695343 http://purl.obolibrary.org/obo/UBERON_0006761 node EFO_0007057 miotic rate Definition taken from : http://www.cancer.gov/publications/dictionaries/cancer-terms?cdrid=681122 http://www.ebi.ac.uk/efo/EFO_0007057 node MONDO_0032905 spastic paraplegia 81, autosomal recessive null http://purl.obolibrary.org/obo/MONDO_0032905 node MONDO_0011242 Bartter disease type 4a null http://purl.obolibrary.org/obo/MONDO_0011242 node NCBITaxon_57482 European bat lyssavirus 1 null http://purl.obolibrary.org/obo/NCBITaxon_57482 node CHEBI_63952 arsenic trichloride null http://purl.obolibrary.org/obo/CHEBI_63952 node EFO_0008376 mosquito bite measurement null http://www.ebi.ac.uk/efo/EFO_0008376 node CL_0000048 multi fate stem cell null http://purl.obolibrary.org/obo/CL_0000048 node GO_0061042 vascular wound healing null http://purl.obolibrary.org/obo/GO_0061042 node EFO_0007835 alcohol dependence measurement null http://www.ebi.ac.uk/efo/EFO_0007835 node EFO_0006908 HPL1C null http://www.ebi.ac.uk/efo/EFO_0006908 node CHEBI_8100 3-phenyllactate null http://purl.obolibrary.org/obo/CHEBI_8100 node Orphanet_2701 Noonan syndrome-like disorder with loose anagen hair null http://www.orpha.net/ORDO/Orphanet_2701 node EFO_0007145 ancylostomiasis null http://www.ebi.ac.uk/efo/EFO_0007145 node CHEBI_26490 quinate null http://purl.obolibrary.org/obo/CHEBI_26490 node Orphanet_140874 Joubert syndrome and related disorders null http://www.orpha.net/ORDO/Orphanet_140874 node MONDO_0019820 univentricular cardiopathy null http://purl.obolibrary.org/obo/MONDO_0019820 node NCBITaxon_10092 Mus musculus domesticus null http://purl.obolibrary.org/obo/NCBITaxon_10092 node Orphanet_2514 Autosomal dominant microcephaly null http://www.orpha.net/ORDO/Orphanet_2514 node EFO_0008464 glucose-dependent insulinotropic peptide measurement null http://www.ebi.ac.uk/efo/EFO_0008464 node MONDO_0002824 extrinsic cardiomyopathy null http://purl.obolibrary.org/obo/MONDO_0002824 node CL_0001063 neoplastic cell https://github.com/obophenotype/cell-ontology/issues/448 http://purl.obolibrary.org/obo/CL_0001063 node Orphanet_48818 Aceruloplasminemia null http://www.orpha.net/ORDO/Orphanet_48818 node Orphanet_319487 Familial papillary or follicular thyroid carcinoma null http://www.orpha.net/ORDO/Orphanet_319487 node CHEBI_33853 phenols null http://purl.obolibrary.org/obo/CHEBI_33853 node CHEBI_44975 1,10-phenanthroline null http://purl.obolibrary.org/obo/CHEBI_44975 node CHEBI_29073 L-ascorbic acid null http://purl.obolibrary.org/obo/CHEBI_29073 node EFO_0003628 obsolete_granulosa cell layer null http://www.ebi.ac.uk/efo/EFO_0003628 node Orphanet_293987 Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome null http://www.orpha.net/ORDO/Orphanet_293987 node EFO_1000419 Ovarian Germ Cell Tumor Editor note: we make this equivalent to DOID:2156, despite the fact the DOID has 'cancer' in the label it's placement in the ontology is consistent with the broader 'tumor' http://www.ebi.ac.uk/efo/EFO_1000419 node MONDO_0020768 X-linked deafness Note that this encompasses both syndromic and non-syndromic types. http://purl.obolibrary.org/obo/MONDO_0020768 node Orphanet_99001 Butterfly-shaped pigment dystrophy null http://www.orpha.net/ORDO/Orphanet_99001 node Orphanet_139411 Carney triad null http://www.orpha.net/ORDO/Orphanet_139411 node CLO_0013197 GM17273 null http://purl.obolibrary.org/obo/CLO_0013197 node Orphanet_363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema null http://www.orpha.net/ORDO/Orphanet_363540 node Orphanet_328 Congenital factor X deficiency null http://www.orpha.net/ORDO/Orphanet_328 node EFO_1001130 Proteus infectious disease null http://www.ebi.ac.uk/efo/EFO_1001130 node EFO_1000213 Cystic Nephroma null http://www.ebi.ac.uk/efo/EFO_1000213 node HP_0000735 Impaired social interactions null http://purl.obolibrary.org/obo/HP_0000735 node EFO_0004820 sex ratio null http://www.ebi.ac.uk/efo/EFO_0004820 node UBERON_0003499 brain blood vessel null http://purl.obolibrary.org/obo/UBERON_0003499 node CHEBI_36457 homocitrate (3-) null http://purl.obolibrary.org/obo/CHEBI_36457 node EFO_0000930 obsolete_ureter null http://www.ebi.ac.uk/efo/EFO_0000930 node HP_0010944 Abnormal renal pelvis morphology null http://purl.obolibrary.org/obo/HP_0010944 node EFO_1000507 Renal Angiomyoadenomatous Tumor null http://www.ebi.ac.uk/efo/EFO_1000507 node EFO_0008536 anti-centromere-antibody-positive systemic scleroderma null http://www.ebi.ac.uk/efo/EFO_0008536 node EFO_0003716 obsolete_liver (Macaca mulatta) null http://www.ebi.ac.uk/efo/EFO_0003716 node EFO_0004633 protein C measurement null http://www.ebi.ac.uk/efo/EFO_0004633 node CLO_0031668 GM14584 null http://purl.obolibrary.org/obo/CLO_0031668 node EFO_0001922 obsolete_female accessory gland null http://www.ebi.ac.uk/efo/EFO_0001922 node HP_0002500 Abnormality of the cerebral white matter This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex. http://purl.obolibrary.org/obo/HP_0002500 node EFO_1000026 diffuse intrinsic pontine glioma null http://www.ebi.ac.uk/efo/EFO_1000026 node CHEBI_16449 alanine null http://purl.obolibrary.org/obo/CHEBI_16449 node NCBITaxon_9940 Ovis aries null http://purl.obolibrary.org/obo/NCBITaxon_9940 node EFO_0004456 reduce cholesterol levels null http://www.ebi.ac.uk/efo/EFO_0004456 node EFO_0003529 obsolete_anterior lateral line nerve null http://www.ebi.ac.uk/efo/EFO_0003529 node EFO_0001735 data coder null http://www.ebi.ac.uk/efo/EFO_0001735 node Orphanet_231500 Hermansky-Pudlak syndrome with pulmonary fibrosis null http://www.orpha.net/ORDO/Orphanet_231500 node EFO_1001832 Psoas abscess null http://www.ebi.ac.uk/efo/EFO_1001832 node HP_0002136 Broad-based gait null http://purl.obolibrary.org/obo/HP_0002136 node MONDO_0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome null http://purl.obolibrary.org/obo/MONDO_0018820 node MONDO_0016441 acquired pseudoxanthoma elasticum null http://purl.obolibrary.org/obo/MONDO_0016441 node Orphanet_52 Alagille syndrome null http://www.orpha.net/ORDO/Orphanet_52 node Orphanet_314572 Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome null http://www.orpha.net/ORDO/Orphanet_314572 node HP_0000823 Delayed puberty The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy. http://purl.obolibrary.org/obo/HP_0000823 node Orphanet_352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis null http://www.orpha.net/ORDO/Orphanet_352301 node Orphanet_294929 Terminal limb defects null http://www.orpha.net/ORDO/Orphanet_294929 node CLO_0031275 GM14465 null http://purl.obolibrary.org/obo/CLO_0031275 node CHEBI_64564 thioproline null http://purl.obolibrary.org/obo/CHEBI_64564 node Orphanet_247798 MUTYH-related attenuated familial adenomatous polyposis null http://www.orpha.net/ORDO/Orphanet_247798 node EFO_0004721 obsolete_Gaucher disease null http://www.ebi.ac.uk/efo/EFO_0004721 node EFO_0008624 vitreous body disease null http://www.ebi.ac.uk/efo/EFO_0008624 node EFO_1000114 Benign Ovarian Mixed Epithelial Tumor null http://www.ebi.ac.uk/efo/EFO_1000114 node EFO_0003497 obsolete_neural keel null http://www.ebi.ac.uk/efo/EFO_0003497 node MONDO_0014665 Charcot-Marie-Tooth disease axonal type 2V null http://purl.obolibrary.org/obo/MONDO_0014665 node MONDO_0021354 tumor of adipose tissue null http://purl.obolibrary.org/obo/MONDO_0021354 node Orphanet_295055 Amelia of upper limb, bilateral null http://www.orpha.net/ORDO/Orphanet_295055 node EFO_1001920 stress-induced anxiety-like behavior null http://www.ebi.ac.uk/efo/EFO_1001920 node NCBITaxon_45249 Arabidopsis suecica null http://purl.obolibrary.org/obo/NCBITaxon_45249 node CHEBI_35623 anticonvulsant null http://purl.obolibrary.org/obo/CHEBI_35623 node Orphanet_183573 Genetic overgrowth/obesity syndrome null http://www.orpha.net/ORDO/Orphanet_183573 node FBbt_00005505 large intestine primordium null http://purl.obolibrary.org/obo/FBbt_00005505 node CHEBI_35212 apratoxin A null http://purl.obolibrary.org/obo/CHEBI_35212 node NCBITaxon_488 Neisseria mucosa null http://purl.obolibrary.org/obo/NCBITaxon_488 node EFO_0010339 FVC change measurement null http://www.ebi.ac.uk/efo/EFO_0010339 node EFO_0010924 proheparin-binding EGF-like growth factor measurement null http://www.ebi.ac.uk/efo/EFO_0010924 node CHEBI_21565 N-acetyl-L-valine null http://purl.obolibrary.org/obo/CHEBI_21565 node MONDO_0000476 generalized dystonia Editor note: TODO http://purl.obolibrary.org/obo/MONDO_0000476 node Orphanet_94122 Cerebellar ataxia, Cayman type null http://www.orpha.net/ORDO/Orphanet_94122 node PO_0020031 radicle The lower part of the axis of a plant embryo or seedling. http://purl.obolibrary.org/obo/PO_0020031 node EFO_1001505 cystic liver disease null http://www.ebi.ac.uk/efo/EFO_1001505 node MONDO_0007751 hypercholesterolemia, autosomal dominant, type B null http://purl.obolibrary.org/obo/MONDO_0007751 node EFO_0000134 CS57826 null http://www.ebi.ac.uk/efo/EFO_0000134 node HP_0100806 Sepsis null http://purl.obolibrary.org/obo/HP_0100806 node EFO_0005245 body weight loss null http://www.ebi.ac.uk/efo/EFO_0005245 node Orphanet_35656 Coenzyme Q10 deficiency null http://www.orpha.net/ORDO/Orphanet_35656 node EFO_0008555 Methicillin-Resistant Staphylococcus Aureus Infection null http://www.ebi.ac.uk/efo/EFO_0008555 node EFO_0006761 SNU-C1 null http://www.ebi.ac.uk/efo/EFO_0006761 node NCBITaxon_10832 Tomato yellow leaf curl virus null http://purl.obolibrary.org/obo/NCBITaxon_10832 node MONDO_0019142 inherited porphyria Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic http://purl.obolibrary.org/obo/MONDO_0019142 node HP_0009826 Limb undergrowth null http://purl.obolibrary.org/obo/HP_0009826 node Orphanet_85195 Familial expansile osteolysis null http://www.orpha.net/ORDO/Orphanet_85195 node MONDO_0018539 rare epithelial tumor of small intestine null http://purl.obolibrary.org/obo/MONDO_0018539 node MONDO_0003689 familial hemolytic anemia null http://purl.obolibrary.org/obo/MONDO_0003689 node CHEBI_32389 all-cis-octadeca-6,9,12,15-tetraenoic acid null http://purl.obolibrary.org/obo/CHEBI_32389 node CL_0002473 MHC-II-high non-classical monocyte null http://purl.obolibrary.org/obo/CL_0002473 node Orphanet_262010 Partial deletion of the long arm of chromosome 2 null http://www.orpha.net/ORDO/Orphanet_262010 node CL_0000546 T-helper 2 cell This cell type is compatible with the HIPC Lyoplate markers for 'non-Th1/Th17 CD4+ T cell' (see CL:0001051), but includes the additional necessary and sufficient conditions to allow classification as a T-helper 2 T cell. http://purl.obolibrary.org/obo/CL_0000546 node EFO_1000693 erythema infectiosum null http://www.ebi.ac.uk/efo/EFO_1000693 node MONDO_0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis null http://purl.obolibrary.org/obo/MONDO_0032681 node EFO_0008643 3′-Seq null http://www.ebi.ac.uk/efo/EFO_0008643 node NCBITaxon_173 Leptospira interrogans null http://purl.obolibrary.org/obo/NCBITaxon_173 node EFO_0006286 MGC-803 null http://www.ebi.ac.uk/efo/EFO_0006286 node MONDO_0000646 ovarian benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0000646 node Orphanet_1327 Camptodactyly syndrome, Guadalajara type 1 null http://www.orpha.net/ORDO/Orphanet_1327 node OBI_0400106 centrifuge null http://purl.obolibrary.org/obo/OBI_0400106 node CHEBI_30754 anthranilic acid null http://purl.obolibrary.org/obo/CHEBI_30754 node HP_0001876 Pancytopenia null http://purl.obolibrary.org/obo/HP_0001876 node MONDO_0001828 acquired color blindness null http://purl.obolibrary.org/obo/MONDO_0001828 node Orphanet_309334 Salla disease null http://www.orpha.net/ORDO/Orphanet_309334 node CLO_0013794 GM17190 null http://purl.obolibrary.org/obo/CLO_0013794 node NCBITaxon_35554 Geobacter sulfurreducens null http://purl.obolibrary.org/obo/NCBITaxon_35554 node EFO_1000781 overactive bladder null http://www.ebi.ac.uk/efo/EFO_1000781 node HP_0003163 Elevated urinary delta-aminolevulinic acid Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis. http://purl.obolibrary.org/obo/HP_0003163 node EFO_0008067 carbonic anhydrase 13 measurement null http://www.ebi.ac.uk/efo/EFO_0008067 node EFO_1000594 Thyroid Gland Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000594 node Orphanet_324353 Congenital achiasma null http://www.orpha.net/ORDO/Orphanet_324353 node Orphanet_1228 Banki syndrome null http://www.orpha.net/ORDO/Orphanet_1228 node UBERON_0000987 haltere null http://purl.obolibrary.org/obo/UBERON_0000987 node MONDO_0021078 glandular papilloma null http://purl.obolibrary.org/obo/MONDO_0021078 node CL_0002092 bone marrow cell MH consider whether bone marrow cells are bone cells in the structural sense vs. being part of bone organ sense. http://purl.obolibrary.org/obo/CL_0002092 node MONDO_0003197 granular cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0003197 node HP_0003865 Bowed humerus null http://purl.obolibrary.org/obo/HP_0003865 node EFO_0002465 obsolete_inferior colliculus null http://www.ebi.ac.uk/efo/EFO_0002465 node HP_0012211 Abnormal renal physiology null http://purl.obolibrary.org/obo/HP_0012211 node HP_0000322 Short philtrum null http://purl.obolibrary.org/obo/HP_0000322 node Orphanet_2410 Hypergonadotropic hypogonadism - cataract syndrome null http://www.orpha.net/ORDO/Orphanet_2410 node EFO_0004000 Mus musculus strain type null http://www.ebi.ac.uk/efo/EFO_0004000 node EFO_0002278 NCI-H2107 null http://www.ebi.ac.uk/efo/EFO_0002278 node EFO_0002863 STA-ET-2.1 null http://www.ebi.ac.uk/efo/EFO_0002863 node UBERON_0001292 distal convoluted tubule null http://purl.obolibrary.org/obo/UBERON_0001292 node EFO_0007310 histoplasmosis null http://www.ebi.ac.uk/efo/EFO_0007310 node HP_0003549 Abnormality of connective tissue null http://purl.obolibrary.org/obo/HP_0003549 node EFO_0009480 coping behaviour measurement null http://www.ebi.ac.uk/efo/EFO_0009480 node EFO_0009857 ruminative stress response null http://www.ebi.ac.uk/efo/EFO_0009857 node CL_0009004 retinal cell null http://purl.obolibrary.org/obo/CL_0009004 node Orphanet_139491 Hemochromatosis type 4 null http://www.orpha.net/ORDO/Orphanet_139491 node MONDO_0002257 ankylosis (disease) null http://purl.obolibrary.org/obo/MONDO_0002257 node EFO_0008378 mosquito bite reaction size measurement null http://www.ebi.ac.uk/efo/EFO_0008378 node Orphanet_3383 Humerus trochlea aplasia null http://www.orpha.net/ORDO/Orphanet_3383 node CHEBI_9124 sertraline hydrochloride null http://purl.obolibrary.org/obo/CHEBI_9124 node EFO_0002366 SW403 null http://www.ebi.ac.uk/efo/EFO_0002366 node EFO_0002951 virgin null http://www.ebi.ac.uk/efo/EFO_0002951 node MONDO_0002603 angiomyolipoma null http://purl.obolibrary.org/obo/MONDO_0002603 node Orphanet_610 Bethlem myopathy Editor note: consider separating type 1 form http://www.orpha.net/ORDO/Orphanet_610 node Orphanet_405 Familial hypocalciuric hypercalcemia null http://www.orpha.net/ORDO/Orphanet_405 node HP_0000046 Scrotal hypoplasia null http://purl.obolibrary.org/obo/HP_0000046 node MONDO_0002416 ethmoid sinus squamous cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0002416 node EFO_0008466 matrix metalloproteinase 8 measurement null http://www.ebi.ac.uk/efo/EFO_0008466 node NCBITaxon_9704 Zalophus californianus null http://purl.obolibrary.org/obo/NCBITaxon_9704 node MONDO_0002345 cervicitis (disease) null http://purl.obolibrary.org/obo/MONDO_0002345 node CL_1000271 lung ciliated cell null http://purl.obolibrary.org/obo/CL_1000271 node CLO_0022107 AG13145 null http://purl.obolibrary.org/obo/CLO_0022107 node EFO_0002929 microgram per kilogram per day null http://www.ebi.ac.uk/efo/EFO_0002929 node NCBITaxon_1901 Streptomyces clavuligerus null http://purl.obolibrary.org/obo/NCBITaxon_1901 node Orphanet_73223 Global developmental delay - osteopenia - ectodermal defect null http://www.orpha.net/ORDO/Orphanet_73223 node Orphanet_268322 Hereditary thrombocytopenia with normal platelets null http://www.orpha.net/ORDO/Orphanet_268322 node EFO_0005579 pseudohermaphroditism null http://www.ebi.ac.uk/efo/EFO_0005579 node EFO_0002834 MKN74 null http://www.ebi.ac.uk/efo/EFO_0002834 node UO_0000032 hour null http://purl.obolibrary.org/obo/UO_0000032 node FBbt_00001781 prothoracic leg disc null http://purl.obolibrary.org/obo/FBbt_00001781 node UBERON_0003936 postoptic commissure null http://purl.obolibrary.org/obo/UBERON_0003936 node HP_0010747 Medial flaring of the eyebrow null http://purl.obolibrary.org/obo/HP_0010747 node EFO_0005361 CCD-13Lu null http://www.ebi.ac.uk/efo/EFO_0005361 node UBERON_0004707 pharyngula stage null http://purl.obolibrary.org/obo/UBERON_0004707 node EFO_0001033 translation profiling null http://www.ebi.ac.uk/efo/EFO_0001033 node EFO_0000369 compound based treatment null http://www.ebi.ac.uk/efo/EFO_0000369 node Orphanet_206559 Autosomal recessive limb-girdle muscular dystrophy type 2N null http://www.orpha.net/ORDO/Orphanet_206559 node Orphanet_1193 Atkin-Flaitz syndrome null http://www.orpha.net/ORDO/Orphanet_1193 node CHEBI_27561 oxirane null http://purl.obolibrary.org/obo/CHEBI_27561 node EFO_1001458 diabetic cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_1001458 node CHEBI_5855 ibuprofen null http://purl.obolibrary.org/obo/CHEBI_5855 node MONDO_0041806 drug-resistant tuberculosis null http://purl.obolibrary.org/obo/MONDO_0041806 node HP_0007648 Punctate cataract null http://purl.obolibrary.org/obo/HP_0007648 node EFO_0000427 obsolete_dorsomedial neurosecretory cell null http://www.ebi.ac.uk/efo/EFO_0000427 node EFO_0001121 GM11839 null http://www.ebi.ac.uk/efo/EFO_0001121 node EFO_0005262 mitral annular calcification null http://www.ebi.ac.uk/efo/EFO_0005262 node MONDO_0004643 myeloid leukemia null http://purl.obolibrary.org/obo/MONDO_0004643 node EFO_0009165 mental retardation, autosomal dominant 53 null http://www.ebi.ac.uk/efo/EFO_0009165 node CL_0000880 choroid-plexus macrophage null http://purl.obolibrary.org/obo/CL_0000880 node Orphanet_1300 Autosomal dominant popliteal pterygium syndrome Editor note: check logical definition http://www.orpha.net/ORDO/Orphanet_1300 node EFO_0004405 Theiler stage 14 null http://www.ebi.ac.uk/efo/EFO_0004405 node CL_0000997 immature CD8_alpha-negative CD11b-positive dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000010)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0000997 node EFO_0000515 obsolete_brain tumor glioblastoma null http://www.ebi.ac.uk/efo/EFO_0000515 node HP_0007559 Localized epidermolytic hyperkeratosis null http://purl.obolibrary.org/obo/HP_0007559 node EFO_0010001 MAB-seq null http://www.ebi.ac.uk/efo/EFO_0010001 node Orphanet_93303 Brachyolmia type 1, Toledo type null http://www.orpha.net/ORDO/Orphanet_93303 node Orphanet_238505 Autosomal recessive lymphoproliferative disease null http://www.orpha.net/ORDO/Orphanet_238505 node OBI_0000427 enzyme null http://purl.obolibrary.org/obo/OBI_0000427 node PO_0020132 columella root cap cell null http://purl.obolibrary.org/obo/PO_0020132 node UBERON_0004640 renal efferent arteriole null http://purl.obolibrary.org/obo/UBERON_0004640 node EFO_0004147 obsolete_Sotos syndrome null http://www.ebi.ac.uk/efo/EFO_0004147 node Orphanet_99798 Oligodontia null http://www.orpha.net/ORDO/Orphanet_99798 node EFO_0007955 mouth morphology measurement null http://www.ebi.ac.uk/efo/EFO_0007955 node CL_0000781 mononuclear odontoclast Morphology: Mononuclear, highly vesicular; location: roots of deciduous (milk) teeth. http://purl.obolibrary.org/obo/CL_0000781 node CLO_0000019 immortal cell line cell null http://purl.obolibrary.org/obo/CLO_0000019 node Orphanet_79094 Grange syndrome null http://www.orpha.net/ORDO/Orphanet_79094 node Orphanet_320401 Autosomal recessive spastic paraplegia type 44 null http://www.orpha.net/ORDO/Orphanet_320401 node EFO_0010222 ceramide measurement null http://www.ebi.ac.uk/efo/EFO_0010222 node EFO_0007778 urinary albumin to creatinine ratio null http://www.ebi.ac.uk/efo/EFO_0007778 node EFO_0010703 trauma exposure measurement null http://www.ebi.ac.uk/efo/EFO_0010703 node Orphanet_1201 Atresia of small intestine null http://www.orpha.net/ORDO/Orphanet_1201 node CHEBI_15367 all-trans-retinoic acid null http://purl.obolibrary.org/obo/CHEBI_15367 node Orphanet_404473 Severe intellectual disability-progressive spastic diplegia syndrome null http://www.orpha.net/ORDO/Orphanet_404473 node HP_0011031 Abnormality of iron homeostasis null http://purl.obolibrary.org/obo/HP_0011031 node EFO_0010516 orotic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010516 node MONDO_0045044 ligament disease null http://purl.obolibrary.org/obo/MONDO_0045044 node Orphanet_295004 Central polydactyly of fingers null http://www.orpha.net/ORDO/Orphanet_295004 node MONDO_0024661 tubulovillous adenoma null http://purl.obolibrary.org/obo/MONDO_0024661 node Orphanet_263768 Partial duplication of chromosome X null http://www.orpha.net/ORDO/Orphanet_263768 node CHEBI_60175 5-hydroxylysine null http://purl.obolibrary.org/obo/CHEBI_60175 node HP_0007083 Hyperactive patellar reflex null http://purl.obolibrary.org/obo/HP_0007083 node NCBITaxon_9615 Canis lupus familiaris null http://purl.obolibrary.org/obo/NCBITaxon_9615 node EFO_0004235 exfoliation syndrome null http://www.ebi.ac.uk/efo/EFO_0004235 node EFO_0003308 heregulin B1 null http://www.ebi.ac.uk/efo/EFO_0003308 node EFO_0007081 HUES44 null http://www.ebi.ac.uk/efo/EFO_0007081 node UBERON_0002115 jejunum null http://purl.obolibrary.org/obo/UBERON_0002115 node Orphanet_99886 Transient neonatal diabetes mellitus null http://www.orpha.net/ORDO/Orphanet_99886 node Orphanet_2380 Legg-Calvé-Perthes disease null http://www.orpha.net/ORDO/Orphanet_2380 node EFO_0010310 isthmus cingulate cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010310 node EFO_0007866 response to rifampicin null http://www.ebi.ac.uk/efo/EFO_0007866 node MONDO_0017014 interstitial lung disease specific to childhood null http://purl.obolibrary.org/obo/MONDO_0017014 node HP_0030680 Abnormality of cardiovascular system morphology null http://purl.obolibrary.org/obo/HP_0030680 node EFO_0010123 response to antiviral drug null http://www.ebi.ac.uk/efo/EFO_0010123 node EFO_0010604 urine volume measurement null http://www.ebi.ac.uk/efo/EFO_0010604 node GO_0033643 host cell part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0033643 node EFO_0007679 oppositional defiant disorder measurement null http://www.ebi.ac.uk/efo/EFO_0007679 node PO_0007103 LP.10 ten leaves visible stage null http://purl.obolibrary.org/obo/PO_0007103 node GO_0002695 negative regulation of leukocyte activation null http://purl.obolibrary.org/obo/GO_0002695 node EFO_0009987 GAM null http://www.ebi.ac.uk/efo/EFO_0009987 node CLO_0016506 GM17815 null http://purl.obolibrary.org/obo/CLO_0016506 node UBERON_0002203 vasculature of eye null http://purl.obolibrary.org/obo/UBERON_0002203 node EFO_0005085 Illumina HiSeq 1000 standard manufacturer's protocol null http://www.ebi.ac.uk/efo/EFO_0005085 node MONDO_0000425 X-linked disease null http://purl.obolibrary.org/obo/MONDO_0000425 node EFO_0008893 Ribose-seq null http://www.ebi.ac.uk/efo/EFO_0008893 node MONDO_0001165 tongue disease null http://purl.obolibrary.org/obo/MONDO_0001165 node EFO_0007390 necatoriasis null http://www.ebi.ac.uk/efo/EFO_0007390 node HP_0005986 Limitation of neck motion null http://purl.obolibrary.org/obo/HP_0005986 node Orphanet_263463 CHST3-related skeletal dysplasia null http://www.orpha.net/ORDO/Orphanet_263463 node Orphanet_2815 Spastic paraparesis - deafness null http://www.orpha.net/ORDO/Orphanet_2815 node EFO_0006288 NF90-8 null http://www.ebi.ac.uk/efo/EFO_0006288 node MONDO_0000648 nervous system benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0000648 node CLO_0017025 GM17742 null http://purl.obolibrary.org/obo/CLO_0017025 node UBERON_0001673 central retinal vein null http://purl.obolibrary.org/obo/UBERON_0001673 node EFO_0006710 OCI-LY3 null http://www.ebi.ac.uk/efo/EFO_0006710 node Orphanet_325448 Leydig cell hypoplasia due to LHB deficiency null http://www.orpha.net/ORDO/Orphanet_325448 node Orphanet_268826 Parietal encephalocele null http://www.orpha.net/ORDO/Orphanet_268826 node EFO_0006346 severe cutaneous adverse reaction null http://www.ebi.ac.uk/efo/EFO_0006346 node CHEBI_48561 dopaminergic antagonist null http://purl.obolibrary.org/obo/CHEBI_48561 node Orphanet_2783 Autosomal dominant osteopetrosis type 1 null http://www.orpha.net/ORDO/Orphanet_2783 node EFO_0008069 carboxypeptidase B2 measurement null http://www.ebi.ac.uk/efo/EFO_0008069 node EFO_0003183 thrombin null http://www.ebi.ac.uk/efo/EFO_0003183 node Orphanet_2596 Myopathy and diabetes mellitus null http://www.orpha.net/ORDO/Orphanet_2596 node GO_0009260 ribonucleotide biosynthetic process null http://purl.obolibrary.org/obo/GO_0009260 node Orphanet_98641 Syndromic cataract null http://www.orpha.net/ORDO/Orphanet_98641 node Orphanet_293843 Craniofacial-ulnar-renal syndrome null http://www.orpha.net/ORDO/Orphanet_293843 node EFO_1001863 Uterine Inertia null http://www.ebi.ac.uk/efo/EFO_1001863 node EFO_0007560 gene deletion library A nucleic acid library that consists of a collection of gene knockdown reagents, which are capable of reducing the expression of target genes in a biological system. http://www.ebi.ac.uk/efo/EFO_0007560 node EFO_0006611 KMM-1 null http://www.ebi.ac.uk/efo/EFO_0006611 node EFO_0010481 galactose measurement null http://www.ebi.ac.uk/efo/EFO_0010481 node EFO_0006434 HCC2885 null http://www.ebi.ac.uk/efo/EFO_0006434 node Orphanet_397750 Periodic paralysis with later-onset distal motor neuropathy null http://www.orpha.net/ORDO/Orphanet_397750 node EFO_0003271 tumor necrosis factor-alpha null http://www.ebi.ac.uk/efo/EFO_0003271 node HP_0031292 Cutaneous abscess null http://purl.obolibrary.org/obo/HP_0031292 node Orphanet_983 Testicular regression syndrome null http://www.orpha.net/ORDO/Orphanet_983 node Orphanet_101068 Congenital stromal corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_101068 node EFO_1001470 merkel cell null http://www.ebi.ac.uk/efo/EFO_1001470 node EFO_0001290 obsolete_cleavage stage null http://www.ebi.ac.uk/efo/EFO_0001290 node Orphanet_796 Sandhoff disease null http://www.orpha.net/ORDO/Orphanet_796 node EFO_1001951 colorectal carcinoma null http://www.ebi.ac.uk/efo/EFO_1001951 node EFO_0004973 germline genotype null http://www.ebi.ac.uk/efo/EFO_0004973 node UBERON_0002374 metacarpal bone null http://purl.obolibrary.org/obo/UBERON_0002374 node NCBITaxon_158879 Staphylococcus aureus subsp. aureus N315 null http://purl.obolibrary.org/obo/NCBITaxon_158879 node CHEBI_48864 benzothiadiazole null http://purl.obolibrary.org/obo/CHEBI_48864 node Orphanet_180 Choroideremia null http://www.orpha.net/ORDO/Orphanet_180 node EFO_0008239 N-acetyl-D-glucosamine kinase measurement null http://www.ebi.ac.uk/efo/EFO_0008239 node EFO_0005744 CME-W2 null http://www.ebi.ac.uk/efo/EFO_0005744 node HP_0002653 Bone pain null http://purl.obolibrary.org/obo/HP_0002653 node CHEBI_36659 3-(4-hydroxyphenyl)lactate null http://purl.obolibrary.org/obo/CHEBI_36659 node EFO_0003331 zebrafish component null http://www.ebi.ac.uk/efo/EFO_0003331 node Orphanet_3057 Monoamine oxidase A deficiency null http://www.orpha.net/ORDO/Orphanet_3057 node CL_0000970 unswitched memory B cell This cell type is compatible with the HIPC Lyoplate markers for 'IgD+ memory B cell'. Per DSD: Unswitched memory B cells are also reportedly CD48-positive, CD84-positive, CD229-positive, and CD352-positive. http://purl.obolibrary.org/obo/CL_0000970 node EFO_0010392 sphingomyelin 16:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010392 node MONDO_0002605 hepatic angiomyolipoma null http://purl.obolibrary.org/obo/MONDO_0002605 node MONDO_0016169 chronic acquired demyelinating polyneuropathy null http://purl.obolibrary.org/obo/MONDO_0016169 node EFO_0002227 LS174T null http://www.ebi.ac.uk/efo/EFO_0002227 node EFO_0001919 obsolete_dorsal raphe nucleus null http://www.ebi.ac.uk/efo/EFO_0001919 node EFO_0002708 SCN2.2 null http://www.ebi.ac.uk/efo/EFO_0002708 node UBERON_0001744 lymphoid tissue null http://purl.obolibrary.org/obo/UBERON_0001744 node EFO_0009021 Bardet-Biedl syndrome 1 null http://www.ebi.ac.uk/efo/EFO_0009021 node EFO_0010790 monocyte chemotactic protein-4 measurement null http://www.ebi.ac.uk/efo/EFO_0010790 node HP_0002905 Hyperphosphatemia null http://purl.obolibrary.org/obo/HP_0002905 node Orphanet_884 Tetrasomy 12p null http://www.orpha.net/ORDO/Orphanet_884 node MONDO_0002206 sweat gland cancer null http://purl.obolibrary.org/obo/MONDO_0002206 node EFO_0008327 alpha-1-antitrypsin measurement null http://www.ebi.ac.uk/efo/EFO_0008327 node Orphanet_1972 Lethal faciocardiomelic dysplasia null http://www.orpha.net/ORDO/Orphanet_1972 node MONDO_0013419 complement component C1s deficiency null http://purl.obolibrary.org/obo/MONDO_0013419 node Orphanet_329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency null http://www.orpha.net/ORDO/Orphanet_329314 node NCBITaxon_205920 Ehrlichia chaffeensis str. Arkansas null http://purl.obolibrary.org/obo/NCBITaxon_205920 node CHEBI_132030 glycoursodeoxycholate null http://purl.obolibrary.org/obo/CHEBI_132030 node Orphanet_3145 Nephrogenic diabetes insipidus - intracranial calcification null http://www.orpha.net/ORDO/Orphanet_3145 node EFO_0002315 RD null http://www.ebi.ac.uk/efo/EFO_0002315 node Orphanet_221139 Combined immunodeficiency with facio-oculo-skeletal anomalies null http://www.orpha.net/ORDO/Orphanet_221139 node NCBITaxon_4896 Schizosaccharomyces pombe null http://purl.obolibrary.org/obo/NCBITaxon_4896 node HP_0001075 Atrophic scars null http://purl.obolibrary.org/obo/HP_0001075 node Orphanet_276161 Multiple endocrine neoplasia null http://www.orpha.net/ORDO/Orphanet_276161 node EFO_0003055 LP1 null http://www.ebi.ac.uk/efo/EFO_0003055 node EFO_0010673 cardiac transplant null http://www.ebi.ac.uk/efo/EFO_0010673 node MONDO_0017582 pituitary adenocarcinoma (disease) null http://purl.obolibrary.org/obo/MONDO_0017582 node CHEBI_4991 iron(III) dicitrate null http://purl.obolibrary.org/obo/CHEBI_4991 node CHEBI_17859 glutaric acid null http://purl.obolibrary.org/obo/CHEBI_17859 node EFO_0005363 CCD-19Lu null http://www.ebi.ac.uk/efo/EFO_0005363 node EFO_0002057 HCC1008 null http://www.ebi.ac.uk/efo/EFO_0002057 node EFO_0007797 language measurement null http://www.ebi.ac.uk/efo/EFO_0007797 node EFO_0009330 Chlamydia trachomatis seropositivity null http://www.ebi.ac.uk/efo/EFO_0009330 node EFO_0005176 Coimbra ecotype null http://www.ebi.ac.uk/efo/EFO_0005176 node EFO_1000278 Gastric Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000278 node CHEBI_35807 N-nitrosodimethylamine null http://purl.obolibrary.org/obo/CHEBI_35807 node MONDO_0045063 major salivary gland adenoid cystic carcinoma null http://purl.obolibrary.org/obo/MONDO_0045063 node EFO_1000759 reactive cutaneous fibrous lesion null http://www.ebi.ac.uk/efo/EFO_1000759 node Orphanet_124 Blackfan-Diamond anemia null http://www.orpha.net/ORDO/Orphanet_124 node UBERON_0002771 middle temporal gyrus null http://purl.obolibrary.org/obo/UBERON_0002771 node EFO_0010856 HG02943 null http://www.ebi.ac.uk/efo/EFO_0010856 node CHEBI_30746 benzoic acid null http://purl.obolibrary.org/obo/CHEBI_30746 node EFO_1001060 neovascular glaucoma null http://www.ebi.ac.uk/efo/EFO_1001060 node EFO_0006928 motion sickness null http://www.ebi.ac.uk/efo/EFO_0006928 node MONDO_0044916 extrarenal rhabdoid tumor null http://purl.obolibrary.org/obo/MONDO_0044916 node OBI_0000118 gene list null http://purl.obolibrary.org/obo/OBI_0000118 node MONDO_0000837 bone resorption disease null http://purl.obolibrary.org/obo/MONDO_0000837 node HP_0000790 Hematuria null http://purl.obolibrary.org/obo/HP_0000790 node NCBITaxon_29596 Ceratopteris thalictroides null http://purl.obolibrary.org/obo/NCBITaxon_29596 node EFO_0005264 Ect1 null http://www.ebi.ac.uk/efo/EFO_0005264 node EFO_1000366 Mediastinal Malignant Germ Cell Tumor null http://www.ebi.ac.uk/efo/EFO_1000366 node NCBITaxon_7757 Petromyzon marinus null http://purl.obolibrary.org/obo/NCBITaxon_7757 node EFO_0005101 obsolete_anther null http://www.ebi.ac.uk/efo/EFO_0005101 node CL_0000819 B-1 B cell There are small numbers of B-1 cells found in the lymph nodes and spleen, while larger numbers can be found in the peritoneal and pleural cavities. B-1 B cells are reportedly CD11b-positive, CD20-positive, CD21-positive, CD27-positive, CD44-positive, CD45RB-positive, CD48-positive, CD70-negative, CD150-positive, CD244-negative, CD352-positive, sIgM-positive, and sIgD-low. http://purl.obolibrary.org/obo/CL_0000819 node Orphanet_262191 Partial duplication of chromosome 1 null http://www.orpha.net/ORDO/Orphanet_262191 node NCBITaxon_294934 Streptococcus pyogenes M49 591 null http://purl.obolibrary.org/obo/NCBITaxon_294934 node EFO_0005429 borderline personality disorder symptom null http://www.ebi.ac.uk/efo/EFO_0005429 node UO_0000191 fraction null http://purl.obolibrary.org/obo/UO_0000191 node MONDO_0019472 extranodal nasal NK/T cell lymphoma null http://purl.obolibrary.org/obo/MONDO_0019472 node MONDO_0008679 Wilms tumor type 1 null http://purl.obolibrary.org/obo/MONDO_0008679 node CLO_0033909 GM13995 null http://purl.obolibrary.org/obo/CLO_0033909 node Orphanet_254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA null http://www.orpha.net/ORDO/Orphanet_254776 node MONDO_0013775 thrombomodulin-related bleeding disorder null http://purl.obolibrary.org/obo/MONDO_0013775 node EFO_0008496 chronic hepatitis Acute cases of hepatitis are seen to be resolved well within a six-month period. When hepatitis is continued for more than six months it is termed chronic hepatitis. http://www.ebi.ac.uk/efo/EFO_0008496 node MONDO_0019139 acquired hemophilia null http://purl.obolibrary.org/obo/MONDO_0019139 node MONDO_0100038 complex neurodevelopmental disorder null http://purl.obolibrary.org/obo/MONDO_0100038 node Orphanet_96105 Distal trisomy 13q null http://www.orpha.net/ORDO/Orphanet_96105 node CL_0000907 central memory CD8-positive, alpha-beta T cell This cell type is compatible with the HIPC Lyoplate markers for 'central memory CD8+ T cell', but includes additional markers known to be expressed on central memory CD8+ T cells. http://purl.obolibrary.org/obo/CL_0000907 node Orphanet_2399 Nasopalpebral lipoma - coloboma - telecanthus null http://www.orpha.net/ORDO/Orphanet_2399 node EFO_0005036 platelet measurement null http://www.ebi.ac.uk/efo/EFO_0005036 node MONDO_0000502 villous adenoma null http://purl.obolibrary.org/obo/MONDO_0000502 node CLO_0016453 GM17845 null http://purl.obolibrary.org/obo/CLO_0016453 node Orphanet_79096 Pyridoxal phosphate-responsive seizures null http://www.orpha.net/ORDO/Orphanet_79096 node Orphanet_2152 Mowat-Wilson syndrome null http://www.orpha.net/ORDO/Orphanet_2152 node MONDO_0014957 language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia null http://purl.obolibrary.org/obo/MONDO_0014957 node Orphanet_309108 Pancreatic colipase deficiency null http://www.orpha.net/ORDO/Orphanet_309108 node HP_0002987 Elbow flexion contracture null http://purl.obolibrary.org/obo/HP_0002987 node MONDO_0030037 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures null http://purl.obolibrary.org/obo/MONDO_0030037 node Orphanet_401795 Autosomal recessive spastic paraplegia type 59 null http://www.orpha.net/ORDO/Orphanet_401795 node EFO_1002048 kidney failure null http://www.ebi.ac.uk/efo/EFO_1002048 node EFO_0008584 Subsequent ST elevation (STEMI) and non-ST elevation (NSTEMI) myocardial infarction null http://www.ebi.ac.uk/efo/EFO_0008584 node NCBITaxon_413496 Cronobacter null http://purl.obolibrary.org/obo/NCBITaxon_413496 node MONDO_0100126 P5CS deficiency null http://purl.obolibrary.org/obo/MONDO_0100126 node MONDO_0018109 fulminant viral hepatitis null http://purl.obolibrary.org/obo/MONDO_0018109 node HP_0012276 Digital flexor tenosynovitis Tenosynovitis refers to inflammation of the protective sheath that surrounds a tendon. Stenosing tenosynovitis, or trigger finger, is diagnosed when a patient presents with a symptomatic locking or clicking of a finger or the thumb. It is caused by a mismatch between the volume of the flexor tendon sheath and its contents. As the flexor tendon attempts to glide through a relatively stenotic sheath, it catches, producing an inability to flex or extend the digit smoothly. http://purl.obolibrary.org/obo/HP_0012276 node MONDO_0012197 idiopathic aplastic anemia null http://purl.obolibrary.org/obo/MONDO_0012197 node UBERON_0008897 fin null http://purl.obolibrary.org/obo/UBERON_0008897 node CHEBI_25982 phenylacetylglutamine null http://purl.obolibrary.org/obo/CHEBI_25982 node HP_0030775 Modic type vertebral endplate changes null http://purl.obolibrary.org/obo/HP_0030775 node MONDO_0021121 hemangioendothelioma null http://purl.obolibrary.org/obo/MONDO_0021121 node EFO_1001882 cutaneous nodular amyloidosis null http://www.ebi.ac.uk/efo/EFO_1001882 node Orphanet_370034 Familial syringomyelia null http://www.orpha.net/ORDO/Orphanet_370034 node CLO_0014409 GM17249 null http://purl.obolibrary.org/obo/CLO_0014409 node EFO_0002795 HUVEC cell line null http://www.ebi.ac.uk/efo/EFO_0002795 node MONDO_0023619 lentigo maligna melanoma null http://purl.obolibrary.org/obo/MONDO_0023619 node MONDO_0001658 nontoxic goiter null http://purl.obolibrary.org/obo/MONDO_0001658 node HP_0007010 Poor fine motor coordination null http://purl.obolibrary.org/obo/HP_0007010 node MONDO_0008913 cardiac valvular defect, developmental null http://purl.obolibrary.org/obo/MONDO_0008913 node HP_0000319 Smooth philtrum There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately. http://purl.obolibrary.org/obo/HP_0000319 node Orphanet_2407 LOC syndrome null http://www.orpha.net/ORDO/Orphanet_2407 node EFO_0008895 RIL-seq null http://www.ebi.ac.uk/efo/EFO_0008895 node MONDO_0024352 viral respiratory tract infection null http://purl.obolibrary.org/obo/MONDO_0024352 node HP_0009049 Peroneal muscle atrophy The peroneus muscles (longus, brevis, and tertius) originate on the fibula and insert on the metatarsals. http://purl.obolibrary.org/obo/HP_0009049 node NCBITaxon_7141 Choristoneura fumiferana null http://purl.obolibrary.org/obo/NCBITaxon_7141 node MONDO_0002597 notochordal tumor null http://purl.obolibrary.org/obo/MONDO_0002597 node EFO_0001931 obsolete_hypocotyl null http://www.ebi.ac.uk/efo/EFO_0001931 node EFO_0001241 SUM159PT null http://www.ebi.ac.uk/efo/EFO_0001241 node Orphanet_79167 Disorder of urea cycle metabolism and ammonia detoxification null http://www.orpha.net/ORDO/Orphanet_79167 node EFO_0001064 Down syndrome May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future http://www.ebi.ac.uk/efo/EFO_0001064 node UBERON_0001347 white adipose tissue null http://purl.obolibrary.org/obo/UBERON_0001347 node EFO_0008417 susceptibility to common cold measurement null http://www.ebi.ac.uk/efo/EFO_0008417 node NCBITaxon_7668 Strongylocentrotus purpuratus null http://purl.obolibrary.org/obo/NCBITaxon_7668 node CHEBI_82913 3-O-methyldopa null http://purl.obolibrary.org/obo/CHEBI_82913 node EFO_0003875 peripheral vascular disease null http://www.ebi.ac.uk/efo/EFO_0003875 node Orphanet_99736 Acetazolamide-responsive myotonia null http://www.orpha.net/ORDO/Orphanet_99736 node Orphanet_487 Krabbe disease Pathogenesis: rapid and nearly complete disappearance of myelin and myelin-forming cells--the oligodendrocytes in the central nervous system and the Schwann cells in the peripheral nervous system, reactive astroytic gliosis, and infiltration of the unique and often multinucleated macrophages ("globoid cells") that contain strongly periodic acid-Schiff (PAS)-positive materials. A normally insignificant but highly cytotoxic metabolite, galactosylsphingosine (psychosine), is also a substrate of galactosylceramidase and is considered to play a critical role in the pathogenesis[PMID:14572137] http://www.orpha.net/ORDO/Orphanet_487 node Orphanet_607 Nemaline myopathy null http://www.orpha.net/ORDO/Orphanet_607 node Orphanet_88919 Autosomal recessive Alport syndrome null http://www.orpha.net/ORDO/Orphanet_88919 node EFO_0000798 obsolete_haemopoietic system null http://www.ebi.ac.uk/efo/EFO_0000798 node Orphanet_207012 Spinal muscular atrophy associated with central nervous system anomaly null http://www.orpha.net/ORDO/Orphanet_207012 node GO_0051641 cellular localization null http://purl.obolibrary.org/obo/GO_0051641 node Orphanet_216718 Isolated congenitally uncorrected transposition of the great arteries null http://www.orpha.net/ORDO/Orphanet_216718 node HP_0001555 Asymmetry of the thorax null http://purl.obolibrary.org/obo/HP_0001555 node MONDO_0012431 diaphragmatic hernia 3 null http://purl.obolibrary.org/obo/MONDO_0012431 node NCBITaxon_190650 Caulobacter crescentus CB15 null http://purl.obolibrary.org/obo/NCBITaxon_190650 node EFO_0007152 Arterivirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007152 node EFO_0002091 biological replicate null http://www.ebi.ac.uk/efo/EFO_0002091 node CL_0000989 CD11c-low plasmacytoid dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000001)(PMID:19243617). These cells are CD281-positive (TLR1), CD282-positive (TLR2), CD285-positive (TLR5), CD286-positive (TLR6), and CD288-positive (TLR8). http://purl.obolibrary.org/obo/CL_0000989 node EFO_0003963 freckles null http://www.ebi.ac.uk/efo/EFO_0003963 node Orphanet_575 Muckle-Wells syndrome null http://www.orpha.net/ORDO/Orphanet_575 node MONDO_0017261 systemic diseases with panuveitis null http://purl.obolibrary.org/obo/MONDO_0017261 node Orphanet_98619 Rare isolated myopia null http://www.orpha.net/ORDO/Orphanet_98619 node Orphanet_357058 Autosomal recessive cutis laxa type 2A null http://www.orpha.net/ORDO/Orphanet_357058 node Orphanet_251347 Ataxia-telangiectasia-like disorder null http://www.orpha.net/ORDO/Orphanet_251347 node EFO_0000905 obsolete_globus pallidus null http://www.ebi.ac.uk/efo/EFO_0000905 node EFO_0008018 alpha-1-antichymotrypsin complex measurement null http://www.ebi.ac.uk/efo/EFO_0008018 node UBERON_0000069 larval stage null http://purl.obolibrary.org/obo/UBERON_0000069 node HP_0001643 Patent ductus arteriosus null http://purl.obolibrary.org/obo/HP_0001643 node NCBITaxon_192452 Cocksfoot streak virus null http://purl.obolibrary.org/obo/NCBITaxon_192452 node EFO_0003110 villitis null http://www.ebi.ac.uk/efo/EFO_0003110 node EFO_0007240 dourine null http://www.ebi.ac.uk/efo/EFO_0007240 node EFO_1001409 Pyomyositis null http://www.ebi.ac.uk/efo/EFO_1001409 node Orphanet_371235 Congenital disorder of glycosylation with developmental anomaly null http://www.orpha.net/ORDO/Orphanet_371235 node Orphanet_313892 Developmental and speech delay due to SOX5 deficiency null http://www.orpha.net/ORDO/Orphanet_313892 node EFO_0010459 aminoadipic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010459 node CHEBI_85842 triacylglycerol 56:4 null http://purl.obolibrary.org/obo/CHEBI_85842 node EFO_1000836 benign monoclonal gammopathy null http://www.ebi.ac.uk/efo/EFO_1000836 node MONDO_0017824 familial isolated pituitary adenoma Editor note: TODO check this http://purl.obolibrary.org/obo/MONDO_0017824 node Orphanet_217330 Hyperuricemia - anemia - renal failure null http://www.orpha.net/ORDO/Orphanet_217330 node CHEBI_30823 oleate null http://purl.obolibrary.org/obo/CHEBI_30823 node EFO_0004576 fetal hemoglobin measurement null http://www.ebi.ac.uk/efo/EFO_0004576 node EFO_0004399 Theiler stage 7 null http://www.ebi.ac.uk/efo/EFO_0004399 node EFO_0010066 corneal hysteresis null http://www.ebi.ac.uk/efo/EFO_0010066 node CLO_0014889 GM17108 null http://purl.obolibrary.org/obo/CLO_0014889 node MONDO_0007743 attention deficit-hyperactivity disorder null http://purl.obolibrary.org/obo/MONDO_0007743 node EFO_0010547 ursodeoxycholate measurement null http://www.ebi.ac.uk/efo/EFO_0010547 node EFO_0000070 CS57714 null http://www.ebi.ac.uk/efo/EFO_0000070 node EFO_1000924 epilepsia partialis continua null http://www.ebi.ac.uk/efo/EFO_1000924 node Orphanet_1453 Cleidorhizomelic syndrome null http://www.orpha.net/ORDO/Orphanet_1453 node EFO_0000480 event death null http://www.ebi.ac.uk/efo/EFO_0000480 node Orphanet_171612 Autosomal dominant spastic paraplegia type 37 null http://www.orpha.net/ORDO/Orphanet_171612 node EFO_1001161 rheumatic heart disease null http://www.ebi.ac.uk/efo/EFO_1001161 node CHEBI_30911 glucitol null http://purl.obolibrary.org/obo/CHEBI_30911 node EFO_0000293 obsolete_bladder mucosa null http://www.ebi.ac.uk/efo/EFO_0000293 node EFO_0004664 binding site identification design null http://www.ebi.ac.uk/efo/EFO_0004664 node EFO_1000057 nasal cavity squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_1000057 node EFO_0005711 HPDE6-E6E7 null http://www.ebi.ac.uk/efo/EFO_0005711 node EFO_0005506 elongating embryo Ce null http://www.ebi.ac.uk/efo/EFO_0005506 node MONDO_0024934 fish disease null http://purl.obolibrary.org/obo/MONDO_0024934 node EFO_0010154 platinum measurement null http://www.ebi.ac.uk/efo/EFO_0010154 node HP_0002344 Progressive neurologic deterioration null http://purl.obolibrary.org/obo/HP_0002344 node Orphanet_231531 Hermansky-Pudlak syndrome type 7 null http://www.orpha.net/ORDO/Orphanet_231531 node EFO_0010635 Weiss-Kruszka syndrome null http://www.ebi.ac.uk/efo/EFO_0010635 node NCBITaxon_55583 Dehalobacter restrictus null http://purl.obolibrary.org/obo/NCBITaxon_55583 node Orphanet_322126 Genetic tumor of hematopoietic and lymphoid tissues null http://www.orpha.net/ORDO/Orphanet_322126 node Orphanet_295112 Congenital absence/hypoplasia of thumb, bilateral null http://www.orpha.net/ORDO/Orphanet_295112 node OBI_0400115 spectrophotometer null http://purl.obolibrary.org/obo/OBI_0400115 node Orphanet_85292 X-linked spinocerebellar ataxia type 4 null http://www.orpha.net/ORDO/Orphanet_85292 node EFO_0000381 obsolete_corpus striatum null http://www.ebi.ac.uk/efo/EFO_0000381 node EFO_0004752 parathyroid hormone measurement null http://www.ebi.ac.uk/efo/EFO_0004752 node EFO_1001062 nodular goiter null http://www.ebi.ac.uk/efo/EFO_1001062 node MONDO_0000992 heart conduction disease null http://purl.obolibrary.org/obo/MONDO_0000992 node UBERON_2000073 somite 5 null http://purl.obolibrary.org/obo/UBERON_2000073 node Orphanet_295229 Congenital genu recurvatum null http://www.orpha.net/ORDO/Orphanet_295229 node GO_1903491 response to simvastatin null http://purl.obolibrary.org/obo/GO_1903491 node HP_0011028 Abnormality of blood circulation null http://purl.obolibrary.org/obo/HP_0011028 node EFO_0006338 pit and fissure surface dental caries null http://www.ebi.ac.uk/efo/EFO_0006338 node Orphanet_1606 1p36 deletion syndrome null http://www.orpha.net/ORDO/Orphanet_1606 node EFO_0005815 tauopathy null http://www.ebi.ac.uk/efo/EFO_0005815 node Orphanet_199627 Atypical autism null http://www.orpha.net/ORDO/Orphanet_199627 node CLO_0027391 GM15245 null http://purl.obolibrary.org/obo/CLO_0027391 node UBERON_2000294 torus lateralis null http://purl.obolibrary.org/obo/UBERON_2000294 node EFO_0009938 Anilide use measurement null http://www.ebi.ac.uk/efo/EFO_0009938 node EFO_0008967 TCR-LA-MC PCR null http://www.ebi.ac.uk/efo/EFO_0008967 node EFO_0006426 HCC1482 null http://www.ebi.ac.uk/efo/EFO_0006426 node Orphanet_79444 Pseudohypoparathyroidism type 1C null http://www.orpha.net/ORDO/Orphanet_79444 node EFO_0005903 KBM-7 null http://www.ebi.ac.uk/efo/EFO_0005903 node Orphanet_79239 Classic galactosemia null http://www.orpha.net/ORDO/Orphanet_79239 node EFO_0009545 esophageal varices null http://www.ebi.ac.uk/efo/EFO_0009545 node EFO_0008498 clear cell sarcoma Clear-cell sarcoma (formerly known as malignant melanoma of the soft parts) is a rare form of cancer called sarcoma. It is known to occur mainly in the soft tissues and dermis. http://www.ebi.ac.uk/efo/EFO_0008498 node EFO_0007751 ES-E14TG2a.4 null http://www.ebi.ac.uk/efo/EFO_0007751 node NCBITaxon_146500 Watermelon mosaic virus null http://purl.obolibrary.org/obo/NCBITaxon_146500 node NCBITaxon_83526 Lactobacillus paralimentarius null http://purl.obolibrary.org/obo/NCBITaxon_83526 node NCBITaxon_1587 Lactobacillus helveticus null http://purl.obolibrary.org/obo/NCBITaxon_1587 node CHEBI_28568 piperazine null http://purl.obolibrary.org/obo/CHEBI_28568 node EFO_0006824 cis/trans-18:2 fatty acid measurement null http://www.ebi.ac.uk/efo/EFO_0006824 node MONDO_0002453 retrocochlear disease null http://purl.obolibrary.org/obo/MONDO_0002453 node NCBITaxon_59689 Arabidopsis lyrata null http://purl.obolibrary.org/obo/NCBITaxon_59689 node CHEBI_6775 mesalamine null http://purl.obolibrary.org/obo/CHEBI_6775 node Orphanet_2897 Pityriasis rubra pilaris null http://www.orpha.net/ORDO/Orphanet_2897 node EFO_0002960 BG03 null http://www.ebi.ac.uk/efo/EFO_0002960 node CHEBI_18243 dopamine null http://purl.obolibrary.org/obo/CHEBI_18243 node Orphanet_79327 ALG1-CDG null http://www.orpha.net/ORDO/Orphanet_79327 node EFO_0008586 Non-ST Elevation Myocardial Infarction null http://www.ebi.ac.uk/efo/EFO_0008586 node MONDO_0002060 intraductal papilloma null http://purl.obolibrary.org/obo/MONDO_0002060 node EFO_0009633 tissue donor null http://www.ebi.ac.uk/efo/EFO_0009633 node EFO_0009428 synthetic lethality null http://www.ebi.ac.uk/efo/EFO_0009428 node EFO_0006912 Radiation-induced nausea and vomiting null http://www.ebi.ac.uk/efo/EFO_0006912 node EFO_0006707 OCI-AML5 null http://www.ebi.ac.uk/efo/EFO_0006707 node EFO_1001977 3MC syndrome 2 null http://www.ebi.ac.uk/efo/EFO_1001977 node EFO_0001785 operon identification design null http://www.ebi.ac.uk/efo/EFO_0001785 node Orphanet_101041 Familial hypofibrinogenemia null http://www.orpha.net/ORDO/Orphanet_101041 node NCBITaxon_44056 Aureococcus anophagefferens null http://purl.obolibrary.org/obo/NCBITaxon_44056 node EFO_0009234 Blood Cell Count with Differential null http://www.ebi.ac.uk/efo/EFO_0009234 node Orphanet_98794 Angelman syndrome due to maternal 15q11q13 deletion null http://www.orpha.net/ORDO/Orphanet_98794 node MONDO_0014326 nemaline myopathy 9 null http://purl.obolibrary.org/obo/MONDO_0014326 node Orphanet_3137 Alpha-N-acetylgalactosaminidase deficiency null http://www.orpha.net/ORDO/Orphanet_3137 node Orphanet_1777 Temtamy syndrome null http://www.orpha.net/ORDO/Orphanet_1777 node Orphanet_98638 Rare disease with glaucoma as a major feature null http://www.orpha.net/ORDO/Orphanet_98638 node EFO_1001379 neuroleptic malignant syndrome null http://www.ebi.ac.uk/efo/EFO_1001379 node Orphanet_2218 Cervical hypertrichosis - peripheral neuropathy null http://www.orpha.net/ORDO/Orphanet_2218 node NCBITaxon_64684 Buchnera sp. null http://purl.obolibrary.org/obo/NCBITaxon_64684 node HP_0004855 Reduced protein S activity Protein S functions as a cofactor to Protein C in the inactivation of Factors Va and VIIIa in the coagulation pathway. Therefore, a defect in protein S is associated with an increased risk of thrombosis. http://purl.obolibrary.org/obo/HP_0004855 node EFO_1000423 Ovarian Leydig Cell Tumor null http://www.ebi.ac.uk/efo/EFO_1000423 node EFO_0010478 fructose-1-phosphate measurement null http://www.ebi.ac.uk/efo/EFO_0010478 node EFO_0009322 proliferative diabetic retinopathy null http://www.ebi.ac.uk/efo/EFO_0009322 node EFO_0008300 TNF-related apoptosis-inducing ligand measurement null http://www.ebi.ac.uk/efo/EFO_0008300 node MONDO_0003002 dysgerminoma (disease) null http://purl.obolibrary.org/obo/MONDO_0003002 node Orphanet_1865 Dyssegmental dysplasia, Silverman-Handmaker type null http://www.orpha.net/ORDO/Orphanet_1865 node UBERON_6005413 anlage in statu nascendi null http://purl.obolibrary.org/obo/UBERON_6005413 node EFO_0009135 leigh syndrome due to mitochondrial complex iv deficiency null http://www.ebi.ac.uk/efo/EFO_0009135 node NCBITaxon_8386 Bufo marinus null http://purl.obolibrary.org/obo/NCBITaxon_8386 node CHEBI_83058 1-linoleoyl-sn-glycero-3-phosphoethanolamine null http://purl.obolibrary.org/obo/CHEBI_83058 node EFO_1001467 Hypereosinophilic syndrome null http://www.ebi.ac.uk/efo/EFO_1001467 node MONDO_0000104 anemia, hypochromic microcytic with iron overload null http://purl.obolibrary.org/obo/MONDO_0000104 node EFO_1001948 childhood T lymphoblastic lymphoma null http://www.ebi.ac.uk/efo/EFO_1001948 node UBERON_0000013 sympathetic nervous system null http://purl.obolibrary.org/obo/UBERON_0000013 node Orphanet_251038 3q29 microduplication null http://www.orpha.net/ORDO/Orphanet_251038 node MONDO_0032914 ciliary dyskinesia, primary, 44 null http://purl.obolibrary.org/obo/MONDO_0032914 node Orphanet_141152 Isolated congenital hypoglossia/aglossia null http://www.orpha.net/ORDO/Orphanet_141152 node EFO_1000030 gastric tubular adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000030 node UBERON_0019189 carotid artery endothelium null http://purl.obolibrary.org/obo/UBERON_0019189 node EFO_1000511 Rhabdoid Meningioma null http://www.ebi.ac.uk/efo/EFO_1000511 node EFO_0010566 intellectual developmental disorder 60 with seizures null http://www.ebi.ac.uk/efo/EFO_0010566 node EFO_0009849 sexual arousal null http://www.ebi.ac.uk/efo/EFO_0009849 node EFO_0003533 obsolete_caudal tuberal nucleus null http://www.ebi.ac.uk/efo/EFO_0003533 node CLO_0014950 GM17117 null http://purl.obolibrary.org/obo/CLO_0014950 node HP_0002579 Gastrointestinal dysmotility null http://purl.obolibrary.org/obo/HP_0002579 node EFO_0001081 267B1 Ki-ras null http://www.ebi.ac.uk/efo/EFO_0001081 node CHEBI_64147 5-nonyloxytryptamine oxalate null http://purl.obolibrary.org/obo/CHEBI_64147 node NCBITaxon_228399 Actinobacillus pleuropneumoniae serovar 1 str. 4074 null http://purl.obolibrary.org/obo/NCBITaxon_228399 node EFO_1000732 mediastinal lipomatosis null http://www.ebi.ac.uk/efo/EFO_1000732 node Orphanet_300576 Oligodontia - cancer predisposition syndrome null http://www.orpha.net/ORDO/Orphanet_300576 node EFO_0008201 kynureninase measurement null http://www.ebi.ac.uk/efo/EFO_0008201 node MONDO_0015822 acquired neutropenia null http://purl.obolibrary.org/obo/MONDO_0015822 node EFO_0000203 monoclonal gammopathy null http://www.ebi.ac.uk/efo/EFO_0000203 node Orphanet_57782 Mazabraud syndrome null http://www.orpha.net/ORDO/Orphanet_57782 node MONDO_0003335 chronic polyneuropathy null http://purl.obolibrary.org/obo/MONDO_0003335 node EFO_0005314 femtomole per nanogram null http://www.ebi.ac.uk/efo/EFO_0005314 node EFO_0004343 waist-hip ratio null http://www.ebi.ac.uk/efo/EFO_0004343 node NCBITaxon_152263 Xanthomonas translucens pv. cerealis null http://purl.obolibrary.org/obo/NCBITaxon_152263 node EFO_0003416 obsolete_lateral cord surface glia null http://www.ebi.ac.uk/efo/EFO_0003416 node CHEBI_6067 isotretinoin null http://purl.obolibrary.org/obo/CHEBI_6067 node EFO_0003824 eye neoplasm null http://www.ebi.ac.uk/efo/EFO_0003824 node CHEBI_28640 lipoteichoic Acid null http://purl.obolibrary.org/obo/CHEBI_28640 node HP_0011848 Abdominal colic Colicky abdominal pain can be caused by kidney stones and gallstones, among other etiologies. This type of pain is thought to be caused by spasm, obstruction, or distension of any of the hollow viscera of the gastrointestinal system. http://purl.obolibrary.org/obo/HP_0011848 node EFO_1000134 Borderline Fallopian Tube Serous Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000134 node EFO_1000615 utering smooth muscle cell null http://www.ebi.ac.uk/efo/EFO_1000615 node UBERON_0002066 umbilical vein null http://purl.obolibrary.org/obo/UBERON_0002066 node EFO_0003637 obsolete_pharyngeal pouch 4 null http://www.ebi.ac.uk/efo/EFO_0003637 node CL_0000773 eosinophilic metamyelocyte null http://purl.obolibrary.org/obo/CL_0000773 node HP_0008942 Acute rhabdomyolysis null http://purl.obolibrary.org/obo/HP_0008942 node MONDO_0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities null http://purl.obolibrary.org/obo/MONDO_0060760 node ZFA_0000563 pectoral fin musculature null http://purl.obolibrary.org/obo/ZFA_0000563 node EFO_0010712 fused extravillous trophoblast Made as a placeholder for AE anatomagrams, term should be requested in UBERON. http://www.ebi.ac.uk/efo/EFO_0010712 node Orphanet_31150 Tangier disease null http://www.orpha.net/ORDO/Orphanet_31150 node EFO_0005402 response to low sodium diet null http://www.ebi.ac.uk/efo/EFO_0005402 node EFO_0006789 typhoid fever null http://www.ebi.ac.uk/efo/EFO_0006789 node EFO_1000222 Ductal or Ductular Proliferation Editor note: consider obsoleting http://www.ebi.ac.uk/efo/EFO_1000222 node HP_0010450 Esophageal stenosis null http://purl.obolibrary.org/obo/HP_0010450 node EFO_0003725 obsolete_kidney (Pan troglodytes) null http://www.ebi.ac.uk/efo/EFO_0003725 node EFO_0006571 EFO-27 null http://www.ebi.ac.uk/efo/EFO_0006571 node EFO_0010800 tumor necrosis factor ligand superfamily member 10 measurement null http://www.ebi.ac.uk/efo/EFO_0010800 node MONDO_0017023 secondary interstitial lung disease specific to childhood associated with a granulomatous disease null http://purl.obolibrary.org/obo/MONDO_0017023 node EFO_0007367 middle lobe syndrome null http://www.ebi.ac.uk/efo/EFO_0007367 node NCBITaxon_29341 Clostridium argentinense null http://purl.obolibrary.org/obo/NCBITaxon_29341 node HP_0001405 Periportal fibrosis Liver fibrosis is not only the result of necrosis, collapse and scar formation but also the result of derangements in the synthesis and degradation of matrix by injured mesenchymal cells. http://purl.obolibrary.org/obo/HP_0001405 node EFO_0000072 CS57716 null http://www.ebi.ac.uk/efo/EFO_0000072 node Orphanet_50942 Keratosis palmoplantaris striata null http://www.orpha.net/ORDO/Orphanet_50942 node NCBITaxon_1480153 Marchantia polymorpha subsp. polymorpha null http://purl.obolibrary.org/obo/NCBITaxon_1480153 node EFO_0009996 ddMDA null http://www.ebi.ac.uk/efo/EFO_0009996 node FBbt_00005568 embryonic antennal sense organ null http://purl.obolibrary.org/obo/FBbt_00005568 node EFO_0000419 obsolete_dorsal imaginal precursor null http://www.ebi.ac.uk/efo/EFO_0000419 node MONDO_0021147 disorder of development or morphogenesis null http://purl.obolibrary.org/obo/MONDO_0021147 node EFO_1000310 Juvenile Polyp null http://www.ebi.ac.uk/efo/EFO_1000310 node UBERON_0003112 olfactory region null http://purl.obolibrary.org/obo/UBERON_0003112 node Orphanet_166038 Metaphyseal chondrodysplasia, Kaitila type null http://www.orpha.net/ORDO/Orphanet_166038 node MONDO_0019469 T-cell large granular lymphocyte leukemia null http://purl.obolibrary.org/obo/MONDO_0019469 node EFO_0007455 progressive multifocal leukoencephalopathy null http://www.ebi.ac.uk/efo/EFO_0007455 node CHEBI_32393 erucate null http://purl.obolibrary.org/obo/CHEBI_32393 node Orphanet_276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency null http://www.orpha.net/ORDO/Orphanet_276603 node HP_0030016 Dyspareunia Dyspareunia can develop secondary to medical problems such as vestibulitis, vaginal atrophy, or vaginal infection. It can be either physiologically or psychologically based, or a combination of the two. http://purl.obolibrary.org/obo/HP_0030016 node EFO_0005293 B-lymphoblast null http://www.ebi.ac.uk/efo/EFO_0005293 node UBERON_0005588 rhombomere 8 floor plate null http://purl.obolibrary.org/obo/UBERON_0005588 node EFO_0000507 generation Quality? Is this intrinsic to the organism? http://www.ebi.ac.uk/efo/EFO_0000507 node CHEBI_48278 serotonergic drug null http://purl.obolibrary.org/obo/CHEBI_48278 node MONDO_0018764 microcephalic primordial dwarfism due to RTTN deficiency null http://purl.obolibrary.org/obo/MONDO_0018764 node EFO_0007056 clinical treatment null http://www.ebi.ac.uk/efo/EFO_0007056 node NCBITaxon_231010 Arthroderma racemosum null http://purl.obolibrary.org/obo/NCBITaxon_231010 node EFO_0006515 angiotensin-converting enzyme measurement null http://www.ebi.ac.uk/efo/EFO_0006515 node Orphanet_1144 Arthrogryposis-like hand anomaly - sensorineural deafness null http://www.orpha.net/ORDO/Orphanet_1144 node Orphanet_268835 Lipomyelomeningocele null http://www.orpha.net/ORDO/Orphanet_268835 node Orphanet_2588 Myhre syndrome null http://www.orpha.net/ORDO/Orphanet_2588 node Orphanet_98650 Craniofacial anomaly with cataract null http://www.orpha.net/ORDO/Orphanet_98650 node EFO_0008071 catalase measurement null http://www.ebi.ac.uk/efo/EFO_0008071 node EFO_0007144 amebiasis null http://www.ebi.ac.uk/efo/EFO_0007144 node EFO_1000393 Neuroblastic Tumor null http://www.ebi.ac.uk/efo/EFO_1000393 node EFO_0002979 ILSXISS23/TejJ null http://www.ebi.ac.uk/efo/EFO_0002979 node EFO_0006603 JHH-7 null http://www.ebi.ac.uk/efo/EFO_0006603 node EFO_0008292 stem Cell Growth Factor beta measurement null http://www.ebi.ac.uk/efo/EFO_0008292 node NCBITaxon_9999 Spermophilus parryii null http://purl.obolibrary.org/obo/NCBITaxon_9999 node EFO_0008751 G4-seq null http://www.ebi.ac.uk/efo/EFO_0008751 node MONDO_0008691 zinc, elevated plasma null http://purl.obolibrary.org/obo/MONDO_0008691 node EFO_0006394 G-361 null http://www.ebi.ac.uk/efo/EFO_0006394 node Orphanet_69735 Hypotrichosis - lymphedema - telangiectasia null http://www.orpha.net/ORDO/Orphanet_69735 node HP_0001399 Hepatic failure null http://purl.obolibrary.org/obo/HP_0001399 node EFO_0001355 infant null http://www.ebi.ac.uk/efo/EFO_0001355 node EFO_0000771 bacterial disease null http://www.ebi.ac.uk/efo/EFO_0000771 node EFO_0001178 HCC2185 null http://www.ebi.ac.uk/efo/EFO_0001178 node Orphanet_2489 Upper limb defect - eye and ear abnormalities null http://www.orpha.net/ORDO/Orphanet_2489 node EFO_1000481 Plantar Fibromatosis null http://www.ebi.ac.uk/efo/EFO_1000481 node Orphanet_85324 X-linked intellectual disability, Shrimpton type null http://www.orpha.net/ORDO/Orphanet_85324 node CLO_0031585 GM14581 null http://purl.obolibrary.org/obo/CLO_0031585 node Orphanet_93421 Type 2 collagen-related bone disorder null http://www.orpha.net/ORDO/Orphanet_93421 node Orphanet_2460 Van den Ende-Gupta syndrome null http://www.orpha.net/ORDO/Orphanet_2460 node EFO_0008380 perceived unattractiveness to mosquitos measurement null http://www.ebi.ac.uk/efo/EFO_0008380 node HP_0003752 Episodic flaccid weakness null http://purl.obolibrary.org/obo/HP_0003752 node NCBITaxon_15368 Brachypodium distachyon null http://purl.obolibrary.org/obo/NCBITaxon_15368 node EFO_0003136 HCC78 null http://www.ebi.ac.uk/efo/EFO_0003136 node CHEBI_27899 cisplatin null http://purl.obolibrary.org/obo/CHEBI_27899 node EFO_0002165 DMS53 null http://www.ebi.ac.uk/efo/EFO_0002165 node EFO_0009013 in vitro transcription null http://www.ebi.ac.uk/efo/EFO_0009013 node UO_0000002 mass unit null http://purl.obolibrary.org/obo/UO_0000002 node MONDO_0044964 oral cavity mucoepidermoid carcinoma null http://purl.obolibrary.org/obo/MONDO_0044964 node Orphanet_156156 Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_156156 node NCBITaxon_28901 Salmonella enterica null http://purl.obolibrary.org/obo/NCBITaxon_28901 node EFO_0001646 anatomical modifier null http://www.ebi.ac.uk/efo/EFO_0001646 node Orphanet_370106 Rare disorder with dystonia and other neurologic or systemic manifestation null http://www.orpha.net/ORDO/Orphanet_370106 node South_Korea South Korea null http://dbpedia.org/resource/South_Korea node MONDO_0002420 tic disorder null http://purl.obolibrary.org/obo/MONDO_0002420 node CHEBI_63934 bathocuproine disulfonic acid null http://purl.obolibrary.org/obo/CHEBI_63934 node EFO_0009236 Eosinophilic Myelocyte Count null http://www.ebi.ac.uk/efo/EFO_0009236 node EFO_0002386 UMC11 null http://www.ebi.ac.uk/efo/EFO_0002386 node EFO_0008263 platelet glycoprotein VI measurement null http://www.ebi.ac.uk/efo/EFO_0008263 node UBERON_0015238 pineal complex null http://purl.obolibrary.org/obo/UBERON_0015238 node EFO_0000899 obsolete_ganglion null http://www.ebi.ac.uk/efo/EFO_0000899 node MONDO_0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma null http://purl.obolibrary.org/obo/MONDO_0009633 node EFO_0003914 atherosclerosis Note that NCIT distinguishes between atherosclerotic cardiovascular disease and atherosclerosis - we merge these here http://www.ebi.ac.uk/efo/EFO_0003914 node Orphanet_68383 Rare constitutional medullar aplasia null http://www.orpha.net/ORDO/Orphanet_68383 node EFO_1000790 acalculous cholecystitis null http://www.ebi.ac.uk/efo/EFO_1000790 node MONDO_0001245 microcytic anemia null http://purl.obolibrary.org/obo/MONDO_0001245 node HP_0005879 Congenital finger flexion contractures null http://purl.obolibrary.org/obo/HP_0005879 node MONDO_0003393 thymus gland disease null http://purl.obolibrary.org/obo/MONDO_0003393 node GO_0009124 nucleoside monophosphate biosynthetic process null http://purl.obolibrary.org/obo/GO_0009124 node MONDO_0015032 intraneural perineurioma null http://purl.obolibrary.org/obo/MONDO_0015032 node EFO_0007601 MN1 null http://www.ebi.ac.uk/efo/EFO_0007601 node EFO_0002474 obsolete_superior colliculus null http://www.ebi.ac.uk/efo/EFO_0002474 node EFO_0009324 APOL1 risk genotype carrier status null http://www.ebi.ac.uk/efo/EFO_0009324 node CLO_0013891 GM17210 null http://purl.obolibrary.org/obo/CLO_0013891 node HP_0000331 Short chin The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension). http://purl.obolibrary.org/obo/HP_0000331 node EFO_0000987 obsolete_penis null http://www.ebi.ac.uk/efo/EFO_0000987 node EFO_0009137 renal hypodysplasia/aplasia 3 null http://www.ebi.ac.uk/efo/EFO_0009137 node HP_0000154 Wide mouth The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft. http://purl.obolibrary.org/obo/HP_0000154 node EFO_0003107 obsolete_spinal muscular atrophy with respiratory distress null http://www.ebi.ac.uk/efo/EFO_0003107 node Orphanet_91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency null http://www.orpha.net/ORDO/Orphanet_91135 node EFO_0004074 CB120 null http://www.ebi.ac.uk/efo/EFO_0004074 node EFO_0002280 NCI-H2126 null http://www.ebi.ac.uk/efo/EFO_0002280 node MONDO_0003500 squamous cell bile duct carcinoma null http://purl.obolibrary.org/obo/MONDO_0003500 node NCBITaxon_3218 Physcomitrella patens null http://purl.obolibrary.org/obo/NCBITaxon_3218 node EFO_0002562 embryonic day 11.5 null http://www.ebi.ac.uk/efo/EFO_0002562 node CHEBI_17089 glycoprotein null http://purl.obolibrary.org/obo/CHEBI_17089 node EFO_1001275 Bordetella Infections null http://www.ebi.ac.uk/efo/EFO_1001275 node EFO_0004778 self rated health null http://www.ebi.ac.uk/efo/EFO_0004778 node United_Kingdom United Kingdom null http://dbpedia.org/resource/United_Kingdom node Orphanet_369955 Methylmalonic acidemia with homocystinuria, type cblJ null http://www.orpha.net/ORDO/Orphanet_369955 node GO_0031970 organelle envelope lumen null http://purl.obolibrary.org/obo/GO_0031970 node EFO_0007925 response to paliperidone null http://www.ebi.ac.uk/efo/EFO_0007925 node EFO_0004520 ICAM-1 measurement null http://www.ebi.ac.uk/efo/EFO_0004520 node MONDO_0016586 systemic mastocytosis null http://purl.obolibrary.org/obo/MONDO_0016586 node HP_0010668 Abnormality of the zygomatic bone null http://purl.obolibrary.org/obo/HP_0010668 node GO_0048583 regulation of response to stimulus Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0048583 node CHEBI_101278 diltiazem null http://purl.obolibrary.org/obo/CHEBI_101278 node Orphanet_404443 Tall stature-intellectual disability-facial dysmorphism syndrome null http://www.orpha.net/ORDO/Orphanet_404443 node EFO_1001158 retinopathy of prematurity null http://www.ebi.ac.uk/efo/EFO_1001158 node UBERON_0003729 mouth mucosa null http://purl.obolibrary.org/obo/UBERON_0003729 node CL_0000916 dendritic epidermal T cell In mice, DETC have an invariant T cell receptor. http://purl.obolibrary.org/obo/CL_0000916 node EFO_0005588 small intestine carcinoma null http://www.ebi.ac.uk/efo/EFO_0005588 node EFO_0005708 renal cell adenocarcinoma Editor note: check relationship to RCC http://www.ebi.ac.uk/efo/EFO_0005708 node MONDO_0043007 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome null http://purl.obolibrary.org/obo/MONDO_0043007 node NCBITaxon_470 Acinetobacter baumannii null http://purl.obolibrary.org/obo/NCBITaxon_470 node CL_0000049 common myeloid progenitor This cell type is intended to be compatible with any vertebrate common myeloid progenitor. For mammalian CMP known to be CD34-positive, please use the term 'common myeloid progenitor, CD34-positive' (CL_0001059). http://purl.obolibrary.org/obo/CL_0000049 node EFO_0008940 snRNA-seq null http://www.ebi.ac.uk/efo/EFO_0008940 node EFO_0003047 hepatitis C virus infection null http://www.ebi.ac.uk/efo/EFO_0003047 node EFO_0005370 HCC2998 null http://www.ebi.ac.uk/efo/EFO_0005370 node Orphanet_398079 Prader-Willi-like syndrome due to point mutation null http://www.orpha.net/ORDO/Orphanet_398079 node MONDO_0019821 aneurysm or dilatation of ascending aorta null http://purl.obolibrary.org/obo/MONDO_0019821 node HP_0002135 Basal ganglia calcification null http://purl.obolibrary.org/obo/HP_0002135 node EFO_0005676 Autoimmune Hepatitis null http://www.ebi.ac.uk/efo/EFO_0005676 node EFO_0004749 CCL2 measurement null http://www.ebi.ac.uk/efo/EFO_0004749 node EFO_0010520 peptide measurement null http://www.ebi.ac.uk/efo/EFO_0010520 node MONDO_0001938 vulvar dystrophy null http://purl.obolibrary.org/obo/MONDO_0001938 node EFO_0006573 EPLC-272H null http://www.ebi.ac.uk/efo/EFO_0006573 node Orphanet_98897 Oculopharyngodistal myopathy null http://www.orpha.net/ORDO/Orphanet_98897 node MONDO_0060663 congenital heart defects, multiple types, 5 null http://purl.obolibrary.org/obo/MONDO_0060663 node CLO_0014347 GM17230 null http://purl.obolibrary.org/obo/CLO_0014347 node EFO_0009790 asparaginase activity measurement null http://www.ebi.ac.uk/efo/EFO_0009790 node MONDO_0002567 tracheal disease null http://purl.obolibrary.org/obo/MONDO_0002567 node EFO_0010403 triacylglycerol 48:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010403 node Orphanet_35099 Isolated brachycephaly null http://www.orpha.net/ORDO/Orphanet_35099 node NCBITaxon_5346 Coprinopsis cinerea null http://purl.obolibrary.org/obo/NCBITaxon_5346 node CLO_0016510 GM17817 null http://purl.obolibrary.org/obo/CLO_0016510 node MONDO_0024361 circadian rhythm sleep disorder null http://purl.obolibrary.org/obo/MONDO_0024361 node HP_0000736 Short attention span null http://purl.obolibrary.org/obo/HP_0000736 node MONDO_0018356 secondary neonatal autoimmune disease null http://purl.obolibrary.org/obo/MONDO_0018356 node GO_0060004 reflex null http://purl.obolibrary.org/obo/GO_0060004 node Orphanet_401923 9q31.1q31.3 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_401923 node Orphanet_2753 Orofaciodigital syndrome type 4 null http://www.orpha.net/ORDO/Orphanet_2753 node EFO_0007748 EH null http://www.ebi.ac.uk/efo/EFO_0007748 node GO_0009856 pollination null http://purl.obolibrary.org/obo/GO_0009856 node EFO_0008537 anti-topoisomerase-I-antibody-positive systemic scleroderma null http://www.ebi.ac.uk/efo/EFO_0008537 node EFO_0001923 obsolete_floor of mouth null http://www.ebi.ac.uk/efo/EFO_0001923 node NCBITaxon_3885 Phaseolus vulgaris null http://purl.obolibrary.org/obo/NCBITaxon_3885 node EFO_0010010 CEL-seq2 null http://www.ebi.ac.uk/efo/EFO_0010010 node EFO_0007058 last follow up null http://www.ebi.ac.uk/efo/EFO_0007058 node FBbt_00017027 gastric caecum primordium null http://purl.obolibrary.org/obo/FBbt_00017027 node MONDO_0045014 tetrahydrobiopterin metabolic process disease null http://purl.obolibrary.org/obo/MONDO_0045014 node EFO_0001736 funder null http://www.ebi.ac.uk/efo/EFO_0001736 node NCBITaxon_426114 Thiomonas sp. 3As null http://purl.obolibrary.org/obo/NCBITaxon_426114 node MONDO_0032906 spastic paraplegia 82, autosomal recessive null http://purl.obolibrary.org/obo/MONDO_0032906 node MONDO_0002876 cervical adenosarcoma null http://purl.obolibrary.org/obo/MONDO_0002876 node NCBITaxon_57483 European bat lyssavirus 2 null http://purl.obolibrary.org/obo/NCBITaxon_57483 node EFO_0007836 coenzyme Q10 measurement null http://www.ebi.ac.uk/efo/EFO_0007836 node EFO_0006909 HPL1D null http://www.ebi.ac.uk/efo/EFO_0006909 node EFO_0008625 vitreous prolapse null http://www.ebi.ac.uk/efo/EFO_0008625 node Orphanet_96136 Non-distal monosomy 7p null http://www.orpha.net/ORDO/Orphanet_96136 node EFO_0007146 anisakiasis null http://www.ebi.ac.uk/efo/EFO_0007146 node MONDO_0013187 factor XIII, A subunit, deficiency of null http://purl.obolibrary.org/obo/MONDO_0013187 node PO_0000003 whole plant Examples include plant embryo (PO:0009009), megagametophyte (PO:0025279) and microgametophyte (PO:0025280). http://purl.obolibrary.org/obo/PO_0000003 node Orphanet_263 Limb-girdle muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_263 node Orphanet_79191 Disorder of purine metabolism null http://www.orpha.net/ORDO/Orphanet_79191 node Orphanet_262038 Partial deletion of the long arm of chromosome 5 null http://www.orpha.net/ORDO/Orphanet_262038 node MONDO_0001322 pericardium cancer null http://purl.obolibrary.org/obo/MONDO_0001322 node EFO_0003629 obsolete_thecal cell layer null http://www.ebi.ac.uk/efo/EFO_0003629 node MONDO_0016680 high grade astrocytic tumor null http://purl.obolibrary.org/obo/MONDO_0016680 node FBbt_00005506 rectum primordium null http://purl.obolibrary.org/obo/FBbt_00005506 node Orphanet_313884 12p12.1 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_313884 node EFO_1000828 B- and T-cell mixed leukemia null http://www.ebi.ac.uk/efo/EFO_1000828 node MONDO_0001410 postmenopausal atrophic vaginitis null http://purl.obolibrary.org/obo/MONDO_0001410 node EFO_0010925 protein S100-A12 measurement null http://www.ebi.ac.uk/efo/EFO_0010925 node EFO_0009705 small intestine enteropathy null http://www.ebi.ac.uk/efo/EFO_0009705 node CHEBI_36458 homocitrate (2-) null http://purl.obolibrary.org/obo/CHEBI_36458 node EFO_0003717 obsolete_liver (Mus musculus) null http://www.ebi.ac.uk/efo/EFO_0003717 node Orphanet_3061 X-linked intellectual disability, Raynaud type null http://www.orpha.net/ORDO/Orphanet_3061 node Orphanet_329 Congenital factor XI deficiency null http://www.orpha.net/ORDO/Orphanet_329 node Orphanet_99002 Reticular dystrophy of the retinal pigment epithelium null http://www.orpha.net/ORDO/Orphanet_99002 node EFO_1000027 ependymal neoplasm null http://www.ebi.ac.uk/efo/EFO_1000027 node HP_0100807 Long fingers null http://purl.obolibrary.org/obo/HP_0100807 node EFO_1000508 Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions null http://www.ebi.ac.uk/efo/EFO_1000508 node HP_0012590 Abnormal urine output null http://purl.obolibrary.org/obo/HP_0012590 node EFO_0004457 carcinogen role null http://www.ebi.ac.uk/efo/EFO_0004457 node Orphanet_2438 Hand-foot-genital syndrome null http://www.orpha.net/ORDO/Orphanet_2438 node CLO_0014947 GM17111 null http://purl.obolibrary.org/obo/CLO_0014947 node EFO_1000916 endemic goiter null http://www.ebi.ac.uk/efo/EFO_1000916 node EFO_1001833 Pubic Symphysis Diastasis null http://www.ebi.ac.uk/efo/EFO_1001833 node MONDO_0020293 ascending aorta anomaly null http://purl.obolibrary.org/obo/MONDO_0020293 node Orphanet_53 Albers-Schönberg osteopetrosis null http://www.orpha.net/ORDO/Orphanet_53 node EFO_0006762 SUM229PE null http://www.ebi.ac.uk/efo/EFO_0006762 node EFO_1000729 loiasis null http://www.ebi.ac.uk/efo/EFO_1000729 node CHEBI_53444 potassium dichromate null http://purl.obolibrary.org/obo/CHEBI_53444 node Orphanet_85196 Nodulosis-arthropathy-osteolysis syndrome null http://www.orpha.net/ORDO/Orphanet_85196 node Orphanet_363424 Hypotonia-cerebral atrophy-hyperglycinemia syndrome null http://www.orpha.net/ORDO/Orphanet_363424 node MONDO_0013421 type II complement component 8 deficiency null http://purl.obolibrary.org/obo/MONDO_0013421 node Orphanet_178345 Aromatase excess syndrome null http://www.orpha.net/ORDO/Orphanet_178345 node EFO_0010826 cystine urolithiasis null http://www.ebi.ac.uk/efo/EFO_0010826 node CLO_0031276 GM14467 null http://purl.obolibrary.org/obo/CLO_0031276 node EFO_1000115 Benign Ovarian Mucinous Tumor null http://www.ebi.ac.uk/efo/EFO_1000115 node EFO_0003498 obsolete_neural rod null http://www.ebi.ac.uk/efo/EFO_0003498 node OBI_0100026 organism null http://purl.obolibrary.org/obo/OBI_0100026 node MONDO_0021355 neoplasm of esophagus null http://purl.obolibrary.org/obo/MONDO_0021355 node CHEBI_28824 phytosterol null http://purl.obolibrary.org/obo/CHEBI_28824 node Orphanet_399764 Male infertility due to gonadal dysgenesis or sperm disorder null http://www.orpha.net/ORDO/Orphanet_399764 node EFO_1001440 Tuberculosis, Avian null http://www.ebi.ac.uk/efo/EFO_1001440 node Orphanet_638 Neurofibromatosis-Noonan syndrome null http://www.orpha.net/ORDO/Orphanet_638 node EFO_0010490 glycochenodeoxycholate measurement null http://www.ebi.ac.uk/efo/EFO_0010490 node NCBITaxon_273075 Thermoplasma acidophilum DSM 1728 null http://purl.obolibrary.org/obo/NCBITaxon_273075 node MONDO_0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri null http://purl.obolibrary.org/obo/MONDO_0016277 node GO_0009141 nucleoside triphosphate metabolic process null http://purl.obolibrary.org/obo/GO_0009141 node OBI_0400107 computer null http://purl.obolibrary.org/obo/OBI_0400107 node Orphanet_99106 Atrial septal defect, ostium primum type null http://www.orpha.net/ORDO/Orphanet_99106 node EFO_0000373 congestive heart failure null http://www.ebi.ac.uk/efo/EFO_0000373 node EFO_1001054 myofascial pain syndrome null http://www.ebi.ac.uk/efo/EFO_1001054 node EFO_0004076 CB189 null http://www.ebi.ac.uk/efo/EFO_0004076 node MONDO_0000389 atelosteogenesis null http://purl.obolibrary.org/obo/MONDO_0000389 node Orphanet_139009 Developmental anomaly of metabolic origin null http://www.orpha.net/ORDO/Orphanet_139009 node EFO_0000186 invasive breast ductal carcinoma null http://www.ebi.ac.uk/efo/EFO_0000186 node Orphanet_166011 Multiple epiphyseal dysplasia, Beighton type null http://www.orpha.net/ORDO/Orphanet_166011 node EFO_0006932 putamen volume null http://www.ebi.ac.uk/efo/EFO_0006932 node NCBITaxon_420247 Methanobrevibacter smithii ATCC 35061 null http://purl.obolibrary.org/obo/NCBITaxon_420247 node MONDO_0017292 well-differentiated fetal adenocarcinoma of the lung null http://purl.obolibrary.org/obo/MONDO_0017292 node MONDO_0017207 primary organ-specific lymphoma null http://purl.obolibrary.org/obo/MONDO_0017207 node UBERON_0002255 vomeronasal organ null http://purl.obolibrary.org/obo/UBERON_0002255 node UBERON_0000988 pons null http://purl.obolibrary.org/obo/UBERON_0000988 node MONDO_0021079 childhood neoplasm null http://purl.obolibrary.org/obo/MONDO_0021079 node MONDO_0016178 peripheral neuropathy associated with monoclonal gammopathy null http://purl.obolibrary.org/obo/MONDO_0016178 node MONDO_0000477 focal dystonia null http://purl.obolibrary.org/obo/MONDO_0000477 node CHEBI_28946 theobromine null http://purl.obolibrary.org/obo/CHEBI_28946 node Orphanet_262110 Partial deletion of the long arm of chromosome 14 null http://www.orpha.net/ORDO/Orphanet_262110 node EFO_0004001 closed colony random bred strain null http://www.ebi.ac.uk/efo/EFO_0004001 node MONDO_0000698 gamma-amino butyric acid metabolism disorder null http://purl.obolibrary.org/obo/MONDO_0000698 node Orphanet_155884 Coloboma of superior eyelid Editor note: TODO axioms http://www.orpha.net/ORDO/Orphanet_155884 node CHEBI_30854 indole-3-acetate null http://purl.obolibrary.org/obo/CHEBI_30854 node EFO_0008556 Methicillin-Resistant Staphylococcus Aureus Pneumonia null http://www.ebi.ac.uk/efo/EFO_0008556 node Orphanet_262812 Partial trisomy/tetrasomy of the short arm of chromosome 18 null http://www.orpha.net/ORDO/Orphanet_262812 node MONDO_0002258 pharyngitis null http://purl.obolibrary.org/obo/MONDO_0002258 node EFO_0008379 P wave terminal force measurement null http://www.ebi.ac.uk/efo/EFO_0008379 node Orphanet_35878 Hyperinsulinism-hyperammonemia syndrome null http://www.orpha.net/ORDO/Orphanet_35878 node HP_0200134 Epileptic encephalopathy Seizures alone without any underlying neurologic or medical illness can be the sole cause of encephalopathy. Patients with seizures as a cause or consequence of encephalopathy present with a wide variety of neurologic symptoms from mild reduction or alteration of consciousness to coma. Findings on neurologic exam are often nonfocal, nonspecific, and not predictive of the presence of seizures. Patients may or may not have subtle motor findings accompanying the presentation of encephalopathy. Signs range from very focal findings, such as nystagmus, eye flutter, blinking, and eye deviation to more widespread signs, such as myoclonus, tremulousness, and autonomic instability. http://purl.obolibrary.org/obo/HP_0200134 node CHEBI_8093 phenylephrine null http://purl.obolibrary.org/obo/CHEBI_8093 node EFO_0010090 sweet beverage consumption measurement null http://www.ebi.ac.uk/efo/EFO_0010090 node CL_0000547 proerythroblast null http://purl.obolibrary.org/obo/CL_0000547 node EFO_1000694 erythema multiforme null http://www.ebi.ac.uk/efo/EFO_1000694 node EFO_0008644 3P-Seq null http://www.ebi.ac.uk/efo/EFO_0008644 node HP_0001877 Abnormal erythrocyte morphology null http://purl.obolibrary.org/obo/HP_0001877 node MONDO_0013680 cognitive impairment with or without cerebellar ataxia null http://purl.obolibrary.org/obo/MONDO_0013680 node NCBITaxon_1902 Streptomyces coelicolor null http://purl.obolibrary.org/obo/NCBITaxon_1902 node MONDO_0020698 inborn error of biotin metabolism null http://purl.obolibrary.org/obo/MONDO_0020698 node CLO_0013795 GM17193 null http://purl.obolibrary.org/obo/CLO_0013795 node EFO_0008702 CrY2H-seq null http://www.ebi.ac.uk/efo/EFO_0008702 node EFO_1000782 altitude sickness null http://www.ebi.ac.uk/efo/EFO_1000782 node EFO_0008068 carbonic anhydrase 6 measurement null http://www.ebi.ac.uk/efo/EFO_0008068 node Orphanet_38874 Dihydropyrimidinuria null http://www.orpha.net/ORDO/Orphanet_38874 node EFO_1000595 Thyroid Gland Undifferentiated (Anaplastic) Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000595 node Orphanet_254746 Pyruvate metabolism disorder null http://www.orpha.net/ORDO/Orphanet_254746 node EFO_0007527 tropical spastic paraparesis null http://www.ebi.ac.uk/efo/EFO_0007527 node EFO_0001211 MDAMB361 null http://www.ebi.ac.uk/efo/EFO_0001211 node NCBITaxon_55313 Elodea nuttallii null http://purl.obolibrary.org/obo/NCBITaxon_55313 node Orphanet_1229 Congenital intrauterine infection-like syndrome Editor note: consider splitting out type 1 http://www.orpha.net/ORDO/Orphanet_1229 node CHEBI_132733 triacylglycerol 58:11 null http://purl.obolibrary.org/obo/CHEBI_132733 node EFO_1000840 bladder neck obstruction null http://www.ebi.ac.uk/efo/EFO_1000840 node MONDO_0037736 infratentorial neoplasm null http://purl.obolibrary.org/obo/MONDO_0037736 node EFO_0002466 obsolete_middle temporal gyrus null http://www.ebi.ac.uk/efo/EFO_0002466 node UBERON_0007281 presumptive midbrain hindbrain boundary null http://purl.obolibrary.org/obo/UBERON_0007281 node EFO_0003381 obsolete_salivary gland body primordium null http://www.ebi.ac.uk/efo/EFO_0003381 node EFO_0002279 NCI-H2122 null http://www.ebi.ac.uk/efo/EFO_0002279 node EFO_0002864 T24 null http://www.ebi.ac.uk/efo/EFO_0002864 node EFO_0007311 HIV enteropathy null http://www.ebi.ac.uk/efo/EFO_0007311 node MONDO_0003443 papillary urothelial neoplasm null http://purl.obolibrary.org/obo/MONDO_0003443 node MONDO_0002516 digestive system cancer null http://purl.obolibrary.org/obo/MONDO_0002516 node Orphanet_254834 Mitochondrial protein import disorder null http://www.orpha.net/ORDO/Orphanet_254834 node HP_0000544 External ophthalmoplegia null http://purl.obolibrary.org/obo/HP_0000544 node EFO_0009481 paranasal sinus disease null http://www.ebi.ac.uk/efo/EFO_0009481 node CHEBI_2948 azathioprine null http://purl.obolibrary.org/obo/CHEBI_2948 node Orphanet_52503 X-linked creatine transporter deficiency null http://www.orpha.net/ORDO/Orphanet_52503 node EFO_0009858 brooding stress response null http://www.ebi.ac.uk/efo/EFO_0009858 node CL_0000881 perivascular macrophage Markers: Human/monkey, mice: CD163. Human: CD14+CD16+CD163+. http://purl.obolibrary.org/obo/CL_0000881 node NCBITaxon_3562 Spinacia oleracea null http://purl.obolibrary.org/obo/NCBITaxon_3562 node EFO_0002367 SW48 null http://www.ebi.ac.uk/efo/EFO_0002367 node HP_0005033 Distal ulnar hypoplasia null http://purl.obolibrary.org/obo/HP_0005033 node Orphanet_68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect null http://www.orpha.net/ORDO/Orphanet_68334 node Orphanet_280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness null http://www.orpha.net/ORDO/Orphanet_280406 node MONDO_0003531 papillary eccrine carcinoma null http://purl.obolibrary.org/obo/MONDO_0003531 node MONDO_0002604 pericytic neoplasm null http://purl.obolibrary.org/obo/MONDO_0002604 node Orphanet_294942 Postaxial polydactyly of fingers Editor note: check http://www.orpha.net/ORDO/Orphanet_294942 node EFO_0009640 family history of cancer null http://www.ebi.ac.uk/efo/EFO_0009640 node CHEBI_34631 chlorpyrifos null http://purl.obolibrary.org/obo/CHEBI_34631 node HP_0000632 Lacrimation abnormality null http://purl.obolibrary.org/obo/HP_0000632 node CHEBI_2555 aldicarb null http://purl.obolibrary.org/obo/CHEBI_2555 node UBERON_0003849 mesencephalic neural crest null http://purl.obolibrary.org/obo/UBERON_0003849 node Orphanet_2515 Microcephaly - cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_2515 node EFO_0002588 Theiler stage 28 null http://www.ebi.ac.uk/efo/EFO_0002588 node Orphanet_325109 Syndrome with 46,XX disorder of sex development null http://www.orpha.net/ORDO/Orphanet_325109 node Orphanet_93304 Autosomal dominant brachyolmia null http://www.orpha.net/ORDO/Orphanet_93304 node Orphanet_73224 Tubular renal disease - cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_73224 node EFO_0004148 obsolete_Charcot-Marie-Tooth disease null http://www.ebi.ac.uk/efo/EFO_0004148 node EFO_0000843 obsolete_ascending colon null http://www.ebi.ac.uk/efo/EFO_0000843 node CL_0000782 myeloid dendritic cell These cells are CD1a-negative, CD1b-positive, CD11a-positive, CD11c-positive, CD13-positive, CD14-negative, CD20-negative, CD21-negative, CD33-positive, CD40-negative, CD50-positive, CD54-positive, CD58-positive, CD68-negative, CD80-negative, CD83-negative, CD85j-positive, CD86-positive, CD89-negative, CD95-positive, CD120a-negative, CD120b-positive, CD123-negative, CD178-negative, CD206-negative, CD207-negative, CD209-negative, and TNF-alpha-negative. Upon TLR stimulation, they are capable of producing high levels of TNF-alpha, IL-6, CXCL8 (IL-8). http://purl.obolibrary.org/obo/CL_0000782 node EFO_0003780 Behcet's syndrome null http://www.ebi.ac.uk/efo/EFO_0003780 node HP_0000720 Mood swings null http://purl.obolibrary.org/obo/HP_0000720 node Orphanet_902 Werner syndrome null http://www.orpha.net/ORDO/Orphanet_902 node EFO_0005362 CCD-16Lu null http://www.ebi.ac.uk/efo/EFO_0005362 node Orphanet_715 Glycogen storage disease due to muscle phosphorylase kinase deficiency null http://www.orpha.net/ORDO/Orphanet_715 node EFO_0001034 obsolete_male inflorescence null http://www.ebi.ac.uk/efo/EFO_0001034 node EFO_0004236 focal segmental glomerulosclerosis null http://www.ebi.ac.uk/efo/EFO_0004236 node Orphanet_168577 Hereditary cryohydrocytosis with reduced stomatin null http://www.orpha.net/ORDO/Orphanet_168577 node EFO_0005175 Bay-0 null http://www.ebi.ac.uk/efo/EFO_0005175 node EFO_0000450 embryonic cuprophilic cell null http://www.ebi.ac.uk/efo/EFO_0000450 node EFO_0009078 stag1-related disorder null http://www.ebi.ac.uk/efo/EFO_0009078 node EFO_0000931 obsolete_urethra null http://www.ebi.ac.uk/efo/EFO_0000931 node EFO_1001131 pseudobulbar palsy null http://www.ebi.ac.uk/efo/EFO_1001131 node EFO_0005561 histiocytoma null http://www.ebi.ac.uk/efo/EFO_0005561 node EFO_0004634 coagulation factor measurement null http://www.ebi.ac.uk/efo/EFO_0004634 node EFO_1001459 diabetic foot null http://www.ebi.ac.uk/efo/EFO_1001459 node Orphanet_183651 Rare constitutional anemia null http://www.orpha.net/ORDO/Orphanet_183651 node EFO_0004318 smoking behavior null http://www.ebi.ac.uk/efo/EFO_0004318 node Orphanet_31043 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement null http://www.orpha.net/ORDO/Orphanet_31043 node EFO_0000428 dose null http://www.ebi.ac.uk/efo/EFO_0000428 node EFO_0001122 GM11881 null http://www.ebi.ac.uk/efo/EFO_0001122 node EFO_1001109 pituitary dwarfism null http://www.ebi.ac.uk/efo/EFO_1001109 node Orphanet_1896 EEC syndrome null http://www.orpha.net/ORDO/Orphanet_1896 node EFO_0005263 TOV-112D null http://www.ebi.ac.uk/efo/EFO_0005263 node CL_0002194 monopoietic cell null http://purl.obolibrary.org/obo/CL_0002194 node EFO_0009166 response to ivacaftor - efficacy null http://www.ebi.ac.uk/efo/EFO_0009166 node UBERON_0003121 pharyngeal arch artery 4 proximal right subclavian http://purl.obolibrary.org/obo/UBERON_0003121 node EFO_0005086 Illumina HiSeq 2000 standard manufacturer's protocol null http://www.ebi.ac.uk/efo/EFO_0005086 node MONDO_0000962 spindle cell lipoma null http://purl.obolibrary.org/obo/MONDO_0000962 node Orphanet_100973 FRAXE intellectual disability null http://www.orpha.net/ORDO/Orphanet_100973 node NCBITaxon_9305 Sarcophilus harrisii null http://purl.obolibrary.org/obo/NCBITaxon_9305 node EFO_0004406 Theiler stage 15 null http://www.ebi.ac.uk/efo/EFO_0004406 node CHEBI_5757 homostachydrine null http://purl.obolibrary.org/obo/CHEBI_5757 node CL_0000998 CD8_alpha-negative CD11b-negative dendritic cell These markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000011)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0000998 node MONDO_0000649 sensory system cancer null http://purl.obolibrary.org/obo/MONDO_0000649 node EFO_0000516 glaucoma null http://www.ebi.ac.uk/efo/EFO_0000516 node Orphanet_247378 Autosomal recessive secondary polycythemia not associated with VHL gene null http://www.orpha.net/ORDO/Orphanet_247378 node Orphanet_1522 Craniometaphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_1522 node EFO_0006711 OCI-LY7 null http://www.ebi.ac.uk/efo/EFO_0006711 node EFO_0006524 L-arginine measurement null http://www.ebi.ac.uk/efo/EFO_0006524 node GO_0097366 response to bronchodilator null http://purl.obolibrary.org/obo/GO_0097366 node NCBITaxon_70448 Ostreococcus tauri null http://purl.obolibrary.org/obo/NCBITaxon_70448 node Orphanet_79095 Congenital bile acid synthesis defect type 4 null http://www.orpha.net/ORDO/Orphanet_79095 node EFO_0010223 diglyceride measurement null http://www.ebi.ac.uk/efo/EFO_0010223 node EFO_0000047 CS57631 null http://www.ebi.ac.uk/efo/EFO_0000047 node CHEBI_8707 quetiapine null http://purl.obolibrary.org/obo/CHEBI_8707 node EFO_0007779 response to pazopanib null http://www.ebi.ac.uk/efo/EFO_0007779 node EFO_0010704 portal endothelial cell Made as a placeholder for AE anatomagrams, term should be requested in CL. http://www.ebi.ac.uk/efo/EFO_0010704 node Orphanet_2597 Mitochondrial myopathy - lactic acidosis - deafness null http://www.orpha.net/ORDO/Orphanet_2597 node EFO_0010517 oxalate measurement null http://www.ebi.ac.uk/efo/EFO_0010517 node MONDO_0024662 colorectal tubulovillous adenoma null http://purl.obolibrary.org/obo/MONDO_0024662 node Orphanet_98455 Alpha granule disease null http://www.orpha.net/ORDO/Orphanet_98455 node UBERON_0002116 ileum null http://purl.obolibrary.org/obo/UBERON_0002116 node EFO_0007561 haploid deletion library null http://www.ebi.ac.uk/efo/EFO_0007561 node EFO_0006612 KMS-12-BM null http://www.ebi.ac.uk/efo/EFO_0006612 node Orphanet_289891 Hypermethioninemia due to glycine N-methyltransferase deficiency null http://www.orpha.net/ORDO/Orphanet_289891 node CL_0002563 intestinal epithelial cell null http://purl.obolibrary.org/obo/CL_0002563 node EFO_1001506 primary angle closure glaucoma null http://www.ebi.ac.uk/efo/EFO_1001506 node Orphanet_280576 Nestor-Guillermo progeria syndrome null http://www.orpha.net/ORDO/Orphanet_280576 node EFO_0010311 lateral occipital cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010311 node EFO_0000135 CS57827 null http://www.ebi.ac.uk/efo/EFO_0000135 node MONDO_0017015 primary interstitial lung disease specific to childhood null http://purl.obolibrary.org/obo/MONDO_0017015 node Orphanet_1037 Arthrogryposis multiplex congenita null http://www.orpha.net/ORDO/Orphanet_1037 node EFO_0010124 response to atorvastatin null http://www.ebi.ac.uk/efo/EFO_0010124 node EFO_0005246 hypersomnia null http://www.ebi.ac.uk/efo/EFO_0005246 node MONDO_0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP null http://purl.obolibrary.org/obo/MONDO_0032594 node EFO_0010605 brain stem volume measurement null http://www.ebi.ac.uk/efo/EFO_0010605 node NCBITaxon_190486 Xanthomonas axonopodis pv. citri str. 306 null http://purl.obolibrary.org/obo/NCBITaxon_190486 node EFO_0001291 gastrula 50%-epiboly null http://www.ebi.ac.uk/efo/EFO_0001291 node CLO_0016507 GM17813 null http://purl.obolibrary.org/obo/CLO_0016507 node Orphanet_797 Sarcoidosis Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; same with neurogenic sarcoidosis. TODO - check type of hypersensitivity disease http://www.orpha.net/ORDO/Orphanet_797 node UBERON_0002204 musculoskeletal system null http://purl.obolibrary.org/obo/UBERON_0002204 node Orphanet_98543 Metabolic disease with dementia null http://www.orpha.net/ORDO/Orphanet_98543 node MONDO_0000426 autosomal dominant disease null http://purl.obolibrary.org/obo/MONDO_0000426 node EFO_0007462 REM sleep behavior disorder null http://www.ebi.ac.uk/efo/EFO_0007462 node CL_0002474 lymphoid MHC-II-negative classical monocyte null http://purl.obolibrary.org/obo/CL_0002474 node CHEBI_82965 gamma-Glu-Met null http://purl.obolibrary.org/obo/CHEBI_82965 node GO_0044058 regulation of digestive system process null http://purl.obolibrary.org/obo/GO_0044058 node Orphanet_209951 Autosomal recessive spastic paraplegia type 18 null http://www.orpha.net/ORDO/Orphanet_209951 node EFO_0007391 Nematoda infectious disease null http://www.ebi.ac.uk/efo/EFO_0007391 node MONDO_0001751 cholestasis null http://purl.obolibrary.org/obo/MONDO_0001751 node HP_0003076 Glycosuria Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. http://purl.obolibrary.org/obo/HP_0003076 node MONDO_0001574 capillary disease null http://purl.obolibrary.org/obo/MONDO_0001574 node Orphanet_280195 Septopreoptic holoprosencephaly null http://www.orpha.net/ORDO/Orphanet_280195 node Orphanet_214 Cystinuria null http://www.orpha.net/ORDO/Orphanet_214 node EFO_0008328 chronotype measurement null http://www.ebi.ac.uk/efo/EFO_0008328 node Orphanet_93274 Thanatophoric dysplasia type 2 null http://www.orpha.net/ORDO/Orphanet_93274 node HP_0001263 Global developmental delay Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. http://purl.obolibrary.org/obo/HP_0001263 node EFO_0006347 pulmonary artery enlargement null http://www.ebi.ac.uk/efo/EFO_0006347 node CHEBI_50514 vasoconstrictor agent null http://purl.obolibrary.org/obo/CHEBI_50514 node MONDO_0016631 hemorrhagic disorder due to an acquired platelet anomaly null http://purl.obolibrary.org/obo/MONDO_0016631 node EFO_0002058 obsolete_HL60 null http://www.ebi.ac.uk/efo/EFO_0002058 node EFO_1001383 Opsoclonus-Myoclonus Syndrome null http://www.ebi.ac.uk/efo/EFO_1001383 node EFO_1001864 uterine prolapse null http://www.ebi.ac.uk/efo/EFO_1001864 node Orphanet_302 Epidermodysplasia verruciformis null http://www.orpha.net/ORDO/Orphanet_302 node EFO_1000279 obsolete_gastric tubular adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000279 node MONDO_0013131 polycystic kidney disease 2 null http://purl.obolibrary.org/obo/MONDO_0013131 node EFO_0000996 obsolete_vascular tissue null http://www.ebi.ac.uk/efo/EFO_0000996 node EFO_0003383 obsolete_midline primordium null http://www.ebi.ac.uk/efo/EFO_0003383 node EFO_0001988 obsolete_lateral geniculate nucleus null http://www.ebi.ac.uk/efo/EFO_0001988 node EFO_0009741 experimental scientist null http://www.ebi.ac.uk/efo/EFO_0009741 node EFO_0006435 HCC2911 null http://www.ebi.ac.uk/efo/EFO_0006435 node NCBITaxon_13146 Melopsittacus undulatus null http://purl.obolibrary.org/obo/NCBITaxon_13146 node MONDO_0044917 T-lymphoblastic lymphoma null http://purl.obolibrary.org/obo/MONDO_0044917 node CHEBI_38877 intravenous anaesthetic null http://purl.obolibrary.org/obo/CHEBI_38877 node Orphanet_166487 Cerebral diseases of vascular origin with epilepsy null http://www.orpha.net/ORDO/Orphanet_166487 node GO_0034654 nucleobase-containing compound biosynthetic process null http://purl.obolibrary.org/obo/GO_0034654 node EFO_1001471 Merkel cell skin cancer null http://www.ebi.ac.uk/efo/EFO_1001471 node Orphanet_1692 Mosaic trisomy 1 null http://www.orpha.net/ORDO/Orphanet_1692 node EFO_1001952 endometrial adenosquamous carcinoma null http://www.ebi.ac.uk/efo/EFO_1001952 node NCBITaxon_3659 Cucumis sativus null http://purl.obolibrary.org/obo/NCBITaxon_3659 node EFO_1000367 Mediastinal Neuroblastoma null http://www.ebi.ac.uk/efo/EFO_1000367 node EFO_0003471 obsolete_presumptive ventral fin fold null http://www.ebi.ac.uk/efo/EFO_0003471 node HP_0006536 Pulmonary obstruction null http://purl.obolibrary.org/obo/HP_0006536 node Orphanet_289846 Glutathione synthetase deficiency with 5-oxoprolinuria null http://www.orpha.net/ORDO/Orphanet_289846 node Orphanet_181 X-linked hypohidrotic ectodermal dysplasia null http://www.orpha.net/ORDO/Orphanet_181 node Orphanet_371433 Genetic periodic paralysis null http://www.orpha.net/ORDO/Orphanet_371433 node Orphanet_276261 Xeroderma pigmentosum complementation group E null http://www.orpha.net/ORDO/Orphanet_276261 node MONDO_0002606 epithelioid type angiomyolipoma null http://purl.obolibrary.org/obo/MONDO_0002606 node EFO_0002228 MC116 null http://www.ebi.ac.uk/efo/EFO_0002228 node EFO_0009642 follow-up null http://www.ebi.ac.uk/efo/EFO_0009642 node EFO_0002709 BxPC-3 null http://www.ebi.ac.uk/efo/EFO_0002709 node CHEBI_53784 antispasmodic null http://purl.obolibrary.org/obo/CHEBI_53784 node Orphanet_2065 Galloway-Mowat syndrome null http://www.orpha.net/ORDO/Orphanet_2065 node EFO_0010791 neurotrophin-3 measurement null http://www.ebi.ac.uk/efo/EFO_0010791 node NCBITaxon_13642 Polysphondylium pallidum null http://purl.obolibrary.org/obo/NCBITaxon_13642 node UBERON_0016405 pulmonary capillary null http://purl.obolibrary.org/obo/UBERON_0016405 node NCBITaxon_3747 Fragaria x ananassa null http://purl.obolibrary.org/obo/NCBITaxon_3747 node EFO_0009430 neuralgia null http://www.ebi.ac.uk/efo/EFO_0009430 node HP_0002719 Recurrent infections null http://purl.obolibrary.org/obo/HP_0002719 node Orphanet_1973 Faciocardiorenal syndrome null http://www.orpha.net/ORDO/Orphanet_1973 node CL_0000908 CD8-positive, alpha-beta cytokine secreting effector T cell null http://purl.obolibrary.org/obo/CL_0000908 node EFO_1001780 Chylothorax null http://www.ebi.ac.uk/efo/EFO_1001780 node Orphanet_371040 Primary qualitative or quantitative defects of alpha-dystroglycan null http://www.orpha.net/ORDO/Orphanet_371040 node NCBITaxon_1292002 Echinochloa glabrescens null http://purl.obolibrary.org/obo/NCBITaxon_1292002 node EFO_0002316 RDES null http://www.ebi.ac.uk/efo/EFO_0002316 node Orphanet_2153 Hirschsprung disease - nail hypoplasia - dysmorphism null http://www.orpha.net/ORDO/Orphanet_2153 node EFO_0003056 M14 null http://www.ebi.ac.uk/efo/EFO_0003056 node EFO_0010674 cardioverter defibrillator null http://www.ebi.ac.uk/efo/EFO_0010674 node EFO_0003641 obsolete_posterior lateral line primordium null http://www.ebi.ac.uk/efo/EFO_0003641 node CHEBI_2504 aflatoxin B1 null http://purl.obolibrary.org/obo/CHEBI_2504 node EFO_0005364 CCD-25Lu null http://www.ebi.ac.uk/efo/EFO_0005364 node MONDO_0018906 follicular lymphoma null http://purl.obolibrary.org/obo/MONDO_0018906 node EFO_1000432 Ovarian Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000432 node EFO_0009331 erosive tooth wear measurement null http://www.ebi.ac.uk/efo/EFO_0009331 node MONDO_0018729 genetic vascular tumor null http://purl.obolibrary.org/obo/MONDO_0018729 node EFO_0005177 Co-1 null http://www.ebi.ac.uk/efo/EFO_0005177 node CLO_0016594 GM17766 null http://purl.obolibrary.org/obo/CLO_0016594 node Orphanet_125 Bloom syndrome null http://www.orpha.net/ORDO/Orphanet_125 node UBERON_0005493 hyoid muscle null http://purl.obolibrary.org/obo/UBERON_0005493 node Orphanet_2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome null http://www.orpha.net/ORDO/Orphanet_2241 node Orphanet_2036 Scalp-ear-nipple syndrome null http://www.orpha.net/ORDO/Orphanet_2036 node HP_0009800 Maternal diabetes null http://purl.obolibrary.org/obo/HP_0009800 node EFO_0006929 IgG index null http://www.ebi.ac.uk/efo/EFO_0006929 node EFO_0000605 obsolete_C57BL/6 (duplicate) null http://www.ebi.ac.uk/efo/EFO_0000605 node MONDO_0018513 squamous cell carcinoma of colon null http://purl.obolibrary.org/obo/MONDO_0018513 node CLO_0013080 GM17288 null http://purl.obolibrary.org/obo/CLO_0013080 node EFO_1000520 Sarcomatoid Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000520 node EFO_0005265 MOLT-3 null http://www.ebi.ac.uk/efo/EFO_0005265 node CLO_0016682 GM17795 null http://purl.obolibrary.org/obo/CLO_0016682 node EFO_0005088 testicular carcinoma null http://www.ebi.ac.uk/efo/EFO_0005088 node EFO_0005102 obsolete_filament null http://www.ebi.ac.uk/efo/EFO_0005102 node MONDO_0100061 PRPS1 deficiency disorder Individuals, both male and female, have been reported with familial missense variants in the PRPS1 gene. These patients have been described in the literature as having a range of phenotypes characterized as Arts syndrome, Charcot Marie Tooth syndrome, and non-syndromic hearing loss segregating in an X-linked pattern. Severity and presence of phenotypes makes it difficult to separate the non-syndromic and syndromic forms of hearing loss disorders associated with this gene. http://purl.obolibrary.org/obo/MONDO_0100061 node EFO_0008896 RNA-Seq null http://www.ebi.ac.uk/efo/EFO_0008896 node MONDO_0020021 diaphragmatic or abdominal wall malformation null http://purl.obolibrary.org/obo/MONDO_0020021 node EFO_0005510 L2d-dauer molt null http://www.ebi.ac.uk/efo/EFO_0005510 node MONDO_0019473 enteropathy-associated T-cell lymphoma Editor note: consider moving ORDO class to SI subclass http://purl.obolibrary.org/obo/MONDO_0019473 node Orphanet_1114 Circumscribed cutaneous aplasia of the vertex null http://www.orpha.net/ORDO/Orphanet_1114 node MONDO_0019296 subcutaneous tissue disease null http://purl.obolibrary.org/obo/MONDO_0019296 node CHEBI_43580 3-(1H-indol-3-yl)propanoic acid null http://purl.obolibrary.org/obo/CHEBI_43580 node Orphanet_261323 21q22.11q22.12 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261323 node EO_0007256 field study null http://purl.obolibrary.org/obo/EO_0007256 node EFO_0008497 chronic lung allograft dysfunction null http://www.ebi.ac.uk/efo/EFO_0008497 node Orphanet_96106 Distal trisomy 16q null http://www.orpha.net/ORDO/Orphanet_96106 node CHEBI_74000 1-palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_74000 node Orphanet_79168 Disorder of bile acid synthesis null http://www.orpha.net/ORDO/Orphanet_79168 node NCBITaxon_1896 Streptomyces bikiniensis null http://purl.obolibrary.org/obo/NCBITaxon_1896 node Orphanet_356996 Intellectual disability - hypotonia - spasticity - sleep disorder null http://www.orpha.net/ORDO/Orphanet_356996 node EFO_0007956 monocyte:lymphocyte ratio null http://www.ebi.ac.uk/efo/EFO_0007956 node UBERON_0004454 tarsal region null http://purl.obolibrary.org/obo/UBERON_0004454 node CLO_0014024 GM17171 null http://purl.obolibrary.org/obo/CLO_0014024 node Orphanet_1202 Larynx atresia null http://www.orpha.net/ORDO/Orphanet_1202 node CHEBI_15368 acrolein null http://purl.obolibrary.org/obo/CHEBI_15368 node EFO_0005411 schizoaffective disorder null http://www.ebi.ac.uk/efo/EFO_0005411 node OBI_0001620 latitude null http://purl.obolibrary.org/obo/OBI_0001620 node MONDO_0030038 glaucoma, primary closed-angle null http://purl.obolibrary.org/obo/MONDO_0030038 node Orphanet_96074 Distal trisomy 7p null http://www.orpha.net/ORDO/Orphanet_96074 node EFO_0008585 ST Elevation Myocardial Infarction null http://www.ebi.ac.uk/efo/EFO_0008585 node EFO_1002049 glomerular disease null http://www.ebi.ac.uk/efo/EFO_1002049 node MONDO_0013196 colorectal cancer, hereditary nonpolyposis, type 8 null http://purl.obolibrary.org/obo/MONDO_0013196 node GO_0050909 sensory perception of taste null http://purl.obolibrary.org/obo/GO_0050909 node EFO_0007563 RNAi library null http://www.ebi.ac.uk/efo/EFO_0007563 node Orphanet_272 Congenital muscular dystrophy, Fukuyama type null http://www.orpha.net/ORDO/Orphanet_272 node Orphanet_207101 Qualitative or quantitative defects of perlecan null http://www.orpha.net/ORDO/Orphanet_207101 node Orphanet_2728 Blepharophimosis-intellectual disability syndrome, Ohdo type null http://www.orpha.net/ORDO/Orphanet_2728 node EFO_0002796 Jurkat null http://www.ebi.ac.uk/efo/EFO_0002796 node EFO_0001293 gastrula 90%-epiboly null http://www.ebi.ac.uk/efo/EFO_0001293 node EFO_0007651 urinary S-phenylmercapturic acid measurement null http://www.ebi.ac.uk/efo/EFO_0007651 node FBbt_00005466 pericardial cell primordium null http://purl.obolibrary.org/obo/FBbt_00005466 node EFO_1000837 beriberi Editor note: check if beriberi should be made a subclass of TD http://www.ebi.ac.uk/efo/EFO_1000837 node EFO_0007464 Reoviridae infectious disease null http://www.ebi.ac.uk/efo/EFO_0007464 node Orphanet_2408 Lowe-Kohn-Cohen syndrome Editor note: check GARD assignment http://www.orpha.net/ORDO/Orphanet_2408 node EFO_0004577 infant head circumference null http://www.ebi.ac.uk/efo/EFO_0004577 node Orphanet_2816 Spastic paraplegia - epilepsy - intellectual disability Editor note: TODO fix GARD spelling http://www.orpha.net/ORDO/Orphanet_2816 node Orphanet_352709 CLN13 disease null http://www.orpha.net/ORDO/Orphanet_352709 node NCBITaxon_11277 Vesicular stomatitis Indiana virus null http://purl.obolibrary.org/obo/NCBITaxon_11277 node EFO_0001381 obsolete_Peyer's patch null http://www.ebi.ac.uk/efo/EFO_0001381 node HP_0000083 Renal insufficiency null http://purl.obolibrary.org/obo/HP_0000083 node Orphanet_488 Urachal cyst null http://www.orpha.net/ORDO/Orphanet_488 node Orphanet_320396 Autosomal recessive spastic paraplegia type 45 null http://www.orpha.net/ORDO/Orphanet_320396 node Orphanet_294939 Preaxial polydactyly of fingers null http://www.orpha.net/ORDO/Orphanet_294939 node MONDO_0018993 Charcot-Marie-Tooth disease type 2 null http://purl.obolibrary.org/obo/MONDO_0018993 node EFO_1001162 rickettsiosis We classify this using the NCBI Taxon for Rickettsiales to include ehlrichosis and scrub typhus http://www.ebi.ac.uk/efo/EFO_1001162 node EFO_1000925 epithelioid and spindle cell nevus null http://www.ebi.ac.uk/efo/EFO_1000925 node HP_0020139 History of recent insect bite null http://purl.obolibrary.org/obo/HP_0020139 node UBERON_0001348 brown adipose tissue null http://purl.obolibrary.org/obo/UBERON_0001348 node EFO_0001065 endometriosis null http://www.ebi.ac.uk/efo/EFO_0001065 node NCBITaxon_6237 Caenorhabditis null http://purl.obolibrary.org/obo/NCBITaxon_6237 node EFO_0000481 obsolete_event distant metastases candidate for deprecation http://www.ebi.ac.uk/efo/EFO_0000481 node MONDO_0016434 acquired dermis elastic tissue disorder null http://purl.obolibrary.org/obo/MONDO_0016434 node NCBITaxon_1351 Enterococcus faecalis null http://purl.obolibrary.org/obo/NCBITaxon_1351 node EFO_0007340 latent syphilis null http://www.ebi.ac.uk/efo/EFO_0007340 node CHEBI_82914 p-cresol sulfate null http://purl.obolibrary.org/obo/CHEBI_82914 node EFO_0003876 intermittent vascular claudication null http://www.ebi.ac.uk/efo/EFO_0003876 node EFO_0004665 biomolecular annotation design null http://www.ebi.ac.uk/efo/EFO_0004665 node NCBITaxon_1280 Staphylococcus aureus null http://purl.obolibrary.org/obo/NCBITaxon_1280 node EFO_0000294 bladder tumor null http://www.ebi.ac.uk/efo/EFO_0000294 node MONDO_0014330 obsolete eculizumab, poor response to null http://purl.obolibrary.org/obo/MONDO_0014330 node CHEBI_6541 losartan null http://purl.obolibrary.org/obo/CHEBI_6541 node NCBITaxon_63402 Arthroderma gypseum null http://purl.obolibrary.org/obo/NCBITaxon_63402 node CHEBI_37455 ribulose 5-phosphate null http://purl.obolibrary.org/obo/CHEBI_37455 node NCBITaxon_38767 Duvenhage virus null http://purl.obolibrary.org/obo/NCBITaxon_38767 node HP_0000629 Periorbital fullness null http://purl.obolibrary.org/obo/HP_0000629 node Orphanet_269505 Congenital communicating hydrocephalus null http://www.orpha.net/ORDO/Orphanet_269505 node EFO_0008080 cerebrospinal fluid volume measurement null http://www.ebi.ac.uk/efo/EFO_0008080 node EFO_0007153 asbestosis null http://www.ebi.ac.uk/efo/EFO_0007153 node EFO_0008200 Kunitz-type protease inhibitor 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008200 node NCBITaxon_35305 California encephalitis virus null http://purl.obolibrary.org/obo/NCBITaxon_35305 node Orphanet_165658 Genetic gastro-esophageal disease null http://www.orpha.net/ORDO/Orphanet_165658 node MONDO_0003059 bile duct cancer null http://purl.obolibrary.org/obo/MONDO_0003059 node EFO_0010482 gamma-aminoisobutyric acid measurement null http://www.ebi.ac.uk/efo/EFO_0010482 node Orphanet_576 Mucolipidosis type II null http://www.orpha.net/ORDO/Orphanet_576 node EFO_0004753 interleukin 12 measurement null http://www.ebi.ac.uk/efo/EFO_0004753 node EFO_0000382 obsolete_corpus uteri null http://www.ebi.ac.uk/efo/EFO_0000382 node EFO_1001063 noma null http://www.ebi.ac.uk/efo/EFO_1001063 node EFO_0003111 obsolete_neuronal ceroid lipofuscinosis null http://www.ebi.ac.uk/efo/EFO_0003111 node EFO_0007241 dracunculiasis null http://www.ebi.ac.uk/efo/EFO_0007241 node Orphanet_295087 Congenital absence of upper arm and forearm with hand present, bilateral null http://www.orpha.net/ORDO/Orphanet_295087 node CHEBI_85843 triacylglycerol 56:3 null http://purl.obolibrary.org/obo/CHEBI_85843 node Orphanet_295201 Congenital vertical talus, unilateral null http://www.orpha.net/ORDO/Orphanet_295201 node EFO_0010570 ventricular enlargement measurement null http://www.ebi.ac.uk/efo/EFO_0010570 node EFO_0005745 fGS/OSS null http://www.ebi.ac.uk/efo/EFO_0005745 node EFO_0004818 transforming growth factor beta measurement null http://www.ebi.ac.uk/efo/EFO_0004818 node EFO_0003332 zebrafish embryonic structure null http://www.ebi.ac.uk/efo/EFO_0003332 node UBERON_0005570 rhombomere 2 floor plate null http://purl.obolibrary.org/obo/UBERON_0005570 node CL_0000971 IgM memory B cell IgM memory B cells are also reportedly CD1c-positive, CD95-positive, CD80-positive, CD84-positive, CD86-positive, CD150-negative, CD229-positive, CD289-positive, and CD290-positive. Transcription factors: Notch2-positive, PAX5-positive, SpiB-positive, Ets1-positive, and OBF1-positive. http://purl.obolibrary.org/obo/CL_0000971 node Orphanet_98708 Pigmentation disorder with eye involvement, excluding albinism null http://www.orpha.net/ORDO/Orphanet_98708 node HP_0006829 Severe muscular hypotonia null http://purl.obolibrary.org/obo/HP_0006829 node EFO_0009022 Bardet-Biedl syndrome 10 null http://www.ebi.ac.uk/efo/EFO_0009022 node MONDO_0000894 mucinous bronchioloalveolar adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0000894 node EFO_0010067 corneal resistance factor null http://www.ebi.ac.uk/efo/EFO_0010067 node Orphanet_100924 Porphyria due to ALA dehydratase deficiency null http://www.orpha.net/ORDO/Orphanet_100924 node CL_0002378 immature Vgamma2-positive fetal thymocyte NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. http://purl.obolibrary.org/obo/CL_0002378 node EFO_0010548 xanthine measurement null http://www.ebi.ac.uk/efo/EFO_0010548 node EFO_0000071 CS57715 null http://www.ebi.ac.uk/efo/EFO_0000071 node EFO_0007752 VCaP null http://www.ebi.ac.uk/efo/EFO_0007752 node EFO_0006825 trans/cis-18:2 fatty acid measurement null http://www.ebi.ac.uk/efo/EFO_0006825 node CHEBI_17158 methyl glyoxal null http://purl.obolibrary.org/obo/CHEBI_17158 node EFO_0003420 obsolete_olfactory placode null http://www.ebi.ac.uk/efo/EFO_0003420 node Orphanet_1454 Joubert syndrome with hepatic defect null http://www.orpha.net/ORDO/Orphanet_1454 node EFO_0003233 erythropoietin null http://www.ebi.ac.uk/efo/EFO_0003233 node EFO_0010769 CCL28 measurement null http://www.ebi.ac.uk/efo/EFO_0010769 node HP_0001100 Heterochromia iridis null http://purl.obolibrary.org/obo/HP_0001100 node EFO_0009110 Ficoll-Hypaque method null http://www.ebi.ac.uk/efo/EFO_0009110 node EFO_1000058 nasopharyngeal squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_1000058 node CHEBI_57562 (R)-2-hydroxyoctadecanoate null http://purl.obolibrary.org/obo/CHEBI_57562 node Orphanet_2898 X-linked intellectual disability - plagiocephaly null http://www.orpha.net/ORDO/Orphanet_2898 node EFO_0010155 taste liking measurement null http://www.ebi.ac.uk/efo/EFO_0010155 node Orphanet_247604 Juvenile primary lateral sclerosis null http://www.orpha.net/ORDO/Orphanet_247604 node CHEBI_22907 bleomycin null http://purl.obolibrary.org/obo/CHEBI_22907 node EFO_0002890 renal carcinoma null http://www.ebi.ac.uk/efo/EFO_0002890 node Orphanet_1519 Hypertelorism, Teebi type null http://www.orpha.net/ORDO/Orphanet_1519 node EFO_0007840 pesticide exposure measurement null http://www.ebi.ac.uk/efo/EFO_0007840 node EFO_0006913 prefrontal cortex cytoarchtiectural measurement null http://www.ebi.ac.uk/efo/EFO_0006913 node EFO_0006708 OCI-LY10 null http://www.ebi.ac.uk/efo/EFO_0006708 node EFO_0007653 clinical ideal cardiovascular health null http://www.ebi.ac.uk/efo/EFO_0007653 node EFO_0004270 restless legs syndrome null http://www.ebi.ac.uk/efo/EFO_0004270 node EFO_0010857 HG02970 null http://www.ebi.ac.uk/efo/EFO_0010857 node CHEBI_18050 L-glutamine null http://purl.obolibrary.org/obo/CHEBI_18050 node Orphanet_98972 Central cloudy dystrophy of Francois null http://www.orpha.net/ORDO/Orphanet_98972 node UBERON_0005096 descending thin limb null http://purl.obolibrary.org/obo/UBERON_0005096 node EFO_0005816 microtubule-associated protein tau null http://www.ebi.ac.uk/efo/EFO_0005816 node HP_0011918 Clinodactyly of the 4th toe null http://purl.obolibrary.org/obo/HP_0011918 node EFO_0009939 Antimigraine preparation use measurement null http://www.ebi.ac.uk/efo/EFO_0009939 node Orphanet_79262 Adult neuronal ceroid lipofuscinosis null http://www.orpha.net/ORDO/Orphanet_79262 node NCBITaxon_343990 Populus maximowiczii x Populus nigra null http://purl.obolibrary.org/obo/NCBITaxon_343990 node Orphanet_325638 Syndrome with disorder of sex development of gynecological interest null http://www.orpha.net/ORDO/Orphanet_325638 node Orphanet_261629 Alagille syndrome due to a NOTCH2 point mutation null http://www.orpha.net/ORDO/Orphanet_261629 node MONDO_0011213 Pierpont syndrome null http://purl.obolibrary.org/obo/MONDO_0011213 node CL_0000019 sperm null http://purl.obolibrary.org/obo/CL_0000019 node EFO_0005904 H7-hESC null http://www.ebi.ac.uk/efo/EFO_0005904 node EFO_0008750 G4 ChIP-seq null http://www.ebi.ac.uk/efo/EFO_0008750 node EFO_0008499 DNA repair deficiency A DNA repair-deficiency disorder is a medical condition due to reduced functionality of DNA repair. http://www.ebi.ac.uk/efo/EFO_0008499 node EFO_0009546 eye adnexa disease null http://www.ebi.ac.uk/efo/EFO_0009546 node MONDO_0100039 CDKL5 disorder Subtypes of the heterogeneous, eponymously named Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome are caused by mutations in the gene CDKL5. The common and most penetrant phenotype shared among these disease entities is early onset epilepsy, progressive microcephaly, dysmorphic facial features, and intellectual disability, with stereotypic hand movements, respiratory impairment with breath holding and hyperventilation having variable phenotypic expressivity. http://purl.obolibrary.org/obo/MONDO_0100039 node EFO_0005037 aortic root size null http://www.ebi.ac.uk/efo/EFO_0005037 node CLO_0016454 GM17844 null http://purl.obolibrary.org/obo/CLO_0016454 node Orphanet_397964 Combined immunodeficiency due to MALT1 deficiency null http://www.orpha.net/ORDO/Orphanet_397964 node CHEBI_3023 benzbromarone null http://purl.obolibrary.org/obo/CHEBI_3023 node UO_0000149 derived time unit null http://purl.obolibrary.org/obo/UO_0000149 node Orphanet_91357 Duplication of the esophagus null http://www.orpha.net/ORDO/Orphanet_91357 node Orphanet_401973 MEND syndrome null http://www.orpha.net/ORDO/Orphanet_401973 node EFO_0002961 NTera2 derived dopaminergic neuronal like cells null http://www.ebi.ac.uk/efo/EFO_0002961 node EFO_0008587 gender identity disorder null http://www.ebi.ac.uk/efo/EFO_0008587 node EFO_0009634 organ donor null http://www.ebi.ac.uk/efo/EFO_0009634 node EFO_0009429 Mycobacterium infection null http://www.ebi.ac.uk/efo/EFO_0009429 node CLO_0031280 GM14474 null http://purl.obolibrary.org/obo/CLO_0031280 node EFO_1001978 3MC syndrome 1 null http://www.ebi.ac.uk/efo/EFO_1001978 node EFO_1001883 Dendritic keratitis null http://www.ebi.ac.uk/efo/EFO_1001883 node Orphanet_101042 Taussig-Bing syndrome null http://www.orpha.net/ORDO/Orphanet_101042 node Orphanet_98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 null http://www.orpha.net/ORDO/Orphanet_98795 node Orphanet_268740 Upper thoracic spina bifida aperta null http://www.orpha.net/ORDO/Orphanet_268740 node EFO_0002201 obsolete_HT1080 null http://www.ebi.ac.uk/efo/EFO_0002201 node Orphanet_217581 Lysosomal disease with hypertrophic cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_217581 node CHEBI_15891 taurine null http://purl.obolibrary.org/obo/CHEBI_15891 node UBERON_0002394 bile duct null http://purl.obolibrary.org/obo/UBERON_0002394 node Orphanet_306765 Motor stereotypies null http://www.orpha.net/ORDO/Orphanet_306765 node GO_0030667 secretory granule membrane null http://purl.obolibrary.org/obo/GO_0030667 node EFO_0004830 caudate nucleus volume null http://www.ebi.ac.uk/efo/EFO_0004830 node Orphanet_93952 X-linked intellectual disability, Hedera type null http://www.orpha.net/ORDO/Orphanet_93952 node Orphanet_231679 Isolated growth hormone deficiency type II null http://www.orpha.net/ORDO/Orphanet_231679 node UBERON_0001332 prepuce of penis null http://purl.obolibrary.org/obo/UBERON_0001332 node EFO_0008301 toll-like receptor 4:Lymphocyte antigen 96 complex measurement null http://www.ebi.ac.uk/efo/EFO_0008301 node EFO_0001932 obsolete_hypopharynx Obsolete - duplication use laryngopharynx EFO_0001388 instead http://www.ebi.ac.uk/efo/EFO_0001932 node HP_0002510 Spastic tetraplegia null http://purl.obolibrary.org/obo/HP_0002510 node MONDO_0002003 papilledema null http://purl.obolibrary.org/obo/MONDO_0002003 node EFO_1001468 mantle cell null http://www.ebi.ac.uk/efo/EFO_1001468 node EFO_0001242 SUM185PE null http://www.ebi.ac.uk/efo/EFO_0001242 node Orphanet_183643 Genetic polyendocrinopathy null http://www.orpha.net/ORDO/Orphanet_183643 node Orphanet_50943 Keratolytic winter erythema null http://www.orpha.net/ORDO/Orphanet_50943 node Orphanet_247691 Retinal vasculopathy and cerebral leukodystrophy Editor note: Orphanet:3421 is obsolete in the 2017 edition of ORDO, but the Orphanet website shows as active, see https://github.com/Orphanet/ORDO/issues/1 http://www.orpha.net/ORDO/Orphanet_247691 node MONDO_0032915 long QT syndrome 16 null http://purl.obolibrary.org/obo/MONDO_0032915 node NCBITaxon_31741 Wheat streak mosaic virus null http://purl.obolibrary.org/obo/NCBITaxon_31741 node EFO_0008418 susceptibility to rubella infection measurement null http://www.ebi.ac.uk/efo/EFO_0008418 node Orphanet_88616 Autosomal recessive non-syndromic intellectual disability Editor note: misclassified in ORDO: https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 http://www.orpha.net/ORDO/Orphanet_88616 node MONDO_0018677 visceral heterotaxy null http://purl.obolibrary.org/obo/MONDO_0018677 node Orphanet_357158 Mandibulofacial dysostosis - macroblepharon - macrostomia null http://www.orpha.net/ORDO/Orphanet_357158 node Orphanet_276258 Xeroderma pigmentosum complementation group D null http://www.orpha.net/ORDO/Orphanet_276258 node EFO_0000799 obsolete_appendage null http://www.ebi.ac.uk/efo/EFO_0000799 node EFO_1000733 melanoacanthoma null http://www.ebi.ac.uk/efo/EFO_1000733 node EFO_0008202 L-Selectin measurement null http://www.ebi.ac.uk/efo/EFO_0008202 node EFO_0010830 lobular capilliary hemangioma null http://www.ebi.ac.uk/efo/EFO_0010830 node EFO_0000204 obsolete_Scott syndrome null http://www.ebi.ac.uk/efo/EFO_0000204 node UBERON_0002540 lateral line system null http://purl.obolibrary.org/obo/UBERON_0002540 node NCBITaxon_227859 SARS coronavirus null http://purl.obolibrary.org/obo/NCBITaxon_227859 node CHEBI_83040 epiandrosterone sulfate null http://purl.obolibrary.org/obo/CHEBI_83040 node EFO_0002092 dye swap replicate null http://www.ebi.ac.uk/efo/EFO_0002092 node EFO_0005315 induced mutation null http://www.ebi.ac.uk/efo/EFO_0005315 node UBERON_0000323 late embryo null http://purl.obolibrary.org/obo/UBERON_0000323 node EFO_0003825 serous adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0003825 node EFO_0000906 obsolete_accumbens nucleus null http://www.ebi.ac.uk/efo/EFO_0000906 node EFO_1000340 Lymphoepithelioma-Like Lung Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000340 node EFO_1000135 Borderline Ovarian Brenner Tumor null http://www.ebi.ac.uk/efo/EFO_1000135 node Orphanet_2975 46,XX disorder of sex development - skeletal anomalies null http://www.orpha.net/ORDO/Orphanet_2975 node EFO_1000616 Uveal Melanoma null http://www.ebi.ac.uk/efo/EFO_1000616 node EFO_0003638 obsolete_tooth 5V null http://www.ebi.ac.uk/efo/EFO_0003638 node Orphanet_1145 X-linked distal arthrogryposis multiplex congenita null http://www.orpha.net/ORDO/Orphanet_1145 node CL_0000774 band form eosinophil null http://purl.obolibrary.org/obo/CL_0000774 node EFO_0010232 osteocalcin measurement null http://www.ebi.ac.uk/efo/EFO_0010232 node Orphanet_2285 Primary basilar impression null http://www.orpha.net/ORDO/Orphanet_2285 node EFO_0010713 10X Immune profiling null http://www.ebi.ac.uk/efo/EFO_0010713 node NCBITaxon_5833 Plasmodium falciparum null http://purl.obolibrary.org/obo/NCBITaxon_5833 node CL_0000611 eosinophil progenitor cell These cells are CD34-positive, CD45RA-negative, CD71-negative, and lineage-negative (CD2, CD3 epsilon, CD4, CD5, CD8a, CD14, CD19, CD20, integrin alpha-M, NCAM-1, SCA-1, Ly6G, Ly76). http://purl.obolibrary.org/obo/CL_0000611 node Orphanet_228349 CLN2 disease null http://www.orpha.net/ORDO/Orphanet_228349 node EFO_0005403 response to dietary potassium supplementation null http://www.ebi.ac.uk/efo/EFO_0005403 node EFO_0000105 obsolete_CNS brain cerebellum MMHCC Obsolete: No longer required in EFO http://www.ebi.ac.uk/efo/EFO_0000105 node MONDO_0021501 benign neoplasm of small intestine null http://purl.obolibrary.org/obo/MONDO_0021501 node MONDO_0054782 leukodystrophy, hypomyelinating, 15 null http://purl.obolibrary.org/obo/MONDO_0054782 node MONDO_0004321 endometrial mixed adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0004321 node UBERON_0009114 cervical thymus null http://purl.obolibrary.org/obo/UBERON_0009114 node EFO_0005039 hippocampal atrophy null http://www.ebi.ac.uk/efo/EFO_0005039 node EFO_1000223 Duodenal Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000223 node EFO_0003726 obsolete_kidney (Pongon pygmaeus) null http://www.ebi.ac.uk/efo/EFO_0003726 node EFO_0000807 obsolete_integumental system null http://www.ebi.ac.uk/efo/EFO_0000807 node EFO_0010320 pars orbitalis volume measurement null http://www.ebi.ac.uk/efo/EFO_0010320 node EFO_0006572 EJM null http://www.ebi.ac.uk/efo/EFO_0006572 node Orphanet_2373 Congenital laryngomalacia null http://www.orpha.net/ORDO/Orphanet_2373 node MONDO_0017024 secondary interstitial lung disease specific to childhood associated with a metabolic disease null http://purl.obolibrary.org/obo/MONDO_0017024 node EFO_0010801 tumor necrosis factor ligand superfamily member 12 measurement null http://www.ebi.ac.uk/efo/EFO_0010801 node EFO_0007368 miliary tuberculosis null http://www.ebi.ac.uk/efo/EFO_0007368 node UBERON_0003307 floor plate of midbrain null http://purl.obolibrary.org/obo/UBERON_0003307 node EFO_0006395 G111 null http://www.ebi.ac.uk/efo/EFO_0006395 node EFO_0000073 CS57717 null http://www.ebi.ac.uk/efo/EFO_0000073 node Orphanet_26106 Familial gastric cancer null http://www.orpha.net/ORDO/Orphanet_26106 node MONDO_0012868 thrombophilia due to protein S deficiency, autosomal dominant Note that ORDO appears to classify as hereditary and acquired. http://purl.obolibrary.org/obo/MONDO_0012868 node NCBITaxon_98746 Festuca brevipila null http://purl.obolibrary.org/obo/NCBITaxon_98746 node EFO_0009997 EpiRADSeq null http://www.ebi.ac.uk/efo/EFO_0009997 node Orphanet_300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency null http://www.orpha.net/ORDO/Orphanet_300284 node Orphanet_85325 X-linked intellectual disability, Stevenson type null http://www.orpha.net/ORDO/Orphanet_85325 node EFO_0008997 synovitis null http://www.ebi.ac.uk/efo/EFO_0008997 node CL_0000920 CD8-positive, CD28-negative, alpha-beta regulatory T cell null http://purl.obolibrary.org/obo/CL_0000920 node MONDO_0021148 female reproductive system neoplasm null http://purl.obolibrary.org/obo/MONDO_0021148 node EFO_0005712 RPMI-7951 null http://www.ebi.ac.uk/efo/EFO_0005712 node EFO_0005507 dauer larva null http://www.ebi.ac.uk/efo/EFO_0005507 node MONDO_0100100 SELENON-related myopathy null http://purl.obolibrary.org/obo/MONDO_0100100 node EFO_0007456 pseudomyxoma peritonei null http://www.ebi.ac.uk/efo/EFO_0007456 node CHEBI_28833 gibberellin A3 null http://purl.obolibrary.org/obo/CHEBI_28833 node EFO_0007269 Felty's syndrome null http://www.ebi.ac.uk/efo/EFO_0007269 node EFO_0005294 chronic myelogenous leukemia cell line null http://www.ebi.ac.uk/efo/EFO_0005294 node OBI_0400116 thermal cycler null http://purl.obolibrary.org/obo/OBI_0400116 node CHEBI_48279 serotonergic antagonist null http://purl.obolibrary.org/obo/CHEBI_48279 node Orphanet_85293 X-linked intellectual disability, Cabezas type OMIM obsoleted 300360 and moved this to 300354 so I merged these - smb. http://www.orpha.net/ORDO/Orphanet_85293 node MONDO_0007329 cirrhosis, familial null http://purl.obolibrary.org/obo/MONDO_0007329 node MONDO_0019558 discoid lupus erythematosus null http://purl.obolibrary.org/obo/MONDO_0019558 node EFO_0009237 Estimated Platelets Measurement null http://www.ebi.ac.uk/efo/EFO_0009237 node EFO_0006516 superior frontal gyrus grey matter volume measurement null http://www.ebi.ac.uk/efo/EFO_0006516 node EFO_0006339 smooth surface dental caries null http://www.ebi.ac.uk/efo/EFO_0006339 node Orphanet_324540 Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability null http://www.orpha.net/ORDO/Orphanet_324540 node Orphanet_79357 Hereditary palmoplantar keratoderma null http://www.orpha.net/ORDO/Orphanet_79357 node Orphanet_2589 Myoclonus - cerebellar ataxia - deafness null http://www.orpha.net/ORDO/Orphanet_2589 node MONDO_0003413 hair follicle neoplasm null http://purl.obolibrary.org/obo/MONDO_0003413 node NCBITaxon_265669 Listeria monocytogenes serotype 4b str. F2365 null http://purl.obolibrary.org/obo/NCBITaxon_265669 node EFO_0007602 total ventricular volume measurement null http://www.ebi.ac.uk/efo/EFO_0007602 node EFO_0009325 basal ganglia growth measurement null http://www.ebi.ac.uk/efo/EFO_0009325 node EFO_0000988 gametophyte null http://www.ebi.ac.uk/efo/EFO_0000988 node EFO_0006604 JJ012 null http://www.ebi.ac.uk/efo/EFO_0006604 node CL_0002449 CD94-positive Ly49CI-positive natural killer cell, mouse null http://purl.obolibrary.org/obo/CL_0002449 node UBERON_0000990 reproductive system null http://purl.obolibrary.org/obo/UBERON_0000990 node EFO_0009138 laminin alpha 2-related dystrophy null http://www.ebi.ac.uk/efo/EFO_0009138 node Orphanet_169157 T-B+ severe combined immunodeficiency due to CD45 deficiency null http://www.orpha.net/ORDO/Orphanet_169157 node EFO_0008293 stromal cell-derived factor 1 alpha measurement null http://www.ebi.ac.uk/efo/EFO_0008293 node EFO_0008752 GMUCT 1.0 null http://www.ebi.ac.uk/efo/EFO_0008752 node MONDO_0020585 anemia due to erythrocyte enzyme disorder null http://purl.obolibrary.org/obo/MONDO_0020585 node NCBITaxon_1588 Lactobacillus hilgardii null http://purl.obolibrary.org/obo/NCBITaxon_1588 node Orphanet_79445 Pseudopseudohypoparathyroidism null http://www.orpha.net/ORDO/Orphanet_79445 node Orphanet_461 Recessive X-linked ichthyosis null http://www.orpha.net/ORDO/Orphanet_461 node MONDO_0002454 thyroid adenoma (disease) Editor note: consider merging with follicular thyroid adenoma http://purl.obolibrary.org/obo/MONDO_0002454 node EFO_0002281 NCI-H2170 null http://www.ebi.ac.uk/efo/EFO_0002281 node HP_0001985 Hypoketotic hypoglycemia Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better. http://purl.obolibrary.org/obo/HP_0001985 node EFO_0002740 NOD.scid null http://www.ebi.ac.uk/efo/EFO_0002740 node MONDO_0044877 paraneoplastic cerebellar degeneration null http://purl.obolibrary.org/obo/MONDO_0044877 node EFO_0000772 pneumococcal infection null http://www.ebi.ac.uk/efo/EFO_0000772 node Orphanet_98486 Metabolic myopathy null http://www.orpha.net/ORDO/Orphanet_98486 node NCBITaxon_235443 Cryptococcus neoformans var. grubii H99 null http://purl.obolibrary.org/obo/NCBITaxon_235443 node EFO_0001179 HCC3153 null http://www.ebi.ac.uk/efo/EFO_0001179 node EFO_0000595 monophasic synovial sarcoma null http://www.ebi.ac.uk/efo/EFO_0000595 node Orphanet_319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency null http://www.orpha.net/ORDO/Orphanet_319558 node EFO_1001276 Brain Stem Hemorrhage, Traumatic null http://www.ebi.ac.uk/efo/EFO_1001276 node Orphanet_93422 Type 11 collagen-related bone disorder null http://www.orpha.net/ORDO/Orphanet_93422 node EFO_0004779 CHAOS measure null http://www.ebi.ac.uk/efo/EFO_0004779 node EFO_1000890 Dandy-Walker syndrome null http://www.ebi.ac.uk/efo/EFO_1000890 node EFO_0008381 total cortical area measurement null http://www.ebi.ac.uk/efo/EFO_0008381 node EFO_0003827 pulmonary embolism null http://www.ebi.ac.uk/efo/EFO_0003827 node HP_0002459 obsolete Dysautonomia null http://purl.obolibrary.org/obo/HP_0002459 node EFO_0003137 HCC827 null http://www.ebi.ac.uk/efo/EFO_0003137 node HP_0006882 Severe hydrocephalus null http://purl.obolibrary.org/obo/HP_0006882 node UO_0000003 time unit null http://purl.obolibrary.org/obo/UO_0000003 node NCBITaxon_1513 Clostridium tetani null http://purl.obolibrary.org/obo/NCBITaxon_1513 node CLO_0014377 GM17221 null http://purl.obolibrary.org/obo/CLO_0014377 node HP_0006695 Atrioventricular canal defect During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. http://purl.obolibrary.org/obo/HP_0006695 node Orphanet_83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency null http://www.orpha.net/ORDO/Orphanet_83639 node EFO_0001647 tissue modifier null http://www.ebi.ac.uk/efo/EFO_0001647 node EFO_0000478 esophageal adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0000478 node EFO_1001159 Rh isoimmunization null http://www.ebi.ac.uk/efo/EFO_1001159 node CHEBI_63935 cyclazosin hydrochloride null http://purl.obolibrary.org/obo/CHEBI_63935 node NCBITaxon_1911 Streptomyces griseus null http://purl.obolibrary.org/obo/NCBITaxon_1911 node NCBITaxon_267608 Ralstonia solanacearum GMI1000 null http://purl.obolibrary.org/obo/NCBITaxon_267608 node EFO_0002592 trophozoite null http://www.ebi.ac.uk/efo/EFO_0002592 node EFO_0002387 obsolete_UMUC3 null http://www.ebi.ac.uk/efo/EFO_0002387 node EFO_0003915 obsolete_congenital abnormality null http://www.ebi.ac.uk/efo/EFO_0003915 node Orphanet_1778 Facial dysmorphism - shawl scrotum - joint laxity null http://www.orpha.net/ORDO/Orphanet_1778 node EFO_1000791 acidophil adenoma null http://www.ebi.ac.uk/efo/EFO_1000791 node PO_0005052 plant callus Consists primarily of parenchyma cells but may contain other cell types as the callus begins to differentiate. May be formed as a result of wounding or may develop in culture. http://purl.obolibrary.org/obo/PO_0005052 node MONDO_0017592 staphylococcal toxemia null http://purl.obolibrary.org/obo/MONDO_0017592 node EFO_0003048 HES2 null http://www.ebi.ac.uk/efo/EFO_0003048 node Orphanet_295195 Synpolydactyly type 1 null http://www.orpha.net/ORDO/Orphanet_295195 node EFO_1000424 Ovarian Microcystic Stromal Tumor null http://www.ebi.ac.uk/efo/EFO_1000424 node EFO_0010479 fructose-6-phosphate measurement null http://www.ebi.ac.uk/efo/EFO_0010479 node MONDO_0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 null http://purl.obolibrary.org/obo/MONDO_0011571 node EFO_0002475 obsolete_suprachiasmatic nucleus null http://www.ebi.ac.uk/efo/EFO_0002475 node EFO_0010521 phosphocreatine measurement null http://www.ebi.ac.uk/efo/EFO_0010521 node Orphanet_134 Ketoacidosis due to beta-ketothiolase deficiency null http://www.orpha.net/ORDO/Orphanet_134 node MONDO_0014415 kallikrein, decreased urinary activity of null http://purl.obolibrary.org/obo/MONDO_0014415 node Orphanet_1866 Focal, segmental or multifocal dystonia null http://www.orpha.net/ORDO/Orphanet_1866 node HP_0000155 Oral ulcer null http://purl.obolibrary.org/obo/HP_0000155 node CHEBI_39867 valproic acid null http://purl.obolibrary.org/obo/CHEBI_39867 node Orphanet_101108 Spinocerebellar ataxia type 23 null http://www.orpha.net/ORDO/Orphanet_101108 node ZFA_0005040 posterior lateral mesoderm null http://purl.obolibrary.org/obo/ZFA_0005040 node EFO_0004075 CB155 null http://www.ebi.ac.uk/efo/EFO_0004075 node UBERON_0000014 zone of skin null http://purl.obolibrary.org/obo/UBERON_0000014 node EFO_1000031 obsolete_genetic disease null http://www.ebi.ac.uk/efo/EFO_1000031 node EFO_1000512 Rhabdoid Tumor of the Kidney null http://www.ebi.ac.uk/efo/EFO_1000512 node MONDO_0021327 carcinoma of urethra null http://purl.obolibrary.org/obo/MONDO_0021327 node EFO_0004461 iron biomarker measurement null http://www.ebi.ac.uk/efo/EFO_0004461 node EFO_0003534 obsolete_dorsal telencephalon null http://www.ebi.ac.uk/efo/EFO_0003534 node CLO_0014951 GM17118 null http://purl.obolibrary.org/obo/CLO_0014951 node EFO_0002563 embryonic day 12.5 null http://www.ebi.ac.uk/efo/EFO_0002563 node EFO_0010404 triacylglycerol 48:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010404 node MONDO_0019851 acquired primary ovarian failure null http://purl.obolibrary.org/obo/MONDO_0019851 node CLO_0016511 GM17818 null http://purl.obolibrary.org/obo/CLO_0016511 node MONDO_0100070 neuroendocrine disease null http://purl.obolibrary.org/obo/MONDO_0100070 node UBERON_0007106 chorionic villus null http://purl.obolibrary.org/obo/UBERON_0007106 node MONDO_0015342 acute transverse myelitis null http://purl.obolibrary.org/obo/MONDO_0015342 node Orphanet_1310 Caffey disease null http://www.orpha.net/ORDO/Orphanet_1310 node MONDO_0041447 metastatic malignant neoplasm in the colon null http://purl.obolibrary.org/obo/MONDO_0041447 node EFO_0005090 basophil count null http://www.ebi.ac.uk/efo/EFO_0005090 node MONDO_0007182 Machado-Joseph disease null http://purl.obolibrary.org/obo/MONDO_0007182 node EFO_0007926 hyper-inflammatory immune response null http://www.ebi.ac.uk/efo/EFO_0007926 node UBERON_0002021 occipital lobe null http://purl.obolibrary.org/obo/UBERON_0002021 node EFO_0004521 adhesion factor null http://www.ebi.ac.uk/efo/EFO_0004521 node Orphanet_319340 Carney complex-trismus-pseudocamptodactyly syndrome null http://www.orpha.net/ORDO/Orphanet_319340 node EFO_0007749 EL null http://www.ebi.ac.uk/efo/EFO_0007749 node EFO_0004344 birth weight null http://www.ebi.ac.uk/efo/EFO_0004344 node EFO_0003417 obsolete_ring gland primordium null http://www.ebi.ac.uk/efo/EFO_0003417 node EFO_0010011 HiChIP null http://www.ebi.ac.uk/efo/EFO_0010011 node EFO_0007059 germplasm null http://www.ebi.ac.uk/efo/EFO_0007059 node PO_0020142 stem internode null http://purl.obolibrary.org/obo/PO_0020142 node MONDO_0045015 carbohydrate transport disease null http://purl.obolibrary.org/obo/MONDO_0045015 node NCBITaxon_7782 Leucoraja erinacea null http://purl.obolibrary.org/obo/NCBITaxon_7782 node UBERON_0002067 dermis null http://purl.obolibrary.org/obo/UBERON_0002067 node CHEBI_63954 ionomycin null http://purl.obolibrary.org/obo/CHEBI_63954 node EFO_0008941 sNuc-Seq null http://www.ebi.ac.uk/efo/EFO_0008941 node CHEBI_38828 non ionic surfactant role null http://purl.obolibrary.org/obo/CHEBI_38828 node CHEBI_137552 CE(16:1) null http://purl.obolibrary.org/obo/CHEBI_137552 node EFO_0007837 anti-citrullinated protein antibody seropositivity null http://www.ebi.ac.uk/efo/EFO_0007837 node EFO_0005371 HCC1195 null http://www.ebi.ac.uk/efo/EFO_0005371 node EFO_0007147 anogenital venereal wart null http://www.ebi.ac.uk/efo/EFO_0007147 node HP_0030972 Abnormal systemic blood pressure null http://purl.obolibrary.org/obo/HP_0030972 node CHEBI_133738 2-hydroxyhexanoate null http://purl.obolibrary.org/obo/CHEBI_133738 node MONDO_0019822 arterial duct anomaly null http://purl.obolibrary.org/obo/MONDO_0019822 node NCBITaxon_5054 Eurotium amstelodami null http://purl.obolibrary.org/obo/NCBITaxon_5054 node EFO_0006574 EVSA-T null http://www.ebi.ac.uk/efo/EFO_0006574 node NCBITaxon_408 Methylobacterium extorquens null http://purl.obolibrary.org/obo/NCBITaxon_408 node Orphanet_2924 Isolated polycystic liver disease null http://www.orpha.net/ORDO/Orphanet_2924 node EFO_0006397 G118 null http://www.ebi.ac.uk/efo/EFO_0006397 node EFO_1000892 dental fluorosis null http://www.ebi.ac.uk/efo/EFO_1000892 node MONDO_0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities null http://purl.obolibrary.org/obo/MONDO_0060664 node EFO_1001510 specific language impairment null http://www.ebi.ac.uk/efo/EFO_1001510 node EFO_0009791 fatty acid desaturase enzyme activity measurement null http://www.ebi.ac.uk/efo/EFO_0009791 node CL_0002510 CD103-negative, langerin-positive lymph node dendritic cell null http://purl.obolibrary.org/obo/CL_0002510 node HP_0005957 Breathing dysregulation null http://purl.obolibrary.org/obo/HP_0005957 node FBdv_00005331 dorsal closure stage null http://purl.obolibrary.org/obo/FBdv_00005331 node HP_0004296 Abnormality of gastrointestinal vasculature null http://purl.obolibrary.org/obo/HP_0004296 node EFO_0001649 obsolete_anlage null http://www.ebi.ac.uk/efo/EFO_0001649 node Orphanet_79301 Congenital bile acid synthesis defect type 1 null http://www.orpha.net/ORDO/Orphanet_79301 node EFO_1000980 ideomotor apraxia null http://www.ebi.ac.uk/efo/EFO_1000980 node HP_0000737 Irritability null http://purl.obolibrary.org/obo/HP_0000737 node MONDO_0023258 glycogen storage disease type 1 due to SLC37A4 mutation This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i http://purl.obolibrary.org/obo/MONDO_0023258 node Orphanet_2825 PARC syndrome null http://www.orpha.net/ORDO/Orphanet_2825 node NCBITaxon_4232 Helianthus annuus null http://purl.obolibrary.org/obo/NCBITaxon_4232 node Orphanet_3062 X-linked intellectual disability, Schutz type null http://www.orpha.net/ORDO/Orphanet_3062 node Orphanet_2754 Joubert syndrome with orofaciodigital defect null http://www.orpha.net/ORDO/Orphanet_2754 node EFO_0008538 helping behavior measurement null http://www.ebi.ac.uk/efo/EFO_0008538 node NCBITaxon_3886 Phaseolus coccineus null http://purl.obolibrary.org/obo/NCBITaxon_3886 node EO_0007248 green house study null http://purl.obolibrary.org/obo/EO_0007248 node EFO_0006291 PLC/PRF/5 null http://www.ebi.ac.uk/efo/EFO_0006291 node EFO_0001737 hardware manufacturer null http://www.ebi.ac.uk/efo/EFO_0001737 node Orphanet_319635 amyloidosis cutis dyschromia null http://www.orpha.net/ORDO/Orphanet_319635 node EFO_1001834 pulmonary aspergillosis null http://www.ebi.ac.uk/efo/EFO_1001834 node MONDO_0002877 cervical carcinosarcoma null http://purl.obolibrary.org/obo/MONDO_0002877 node MONDO_0020294 atrial defect and interatrial communication null http://purl.obolibrary.org/obo/MONDO_0020294 node NCBITaxon_44397 Melospiza melodia null http://purl.obolibrary.org/obo/NCBITaxon_44397 node CHEBI_64566 lysophosphatidylcholine 18:1 null http://purl.obolibrary.org/obo/CHEBI_64566 node Orphanet_401835 Autosomal recessive spastic paraplegia type 70 null http://www.orpha.net/ORDO/Orphanet_401835 node EFO_0008626 vitreous hemorrhage null http://www.ebi.ac.uk/efo/EFO_0008626 node FBbt_00005606 embryonic foregut null http://purl.obolibrary.org/obo/FBbt_00005606 node EFO_0008072 cathepsin B measurement null http://www.ebi.ac.uk/efo/EFO_0008072 node Orphanet_79192 Disorder of pyridoxine metabolism null http://www.orpha.net/ORDO/Orphanet_79192 node Orphanet_264 Autosomal dominant limb-girdle muscular dystrophy type 1B null http://www.orpha.net/ORDO/Orphanet_264 node MONDO_0012237 nemaline myopathy 6 null http://purl.obolibrary.org/obo/MONDO_0012237 node EFO_1000394 Neurothekeoma null http://www.ebi.ac.uk/efo/EFO_1000394 node EFO_1001922 tracheobronchial amyloidosis null http://www.ebi.ac.uk/efo/EFO_1001922 node EFO_1001441 Tuberculosis, Bovine null http://www.ebi.ac.uk/efo/EFO_1001441 node CHEBI_17864 taurolithocholic acid sulfate null http://purl.obolibrary.org/obo/CHEBI_17864 node EFO_0010491 glycocholate measurement null http://www.ebi.ac.uk/efo/EFO_0010491 node EFO_0005871 embryonic stage 11 Temporal ordering number - 310. http://www.ebi.ac.uk/efo/EFO_0005871 node EFO_0004944 T4 tumor stage null http://www.ebi.ac.uk/efo/EFO_0004944 node UBERON_0002345 descending thoracic aorta null http://purl.obolibrary.org/obo/UBERON_0002345 node EFO_0008847 PARIS null http://www.ebi.ac.uk/efo/EFO_0008847 node Orphanet_329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy null http://www.orpha.net/ORDO/Orphanet_329178 node EFO_0002283 NCI-H2195 null http://www.ebi.ac.uk/efo/EFO_0002283 node EFO_0001356 familial amyotrophic lateral sclerosis null http://www.ebi.ac.uk/efo/EFO_0001356 node EFO_1000577 Thymic Sarcomatoid Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000577 node CHEBI_37960 dye role null http://purl.obolibrary.org/obo/CHEBI_37960 node EFO_1000482 obsolete_pleomorphic breast carcinoma null http://www.ebi.ac.uk/efo/EFO_1000482 node HP_0001371 Flexion contracture null http://purl.obolibrary.org/obo/HP_0001371 node Orphanet_163961 X-linked intellectual disability, Kroes type null http://www.orpha.net/ORDO/Orphanet_163961 node BTO_0000281 conidiophore null http://purl.obolibrary.org/obo/BTO_0000281 node EFO_1000829 bacterial conjunctivitis null http://www.ebi.ac.uk/efo/EFO_1000829 node Orphanet_231237 Delta-beta-thalassemia null http://www.orpha.net/ORDO/Orphanet_231237 node EFO_0010926 proteinase-activated receptor 1 measurement null http://www.ebi.ac.uk/efo/EFO_0010926 node Orphanet_276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency null http://www.orpha.net/ORDO/Orphanet_276598 node EFO_0002371 SW780 null http://www.ebi.ac.uk/efo/EFO_0002371 node EFO_0002166 DMS79 null http://www.ebi.ac.uk/efo/EFO_0002166 node EFO_0001239 SUM1315MO2 null http://www.ebi.ac.uk/efo/EFO_0001239 node MONDO_0013334 cocoon syndrome null http://purl.obolibrary.org/obo/MONDO_0013334 node PO_0025504 fruit size up to 10% stage Succeeds a fruit initiation stage (PO:0025503) and proceeds a fruit size 10 to 30% stage (PO:0025505). This term can only be used if the final size of the fruit is known. This stage is to be used for an individual fruit. For the development stage of a whole plant (PO:0000003), use whole plant fruit formation stage up to 10% (PO:0007032). http://purl.obolibrary.org/obo/PO_0025504 node EFO_0005560 hereditary multiple exostoses null http://www.ebi.ac.uk/efo/EFO_0005560 node Orphanet_79207 Disorder of lysosomal amino acid transport null http://www.orpha.net/ORDO/Orphanet_79207 node Orphanet_2439 Patterson-Stevenson-Fontaine syndrome null http://www.orpha.net/ORDO/Orphanet_2439 node HP_0001272 Cerebellar atrophy Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss. http://purl.obolibrary.org/obo/HP_0001272 node CHEBI_85736 triacylglycerol 52:2 null http://purl.obolibrary.org/obo/CHEBI_85736 node EFO_0006763 SUP-B15 null http://www.ebi.ac.uk/efo/EFO_0006763 node EFO_0003380 obsolete_pars intercerebralis primordium null http://www.ebi.ac.uk/efo/EFO_0003380 node Orphanet_1259 Blepharoptosis - myopia - ectopia lentis null http://www.orpha.net/ORDO/Orphanet_1259 node MONDO_0015900 hypoaldosteronism disease Editor note: we place the GARD class here as it is implicitly rare http://purl.obolibrary.org/obo/MONDO_0015900 node EFO_0000286 obsolete_biomaterial factor null http://www.ebi.ac.uk/efo/EFO_0000286 node EFO_0008143 obsolete_granulocyte-colony stimulating factor measurement null http://www.ebi.ac.uk/efo/EFO_0008143 node GO_1902518 response to cyclophosphamide null http://purl.obolibrary.org/obo/GO_1902518 node EFO_0000099 obsolete_BY4741 null http://www.ebi.ac.uk/efo/EFO_0000099 node EFO_0006984 An-1 null http://www.ebi.ac.uk/efo/EFO_0006984 node CHEBI_78208 azelaate(2-) null http://purl.obolibrary.org/obo/CHEBI_78208 node EFO_0010091 tea consumption measurement null http://www.ebi.ac.uk/efo/EFO_0010091 node MONDO_0021179 proteostasis deficiencies null http://purl.obolibrary.org/obo/MONDO_0021179 node OBI_0400108 heating block null http://purl.obolibrary.org/obo/OBI_0400108 node Orphanet_1727 22q11.2 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_1727 node EFO_1001055 myxedema Editor note: myxedema can also refer to a dermatological change that can occur in hypothyroidism and some forms of hyperthyroidism. http://www.ebi.ac.uk/efo/EFO_1001055 node CL_0000127 astrocyte Astrocytes are reportedly CD68-negative, CD121a-positive, CD184-positive, CD192-positive, CRF-positive, EGFR-positive, GFAP-positive, GLUT1-positive, MBP-negative, and NGFR-positive. http://purl.obolibrary.org/obo/CL_0000127 node EFO_0004077 CB205 null http://www.ebi.ac.uk/efo/EFO_0004077 node EFO_0000187 Kaposi's sarcoma cell null http://www.ebi.ac.uk/efo/EFO_0000187 node Orphanet_206564 Autosomal recessive limb-girdle muscular dystrophy type 2O null http://www.orpha.net/ORDO/Orphanet_206564 node CL_0000829 basophilic myeloblast null http://purl.obolibrary.org/obo/CL_0000829 node UBERON_0000989 penis null http://purl.obolibrary.org/obo/UBERON_0000989 node UBERON_0005562 thymus primordium null http://purl.obolibrary.org/obo/UBERON_0005562 node Orphanet_262725 Partial trisomy/tetrasomy of the short arm of chromosome 5 null http://www.orpha.net/ORDO/Orphanet_262725 node MONDO_0016179 acquired amyloid peripheral neuropathy null http://purl.obolibrary.org/obo/MONDO_0016179 node Orphanet_329466 Autosomal dominant focal dystonia, DYT25 null http://www.orpha.net/ORDO/Orphanet_329466 node MONDO_0037737 peritoneal solitary fibrous tumor null http://purl.obolibrary.org/obo/MONDO_0037737 node Orphanet_166100 Stickler syndrome type 3 null http://www.orpha.net/ORDO/Orphanet_166100 node NCBITaxon_36080 Mucor circinelloides null http://purl.obolibrary.org/obo/NCBITaxon_36080 node EFO_0004002 coisogenic strain null http://www.ebi.ac.uk/efo/EFO_0004002 node EFO_0002865 TC71 null http://www.ebi.ac.uk/efo/EFO_0002865 node EFO_0007312 HIV wasting syndrome null http://www.ebi.ac.uk/efo/EFO_0007312 node CLO_0021565 AG11498 null http://purl.obolibrary.org/obo/CLO_0021565 node CL_0000917 Tc1 cell This cell type is compatible with the HIPC Lyoplate markers for 'Tc1 CD8+ T cell', but its logical definition includes additional known characteristics of Tc1 T cells. http://purl.obolibrary.org/obo/CL_0000917 node HP_0000545 Myopia null http://purl.obolibrary.org/obo/HP_0000545 node EFO_0005709 HTR8/SVneo null http://www.ebi.ac.uk/efo/EFO_0005709 node Orphanet_101150 Autosomal recessive dopa-responsive dystonia null http://www.orpha.net/ORDO/Orphanet_101150 node EFO_0009482 drug allergy null http://www.ebi.ac.uk/efo/EFO_0009482 node EFO_0005150 Col-2 null http://www.ebi.ac.uk/efo/EFO_0005150 node CL_0002201 renal beta-intercalated cell null http://purl.obolibrary.org/obo/CL_0002201 node HP_0003474 Sensory impairment This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia. http://purl.obolibrary.org/obo/HP_0003474 node MONDO_0002259 gonadal disease null http://purl.obolibrary.org/obo/MONDO_0002259 node PO_0025280 microgametophyte The microgametophyte in bryophytes only produce sperm cells, but do not develop from microspores, because there is no heterospory in bryophytes. In seed plants the male gametophyte is reduced to a pollen grain. http://purl.obolibrary.org/obo/PO_0025280 node Orphanet_2162 Holoprosencephaly null http://www.orpha.net/ORDO/Orphanet_2162 node CHEBI_3015 benomyl null http://purl.obolibrary.org/obo/CHEBI_3015 node EFO_0003880 appendiceal neoplasm null http://www.ebi.ac.uk/efo/EFO_0003880 node Orphanet_90776 46,XX disorder of sex development induced by fetal androgens excess null http://www.orpha.net/ORDO/Orphanet_90776 node Orphanet_202948 Syndromic microphthalmia null http://www.orpha.net/ORDO/Orphanet_202948 node CHEBI_15372 5,6,7,8-tetrahydrobiopterin null http://purl.obolibrary.org/obo/CHEBI_15372 node EFO_0006669 NCI-H2023 null http://www.ebi.ac.uk/efo/EFO_0006669 node EFO_0003693 obsolete_superficial blastomere null http://www.ebi.ac.uk/efo/EFO_0003693 node EFO_0002766 proteomic profiling by mass spectrometer null http://www.ebi.ac.uk/efo/EFO_0002766 node HP_0001560 Abnormality of the amniotic fluid null http://purl.obolibrary.org/obo/HP_0001560 node EFO_0009570 tympanic membrane disease null http://www.ebi.ac.uk/efo/EFO_0009570 node CHEBI_47381 diclofenac null http://purl.obolibrary.org/obo/CHEBI_47381 node CHEBI_1367 3,3',4,4'-tetrachlorobiphenyl null http://purl.obolibrary.org/obo/CHEBI_1367 node MONDO_0020699 biotin metabolic disease null http://purl.obolibrary.org/obo/MONDO_0020699 node Orphanet_101940 Rare metabolic liver disease null http://www.orpha.net/ORDO/Orphanet_101940 node EFO_0008703 CytoSeq null http://www.ebi.ac.uk/efo/EFO_0008703 node EFO_0003781 carotid artery disease null http://www.ebi.ac.uk/efo/EFO_0003781 node EFO_0001212 MDAMB415 null http://www.ebi.ac.uk/efo/EFO_0001212 node EFO_0001035 obsolete_female inflorescence null http://www.ebi.ac.uk/efo/EFO_0001035 node EFO_0009079 white-sutton syndrome null http://www.ebi.ac.uk/efo/EFO_0009079 node CL_0001009 immature dermal dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000022)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001009 node EFO_0003382 obsolete_somatic muscle primordium null http://www.ebi.ac.uk/efo/EFO_0003382 node EFO_1000841 blue nevus null http://www.ebi.ac.uk/efo/EFO_1000841 node MONDO_0002175 degeneration of macula and posterior pole null http://purl.obolibrary.org/obo/MONDO_0002175 node GO_0044062 regulation of excretion null http://purl.obolibrary.org/obo/GO_0044062 node EFO_0009740 clinician null http://www.ebi.ac.uk/efo/EFO_0009740 node Orphanet_294994 Split foot null http://www.orpha.net/ORDO/Orphanet_294994 node MONDO_0002012 methylmalonic acidemia null http://purl.obolibrary.org/obo/MONDO_0002012 node NCBITaxon_59729 Taeniopygia guttata null http://purl.obolibrary.org/obo/NCBITaxon_59729 node Orphanet_93575 Atypical hemolytic-uremic syndrome with C3 anomaly null http://www.orpha.net/ORDO/Orphanet_93575 node MONDO_0001014 chronic leukemia null http://purl.obolibrary.org/obo/MONDO_0001014 node EFO_0001300 obsolete_juvenile stage null http://www.ebi.ac.uk/efo/EFO_0001300 node EFO_0001123 GM11882 null http://www.ebi.ac.uk/efo/EFO_0001123 node EFO_0009167 response to warfarin null http://www.ebi.ac.uk/efo/EFO_0009167 node EFO_0003470 obsolete_pancreatic bud null http://www.ebi.ac.uk/efo/EFO_0003470 node Orphanet_93217 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis null http://www.orpha.net/ORDO/Orphanet_93217 node CL_0000882 thymic medullary macrophage null http://purl.obolibrary.org/obo/CL_0000882 node MONDO_0004458 bladder mixed adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0004458 node CHEBI_74965 1-stearoyl-2-arachidonoyl-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_74965 node MONDO_0002100 cardiovascular cancer null http://purl.obolibrary.org/obo/MONDO_0002100 node Orphanet_171430 Severe congenital nemaline myopathy null http://www.orpha.net/ORDO/Orphanet_171430 node EFO_0009641 malaise null http://www.ebi.ac.uk/efo/EFO_0009641 node Orphanet_100974 FRAXF syndrome null http://www.orpha.net/ORDO/Orphanet_100974 node NCBITaxon_527021 Bacillus thuringiensis Bt407 null http://purl.obolibrary.org/obo/NCBITaxon_527021 node Orphanet_2516 Microcephaly - cardiac defect - lung malsegmentation null http://www.orpha.net/ORDO/Orphanet_2516 node NCBITaxon_12211 Plum pox virus null http://purl.obolibrary.org/obo/NCBITaxon_12211 node Orphanet_139512 Neuropathy with hearing impairment null http://www.orpha.net/ORDO/Orphanet_139512 node CL_0000999 CD4-positive CD11b-positive dendritic cell Defined as having a disposition to secreting anti-inflammatory cytokines. These markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000012)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0000999 node HP_0030160 Cervicitis Cervicitis, which most commonly presents as vaginal discharge or postcoital bleeding, can be acute or chronic, with an infectious or noninfectious etiology. http://purl.obolibrary.org/obo/HP_0030160 node CHEBI_15866 2-deoxy-D-glucose null http://purl.obolibrary.org/obo/CHEBI_15866 node EFO_0002589 hepatic schizont null http://www.ebi.ac.uk/efo/EFO_0002589 node Orphanet_207110 Qualitative or quantitative defects of myotubularin null http://www.orpha.net/ORDO/Orphanet_207110 node HP_0000269 Prominent occiput Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately. http://purl.obolibrary.org/obo/HP_0000269 node EFO_0004149 neuropathy null http://www.ebi.ac.uk/efo/EFO_0004149 node UBERON_2001303 vagal ganglion 2 null http://purl.obolibrary.org/obo/UBERON_2001303 node CLO_0011234 GM08931 null http://purl.obolibrary.org/obo/CLO_0011234 node CHEBI_90242 caffeic acid 3-sulfate null http://purl.obolibrary.org/obo/CHEBI_90242 node CHEBI_91065 sphingomyelin 16:0 null http://purl.obolibrary.org/obo/CHEBI_91065 node Orphanet_363454 Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures null http://www.orpha.net/ORDO/Orphanet_363454 node EFO_0000844 obsolete_transverse colon null http://www.ebi.ac.uk/efo/EFO_0000844 node EFO_0010224 lysophosphatidylcholine measurement null http://www.ebi.ac.uk/efo/EFO_0010224 node MONDO_0020947 parasitic eye infection null http://purl.obolibrary.org/obo/MONDO_0020947 node GO_0034097 response to cytokine null http://purl.obolibrary.org/obo/GO_0034097 node Orphanet_2604 Familial visceral myopathy null http://www.orpha.net/ORDO/Orphanet_2604 node Orphanet_903 Von Willebrand disease null http://www.orpha.net/ORDO/Orphanet_903 node Orphanet_166286 Porokeratotic eccrine ostial and dermal duct nevus null http://www.orpha.net/ORDO/Orphanet_166286 node EFO_0010518 oxide measurement null http://www.ebi.ac.uk/efo/EFO_0010518 node CHEBI_88758 CE(14:1(9Z)) null http://purl.obolibrary.org/obo/CHEBI_88758 node CLO_0015097 GM17138 null http://purl.obolibrary.org/obo/CLO_0015097 node Orphanet_716 Phenylketonuria null http://www.orpha.net/ORDO/Orphanet_716 node EFO_0005820 mbn2 null http://www.ebi.ac.uk/efo/EFO_0005820 node CHEBI_73705 gamma-Glu-Glu null http://purl.obolibrary.org/obo/CHEBI_73705 node CLO_0013199 GM17276 null http://purl.obolibrary.org/obo/CLO_0013199 node EFO_0000451 obsolete_embryonic dorsal apodeme null http://www.ebi.ac.uk/efo/EFO_0000451 node CHEBI_36459 homocitrate (-1) null http://purl.obolibrary.org/obo/CHEBI_36459 node EFO_1001132 pseudotumor cerebri null http://www.ebi.ac.uk/efo/EFO_1001132 node UBERON_0001088 urine null http://purl.obolibrary.org/obo/UBERON_0001088 node EFO_0005562 hydronephrosis null http://www.ebi.ac.uk/efo/EFO_0005562 node EFO_0004635 leptin receptor measurement null http://www.ebi.ac.uk/efo/EFO_0004635 node EFO_0010312 lateral orbital frontal cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010312 node EFO_1000028 ependymoma null http://www.ebi.ac.uk/efo/EFO_1000028 node MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder null http://purl.obolibrary.org/obo/MONDO_0017016 node EFO_0004458 C-reactive protein measurement is about MSH:D002097 http://www.ebi.ac.uk/efo/EFO_0004458 node CLO_0014948 GM17112 null http://purl.obolibrary.org/obo/CLO_0014948 node EFO_0010125 viral load null http://www.ebi.ac.uk/efo/EFO_0010125 node HP_0002315 Headache Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. http://purl.obolibrary.org/obo/HP_0002315 node EFO_0010606 sclerostin measurement null http://www.ebi.ac.uk/efo/EFO_0010606 node CL_0000023 oocyte null http://purl.obolibrary.org/obo/CL_0000023 node Orphanet_54 X-linked recessive ocular albinism null http://www.orpha.net/ORDO/Orphanet_54 node CLO_0016508 GM17814 null http://purl.obolibrary.org/obo/CLO_0016508 node MONDO_0041161 endometrial hyperplasia Editor note: cede to HPO http://purl.obolibrary.org/obo/MONDO_0041161 node CHEBI_17160 17alpha-estradiol null http://purl.obolibrary.org/obo/CHEBI_17160 node UBERON_0003122 pharyngeal arch artery 5 null http://purl.obolibrary.org/obo/UBERON_0003122 node EFO_1001220 trochlear nerve disease null http://www.ebi.ac.uk/efo/EFO_1001220 node ZFA_0000678 hair cell anterior macula null http://purl.obolibrary.org/obo/ZFA_0000678 node EFO_0005087 Illumina MiSeq standard manufacturer's protocol null http://www.ebi.ac.uk/efo/EFO_0005087 node EFO_0005650 CME-L1 null http://www.ebi.ac.uk/efo/EFO_0005650 node EFO_0004723 coronary artery calcification null http://www.ebi.ac.uk/efo/EFO_0004723 node EFO_1000116 Benign Ovarian Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000116 node CHEBI_70979 N-isobutyrylglycine null http://purl.obolibrary.org/obo/CHEBI_70979 node CHEBI_82966 gamma-glutamylphenylalanine null http://purl.obolibrary.org/obo/CHEBI_82966 node Orphanet_183487 Genetic skin tumor null http://www.orpha.net/ORDO/Orphanet_183487 node EFO_0010093 bitter non-alcoholic beverage consumption measurement null http://www.ebi.ac.uk/efo/EFO_0010093 node NCBITaxon_228410 Nitrosomonas europaea ATCC 19718 null http://purl.obolibrary.org/obo/NCBITaxon_228410 node EFO_0007392 nervous system cancer null http://www.ebi.ac.uk/efo/EFO_0007392 node CL_0000111 peripheral neuron null http://purl.obolibrary.org/obo/CL_0000111 node CHEBI_4911 etoposide null http://purl.obolibrary.org/obo/CHEBI_4911 node Orphanet_295122 Split hand, bilateral null http://www.orpha.net/ORDO/Orphanet_295122 node CHEBI_46548 zardaverine null http://purl.obolibrary.org/obo/CHEBI_46548 node Orphanet_295057 Amelia of lower limb, unilateral null http://www.orpha.net/ORDO/Orphanet_295057 node Orphanet_314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia null http://www.orpha.net/ORDO/Orphanet_314662 node PO_0007006 IL.00 inflorescence just visible stage null http://purl.obolibrary.org/obo/PO_0007006 node CHEBI_86612 dihydroferulic acid null http://purl.obolibrary.org/obo/CHEBI_86612 node UBERON_0036295 renal pelvis/ureter null http://purl.obolibrary.org/obo/UBERON_0036295 node EFO_0006712 OCI-M1 null http://www.ebi.ac.uk/efo/EFO_0006712 node Orphanet_206707 Bulbospinal muscular atrophy of adult null http://www.orpha.net/ORDO/Orphanet_206707 node EFO_0006525 cigarettes per day measurement null http://www.ebi.ac.uk/efo/EFO_0006525 node Orphanet_199343 EAST syndrome null http://www.orpha.net/ORDO/Orphanet_199343 node EFO_0006348 pulmonary artery-aorta diameter ratio measurement null http://www.ebi.ac.uk/efo/EFO_0006348 node EFO_0000048 CS57637 null http://www.ebi.ac.uk/efo/EFO_0000048 node MONDO_0021444 benign neoplasm of large intestine null http://purl.obolibrary.org/obo/MONDO_0021444 node EFO_0006933 pallidum volume null http://www.ebi.ac.uk/efo/EFO_0006933 node Orphanet_399185 Rare hereditary disease with avascular necrosis null http://www.orpha.net/ORDO/Orphanet_399185 node Orphanet_2598 Mitochondrial myopathy and sideroblastic anemia null http://www.orpha.net/ORDO/Orphanet_2598 node MONDO_0018330 mucinous adenocarcinoma of the appendix null http://purl.obolibrary.org/obo/MONDO_0018330 node Orphanet_98643 Systemic disease with cataract null http://www.orpha.net/ORDO/Orphanet_98643 node Orphanet_250923 Isolated aniridia null http://www.orpha.net/ORDO/Orphanet_250923 node Orphanet_98456 Dense granule disease null http://www.orpha.net/ORDO/Orphanet_98456 node Orphanet_94124 Spinocerebellar ataxia type 1 with axonal neuropathy null http://www.orpha.net/ORDO/Orphanet_94124 node MONDO_0000478 multifocal dystonia null http://purl.obolibrary.org/obo/MONDO_0000478 node EFO_0007562 diploid homozygous deletion library null http://www.ebi.ac.uk/efo/EFO_0007562 node EFO_0006613 KMS-12-PE null http://www.ebi.ac.uk/efo/EFO_0006613 node EFO_1001507 asparaginase-induced acute pancreatitis null http://www.ebi.ac.uk/efo/EFO_1001507 node EFO_0006436 HCC4011 null http://www.ebi.ac.uk/efo/EFO_0006436 node EFO_0000136 CS57828 null http://www.ebi.ac.uk/efo/EFO_0000136 node CL_2000018 endothelial cell of coronary artery null http://purl.obolibrary.org/obo/CL_2000018 node MONDO_0007576 esophageal cancer null http://purl.obolibrary.org/obo/MONDO_0007576 node EFO_0005247 anti-Helicobacter pylori serum IgG measurement null http://www.ebi.ac.uk/efo/EFO_0005247 node Orphanet_2686 Cyclic neutropenia null http://www.orpha.net/ORDO/Orphanet_2686 node EFO_0008557 Methicillin-Susceptible Staphylococcus Aureus Infection null http://www.ebi.ac.uk/efo/EFO_0008557 node EFO_0001292 gastrula 75%-epiboly null http://www.ebi.ac.uk/efo/EFO_0001292 node Orphanet_798 Schinzel-Giedion syndrome null http://www.orpha.net/ORDO/Orphanet_798 node NCBITaxon_1590 Lactobacillus plantarum null http://purl.obolibrary.org/obo/NCBITaxon_1590 node EFO_0007650 soluble interleukin-2 receptor subunit alpha measurement null http://www.ebi.ac.uk/efo/EFO_0007650 node Orphanet_251043 Ring chromosome 5 null http://www.orpha.net/ORDO/Orphanet_251043 node Orphanet_3246 Symphalangism with multiple anomalies of hands and feet null http://www.orpha.net/ORDO/Orphanet_3246 node HP_0004743 Chronic tubulointerstitial nephritis null http://purl.obolibrary.org/obo/HP_0004743 node EFO_0008390 prothrombin time measurement null http://www.ebi.ac.uk/efo/EFO_0008390 node EFO_0007463 renal tuberculosis null http://www.ebi.ac.uk/efo/EFO_0007463 node CL_0002475 lymphoid MHC-II-negative non-classical monocyte null http://purl.obolibrary.org/obo/CL_0002475 node HP_0001176 Large hands null http://purl.obolibrary.org/obo/HP_0001176 node Orphanet_329228 Microcephalic primordial dwarfism due to ZNF335 deficiency null http://www.orpha.net/ORDO/Orphanet_329228 node NCBITaxon_94289 Sterkiella histriomuscorum null http://purl.obolibrary.org/obo/NCBITaxon_94289 node Orphanet_3059 X-linked intellectual disability, Gu type null http://www.orpha.net/ORDO/Orphanet_3059 node EFO_1000695 erythematosquamous dermatosis null http://www.ebi.ac.uk/efo/EFO_1000695 node EFO_0010792 oncostatin-M measurement null http://www.ebi.ac.uk/efo/EFO_0010792 node MONDO_0030042 proteinuria, chronic benign null http://purl.obolibrary.org/obo/MONDO_0030042 node CHEBI_63038 ammonium nitrate null http://purl.obolibrary.org/obo/CHEBI_63038 node HP_0002907 Microscopic hematuria null http://purl.obolibrary.org/obo/HP_0002907 node EFO_0001380 hypopituitarism null http://www.ebi.ac.uk/efo/EFO_0001380 node Orphanet_886 Usher syndrome null http://www.orpha.net/ORDO/Orphanet_886 node Orphanet_905 Wilson disease null http://www.orpha.net/ORDO/Orphanet_905 node EFO_0009431 intestinal disease null http://www.ebi.ac.uk/efo/EFO_0009431 node Orphanet_64734 Iridocorneal endothelial syndrome null http://www.orpha.net/ORDO/Orphanet_64734 node Orphanet_215 Congenital stationary night blindness null http://www.orpha.net/ORDO/Orphanet_215 node Orphanet_1974 Autosomal recessive facio-digito-genital syndrome null http://www.orpha.net/ORDO/Orphanet_1974 node EFO_0008329 facial emotion recognition measurement null http://www.ebi.ac.uk/efo/EFO_0008329 node EFO_0009244 Neutrophilic Metamyelocyte Count null http://www.ebi.ac.uk/efo/EFO_0009244 node CLO_0013796 GM17192 null http://purl.obolibrary.org/obo/CLO_0013796 node NCBITaxon_205922 Pseudomonas fluorescens Pf0-1 null http://purl.obolibrary.org/obo/NCBITaxon_205922 node Orphanet_2324 Kaler-Garrity-Stern syndrome null http://www.orpha.net/ORDO/Orphanet_2324 node HP_0008115 Clinodactyly of the 3rd toe null http://purl.obolibrary.org/obo/HP_0008115 node EFO_1000620 Vaginal Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000620 node EFO_1000596 Tibial Adamantinoma null http://www.ebi.ac.uk/efo/EFO_1000596 node EFO_0010880 HG03439 null http://www.ebi.ac.uk/efo/EFO_0010880 node EFO_0010675 chronic venous hypertension null http://www.ebi.ac.uk/efo/EFO_0010675 node EFO_0003642 obsolete_anal fin null http://www.ebi.ac.uk/efo/EFO_0003642 node EFO_0009948 chorioamnionitis null http://www.ebi.ac.uk/efo/EFO_0009948 node EFO_0005365 CCD-29Lu null http://www.ebi.ac.uk/efo/EFO_0005365 node MONDO_0016632 thrombotic disorder due to a coagulation factors defect null http://purl.obolibrary.org/obo/MONDO_0016632 node MONDO_0001476 coloboma null http://purl.obolibrary.org/obo/MONDO_0001476 node EFO_1000433 Ovarian Steroid Cell Tumor null http://www.ebi.ac.uk/efo/EFO_1000433 node HP_0002808 Kyphosis null http://purl.obolibrary.org/obo/HP_0002808 node Orphanet_303 Dystrophic epidermolysis bullosa null http://www.orpha.net/ORDO/Orphanet_303 node MONDO_0014611 multiple mitochondrial dysfunctions syndrome 4 null http://purl.obolibrary.org/obo/MONDO_0014611 node EFO_0009332 executive function measurement null http://www.ebi.ac.uk/efo/EFO_0009332 node MONDO_0003199 anal carcinoma null http://purl.obolibrary.org/obo/MONDO_0003199 node NCBITaxon_8017 Oncorhynchus gorbuscha null http://purl.obolibrary.org/obo/NCBITaxon_8017 node EFO_0005178 San Eleno ecotype null http://www.ebi.ac.uk/efo/EFO_0005178 node NCBITaxon_11060 Dengue virus 2 null http://purl.obolibrary.org/obo/NCBITaxon_11060 node EFO_0003384 obsolete_ventral epidermis primordium null http://www.ebi.ac.uk/efo/EFO_0003384 node CLO_0013884 GM17208 null http://purl.obolibrary.org/obo/CLO_0013884 node Orphanet_126 Blepharophimosis - epicanthus inversus - ptosis null http://www.orpha.net/ORDO/Orphanet_126 node EFO_0007407 oral tuberculosis null http://www.ebi.ac.uk/efo/EFO_0007407 node Orphanet_2412 Dislocation of the hip - dysmorphism null http://www.orpha.net/ORDO/Orphanet_2412 node EFO_0009742 computational scientist null http://www.ebi.ac.uk/efo/EFO_0009742 node EFO_0003730 obsolete_lung (Gallus gallus) null http://www.ebi.ac.uk/efo/EFO_0003730 node EFO_1000040 metaplastic breast carcinoma PMID:22080057 http://www.ebi.ac.uk/efo/EFO_1000040 node NCBITaxon_405531 Bacillus cereus G9842 null http://purl.obolibrary.org/obo/NCBITaxon_405531 node EFO_1000521 Sarcomatoid Mesothelioma null http://www.ebi.ac.uk/efo/EFO_1000521 node EFO_0009859 reflective stress response null http://www.ebi.ac.uk/efo/EFO_0009859 node Orphanet_397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome null http://www.orpha.net/ORDO/Orphanet_397973 node HP_0001410 Decreased liver function null http://purl.obolibrary.org/obo/HP_0001410 node MONDO_0016030 Evans syndrome null http://purl.obolibrary.org/obo/MONDO_0016030 node EFO_0005266 serum selenium measurement null http://www.ebi.ac.uk/efo/EFO_0005266 node EFO_1000368 Medullomyoblastoma with Myogenic Differentiation null http://www.ebi.ac.uk/efo/EFO_1000368 node EFO_0009169 response to deoxygalactonojirimycin null http://www.ebi.ac.uk/efo/EFO_0009169 node EFO_0003472 obsolete_caudal artery null http://www.ebi.ac.uk/efo/EFO_0003472 node NCBITaxon_4536 Oryza nivara null http://purl.obolibrary.org/obo/NCBITaxon_4536 node Orphanet_183460 Genetic sebaceous gland anomaly null http://www.orpha.net/ORDO/Orphanet_183460 node EFO_0002368 SW620 null http://www.ebi.ac.uk/efo/EFO_0002368 node Orphanet_68335 Chromosomal anomaly null http://www.orpha.net/ORDO/Orphanet_68335 node MONDO_0021152 inherited null http://purl.obolibrary.org/obo/MONDO_0021152 node Orphanet_612 Potassium-aggravated myotonia null http://www.orpha.net/ORDO/Orphanet_612 node Orphanet_407 Glycine encephalopathy null http://www.orpha.net/ORDO/Orphanet_407 node EFO_0009643 pregnancy test null http://www.ebi.ac.uk/efo/EFO_0009643 node Orphanet_2066 Gamma-aminobutyric acid transaminase deficiency null http://www.orpha.net/ORDO/Orphanet_2066 node NCBITaxon_84588 Synechococcus sp. WH 8102 null http://purl.obolibrary.org/obo/NCBITaxon_84588 node UBERON_0001032 sensory system null http://purl.obolibrary.org/obo/UBERON_0001032 node MONDO_0018880 rare teratologic disease null http://purl.obolibrary.org/obo/MONDO_0018880 node CL_0000909 CD8-positive, alpha-beta memory T cell null http://purl.obolibrary.org/obo/CL_0000909 node EFO_1001781 Commotio Cordis null http://www.ebi.ac.uk/efo/EFO_1001781 node Orphanet_308473 Erythrocyte galactose epimerase deficiency null http://www.orpha.net/ORDO/Orphanet_308473 node OBI_0001140 spike-in quality control role null http://purl.obolibrary.org/obo/OBI_0001140 node OBI_0001621 longitude null http://purl.obolibrary.org/obo/OBI_0001621 node MONDO_0021944 auditory neuropathy Editor note: OMIMPS seems to refer to a more restricted concept http://purl.obolibrary.org/obo/MONDO_0021944 node HP_0012278 Abnormal circulating serine concentration null http://purl.obolibrary.org/obo/HP_0012278 node MONDO_0021300 adenoid cystic carcinoma of oropharynx null http://purl.obolibrary.org/obo/MONDO_0021300 node HP_0000218 High palate The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and applied inaccurately. http://purl.obolibrary.org/obo/HP_0000218 node MONDO_0000490 glomerulosclerosis null http://purl.obolibrary.org/obo/MONDO_0000490 node EFO_0000811 fat body sensu amphibia null http://www.ebi.ac.uk/efo/EFO_0000811 node EFO_0000606 C57BL/6J null http://www.ebi.ac.uk/efo/EFO_0000606 node EFO_0004021 transposition null http://www.ebi.ac.uk/efo/EFO_0004021 node EFO_0004319 smoking cessation null http://www.ebi.ac.uk/efo/EFO_0004319 node EFO_0000429 obsolete_Duchenne muscular dystrophy null http://www.ebi.ac.uk/efo/EFO_0000429 node EFO_1001315 Enzootic Bovine Leukosis null http://www.ebi.ac.uk/efo/EFO_1001315 node UBERON_2005034 parachordal vessel null http://purl.obolibrary.org/obo/UBERON_2005034 node EFO_0005089 whole-brain volume null http://www.ebi.ac.uk/efo/EFO_0005089 node EFO_0000400 diabetes mellitus null http://www.ebi.ac.uk/efo/EFO_0000400 node Orphanet_306519 Familial primary hypomagnesemia with hypocalcuria null http://www.orpha.net/ORDO/Orphanet_306519 node EFO_0008897 RNAtag-Seq null http://www.ebi.ac.uk/efo/EFO_0008897 node EFO_0008916 scWGBS null http://www.ebi.ac.uk/efo/EFO_0008916 node EFO_0005511 post dauer stage null http://www.ebi.ac.uk/efo/EFO_0005511 node EFO_0000213 obsolete_abdominal cavity null http://www.ebi.ac.uk/efo/EFO_0000213 node Orphanet_59181 Sorsby's fundus dystrophy null http://www.orpha.net/ORDO/Orphanet_59181 node Orphanet_1115 Recessive aplasia cutis congenita of limbs null http://www.orpha.net/ORDO/Orphanet_1115 node EFO_0004407 Theiler stage 16 null http://www.ebi.ac.uk/efo/EFO_0004407 node NCBITaxon_89981 Saccharomyces bayanus x Saccharomyces cerevisiae null http://purl.obolibrary.org/obo/NCBITaxon_89981 node CHEBI_28119 2,3,7,8-tetrachlorodibenzodioxine null http://purl.obolibrary.org/obo/CHEBI_28119 node EFO_0007066 chronic ulcer of skin null http://www.ebi.ac.uk/efo/EFO_0007066 node Orphanet_79169 Disorder of neurotransmitter metabolism and transport null http://www.orpha.net/ORDO/Orphanet_79169 node Orphanet_85212 Fetal Gaucher disease null http://www.orpha.net/ORDO/Orphanet_85212 node EFO_0007957 urinary 1,3-butadiene measurement null http://www.ebi.ac.uk/efo/EFO_0007957 node HP_0011900 Hypofibrinogenemia null http://purl.obolibrary.org/obo/HP_0011900 node EFO_0000301 obsolete_bone marrow MMHCC Obsolete: No longer required in EFO http://www.ebi.ac.uk/efo/EFO_0000301 node CHEBI_24265 gluconate null http://purl.obolibrary.org/obo/CHEBI_24265 node EFO_0003877 sleep apnea null http://www.ebi.ac.uk/efo/EFO_0003877 node Orphanet_1203 Duodenal atresia null http://www.orpha.net/ORDO/Orphanet_1203 node CHEBI_44915 propofol null http://purl.obolibrary.org/obo/CHEBI_44915 node NCBITaxon_1281 Staphylococcus carnosus null http://purl.obolibrary.org/obo/NCBITaxon_1281 node MONDO_0024255 genetic skin disease null http://purl.obolibrary.org/obo/MONDO_0024255 node EFO_0005412 functional impairment measurement null http://www.ebi.ac.uk/efo/EFO_0005412 node Orphanet_98820 Familial focal epilepsy with variable foci null http://www.orpha.net/ORDO/Orphanet_98820 node Orphanet_254361 Autosomal recessive limb-girdle muscular dystrophy type 2Q null http://www.orpha.net/ORDO/Orphanet_254361 node MONDO_0045046 inherited thyroid metabolism disease null http://purl.obolibrary.org/obo/MONDO_0045046 node Orphanet_295006 Preaxial polydactyly of toes null http://www.orpha.net/ORDO/Orphanet_295006 node EFO_0008081 cGMP-specific 3',5'-cyclic phosphodiesterase measurement null http://www.ebi.ac.uk/efo/EFO_0008081 node EFO_0007154 ascariasis null http://www.ebi.ac.uk/efo/EFO_0007154 node Orphanet_317430 Combined immunodeficiency due to STIM1 deficiency null http://www.orpha.net/ORDO/Orphanet_317430 node Orphanet_273 Steinert myotonic dystrophy null http://www.orpha.net/ORDO/Orphanet_273 node EFO_0007564 siRNA library a collection of sets of cells in which a different siRNA has been used to knock down a target gene in each set? Example of usage - An siRNA library may be used to knockdown gene expression to study the function of that gene. http://www.ebi.ac.uk/efo/EFO_0007564 node UBERON_0006908 fast muscle tissue The fast and slow skeletal muscles are different in terms of twitching speed (Fitts 1994), and they are believed to be derived from distinct myogenic precursors (Stockdale 1992) http://purl.obolibrary.org/obo/UBERON_0006908 node Orphanet_2382 Lennox-Gastaut syndrome null http://www.orpha.net/ORDO/Orphanet_2382 node HP_0001822 Hallux valgus null http://purl.obolibrary.org/obo/HP_0001822 node EFO_0009832 cellular infiltration null http://www.ebi.ac.uk/efo/EFO_0009832 node Orphanet_2729 Okamoto syndrome null http://www.orpha.net/ORDO/Orphanet_2729 node NCBITaxon_299768 Streptococcus thermophilus CNRZ1066 null http://purl.obolibrary.org/obo/NCBITaxon_299768 node MONDO_0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 null http://purl.obolibrary.org/obo/MONDO_0024546 node EFO_0007242 Eastern equine encephalitis null http://www.ebi.ac.uk/efo/EFO_0007242 node MONDO_0014940 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset null http://purl.obolibrary.org/obo/MONDO_0014940 node EFO_0001294 gastrula bud null http://www.ebi.ac.uk/efo/EFO_0001294 node HP_0002970 Genu varum null http://purl.obolibrary.org/obo/HP_0002970 node EFO_0007652 health trait null http://www.ebi.ac.uk/efo/EFO_0007652 node Orphanet_361 Familial glucocorticoid deficiency null http://www.orpha.net/ORDO/Orphanet_361 node Orphanet_184 Cherubism null http://www.orpha.net/ORDO/Orphanet_184 node EFO_1000838 bile reflux null http://www.ebi.ac.uk/efo/EFO_1000838 node EFO_0007465 Respirovirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007465 node Orphanet_2470 Matthew-Wood syndrome null http://www.orpha.net/ORDO/Orphanet_2470 node Orphanet_98709 Ectodermal malformation syndrome associated with ocular features null http://www.orpha.net/ORDO/Orphanet_98709 node MONDO_0026730 Basilicata-Akhtar syndrome null http://purl.obolibrary.org/obo/MONDO_0026730 node NCBITaxon_196627 Corynebacterium glutamicum ATCC 13032 null http://purl.obolibrary.org/obo/NCBITaxon_196627 node EFO_0004578 homocysteine measurement null http://www.ebi.ac.uk/efo/EFO_0004578 node NCBITaxon_378830 Lake Victoria marburgvirus - Angola2005 null http://purl.obolibrary.org/obo/NCBITaxon_378830 node CHEBI_33699 messenger RNA null http://purl.obolibrary.org/obo/CHEBI_33699 node Orphanet_177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 null http://www.orpha.net/ORDO/Orphanet_177901 node NCBITaxon_570508 Helicobacter pylori P12 null http://purl.obolibrary.org/obo/NCBITaxon_570508 node EFO_0009433 lower respiratory tract disease null http://www.ebi.ac.uk/efo/EFO_0009433 node EFO_0009246 Neutrophils Band Form to Neutrophils Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009246 node EFO_1000926 Erdheim-Chester disease null http://www.ebi.ac.uk/efo/EFO_1000926 node NCBITaxon_6238 Caenorhabditis briggsae null http://purl.obolibrary.org/obo/NCBITaxon_6238 node MONDO_0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities null http://purl.obolibrary.org/obo/MONDO_0015003 node Orphanet_167762 Rare disease with dentinogenesis imperfecta null http://www.orpha.net/ORDO/Orphanet_167762 node EFO_0000482 event free survival time null http://www.ebi.ac.uk/efo/EFO_0000482 node NCBITaxon_1352 Enterococcus faecium null http://purl.obolibrary.org/obo/NCBITaxon_1352 node EFO_1001163 root caries null http://www.ebi.ac.uk/efo/EFO_1001163 node PO_0025142 leaf tip This term is to be used for only the apical most portion of a leaf. For a larger area, use the term leaf apex. Use this term when describing the shape of a leaf tip. If you are annotating to this term, please add an additional annotation to vascular leaf (PO:0009025) or non-vascular leaf (PO:0025075), depending on the species. All annotations for angiosperms, gymnosperms, and pteridophytes should go to vascular leaf and all annotations for bryophytes should go to non-vascular leaf. http://purl.obolibrary.org/obo/PO_0025142 node EFO_0004666 cellular modification design null http://www.ebi.ac.uk/efo/EFO_0004666 node EFO_0000295 obsolete_blastocyst null http://www.ebi.ac.uk/efo/EFO_0000295 node EFO_1000059 cervical artery dissection null http://www.ebi.ac.uk/efo/EFO_1000059 node HP_0003026 Short long bone Long bones are also known as tubular bones. http://purl.obolibrary.org/obo/HP_0003026 node Orphanet_1782 Dysosteosclerosis null http://www.orpha.net/ORDO/Orphanet_1782 node UBERON_0006222 future diencephalon null http://purl.obolibrary.org/obo/UBERON_0006222 node EFO_1001384 Panniculitis, Peritoneal null http://www.ebi.ac.uk/efo/EFO_1001384 node EFO_1001865 ventilator-associated pneumonia null http://www.ebi.ac.uk/efo/EFO_1001865 node EFO_0004887 maximal oxygen uptake measurement null http://www.ebi.ac.uk/efo/EFO_0004887 node EFO_0009334 prefrontal cortex growth measurement null http://www.ebi.ac.uk/efo/EFO_0009334 node NCBITaxon_8019 Oncorhynchus kisutch null http://purl.obolibrary.org/obo/NCBITaxon_8019 node EFO_0000997 storage organ null http://www.ebi.ac.uk/efo/EFO_0000997 node Orphanet_230857 Ehlers-Danlos/osteogenesis imperfecta syndrome null http://www.orpha.net/ORDO/Orphanet_230857 node Orphanet_295114 Congenital absence/hypoplasia of fingers excluding thumb, bilateral null http://www.orpha.net/ORDO/Orphanet_295114 node EFO_0010483 gentisic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010483 node EFO_0000383 obsolete_cortex null http://www.ebi.ac.uk/efo/EFO_0000383 node Orphanet_217619 Syndrome associated with dilated cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_217619 node EFO_1001064 non-gestational choriocarcinoma null http://www.ebi.ac.uk/efo/EFO_1001064 node HP_0007446 Palmoplantar blistering null http://purl.obolibrary.org/obo/HP_0007446 node MONDO_0006412 sinus histiocytosis with massive lymphadenopathy null http://purl.obolibrary.org/obo/MONDO_0006412 node EFO_0009140 metastatic pancreatic neuroendocrine tumours null http://www.ebi.ac.uk/efo/EFO_0009140 node MONDO_0037792 carbohydrate metabolism disease null http://purl.obolibrary.org/obo/MONDO_0037792 node EFO_1001472 Myelitis null http://www.ebi.ac.uk/efo/EFO_1001472 node UBERON_0005097 renal connecting tubule null http://purl.obolibrary.org/obo/UBERON_0005097 node UBERON_0002376 cranial muscle defined generically so could in theory encompass FBbt:00003260 'skeletal muscle of head', or the muscle of a starfish Aristotle's lantern, but we restrict this to craniates. Skeletal muscles of the head originate from the non-segmented head mesoderm (Noden, 1983; Wachtler et al., 1984) http://purl.obolibrary.org/obo/UBERON_0002376 node Orphanet_210128 Urocanic aciduria null http://www.orpha.net/ORDO/Orphanet_210128 node EFO_0006738 plasmacytoma alternative definition: A type of cancer that begins in plasma cells (white blood cells that produce antibodies). A plasmacytoma may turn into multiple myeloma. http://www.ebi.ac.uk/efo/EFO_0006738 node HP_0002655 Spondyloepiphyseal dysplasia null http://purl.obolibrary.org/obo/HP_0002655 node EFO_0003333 Drosophila developmental tissue null http://www.ebi.ac.uk/efo/EFO_0003333 node FBbt_00001768 eye disc Figure 12 from Cohen (1993, Bate, Martinez Arias, 1993: 747--841) provides a fate map of the eye-antennal disc. http://purl.obolibrary.org/obo/FBbt_00001768 node MONDO_0001989 atrophic glossitis null http://purl.obolibrary.org/obo/MONDO_0001989 node Orphanet_181402 Syndrome with hypoparathyroidism null http://www.orpha.net/ORDO/Orphanet_181402 node CL_0000972 class switched memory B cell Per DSD: Class switched memory B cells are also reportedly CD48-positive, CD229-positive, and CD352-positive. http://purl.obolibrary.org/obo/CL_0000972 node NCBITaxon_559292 Saccharomyces cerevisiae S288C null http://purl.obolibrary.org/obo/NCBITaxon_559292 node EFO_0002229 MCCAR null http://www.ebi.ac.uk/efo/EFO_0002229 node EFO_0009023 Bardet-Biedl syndrome 12 null http://www.ebi.ac.uk/efo/EFO_0009023 node MONDO_0060733 humerofemoral hypoplasia with radiotibial ray deficiency null http://purl.obolibrary.org/obo/MONDO_0060733 node Orphanet_165805 Familial mesial temporal lobe epilepsy with febrile seizures null http://www.orpha.net/ORDO/Orphanet_165805 node Orphanet_261559 Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion null http://www.orpha.net/ORDO/Orphanet_261559 node Orphanet_83648 X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction null http://www.orpha.net/ORDO/Orphanet_83648 node MONDO_0044303 congenital heart defects and ectodermal dysplasia null http://purl.obolibrary.org/obo/MONDO_0044303 node EFO_0005905 obsolete_Oci-Ly-7 null http://www.ebi.ac.uk/efo/EFO_0005905 node UBERON_0003306 floor plate of neural tube null http://purl.obolibrary.org/obo/UBERON_0003306 node HP_0012443 Abnormality of brain morphology null http://purl.obolibrary.org/obo/HP_0012443 node Orphanet_295008 Postaxial polydactyly of toes null http://www.orpha.net/ORDO/Orphanet_295008 node EFO_0007753 seasonal gut microbiome measurement null http://www.ebi.ac.uk/efo/EFO_0007753 node EFO_0006826 trans/trans-18:2 fatty acid measurement null http://www.ebi.ac.uk/efo/EFO_0006826 node EFO_0003421 obsolete_presumptive segmental plate null http://www.ebi.ac.uk/efo/EFO_0003421 node Orphanet_2571 X-linked immunoneurologic disorder null http://www.orpha.net/ORDO/Orphanet_2571 node EFO_0002317 REC1 null http://www.ebi.ac.uk/efo/EFO_0002317 node EFO_0004183 size fractionation null http://www.ebi.ac.uk/efo/EFO_0004183 node EFO_0003234 follicle stimulating hormone null http://www.ebi.ac.uk/efo/EFO_0003234 node MONDO_0027407 Kleefstra syndrome 1 null http://purl.obolibrary.org/obo/MONDO_0027407 node EFO_0003057 obsolete_mediastinum null http://www.ebi.ac.uk/efo/EFO_0003057 node Orphanet_2899 Brachyolmia-amelogenesis imperfecta syndrome null http://www.orpha.net/ORDO/Orphanet_2899 node CL_0002360 AGM hematopoietic stem cell null http://purl.obolibrary.org/obo/CL_0002360 node EFO_0007841 facial morphology measurement null http://www.ebi.ac.uk/efo/EFO_0007841 node EFO_0006709 OCI-LY19 null http://www.ebi.ac.uk/efo/EFO_0006709 node OBI_0000711 library preparation null http://purl.obolibrary.org/obo/OBI_0000711 node Orphanet_231169 Usher syndrome type 1 null http://www.orpha.net/ORDO/Orphanet_231169 node EFO_0010377 phosphatidylcholine 34:3 measurement null http://www.ebi.ac.uk/efo/EFO_0010377 node HP_0030402 Abnormal platelet aggregation null http://purl.obolibrary.org/obo/HP_0030402 node EFO_0007654 clinical and behavioural ideal cardiovascular health null http://www.ebi.ac.uk/efo/EFO_0007654 node EFO_0010858 HG02973 null http://www.ebi.ac.uk/efo/EFO_0010858 node NCBITaxon_85681 Citrus clementina null http://purl.obolibrary.org/obo/NCBITaxon_85681 node Orphanet_98973 Posterior polymorphous corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98973 node MONDO_0002764 urethra squamous cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0002764 node MONDO_0019386 progressive rubella panencephalitis null http://purl.obolibrary.org/obo/MONDO_0019386 node MONDO_0021002 syndactyly (disease) null http://purl.obolibrary.org/obo/MONDO_0021002 node MONDO_0001285 endometriosis of pelvic peritoneum null http://purl.obolibrary.org/obo/MONDO_0001285 node MONDO_0000839 congenital abnormality null http://purl.obolibrary.org/obo/MONDO_0000839 node EFO_0008508 large cell medulloblastoma null http://www.ebi.ac.uk/efo/EFO_0008508 node NCIT_C535 Guanosine Diphosphate A purine nucleotide diphosphate comprised of a guanine and a pyrophosphate moiety bound to a ribose moiety at its 1' and 5' sites, respectively. Guanosine diphosphate (GDP) is an inactive metabolite and intermediate in the synthesis of guanosine triphosphate (GTP). http://purl.obolibrary.org/obo/NCIT_C535 node EFO_0005103 obsolete_antennal disc null http://www.ebi.ac.uk/efo/EFO_0005103 node CLO_0016520 GM17835 null http://purl.obolibrary.org/obo/CLO_0016520 node Orphanet_369891 Cardiac anomalies-developmental delay-facial dysmorphism syndrome null http://www.orpha.net/ORDO/Orphanet_369891 node NCBITaxon_72603 Calyptogena pacifica gill symbiont null http://purl.obolibrary.org/obo/NCBITaxon_72603 node HP_0030303 Hypoplastic anterior commissure null http://purl.obolibrary.org/obo/HP_0030303 node MONDO_0019474 hepatosplenic T-cell lymphoma null http://purl.obolibrary.org/obo/MONDO_0019474 node EFO_0008302 transforming growth factor-beta-induced protein ig-h3 measurement null http://www.ebi.ac.uk/efo/EFO_0008302 node EFO_1000646 papillary carcinoma null http://www.ebi.ac.uk/efo/EFO_1000646 node EFO_0007068 ulcer of lower limb null http://www.ebi.ac.uk/efo/EFO_0007068 node Orphanet_96107 Distal trisomy 20q null http://www.orpha.net/ORDO/Orphanet_96107 node MONDO_0032916 Imagawa-Matsumoto syndrome null http://purl.obolibrary.org/obo/MONDO_0032916 node MONDO_0003249 pineal gland cancer null http://purl.obolibrary.org/obo/MONDO_0003249 node GO_0042630 behavioral response to water deprivation null http://purl.obolibrary.org/obo/GO_0042630 node EFO_0005038 hair morphology null http://www.ebi.ac.uk/efo/EFO_0005038 node CLO_0016455 GM17847 null http://purl.obolibrary.org/obo/CLO_0016455 node Orphanet_91358 Congenital esophageal diverticulum null http://www.orpha.net/ORDO/Orphanet_91358 node CHEBI_2676 amoxicillin null http://purl.obolibrary.org/obo/CHEBI_2676 node EFO_1000734 miliaria null http://www.ebi.ac.uk/efo/EFO_1000734 node EFO_0007156 Ascaridida infectious disease null http://www.ebi.ac.uk/efo/EFO_0007156 node UBERON_0001157 transverse colon null http://purl.obolibrary.org/obo/UBERON_0001157 node EFO_0008203 lactadherin measurement null http://www.ebi.ac.uk/efo/EFO_0008203 node MONDO_0015699 immunodeficiency due to a classical component pathway complement deficiency null http://purl.obolibrary.org/obo/MONDO_0015699 node CLO_0031281 GM14468 null http://purl.obolibrary.org/obo/CLO_0031281 node Orphanet_217023 Atypical hemolytic-uremic syndrome with thrombomodulin anomaly null http://www.orpha.net/ORDO/Orphanet_217023 node MONDO_0003337 acute hemorrhagic encephalitis null http://purl.obolibrary.org/obo/MONDO_0003337 node Orphanet_2508 Micrencephaly - corpus callosum agenesis - abnormal genitalia null http://www.orpha.net/ORDO/Orphanet_2508 node CL_0002045 Fraction A pre-pro B cell Markers associated with mouse cells. http://purl.obolibrary.org/obo/CL_0002045 node Orphanet_3248 Distal symphalangism null http://www.orpha.net/ORDO/Orphanet_3248 node MONDO_0003735 central nervous system immature teratoma null http://purl.obolibrary.org/obo/MONDO_0003735 node EFO_0003826 salivary gland neoplasm null http://www.ebi.ac.uk/efo/EFO_0003826 node Orphanet_207070 Qualitative or quantitative defects of delta-sarcoglycan null http://www.orpha.net/ORDO/Orphanet_207070 node EFO_1000341 Lymphomatoid Papulosis null http://www.ebi.ac.uk/efo/EFO_1000341 node EFO_1000136 Borderline Ovarian Clear Cell Tumor null http://www.ebi.ac.uk/efo/EFO_1000136 node CHEBI_15318 xanthine null http://purl.obolibrary.org/obo/CHEBI_15318 node EFO_0002797 LHSR null http://www.ebi.ac.uk/efo/EFO_0002797 node EFO_1000617 Vaginal Adenoid Cystic Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000617 node EFO_0007244 Ebstein anomaly null http://www.ebi.ac.uk/efo/EFO_0007244 node EFO_0003639 obsolete_tooth 4V null http://www.ebi.ac.uk/efo/EFO_0003639 node CL_0000775 neutrophil null http://purl.obolibrary.org/obo/CL_0000775 node HP_0001319 Neonatal hypotonia null http://purl.obolibrary.org/obo/HP_0001319 node EFO_0002202 HT1197 null http://www.ebi.ac.uk/efo/EFO_0002202 node MONDO_0044881 hematopoietic and lymphoid cell neoplasm null http://purl.obolibrary.org/obo/MONDO_0044881 node NCBITaxon_117187 Gibberella moniliformis null http://purl.obolibrary.org/obo/NCBITaxon_117187 node CHEBI_34905 paraquat null http://purl.obolibrary.org/obo/CHEBI_34905 node Orphanet_2409 Lowry-MacLean syndrome null http://www.orpha.net/ORDO/Orphanet_2409 node Orphanet_708 Peters anomaly null http://www.orpha.net/ORDO/Orphanet_708 node UBERON_0003697 abdominal wall null http://purl.obolibrary.org/obo/UBERON_0003697 node EFO_1000224 Duodenal Gastrin-Producing Neuroendocrine Tumor null http://www.ebi.ac.uk/efo/EFO_1000224 node EFO_0004831 RR interval null http://www.ebi.ac.uk/efo/EFO_0004831 node MONDO_0003646 rectum neuroendocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0003646 node CHEBI_25705 organochlorine pesticides null http://purl.obolibrary.org/obo/CHEBI_25705 node EFO_0002904 weight percent null http://www.ebi.ac.uk/efo/EFO_0002904 node EFO_0003727 obsolete_kidney (Rattus norvegicus) null http://www.ebi.ac.uk/efo/EFO_0003727 node EFO_0001933 obsolete_wing disc null http://www.ebi.ac.uk/efo/EFO_0001933 node Orphanet_99012 Autosomal recessive optic atrophy, OPA6 type null http://www.orpha.net/ORDO/Orphanet_99012 node HP_0001407 Hepatic cysts null http://purl.obolibrary.org/obo/HP_0001407 node EFO_0001243 SUM190PT null http://www.ebi.ac.uk/efo/EFO_0001243 node EFO_0000074 CS57719 null http://www.ebi.ac.uk/efo/EFO_0000074 node NCBITaxon_434270 Actinobacillus pleuropneumoniae serovar 3 null http://purl.obolibrary.org/obo/NCBITaxon_434270 node Orphanet_50944 Schöpf-Schulz-Passarge syndrome null http://www.orpha.net/ORDO/Orphanet_50944 node Orphanet_171709 Male infertility due to globozoospermia null http://www.orpha.net/ORDO/Orphanet_171709 node EFO_0001066 experimental autoimmune encephalomyelitis null http://www.ebi.ac.uk/efo/EFO_0001066 node Orphanet_3424 Velo-facial-skeletal syndrome null http://www.orpha.net/ORDO/Orphanet_3424 node EFO_0008419 susceptibility to chronic sinus infection measurement null http://www.ebi.ac.uk/efo/EFO_0008419 node MONDO_0018831 HTRA1-related cerebral small vessel disease null http://purl.obolibrary.org/obo/MONDO_0018831 node NCBITaxon_3767 Pyrus pyrifolia null http://purl.obolibrary.org/obo/NCBITaxon_3767 node MONDO_0044782 esophageal ulcer null http://purl.obolibrary.org/obo/MONDO_0044782 node NCBITaxon_1354 Enterococcus hirae null http://purl.obolibrary.org/obo/NCBITaxon_1354 node EFO_0004460 soluble transferrin receptor measurement null http://www.ebi.ac.uk/efo/EFO_0004460 node MONDO_0021149 genetic vs non-genetic etiology null http://purl.obolibrary.org/obo/MONDO_0021149 node Orphanet_609 Tibial muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_609 node Orphanet_178355 Smith-McCort dysplasia null http://www.orpha.net/ORDO/Orphanet_178355 node CHEBI_85740 triacylglycerol 54:7 null http://purl.obolibrary.org/obo/CHEBI_85740 node CL_0000182 hepatocyte Hepatocytes are reportedly MHC Class I-positive and MHC Class II-positive. http://purl.obolibrary.org/obo/CL_0000182 node CHEBI_27992 trans-4-hydroxy-D-proline null http://purl.obolibrary.org/obo/CHEBI_27992 node UBERON_0002541 germ ring null http://purl.obolibrary.org/obo/UBERON_0002541 node CHEBI_83041 10-undecenoate null http://purl.obolibrary.org/obo/CHEBI_83041 node Orphanet_46348 Paroxysmal extreme pain disorder null http://www.orpha.net/ORDO/Orphanet_46348 node Orphanet_2010 Cleft palate - stapes fixation - oligodontia null http://www.orpha.net/ORDO/Orphanet_2010 node EFO_0005295 migraine with aura null http://www.ebi.ac.uk/efo/EFO_0005295 node Orphanet_183545 Genetic digestive tract malformation null http://www.orpha.net/ORDO/Orphanet_183545 node MONDO_0000586 autoimmune disease of exocrine system null http://purl.obolibrary.org/obo/MONDO_0000586 node CHEBI_35821 anticholesteremic drug null http://purl.obolibrary.org/obo/CHEBI_35821 node MONDO_0021237 adrenal medulla neoplasm null http://purl.obolibrary.org/obo/MONDO_0021237 node PO_0020141 stem node null http://purl.obolibrary.org/obo/PO_0020141 node EFO_0000907 obsolete_caudate nucleus null http://www.ebi.ac.uk/efo/EFO_0000907 node Orphanet_261190 15q14 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261190 node EFO_0006517 interferon alpha measurement null http://www.ebi.ac.uk/efo/EFO_0006517 node Orphanet_2976 Pseudoleprechaunism syndrome, Patterson type null http://www.orpha.net/ORDO/Orphanet_2976 node NCBITaxon_12242 Tobacco mosaic virus null http://purl.obolibrary.org/obo/NCBITaxon_12242 node Orphanet_1146 Digitotalar dysmorphism null http://www.orpha.net/ORDO/Orphanet_1146 node NCBITaxon_29875 Hypocrea virens null http://purl.obolibrary.org/obo/NCBITaxon_29875 node Orphanet_216972 Niemann-Pick disease type C, severe perinatal form null http://www.orpha.net/ORDO/Orphanet_216972 node Orphanet_2286 Solitary median maxillary central incisor syndrome null http://www.orpha.net/ORDO/Orphanet_2286 node HP_0007126 Proximal amyotrophy Proximal amyotrophy usually has a roughly symmetric distribution. http://purl.obolibrary.org/obo/HP_0007126 node UBERON_0009115 thoracic thymus null http://purl.obolibrary.org/obo/UBERON_0009115 node MONDO_0019270 erythrokeratoderma null http://purl.obolibrary.org/obo/MONDO_0019270 node CHEBI_17113 erythritol null http://purl.obolibrary.org/obo/CHEBI_17113 node EFO_0010935 cytokine secretion assay null http://www.ebi.ac.uk/efo/EFO_0010935 node CL_0000833 eosinophilic promyelocyte null http://purl.obolibrary.org/obo/CL_0000833 node CLO_0016457 GM17842 null http://purl.obolibrary.org/obo/CLO_0016457 node EFO_0005625 oral Crohn's disease null http://www.ebi.ac.uk/efo/EFO_0005625 node MONDO_0033006 Galloway-Mowat syndrome 2, X-linked null http://purl.obolibrary.org/obo/MONDO_0033006 node UBERON_0000991 gonad null http://purl.obolibrary.org/obo/UBERON_0000991 node EFO_0000808 animal body part null http://www.ebi.ac.uk/efo/EFO_0000808 node Orphanet_1234 Bartsocas-Papas syndrome null http://www.orpha.net/ORDO/Orphanet_1234 node Orphanet_97286 Carney-Stratakis syndrome null http://www.orpha.net/ORDO/Orphanet_97286 node Orphanet_79142 Familial Dupuytren contracture null http://www.orpha.net/ORDO/Orphanet_79142 node Orphanet_2374 Congenital laryngeal web null http://www.orpha.net/ORDO/Orphanet_2374 node EFO_0010068 respiratory symptom change measurement null http://www.ebi.ac.uk/efo/EFO_0010068 node EFO_0010549 xanthosine measurement null http://www.ebi.ac.uk/efo/EFO_0010549 node EFO_0008294 superoxide dismutase [Mn], mitochondrial measurement null http://www.ebi.ac.uk/efo/EFO_0008294 node EFO_0008753 GMUCT 2.0 null http://www.ebi.ac.uk/efo/EFO_0008753 node EFO_0007930 LDL cholesterol:HDL cholesterol ratio null http://www.ebi.ac.uk/efo/EFO_0007930 node EFO_0006396 G112 null http://www.ebi.ac.uk/efo/EFO_0006396 node CLO_0027483 GM15223 null http://purl.obolibrary.org/obo/CLO_0027483 node Orphanet_352675 X-linked Charcot-Marie-Tooth disease type 6 Editor note: check CMT6X synonym, this implies it is a subtype of CMT6 http://www.orpha.net/ORDO/Orphanet_352675 node Orphanet_325697 Genetic 46,XX disorder of sex development null http://www.orpha.net/ORDO/Orphanet_325697 node EFO_0008998 acute synovitis null http://www.ebi.ac.uk/efo/EFO_0008998 node MONDO_0037940 inherited auditory system disease null http://purl.obolibrary.org/obo/MONDO_0037940 node CL_0000921 type I NK T cell In mouse the canonical TCR is V-alpha-14, and in humans it is V-alpha 24. http://purl.obolibrary.org/obo/CL_0000921 node Orphanet_85326 X-linked intellectual disability, Stoll type null http://www.orpha.net/ORDO/Orphanet_85326 node Orphanet_238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea null http://www.orpha.net/ORDO/Orphanet_238763 node EFO_0005713 8988T null http://www.ebi.ac.uk/efo/EFO_0005713 node EFO_0005508 L1 larva null http://www.ebi.ac.uk/efo/EFO_0005508 node Orphanet_67042 Late-onset retinal degeneration null http://www.orpha.net/ORDO/Orphanet_67042 node Orphanet_79230 Hemochromatosis type 2 null http://www.orpha.net/ORDO/Orphanet_79230 node EFO_1000891 De Quervain disease null http://www.ebi.ac.uk/efo/EFO_1000891 node EFO_0010156 sweet liking measurement null http://www.ebi.ac.uk/efo/EFO_0010156 node EFO_0008382 TP53 mutation status null http://www.ebi.ac.uk/efo/EFO_0008382 node MONDO_0013474 hypertrophic cardiomyopathy 17 null http://purl.obolibrary.org/obo/MONDO_0013474 node EFO_0008195 kallikrein-7 measurement null http://www.ebi.ac.uk/efo/EFO_0008195 node UO_0000004 electric current unit null http://purl.obolibrary.org/obo/UO_0000004 node UBERON_0006558 lymphatic part of lymphoid system null http://purl.obolibrary.org/obo/UBERON_0006558 node OBI_0400117 vacuum dryer null http://purl.obolibrary.org/obo/OBI_0400117 node UBERON_0004200 kidney pyramid null http://purl.obolibrary.org/obo/UBERON_0004200 node EFO_0001648 geometric modifier null http://www.ebi.ac.uk/efo/EFO_0001648 node EFO_0002770 transcription profiling by high throughput sequencing Old definition: An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, analyse the transcibed regions of the genome, and or to quantitate transcript abundance The current definition was updated by Sira on May 27th, 2016 http://www.ebi.ac.uk/efo/EFO_0002770 node EFO_0002593 distal renal artery null http://www.ebi.ac.uk/efo/EFO_0002593 node EFO_0008899 RPL null http://www.ebi.ac.uk/efo/EFO_0008899 node EFO_0009238 Immature Plasma Cell Count null http://www.ebi.ac.uk/efo/EFO_0009238 node Orphanet_79113 Mandibulofacial dysostosis-microcephaly syndrome null http://www.orpha.net/ORDO/Orphanet_79113 node Orphanet_93267 Cloverleaf skull - multiple congenital anomalies null http://www.orpha.net/ORDO/Orphanet_93267 node Orphanet_209978 Alternating hemiplegia null http://www.orpha.net/ORDO/Orphanet_209978 node EFO_1000792 Acinetobacter infectious disease null http://www.ebi.ac.uk/efo/EFO_1000792 node PO_0009001 fruit The mature ovary or ovaries of a seed-bearing plant, together with accessory parts, containing the seeds and occurring in a wide variety of forms. http://purl.obolibrary.org/obo/PO_0009001 node Orphanet_306486 Congenital sucrase-isomaltase deficiency without sucrose intolerance null http://www.orpha.net/ORDO/Orphanet_306486 node EFO_0009459 ACPA-positive rheumatoid arthritis null http://www.ebi.ac.uk/efo/EFO_0009459 node Orphanet_324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations null http://www.orpha.net/ORDO/Orphanet_324364 node Orphanet_391330 X-linked osteoporosis with fractures null http://www.orpha.net/ORDO/Orphanet_391330 node Orphanet_329475 Spastic paraplegia - Paget disease of bone null http://www.orpha.net/ORDO/Orphanet_329475 node HP_0004420 Arterial thrombosis null http://purl.obolibrary.org/obo/HP_0004420 node EFO_0002476 obsolete_supraoptic nucleus null http://www.ebi.ac.uk/efo/EFO_0002476 node CLO_0013893 GM17213 null http://purl.obolibrary.org/obo/CLO_0013893 node EFO_1001189 spermatocele null http://www.ebi.ac.uk/efo/EFO_1001189 node EFO_0000989 root structure null http://www.ebi.ac.uk/efo/EFO_0000989 node Orphanet_720 Pili bifurcati null http://www.orpha.net/ORDO/Orphanet_720 node CHEBI_25675 oligomycin null http://purl.obolibrary.org/obo/CHEBI_25675 node GO_0005634 nucleus null http://purl.obolibrary.org/obo/GO_0005634 node Orphanet_66518 Short fifth metacarpals - insulin resistance null http://www.orpha.net/ORDO/Orphanet_66518 node EFO_0009139 glut1 deficiency syndrome 1, autosomal recessive null http://www.ebi.ac.uk/efo/EFO_0009139 node Orphanet_171866 Spondyloepimetaphyseal dysplasia, aggrecan type null http://www.orpha.net/ORDO/Orphanet_171866 node EFO_0009547 eyelid disease null http://www.ebi.ac.uk/efo/EFO_0009547 node NCBITaxon_1589 Lactobacillus pentosus null http://purl.obolibrary.org/obo/NCBITaxon_1589 node EFO_0002282 NCI-H2171 null http://www.ebi.ac.uk/efo/EFO_0002282 node EFO_0002741 B10.NOD_H2g7_Idd3 null http://www.ebi.ac.uk/efo/EFO_0002741 node MONDO_0014080 osteosclerotic metaphyseal dysplasia null http://purl.obolibrary.org/obo/MONDO_0014080 node CHEBI_25858 1,7-dimethylxanthine null http://purl.obolibrary.org/obo/CHEBI_25858 node EFO_0000596 obsolete_motoneuron null http://www.ebi.ac.uk/efo/EFO_0000596 node EFO_1001277 Branchioma null http://www.ebi.ac.uk/efo/EFO_1001277 node EFO_0002962 animal reproductive system cell null http://www.ebi.ac.uk/efo/EFO_0002962 node UO_0000160 microeinstein per square meter per second null http://purl.obolibrary.org/obo/UO_0000160 node CHEBI_16742 orotic acid null http://purl.obolibrary.org/obo/CHEBI_16742 node EFO_0009635 blood donor null http://www.ebi.ac.uk/efo/EFO_0009635 node HP_0010857 EEG with periodic abnormalities null http://purl.obolibrary.org/obo/HP_0010857 node Orphanet_550 MELAS null http://www.orpha.net/ORDO/Orphanet_550 node Orphanet_275752 Sickle cell disease and related diseases null http://www.orpha.net/ORDO/Orphanet_275752 node EFO_0002370 SW756 null http://www.ebi.ac.uk/efo/EFO_0002370 node EFO_0004522 adhesion molecule measurement null http://www.ebi.ac.uk/efo/EFO_0004522 node EFO_1001979 Adrenocorticotropic hormone deficiency null http://www.ebi.ac.uk/efo/EFO_1001979 node UBERON_0000044 dorsal root ganglion null http://purl.obolibrary.org/obo/UBERON_0000044 node Orphanet_167759 Hereditary dentin defect null http://www.orpha.net/ORDO/Orphanet_167759 node Orphanet_295061 Humeral agenesis/hypoplasia, unilateral null http://www.orpha.net/ORDO/Orphanet_295061 node Orphanet_181428 Hyperalphalipoproteinemia null http://www.orpha.net/ORDO/Orphanet_181428 node EFO_0010434 triacylglycerol 56:7 measurement null http://www.ebi.ac.uk/efo/EFO_0010434 node NCBITaxon_9531 Cercocebus atys null http://purl.obolibrary.org/obo/NCBITaxon_9531 node Orphanet_1779 Dysmorphism - cleft palate - loose skin null http://www.orpha.net/ORDO/Orphanet_1779 node Orphanet_99429 Complete androgen insensitivity syndrome null http://www.orpha.net/ORDO/Orphanet_99429 node CHEBI_33250 element null http://purl.obolibrary.org/obo/CHEBI_33250 node MONDO_0044334 connective and soft tissue neoplasm Editor note: we follow NCIT in making this a grouping of all soft tissue and connective tissue neoplasms, including bone http://purl.obolibrary.org/obo/MONDO_0044334 node MONDO_0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures null http://purl.obolibrary.org/obo/MONDO_0060577 node EFO_0003049 obsolete_ilium null http://www.ebi.ac.uk/efo/EFO_0003049 node Orphanet_276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency null http://www.orpha.net/ORDO/Orphanet_276580 node Orphanet_2090 GMS syndrome null http://www.orpha.net/ORDO/Orphanet_2090 node NCBITaxon_11608 Seoul virus null http://purl.obolibrary.org/obo/NCBITaxon_11608 node EFO_0005372 HCC1419 null http://www.ebi.ac.uk/efo/EFO_0005372 node EFO_1000425 Ovarian Mixed Epithelial Tumor null http://www.ebi.ac.uk/efo/EFO_1000425 node FBbt_00005511 pars intercerebralis primordium null http://purl.obolibrary.org/obo/FBbt_00005511 node EFO_0004374 milligram per deciliter null http://www.ebi.ac.uk/efo/EFO_0004374 node EFO_0003447 obsolete_presumptive rhombomere 7 null http://www.ebi.ac.uk/efo/EFO_0003447 node CLO_0031529 GM14478 null http://purl.obolibrary.org/obo/CLO_0031529 node EFO_0010522 phosphoenolpyruvic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010522 node HP_0100613 Death in early adulthood null http://purl.obolibrary.org/obo/HP_0100613 node EFO_0006575 GP2d null http://www.ebi.ac.uk/efo/EFO_0006575 node Orphanet_1867 Bullous dystrophy, macular type null http://www.orpha.net/ORDO/Orphanet_1867 node UBERON_2000657 entopterygoid null http://purl.obolibrary.org/obo/UBERON_2000657 node EFO_1001469 Mantle cell lymphoma null http://www.ebi.ac.uk/efo/EFO_1001469 node UBERON_0002097 skin of body null http://purl.obolibrary.org/obo/UBERON_0002097 node Orphanet_101109 Spinocerebellar ataxia type 28 null http://www.orpha.net/ORDO/Orphanet_101109 node CHEBI_23995 ethyl nitrosourea null http://purl.obolibrary.org/obo/CHEBI_23995 node CHEBI_20710 3-dehydro-6-deoxoteasterone null http://purl.obolibrary.org/obo/CHEBI_20710 node EFO_1001511 monogenic diabetes null http://www.ebi.ac.uk/efo/EFO_1001511 node EFO_0005460 SKI-DCLC null http://www.ebi.ac.uk/efo/EFO_0005460 node EFO_1000032 granulosa cell tumor null http://www.ebi.ac.uk/efo/EFO_1000032 node CHEBI_74753 Pro-Ala null http://purl.obolibrary.org/obo/CHEBI_74753 node EFO_0004462 PR interval null http://www.ebi.ac.uk/efo/EFO_0004462 node EFO_0003535 obsolete_periventricular grey zone null http://www.ebi.ac.uk/efo/EFO_0003535 node NCBITaxon_781 Rickettsia conorii null http://purl.obolibrary.org/obo/NCBITaxon_781 node CLO_0014952 GM17115 null http://purl.obolibrary.org/obo/CLO_0014952 node EFO_0010610 tumor necrosis factor receptor superfamily member 6 measurement null http://www.ebi.ac.uk/efo/EFO_0010610 node EFO_0010405 triacylglycerol 48:2 measurement null http://www.ebi.ac.uk/efo/EFO_0010405 node MONDO_0002977 autoimmune disease of the nervous system null http://purl.obolibrary.org/obo/MONDO_0002977 node Orphanet_314632 Parkinsonism due to ATP13A2 deficiency null http://www.orpha.net/ORDO/Orphanet_314632 node CHEBI_3723 citalopram null http://purl.obolibrary.org/obo/CHEBI_3723 node HP_0011804 Abnormal muscle physiology null http://purl.obolibrary.org/obo/HP_0011804 node EFO_0000205 stage I endometrioid carcinoma null http://www.ebi.ac.uk/efo/EFO_0000205 node EFO_0010831 testicular mixed germ cell tumor null http://www.ebi.ac.uk/efo/EFO_0010831 node PATO_0000912 increased rate null http://purl.obolibrary.org/obo/PATO_0000912 node EFO_1000120 Benign Skin Appendage Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000120 node EFO_0005316 sample pooling null http://www.ebi.ac.uk/efo/EFO_0005316 node MONDO_0021416 polyp of gallbladder null http://purl.obolibrary.org/obo/MONDO_0021416 node Orphanet_2755 Orofaciodigital syndrome type 8 null http://www.orpha.net/ORDO/Orphanet_2755 node EFO_0004345 corneal topography null http://www.ebi.ac.uk/efo/EFO_0004345 node EFO_0003418 obsolete_cibarium primordium null http://www.ebi.ac.uk/efo/EFO_0003418 node EFO_0010012 ADPr-ChAP null http://www.ebi.ac.uk/efo/EFO_0010012 node MONDO_0021239 urethra neoplasm null http://purl.obolibrary.org/obo/MONDO_0021239 node Orphanet_93314 Spondylometaphyseal dysplasia, Kozlowski type null http://www.orpha.net/ORDO/Orphanet_93314 node MONDO_0045016 cholesterol catabolic process disease null http://purl.obolibrary.org/obo/MONDO_0045016 node PO_0007010 whole plant fruit ripening stage null http://purl.obolibrary.org/obo/PO_0007010 node HP_0011411 Forceps delivery null http://purl.obolibrary.org/obo/HP_0011411 node MONDO_0002878 uterine corpus adenosarcoma Editor note: check ONCOTREE mapping http://purl.obolibrary.org/obo/MONDO_0002878 node EFO_0006690 NCI-H292 null http://www.ebi.ac.uk/efo/EFO_0006690 node DOID_13406 pulmonary sarcoidosis null http://purl.obolibrary.org/obo/DOID_13406 node EFO_0010233 genotoxic compound exposure measurement null http://www.ebi.ac.uk/efo/EFO_0010233 node ZFA_0000565 pelvic girdle null http://purl.obolibrary.org/obo/ZFA_0000565 node EFO_0010714 10X TCR enrichment null http://www.ebi.ac.uk/efo/EFO_0010714 node Orphanet_101992 Immunodeficiency due to a complement cascade protein anomaly Editor note: consider merge, see https://docs.google.com/document/d/1wNW8wypaeo7fuBVfeplkD4RQ9-kuEQl0O9U5PdLintE/edit# http://www.orpha.net/ORDO/Orphanet_101992 node CL_0000612 eosinophilic myelocyte null http://purl.obolibrary.org/obo/CL_0000612 node HP_0011705 First degree atrioventricular block The conduction of the cardiac impulse through the atrioventricular node is manifested in the EKG by the PR interval, which is normally less that 200 milliseconds in adults. Normal values are age-dependent in children, but normal values are less that 160 milliseconds in young children. http://purl.obolibrary.org/obo/HP_0011705 node CHEBI_15963 ribitol null http://purl.obolibrary.org/obo/CHEBI_15963 node EFO_0005404 response to cold pressor test null http://www.ebi.ac.uk/efo/EFO_0005404 node EFO_0000106 obsolete_CNS brain hippocampus MMHCC Obsolete - term hippocampus already exists http://www.ebi.ac.uk/efo/EFO_0000106 node EFO_0007838 response to anti-thyroid drug null http://www.ebi.ac.uk/efo/EFO_0007838 node Orphanet_1620 Distal monosomy 3p null http://www.orpha.net/ORDO/Orphanet_1620 node FBbt_00004891 pole plasm null http://purl.obolibrary.org/obo/FBbt_00004891 node EFO_0005217 cervical adenocarcinoma cell line null http://www.ebi.ac.uk/efo/EFO_0005217 node EFO_1000319 Laryngeal Adenoid Cystic Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000319 node Orphanet_955 Acroosteolysis dominant type null http://www.orpha.net/ORDO/Orphanet_955 node EFO_0009952 post-operative atrial fibrillation null http://www.ebi.ac.uk/efo/EFO_0009952 node MONDO_0017212 paraneoplastic uveitis null http://purl.obolibrary.org/obo/MONDO_0017212 node Orphanet_265 Autosomal dominant limb-girdle muscular dystrophy type 1C null http://www.orpha.net/ORDO/Orphanet_265 node MONDO_0021084 vision disorder null http://purl.obolibrary.org/obo/MONDO_0021084 node MONDO_0019588 autosomal recessive nonsyndromic deafness null http://purl.obolibrary.org/obo/MONDO_0019588 node EFO_0010321 pars triangularis volume measurement null http://www.ebi.ac.uk/efo/EFO_0010321 node EFO_0007369 milk allergic reaction null http://www.ebi.ac.uk/efo/EFO_0007369 node Orphanet_2925 Polymicrogyria - turricephaly - hypogenitalism null http://www.orpha.net/ORDO/Orphanet_2925 node EFO_0009998 eCLIP null http://www.ebi.ac.uk/efo/EFO_0009998 node Orphanet_156731 Dyssegmental dysplasia, Rolland-Desbuquois type null http://www.orpha.net/ORDO/Orphanet_156731 node NCBITaxon_278028 Naumovozyma null http://purl.obolibrary.org/obo/NCBITaxon_278028 node EFO_0007457 pseudorabies null http://www.ebi.ac.uk/efo/EFO_0007457 node Orphanet_2826 Spastic paraplegia - precocious puberty null http://www.orpha.net/ORDO/Orphanet_2826 node Orphanet_3063 X-linked intellectual disability, Snyder type null http://www.orpha.net/ORDO/Orphanet_3063 node Orphanet_86816 Congenital analbuminemia null http://www.orpha.net/ORDO/Orphanet_86816 node Orphanet_98564 Eyelid border anomaly null http://www.orpha.net/ORDO/Orphanet_98564 node EFO_1001835 pyelocystitis null http://www.ebi.ac.uk/efo/EFO_1001835 node MONDO_0020295 congenital pulmonary veins anomaly null http://purl.obolibrary.org/obo/MONDO_0020295 node Orphanet_3151 Multiple sclerosis - ichthyosis - factor VIII deficiency null http://www.orpha.net/ORDO/Orphanet_3151 node EFO_0000287 biopsy number null http://www.ebi.ac.uk/efo/EFO_0000287 node Orphanet_207021 Rare hereditary systemic disease with peripheral neuropathy null http://www.orpha.net/ORDO/Orphanet_207021 node CHEBI_64086 vanoxerine dihydrochloride null http://purl.obolibrary.org/obo/CHEBI_64086 node EFO_0008144 granulysin measurement null http://www.ebi.ac.uk/efo/EFO_0008144 node CLO_0031278 GM14464 null http://purl.obolibrary.org/obo/CLO_0031278 node CHEBI_64567 lysophosphatidylcholine 22:6 null http://purl.obolibrary.org/obo/CHEBI_64567 node EFO_0002196 HOS null http://www.ebi.ac.uk/efo/EFO_0002196 node EFO_0001269 mating type h minus null http://www.ebi.ac.uk/efo/EFO_0001269 node Orphanet_98652 Lens size anomaly null http://www.orpha.net/ORDO/Orphanet_98652 node EFO_0000685 rheumatoid arthritis null http://www.ebi.ac.uk/efo/EFO_0000685 node EFO_0008073 cathepsin S measurement null http://www.ebi.ac.uk/efo/EFO_0008073 node EFO_1000395 Nevus of Ito null http://www.ebi.ac.uk/efo/EFO_1000395 node EFO_1001442 cardiac tuberculosis null http://www.ebi.ac.uk/efo/EFO_1001442 node EFO_1001923 varicose ulcer null http://www.ebi.ac.uk/efo/EFO_1001923 node NCBITaxon_2788 Pyropia yezoensis null http://purl.obolibrary.org/obo/NCBITaxon_2788 node EFO_0005872 embryonic stage 12 Temporal ordering number - 320. http://www.ebi.ac.uk/efo/EFO_0005872 node EFO_0004945 T4a tumor stage null http://www.ebi.ac.uk/efo/EFO_0004945 node EFO_0010492 glycocholic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010492 node EFO_0008848 PARS null http://www.ebi.ac.uk/efo/EFO_0008848 node NCBITaxon_76772 Spermophilus lateralis null http://purl.obolibrary.org/obo/NCBITaxon_76772 node MONDO_0004790 fatty liver disease null http://purl.obolibrary.org/obo/MONDO_0004790 node UBERON_0002169 alveolar sac null http://purl.obolibrary.org/obo/UBERON_0002169 node MONDO_0020586 factor V deficiency null http://purl.obolibrary.org/obo/MONDO_0020586 node Orphanet_69737 Bosley-Salih-Alorainy syndrome null http://www.orpha.net/ORDO/Orphanet_69737 node Orphanet_231692 Isolated growth hormone deficiency type III null http://www.orpha.net/ORDO/Orphanet_231692 node EFO_0004078 CB306 null http://www.ebi.ac.uk/efo/EFO_0004078 node UBERON_2001302 vagal ganglion 1 null http://purl.obolibrary.org/obo/UBERON_2001302 node PO_0005597 cambium This term is applied to only two types of meristems: vascular cambium (PO:0005598) and cork cambium/phellogen (PO:0005599). http://purl.obolibrary.org/obo/PO_0005597 node EFO_0002284 NCI-H2228 null http://www.ebi.ac.uk/efo/EFO_0002284 node EFO_0001357 sporadic amyotrophic lateral sclerosis null http://www.ebi.ac.uk/efo/EFO_0001357 node EFO_0000188 obsolete_liver carcinoma null http://www.ebi.ac.uk/efo/EFO_0000188 node EFO_0000773 temporal lobe epilepsy null http://www.ebi.ac.uk/efo/EFO_0000773 node EFO_1000483 Pleural Biphasic Mesothelioma null http://www.ebi.ac.uk/efo/EFO_1000483 node Orphanet_209053 Qualitative or quantitative defects of titin null http://www.orpha.net/ORDO/Orphanet_209053 node EFO_0008455 sleep apnea measurement during REM sleep null http://www.ebi.ac.uk/efo/EFO_0008455 node Orphanet_178469 Autosomal dominant non-syndromic intellectual disability Editor note: wrongly classified in ORDO, see https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 - check also Koolen-de vries http://www.orpha.net/ORDO/Orphanet_178469 node EFO_0010580 blastic plasmacytoid dendritic cell neoplasm null http://www.ebi.ac.uk/efo/EFO_0010580 node EFO_0003828 spinal cord neoplasm null http://www.ebi.ac.uk/efo/EFO_0003828 node UBERON_0005563 trigeminal neural crest null http://purl.obolibrary.org/obo/UBERON_0005563 node MONDO_0021666 ear infection null http://purl.obolibrary.org/obo/MONDO_0021666 node EFO_0003138 HCC95 null http://www.ebi.ac.uk/efo/EFO_0003138 node CHEBI_132002 cholesteryl octadecadienoate null http://purl.obolibrary.org/obo/CHEBI_132002 node EFO_0002372 SW837 null http://www.ebi.ac.uk/efo/EFO_0002372 node EFO_0002167 DOHH2 null http://www.ebi.ac.uk/efo/EFO_0002167 node HP_0002916 Abnormality of chromosome segregation null http://purl.obolibrary.org/obo/HP_0002916 node Orphanet_411 Hyperlipoproteinemia type 1 null http://www.orpha.net/ORDO/Orphanet_411 node Orphanet_1077 Dental ankylosis null http://www.orpha.net/ORDO/Orphanet_1077 node NCBITaxon_2759 Eukaryota null http://purl.obolibrary.org/obo/NCBITaxon_2759 node HP_0001273 Abnormal corpus callosum morphology The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium. http://purl.obolibrary.org/obo/HP_0001273 node EFO_0003916 obsolete_cerebral arteriovenous malformation null http://www.ebi.ac.uk/efo/EFO_0003916 node GO_1902519 response to docetaxel null http://purl.obolibrary.org/obo/GO_1902519 node Orphanet_2092 Focal dermal hypoplasia null http://www.orpha.net/ORDO/Orphanet_2092 node EFO_0005374 HCC227 null http://www.ebi.ac.uk/efo/EFO_0005374 node MONDO_0021496 benign neoplasm of lip null http://purl.obolibrary.org/obo/MONDO_0021496 node EFO_0006985 Col-7 Laura Huerta Martinez tells us that this is directly derived from Col-1. See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= http://www.ebi.ac.uk/efo/EFO_0006985 node GO_0009126 purine nucleoside monophosphate metabolic process null http://purl.obolibrary.org/obo/GO_0009126 node EFO_0003700 obsolete_rostral blood island null http://www.ebi.ac.uk/efo/EFO_0003700 node EFO_0010092 bitter alcoholic beverage consumption measurement null http://www.ebi.ac.uk/efo/EFO_0010092 node CL_0000549 basophilic erythroblast null http://purl.obolibrary.org/obo/CL_0000549 node Orphanet_312 Epidermolytic ichthyosis Editor note: check this. Should there be a generic form as well as AD form? Form for each gene? http://www.orpha.net/ORDO/Orphanet_312 node Orphanet_135 CACH syndrome null http://www.orpha.net/ORDO/Orphanet_135 node CHEBI_4659 disulfiram null http://purl.obolibrary.org/obo/CHEBI_4659 node HP_0011950 Bronchiolitis null http://purl.obolibrary.org/obo/HP_0011950 node EFO_0005180 CD1 mus strain null http://www.ebi.ac.uk/efo/EFO_0005180 node NCBITaxon_12239 Pepper mild mottle virus null http://purl.obolibrary.org/obo/NCBITaxon_12239 node UBERON_0001009 circulatory system null http://purl.obolibrary.org/obo/UBERON_0001009 node EFO_0005462 SW527 null http://www.ebi.ac.uk/efo/EFO_0005462 node GO_0007610 behavior I am trying to determine the difference between a process and a behaviour. Is behaviour dancing any different from the process dancing? http://purl.obolibrary.org/obo/GO_0007610 node EFO_0005809 type II hypersensitivity reaction disease Editor note: check OMIM http://www.ebi.ac.uk/efo/EFO_0005809 node MONDO_0002979 papillary squamous carcinoma null http://purl.obolibrary.org/obo/MONDO_0002979 node CHEBI_39548 atorvastatin null http://purl.obolibrary.org/obo/CHEBI_39548 node MONDO_0013747 atrioventricular septal defect 4 null http://purl.obolibrary.org/obo/MONDO_0013747 node CL_0002114 CD38-positive unswitched memory B cell null http://purl.obolibrary.org/obo/CL_0002114 node Orphanet_1816 Ectodermal dysplasia, Berlin type null http://www.orpha.net/ORDO/Orphanet_1816 node EFO_0005091 monocyte count null http://www.ebi.ac.uk/efo/EFO_0005091 node MONDO_0003761 leptomeningeal melanoma Editor note: TODO check meninx vs leptomeninges http://purl.obolibrary.org/obo/MONDO_0003761 node EFO_0007927 schizophrenia symptom severity measurement null http://www.ebi.ac.uk/efo/EFO_0007927 node EFO_0010107 CD8-positive T-lymphocyte count null http://www.ebi.ac.uk/efo/EFO_0010107 node GO_0015630 microtubule cytoskeleton null http://purl.obolibrary.org/obo/GO_0015630 node EFO_0002866 TE85 null http://www.ebi.ac.uk/efo/EFO_0002866 node EFO_0007313 HIV-associated nephropathy null http://www.ebi.ac.uk/efo/EFO_0007313 node CL_0000918 Tc2 cell This cell type is compatible with the HIPC Lyoplate markers for 'non-Tc1/Tc17 CD8+ T cell' (see CL:0001052), but includes the additional necessary and sufficient conditions to allow classification as a Tc2 T cell. http://purl.obolibrary.org/obo/CL_0000918 node CHEBI_60645 2-hydroxy-3-methylbutyric acid null http://purl.obolibrary.org/obo/CHEBI_60645 node EFO_0009483 breast disease null http://www.ebi.ac.uk/efo/EFO_0009483 node EFO_0007070 ACC112 null http://www.ebi.ac.uk/efo/EFO_0007070 node HP_0012248 Prolonged PR interval In adults, normal values are 120 to 200 ms long. http://purl.obolibrary.org/obo/HP_0012248 node Orphanet_2163 Holoprosencephaly - craniosynostosis null http://www.orpha.net/ORDO/Orphanet_2163 node CHEBI_60008 glycolithocholate null http://purl.obolibrary.org/obo/CHEBI_60008 node PO_0025281 pollen null http://purl.obolibrary.org/obo/PO_0025281 node EFO_0008942 Sono-Seq null http://www.ebi.ac.uk/efo/EFO_0008942 node GO_0061045 negative regulation of wound healing null http://purl.obolibrary.org/obo/GO_0061045 node Orphanet_370091 Oculocutaneous albinism type 5 null http://www.orpha.net/ORDO/Orphanet_370091 node Orphanet_263534 Acral peeling skin syndrome null http://www.orpha.net/ORDO/Orphanet_263534 node Orphanet_158665 Basal epidermolysis bullosa simplex null http://www.orpha.net/ORDO/Orphanet_158665 node MONDO_0014968 encephalopathy, progressive, with amyotrophy and optic atrophy null http://purl.obolibrary.org/obo/MONDO_0014968 node PO_0025585 floral organ formation stage During this stage, the process of floral organ development (GO:0048437) occurs. Floral organ development is defined as the process whose specific outcome is the progression of the floral organ over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/PO_0025585 node CHEBI_133511 3-hydroxyoctanoate null http://purl.obolibrary.org/obo/CHEBI_133511 node EFO_0003881 hysterectomy null http://www.ebi.ac.uk/efo/EFO_0003881 node EFO_0002954 differentiated null http://www.ebi.ac.uk/efo/EFO_0002954 node NCBITaxon_1639 Listeria monocytogenes null http://purl.obolibrary.org/obo/NCBITaxon_1639 node HP_0012042 Aspirin-induced asthma null http://purl.obolibrary.org/obo/HP_0012042 node CHEBI_38215 calcium channel blocker null http://purl.obolibrary.org/obo/CHEBI_38215 node CLO_0031953 GM14679 null http://purl.obolibrary.org/obo/CLO_0031953 node Orphanet_263347 MRCS syndrome null http://www.orpha.net/ORDO/Orphanet_263347 node EFO_0003694 obsolete_pharyngeal arch 3-7 null http://www.ebi.ac.uk/efo/EFO_0003694 node EFO_0002767 genotyping by array null http://www.ebi.ac.uk/efo/EFO_0002767 node HP_0001561 Polyhydramnios Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age. http://purl.obolibrary.org/obo/HP_0001561 node NCBITaxon_347834 Rhizobium etli CFN 42 null http://purl.obolibrary.org/obo/NCBITaxon_347834 node HP_0000447 Pear-shaped nose null http://purl.obolibrary.org/obo/HP_0000447 node EFO_1000893 denture stomatitis null http://www.ebi.ac.uk/efo/EFO_1000893 node CHEBI_58454 kynurenate null http://purl.obolibrary.org/obo/CHEBI_58454 node EFO_0009792 valine measurement null http://www.ebi.ac.uk/efo/EFO_0009792 node EFO_0000845 obsolete_descending colon null http://www.ebi.ac.uk/efo/EFO_0000845 node CL_0002511 CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell null http://purl.obolibrary.org/obo/CL_0002511 node EFO_0006277 GM15851 null http://www.ebi.ac.uk/efo/EFO_0006277 node Orphanet_391327 X-linked calvarial hyperostosis null http://www.orpha.net/ORDO/Orphanet_391327 node EFO_0003782 motor neuron disease null http://www.ebi.ac.uk/efo/EFO_0003782 node Orphanet_904 Williams syndrome null http://www.orpha.net/ORDO/Orphanet_904 node CHEBI_545959 homovanillate (HVA) null http://purl.obolibrary.org/obo/CHEBI_545959 node Orphanet_79302 Congenital bile acid synthesis defect type 3 null http://www.orpha.net/ORDO/Orphanet_79302 node MONDO_0003832 complement deficiency null http://purl.obolibrary.org/obo/MONDO_0003832 node EFO_1000981 ileal neoplasm null http://www.ebi.ac.uk/efo/EFO_1000981 node EFO_0001036 obsolete_phyllid null http://www.ebi.ac.uk/efo/EFO_0001036 node HP_0000738 Hallucinations null http://purl.obolibrary.org/obo/HP_0000738 node EFO_0009880 teratogenicity null http://www.ebi.ac.uk/efo/EFO_0009880 node EFO_0000452 obsolete_embryonic dorsal epidermis null http://www.ebi.ac.uk/efo/EFO_0000452 node EFO_1001133 pulmonary coin lesion null http://www.ebi.ac.uk/efo/EFO_1001133 node MONDO_0002176 connective tissue cancer null http://purl.obolibrary.org/obo/MONDO_0002176 node NCBITaxon_30608 Microcebus murinus null http://purl.obolibrary.org/obo/NCBITaxon_30608 node EFO_0009190 Thyrotoxicosis Editor note: TODO separate out predisposition http://www.ebi.ac.uk/efo/EFO_0009190 node EFO_0005563 obsolete_hypercalcemia null http://www.ebi.ac.uk/efo/EFO_0005563 node OGMS_0000063 disease course null http://purl.obolibrary.org/obo/OGMS_0000063 node EFO_0008539 vitamin D dietary intake measurement null http://www.ebi.ac.uk/efo/EFO_0008539 node MONDO_0002013 lymphangioma null http://purl.obolibrary.org/obo/MONDO_0002013 node HP_0006834 Developmental stagnation at onset of seizures null http://purl.obolibrary.org/obo/HP_0006834 node Orphanet_93576 Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly null http://www.orpha.net/ORDO/Orphanet_93576 node EFO_0001738 institution null http://www.ebi.ac.uk/efo/EFO_0001738 node Orphanet_805 Tuberous sclerosis Editor note: TODO check MONDO:0019341; consider placement under neoplastic syndrome http://www.orpha.net/ORDO/Orphanet_805 node Orphanet_314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome null http://www.orpha.net/ORDO/Orphanet_314575 node EFO_0009168 response to prednisolone null http://www.ebi.ac.uk/efo/EFO_0009168 node EFO_1001221 twin-to-twin transfusion syndrome null http://www.ebi.ac.uk/efo/EFO_1001221 node Orphanet_216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation null http://www.orpha.net/ORDO/Orphanet_216729 node EFO_0008146 growth-regulated alpha protein measurement null http://www.ebi.ac.uk/efo/EFO_0008146 node HP_0002110 Bronchiectasis null http://purl.obolibrary.org/obo/HP_0002110 node EFO_0005651 drosophila developmental stage null http://www.ebi.ac.uk/efo/EFO_0005651 node EFO_0004724 carotid-femoral pulse wave velocity null http://www.ebi.ac.uk/efo/EFO_0004724 node EFO_0008627 eye hemorrhage null http://www.ebi.ac.uk/efo/EFO_0008627 node MONDO_0004867 upper respiratory tract disease null http://purl.obolibrary.org/obo/MONDO_0004867 node CHEBI_17865 4-methyl-2-oxopentanoate null http://purl.obolibrary.org/obo/CHEBI_17865 node CHEBI_40410 N-acetylglycine null http://purl.obolibrary.org/obo/CHEBI_40410 node Orphanet_1524 Craniomicromelic syndrome null http://www.orpha.net/ORDO/Orphanet_1524 node GO_0030168 platelet activation null http://purl.obolibrary.org/obo/GO_0030168 node EFO_0000916 obsolete_visual cortex null http://www.ebi.ac.uk/efo/EFO_0000916 node UBERON_2001304 vagal ganglion 3 null http://purl.obolibrary.org/obo/UBERON_2001304 node Orphanet_263793 Uniparental disomy of chromosome X null http://www.orpha.net/ORDO/Orphanet_263793 node MONDO_0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome null http://purl.obolibrary.org/obo/MONDO_0007853 node EFO_0001908 caudal null http://www.ebi.ac.uk/efo/EFO_0001908 node Orphanet_1818 Ectodermal dysplasia, trichoodontoonychial type null http://www.orpha.net/ORDO/Orphanet_1818 node EFO_1000578 Thymic Small Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000578 node HP_0002011 Morphological central nervous system abnormality null http://purl.obolibrary.org/obo/HP_0002011 node GO_0031974 membrane-enclosed lumen null http://purl.obolibrary.org/obo/GO_0031974 node EFO_0010225 lysophosphatidylethanolamine measurement null http://www.ebi.ac.uk/efo/EFO_0010225 node EFO_0000049 CS57641 null http://www.ebi.ac.uk/efo/EFO_0000049 node FBbt_00005508 mushroom body primordium null http://purl.obolibrary.org/obo/FBbt_00005508 node EFO_0010038 Mu-Seq null http://www.ebi.ac.uk/efo/EFO_0010038 node MONDO_0004768 keratoconjunctivitis null http://purl.obolibrary.org/obo/MONDO_0004768 node ZFA_0001273 ventral mandibular arch null http://purl.obolibrary.org/obo/ZFA_0001273 node EFO_0010519 pantothenic acid mesurement null http://www.ebi.ac.uk/efo/EFO_0010519 node CLO_0015098 GM17139 null http://purl.obolibrary.org/obo/CLO_0015098 node MONDO_0043786 serositis null http://purl.obolibrary.org/obo/MONDO_0043786 node MONDO_0041261 disorder of acid-base balance null http://purl.obolibrary.org/obo/MONDO_0041261 node EFO_0005821 ML-DmBG1-c1 null http://www.ebi.ac.uk/efo/EFO_0005821 node MONDO_0021668 disorder involving pain null http://purl.obolibrary.org/obo/MONDO_0021668 node PO_0007036 beginning of whole plant fruit ripening stage null http://purl.obolibrary.org/obo/PO_0007036 node EFO_0010927 proto-oncogene tyrosine-protein kinase Src measurement null http://www.ebi.ac.uk/efo/EFO_0010927 node Orphanet_1425 Desbuquois syndrome null http://www.orpha.net/ORDO/Orphanet_1425 node HP_0009890 High anterior hairline This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead. http://purl.obolibrary.org/obo/HP_0009890 node Orphanet_94125 Recessive mitochondrial ataxia syndrome null http://www.orpha.net/ORDO/Orphanet_94125 node Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency null http://www.orpha.net/ORDO/Orphanet_363543 node EFO_0000137 CS57834 null http://www.ebi.ac.uk/efo/EFO_0000137 node EFO_1000029 gastric adenosquamous carcinoma null http://www.ebi.ac.uk/efo/EFO_1000029 node MONDO_0017017 primary interstitial lung disease specific to childhood due to alveolar vascular disorder null http://purl.obolibrary.org/obo/MONDO_0017017 node EFO_0004459 ferritin measurement null http://www.ebi.ac.uk/efo/EFO_0004459 node EFO_0010126 time to first cigarette measurement null http://www.ebi.ac.uk/efo/EFO_0010126 node MONDO_0010635 hypogonadotropic hypogonadism 1 with or without anosmia null http://purl.obolibrary.org/obo/MONDO_0010635 node EFO_0004020 transgenic null http://www.ebi.ac.uk/efo/EFO_0004020 node EFO_0010607 tumor necrosis factor, receptor superfamily, member 5 measurement null http://www.ebi.ac.uk/efo/EFO_0010607 node Orphanet_55 Oculocutaneous albinism null http://www.orpha.net/ORDO/Orphanet_55 node EFO_0006764 TCC-PAN2 null http://www.ebi.ac.uk/efo/EFO_0006764 node CLO_0016509 GM17816 null http://purl.obolibrary.org/obo/CLO_0016509 node NCBITaxon_32046 Synechococcus elongatus null http://purl.obolibrary.org/obo/NCBITaxon_32046 node MONDO_0054700 proteasome-associated autoinflammatory syndrome 2 null http://purl.obolibrary.org/obo/MONDO_0054700 node EFO_0010828 myofibrillar myopathy 9 with early respiratory failure null http://www.ebi.ac.uk/efo/EFO_0010828 node Orphanet_352298 Genetic muscular channelopathy null http://www.orpha.net/ORDO/Orphanet_352298 node CL_0002476 bone marrow macrophage null http://purl.obolibrary.org/obo/CL_0002476 node CL_0000112 columnar neuron null http://purl.obolibrary.org/obo/CL_0000112 node MONDO_0001576 telangiectasis null http://purl.obolibrary.org/obo/MONDO_0001576 node MONDO_0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency null http://purl.obolibrary.org/obo/MONDO_0010480 node HP_0007455 Adermatoglyphia null http://purl.obolibrary.org/obo/HP_0007455 node CL_0000333 migratory neural crest cell null http://purl.obolibrary.org/obo/CL_0000333 node CL_0000128 oligodendrocyte Oligodendrocytes are reportedly MDP-positive and CD4-negative. http://purl.obolibrary.org/obo/CL_0000128 node HP_0007936 Restrictive external ophthalmoplegia null http://purl.obolibrary.org/obo/HP_0007936 node Orphanet_309337 Lysosomal glycogen storage disease null http://www.orpha.net/ORDO/Orphanet_309337 node MONDO_0001841 uterine corpus epithelioid leiomyoma null http://purl.obolibrary.org/obo/MONDO_0001841 node EFO_0006934 amygdala volume null http://www.ebi.ac.uk/efo/EFO_0006934 node HP_0002590 Paralytic ileus null http://purl.obolibrary.org/obo/HP_0002590 node Orphanet_295211 Humero-radial synostosis, bilateral null http://www.orpha.net/ORDO/Orphanet_295211 node CHEBI_9630 tomatine null http://purl.obolibrary.org/obo/CHEBI_9630 node EFO_0009949 KANNO antigen measurement null http://www.ebi.ac.uk/efo/EFO_0009949 node CHEBI_35591 pregnenolone 16alpha-carbonitrile null http://purl.obolibrary.org/obo/CHEBI_35591 node EFO_0008512 micropapillary urothelial carcinoma null http://www.ebi.ac.uk/efo/EFO_0008512 node CL_0000216 Sertoli cell null http://purl.obolibrary.org/obo/CL_0000216 node NCBITaxon_11588 Rift Valley fever virus null http://purl.obolibrary.org/obo/NCBITaxon_11588 node EFO_0003385 obsolete_stomatogastric nervous system primordium null http://www.ebi.ac.uk/efo/EFO_0003385 node HP_0000325 Triangular face null http://purl.obolibrary.org/obo/HP_0000325 node NCBITaxon_223430 Aquilegia formosa null http://purl.obolibrary.org/obo/NCBITaxon_223430 node EFO_0007408 orbital cancer null http://www.ebi.ac.uk/efo/EFO_0007408 node EFO_0004003 congenic strain null http://www.ebi.ac.uk/efo/EFO_0004003 node EFO_0009743 administrator null http://www.ebi.ac.uk/efo/EFO_0009743 node EFO_0006437 HCC4017 null http://www.ebi.ac.uk/efo/EFO_0006437 node MONDO_0015929 thoracic malformation null http://purl.obolibrary.org/obo/MONDO_0015929 node Orphanet_97548 Ivemark syndrome null http://www.orpha.net/ORDO/Orphanet_97548 node Orphanet_268810 Posterior meningocele null http://www.orpha.net/ORDO/Orphanet_268810 node EFO_0009556 mineral metabolism disease null http://www.ebi.ac.uk/efo/EFO_0009556 node EFO_0007762 gamma-linolenic acid measurement null http://www.ebi.ac.uk/efo/EFO_0007762 node EFO_0006835 pyoderma gangrenosum null http://www.ebi.ac.uk/efo/EFO_0006835 node CHEBI_71201 xanthurenate null http://purl.obolibrary.org/obo/CHEBI_71201 node EFO_0008558 Vancomycin-Resistant Staphylococcus Aureus Infection null http://www.ebi.ac.uk/efo/EFO_0008558 node NCBITaxon_37762 Escherichia coli B null http://purl.obolibrary.org/obo/NCBITaxon_37762 node EFO_0007015 3-hydroxy-1-methylpropylmercapturic acid measurement null http://www.ebi.ac.uk/efo/EFO_0007015 node EFO_0003473 obsolete_floor plate null http://www.ebi.ac.uk/efo/EFO_0003473 node GO_0043400 cortisol secretion null http://purl.obolibrary.org/obo/GO_0043400 node EO_0007105 abscisic acid treatment null http://purl.obolibrary.org/obo/EO_0007105 node Orphanet_88621 Ichthyosis prematurity syndrome null http://www.orpha.net/ORDO/Orphanet_88621 node MONDO_0003710 ovarian mixed germ cell neoplasm null http://purl.obolibrary.org/obo/MONDO_0003710 node EFO_0009644 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy null http://www.ebi.ac.uk/efo/EFO_0009644 node Orphanet_98766 Spinocerebellar ataxia type 5 null http://www.orpha.net/ORDO/Orphanet_98766 node EFO_1000696 erythrasma null http://www.ebi.ac.uk/efo/EFO_1000696 node EFO_0007850 solar lentigines measurement null http://www.ebi.ac.uk/efo/EFO_0007850 node CHEBI_37987 Cy3 dye null http://purl.obolibrary.org/obo/CHEBI_37987 node MONDO_0019304 rare photodermatosis null http://purl.obolibrary.org/obo/MONDO_0019304 node EFO_0010793 programmed death-ligand 1 measurement null http://www.ebi.ac.uk/efo/EFO_0010793 node MONDO_0030043 congenital disorder of glycosylation, type iit null http://purl.obolibrary.org/obo/MONDO_0030043 node CHEBI_64423 phosphatidylcholine 34:4 null http://purl.obolibrary.org/obo/CHEBI_64423 node Orphanet_225123 Hemochromatosis type 3 null http://www.orpha.net/ORDO/Orphanet_225123 node Orphanet_101052 Microlissencephaly type B null http://www.orpha.net/ORDO/Orphanet_101052 node EFO_0009432 fibroblastic disorder null http://www.ebi.ac.uk/efo/EFO_0009432 node EFO_0009245 Neutrophilic Myelocyte Count null http://www.ebi.ac.uk/efo/EFO_0009245 node CLO_0013797 GM17195 null http://purl.obolibrary.org/obo/CLO_0013797 node EFO_1001782 dental pulp exposure null http://www.ebi.ac.uk/efo/EFO_1001782 node Orphanet_2325 Epidermolysis bullosa simplex with anodontia/hypodontia null http://www.orpha.net/ORDO/Orphanet_2325 node EFO_0008704 DamID null http://www.ebi.ac.uk/efo/EFO_0008704 node Orphanet_357064 Autosomal recessive cutis laxa type 2B null http://www.orpha.net/ORDO/Orphanet_357064 node EFO_1000621 Vagus Nerve Paraganglioma null http://www.ebi.ac.uk/efo/EFO_1000621 node EFO_1000140 Borderline Ovarian Surface Epithelial-Stromal Tumor null http://www.ebi.ac.uk/efo/EFO_1000140 node EFO_1000597 Tonsillar Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000597 node EFO_0010881 HG03442 null http://www.ebi.ac.uk/efo/EFO_0010881 node EFO_0003643 obsolete_non neural ectoderm null http://www.ebi.ac.uk/efo/EFO_0003643 node NCBITaxon_285950 Aegilops tauschii x Triticum turgidum null http://purl.obolibrary.org/obo/NCBITaxon_285950 node HP_0012594 Moderate albuminuria null http://purl.obolibrary.org/obo/HP_0012594 node EFO_0002140 COLO829 null http://www.ebi.ac.uk/efo/EFO_0002140 node EFO_0001213 MDAMB435 Was originally considered to be a breast cancer cell line but has since been identified as a melanoma cell line. http://www.ebi.ac.uk/efo/EFO_0001213 node EFO_1000434 Ovarian Stromal Luteoma null http://www.ebi.ac.uk/efo/EFO_1000434 node MONDO_0021945 hearing disorder null http://purl.obolibrary.org/obo/MONDO_0021945 node CLO_0013956 GM17150 null http://purl.obolibrary.org/obo/CLO_0013956 node GO_0023014 signal transduction by phosphorylation null http://purl.obolibrary.org/obo/GO_0023014 node EFO_0005179 Se-0 null http://www.ebi.ac.uk/efo/EFO_0005179 node Orphanet_57 Glycogen storage disease due to aldolase A deficiency null http://www.orpha.net/ORDO/Orphanet_57 node EFO_1000842 Borrelia infectious disease null http://www.ebi.ac.uk/efo/EFO_1000842 node HP_0000219 Thin upper lip vermilion Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. http://purl.obolibrary.org/obo/HP_0000219 node Orphanet_127 Borjeson-Forssman-Lehmann syndrome null http://www.orpha.net/ORDO/Orphanet_127 node EFO_0008311 tumor necrosis factor-inducible gene 6 protein measurement null http://www.ebi.ac.uk/efo/EFO_0008311 node BTO_0000007 HEK-293 cell null http://purl.obolibrary.org/obo/BTO_0000007 node EFO_0003731 obsolete_lung (Homo sapiens) null http://www.ebi.ac.uk/efo/EFO_0003731 node EFO_0000607 obsolete_mouse strain null http://www.ebi.ac.uk/efo/EFO_0000607 node EFO_1000041 nephrosclerosis http://www.britannica.com/science/nephrosclerosis http://www.ebi.ac.uk/efo/EFO_1000041 node CLO_0013082 GM17287 null http://purl.obolibrary.org/obo/CLO_0013082 node EFO_0001301 juvenile days 30-44 null http://www.ebi.ac.uk/efo/EFO_0001301 node EFO_1000522 Secretory Meningioma null http://www.ebi.ac.uk/efo/EFO_1000522 node EFO_0003544 obsolete_torus semicircularis null http://www.ebi.ac.uk/efo/EFO_0003544 node Orphanet_93218 Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis null http://www.orpha.net/ORDO/Orphanet_93218 node CHEBI_27823 5-HIAA null http://purl.obolibrary.org/obo/CHEBI_27823 node EFO_1000930 esophageal diverticulosis null http://www.ebi.ac.uk/efo/EFO_1000930 node EFO_0005267 serum copper measurement null http://www.ebi.ac.uk/efo/EFO_0005267 node UBERON_0001353 anal region null http://purl.obolibrary.org/obo/UBERON_0001353 node CLO_0016684 GM17783 null http://purl.obolibrary.org/obo/CLO_0016684 node NCBITaxon_4537 Oryza punctata null http://purl.obolibrary.org/obo/NCBITaxon_4537 node CHEBI_64158 2-methyl-6-(phenylethynyl)pyridine hydrochloride null http://purl.obolibrary.org/obo/CHEBI_64158 node EFO_0003952 fever of unknown origin null http://www.ebi.ac.uk/efo/EFO_0003952 node CHEBI_73072 O-linoleoylcarnitine null http://purl.obolibrary.org/obo/CHEBI_73072 node CL_0000883 thymic cortical macrophage null http://purl.obolibrary.org/obo/CL_0000883 node Orphanet_68336 Rare genetic tumor null http://www.orpha.net/ORDO/Orphanet_68336 node EFO_0000401 diabetic nephropathy null http://www.ebi.ac.uk/efo/EFO_0000401 node EFO_0002369 SW684 null http://www.ebi.ac.uk/efo/EFO_0002369 node EFO_1000743 obsolete_nonepidermolytic palmoplantar keratoderma null http://www.ebi.ac.uk/efo/EFO_1000743 node Orphanet_408 Isolated glycerol kinase deficiency Editor note: See https://github.com/monarch-initiative/mondo-build/issues/49 http://www.orpha.net/ORDO/Orphanet_408 node Orphanet_308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A null http://www.orpha.net/ORDO/Orphanet_308386 node NCBITaxon_96645 Oscheius dolichuroides null http://purl.obolibrary.org/obo/NCBITaxon_96645 node Orphanet_282124 Partial deletion of chromosome 12 null http://www.orpha.net/ORDO/Orphanet_282124 node EFO_0005512 estrogen receptor status null http://www.ebi.ac.uk/efo/EFO_0005512 node EFO_0000214 obsolete_abdominal skin null http://www.ebi.ac.uk/efo/EFO_0000214 node Orphanet_294944 Congenital deformities of limbs null http://www.orpha.net/ORDO/Orphanet_294944 node Orphanet_1116 Aplasia cutis congenita - intestinal lymphangiectasia null http://www.orpha.net/ORDO/Orphanet_1116 node MONDO_0003346 central nervous system vasculitis null http://purl.obolibrary.org/obo/MONDO_0003346 node Orphanet_269510 Congenital non-communicating hydrocephalus null http://www.orpha.net/ORDO/Orphanet_269510 node EFO_0008000 peak insulin response measurement null http://www.ebi.ac.uk/efo/EFO_0008000 node Orphanet_104077 Myopathic intestinal pseudoobstruction null http://www.orpha.net/ORDO/Orphanet_104077 node MONDO_0000590 autoimmune disease of peripheral nervous system null http://purl.obolibrary.org/obo/MONDO_0000590 node EFO_0007958 genotype effect measurement null http://www.ebi.ac.uk/efo/EFO_0007958 node CL_0000784 plasmacytoid dendritic cell null http://purl.obolibrary.org/obo/CL_0000784 node EFO_0005600 abdominal aortic fatty streak null http://www.ebi.ac.uk/efo/EFO_0005600 node EFO_0000302 obsolete_brain null http://www.ebi.ac.uk/efo/EFO_0000302 node MONDO_0021054 bone sarcoma null http://purl.obolibrary.org/obo/MONDO_0021054 node Orphanet_183770 Rare genetic immune disease null http://www.orpha.net/ORDO/Orphanet_183770 node EFO_0005413 joint damage measurement null http://www.ebi.ac.uk/efo/EFO_0005413 node Orphanet_404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome null http://www.orpha.net/ORDO/Orphanet_404476 node MONDO_0004331 bladder urachal adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0004331 node MONDO_0030603 Klebsiella infectious disease null http://purl.obolibrary.org/obo/MONDO_0030603 node EFO_0007565 tag protein fusion library null http://www.ebi.ac.uk/efo/EFO_0007565 node MONDO_0100022 neonatal/infantile epilepsy syndrome This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. http://purl.obolibrary.org/obo/MONDO_0100022 node Orphanet_261811 Partial deletion of chromosome 10 null http://www.orpha.net/ORDO/Orphanet_261811 node EFO_0007378 mucinous cystadenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0007378 node EFO_0004022 reciprocal translocation null http://www.ebi.ac.uk/efo/EFO_0004022 node EFO_0001295 gastrula germ-ring null http://www.ebi.ac.uk/efo/EFO_0001295 node EFO_1001316 Eosinophilia-Myalgia Syndrome null http://www.ebi.ac.uk/efo/EFO_1001316 node CHEBI_46024 trichostatin A null http://purl.obolibrary.org/obo/CHEBI_46024 node Orphanet_307141 Diffuse palmoplantar keratoderma null http://www.orpha.net/ORDO/Orphanet_307141 node UBERON_0003123 pharyngeal arch artery 6 null http://purl.obolibrary.org/obo/UBERON_0003123 node EFO_0007466 retroperitoneal cancer null http://www.ebi.ac.uk/efo/EFO_0007466 node MONDO_0030912 intellectual disability, autosomal dominant 47 null http://purl.obolibrary.org/obo/MONDO_0030912 node Orphanet_2818 Spastic paraplegia - glaucoma - intellectual disability null http://www.orpha.net/ORDO/Orphanet_2818 node EFO_0004408 Theiler stage 18 null http://www.ebi.ac.uk/efo/EFO_0004408 node EFO_0000518 obsolete_glial cell (sensu Vertebrata) null http://www.ebi.ac.uk/efo/EFO_0000518 node CHEBI_38147 cardiotonic drug null http://purl.obolibrary.org/obo/CHEBI_38147 node EFO_0007272 filarial elephantiasis null http://www.ebi.ac.uk/efo/EFO_0007272 node EFO_0002810 1205-Lu null http://www.ebi.ac.uk/efo/EFO_0002810 node EFO_0007067 decubitus ulcer null http://www.ebi.ac.uk/efo/EFO_0007067 node EFO_0006713 OCI-M2 null http://www.ebi.ac.uk/efo/EFO_0006713 node MONDO_0007268 hypertrophic cardiomyopathy 4 null http://purl.obolibrary.org/obo/MONDO_0007268 node EFO_0006526 pack-years measurement null http://www.ebi.ac.uk/efo/EFO_0006526 node NCBITaxon_6239 Caenorhabditis elegans null http://purl.obolibrary.org/obo/NCBITaxon_6239 node HP_0001891 Iron deficiency anemia null http://purl.obolibrary.org/obo/HP_0001891 node Orphanet_370088 Acute infantile liver failure-multisystemic involvement syndrome null http://www.orpha.net/ORDO/Orphanet_370088 node Orphanet_2295 Ehlers-Danlos syndrome type 11 null http://www.orpha.net/ORDO/Orphanet_2295 node EFO_0003878 urethritis null http://www.ebi.ac.uk/efo/EFO_0003878 node CHEBI_82916 3-(1H-indol-3-yl)propanoate null http://purl.obolibrary.org/obo/CHEBI_82916 node CHEBI_1224 2-nitrofluorene null http://purl.obolibrary.org/obo/CHEBI_1224 node EFO_0000881 obsolete_digit null http://www.ebi.ac.uk/efo/EFO_0000881 node HP_0001558 Decreased fetal movement null http://purl.obolibrary.org/obo/HP_0001558 node EFO_0006320 antidepressant-induced side effect null http://www.ebi.ac.uk/efo/EFO_0006320 node MONDO_0024664 hypertension, pregnancy-induced null http://purl.obolibrary.org/obo/MONDO_0024664 node EFO_0008082 chemokine (C-C motif) ligand 27 measurement null http://www.ebi.ac.uk/efo/EFO_0008082 node EFO_0007155 ascaridiasis null http://www.ebi.ac.uk/efo/EFO_0007155 node Orphanet_98644 Cataract associated with a metabolic disease null http://www.orpha.net/ORDO/Orphanet_98644 node HP_0001956 Truncal obesity null http://purl.obolibrary.org/obo/HP_0001956 node EFO_0006614 KMS-21-BM null http://www.ebi.ac.uk/efo/EFO_0006614 node Orphanet_54247 Posterior cortical atrophy null http://www.orpha.net/ORDO/Orphanet_54247 node Orphanet_98938 Colobomatous microphthalmia null http://www.orpha.net/ORDO/Orphanet_98938 node MONDO_0008277 stomach polyp Editor note: consider splitting polyposis from polyp http://purl.obolibrary.org/obo/MONDO_0008277 node EFO_0010484 glucose-1-phosphate measurement null http://www.ebi.ac.uk/efo/EFO_0010484 node CL_0000885 gut-associated lymphoid tissue macrophage null http://purl.obolibrary.org/obo/CL_0000885 node Orphanet_93172 Unilateral renal dysplasia null http://www.orpha.net/ORDO/Orphanet_93172 node UBERON_2001297 vagal placode 1 null http://purl.obolibrary.org/obo/UBERON_2001297 node Orphanet_1390 Night blindness - skeletal anomalies - dysmorphism null http://www.orpha.net/ORDO/Orphanet_1390 node HP_0003115 Abnormal EKG null http://purl.obolibrary.org/obo/HP_0003115 node Orphanet_1871 Progressive cone dystrophy null http://www.orpha.net/ORDO/Orphanet_1871 node EFO_0001366 obsolete_dentate gyrus null http://www.ebi.ac.uk/efo/EFO_0001366 node EFO_0009141 fgfr2 related craniosynostosis null http://www.ebi.ac.uk/efo/EFO_0009141 node EFO_0000782 Hibiscus chlorotic ringspot virus infection null http://www.ebi.ac.uk/efo/EFO_0000782 node EFO_0008170 interleukin 12 receptor subunit beta-1 measurement null http://www.ebi.ac.uk/efo/EFO_0008170 node EFO_0007243 Ebola hemorrhagic fever null http://www.ebi.ac.uk/efo/EFO_0007243 node Orphanet_369873 Obesity due to SIM1 deficiency null http://www.orpha.net/ORDO/Orphanet_369873 node EFO_0001774 quality control testing design null http://www.ebi.ac.uk/efo/EFO_0001774 node Orphanet_799 Schizencephaly null http://www.orpha.net/ORDO/Orphanet_799 node Orphanet_314689 Combined immunodeficiency due to STK4 deficiency null http://www.orpha.net/ORDO/Orphanet_314689 node Orphanet_261893 Partial deletion of the short arm of chromosome 5 null http://www.orpha.net/ORDO/Orphanet_261893 node EFO_0003334 Drosophila component null http://www.ebi.ac.uk/efo/EFO_0003334 node EFO_0008391 erythropoetin measurement null http://www.ebi.ac.uk/efo/EFO_0008391 node Orphanet_2471 McDonough syndrome null http://www.orpha.net/ORDO/Orphanet_2471 node CL_0000973 IgA memory B cell IgA memory B cell are also reportedly RORalpha-positive. http://purl.obolibrary.org/obo/CL_0000973 node Orphanet_75563 X-linked sideroblastic anemia null http://www.orpha.net/ORDO/Orphanet_75563 node Orphanet_139578 Hereditary sensory and autonomic neuropathy with spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_139578 node EFO_0009024 Bardet-Biedl syndrome 4 null http://www.ebi.ac.uk/efo/EFO_0009024 node CHEBI_63039 caesium chloride null http://purl.obolibrary.org/obo/CHEBI_63039 node Orphanet_906 Wiskott-Aldrich syndrome null http://www.orpha.net/ORDO/Orphanet_906 node Orphanet_887 VACTERL/VATER association null http://www.orpha.net/ORDO/Orphanet_887 node Orphanet_163988 Developmental delay - deafness, Hildebrand type null http://www.orpha.net/ORDO/Orphanet_163988 node EFO_0009434 death by undetermined cause null http://www.ebi.ac.uk/efo/EFO_0009434 node MONDO_0044304 hyperphenylalaninemia due to DNAJC12 deficiency null http://purl.obolibrary.org/obo/MONDO_0044304 node Orphanet_216 Neuronal ceroid lipofuscinosis null http://www.orpha.net/ORDO/Orphanet_216 node Orphanet_93276 Polyostotic fibrous dysplasia null http://www.orpha.net/ORDO/Orphanet_93276 node EFO_0009247 Ovalocyte Count null http://www.ebi.ac.uk/efo/EFO_0009247 node CL_0000580 neutrophilic myelocyte These cells are also CD15-positive, CD35-negative, CD49d-positive, and fMLP receptor-negative. They are found in the Band 2 fraction. http://purl.obolibrary.org/obo/CL_0000580 node EFO_0003422 obsolete_polster null http://www.ebi.ac.uk/efo/EFO_0003422 node Orphanet_261344 Trisomy 1q null http://www.orpha.net/ORDO/Orphanet_261344 node Orphanet_166260 Dentinogenesis imperfecta type 2 null http://www.orpha.net/ORDO/Orphanet_166260 node EFO_0004184 nucleic acid library construction protocol null http://www.ebi.ac.uk/efo/EFO_0004184 node GO_0006954 inflammatory response replaces previous MeSH derived class, inflammation. http://purl.obolibrary.org/obo/GO_0006954 node EFO_0002390 WM115 null http://www.ebi.ac.uk/efo/EFO_0002390 node HP_0006919 Abnormal aggressive, impulsive or violent behavior null http://purl.obolibrary.org/obo/HP_0006919 node NCBITaxon_42374 Candida dubliniensis null http://purl.obolibrary.org/obo/NCBITaxon_42374 node CLO_0013173 GM17262 null http://purl.obolibrary.org/obo/CLO_0013173 node PO_0006339 juvenile vascular leaf [BTO's definition] Distinct from adult leaves, being characterized by particular anatomical traits namely, wax and trichome distribution, presence or absence of epidermal cell types, cell wall shape and biochemistry. The first juvenile leaves are e.g. the embryonic leaves found in the grass kernel (caryopsis). http://purl.obolibrary.org/obo/PO_0006339 node Orphanet_289539 BAP1-related tumor predisposition syndrome null http://www.orpha.net/ORDO/Orphanet_289539 node Orphanet_171836 Amelogenesis imperfecta and gingival hyperplasia syndrome null http://www.orpha.net/ORDO/Orphanet_171836 node EFO_1001385 Paralysis, Obstetric null http://www.ebi.ac.uk/efo/EFO_1001385 node Orphanet_99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B null http://www.orpha.net/ORDO/Orphanet_99936 node Orphanet_304 Epidermolysis bullosa simplex null http://www.orpha.net/ORDO/Orphanet_304 node EFO_1001866 ventral hernia null http://www.ebi.ac.uk/efo/EFO_1001866 node EFO_0004888 post operative nausea and vomiting null http://www.ebi.ac.uk/efo/EFO_0004888 node EFO_0009335 white matter growth measurement null http://www.ebi.ac.uk/efo/EFO_0009335 node EFO_0000998 plant reproductive system structure null http://www.ebi.ac.uk/efo/EFO_0000998 node NCBITaxon_39491 Eubacterium rectale null http://purl.obolibrary.org/obo/NCBITaxon_39491 node EFO_0010378 phosphatidylcholine 34:4 measurement null http://www.ebi.ac.uk/efo/EFO_0010378 node EFO_0004272 anemia (phenotype) null http://www.ebi.ac.uk/efo/EFO_0004272 node EFO_0010859 HG02981 null http://www.ebi.ac.uk/efo/EFO_0010859 node GO_0042455 ribonucleoside biosynthetic process null http://purl.obolibrary.org/obo/GO_0042455 node MONDO_0044919 malignant renal pelvis neoplasm null http://purl.obolibrary.org/obo/MONDO_0044919 node UBERON_0001132 parathyroid gland null http://purl.obolibrary.org/obo/UBERON_0001132 node MONDO_0016721 pineal tumor of neuroepithelial tissue null http://purl.obolibrary.org/obo/MONDO_0016721 node EFO_1001473 Non-familial restrictive cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_1001473 node CHEBI_5870 imidacloprid null http://purl.obolibrary.org/obo/CHEBI_5870 node EFO_1000369 Melanocytoma of the Eyeball null http://www.ebi.ac.uk/efo/EFO_1000369 node FBbt_00001956 optic nerve null http://purl.obolibrary.org/obo/FBbt_00001956 node EFO_1001286 Caroli Disease null http://www.ebi.ac.uk/efo/EFO_1001286 node NCBITaxon_35787 Lactobacillus pontis null http://purl.obolibrary.org/obo/NCBITaxon_35787 node CHEBI_35176 zinc sulfate null http://purl.obolibrary.org/obo/CHEBI_35176 node CHEBI_28593 quinidine null http://purl.obolibrary.org/obo/CHEBI_28593 node Orphanet_3102 Richieri Costa-Pereira syndrome null http://www.orpha.net/ORDO/Orphanet_3102 node Orphanet_247353 Generalized pustular psoriasis null http://www.orpha.net/ORDO/Orphanet_247353 node Orphanet_2067 GAPO syndrome null http://www.orpha.net/ORDO/Orphanet_2067 node UBERON_0001033 gustatory system null http://purl.obolibrary.org/obo/UBERON_0001033 node NCIT_C74532 nervousness null http://purl.obolibrary.org/obo/NCIT_C74532 node NCBITaxon_29706 Spartina alterniflora null http://purl.obolibrary.org/obo/NCBITaxon_29706 node EFO_0005906 B-cell non-Hodgkin lymphoma cell line null http://www.ebi.ac.uk/efo/EFO_0005906 node HP_0012444 Brain atrophy null http://purl.obolibrary.org/obo/HP_0012444 node EFO_0006322 antidepressant-induced sexual dysfunction null http://www.ebi.ac.uk/efo/EFO_0006322 node Orphanet_276422 10q22.3q23.3 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_276422 node CLO_0016456 GM17846 null http://purl.obolibrary.org/obo/CLO_0016456 node Orphanet_2572 Spastic ataxia - corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_2572 node Orphanet_229720 Syndromic agammaglobulinemia null http://www.orpha.net/ORDO/Orphanet_229720 node Orphanet_2155 Hirschsprung disease - deafness - polydactyly null http://www.orpha.net/ORDO/Orphanet_2155 node PO_0003023 root nodule null http://purl.obolibrary.org/obo/PO_0003023 node MONDO_0010256 intellectual disability, X-linked 21 null http://purl.obolibrary.org/obo/MONDO_0010256 node EFO_0003058 obsolete_NCIH460 null http://www.ebi.ac.uk/efo/EFO_0003058 node MONDO_0002882 colon neuroendocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0002882 node Orphanet_2980 Acro-oto-ocular syndrome null http://www.orpha.net/ORDO/Orphanet_2980 node Orphanet_263543 Generalized peeling skin syndrome null http://www.orpha.net/ORDO/Orphanet_263543 node MONDO_0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma null http://purl.obolibrary.org/obo/MONDO_0011581 node EFO_0006410 G61 null http://www.ebi.ac.uk/efo/EFO_0006410 node EFO_0000110 obsolete_spinal cord null http://www.ebi.ac.uk/efo/EFO_0000110 node CL_0002361 primitive erythroid progenitor null http://purl.obolibrary.org/obo/CL_0002361 node EFO_0010531 S-adenosylhomocysteine measurement null http://www.ebi.ac.uk/efo/EFO_0010531 node Orphanet_324307 Severe lateral tibial bowing with short stature null http://www.orpha.net/ORDO/Orphanet_324307 node EFO_0005221 cholangiocarcinoma null http://www.ebi.ac.uk/efo/EFO_0005221 node Orphanet_262658 Partial trisomy/tetrasomy of the short arm of chromosome 12 null http://www.orpha.net/ORDO/Orphanet_262658 node Orphanet_247827 Ectodermal dysplasia - cutaneous syndactyly syndrome null http://www.orpha.net/ORDO/Orphanet_247827 node NCBITaxon_11631 Tacaribe virus null http://purl.obolibrary.org/obo/NCBITaxon_11631 node Orphanet_772 Infantile Refsum disease null http://www.orpha.net/ORDO/Orphanet_772 node MONDO_0018515 squamous cell carcinoma of rectum null http://purl.obolibrary.org/obo/MONDO_0018515 node MONDO_0021003 polydactyly (disease) null http://purl.obolibrary.org/obo/MONDO_0021003 node Orphanet_98797 Isochromosomy Yp null http://www.orpha.net/ORDO/Orphanet_98797 node EO_0007357 biotic plant treatment null http://purl.obolibrary.org/obo/EO_0007357 node Orphanet_3220 Deafness - enamel hypoplasia - nail defects null http://www.orpha.net/ORDO/Orphanet_3220 node CHEBI_30807 tetradecanoate null http://purl.obolibrary.org/obo/CHEBI_30807 node EFO_0008509 lobular breast carcinoma null http://www.ebi.ac.uk/efo/EFO_0008509 node EFO_0005104 obsolete_eye disc null http://www.ebi.ac.uk/efo/EFO_0005104 node CLO_0016521 GM17828 null http://purl.obolibrary.org/obo/CLO_0016521 node Orphanet_85330 X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis null http://www.orpha.net/ORDO/Orphanet_85330 node EFO_0008917 obsolete_SELEX null http://www.ebi.ac.uk/efo/EFO_0008917 node EFO_0008898 RNET-seq null http://www.ebi.ac.uk/efo/EFO_0008898 node MONDO_0024355 respiratory tract infectious disease null http://purl.obolibrary.org/obo/MONDO_0024355 node CHEBI_24431 chemical entity null http://purl.obolibrary.org/obo/CHEBI_24431 node HP_0000952 Jaundice null http://purl.obolibrary.org/obo/HP_0000952 node Orphanet_860 Congenitally uncorrected transposition of the great arteries null http://www.orpha.net/ORDO/Orphanet_860 node MONDO_0015572 cerebral malformation due to abnormal neuronal migration Editor note: named as non-syndromic in ORDO, but we rename for consistency, see https://github.com/monarch-initiative/mondo-build/issues/58 http://purl.obolibrary.org/obo/MONDO_0015572 node EFO_0008303 transmembrane glycoprotein NMB measurement null http://www.ebi.ac.uk/efo/EFO_0008303 node EFO_0001934 obsolete_vomeronasal organ null http://www.ebi.ac.uk/efo/EFO_0001934 node CLO_0036460 GM06944 null http://purl.obolibrary.org/obo/CLO_0036460 node EFO_1000647 renal tubular transport disease null http://www.ebi.ac.uk/efo/EFO_1000647 node EFO_0007069 3134 null http://www.ebi.ac.uk/efo/EFO_0007069 node UBERON_0006618 atrium auricular region null http://purl.obolibrary.org/obo/UBERON_0006618 node EFO_0008116 EGF-like module-containing mucin-like hormone receptor-like 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008116 node EFO_0001244 SUM225CWN null http://www.ebi.ac.uk/efo/EFO_0001244 node Orphanet_3121 Ruvalcaba syndrome null http://www.orpha.net/ORDO/Orphanet_3121 node MONDO_0009440 ichthyosiform erythroderma, corneal involvement, and deafness null http://purl.obolibrary.org/obo/MONDO_0009440 node MONDO_0032917 deafness, autosomal dominant 76 null http://purl.obolibrary.org/obo/MONDO_0032917 node Orphanet_88618 Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency null http://www.orpha.net/ORDO/Orphanet_88618 node Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_99739 node Orphanet_207015 Rare hereditary disease with peripheral neuropathy null http://www.orpha.net/ORDO/Orphanet_207015 node CHEBI_85741 triacylglycerol 54:5 null http://purl.obolibrary.org/obo/CHEBI_85741 node BTO_0000164 Burkitt lymphoma cell null http://purl.obolibrary.org/obo/BTO_0000164 node EFO_1000254 Fibroadenoma null http://www.ebi.ac.uk/efo/EFO_1000254 node EFO_1000735 miliaria rubra null http://www.ebi.ac.uk/efo/EFO_1000735 node EFO_0007157 aspergillosis null http://www.ebi.ac.uk/efo/EFO_0007157 node EFO_0008204 left ventricular diastolic function measurement null http://www.ebi.ac.uk/efo/EFO_0008204 node UBERON_0002542 scale null http://purl.obolibrary.org/obo/UBERON_0002542 node OBI_0200071 loess transformation null http://purl.obolibrary.org/obo/OBI_0200071 node PO_0000014 rosette leaf null http://purl.obolibrary.org/obo/PO_0000014 node Orphanet_274 Bernard-Soulier syndrome null http://www.orpha.net/ORDO/Orphanet_274 node EFO_0002094 1A2 null http://www.ebi.ac.uk/efo/EFO_0002094 node UO_0000209 deciliter null http://purl.obolibrary.org/obo/UO_0000209 node NCBITaxon_623 Shigella flexneri null http://purl.obolibrary.org/obo/NCBITaxon_623 node MONDO_0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome null http://purl.obolibrary.org/obo/MONDO_0008828 node CL_0002046 early pro-B cell Markers are commonly associated with human cells. These cells are also reportedly CD21-negative. Transcription factors: PU.1-positive, Ikaros-positive, E2A-positive, and PAX5-positive. http://purl.obolibrary.org/obo/CL_0002046 node FBbt_00005422 amnioserosa anlage in statu nascendi null http://purl.obolibrary.org/obo/FBbt_00005422 node EFO_0009833 kidney injury null http://www.ebi.ac.uk/efo/EFO_0009833 node EFO_0000908 obsolete_central nervous system null http://www.ebi.ac.uk/efo/EFO_0000908 node EFO_1000342 Lymphoplasmacyte-Rich Meningioma null http://www.ebi.ac.uk/efo/EFO_1000342 node EFO_1000137 Borderline Ovarian Endometrioid Tumor null http://www.ebi.ac.uk/efo/EFO_1000137 node EFO_0002798 NB4 null http://www.ebi.ac.uk/efo/EFO_0002798 node HP_0001507 Growth abnormality null http://purl.obolibrary.org/obo/HP_0001507 node MONDO_0016096 malignant non-dysgerminomatous germ cell tumor of ovary null http://purl.obolibrary.org/obo/MONDO_0016096 node MONDO_0020590 mycobacterial infectious disease null http://purl.obolibrary.org/obo/MONDO_0020590 node NCBITaxon_310453 Neofusicoccum parvum null http://purl.obolibrary.org/obo/NCBITaxon_310453 node HP_0000478 Abnormality of the eye null http://purl.obolibrary.org/obo/HP_0000478 node HP_0032016 Abnormal sputum null http://purl.obolibrary.org/obo/HP_0032016 node EFO_1000839 bladder calculus null http://www.ebi.ac.uk/efo/EFO_1000839 node Orphanet_709 Peters plus syndrome null http://www.orpha.net/ORDO/Orphanet_709 node Orphanet_3337 Primary Fanconi syndrome null http://www.orpha.net/ORDO/Orphanet_3337 node FBbt_00005510 antennal primordium null http://purl.obolibrary.org/obo/FBbt_00005510 node EFO_0010936 SDS-PAGE null http://www.ebi.ac.uk/efo/EFO_0010936 node EFO_1000225 Duodenal Villous Adenoma null http://www.ebi.ac.uk/efo/EFO_1000225 node CL_0000834 neutrophil progenitor cell null http://purl.obolibrary.org/obo/CL_0000834 node EFO_0004579 serum IgE measurement null http://www.ebi.ac.uk/efo/EFO_0004579 node EFO_0009026 Bardet-Biedl syndrome 7 null http://www.ebi.ac.uk/efo/EFO_0009026 node EFO_0005626 pancolitis null http://www.ebi.ac.uk/efo/EFO_0005626 node EFO_0003728 obsolete_kidney (Rattus rattus) null http://www.ebi.ac.uk/efo/EFO_0003728 node EFO_0000809 obsolete_animal reproductive system null http://www.ebi.ac.uk/efo/EFO_0000809 node HP_0000085 Horseshoe kidney null http://purl.obolibrary.org/obo/HP_0000085 node NCBITaxon_33903 Streptomyces avermitilis null http://purl.obolibrary.org/obo/NCBITaxon_33903 node MONDO_0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination null http://purl.obolibrary.org/obo/MONDO_0044306 node Orphanet_99013 Autosomal recessive spastic paraplegia type 7 null http://www.orpha.net/ORDO/Orphanet_99013 node EFO_0000660 polycystic ovary syndrome null http://www.ebi.ac.uk/efo/EFO_0000660 node EFO_1000927 obsolete_Erysipelothrix infectious disease null http://www.ebi.ac.uk/efo/EFO_1000927 node EFO_1001164 SAPHO syndrome null http://www.ebi.ac.uk/efo/EFO_1001164 node EFO_0004186 Deoxyribonuclease digestion null http://www.ebi.ac.uk/efo/EFO_0004186 node CL_0000922 type II NK T cell null http://purl.obolibrary.org/obo/CL_0000922 node EFO_0004667 biological variation design null http://www.ebi.ac.uk/efo/EFO_0004667 node EFO_0000296 obsolete_blood null http://www.ebi.ac.uk/efo/EFO_0000296 node EFO_0002512 obsolete_supranuclear palsy, progressive null http://www.ebi.ac.uk/efo/EFO_0002512 node EFO_0005714 LHCN-M2 null http://www.ebi.ac.uk/efo/EFO_0005714 node EFO_0005509 L4 larva null http://www.ebi.ac.uk/efo/EFO_0005509 node EFO_1002024 streptococcal pharyngitis null http://www.ebi.ac.uk/efo/EFO_1002024 node Orphanet_163937 X-linked intellectual disability, Najm type null http://www.orpha.net/ORDO/Orphanet_163937 node Orphanet_352577 Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency null http://www.orpha.net/ORDO/Orphanet_352577 node OBI_0400118 vortexer null http://purl.obolibrary.org/obo/OBI_0400118 node EFO_0004274 gout null http://www.ebi.ac.uk/efo/EFO_0004274 node CHEBI_35341 steroid null http://purl.obolibrary.org/obo/CHEBI_35341 node MONDO_0000587 autoimmune disease of ear, nose and throat Editor note: ENT typically excludes eye, but the DOID class includes this http://purl.obolibrary.org/obo/MONDO_0000587 node MONDO_0021238 cornea neoplasm null http://purl.obolibrary.org/obo/MONDO_0021238 node EFO_0000384 Crohn's disease null http://www.ebi.ac.uk/efo/EFO_0000384 node MONDO_0017264 syndromic recessive X-linked ichthyosis null http://purl.obolibrary.org/obo/MONDO_0017264 node EFO_0000403 diffuse large B-cell lymphoma null http://www.ebi.ac.uk/efo/EFO_0000403 node EFO_1001065 normal pressure hydrocephalus null http://www.ebi.ac.uk/efo/EFO_1001065 node EFO_0004087 GR1307 null http://www.ebi.ac.uk/efo/EFO_0004087 node MONDO_0000995 familial periodic paralysis null http://purl.obolibrary.org/obo/MONDO_0000995 node EFO_0006518 response to losartan null http://www.ebi.ac.uk/efo/EFO_0006518 node EFO_0000190 obsolete_lymphoblastic leukemia MOLT-4 null http://www.ebi.ac.uk/efo/EFO_0000190 node EFO_0006739 PSN1 null http://www.ebi.ac.uk/efo/EFO_0006739 node Orphanet_309162 Sandhoff disease, juvenile form null http://www.orpha.net/ORDO/Orphanet_309162 node Orphanet_488613 global developmental delay - neuro-ophthalmological abnormalities - seizures - intellectual disability syndrome null http://www.orpha.net/ORDO/Orphanet_488613 node Orphanet_1368 Cataract - ataxia - deafness null http://www.orpha.net/ORDO/Orphanet_1368 node MONDO_0019271 acrokeratoderma null http://purl.obolibrary.org/obo/MONDO_0019271 node Orphanet_75501 Ehlers-Danlos syndrome, fibronectinemic type null http://www.orpha.net/ORDO/Orphanet_75501 node UBERON_0000992 ovary null http://purl.obolibrary.org/obo/UBERON_0000992 node Orphanet_79143 Congenital anonychia null http://www.orpha.net/ORDO/Orphanet_79143 node EFO_0010069 nerve conduction velocity null http://www.ebi.ac.uk/efo/EFO_0010069 node EFO_0008295 T-lymphocyte surface antigen Ly-9 measurement null http://www.ebi.ac.uk/efo/EFO_0008295 node EFO_0007931 non-HDL cholesterol:HDL cholesterol ratio null http://www.ebi.ac.uk/efo/EFO_0007931 node UO_0000073 femtomolar null http://purl.obolibrary.org/obo/UO_0000073 node Orphanet_79447 X-linked lethal multiple pterygium syndrome null http://www.orpha.net/ORDO/Orphanet_79447 node EFO_0007754 response to immunochemotherapy null http://www.ebi.ac.uk/efo/EFO_0007754 node MONDO_0013972 Perrault syndrome 2 null http://purl.obolibrary.org/obo/MONDO_0013972 node MONDO_0002661 uveal disease null http://purl.obolibrary.org/obo/MONDO_0002661 node EFO_0006827 renin–angiotensin–aldosterone system measurement null http://www.ebi.ac.uk/efo/EFO_0006827 node HP_0001987 Hyperammonemia null http://purl.obolibrary.org/obo/HP_0001987 node CHEBI_78990 (10Z)-heptadecenoate null http://purl.obolibrary.org/obo/CHEBI_78990 node MONDO_0045020 glycine metabolism disease null http://purl.obolibrary.org/obo/MONDO_0045020 node CHEBI_17202 IMP null http://purl.obolibrary.org/obo/CHEBI_17202 node CHEBI_34988 sulmazole null http://purl.obolibrary.org/obo/CHEBI_34988 node NCBITaxon_286784 Salmonella enterica subsp. enterica serovar Emek null http://purl.obolibrary.org/obo/NCBITaxon_286784 node MONDO_0003901 cerebellar hemangioblastoma null http://purl.obolibrary.org/obo/MONDO_0003901 node GO_0043232 intracellular non-membrane-bounded organelle null http://purl.obolibrary.org/obo/GO_0043232 node EFO_0010157 sucrose liking measurement null http://www.ebi.ac.uk/efo/EFO_0010157 node EFO_0008383 treatment outcome measurement null http://www.ebi.ac.uk/efo/EFO_0008383 node Orphanet_208513 Spinocerebellar ataxia type 29 null http://www.orpha.net/ORDO/Orphanet_208513 node CL_0000558 reticulocyte null http://purl.obolibrary.org/obo/CL_0000558 node MONDO_0008093 nevus, epidermal null http://purl.obolibrary.org/obo/MONDO_0008093 node EFO_0008196 kallistatin measurement null http://www.ebi.ac.uk/efo/EFO_0008196 node EFO_0007842 chin morphology measurement null http://www.ebi.ac.uk/efo/EFO_0007842 node Orphanet_551 MERRF null http://www.orpha.net/ORDO/Orphanet_551 node EFO_0008781 ini-seq null http://www.ebi.ac.uk/efo/EFO_0008781 node Orphanet_140952 Syndactyly - telecanthus - anogenital and renal malformations null http://www.orpha.net/ORDO/Orphanet_140952 node UBERON_0000045 ganglion null http://purl.obolibrary.org/obo/UBERON_0000045 node EFO_0007655 clusterin measurement null http://www.ebi.ac.uk/efo/EFO_0007655 node Orphanet_156638 Rare genetic endocrine disease null http://www.orpha.net/ORDO/Orphanet_156638 node Orphanet_98974 Fuchs endothelial corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98974 node Orphanet_2521 Microcephaly - cleft palate null http://www.orpha.net/ORDO/Orphanet_2521 node EFO_0002594 proximal renal artery null http://www.ebi.ac.uk/efo/EFO_0002594 node EFO_0002389 WIDR null http://www.ebi.ac.uk/efo/EFO_0002389 node Orphanet_93268 Short rib-polydactyly syndrome, Beemer-Langer type null http://www.orpha.net/ORDO/Orphanet_93268 node CLO_0010521 GM08388 null http://purl.obolibrary.org/obo/CLO_0010521 node EFO_1000793 Actinobacillus infectious disease null http://www.ebi.ac.uk/efo/EFO_1000793 node EFO_1000812 anterolateral myocardial infarction Editor note: todo - create uberon class http://www.ebi.ac.uk/efo/EFO_1000812 node EFO_1000426 Ovarian Sclerosing Stromal Tumor null http://www.ebi.ac.uk/efo/EFO_1000426 node EFO_0003448 obsolete_presumptive rhombomere 6 null http://www.ebi.ac.uk/efo/EFO_0003448 node HP_0004421 Elevated systolic blood pressure Normal systolic blood pressure is less than 120 mmHg in adults. http://purl.obolibrary.org/obo/HP_0004421 node NCBITaxon_11070 Dengue virus 4 null http://purl.obolibrary.org/obo/NCBITaxon_11070 node Orphanet_721 Gray platelet syndrome null http://www.orpha.net/ORDO/Orphanet_721 node HP_0001128 Trichiasis Eyelash inversion. http://purl.obolibrary.org/obo/HP_0001128 node Orphanet_412206 Primary failure of tooth eruption null http://www.orpha.net/ORDO/Orphanet_412206 node HP_0000157 Abnormality of the tongue null http://purl.obolibrary.org/obo/HP_0000157 node NCBITaxon_64471 Synechococcus sp. CC9311 null http://purl.obolibrary.org/obo/NCBITaxon_64471 node EFO_0002875 WM793-P2N1 null http://www.ebi.ac.uk/efo/EFO_0002875 node EFO_1000900 discitis null http://www.ebi.ac.uk/efo/EFO_1000900 node EFO_0009548 fallopian tube disease null http://www.ebi.ac.uk/efo/EFO_0009548 node EFO_0004640 haptoglobin measurement null http://www.ebi.ac.uk/efo/EFO_0004640 node EFO_1000033 obsolete_hydrolethalus syndrome null http://www.ebi.ac.uk/efo/EFO_1000033 node EFO_0004463 angiotensin converting enzyme activity measurement null http://www.ebi.ac.uk/efo/EFO_0004463 node EFO_0003536 obsolete_hyoid muscle null http://www.ebi.ac.uk/efo/EFO_0003536 node CLO_0014953 GM17116 null http://purl.obolibrary.org/obo/CLO_0014953 node Orphanet_319640 Retinal macular dystrophy type 2 null http://www.orpha.net/ORDO/Orphanet_319640 node FBbt_00001433 embryonic ganglion mother cell null http://purl.obolibrary.org/obo/FBbt_00001433 node EFO_0003890 drug dependence null http://www.ebi.ac.uk/efo/EFO_0003890 node EFO_0002963 nervous system cell null http://www.ebi.ac.uk/efo/EFO_0002963 node Orphanet_622 Homocystinuria without methylmalonic aciduria null http://www.orpha.net/ORDO/Orphanet_622 node HANCESTRO_0566 undefined ancestry population null http://purl.obolibrary.org/obo/HANCESTRO_0566 node HP_0003117 Abnormal circulating hormone level null http://purl.obolibrary.org/obo/HP_0003117 node UBERON_0001158 descending colon null http://purl.obolibrary.org/obo/UBERON_0001158 node EFO_0009636 cesarean section null http://www.ebi.ac.uk/efo/EFO_0009636 node MONDO_0015157 human herpesvirus 8-related tumor Editor note: TODO check this http://purl.obolibrary.org/obo/MONDO_0015157 node EFO_0004523 obsolete_hemoglobin E disease null http://www.ebi.ac.uk/efo/EFO_0004523 node EFO_0002096 5637 null http://www.ebi.ac.uk/efo/EFO_0002096 node EFO_0005490 BA671 null http://www.ebi.ac.uk/efo/EFO_0005490 node Orphanet_93315 Spondylometaphyseal dysplasia, 'corner fracture' type null http://www.orpha.net/ORDO/Orphanet_93315 node FBbt_00005424 hindgut anlage in statu nascendi null http://purl.obolibrary.org/obo/FBbt_00005424 node PO_0020144 apical meristem A group of cells at the tip of the stem and root that give rise by cell division to the primary tissues and are ultimately responsible for the structural organization of the entire primary plant body. http://purl.obolibrary.org/obo/PO_0020144 node NCBITaxon_39442 Mus musculus musculus null http://purl.obolibrary.org/obo/NCBITaxon_39442 node UBERON_0002350 conducting system of heart null http://purl.obolibrary.org/obo/UBERON_0002350 node MONDO_0003122 striatonigral degeneration null http://purl.obolibrary.org/obo/MONDO_0003122 node NCBITaxon_42413 Peromyscus polionotus null http://purl.obolibrary.org/obo/NCBITaxon_42413 node CLO_0013212 GM17270 null http://purl.obolibrary.org/obo/CLO_0013212 node CHEBI_45980 tacrine null http://purl.obolibrary.org/obo/CHEBI_45980 node OBI_0000971 fresh specimen null http://purl.obolibrary.org/obo/OBI_0000971 node Orphanet_31153 Hypoalphalipoproteinemia null http://www.orpha.net/ORDO/Orphanet_31153 node EFO_0002203 HT1376 null http://www.ebi.ac.uk/efo/EFO_0002203 node MONDO_0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures null http://purl.obolibrary.org/obo/MONDO_0060578 node EFO_1001424 skin epithelioid hemangioma null http://www.ebi.ac.uk/efo/EFO_1001424 node Orphanet_2091 Multinodular goiter - cystic kidney - polydactyly null http://www.orpha.net/ORDO/Orphanet_2091 node EFO_0005373 HCC1806 null http://www.ebi.ac.uk/efo/EFO_0005373 node NCBITaxon_81077 artificial sequences null http://purl.obolibrary.org/obo/NCBITaxon_81077 node FBbt_00005512 salivary gland body primordium null http://purl.obolibrary.org/obo/FBbt_00005512 node EFO_0004832 optic disc size measurement null http://www.ebi.ac.uk/efo/EFO_0004832 node HP_0002031 Abnormal esophagus morphology null http://purl.obolibrary.org/obo/HP_0002031 node Orphanet_231242 Hemoglobin C - beta-thalassemia null http://www.orpha.net/ORDO/Orphanet_231242 node United_States United States null http://dbpedia.org/resource/United_States node Orphanet_370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy null http://www.orpha.net/ORDO/Orphanet_370997 node EFO_1001512 endometrial carcinoma null http://www.ebi.ac.uk/efo/EFO_1001512 node Orphanet_50945 Blomstrand lethal chondrodysplasia null http://www.orpha.net/ORDO/Orphanet_50945 node EFO_0005461 SUDHL1 null http://www.ebi.ac.uk/efo/EFO_0005461 node MONDO_0023757 meralgia paresthetica null http://purl.obolibrary.org/obo/MONDO_0023757 node EFO_0002104 A427 null http://www.ebi.ac.uk/efo/EFO_0002104 node NCBITaxon_782 Rickettsia prowazekii null http://purl.obolibrary.org/obo/NCBITaxon_782 node NCBITaxon_3605 Vitis aestivalis null http://purl.obolibrary.org/obo/NCBITaxon_3605 node CHEBI_3139 bleomycin A2 null http://purl.obolibrary.org/obo/CHEBI_3139 node Orphanet_1059 Blue rubber bleb nevus null http://www.orpha.net/ORDO/Orphanet_1059 node HP_0011805 Abnormal skeletal muscle morphology null http://purl.obolibrary.org/obo/HP_0011805 node EFO_0010832 primary central chondrosarcoma null http://www.ebi.ac.uk/efo/EFO_0010832 node EFO_0000206 stage II endometrioid carcinoma null http://www.ebi.ac.uk/efo/EFO_0000206 node EFO_0000019 CS57572 null http://www.ebi.ac.uk/efo/EFO_0000019 node NCBITaxon_870 Dichelobacter nodosus null http://purl.obolibrary.org/obo/NCBITaxon_870 node Orphanet_98565 Syndromic ankyloblepharon null http://www.orpha.net/ORDO/Orphanet_98565 node UBERON_0011634 ectopterygoid bone null http://purl.obolibrary.org/obo/UBERON_0011634 node Orphanet_229717 Isolated agammaglobulinemia null http://www.orpha.net/ORDO/Orphanet_229717 node HP_0011412 Ventouse delivery null http://purl.obolibrary.org/obo/HP_0011412 node MONDO_0002879 uterine body mixed cancer null http://purl.obolibrary.org/obo/MONDO_0002879 node Orphanet_268838 Leptomyelolipoma null http://www.orpha.net/ORDO/Orphanet_268838 node Orphanet_1147 Sheldon-Hall syndrome null http://www.orpha.net/ORDO/Orphanet_1147 node EFO_0006691 NCI-H322T null http://www.ebi.ac.uk/efo/EFO_0006691 node EFO_0010234 viral subtype carrier status null http://www.ebi.ac.uk/efo/EFO_0010234 node EFO_0010715 10X Ig enrichment null http://www.ebi.ac.uk/efo/EFO_0010715 node Orphanet_2287 Fused mandibular incisors null http://www.orpha.net/ORDO/Orphanet_2287 node CL_0000613 basophil progenitor cell BaP are also CD13-low and integrin beta-7-low. They are lin-negative (CD2, CD3e, CD4, CD5, CD8, CD11b, CD14, CD19, CD20, ly6g, ly76, and NCAM-1). They also lack expression of mast cell protease 1 (MCP-1) and microphthalmia-associated transcription factor (mitf). http://purl.obolibrary.org/obo/CL_0000613 node HP_0011706 Second degree atrioventricular block null http://purl.obolibrary.org/obo/HP_0011706 node EFO_0005405 response to antihypertensive drug null http://www.ebi.ac.uk/efo/EFO_0005405 node EFO_0000107 obsolete_hypothalamus null http://www.ebi.ac.uk/efo/EFO_0000107 node UBERON_2001025 occipital lateral line neuromast null http://purl.obolibrary.org/obo/UBERON_2001025 node EFO_0002197 HPAC null http://www.ebi.ac.uk/efo/EFO_0002197 node Orphanet_1621 3q13 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_1621 node Orphanet_98653 Lens position anomaly Editor note: consider obsoleting as is a phenotypic feature http://www.orpha.net/ORDO/Orphanet_98653 node EFO_0005218 cervical carcinoma cell line null http://www.ebi.ac.uk/efo/EFO_0005218 node CLO_0016635 GM17779 null http://purl.obolibrary.org/obo/CLO_0016635 node Orphanet_956 Acro-pectoro-renal dysplasia null http://www.orpha.net/ORDO/Orphanet_956 node Orphanet_180079 Pseudounicornuate uterus null http://www.orpha.net/ORDO/Orphanet_180079 node EFO_1000396 Nevus of Ota null http://www.ebi.ac.uk/efo/EFO_1000396 node EFO_0009953 post-operative myocardial infarction null http://www.ebi.ac.uk/efo/EFO_0009953 node CLO_0016458 GM17843 null http://purl.obolibrary.org/obo/CLO_0016458 node MONDO_0100014 autoimmune retinopathy null http://purl.obolibrary.org/obo/MONDO_0100014 node EFO_0008849 PARTE null http://www.ebi.ac.uk/efo/EFO_0008849 node EFO_0010322 pericalcarine cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010322 node MONDO_0017026 interstitial lung disease specific to adulthood null http://purl.obolibrary.org/obo/MONDO_0017026 node MONDO_0013564 anhaptoglobinemia null http://purl.obolibrary.org/obo/MONDO_0013564 node Orphanet_2375 Laryngeal abductor paralysis - intellectual disability X linked version based on information from Joanna. http://www.orpha.net/ORDO/Orphanet_2375 node EFO_0002285 NCI-H226 null http://www.ebi.ac.uk/efo/EFO_0002285 node EFO_0001358 post-traumatic stress disorder null http://www.ebi.ac.uk/efo/EFO_0001358 node EFO_0009999 G&T-Seq null http://www.ebi.ac.uk/efo/EFO_0009999 node Orphanet_85327 X-linked intellectual disability - acromegaly - hyperactivity null http://www.orpha.net/ORDO/Orphanet_85327 node MONDO_0030013 immunodeficiency 66 null http://purl.obolibrary.org/obo/MONDO_0030013 node HP_0001373 Joint dislocation Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation. http://purl.obolibrary.org/obo/HP_0001373 node CHEBI_48876 muscarinic antagonist null http://purl.obolibrary.org/obo/CHEBI_48876 node EFO_0008456 sleep apnea measurement during non-REM sleep null http://www.ebi.ac.uk/efo/EFO_0008456 node EFO_0008560 female infertility null http://www.ebi.ac.uk/efo/EFO_0008560 node CHEBI_36799 campestanol null http://purl.obolibrary.org/obo/CHEBI_36799 node MONDO_0017114 global cerebellar malformation null http://purl.obolibrary.org/obo/MONDO_0017114 node HP_0003274 Hypoplastic acetabulae null http://purl.obolibrary.org/obo/HP_0003274 node EFO_0007458 pulmonary blastoma null http://www.ebi.ac.uk/efo/EFO_0007458 node NCBITaxon_13373 Burkholderia mallei null http://purl.obolibrary.org/obo/NCBITaxon_13373 node UBERON_0000914 organismal segment null http://purl.obolibrary.org/obo/UBERON_0000914 node Orphanet_99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction null http://www.orpha.net/ORDO/Orphanet_99138 node EFO_0002373 SW872 null http://www.ebi.ac.uk/efo/EFO_0002373 node Orphanet_370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome null http://www.orpha.net/ORDO/Orphanet_370010 node PO_0025506 fruit size 30 to 50% stage Succeeds a fruit size 10 to 30% stage (PO:0025505) and proceeds a fruit size 50 to 70% stage (PO:0025507). This term can only be used if the final size of the fruit is known. This stage is to be used for an individual fruit. For the development stage of a whole plant (PO:0000003), use whole plant fruit formation stage 30 to 50% (PO:0007029). http://purl.obolibrary.org/obo/PO_0025506 node Orphanet_254818 Ataxia neuropathy spectrum null http://www.orpha.net/ORDO/Orphanet_254818 node EFO_0003800 interleukin-17 (Mus musculus) null http://www.ebi.ac.uk/efo/EFO_0003800 node EFO_0007108 iPS-20b null http://www.ebi.ac.uk/efo/EFO_0007108 node Orphanet_86817 Hemolytic anemia due to adenylate kinase deficiency null http://www.orpha.net/ORDO/Orphanet_86817 node Orphanet_412 Hyperlipoproteinemia type 3 null http://www.orpha.net/ORDO/Orphanet_412 node EFO_0002771 genotyping by high throughput sequencing null http://www.ebi.ac.uk/efo/EFO_0002771 node EFO_0003613 obsolete_lateral dorsal aorta null http://www.ebi.ac.uk/efo/EFO_0003613 node HP_0003457 EMG abnormality null http://purl.obolibrary.org/obo/HP_0003457 node MONDO_0002423 rectosigmoid junction neoplasm null http://purl.obolibrary.org/obo/MONDO_0002423 node EFO_0007516 toxocariasis null http://www.ebi.ac.uk/efo/EFO_0007516 node EFO_0009239 Mature Plasma Cell Count null http://www.ebi.ac.uk/efo/EFO_0009239 node HP_0001274 Agenesis of corpus callosum null http://purl.obolibrary.org/obo/HP_0001274 node Orphanet_99226 Monosomy X null http://www.orpha.net/ORDO/Orphanet_99226 node EFO_0000288 biopsy site There is possible overlap here with sample and perhaps should be merged. http://www.ebi.ac.uk/efo/EFO_0000288 node PO_0009002 plant cell Applies to cells that are living or dead at maturity (e.g., fiber cell or tracheid) and includes any external encapsulating structures (if present) such as the plasma membrane and the plant-type cell wall. Definition of cell GO:0005623: "The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope". GO:0009505. Definition of plant-type cell wall (GO:0009505): A more or less rigid structure lying outside the cell membrane of a cell and composed of cellulose and pectin and other organic and inorganic substances, synonym; exact: cellulose and pectin-containing cell wall. http://purl.obolibrary.org/obo/PO_0009002 node EFO_0008145 granzyme A measurement null http://www.ebi.ac.uk/efo/EFO_0008145 node Orphanet_289548 Inherited isolated adrenal insufficiency due to CYP11A1 deficiency null http://www.orpha.net/ORDO/Orphanet_289548 node Orphanet_500 LEOPARD syndrome null http://www.orpha.net/ORDO/Orphanet_500 node EFO_0006986 Est null http://www.ebi.ac.uk/efo/EFO_0006986 node EFO_0003581 obsolete_slow muscle cell somite 14 null http://www.ebi.ac.uk/efo/EFO_0003581 node EFO_0000686 risk status null http://www.ebi.ac.uk/efo/EFO_0000686 node EFO_0003701 obsolete_parachordal vessel null http://www.ebi.ac.uk/efo/EFO_0003701 node Orphanet_313846 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome null http://www.orpha.net/ORDO/Orphanet_313846 node Orphanet_313 Lamellar ichthyosis null http://www.orpha.net/ORDO/Orphanet_313 node Orphanet_293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome null http://www.orpha.net/ORDO/Orphanet_293165 node Orphanet_140162 Inherited cancer-predisposing syndrome null http://www.orpha.net/ORDO/Orphanet_140162 node NCBITaxon_7234 Drosophila persimilis null http://purl.obolibrary.org/obo/NCBITaxon_7234 node CLO_0026349 ND00259 null http://purl.obolibrary.org/obo/CLO_0026349 node MONDO_0004618 diplegia of upper limb null http://purl.obolibrary.org/obo/MONDO_0004618 node CHEBI_16842 formaldehyde null http://purl.obolibrary.org/obo/CHEBI_16842 node OBI_0000650 differential expression analysis data transformation null http://purl.obolibrary.org/obo/OBI_0000650 node EFO_0001040 obsolete_stem null http://www.ebi.ac.uk/efo/EFO_0001040 node EFO_0005181 C57BL null http://www.ebi.ac.uk/efo/EFO_0005181 node Orphanet_168583 Hereditary North American Indian childhood cirrhosis null http://www.orpha.net/ORDO/Orphanet_168583 node Orphanet_140456 Autosomal dominant hereditary axonal motor and sensory neuropathy null http://www.orpha.net/ORDO/Orphanet_140456 node Orphanet_263417 Bartter syndrome with hypocalcemia null http://www.orpha.net/ORDO/Orphanet_263417 node EFO_0004079 CB1370 null http://www.ebi.ac.uk/efo/EFO_0004079 node GO_0016119 carotene metabolic process null http://purl.obolibrary.org/obo/GO_0016119 node EFO_0000189 obsolete_liver heptocellular carcinoma null http://www.ebi.ac.uk/efo/EFO_0000189 node Orphanet_276608 Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia null http://www.orpha.net/ORDO/Orphanet_276608 node EFO_0000774 obsolete_tuberculosis null http://www.ebi.ac.uk/efo/EFO_0000774 node CHEBI_16522 trans-zeatin null http://purl.obolibrary.org/obo/CHEBI_16522 node EFO_0000597 129 mouse strain null http://www.ebi.ac.uk/efo/EFO_0000597 node OBI_0000181 population null http://purl.obolibrary.org/obo/OBI_0000181 node EFO_1001278 Brown-Pearce carcinoma null http://www.ebi.ac.uk/efo/EFO_1001278 node Orphanet_88630 Terminal osseous dysplasia - pigmentary defects null http://www.orpha.net/ORDO/Orphanet_88630 node Orphanet_289857 Neonatal glycine encephalopathy null http://www.orpha.net/ORDO/Orphanet_289857 node MONDO_0002158 fallopian tube cancer null http://purl.obolibrary.org/obo/MONDO_0002158 node MONDO_0018079 thymic epithelial neoplasm null http://purl.obolibrary.org/obo/MONDO_0018079 node EFO_0003829 alcohol dependence null http://www.ebi.ac.uk/efo/EFO_0003829 node HANCESTRO_0568 African American null http://purl.obolibrary.org/obo/HANCESTRO_0568 node UBERON_0005564 gonad primordium null http://purl.obolibrary.org/obo/UBERON_0005564 node UBERON_0035814 pericardial fat null http://purl.obolibrary.org/obo/UBERON_0035814 node MONDO_0018740 drug-induced methemoglobinemia null http://purl.obolibrary.org/obo/MONDO_0018740 node EFO_0003139 HCjE null http://www.ebi.ac.uk/efo/EFO_0003139 node NCBITaxon_590 Salmonella null http://purl.obolibrary.org/obo/NCBITaxon_590 node Orphanet_357034 Unilateral retinoblastoma null http://www.orpha.net/ORDO/Orphanet_357034 node Orphanet_1078 Thumb stiffness - brachydactyly - intellectual disability null http://www.orpha.net/ORDO/Orphanet_1078 node HP_0200049 Upper limb hypertonia null http://purl.obolibrary.org/obo/HP_0200049 node Orphanet_1120 Lung agenesis - heart defect - thumb anomalies null http://www.orpha.net/ORDO/Orphanet_1120 node CL_0000919 CD8-positive, CD25-positive, alpha-beta regulatory T cell null http://purl.obolibrary.org/obo/CL_0000919 node EFO_0010435 triacylglycerol 56:8 measurement null http://www.ebi.ac.uk/efo/EFO_0010435 node EFO_0004225 Coronary Vasospasm null http://www.ebi.ac.uk/efo/EFO_0004225 node EFO_0003917 premature birth null http://www.ebi.ac.uk/efo/EFO_0003917 node EFO_0000920 obsolete_tectum null http://www.ebi.ac.uk/efo/EFO_0000920 node Orphanet_228140 Idiopathic ventricular fibrillation, not Brugada type null http://www.orpha.net/ORDO/Orphanet_228140 node Orphanet_262628 Partial duplication of chromosome 6 null http://www.orpha.net/ORDO/Orphanet_262628 node EFO_0010890 HG03575 null http://www.ebi.ac.uk/efo/EFO_0010890 node MONDO_0044335 benign soft tissue neoplasm null http://purl.obolibrary.org/obo/MONDO_0044335 node MONDO_0017594 indolent B-cell non-Hodgkin lymphoma null http://purl.obolibrary.org/obo/MONDO_0017594 node EFO_0005375 HCC2935 null http://www.ebi.ac.uk/efo/EFO_0005375 node Orphanet_228363 CLN6 disease null http://www.orpha.net/ORDO/Orphanet_228363 node EFO_0010042 Ren-Seq null http://www.ebi.ac.uk/efo/EFO_0010042 node NCBITaxon_48882 Geospiza conirostris null http://purl.obolibrary.org/obo/NCBITaxon_48882 node Orphanet_136 CADASIL null http://www.orpha.net/ORDO/Orphanet_136 node CHEBI_9349 sulfonyldimethane null http://purl.obolibrary.org/obo/CHEBI_9349 node EFO_0010523 phosphoglyceric acid measurement null http://www.ebi.ac.uk/efo/EFO_0010523 node Orphanet_1021 Amaurosis - hypertrichosis null http://www.orpha.net/ORDO/Orphanet_1021 node EFO_0006370 CL-40 null http://www.ebi.ac.uk/efo/EFO_0006370 node CHEBI_15595 malate(2-) null http://purl.obolibrary.org/obo/CHEBI_15595 node MONDO_0024276 glandular cell neoplasm null http://purl.obolibrary.org/obo/MONDO_0024276 node EFO_0009970 multi-stage Repli-seq null http://www.ebi.ac.uk/efo/EFO_0009970 node MONDO_0002089 retinal vascular occlusion null http://purl.obolibrary.org/obo/MONDO_0002089 node EFO_0006278 GM5659 null http://www.ebi.ac.uk/efo/EFO_0006278 node EFO_0010130 health study participation null http://www.ebi.ac.uk/efo/EFO_0010130 node Orphanet_87884 Non-syndromic genetic deafness null http://www.orpha.net/ORDO/Orphanet_87884 node EFO_0010611 cathepsin D measurement null http://www.ebi.ac.uk/efo/EFO_0010611 node MONDO_0019268 epidermal disease null http://purl.obolibrary.org/obo/MONDO_0019268 node CHEBI_31697 indolin-2-one null http://purl.obolibrary.org/obo/CHEBI_31697 node Orphanet_63454 Patterned dystrophy of the retinal pigment epithelium null http://www.orpha.net/ORDO/Orphanet_63454 node CHEBI_61057 tacrolimus hydrate null http://purl.obolibrary.org/obo/CHEBI_61057 node MONDO_0042966 inherited mitral valve disease null http://purl.obolibrary.org/obo/MONDO_0042966 node EFO_0005092 entorhinal cortical volume null http://www.ebi.ac.uk/efo/EFO_0005092 node MONDO_0003762 malignant leptomeningeal tumor null http://purl.obolibrary.org/obo/MONDO_0003762 node EFO_0007928 ventricular rate measurement null http://www.ebi.ac.uk/efo/EFO_0007928 node EFO_0010108 CD19-positive B-lymphocyte count null http://www.ebi.ac.uk/efo/EFO_0010108 node MONDO_0002177 hyperinsulinism (disease) null http://purl.obolibrary.org/obo/MONDO_0002177 node Orphanet_97231 Ligneous conjunctivitis null http://www.orpha.net/ORDO/Orphanet_97231 node Orphanet_294996 Brachydactyly of fingers null http://www.orpha.net/ORDO/Orphanet_294996 node EFO_0010013 ATAC-see null http://www.ebi.ac.uk/efo/EFO_0010013 node MONDO_0045017 cholesterol biosynthetic process disease null http://purl.obolibrary.org/obo/MONDO_0045017 node Orphanet_2635 Metatropic dysplasia null http://www.orpha.net/ORDO/Orphanet_2635 node HP_0040183 Encopresis null http://purl.obolibrary.org/obo/HP_0040183 node MONDO_0021250 tonsil neoplasm null http://purl.obolibrary.org/obo/MONDO_0021250 node CHEBI_63956 isoxaben null http://purl.obolibrary.org/obo/CHEBI_63956 node EFO_0008943 SPARE null http://www.ebi.ac.uk/efo/EFO_0008943 node EFO_0006530 5T33MM null http://www.ebi.ac.uk/efo/EFO_0006530 node CHEBI_39214 abamectin null http://purl.obolibrary.org/obo/CHEBI_39214 node HP_0002999 Patellar dislocation null http://purl.obolibrary.org/obo/HP_0002999 node EFO_1000190 Colorectal Adenosquamous Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000190 node HP_0000130 Abnormality of the uterus null http://purl.obolibrary.org/obo/HP_0000130 node Orphanet_99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency null http://www.orpha.net/ORDO/Orphanet_99898 node Orphanet_2518 Autosomal recessive chorioretinopathy-microcephaly null http://www.orpha.net/ORDO/Orphanet_2518 node Orphanet_309319 Disorder of sialic acid metabolism null http://www.orpha.net/ORDO/Orphanet_309319 node Orphanet_220386 Semilobar holoprosencephaly null http://www.orpha.net/ORDO/Orphanet_220386 node Orphanet_2926 Polyneuropathy - hand defect null http://www.orpha.net/ORDO/Orphanet_2926 node EFO_1000894 dermoid cyst null http://www.ebi.ac.uk/efo/EFO_1000894 node MONDO_0001325 penile cancer null http://purl.obolibrary.org/obo/MONDO_0001325 node UBERON_2001305 vagal ganglion 4 null http://purl.obolibrary.org/obo/UBERON_2001305 node EFO_0009793 isoleucine measurement null http://www.ebi.ac.uk/efo/EFO_0009793 node EFO_0001909 obsolete_caudal fin null http://www.ebi.ac.uk/efo/EFO_0001909 node EFO_0000846 obsolete_sigmoid colon null http://www.ebi.ac.uk/efo/EFO_0000846 node CL_0002512 CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell null http://purl.obolibrary.org/obo/CL_0002512 node Orphanet_401866 Spasticity-ataxia-gait anomalies syndrome null http://www.orpha.net/ORDO/Orphanet_401866 node Orphanet_79303 Congenital bile acid synthesis defect type 2 null http://www.orpha.net/ORDO/Orphanet_79303 node Orphanet_35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency null http://www.orpha.net/ORDO/Orphanet_35120 node Orphanet_718 Isolated Pierre Robin syndrome null http://www.orpha.net/ORDO/Orphanet_718 node EFO_1000982 inappropriate ADH syndrome null http://www.ebi.ac.uk/efo/EFO_1000982 node EFO_0000453 obsolete_embryonic epipharynx null http://www.ebi.ac.uk/efo/EFO_0000453 node EFO_0009881 nonischemic cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_0009881 node EFO_1001134 pulmonary edema null http://www.ebi.ac.uk/efo/EFO_1001134 node EFO_0008310 tumor necrosis factor receptor superfamily member EDAR measurement null http://www.ebi.ac.uk/efo/EFO_0008310 node Orphanet_3064 X-linked intellectual disability, Wittner type null http://www.orpha.net/ORDO/Orphanet_3064 node EFO_0008059 C-X-C motif chemokine 6 measurement null http://www.ebi.ac.uk/efo/EFO_0008059 node EFO_0004637 protein S measurement null http://www.ebi.ac.uk/efo/EFO_0004637 node NCBITaxon_3888 Pisum sativum null http://purl.obolibrary.org/obo/NCBITaxon_3888 node EFO_0002047 BC-5 null http://www.ebi.ac.uk/efo/EFO_0002047 node EFO_0001739 investigator null http://www.ebi.ac.uk/efo/EFO_0001739 node HP_0002317 Unsteady gait null http://purl.obolibrary.org/obo/HP_0002317 node EFO_1001355 Laryngopharyngeal Reflux null http://www.ebi.ac.uk/efo/EFO_1001355 node Orphanet_891 Familial exudative vitreoretinopathy null http://www.orpha.net/ORDO/Orphanet_891 node Orphanet_806 Scott syndrome null http://www.orpha.net/ORDO/Orphanet_806 node EFO_1001836 pyogenic liver abscess null http://www.ebi.ac.uk/efo/EFO_1001836 node Orphanet_56 Alkaptonuria null http://www.orpha.net/ORDO/Orphanet_56 node BTO_0001708 coelomic fluid null http://purl.obolibrary.org/obo/BTO_0001708 node Orphanet_262785 Partial duplication of the short arm of chromosome 11 null http://www.orpha.net/ORDO/Orphanet_262785 node Orphanet_3152 Sclerosteosis null http://www.orpha.net/ORDO/Orphanet_3152 node Orphanet_314389 Xq12-q13.3 duplication syndrome null http://www.orpha.net/ORDO/Orphanet_314389 node CHEBI_64568 lysophosphatidylcholine 20:4 null http://purl.obolibrary.org/obo/CHEBI_64568 node EFO_0008628 Hyalitis null http://www.ebi.ac.uk/efo/EFO_0008628 node EFO_0004725 metabolite measurement null http://www.ebi.ac.uk/efo/EFO_0004725 node HP_0032263 Increased blood pressure null http://purl.obolibrary.org/obo/HP_0032263 node HP_0001082 Cholecystitis null http://purl.obolibrary.org/obo/HP_0001082 node MONDO_0021358 neoplasm of hypopharynx null http://purl.obolibrary.org/obo/MONDO_0021358 node Orphanet_295124 Split foot, unilateral null http://www.orpha.net/ORDO/Orphanet_295124 node EFO_1001443 Tuberculosis, Cutaneous null http://www.ebi.ac.uk/efo/EFO_1001443 node Orphanet_295059 Amelia of lower limb, bilateral null http://www.orpha.net/ORDO/Orphanet_295059 node UBERON_0005068 neural rod null http://purl.obolibrary.org/obo/UBERON_0005068 node EFO_0005873 embryonic stage 13 Temporal ordering number - 340. http://www.ebi.ac.uk/efo/EFO_0005873 node EFO_0004946 T4b tumor stage null http://www.ebi.ac.uk/efo/EFO_0004946 node EFO_0010493 glycodeoxycholate measurement null http://www.ebi.ac.uk/efo/EFO_0010493 node HP_0007633 Bilateral microphthalmos null http://purl.obolibrary.org/obo/HP_0007633 node CHEBI_35627 beta-lactam null http://purl.obolibrary.org/obo/CHEBI_35627 node EFO_1000579 Thymic Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000579 node HP_0002012 Abnormality of the abdominal organs The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. http://purl.obolibrary.org/obo/HP_0002012 node EFO_0006935 thalamus volume null http://www.ebi.ac.uk/efo/EFO_0006935 node EFO_0010581 organophosphate poisoning null http://www.ebi.ac.uk/efo/EFO_0010581 node NCBITaxon_3719 Capsella bursa-pastoris null http://purl.obolibrary.org/obo/NCBITaxon_3719 node NCBITaxon_6565 Crassostrea virginica null http://purl.obolibrary.org/obo/NCBITaxon_6565 node NCBITaxon_77108 Nuphar advena null http://purl.obolibrary.org/obo/NCBITaxon_77108 node MONDO_0021669 post-infectious disorder null http://purl.obolibrary.org/obo/MONDO_0021669 node EFO_0010928 SIR2-like protein 2 measurement null http://www.ebi.ac.uk/efo/EFO_0010928 node CHEBI_89454 17-Hydroxypregnenolone sulfate null http://purl.obolibrary.org/obo/CHEBI_89454 node EFO_0000138 CS57835 null http://www.ebi.ac.uk/efo/EFO_0000138 node EFO_0007940 chronic venous insufficiency null http://www.ebi.ac.uk/efo/EFO_0007940 node EFO_0007763 dihomo-gamma-linolenic acid measurement null http://www.ebi.ac.uk/efo/EFO_0007763 node EFO_0006836 rapid kidney function decline null http://www.ebi.ac.uk/efo/EFO_0006836 node NCBITaxon_33045 Bartonella grahamii null http://purl.obolibrary.org/obo/NCBITaxon_33045 node EFO_0008559 American trypanosomiasis null http://www.ebi.ac.uk/efo/EFO_0008559 node MONDO_0018718 vascular tumor with associated anomalies Editor note: what is associated anomalies? http://purl.obolibrary.org/obo/MONDO_0018718 node MONDO_0005094 hemangiopericytoma null http://purl.obolibrary.org/obo/MONDO_0005094 node EFO_0006765 TK-10 null http://www.ebi.ac.uk/efo/EFO_0006765 node EFO_0000359 obsolete_cockayne syndrome null http://www.ebi.ac.uk/efo/EFO_0000359 node Orphanet_96112 Non-distal trisomy 9q null http://www.orpha.net/ORDO/Orphanet_96112 node MONDO_0037829 purine metabolism disease null http://purl.obolibrary.org/obo/MONDO_0037829 node Orphanet_98767 Spinocerebellar ataxia type 11 null http://www.orpha.net/ORDO/Orphanet_98767 node EFO_1000697 exanthem null http://www.ebi.ac.uk/efo/EFO_1000697 node EFO_0007851 seroconversion null http://www.ebi.ac.uk/efo/EFO_0007851 node MONDO_0030044 pseudo-torch syndrome 3 null http://purl.obolibrary.org/obo/MONDO_0030044 node EFO_0009972 NAD-seq null http://www.ebi.ac.uk/efo/EFO_0009972 node MONDO_0011323 arhinia, choanal atresia, and microphthalmia null http://purl.obolibrary.org/obo/MONDO_0011323 node UBERON_0000945 stomach null http://purl.obolibrary.org/obo/UBERON_0000945 node CL_0000129 microglial cell Markers: Mouse: CD11b+, F4/80+, CD68+. They represent ~12% of the cells in the CNS, but they are not uniformly distributed within the CNS. A normal adult mouse brain has approximately 3.5x10e6 microglia. Microglia are also reportedly CD3-negative, CD4-positive, CD8-negative, CD11b-positive, CD11c-high, CD14-negative, CD19-negative, CD45-low, CD56-negative, CD163-negative, CD200R-positive, CD281-positive, CD282-positive, CD283-positive, CD284-positive, CD285-positive, CD286-positive, CD287-positive, CD288-positive, CD289-positive, Gr1-negative, nestin-positive, and PU.1-positive. http://purl.obolibrary.org/obo/CL_0000129 node CLO_0013798 GM17194 null http://purl.obolibrary.org/obo/CLO_0013798 node Orphanet_2326 Kallmann syndrome - heart disease null http://www.orpha.net/ORDO/Orphanet_2326 node EFO_1000598 Tracheal Adenoid Cystic Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000598 node Orphanet_254749 Tricarboxylic acid cycle disorder null http://www.orpha.net/ORDO/Orphanet_254749 node CL_0002115 B220-positive CD38-positive unswitched memory B cell null http://purl.obolibrary.org/obo/CL_0002115 node EFO_0003386 obsolete_central brain primordium null http://www.ebi.ac.uk/efo/EFO_0003386 node Orphanet_2414 Congenital pulmonary lymphangiectasia null http://www.orpha.net/ORDO/Orphanet_2414 node EFO_0007409 ornithine carbamoyltransferase deficiency null http://www.ebi.ac.uk/efo/EFO_0007409 node EFO_0004004 consomic strain null http://www.ebi.ac.uk/efo/EFO_0004004 node EFO_0009744 surgical resection null http://www.ebi.ac.uk/efo/EFO_0009744 node EFO_0002867 TMK1 null http://www.ebi.ac.uk/efo/EFO_0002867 node MONDO_0003446 papillary hidradenoma null http://purl.obolibrary.org/obo/MONDO_0003446 node NCBITaxon_377270 Anopheles gambiae S null http://purl.obolibrary.org/obo/NCBITaxon_377270 node Orphanet_526 Liddle syndrome null http://www.orpha.net/ORDO/Orphanet_526 node EFO_0009557 mitral valve disease null http://www.ebi.ac.uk/efo/EFO_0009557 node Orphanet_98152 Autosomal uniparental disomy null http://www.orpha.net/ORDO/Orphanet_98152 node MONDO_0012350 complement factor H deficiency null http://purl.obolibrary.org/obo/MONDO_0012350 node UBERON_6001767 antennal disc null http://purl.obolibrary.org/obo/UBERON_6001767 node EFO_0009484 uterine polyp null http://www.ebi.ac.uk/efo/EFO_0009484 node EFO_0007071 BG01 null http://www.ebi.ac.uk/efo/EFO_0007071 node Orphanet_401810 Autosomal recessive spastic paraplegia type 64 null http://www.orpha.net/ORDO/Orphanet_401810 node EFO_0007016 food allergy measurement null http://www.ebi.ac.uk/efo/EFO_0007016 node EFO_0003474 obsolete_macula utricle null http://www.ebi.ac.uk/efo/EFO_0003474 node Orphanet_289849 Glutathione synthetase deficiency without 5-oxoprolinuria null http://www.orpha.net/ORDO/Orphanet_289849 node EFO_0003882 osteoporosis null http://www.ebi.ac.uk/efo/EFO_0003882 node EFO_0002955 reproductive system cell null http://www.ebi.ac.uk/efo/EFO_0002955 node Orphanet_614 Thomsen and Becker disease null http://www.orpha.net/ORDO/Orphanet_614 node Orphanet_409 Hyperkeratosis lenticularis perstans null http://www.orpha.net/ORDO/Orphanet_409 node EFO_1000192 Colorectal Gastrointestinal Stromal Tumor null http://www.ebi.ac.uk/efo/EFO_1000192 node CHEBI_84665 triacylglycerol 50:1 null http://purl.obolibrary.org/obo/CHEBI_84665 node Orphanet_371436 Genetic neurovascular malformation null http://www.orpha.net/ORDO/Orphanet_371436 node EFO_0009645 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart null http://www.ebi.ac.uk/efo/EFO_0009645 node MONDO_0025102 monkey disease null http://purl.obolibrary.org/obo/MONDO_0025102 node EFO_0003695 obsolete_aortic arch null http://www.ebi.ac.uk/efo/EFO_0003695 node EFO_0002768 transcription profiling by array null http://www.ebi.ac.uk/efo/EFO_0002768 node EFO_1001989 Monomelic amyotrophy ORDO term http://www.ebi.ac.uk/efo/EFO_1001989 node CL_1000452 parietal epithelial cell null http://purl.obolibrary.org/obo/CL_1000452 node EFO_0008001 insulin secretion measurement null http://www.ebi.ac.uk/efo/EFO_0008001 node EFO_0002605 gene name null http://www.ebi.ac.uk/efo/EFO_0002605 node CHEBI_64424 phosphatidylcholine 34:3 null http://purl.obolibrary.org/obo/CHEBI_64424 node HP_0000448 Prominent nose null http://purl.obolibrary.org/obo/HP_0000448 node NCBITaxon_2903 Emiliania huxleyi null http://purl.obolibrary.org/obo/NCBITaxon_2903 node HP_0003401 Paresthesia null http://purl.obolibrary.org/obo/HP_0003401 node NCBITaxon_1905 Streptomyces exfoliatus null http://purl.obolibrary.org/obo/NCBITaxon_1905 node MONDO_0005499 brain glioma null http://purl.obolibrary.org/obo/MONDO_0005499 node EFO_1001783 desmoplastic fibroma null http://www.ebi.ac.uk/efo/EFO_1001783 node EFO_1000280 Gastrointestinal Hamartoma null http://www.ebi.ac.uk/efo/EFO_1000280 node UBERON_0001255 urinary bladder null http://purl.obolibrary.org/obo/UBERON_0001255 node CHEBI_64645 beta amyloid Secondary ChEBI IDs - CHEBI:53002 http://purl.obolibrary.org/obo/CHEBI_64645 node EFO_0008705 DAP-seq null http://www.ebi.ac.uk/efo/EFO_0008705 node CHEBI_3750 clofibrate null http://purl.obolibrary.org/obo/CHEBI_3750 node MONDO_0020743 mixed phenotype acute leukemia null http://purl.obolibrary.org/obo/MONDO_0020743 node CHEBI_16587 20-hydroxyecdysone null http://purl.obolibrary.org/obo/CHEBI_16587 node EFO_0003783 progressive bulbar palsy null http://www.ebi.ac.uk/efo/EFO_0003783 node EFO_0001370 obsolete_intervertebral disc null http://www.ebi.ac.uk/efo/EFO_0001370 node MONDO_0014746 SLC39A8-CDG null http://purl.obolibrary.org/obo/MONDO_0014746 node MONDO_0021640 grade III glioma null http://purl.obolibrary.org/obo/MONDO_0021640 node EFO_0002141 CORL105 null http://www.ebi.ac.uk/efo/EFO_0002141 node EFO_0001214 MDAMB436 null http://www.ebi.ac.uk/efo/EFO_0001214 node EFO_0000548 instrument null http://www.ebi.ac.uk/efo/EFO_0000548 node EFO_0000630 oligoastrocytoma null http://www.ebi.ac.uk/efo/EFO_0000630 node EFO_0001037 leaf vascular tissue null http://www.ebi.ac.uk/efo/EFO_0001037 node Orphanet_93460 Overgrowth syndrome null http://www.orpha.net/ORDO/Orphanet_93460 node EFO_1000843 brachial plexus neuritis null http://www.ebi.ac.uk/efo/EFO_1000843 node EFO_0008312 tyrosine-protein kinase receptor Tie-1, soluble measurement null http://www.ebi.ac.uk/efo/EFO_0008312 node UBERON_0009120 gill filament null http://purl.obolibrary.org/obo/UBERON_0009120 node EFO_0010940 microglial activation measurement null http://www.ebi.ac.uk/efo/EFO_0010940 node Orphanet_183654 Rare genetic coagulation disorder null http://www.orpha.net/ORDO/Orphanet_183654 node MONDO_0014834 dyskinesia, limb and orofacial, infantile-onset null http://purl.obolibrary.org/obo/MONDO_0014834 node EFO_0002300 NCI-H69 Merged definition and description based on now-obsolete EFO_0002823 that refers to ATCC call number: HTB-119 and http://www.lgcstandards-atcc.org/products/all/HTB-119.aspx?geo_country=gb http://www.ebi.ac.uk/efo/EFO_0002300 node EFO_0000813 obsolete_white fat null http://www.ebi.ac.uk/efo/EFO_0000813 node BTO_0002178 HMEpC cell null http://purl.obolibrary.org/obo/BTO_0002178 node EFO_1001317 Epiphyses, Slipped null http://www.ebi.ac.uk/efo/EFO_1001317 node NCBITaxon_77166 Dendroctonus ponderosae null http://purl.obolibrary.org/obo/NCBITaxon_77166 node EFO_1000931 euthyroid sick syndrome null http://www.ebi.ac.uk/efo/EFO_1000931 node EFO_0008400 susceptibility to chickenpox measurement null http://www.ebi.ac.uk/efo/EFO_0008400 node EFO_0003953 circumcision null http://www.ebi.ac.uk/efo/EFO_0003953 node GO_0045202 synapse null http://purl.obolibrary.org/obo/GO_0045202 node CHEBI_85750 triacylglycerol 56:6 null http://purl.obolibrary.org/obo/CHEBI_85750 node CL_0000884 mucosa-associated lymphoid tissue macrophage null http://purl.obolibrary.org/obo/CL_0000884 node EFO_0000402 diffuse gastric adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0000402 node EFO_1000744 occupational dermatitis null http://www.ebi.ac.uk/efo/EFO_1000744 node MONDO_0002102 cheilitis null http://purl.obolibrary.org/obo/MONDO_0002102 node EFO_0005513 progesterone receptor status null http://www.ebi.ac.uk/efo/EFO_0005513 node Orphanet_363306 Genetic intestinal disease due to fat malabsorption null http://www.orpha.net/ORDO/Orphanet_363306 node Orphanet_307846 Isolated focal palmoplantar keratoderma null http://www.orpha.net/ORDO/Orphanet_307846 node Orphanet_1117 Aplasia cutis - myopia null http://www.orpha.net/ORDO/Orphanet_1117 node EFO_0004409 Theiler stage 19 null http://www.ebi.ac.uk/efo/EFO_0004409 node NCBITaxon_104421 Camponotus floridanus null http://purl.obolibrary.org/obo/NCBITaxon_104421 node CHEBI_3347 candesartan null http://purl.obolibrary.org/obo/CHEBI_3347 node Orphanet_1702 Non-distal trisomy 13q null http://www.orpha.net/ORDO/Orphanet_1702 node EFO_0000519 glioblastoma multiforme null http://www.ebi.ac.uk/efo/EFO_0000519 node Orphanet_1525 Cranio-osteoarthropathy null http://www.orpha.net/ORDO/Orphanet_1525 node EFO_0005734 muscle cell derived cell line null http://www.ebi.ac.uk/efo/EFO_0005734 node Orphanet_93307 Multiple epiphyseal dysplasia type 4 null http://www.orpha.net/ORDO/Orphanet_93307 node NCBITaxon_482058 Ralstonia phage RSL1 null http://purl.obolibrary.org/obo/NCBITaxon_482058 node EFO_0000917 obsolete_temporal lobe null http://www.ebi.ac.uk/efo/EFO_0000917 node Orphanet_104078 Unclassified intestinal pseudoobstruction null http://www.orpha.net/ORDO/Orphanet_104078 node EFO_1000351 obsolete_malignant epitheloid mesothelioma null http://www.ebi.ac.uk/efo/EFO_1000351 node EFO_0007959 fetal genotype effect measurement null http://www.ebi.ac.uk/efo/EFO_0007959 node HP_0011902 Abnormal hemoglobin null http://purl.obolibrary.org/obo/HP_0011902 node CL_0000785 mature B cell Mature B cells are also reportedly CD10-negative, CD19-positive, CD22-positive, CD34-negative, CD48-positive, CD79a-positive, CD84-positive, CD127-negative, CD352-positive, RAG-negative, TdT-negative, Vpre-B-negative, and pre-BCR-negative. Transcription factors expressed: Pax5-positive. http://purl.obolibrary.org/obo/CL_0000785 node EFO_0010226 phosphatidylcholine measurement null http://www.ebi.ac.uk/efo/EFO_0010226 node EFO_0010039 mutARS-Seq null http://www.ebi.ac.uk/efo/EFO_0010039 node EFO_0005414 airway hyperresponsiveness null http://www.ebi.ac.uk/efo/EFO_0005414 node CHEBI_15956 biotin null http://purl.obolibrary.org/obo/CHEBI_15956 node NCBITaxon_43490 Gyps africanus null http://purl.obolibrary.org/obo/NCBITaxon_43490 node HP_0011035 Abnormal renal cortex morphology null http://purl.obolibrary.org/obo/HP_0011035 node EFO_0001108 GM06993 null http://www.ebi.ac.uk/efo/EFO_0001108 node MONDO_0024665 indeterminate sex and/or pseudohermaphroditism null http://purl.obolibrary.org/obo/MONDO_0024665 node CHEBI_9011 salmeterol null http://purl.obolibrary.org/obo/CHEBI_9011 node EFO_0005822 ML-DmBG2-c2 null http://www.ebi.ac.uk/efo/EFO_0005822 node Orphanet_210133 Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair null http://www.orpha.net/ORDO/Orphanet_210133 node Orphanet_1426 Greenberg dysplasia null http://www.orpha.net/ORDO/Orphanet_1426 node MONDO_0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia null http://purl.obolibrary.org/obo/MONDO_0100186 node MONDO_0100210 growth hormone insensitivity syndrome with immune dysregulation null http://purl.obolibrary.org/obo/MONDO_0100210 node NCBITaxon_5660 Leishmania braziliensis null http://purl.obolibrary.org/obo/NCBITaxon_5660 node MONDO_0024478 mesenchymal hamartoma null http://purl.obolibrary.org/obo/MONDO_0024478 node EFO_0007566 GFP protein fusion library null http://www.ebi.ac.uk/efo/EFO_0007566 node UBERON_0004064 neural tube basal plate null http://purl.obolibrary.org/obo/UBERON_0004064 node PO_0020037 mesocotyl Occurs in grasses. In grasses, the hypocotyl and cotyledon may not be visible and may be represented by the scutellar node and scutellum, making the mesocotyl similar to the epicotyl in other taxa. Elongation of the mesocotyl during seedling growth pushes the coleoptile above the soil surface. http://purl.obolibrary.org/obo/PO_0020037 node EO_0007191 abiotic plant treatment null http://purl.obolibrary.org/obo/EO_0007191 node EFO_0007379 mucocutaneous Leishmaniasis null http://www.ebi.ac.uk/efo/EFO_0007379 node GO_0006766 vitamin metabolic process null http://purl.obolibrary.org/obo/GO_0006766 node Orphanet_97345 Familial dementia, British type null http://www.orpha.net/ORDO/Orphanet_97345 node UBERON_0005870 olfactory pit null http://purl.obolibrary.org/obo/UBERON_0005870 node EFO_0010127 serum immunoglobulin measurement null http://www.ebi.ac.uk/efo/EFO_0010127 node Orphanet_171719 Cutis laxa-Marfanoid syndrome null http://www.orpha.net/ORDO/Orphanet_171719 node CL_0000025 egg cell null http://purl.obolibrary.org/obo/CL_0000025 node NCBITaxon_29149 Protomelas similis null http://purl.obolibrary.org/obo/NCBITaxon_29149 node EFO_0005910 ES-D3 null http://www.ebi.ac.uk/efo/EFO_0005910 node EFO_0001296 obsolete_gastrula stage null http://www.ebi.ac.uk/efo/EFO_0001296 node CHEBI_63613 nevirapine null http://purl.obolibrary.org/obo/CHEBI_63613 node UBERON_0003124 chorion membrane null http://purl.obolibrary.org/obo/UBERON_0003124 node EFO_0007467 Reye syndrome null http://www.ebi.ac.uk/efo/EFO_0007467 node CHEBI_82968 gamma-glutamylthreonine null http://purl.obolibrary.org/obo/CHEBI_82968 node EFO_0006467 Panc 03.27 null http://www.ebi.ac.uk/efo/EFO_0006467 node Orphanet_2819 Spastic paraplegia - facial-cutaneous lesions null http://www.orpha.net/ORDO/Orphanet_2819 node Orphanet_68356 Leukodystrophy Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' http://www.orpha.net/ORDO/Orphanet_68356 node Orphanet_101330 Porphyria cutanea tarda Editor notes: ORDO classifies as inherited but in fact many forms are inherited http://www.orpha.net/ORDO/Orphanet_101330 node UBERON_0008952 upper lobe of left lung null http://purl.obolibrary.org/obo/UBERON_0008952 node Orphanet_325124 Testicular agenesis null http://www.orpha.net/ORDO/Orphanet_325124 node EFO_0009248 Plasma Cell Count null http://www.ebi.ac.uk/efo/EFO_0009248 node EFO_0006527 smoking status measurement null http://www.ebi.ac.uk/efo/EFO_0006527 node EFO_0002391 obsolete_Wi38 null http://www.ebi.ac.uk/efo/EFO_0002391 node Orphanet_35981 Polymicrogyria null http://www.orpha.net/ORDO/Orphanet_35981 node EFO_0000882 obsolete_forelimb null http://www.ebi.ac.uk/efo/EFO_0000882 node NCBITaxon_12295 Tobacco rattle virus null http://purl.obolibrary.org/obo/NCBITaxon_12295 node Orphanet_1784 Acro-fronto-facio-nasal dysostosis null http://www.orpha.net/ORDO/Orphanet_1784 node EFO_0009054 Pulmonary arterial hypertension associated with congenital heart disease null http://www.ebi.ac.uk/efo/EFO_0009054 node EFO_0006321 antidepressant-induced dizziness null http://www.ebi.ac.uk/efo/EFO_0006321 node EFO_1001386 Pasteurellaceae Infections null http://www.ebi.ac.uk/efo/EFO_1001386 node MONDO_0033374 developmental and epileptic encephalopathy, 65 null http://purl.obolibrary.org/obo/MONDO_0033374 node Orphanet_99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C null http://www.orpha.net/ORDO/Orphanet_99937 node Orphanet_247511 Autosomal dominant secondary polycythemia null http://www.orpha.net/ORDO/Orphanet_247511 node EFO_1001867 Zenker diverticulum null http://www.ebi.ac.uk/efo/EFO_1001867 node EFO_0009336 velopharyngeal dysfunction null http://www.ebi.ac.uk/efo/EFO_0009336 node EFO_0004889 postoperative ventricular dysfunction null http://www.ebi.ac.uk/efo/EFO_0004889 node EFO_0008513 morphologic finding null http://www.ebi.ac.uk/efo/EFO_0008513 node EFO_0006615 KMS-26 null http://www.ebi.ac.uk/efo/EFO_0006615 node NCBITaxon_11613 Tomato spotted wilt virus null http://purl.obolibrary.org/obo/NCBITaxon_11613 node EFO_0000999 plant developmental tissue null http://www.ebi.ac.uk/efo/EFO_0000999 node CHEBI_50276 topoisomerase I inhibitor null http://purl.obolibrary.org/obo/CHEBI_50276 node Orphanet_93550 Basement membrane disease null http://www.orpha.net/ORDO/Orphanet_93550 node Orphanet_52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia null http://www.orpha.net/ORDO/Orphanet_52430 node EFO_0010485 glucose-6-phosphate measurement null http://www.ebi.ac.uk/efo/EFO_0010485 node EFO_0006438 HEp-2 null http://www.ebi.ac.uk/efo/EFO_0006438 node CL_0000886 nasal and broncial associated lymphoid tissue macrophage null http://purl.obolibrary.org/obo/CL_0000886 node EFO_0000970 obsolete_male reproductive system null http://www.ebi.ac.uk/efo/EFO_0000970 node Orphanet_90348 Autosomal dominant cutis laxa null http://www.orpha.net/ORDO/Orphanet_90348 node UBERON_2001298 vagal placode 2 null http://purl.obolibrary.org/obo/UBERON_2001298 node Orphanet_391351 SURF1-related Charcot-Marie-Tooth disease type 4 null http://www.orpha.net/ORDO/Orphanet_391351 node HP_0000800 Cystic renal dysplasia null http://purl.obolibrary.org/obo/HP_0000800 node EFO_0002292 NCI-H441 null http://www.ebi.ac.uk/efo/EFO_0002292 node Orphanet_1872 Cone rod dystrophy null http://www.orpha.net/ORDO/Orphanet_1872 node EFO_0009142 dilated cardiomyopathy, dominant null http://www.ebi.ac.uk/efo/EFO_0009142 node NCBITaxon_36247 Gyps fulvus null http://purl.obolibrary.org/obo/NCBITaxon_36247 node EFO_0000783 myositis null http://www.ebi.ac.uk/efo/EFO_0000783 node EFO_1001474 pneumococcal pneumonia null http://www.ebi.ac.uk/efo/EFO_1001474 node Orphanet_319192 Diencephalic-mesencephalic junction dysplasia null http://www.orpha.net/ORDO/Orphanet_319192 node EFO_0001775 reference design null http://www.ebi.ac.uk/efo/EFO_0001775 node Orphanet_140922 Autosomal recessive limb-girdle muscular dystrophy type 2J null http://www.orpha.net/ORDO/Orphanet_140922 node EFO_0008601 pemphigus foliaceus null http://www.ebi.ac.uk/efo/EFO_0008601 node EFO_1001287 Cestode Infections null http://www.ebi.ac.uk/efo/EFO_1001287 node CHEBI_585948 felodipine null http://purl.obolibrary.org/obo/CHEBI_585948 node MONDO_0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation null http://purl.obolibrary.org/obo/MONDO_0032921 node Orphanet_93394 Brachydactyly type A4 null http://www.orpha.net/ORDO/Orphanet_93394 node EFO_0008392 triiodothyronine measurement null http://www.ebi.ac.uk/efo/EFO_0008392 node EFO_0003335 Drosophila embryonic structure null http://www.ebi.ac.uk/efo/EFO_0003335 node MONDO_0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome null http://purl.obolibrary.org/obo/MONDO_0033683 node CHEBI_50177 dermatologic drug null http://purl.obolibrary.org/obo/CHEBI_50177 node CL_0000974 long lived plasma cell null http://purl.obolibrary.org/obo/CL_0000974 node MONDO_0020657 human papillomavirus-related squamous cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0020657 node EFO_0003148 moderate heart failure null http://www.ebi.ac.uk/efo/EFO_0003148 node Orphanet_3103 Roberts syndrome null http://www.orpha.net/ORDO/Orphanet_3103 node EFO_0009025 Bardet-Biedl syndrome 5 null http://www.ebi.ac.uk/efo/EFO_0009025 node Orphanet_75249 Familial isolated restrictive cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_75249 node EFO_0010794 signaling lymphocytic activation molecule 1 measurement null http://www.ebi.ac.uk/efo/EFO_0010794 node HANCESTRO_0570 Pima Indian null http://purl.obolibrary.org/obo/HANCESTRO_0570 node CLO_0014388 GM17259 null http://purl.obolibrary.org/obo/CLO_0014388 node Orphanet_1292 Brachymorphism - onychodysplasia - dysphalangism null http://www.orpha.net/ORDO/Orphanet_1292 node EFO_0008003 heart rate variability measurement null http://www.ebi.ac.uk/efo/EFO_0008003 node MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability null http://purl.obolibrary.org/obo/MONDO_0015161 node CLO_0031201 GM14405 null http://purl.obolibrary.org/obo/CLO_0031201 node Orphanet_217 Isolated Dandy-Walker malformation null http://www.orpha.net/ORDO/Orphanet_217 node EFO_0000023 CS57586 null http://www.ebi.ac.uk/efo/EFO_0000023 node Orphanet_93277 Monostotic fibrous dysplasia null http://www.orpha.net/ORDO/Orphanet_93277 node CL_0000581 peritoneal macrophage Markers: Mouse: F4/80-high, CD11b-high, CD68+, SIGNR1+, Dectin-1+. http://purl.obolibrary.org/obo/CL_0000581 node CHEBI_132034 triacylglycerol 56:2 null http://purl.obolibrary.org/obo/CHEBI_132034 node EFO_0004185 enrichment of methylated DNA null http://www.ebi.ac.uk/efo/EFO_0004185 node EFO_0003236 thrombopoietin null http://www.ebi.ac.uk/efo/EFO_0003236 node HP_0001103 Abnormal macular morphology The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light. http://purl.obolibrary.org/obo/HP_0001103 node Orphanet_137675 Histiocytoid cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_137675 node EFO_1000141 Brain Stem Glioblastoma null http://www.ebi.ac.uk/efo/EFO_1000141 node EFO_0003644 obsolete_pelvic fin null http://www.ebi.ac.uk/efo/EFO_0003644 node HP_0012595 Mild proteinuria null http://purl.obolibrary.org/obo/HP_0012595 node MONDO_0016634 thrombotic disorder due to an acquired coagulation factors defect null http://purl.obolibrary.org/obo/MONDO_0016634 node EFO_1000435 Ovarian Transitional Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000435 node Orphanet_313838 Coats plus syndrome null http://www.orpha.net/ORDO/Orphanet_313838 node Orphanet_305 Junctional epidermolysis bullosa null http://www.orpha.net/ORDO/Orphanet_305 node HP_0001324 Muscle weakness It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. http://purl.obolibrary.org/obo/HP_0001324 node EFO_0000111 CS57770 null http://www.ebi.ac.uk/efo/EFO_0000111 node Orphanet_93365 CINCA syndrome with NLRP3 mutations null http://www.orpha.net/ORDO/Orphanet_93365 node Orphanet_58 Alexander disease null http://www.orpha.net/ORDO/Orphanet_58 node EFO_0010532 salicylurate measurement null http://www.ebi.ac.uk/efo/EFO_0010532 node CLO_0016597 GM17768 null http://purl.obolibrary.org/obo/CLO_0016597 node EFO_0010379 phosphatidylcholine 36:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010379 node UBERON_0002294 biliary system null http://purl.obolibrary.org/obo/UBERON_0002294 node MONDO_0004830 fasciitis (disease) null http://purl.obolibrary.org/obo/MONDO_0004830 node EFO_0005222 avian influenza null http://www.ebi.ac.uk/efo/EFO_0005222 node MONDO_0010888 endometriosis of uterus Editor note: NCIT does not classify as a subtype of endometriosis http://purl.obolibrary.org/obo/MONDO_0010888 node MONDO_0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 null http://purl.obolibrary.org/obo/MONDO_0020628 node EFO_0004273 scoliosis null http://www.ebi.ac.uk/efo/EFO_0004273 node HP_0009803 Short phalanx of finger null http://purl.obolibrary.org/obo/HP_0009803 node NCBITaxon_129213 Polytrichum juniperinum null http://purl.obolibrary.org/obo/NCBITaxon_129213 node MONDO_0021525 benign neoplasm of corpus uteri null http://purl.obolibrary.org/obo/MONDO_0021525 node EFO_0004086 DR1572 null http://www.ebi.ac.uk/efo/EFO_0004086 node EFO_0003732 obsolete_lung (Macaca fascicularis) null http://www.ebi.ac.uk/efo/EFO_0003732 node EFO_1000042 ovarian clear cell adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000042 node MONDO_0017030 interstitial lung disease in childhood and adulthood null http://purl.obolibrary.org/obo/MONDO_0017030 node Orphanet_363400 Severe neurodegenerative syndrome with lipodystrophy null http://www.orpha.net/ORDO/Orphanet_363400 node Orphanet_240371 Syndromic obesity null http://www.orpha.net/ORDO/Orphanet_240371 node EFO_1000523 Sex Hormone-Producing Adrenal Cortex Adenoma null http://www.ebi.ac.uk/efo/EFO_1000523 node EFO_0004472 obsolete_C57BL/6 null http://www.ebi.ac.uk/efo/EFO_0004472 node EFO_0003545 obsolete_valvula cerebelli null http://www.ebi.ac.uk/efo/EFO_0003545 node Orphanet_308166 Erythrokeratoderma variabilis progressiva null http://www.orpha.net/ORDO/Orphanet_308166 node EFO_0010620 dickkopf‐related protein 1 measurement null http://www.ebi.ac.uk/efo/EFO_0010620 node EFO_0005268 serum zinc measurement null http://www.ebi.ac.uk/efo/EFO_0005268 node CHEBI_17325 3-hydroxy-3-methylglutarate(2-) null http://purl.obolibrary.org/obo/CHEBI_17325 node CLO_0016685 GM17787 null http://purl.obolibrary.org/obo/CLO_0016685 node Orphanet_35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis null http://www.orpha.net/ORDO/Orphanet_35696 node EFO_0005105 lipid or lipoprotein measurement null http://www.ebi.ac.uk/efo/EFO_0005105 node MONDO_0021331 carcinoma of parotid gland null http://purl.obolibrary.org/obo/MONDO_0021331 node CLO_0016522 GM17831 null http://purl.obolibrary.org/obo/CLO_0016522 node Orphanet_169446 Autosomal recessive hyper-IgE syndrome null http://www.orpha.net/ORDO/Orphanet_169446 node MONDO_0021154 dermis disease null http://purl.obolibrary.org/obo/MONDO_0021154 node Orphanet_284417 Phosphoserine aminotransferase deficiency null http://www.orpha.net/ORDO/Orphanet_284417 node NCBITaxon_91422 Polistes metricus null http://purl.obolibrary.org/obo/NCBITaxon_91422 node Orphanet_295071 Radial hemimelia, bilateral null http://www.orpha.net/ORDO/Orphanet_295071 node EFO_0006323 antidepressant-induced visual impairment null http://www.ebi.ac.uk/efo/EFO_0006323 node Orphanet_96109 Distal trisomy 22q null http://www.orpha.net/ORDO/Orphanet_96109 node MONDO_0000591 intrinsic cardiomyopathy null http://purl.obolibrary.org/obo/MONDO_0000591 node FBbt_00005498 dorsal pharyngeal muscle primordium null http://purl.obolibrary.org/obo/FBbt_00005498 node MONDO_0012155 choanal atresia null http://purl.obolibrary.org/obo/MONDO_0012155 node UBERON_0000964 cornea null http://purl.obolibrary.org/obo/UBERON_0000964 node Orphanet_2156 Hirsutism-skeletal dysplasia-intellectual disability syndrome null http://www.orpha.net/ORDO/Orphanet_2156 node OBI_0001142 dye swap quality control role null http://purl.obolibrary.org/obo/OBI_0001142 node EFO_0007158 Astroviridae infectious disease null http://www.ebi.ac.uk/efo/EFO_0007158 node EFO_0001964 obsolete_male accessory gland null http://www.ebi.ac.uk/efo/EFO_0001964 node EFO_0006411 G84 null http://www.ebi.ac.uk/efo/EFO_0006411 node Orphanet_35704 Arginine:glycine amidinotransferase deficiency null http://www.orpha.net/ORDO/Orphanet_35704 node NCBITaxon_624 Shigella sonnei null http://purl.obolibrary.org/obo/NCBITaxon_624 node UBERON_0005515 rhombomere 5 null http://purl.obolibrary.org/obo/UBERON_0005515 node CL_0002047 Fraction B precursor B cell Markers are commonly associated with mouse cells. These cells are also reportedly RAG1-positive and RAG2-positive. http://purl.obolibrary.org/obo/CL_0002047 node EFO_0002799 NHEK null http://www.ebi.ac.uk/efo/EFO_0002799 node MONDO_0014391 severe combined immunodeficiency due to CTPS1 deficiency null http://purl.obolibrary.org/obo/MONDO_0014391 node Orphanet_2882 Sitosterolemia null http://www.orpha.net/ORDO/Orphanet_2882 node Orphanet_3221 Generalized resistance to thyroid hormone null http://www.orpha.net/ORDO/Orphanet_3221 node HP_0000479 Abnormal retinal morphology null http://purl.obolibrary.org/obo/HP_0000479 node HP_0003614 Trimethylaminuria Increased concentration of trimethylamine, an organic amino compound with an oder characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide. http://purl.obolibrary.org/obo/HP_0003614 node Orphanet_3034 Delayed membranous cranial ossification null http://www.orpha.net/ORDO/Orphanet_3034 node MONDO_0002297 epidermal appendage tumor null http://purl.obolibrary.org/obo/MONDO_0002297 node Orphanet_85331 X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature null http://www.orpha.net/ORDO/Orphanet_85331 node Orphanet_3338 Toriello-Carey syndrome null http://www.orpha.net/ORDO/Orphanet_3338 node EFO_0008918 SELEX-seq null http://www.ebi.ac.uk/efo/EFO_0008918 node EFO_0002906 obsolete_whole organism null http://www.ebi.ac.uk/efo/EFO_0002906 node EFO_0001935 obsolete_ventral tegmental area null http://www.ebi.ac.uk/efo/EFO_0001935 node EFO_0007273 Filoviridae infectious disease null http://www.ebi.ac.uk/efo/EFO_0007273 node HP_0002921 Abnormality of the cerebrospinal fluid The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain). http://purl.obolibrary.org/obo/HP_0002921 node CHEBI_17992 sucrose null http://purl.obolibrary.org/obo/CHEBI_17992 node Orphanet_392 Holt-Oram syndrome null http://www.orpha.net/ORDO/Orphanet_392 node CHEBI_85875 triacylglycerol 52:6 null http://purl.obolibrary.org/obo/CHEBI_85875 node HP_0001892 Abnormal bleeding This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. http://purl.obolibrary.org/obo/HP_0001892 node Orphanet_88619 Familial acute necrotizing encephalopathy null http://www.orpha.net/ORDO/Orphanet_88619 node MONDO_0044784 myxoma null http://purl.obolibrary.org/obo/MONDO_0044784 node Orphanet_2203 Hyperlysinemia null http://www.orpha.net/ORDO/Orphanet_2203 node EFO_0002393 obsolete_YAPC null http://www.ebi.ac.uk/efo/EFO_0002393 node EFO_0002513 obsolete_alveolus null http://www.ebi.ac.uk/efo/EFO_0002513 node EFO_0009746 extended oligoarticular juvenile idiopathic arthritis null http://www.ebi.ac.uk/efo/EFO_0009746 node EFO_0008819 mNET-seq null http://www.ebi.ac.uk/efo/EFO_0008819 node NCBITaxon_63405 Arthroderma otae null http://purl.obolibrary.org/obo/NCBITaxon_63405 node EFO_0008083 chemokine (C-X-C motif) ligand 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008083 node Orphanet_320370 Autosomal recessive spastic paraplegia type 43 null http://www.orpha.net/ORDO/Orphanet_320370 node Orphanet_65284 Biotin-responsive basal ganglia disease null http://www.orpha.net/ORDO/Orphanet_65284 node Orphanet_275 Severe combined immunodeficiency due to DCLRE1C deficiency null http://www.orpha.net/ORDO/Orphanet_275 node EFO_0002095 22Rv1 null http://www.ebi.ac.uk/efo/EFO_0002095 node Orphanet_313850 Infantile cerebellar-retinal degeneration null http://www.orpha.net/ORDO/Orphanet_313850 node CHEBI_17698 chloramphenicol null http://purl.obolibrary.org/obo/CHEBI_17698 node EFO_1000957 hairy tongue null http://www.ebi.ac.uk/efo/EFO_1000957 node EFO_0009834 respiratory process null http://www.ebi.ac.uk/efo/EFO_0009834 node EFO_0000909 obsolete_forebrain null http://www.ebi.ac.uk/efo/EFO_0000909 node EFO_0002294 NCI-H508 null http://www.ebi.ac.uk/efo/EFO_0002294 node EFO_0001367 obsolete_embryo stage null http://www.ebi.ac.uk/efo/EFO_0001367 node Orphanet_93173 Bilateral renal dysplasia null http://www.orpha.net/ORDO/Orphanet_93173 node EFO_0000191 MALT lymphoma null http://www.ebi.ac.uk/efo/EFO_0000191 node NCBITaxon_119912 Salmonella enterica subsp. enterica serovar Choleraesuis null http://purl.obolibrary.org/obo/NCBITaxon_119912 node Orphanet_3409 Urban-Rogers-Meyer syndrome null http://www.orpha.net/ORDO/Orphanet_3409 node Orphanet_280200 Microform holoprosencephaly null http://www.orpha.net/ORDO/Orphanet_280200 node UBERON_0004189 glomerular endothelium null http://purl.obolibrary.org/obo/UBERON_0004189 node Orphanet_1369 Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy null http://www.orpha.net/ORDO/Orphanet_1369 node EFO_0010937 comparative genomic hybridization (CGH) null http://www.ebi.ac.uk/efo/EFO_0010937 node CL_0000835 myeloblast null http://purl.obolibrary.org/obo/CL_0000835 node EFO_0005627 perianal Crohn's disease null http://www.ebi.ac.uk/efo/EFO_0005627 node Orphanet_369962 Methylmalonic acidemia with homocystinuria, type cblX null http://www.orpha.net/ORDO/Orphanet_369962 node NCBITaxon_948 Anaplasma phagocytophilum null http://purl.obolibrary.org/obo/NCBITaxon_948 node EFO_0007932 multiple keratinocyte carcinoma susceptibility measurement null http://www.ebi.ac.uk/efo/EFO_0007932 node EFO_1000928 Erysipelothrix rhusiopathiae infectious disease null http://www.ebi.ac.uk/efo/EFO_1000928 node EFO_0003030 abscess null http://www.ebi.ac.uk/efo/EFO_0003030 node CHEBI_17203 L-proline null http://purl.obolibrary.org/obo/CHEBI_17203 node CL_0000442 follicular dendritic cell Due to its unique lineage and distinct function, this is not a type of dendritic cell; CL:0000451. http://purl.obolibrary.org/obo/CL_0000442 node EFO_0004187 cDNA library construction null http://www.ebi.ac.uk/efo/EFO_0004187 node CL_0000923 CD4-positive type I NK T cell null http://purl.obolibrary.org/obo/CL_0000923 node EFO_0004668 array specific design null http://www.ebi.ac.uk/efo/EFO_0004668 node EFO_0005715 WERI-Rb-1 null http://www.ebi.ac.uk/efo/EFO_0005715 node MONDO_0016707 astroblastoma null http://purl.obolibrary.org/obo/MONDO_0016707 node EFO_1002025 measles null http://www.ebi.ac.uk/efo/EFO_1002025 node EFO_0010158 sugar consumption measurement null http://www.ebi.ac.uk/efo/EFO_0010158 node CHEBI_46195 paracetamol null http://purl.obolibrary.org/obo/CHEBI_46195 node CL_0000559 promonocyte Morphology: Mononuclear cell, diameter 14-18 _M, fine azurophilic granules; markers: CD11b (shared with many other myeloid cells); location: Adult: bone marrow; Fetal: Liver, Yolk Sac; role or process: hematopoiesis, monocyte development; lineage: hematopoietic, myeloid. http://purl.obolibrary.org/obo/CL_0000559 node CHEBI_57987 2-hydroxyadipate(2-) null http://purl.obolibrary.org/obo/CHEBI_57987 node EFO_0005936 underweight body mass index status null http://www.ebi.ac.uk/efo/EFO_0005936 node EFO_0008782 INSeq null http://www.ebi.ac.uk/efo/EFO_0008782 node Orphanet_295116 Adactyly of foot, unilateral null http://www.orpha.net/ORDO/Orphanet_295116 node CHEBI_74670 1-oleoyl-2-linoleoyl-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_74670 node MONDO_0002486 lobular neoplasia null http://purl.obolibrary.org/obo/MONDO_0002486 node EFO_0004275 obsolete_sick sinus syndrome null http://www.ebi.ac.uk/efo/EFO_0004275 node EFO_0000404 diffuse scleroderma null http://www.ebi.ac.uk/efo/EFO_0000404 node EFO_1001066 nut allergic reaction null http://www.ebi.ac.uk/efo/EFO_1001066 node CHEBI_18053 1-aminocyclopropane-1-carboxylic acid null http://purl.obolibrary.org/obo/CHEBI_18053 node EFO_0004088 JT709 null http://www.ebi.ac.uk/efo/EFO_0004088 node UBERON_0006483 Brodmann (1909) area 46 null http://purl.obolibrary.org/obo/UBERON_0006483 node OBI_0001700 immunoprecipitation assay null http://purl.obolibrary.org/obo/OBI_0001700 node EFO_0005819 Kc167 null http://www.ebi.ac.uk/efo/EFO_0005819 node EFO_0008870 Profiler null http://www.ebi.ac.uk/efo/EFO_0008870 node MONDO_0002093 acanthoma (disease) null http://purl.obolibrary.org/obo/MONDO_0002093 node Orphanet_262923 Partial duplication of the long arm of chromosome 11 null http://www.orpha.net/ORDO/Orphanet_262923 node Orphanet_263440 Neuroacanthocytosis null http://www.orpha.net/ORDO/Orphanet_263440 node UBERON_0005573 rhombomere 3 floor plate null http://purl.obolibrary.org/obo/UBERON_0005573 node MONDO_0000625 benign male reproductive system neoplasm null http://purl.obolibrary.org/obo/MONDO_0000625 node MONDO_0012320 migraine, familial hemiplegic, 3 null http://purl.obolibrary.org/obo/MONDO_0012320 node MONDO_0011216 hemochromatosis type 2A null http://purl.obolibrary.org/obo/MONDO_0011216 node NCBITaxon_10044 Phodopus sungorus null http://purl.obolibrary.org/obo/NCBITaxon_10044 node HP_0003390 Sensory axonal neuropathy null http://purl.obolibrary.org/obo/HP_0003390 node EFO_0002876 YCC1 null http://www.ebi.ac.uk/efo/EFO_0002876 node EFO_0006500 tubular adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0006500 node EFO_0005907 OCI-LY1 null http://www.ebi.ac.uk/efo/EFO_0005907 node Orphanet_157794 Hereditary mixed polyposis syndrome null http://www.orpha.net/ORDO/Orphanet_157794 node MONDO_0002181 exostosis Editor note: compare with osteophyte http://purl.obolibrary.org/obo/MONDO_0002181 node EFO_0009549 female reproductive system disease null http://www.ebi.ac.uk/efo/EFO_0009549 node EFO_0007755 atopic march null http://www.ebi.ac.uk/efo/EFO_0007755 node EFO_0006828 plasma renin activity measurement null http://www.ebi.ac.uk/efo/EFO_0006828 node Orphanet_464 Incontinentia pigmenti null http://www.orpha.net/ORDO/Orphanet_464 node MONDO_0000508 syndromic intellectual disability null http://purl.obolibrary.org/obo/MONDO_0000508 node EFO_0007568 HA-Flag protein fusion library null http://www.ebi.ac.uk/efo/EFO_0007568 node Orphanet_2573 Moyamoya disease null http://www.orpha.net/ORDO/Orphanet_2573 node MONDO_0002883 intestinal neuroendocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0002883 node EFO_0003891 biliary tract neoplasm null http://www.ebi.ac.uk/efo/EFO_0003891 node MONDO_0003035 ovarian angiosarcoma null http://purl.obolibrary.org/obo/MONDO_0003035 node MONDO_0000314 primary bacterial infectious disease null http://purl.obolibrary.org/obo/MONDO_0000314 node Orphanet_552 MODY Maturity onset diabetes of the young (MODY) MODY is a rare form of diabetes which is different from both Type 1 and Type 2 diabetes, and runs strongly in families. MODY is caused by a mutation (or change) in a single gene. (https://www.diabetes.org.uk/Diabetes-the-basics/Other-types-of-diabetes/MODY/) http://www.orpha.net/ORDO/Orphanet_552 node MONDO_0000137 leukoencephalopathy, megalencephalic null http://purl.obolibrary.org/obo/MONDO_0000137 node MONDO_0004928 lymph node disease null http://purl.obolibrary.org/obo/MONDO_0004928 node EFO_0007656 plasma clusterin measurement null http://www.ebi.ac.uk/efo/EFO_0007656 node MONDO_0003739 selective immunoglobulin deficiency disease null http://purl.obolibrary.org/obo/MONDO_0003739 node Orphanet_98975 Congenital hereditary endothelial dystrophy type I null http://www.orpha.net/ORDO/Orphanet_98975 node UBERON_2000887 floor plate neural rod null http://purl.obolibrary.org/obo/UBERON_2000887 node Orphanet_773 Refsum disease Curator note: do not confuse with Infantial Refsum, see https://omim.org/entry/266500 http://www.orpha.net/ORDO/Orphanet_773 node Orphanet_371212 Congenital disorder of glycosylation with deafness as a major feature null http://www.orpha.net/ORDO/Orphanet_371212 node MONDO_0021004 brachydactyly (disease) null http://purl.obolibrary.org/obo/MONDO_0021004 node Orphanet_98798 Isochromosomy Yq null http://www.orpha.net/ORDO/Orphanet_98798 node EFO_0001410 obsolete_arm null http://www.ebi.ac.uk/efo/EFO_0001410 node CHEBI_24527 herbicide null http://purl.obolibrary.org/obo/CHEBI_24527 node MONDO_0007500 ear malformation null http://purl.obolibrary.org/obo/MONDO_0007500 node EFO_1000427 Ovarian Serous Adenocarcinofibroma null http://www.ebi.ac.uk/efo/EFO_1000427 node EFO_0003580 obsolete_rhombomere 5 null http://www.ebi.ac.uk/efo/EFO_0003580 node MONDO_0003827 transient hypogammaglobulinemia null http://purl.obolibrary.org/obo/MONDO_0003827 node EFO_0003449 obsolete_presumptive rhombomere 5 null http://www.ebi.ac.uk/efo/EFO_0003449 node CHEBI_24432 biological role null http://purl.obolibrary.org/obo/CHEBI_24432 node GO_0044260 cellular macromolecule metabolic process null http://purl.obolibrary.org/obo/GO_0044260 node Orphanet_861 Treacher-Collins syndrome null http://www.orpha.net/ORDO/Orphanet_861 node Orphanet_93955 Benign essential blepharospasm null http://www.orpha.net/ORDO/Orphanet_93955 node NCBITaxon_3691 Populus nigra null http://purl.obolibrary.org/obo/NCBITaxon_3691 node MONDO_0014418 myopathy, centronuclear, 5 null http://purl.obolibrary.org/obo/MONDO_0014418 node EFO_0008304 trefoil factor 3 measurement null http://www.ebi.ac.uk/efo/EFO_0008304 node Orphanet_391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome null http://www.orpha.net/ORDO/Orphanet_391348 node MONDO_0004617 recurrent hypersomnia null http://purl.obolibrary.org/obo/MONDO_0004617 node EFO_1000648 developmental dysplasia of the hip null http://www.ebi.ac.uk/efo/EFO_1000648 node Orphanet_2831 Rhizomelic dysplasia, Patterson-Lowry type null http://www.orpha.net/ORDO/Orphanet_2831 node EFO_0008117 elafin measurement null http://www.ebi.ac.uk/efo/EFO_0008117 node MONDO_0001230 acute orbital inflammation null http://purl.obolibrary.org/obo/MONDO_0001230 node NCBITaxon_11292 Rabies virus null http://purl.obolibrary.org/obo/NCBITaxon_11292 node EFO_0010745 semen measurement null http://www.ebi.ac.uk/efo/EFO_0010745 node EFO_1000034 indeterminate colitis PMID:22347823 http://www.ebi.ac.uk/efo/EFO_1000034 node MONDO_0032918 developmental and epileptic encephalopathy, 84 null http://purl.obolibrary.org/obo/MONDO_0032918 node EFO_0004464 brain measurement null http://www.ebi.ac.uk/efo/EFO_0004464 node EFO_0003537 obsolete_marginal blastomere null http://www.ebi.ac.uk/efo/EFO_0003537 node Orphanet_1927 Emery-Nelson syndrome null http://www.orpha.net/ORDO/Orphanet_1927 node EFO_0004277 brain infarction null http://www.ebi.ac.uk/efo/EFO_0004277 node EFO_1001840 respiratory paralysis null http://www.ebi.ac.uk/efo/EFO_1001840 node EFO_1000255 Fibroblastic Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000255 node EFO_0000972 obsolete_unfertilized egg null http://www.ebi.ac.uk/efo/EFO_0000972 node Orphanet_231144 Silver-Russell syndrome due to 11p15 microduplication null http://www.orpha.net/ORDO/Orphanet_231144 node FMA_3884 distal portion of anterior interventricular branch of left coronary artery null http://purl.obolibrary.org/obo/FMA_3884 node EFO_1000736 mongolian spot null http://www.ebi.ac.uk/efo/EFO_1000736 node EFO_0003758 autism null http://www.ebi.ac.uk/efo/EFO_0003758 node UBERON_0001159 sigmoid colon null http://purl.obolibrary.org/obo/UBERON_0001159 node EFO_0008205 left ventricular structural measurement null http://www.ebi.ac.uk/efo/EFO_0008205 node EFO_0000207 obsolete_T-cell lymphoblastic lymphoma null http://www.ebi.ac.uk/efo/EFO_0000207 node MONDO_0020601 mosquito-borne viral encephalitis null http://purl.obolibrary.org/obo/MONDO_0020601 node Orphanet_99043 Double outlet right ventricle, Fallot type null http://www.orpha.net/ORDO/Orphanet_99043 node EFO_0010833 uterine corpus undifferentiated sarcoma null http://www.ebi.ac.uk/efo/EFO_0010833 node EFO_1000549 Splenic Mantle Cell Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000549 node MONDO_0015158 unexplained periodic fever syndrome null http://purl.obolibrary.org/obo/MONDO_0015158 node EFO_0002097 639V null http://www.ebi.ac.uk/efo/EFO_0002097 node EFO_0005318 axial length measurement null http://www.ebi.ac.uk/efo/EFO_0005318 node HP_0001919 Acute kidney injury Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies. http://purl.obolibrary.org/obo/HP_0001919 node Orphanet_93316 Spondylometaphyseal dysplasia, Schmidt type null http://www.orpha.net/ORDO/Orphanet_93316 node EFO_0004950 date of birth null http://www.ebi.ac.uk/efo/EFO_0004950 node UBERON_2001314 posterior lateral line ganglion null http://purl.obolibrary.org/obo/UBERON_2001314 node NCBITaxon_3635 Gossypium hirsutum null http://purl.obolibrary.org/obo/NCBITaxon_3635 node CHEBI_2766 aphidicolin null http://purl.obolibrary.org/obo/CHEBI_2766 node NCBITaxon_2708 Citrus limon null http://purl.obolibrary.org/obo/NCBITaxon_2708 node EFO_1000343 obsolete_lympoid tissue null http://www.ebi.ac.uk/efo/EFO_1000343 node EFO_1000138 Borderline Ovarian Mucinous Tumor null http://www.ebi.ac.uk/efo/EFO_1000138 node Orphanet_31154 Hypobetalipoproteinemia null http://www.orpha.net/ORDO/Orphanet_31154 node EFO_0010235 response to proton-pump inhibitor null http://www.ebi.ac.uk/efo/EFO_0010235 node EFO_0006692 NCI-H345 null http://www.ebi.ac.uk/efo/EFO_0006692 node EFO_0010716 coinfection null http://www.ebi.ac.uk/efo/EFO_0010716 node CL_0000614 basophilic myelocyte null http://purl.obolibrary.org/obo/CL_0000614 node EFO_0005406 colorectal adenoma null http://www.ebi.ac.uk/efo/EFO_0005406 node MONDO_0000396 spastic cerebral palsy null http://purl.obolibrary.org/obo/MONDO_0000396 node EFO_0002204 HT3 null http://www.ebi.ac.uk/efo/EFO_0002204 node EFO_0000193 obsolete_MMHCC part Obsolete: No longer required in EFO http://www.ebi.ac.uk/efo/EFO_0000193 node EFO_0000108 obsolete_olfactory lobe null http://www.ebi.ac.uk/efo/EFO_0000108 node NCBITaxon_13489 Dicentrarchus labrax null http://purl.obolibrary.org/obo/NCBITaxon_13489 node MONDO_0054785 multiple mitochondrial dysfunctions syndrome 6 null http://purl.obolibrary.org/obo/MONDO_0054785 node NCIT_C1178 Tilarginine A pan-nitric oxide synthase (NOS) inhibitor, with potential immunomodulating and antineoplastic activities. Upon administration, tilarginine binds to and inhibits NOS, a free radical signaling molecule that promotes angiogenesis, metastasis, and immunosuppression in the tumor microenvironment (TME). Reduction in NOS activity may abrogate the immunosuppressive TME, enhance tumor antigen-specific immune response and inhibit tumor cell proliferation. http://purl.obolibrary.org/obo/NCIT_C1178 node EFO_1001330 Foster-Kennedy syndrome null http://www.ebi.ac.uk/efo/EFO_1001330 node MONDO_0021953 tuberculous fibrosis of lung null http://purl.obolibrary.org/obo/MONDO_0021953 node EFO_0005219 TraDIS sequencing null http://www.ebi.ac.uk/efo/EFO_0005219 node CLO_0016636 GM17776 null http://purl.obolibrary.org/obo/CLO_0016636 node MONDO_0007494 episodic kinesigenic dyskinesia 1 null http://purl.obolibrary.org/obo/MONDO_0007494 node EFO_0005760 serum carcinoembryonic antigen measurement null http://www.ebi.ac.uk/efo/EFO_0005760 node EFO_0004833 neutrophil count null http://www.ebi.ac.uk/efo/EFO_0004833 node BFO_0000019 quality null http://purl.obolibrary.org/obo/BFO_0000019 node EFO_0003729 obsolete_lung (Bos taurus) null http://www.ebi.ac.uk/efo/EFO_0003729 node MONDO_0021086 gingival neoplasm null http://purl.obolibrary.org/obo/MONDO_0021086 node HP_0002032 Esophageal atresia null http://purl.obolibrary.org/obo/HP_0002032 node EFO_0010323 postcentral gyrus volume measurement null http://www.ebi.ac.uk/efo/EFO_0010323 node MONDO_0017027 primary interstitial lung disease specific to adulthood null http://purl.obolibrary.org/obo/MONDO_0017027 node Orphanet_99014 X-linked Charcot-Marie-Tooth disease type 5 null http://www.orpha.net/ORDO/Orphanet_99014 node Orphanet_268868 Isolated amyelia null http://www.orpha.net/ORDO/Orphanet_268868 node CL_0000034 stem cell null http://purl.obolibrary.org/obo/CL_0000034 node NCBITaxon_29158 Mytilus galloprovincialis null http://purl.obolibrary.org/obo/NCBITaxon_29158 node EFO_0003032 anaplastic large cell lymphoma null http://www.ebi.ac.uk/efo/EFO_0003032 node EFO_0002105 A498 null http://www.ebi.ac.uk/efo/EFO_0002105 node MONDO_0001724 supraglottis cancer null http://purl.obolibrary.org/obo/MONDO_0001724 node Orphanet_1020 Early-onset autosomal dominant Alzheimer disease null http://www.orpha.net/ORDO/Orphanet_1020 node HP_0002120 Cerebral cortical atrophy Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging. http://purl.obolibrary.org/obo/HP_0002120 node Orphanet_271832 Genetic soft tissue tumor null http://www.orpha.net/ORDO/Orphanet_271832 node GO_0050789 regulation of biological process null http://purl.obolibrary.org/obo/GO_0050789 node Orphanet_324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency null http://www.orpha.net/ORDO/Orphanet_324262 node BTO_0001030 J774.2 cell null http://purl.obolibrary.org/obo/BTO_0001030 node UBERON_0000915 thoracic segment of trunk null http://purl.obolibrary.org/obo/UBERON_0000915 node Orphanet_2107 Hall-Riggs syndrome null http://www.orpha.net/ORDO/Orphanet_2107 node Orphanet_207098 Qualitative or quantitative defects of integrin alpha-7 null http://www.orpha.net/ORDO/Orphanet_207098 node Orphanet_199315 Familial clubfoot with or without associated lower limb anomalies null http://www.orpha.net/ORDO/Orphanet_199315 node EFO_0008784 LAM-HTGTS null http://www.ebi.ac.uk/efo/EFO_0008784 node GO_0007586 digestion null http://purl.obolibrary.org/obo/GO_0007586 node MONDO_0001812 parasitic eyelid infestation null http://purl.obolibrary.org/obo/MONDO_0001812 node Orphanet_86818 Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis null http://www.orpha.net/ORDO/Orphanet_86818 node MONDO_0000588 autoimmune disease of gastrointestinal tract null http://purl.obolibrary.org/obo/MONDO_0000588 node Orphanet_98771 Spinocerebellar ataxia type 18 null http://www.orpha.net/ORDO/Orphanet_98771 node Orphanet_98566 Syndromic palpebral coloboma null http://www.orpha.net/ORDO/Orphanet_98566 node Orphanet_314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome null http://www.orpha.net/ORDO/Orphanet_314002 node CHEBI_30762 salicylate null http://purl.obolibrary.org/obo/CHEBI_30762 node EFO_0006519 MMR-related febrile seizures null http://www.ebi.ac.uk/efo/EFO_0006519 node MONDO_0004891 hyperopia null http://purl.obolibrary.org/obo/MONDO_0004891 node Orphanet_2978 Chronic intestinal pseudoobstruction null http://www.orpha.net/ORDO/Orphanet_2978 node EFO_0008872 Pseudo-seq null http://www.ebi.ac.uk/efo/EFO_0008872 node Orphanet_309340 Disorder of lysosomal-related organelles null http://www.orpha.net/ORDO/Orphanet_309340 node NCBITaxon_238245 Stenocarpella maydis null http://purl.obolibrary.org/obo/NCBITaxon_238245 node Orphanet_86906 Hypothalamic hamartomas with gelastic seizures null http://www.orpha.net/ORDO/Orphanet_86906 node EFO_0002198 HPAFII null http://www.ebi.ac.uk/efo/EFO_0002198 node EFO_0008685 ChIP-BS-seq null http://www.ebi.ac.uk/efo/EFO_0008685 node EFO_0000687 obsolete_sample factor synonym with material entity http://www.ebi.ac.uk/efo/EFO_0000687 node CHEBI_27300 Vitamin D null http://purl.obolibrary.org/obo/CHEBI_27300 node EFO_1000397 Non-Cutaneous Melanoma null http://www.ebi.ac.uk/efo/EFO_1000397 node Orphanet_79144 Congenital onychodysplasia Editor note: Orphanet classifies as both syndromic and isolated. See https://github.com/monarch-initiative/mondo-build/issues/49 http://www.orpha.net/ORDO/Orphanet_79144 node EFO_0008296 tenascin measurement null http://www.ebi.ac.uk/efo/EFO_0008296 node NCBITaxon_50591 Lithognathus mormyrus null http://purl.obolibrary.org/obo/NCBITaxon_50591 node MONDO_0015932 non-syndromic urogenital tract malformation of female null http://purl.obolibrary.org/obo/MONDO_0015932 node EFO_0002286 NCI-H23 null http://www.ebi.ac.uk/efo/EFO_0002286 node EFO_0001359 type I diabetes mellitus null http://www.ebi.ac.uk/efo/EFO_0001359 node PATO_0000169 viability null http://purl.obolibrary.org/obo/PATO_0000169 node GO_0042170 plastid membrane null http://purl.obolibrary.org/obo/GO_0042170 node Orphanet_69739 Athabaskan brainstem dysgenesis syndrome null http://www.orpha.net/ORDO/Orphanet_69739 node NCBITaxon_56364 Agrotis ipsilon null http://purl.obolibrary.org/obo/NCBITaxon_56364 node EFO_0000775 Whipple's disease null http://www.ebi.ac.uk/efo/EFO_0000775 node UBERON_0000211 ligament null http://purl.obolibrary.org/obo/UBERON_0000211 node EFO_0008610 ocular cicatricial pemphigoid null http://www.ebi.ac.uk/efo/EFO_0008610 node BTO_0000515 haustorium null http://purl.obolibrary.org/obo/BTO_0000515 node EFO_0002099 769P null http://www.ebi.ac.uk/efo/EFO_0002099 node Orphanet_96121 7q11.23 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_96121 node HP_0004936 Venous thrombosis null http://purl.obolibrary.org/obo/HP_0004936 node Orphanet_85328 X-linked intellectual disability, Turner type null http://www.orpha.net/ORDO/Orphanet_85328 node MONDO_0002336 inflammatory and toxic neuropathy Editor note: consider obsoleting http://purl.obolibrary.org/obo/MONDO_0002336 node EFO_0008457 cannabis dependence measurement null http://www.ebi.ac.uk/efo/EFO_0008457 node EFO_0008561 diaphragmatic hernia null http://www.ebi.ac.uk/efo/EFO_0008561 node Orphanet_67044 Thrombocytopenia with congenital dyserythropoietic anemia null http://www.orpha.net/ORDO/Orphanet_67044 node Orphanet_313781 20p13 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_313781 node MONDO_0002241 factor XIII deficiency null http://purl.obolibrary.org/obo/MONDO_0002241 node EFO_0008384 tumor necrosis factor receptor II measurement null http://www.ebi.ac.uk/efo/EFO_0008384 node EFO_0008197 killer cell immunoglobulin-like receptor 2DL4 measurement null http://www.ebi.ac.uk/efo/EFO_0008197 node CHEBI_132004 cholesteryl octadecatrienoate null http://purl.obolibrary.org/obo/CHEBI_132004 node EFO_0003801 interleukin-19 (Homo sapiens) null http://www.ebi.ac.uk/efo/EFO_0003801 node Orphanet_413 Hyperlipoproteinemia type 4 null http://www.orpha.net/ORDO/Orphanet_413 node Orphanet_2522 Microcephaly - cervical spine fusion anomalies null http://www.orpha.net/ORDO/Orphanet_2522 node CHEBI_73990 2-oleoylglycerol null http://purl.obolibrary.org/obo/CHEBI_73990 node EFO_0002772 assay by molecule null http://www.ebi.ac.uk/efo/EFO_0002772 node GO_1901563 response to camptothecin null http://purl.obolibrary.org/obo/GO_1901563 node EFO_0007517 toxoplasmosis null http://www.ebi.ac.uk/efo/EFO_0007517 node EFO_0003614 obsolete_cranial division of the internal carotid artery null http://www.ebi.ac.uk/efo/EFO_0003614 node CHEBI_35456 cadmium dichloride null http://purl.obolibrary.org/obo/CHEBI_35456 node CHEBI_63938 cadmium dichloride hemipentahydrate null http://purl.obolibrary.org/obo/CHEBI_63938 node Orphanet_226 Dihydropteridine reductase deficiency null http://www.orpha.net/ORDO/Orphanet_226 node EFO_0002595 obsolete_renal branch of vagus nerve null http://www.ebi.ac.uk/efo/EFO_0002595 node HP_0100704 Cerebral visual impairment The term cortical/cerebral visual impairment (CVI) was coined to describe damage to visual pathways and structures occurring during early perinatal development. The term cortical visual impairment was originally proposed to describe visual dysfunction in pediatric populations of non-ocular cause, and its presumed association with damage to early visual cortical areas. However, as further characterization of this condition progressed, it became evident that CVI was often associated with damage to sites beyond early visual cortex including subcortical structures, white matter pathways, as well as higher-order associative processing areas of the cortex. Thus, the word cortical has been viewed as somewhat of a misnomer, and there has been the suggestion that the term cerebral would be a more encompassing and appropriate term. Although there is still a debate in the community about the most appropriate nomenclature, the HPO will regard these terms as synonymous. It is recommended that more specific terms be used as appropriate for annotation. http://purl.obolibrary.org/obo/HP_0100704 node NCBITaxon_11103 Hepatitis C virus null http://purl.obolibrary.org/obo/NCBITaxon_11103 node EFO_0003918 obstructive sleep apnea null http://www.ebi.ac.uk/efo/EFO_0003918 node FBbt_00005442 hypopharynx anlage null http://purl.obolibrary.org/obo/FBbt_00005442 node EFO_1000794 acute kidney tubular necrosis null http://www.ebi.ac.uk/efo/EFO_1000794 node EFO_1000813 anthracosilicosis null http://www.ebi.ac.uk/efo/EFO_1000813 node EFO_0010891 scATAC-seq null http://www.ebi.ac.uk/efo/EFO_0010891 node Orphanet_281241 Autosomal ichthyosis syndrome with fatal disease course null http://www.orpha.net/ORDO/Orphanet_281241 node MONDO_0017595 aggressive B-cell non-Hodgkin lymphoma null http://purl.obolibrary.org/obo/MONDO_0017595 node Orphanet_209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - null http://www.orpha.net/ORDO/Orphanet_209203 node MONDO_0004389 mite infestation null http://purl.obolibrary.org/obo/MONDO_0004389 node GO_0046390 ribose phosphate biosynthetic process null http://purl.obolibrary.org/obo/GO_0046390 node UBERON_0001723 tongue null http://purl.obolibrary.org/obo/UBERON_0001723 node EFO_0005376 UACC-257 null http://www.ebi.ac.uk/efo/EFO_0005376 node EFO_0006987 C24 ecotype null http://www.ebi.ac.uk/efo/EFO_0006987 node EFO_0003582 obsolete_somite 12 null http://www.ebi.ac.uk/efo/EFO_0003582 node Orphanet_217399 Congenital insensitivity to pain with hyperhidrosis null http://www.orpha.net/ORDO/Orphanet_217399 node EFO_0003702 obsolete_anterior lateral mesoderm null http://www.ebi.ac.uk/efo/EFO_0003702 node EFO_0007605 Blackmount ecotype null http://www.ebi.ac.uk/efo/EFO_0007605 node Orphanet_314 Erythroderma desquamativum null http://www.orpha.net/ORDO/Orphanet_314 node NCBITaxon_33653 Cafeteria roenbergensis null http://purl.obolibrary.org/obo/NCBITaxon_33653 node Orphanet_93613 Cystinuria type B null http://www.orpha.net/ORDO/Orphanet_93613 node Orphanet_722 Hypoplasminogenemia null http://www.orpha.net/ORDO/Orphanet_722 node CLO_0013895 GM17212 null http://purl.obolibrary.org/obo/CLO_0013895 node Orphanet_137 Congenital disorder of glycosylation null http://www.orpha.net/ORDO/Orphanet_137 node EFO_0001112 GM07034 null http://www.ebi.ac.uk/efo/EFO_0001112 node GO_0009526 plastid envelope null http://purl.obolibrary.org/obo/GO_0009526 node PO_0030027 thallus null http://purl.obolibrary.org/obo/PO_0030027 node Orphanet_75496 Ehlers-Danlos syndrome, progeroid type null http://www.orpha.net/ORDO/Orphanet_75496 node MONDO_0020129 acquired motor neuron disease null http://purl.obolibrary.org/obo/MONDO_0020129 node EFO_0001041 obsolete_bark null http://www.ebi.ac.uk/efo/EFO_0001041 node EFO_1000901 discrete subaortic stenosis null http://www.ebi.ac.uk/efo/EFO_1000901 node EFO_0005182 N'Dama null http://www.ebi.ac.uk/efo/EFO_0005182 node EFO_0004641 white matter integrity null http://www.ebi.ac.uk/efo/EFO_0004641 node EFO_0000270 asthma null http://www.ebi.ac.uk/efo/EFO_0000270 node FBbt_00000109 mesectoderm anlage null http://purl.obolibrary.org/obo/FBbt_00000109 node Orphanet_178330 Heinz body anemia null http://www.orpha.net/ORDO/Orphanet_178330 node NCBITaxon_1428 Bacillus thuringiensis null http://purl.obolibrary.org/obo/NCBITaxon_1428 node NCBITaxon_119219 Cupriavidus metallidurans null http://purl.obolibrary.org/obo/NCBITaxon_119219 node EFO_0000598 129S6 null http://www.ebi.ac.uk/efo/EFO_0000598 node HP_0002321 Vertigo null http://purl.obolibrary.org/obo/HP_0002321 node NCBITaxon_4547 Saccharum officinarum null http://purl.obolibrary.org/obo/NCBITaxon_4547 node EFO_1001279 Brown-Sequard Syndrome null http://www.ebi.ac.uk/efo/EFO_1001279 node CHEBI_27780 detergent role null http://purl.obolibrary.org/obo/CHEBI_27780 node Orphanet_71289 Radio-ulnar synostosis - amegakaryocytic thrombocytopenia null http://www.orpha.net/ORDO/Orphanet_71289 node EFO_0005093 hip circumference null http://www.ebi.ac.uk/efo/EFO_0005093 node Orphanet_2077 German syndrome null http://www.orpha.net/ORDO/Orphanet_2077 node EFO_0007929 triglyceride:HDL cholesterol ratio null http://www.ebi.ac.uk/efo/EFO_0007929 node EFO_0005491 CB1489 null http://www.ebi.ac.uk/efo/EFO_0005491 node IAO_0000027 data item null http://purl.obolibrary.org/obo/IAO_0000027 node Orphanet_295063 Humeral agenesis/hypoplasia, bilateral null http://www.orpha.net/ORDO/Orphanet_295063 node NCBITaxon_128735 Rosa hybrid cultivar null http://purl.obolibrary.org/obo/NCBITaxon_128735 node CHEBI_9467 tetrabenazine null http://purl.obolibrary.org/obo/CHEBI_9467 node EFO_0010436 triacylglycerol 56:9 measurement null http://www.ebi.ac.uk/efo/EFO_0010436 node EFO_0004226 Creutzfeldt Jacob Disease null http://www.ebi.ac.uk/efo/EFO_0004226 node MONDO_0021251 endometrium neoplasm null http://purl.obolibrary.org/obo/MONDO_0021251 node MONDO_0019755 developmental defect during embryogenesis null http://purl.obolibrary.org/obo/MONDO_0019755 node EFO_0006694 NCI-H596 null http://www.ebi.ac.uk/efo/EFO_0006694 node CLO_0013213 GM17271 null http://purl.obolibrary.org/obo/CLO_0013213 node EFO_0000921 obsolete_tegmentum null http://www.ebi.ac.uk/efo/EFO_0000921 node EFO_0004131 obsolete_Angelman syndrome null http://www.ebi.ac.uk/efo/EFO_0004131 node Orphanet_247198 Progressive cerebello-cerebral atrophy null http://www.orpha.net/ORDO/Orphanet_247198 node Orphanet_98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder null http://www.orpha.net/ORDO/Orphanet_98374 node EFO_0006531 888-mel null http://www.ebi.ac.uk/efo/EFO_0006531 node Orphanet_2990 Autosomal recessive multiple pterygium syndrome null http://www.orpha.net/ORDO/Orphanet_2990 node EFO_1001425 Skull Fractures null http://www.ebi.ac.uk/efo/EFO_1001425 node Orphanet_316244 Partial deletion of the short arm of chromosome 12 null http://www.orpha.net/ORDO/Orphanet_316244 node NCBITaxon_198214 Shigella flexneri 2a str. 301 null http://purl.obolibrary.org/obo/NCBITaxon_198214 node EFO_0004928 T stage null http://www.ebi.ac.uk/efo/EFO_0004928 node CL_0002425 early T lineage precursor ETPs are reportedly CD1a-negative, CD4-negative, CD7-positive, CD8a-negative, CD8b-negative, CD33-low, CD34-high, CD38-low, CD45RA-positive, and CD45RO-negative. http://purl.obolibrary.org/obo/CL_0002425 node MONDO_0000870 childhood acute lymphoblastic leukemia null http://purl.obolibrary.org/obo/MONDO_0000870 node EFO_0010043 Stable-Seq null http://www.ebi.ac.uk/efo/EFO_0010043 node EFO_0010524 pimelic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010524 node MONDO_0024482 eccrine sweat gland hamartoma null http://purl.obolibrary.org/obo/MONDO_0024482 node EFO_0009971 TSA-seq null http://www.ebi.ac.uk/efo/EFO_0009971 node EFO_1000895 desmoplastic small round cell tumor null http://www.ebi.ac.uk/efo/EFO_1000895 node HP_0000857 Neonatal insulin-dependent diabetes mellitus null http://purl.obolibrary.org/obo/HP_0000857 node CHEBI_20712 6-deoxocastasterone null http://purl.obolibrary.org/obo/CHEBI_20712 node EFO_1001513 liver neoplasm Editor note: consider merging with liver and intrahepatic bile duct neoplasm http://www.ebi.ac.uk/efo/EFO_1001513 node EFO_0009794 NRF2 measurement null http://www.ebi.ac.uk/efo/EFO_0009794 node EFO_0007381 multidrug-resistant tuberculosis null http://www.ebi.ac.uk/efo/EFO_0007381 node CL_0002393 intermediate monocyte null http://purl.obolibrary.org/obo/CL_0002393 node CL_0002513 Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell null http://purl.obolibrary.org/obo/CL_0002513 node CHEBI_17268 myo-inositol null http://purl.obolibrary.org/obo/CHEBI_17268 node EFO_0006279 HPAF1 null http://www.ebi.ac.uk/efo/EFO_0006279 node NCBITaxon_783 Rickettsia rickettsii null http://purl.obolibrary.org/obo/NCBITaxon_783 node EFO_0010131 decreased walking ability null http://www.ebi.ac.uk/efo/EFO_0010131 node MONDO_0001549 hemolytic-uremic syndrome null http://purl.obolibrary.org/obo/MONDO_0001549 node CHEBI_42017 2,4-dinitrophenol null http://purl.obolibrary.org/obo/CHEBI_42017 node CHEBI_18220 isoflavone null http://purl.obolibrary.org/obo/CHEBI_18220 node CHEBI_61058 alpha-methyl-L-dopa null http://purl.obolibrary.org/obo/CHEBI_61058 node EFO_1000983 inferior myocardial infarction null http://www.ebi.ac.uk/efo/EFO_1000983 node MONDO_0002178 placenta cancer null http://purl.obolibrary.org/obo/MONDO_0002178 node HP_0001685 Myocardial fibrosis Myocardial fibrosis disrupts the myocardial architecture, contributes to myocardial disarray, and determines mechanical, electrical, and vasomotor dysfunction, thus promoting the progression of cardiac diseases to heart failure. http://purl.obolibrary.org/obo/HP_0001685 node MONDO_0045018 creatine biosynthetic process disease null http://purl.obolibrary.org/obo/MONDO_0045018 node MONDO_0004483 thyroid gland oncocytic adenoma null http://purl.obolibrary.org/obo/MONDO_0004483 node NCBITaxon_51029 Heterodera glycines null http://purl.obolibrary.org/obo/NCBITaxon_51029 node NCBITaxon_446304 Rhabditis remanei null http://purl.obolibrary.org/obo/NCBITaxon_446304 node UBERON_0016540 occipital cortex null http://purl.obolibrary.org/obo/UBERON_0016540 node MONDO_0008199 late-onset Parkinson disease null http://purl.obolibrary.org/obo/MONDO_0008199 node Orphanet_91024 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 null http://www.orpha.net/ORDO/Orphanet_91024 node CHEBI_47775 HDL cholesterol null http://purl.obolibrary.org/obo/CHEBI_47775 node Orphanet_207025 Rare hereditary neurologic disease with peripheral neuropathy null http://www.orpha.net/ORDO/Orphanet_207025 node EFO_0008148 hemojuvelin measurement null http://www.ebi.ac.uk/efo/EFO_0008148 node EFO_0002451 HUVEC cell null http://www.ebi.ac.uk/efo/EFO_0002451 node MONDO_0008170 ovarian cancer null http://purl.obolibrary.org/obo/MONDO_0008170 node UBERON_0001892 rhombomere null http://purl.obolibrary.org/obo/UBERON_0001892 node MONDO_0025013 non-human primate disease null http://purl.obolibrary.org/obo/MONDO_0025013 node Orphanet_90318 Ehlers-Danlos syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_90318 node EFO_1000191 Colorectal Diffuse Large B-Cell Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000191 node MONDO_0004869 pelvic varices null http://purl.obolibrary.org/obo/MONDO_0004869 node HP_0000131 Uterine leiomyoma Leiomyoma is a benign neoplasm derived from smooth muscle cells. http://purl.obolibrary.org/obo/HP_0000131 node NCBITaxon_5057 Aspergillus clavatus null http://purl.obolibrary.org/obo/NCBITaxon_5057 node EFO_0009954 post-operative delirium null http://www.ebi.ac.uk/efo/EFO_0009954 node GO_2000428 regulation of neutrophil aggregation null http://purl.obolibrary.org/obo/GO_2000428 node NCBITaxon_185431 Trypanosoma brucei TREU927 null http://purl.obolibrary.org/obo/NCBITaxon_185431 node Orphanet_207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan null http://www.orpha.net/ORDO/Orphanet_207113 node NCBITaxon_11593 Crimean-Congo hemorrhagic fever virus null http://purl.obolibrary.org/obo/NCBITaxon_11593 node BTO_0002488 uterine leiomyosarcoma cell line null http://purl.obolibrary.org/obo/BTO_0002488 node CHEBI_17287 N-phosphocreatine null http://purl.obolibrary.org/obo/CHEBI_17287 node UBERON_0022353 posterior cingulate cortex null http://purl.obolibrary.org/obo/UBERON_0022353 node Orphanet_35121 Acid phosphatase deficiency null http://www.orpha.net/ORDO/Orphanet_35121 node Orphanet_294060 Multiple pterygium syndrome null http://www.orpha.net/ORDO/Orphanet_294060 node EFO_0004320 suicidal ideation null http://www.ebi.ac.uk/efo/EFO_0004320 node EFO_0010929 TNF-related activation-induced cytokine measurement null http://www.ebi.ac.uk/efo/EFO_0010929 node Orphanet_2828 Young adult-onset Parkinsonism null http://www.orpha.net/ORDO/Orphanet_2828 node EFO_0007109 iPS-27b null http://www.ebi.ac.uk/efo/EFO_0007109 node EFO_1001993 scleroderma null http://www.ebi.ac.uk/efo/EFO_1001993 node NCBITaxon_47664 Populus tremula x Populus tremuloides null http://purl.obolibrary.org/obo/NCBITaxon_47664 node HP_0003458 EMG: myopathic abnormalities null http://purl.obolibrary.org/obo/HP_0003458 node UBERON_0002043 dorsal raphe nucleus null http://purl.obolibrary.org/obo/UBERON_0002043 node EFO_0002048 BCBL-1 null http://www.ebi.ac.uk/efo/EFO_0002048 node EFO_1001356 Leiomyoma, Epithelioid null http://www.ebi.ac.uk/efo/EFO_1001356 node GO_1901905 response to tamsulosin null http://purl.obolibrary.org/obo/GO_1901905 node EFO_1001837 rectocele null http://www.ebi.ac.uk/efo/EFO_1001837 node EFO_0004859 abdominal aortic artery calcification null http://www.ebi.ac.uk/efo/EFO_0004859 node Orphanet_1980 Bilateral striopallidodentate calcinosis Encompasses a range of disorders with different etiology, see http://www.orpha.net/ORDO/Orphanet_1980 node CHEBI_53448 methyl cellulose null http://purl.obolibrary.org/obo/CHEBI_53448 node EFO_0009250 Prorubricyte Count null http://www.ebi.ac.uk/efo/EFO_0009250 node CHEBI_64569 lysophosphatidylethanolamine 20:4 null http://purl.obolibrary.org/obo/CHEBI_64569 node MPATH_579 ulcer null http://purl.obolibrary.org/obo/MPATH_579 node UBERON_0001103 diaphragm null http://purl.obolibrary.org/obo/UBERON_0001103 node Orphanet_363649 Mandibular hypoplasia-deafness-progeroid syndrome null http://www.orpha.net/ORDO/Orphanet_363649 node EFO_1001444 Tularemia null http://www.ebi.ac.uk/efo/EFO_1001444 node NCBITaxon_408170 human gut metagenome null http://purl.obolibrary.org/obo/NCBITaxon_408170 node HP_0012514 Lower limb pain null http://purl.obolibrary.org/obo/HP_0012514 node EFO_0005874 embryonic stage 14 Temporal ordering number - 350. http://www.ebi.ac.uk/efo/EFO_0005874 node EFO_0004947 Tis null http://www.ebi.ac.uk/efo/EFO_0004947 node EFO_0010494 guanosine diphosphate measurement null http://www.ebi.ac.uk/efo/EFO_0010494 node HP_0002814 Abnormality of the lower limb null http://purl.obolibrary.org/obo/HP_0002814 node Orphanet_206953 Muscular lipidosis null http://www.orpha.net/ORDO/Orphanet_206953 node FBbt_00000441 hindgut proper primordium null http://purl.obolibrary.org/obo/FBbt_00000441 node NCBITaxon_4120 Ipomoea batatas null http://purl.obolibrary.org/obo/NCBITaxon_4120 node CHEBI_4047 L-cysteinylglycine null http://purl.obolibrary.org/obo/CHEBI_4047 node MONDO_0007350 coloboma, ocular, autosomal dominant null http://purl.obolibrary.org/obo/MONDO_0007350 node MONDO_0018653 Polymerase proofreading-related adenomatous polyposis null http://purl.obolibrary.org/obo/MONDO_0018653 node EFO_0009151 cone-rod dystrophy and hearing loss null http://www.ebi.ac.uk/efo/EFO_0009151 node Republic_of_Ireland Republic of Ireland null http://dbpedia.org/resource/Republic_of_Ireland node NCBITaxon_96939 Vitis riparia null http://purl.obolibrary.org/obo/NCBITaxon_96939 node EFO_0006936 optic disc measurement null http://www.ebi.ac.uk/efo/EFO_0006936 node EFO_0000612 myocardial infarction null http://www.ebi.ac.uk/efo/EFO_0000612 node Orphanet_295213 Humero-ulnar synostosis, unilateral null http://www.orpha.net/ORDO/Orphanet_295213 node EFO_0010582 Morton Neuroma null http://www.ebi.ac.uk/efo/EFO_0010582 node NCBITaxon_5544 Trichoderma harzianum null http://purl.obolibrary.org/obo/NCBITaxon_5544 node Orphanet_240103 Progressive supranuclear palsy - corticobasal syndrome null http://www.orpha.net/ORDO/Orphanet_240103 node CL_0000218 myelinating Schwann cell null http://purl.obolibrary.org/obo/CL_0000218 node Orphanet_331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells null http://www.orpha.net/ORDO/Orphanet_331240 node HP_0012823 obsolete_clinical modifier null http://purl.obolibrary.org/obo/HP_0012823 node CHEBI_16605 allyl alcohol null http://purl.obolibrary.org/obo/CHEBI_16605 node EFO_0004005 inbred Mus musculus strain null http://www.ebi.ac.uk/efo/EFO_0004005 node EFO_0000700 integumental cell null http://www.ebi.ac.uk/efo/EFO_0000700 node Orphanet_1121 Radial deficiency - tibial hypoplasia null http://www.orpha.net/ORDO/Orphanet_1121 node EFO_0007764 delta-5 desaturase measurement null http://www.ebi.ac.uk/efo/EFO_0007764 node CHEBI_50498 vaccenate(1-) null http://purl.obolibrary.org/obo/CHEBI_50498 node Orphanet_100069 Semantic dementia null http://www.orpha.net/ORDO/Orphanet_100069 node Orphanet_240071 Classical progressive supranuclear palsy null http://www.orpha.net/ORDO/Orphanet_240071 node MONDO_0000949 conjunctival degeneration null http://purl.obolibrary.org/obo/MONDO_0000949 node UBERON_0003053 ventricular zone null http://purl.obolibrary.org/obo/UBERON_0003053 node UBERON_0002101 limb null http://purl.obolibrary.org/obo/UBERON_0002101 node Orphanet_67036 Autosomal dominant optic atrophy and cataract null http://www.orpha.net/ORDO/Orphanet_67036 node NCBITaxon_57975 Burkholderia thailandensis null http://purl.obolibrary.org/obo/NCBITaxon_57975 node Orphanet_96334 Paternal uniparental disomy of chromosome 14 null http://www.orpha.net/ORDO/Orphanet_96334 node EFO_0008823 Mseek null http://www.ebi.ac.uk/efo/EFO_0008823 node EFO_0000120 CS57790 null http://www.ebi.ac.uk/efo/EFO_0000120 node Orphanet_98768 Spinocerebellar ataxia type 13 null http://www.orpha.net/ORDO/Orphanet_98768 node EFO_0007852 thiopurine methyltransferase activity measurement null http://www.ebi.ac.uk/efo/EFO_0007852 node EFO_0006371 COLO 678 null http://www.ebi.ac.uk/efo/EFO_0006371 node MONDO_0030045 Liberfarb syndrome null http://purl.obolibrary.org/obo/MONDO_0030045 node Orphanet_90658 Charcot-Marie-Tooth disease type 1E null http://www.orpha.net/ORDO/Orphanet_90658 node Orphanet_254704 Genetic hyperferritinemia without iron overload null http://www.orpha.net/ORDO/Orphanet_254704 node EFO_0009973 CUT&RUN null http://www.ebi.ac.uk/efo/EFO_0009973 node NCBITaxon_44477 Apis mellifera mellifera null http://purl.obolibrary.org/obo/NCBITaxon_44477 node EFO_0009796 response to supplemental oxygen null http://www.ebi.ac.uk/efo/EFO_0009796 node EFO_0008225 MAP kinase-activated protein kinase 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008225 node MONDO_0000411 electroclinical syndrome null http://purl.obolibrary.org/obo/MONDO_0000411 node EFO_0008706 DArTSeq null http://www.ebi.ac.uk/efo/EFO_0008706 node MONDO_0019269 ichthyosis (disease) Epidermal keratinocytes undergo a unique form of terminal differentiation and programmed cell death known as cornification. Cornification leads to the formation of the outermost skin barrier, i.e. the cornified layer, as well as to the formation of hair and nails. http://purl.obolibrary.org/obo/MONDO_0019269 node EFO_1000599 Tracheal Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000599 node NCBITaxon_59207 Salmonella enterica subsp. indica null http://purl.obolibrary.org/obo/NCBITaxon_59207 node EFO_0002142 CORL23 null http://www.ebi.ac.uk/efo/EFO_0002142 node EFO_0001215 MDAMB453 null http://www.ebi.ac.uk/efo/EFO_0001215 node CL_0002116 B220-low CD38-positive unswitched memory B cell null http://purl.obolibrary.org/obo/CL_0002116 node EFO_1000844 brachial plexus neuropathy null http://www.ebi.ac.uk/efo/EFO_1000844 node EFO_0010109 CD56-positive NK-lymphocyte cell count null http://www.ebi.ac.uk/efo/EFO_0010109 node EFO_0008313 UMP-CMP kinase measurement null http://www.ebi.ac.uk/efo/EFO_0008313 node Orphanet_97232 Fingerprint body myopathy null http://www.orpha.net/ORDO/Orphanet_97232 node EFO_0002868 TT3E null http://www.ebi.ac.uk/efo/EFO_0002868 node Orphanet_98153 Uniparental disomy of maternal origin null http://www.orpha.net/ORDO/Orphanet_98153 node Orphanet_2636 Microcephalic osteodysplastic primordial dwarfism types I and III null http://www.orpha.net/ORDO/Orphanet_2636 node MONDO_0023069 enlarged vestibular aqueduct syndrome null http://purl.obolibrary.org/obo/MONDO_0023069 node EFO_0009485 eye injury null http://www.ebi.ac.uk/efo/EFO_0009485 node EFO_0007072 C0202 null http://www.ebi.ac.uk/efo/EFO_0007072 node BTO_0002179 184A1N4 cell null http://purl.obolibrary.org/obo/BTO_0002179 node CL_0002204 brush cell null http://purl.obolibrary.org/obo/CL_0002204 node Orphanet_289522 Microtriplication 11q24.1 null http://www.orpha.net/ORDO/Orphanet_289522 node EFO_1000932 extracutaneous mastocytoma null http://www.ebi.ac.uk/efo/EFO_1000932 node MONDO_0032920 juvenile arthritis due to defect in LACC1 null http://purl.obolibrary.org/obo/MONDO_0032920 node EFO_0003954 obsolete_Treacher-Collins syndrome null http://www.ebi.ac.uk/efo/EFO_0003954 node CL_0002017 Kit-negative, Ly-76 high orthochromatophilic erythroblasts Cell surface markers associated with mouse cells. http://purl.obolibrary.org/obo/CL_0002017 node EFO_0008401 susceptibility to shingles measurement null http://www.ebi.ac.uk/efo/EFO_0008401 node Orphanet_615 Familial atrial myxoma null http://www.orpha.net/ORDO/Orphanet_615 node Orphanet_209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency null http://www.orpha.net/ORDO/Orphanet_209902 node EFO_1000745 palmoplantar keratosis null http://www.ebi.ac.uk/efo/EFO_1000745 node CHEBI_133513 3-methylglutaconate anion null http://purl.obolibrary.org/obo/CHEBI_133513 node MONDO_0043479 adenoviridae infectious disease Editor note: check adenovirus vs adenoviridae http://purl.obolibrary.org/obo/MONDO_0043479 node HP_0001634 Mitral valve prolapse Mitral valve prolapse can be associated with mitral regurgitation. http://purl.obolibrary.org/obo/HP_0001634 node EFO_1000193 Colorectal Hamartoma null http://www.ebi.ac.uk/efo/EFO_1000193 node CHEBI_3663 cholesteryl palmitate null http://purl.obolibrary.org/obo/CHEBI_3663 node Orphanet_171433 Intermediate nemaline myopathy null http://www.orpha.net/ORDO/Orphanet_171433 node EFO_0003696 obsolete_mid cerebral vein null http://www.ebi.ac.uk/efo/EFO_0003696 node EFO_0002769 transcription profiling by tiling array null http://www.ebi.ac.uk/efo/EFO_0002769 node CL_2000002 decidual cell null http://purl.obolibrary.org/obo/CL_2000002 node Orphanet_182073 Syndromic neurometabolic disease with non-X-linked intellectual disability null http://www.orpha.net/ORDO/Orphanet_182073 node Orphanet_98054 Rare genetic cardiac disease null http://www.orpha.net/ORDO/Orphanet_98054 node Orphanet_2519 Microcephaly - seizures - intellectual disability - heart disease null http://www.orpha.net/ORDO/Orphanet_2519 node Orphanet_1703 Mosaic trisomy 14 null http://www.orpha.net/ORDO/Orphanet_1703 node EFO_0007160 autoimmune thrombocytopenic purpura null http://www.ebi.ac.uk/efo/EFO_0007160 node EFO_0002606 obsolete_gene null http://www.ebi.ac.uk/efo/EFO_0002606 node EFO_0008002 physical activity measurement null http://www.ebi.ac.uk/efo/EFO_0008002 node NCBITaxon_293653 Streptococcus pyogenes MGAS5005 null http://purl.obolibrary.org/obo/NCBITaxon_293653 node MONDO_0004245 ependymal tumor of brain null http://purl.obolibrary.org/obo/MONDO_0004245 node HP_0032072 Popliteal synovial cyst Popliteal synovial cysts, also known as Baker's cysts, are commonly found in association with intraarticular knee disorders, such as osteoarthritis and meniscus tears. Histologically, the cyst walls resemble synovial tissue with fibrosis, and chronic nonspecific inflammation may be present. Osteocartilaginous loose bodies may also be found within the cyst, even if they are not seen in the knee joint. Baker cysts can be a source of posterior knee pain that persists despite surgical treatment of the intraarticular lesion, and they are routinely discovered on magnetic resonance imaging scans of the symptomatic knee. Symptoms related to a popliteal cyst origin are infrequent and may be related to size. http://purl.obolibrary.org/obo/HP_0032072 node Orphanet_93308 Multiple epiphyseal dysplasia type 1 null http://www.orpha.net/ORDO/Orphanet_93308 node UBERON_0001443 chest null http://purl.obolibrary.org/obo/UBERON_0001443 node EFO_1000352 Malignant Germ Cell Tumor null http://www.ebi.ac.uk/efo/EFO_1000352 node MONDO_0003569 cranial nerve neuropathy null http://purl.obolibrary.org/obo/MONDO_0003569 node Orphanet_363710 Spinocerebellar ataxia type 37 null http://www.orpha.net/ORDO/Orphanet_363710 node HP_0006521 Pulmonary lymphangiectasia null http://purl.obolibrary.org/obo/HP_0006521 node Orphanet_3230 Deafness - oligodontia null http://www.orpha.net/ORDO/Orphanet_3230 node Orphanet_320406 Spastic paraplegia-optic atrophy-neuropathy syndrome null http://www.orpha.net/ORDO/Orphanet_320406 node CL_0000786 plasma cell Plasma cells develop in the spleen and migrate to the bone marrow. Plasma cells are also reportedly CD5-negative, CD10-negative, CD19-positive, CD20-negative, CD21-negative, CD22-negative, CD23-negative, CD24-negative, CD25-negative, CD27-positive, CD34-negative, CD38-positive, CD40-positive, CD43-positive, CD45-positive, CD48-positive, CD53-low, CD80-negative, CD81-positive, CD86-positive, CD95-positive, CD196-negative, CD229-positive, CD270-positive, CD352-positive, CD361-positive, and IgD-negative. Transcription factors: BLIMP1-positive, IRF4-positive, PAX5-negative, SpiB-negative, Ets1-negative, and XBP1-positive. http://purl.obolibrary.org/obo/CL_0000786 node EFO_1000281 Giant Cell Tumor of Soft Tissue null http://www.ebi.ac.uk/efo/EFO_1000281 node CL_0000805 immature single positive thymocyte Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and rearranging the T cell receptor alpha chain and expressing the CD8 coreceptor. This stage comes between the DN4 and DP stages. http://purl.obolibrary.org/obo/CL_0000805 node EFO_0003784 skin pigmentation null http://www.ebi.ac.uk/efo/EFO_0003784 node EFO_0001371 obsolete_vertebra null http://www.ebi.ac.uk/efo/EFO_0001371 node EFO_0002213 JRT3T35 null http://www.ebi.ac.uk/efo/EFO_0002213 node EFO_0001109 GM06994 null http://www.ebi.ac.uk/efo/EFO_0001109 node EFO_0000549 insulinoma null http://www.ebi.ac.uk/efo/EFO_0000549 node EFO_0000631 obsolete_oligoastroglioma null http://www.ebi.ac.uk/efo/EFO_0000631 node Orphanet_174590 Congenital hypogonadotropic hypogonadism null http://www.orpha.net/ORDO/Orphanet_174590 node EFO_0001038 obsolete_stomatal complex null http://www.ebi.ac.uk/efo/EFO_0001038 node MONDO_0016400 metal transport or utilization disorder with epilepsy null http://purl.obolibrary.org/obo/MONDO_0016400 node EFO_0000454 obsolete_embryonic esophageal ganglion null http://www.ebi.ac.uk/efo/EFO_0000454 node EFO_1001135 pulmonary plasma cell granuloma null http://www.ebi.ac.uk/efo/EFO_1001135 node Orphanet_262740 Partial duplication of the short arm of chromosome 6 null http://www.orpha.net/ORDO/Orphanet_262740 node EFO_0005565 janus kinase-3 deficiency null http://www.ebi.ac.uk/efo/EFO_0005565 node NCBITaxon_103349 Vitis rotundifolia null http://purl.obolibrary.org/obo/NCBITaxon_103349 node EFO_0003152 obsolete_Asian null http://www.ebi.ac.uk/efo/EFO_0003152 node EFO_0002301 NCI-H716 null http://www.ebi.ac.uk/efo/EFO_0002301 node MONDO_0054837 mental retardation, autosomal dominant 57 null http://purl.obolibrary.org/obo/MONDO_0054837 node MONDO_0044980 disease of signal transduction null http://purl.obolibrary.org/obo/MONDO_0044980 node Orphanet_93578 Atypical hemolytic-uremic syndrome with B factor anomaly null http://www.orpha.net/ORDO/Orphanet_93578 node MONDO_0016446 acquired cutis laxa null http://purl.obolibrary.org/obo/MONDO_0016446 node EFO_0004471 insulin sensitivity measurement null http://www.ebi.ac.uk/efo/EFO_0004471 node EFO_1001318 Escherichia coli Infections null http://www.ebi.ac.uk/efo/EFO_1001318 node GO_0009101 glycoprotein biosynthetic process null http://purl.obolibrary.org/obo/GO_0009101 node CHEBI_74640 N-acetyl-L-tryptophan null http://purl.obolibrary.org/obo/CHEBI_74640 node CHEBI_85751 triacylglycerol 56:5 null http://purl.obolibrary.org/obo/CHEBI_85751 node CHEBI_6121 ketamine null http://purl.obolibrary.org/obo/CHEBI_6121 node EFO_0006645 ME-1 null http://www.ebi.ac.uk/efo/EFO_0006645 node Orphanet_110 Bardet-Biedl syndrome null http://www.orpha.net/ORDO/Orphanet_110 node MONDO_0030914 intellectual disability, autosomal dominant 49 null http://purl.obolibrary.org/obo/MONDO_0030914 node HP_0007236 Recurrent subcortical infarcts null http://purl.obolibrary.org/obo/HP_0007236 node MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 null http://purl.obolibrary.org/obo/MONDO_0012933 node EFO_0005735 smooth muscle cell derived cell line null http://www.ebi.ac.uk/efo/EFO_0005735 node EFO_0000918 obsolete_epithalamus null http://www.ebi.ac.uk/efo/EFO_0000918 node OBI_0000512 single cell isolation null http://purl.obolibrary.org/obo/OBI_0000512 node Orphanet_52530 Pseudo-von Willebrand disease null http://www.orpha.net/ORDO/Orphanet_52530 node EFO_0006528 23132/87 null http://www.ebi.ac.uk/efo/EFO_0006528 node Orphanet_261250 16q24.3 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261250 node Orphanet_2297 Insulin-resistance syndrome type A null http://www.orpha.net/ORDO/Orphanet_2297 node HP_0002013 Vomiting null http://purl.obolibrary.org/obo/HP_0002013 node EFO_0010227 phosphatidylcholine ether measurement null http://www.ebi.ac.uk/efo/EFO_0010227 node MONDO_0060722 obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities null http://purl.obolibrary.org/obo/MONDO_0060722 node EFO_0004090 MQ887 null http://www.ebi.ac.uk/efo/EFO_0004090 node UBERON_0002509 mesenteric lymph node null http://purl.obolibrary.org/obo/UBERON_0002509 node CHEBI_68568 O-adipoylcarnitine null http://purl.obolibrary.org/obo/CHEBI_68568 node HP_0007722 Retinal pigment epithelial atrophy null http://purl.obolibrary.org/obo/HP_0007722 node MONDO_0024666 benign epithelial skin neoplasm null http://purl.obolibrary.org/obo/MONDO_0024666 node EFO_0005823 ML-DmBG3-c2 null http://www.ebi.ac.uk/efo/EFO_0005823 node PO_0007038 whole plant fruit ripening complete stage null http://purl.obolibrary.org/obo/PO_0007038 node Orphanet_1427 Otospondylomegaepiphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_1427 node MONDO_0024479 epithelial tumor of colon null http://purl.obolibrary.org/obo/MONDO_0024479 node EFO_0006616 KMS-27 null http://www.ebi.ac.uk/efo/EFO_0006616 node MONDO_0012657 Mungan syndrome null http://purl.obolibrary.org/obo/MONDO_0012657 node MONDO_0001269 scleral disease null http://purl.obolibrary.org/obo/MONDO_0001269 node EFO_0000139 CS57836 null http://www.ebi.ac.uk/efo/EFO_0000139 node UBERON_2000603 valvula cerebelli null http://purl.obolibrary.org/obo/UBERON_2000603 node EFO_0007941 LDH-related sciatica symptom severity measurement null http://www.ebi.ac.uk/efo/EFO_0007941 node EFO_0005020 collection latitude null http://www.ebi.ac.uk/efo/EFO_0005020 node Orphanet_90349 Autosomal recessive cutis laxa type 1 null http://www.orpha.net/ORDO/Orphanet_90349 node Orphanet_209867 Autosomal dominant rhegmatogenous retinal detachment null http://www.orpha.net/ORDO/Orphanet_209867 node EFO_0010128 immunoglobulin isotype switching measurement null http://www.ebi.ac.uk/efo/EFO_0010128 node EFO_0002880 YCC3 null http://www.ebi.ac.uk/efo/EFO_0002880 node EFO_0001776 replicate design null http://www.ebi.ac.uk/efo/EFO_0001776 node Orphanet_157713 Congenital or early infantile CACH syndrome null http://www.orpha.net/ORDO/Orphanet_157713 node EFO_0008570 Vitamin B3 deficiency null http://www.ebi.ac.uk/efo/EFO_0008570 node NCBITaxon_7460 Apis mellifera null http://purl.obolibrary.org/obo/NCBITaxon_7460 node FBbt_00005550 proventriculus primordium null http://purl.obolibrary.org/obo/FBbt_00005550 node Orphanet_93395 Ballard syndrome null http://www.orpha.net/ORDO/Orphanet_93395 node EFO_0008393 reaction time measurement null http://www.ebi.ac.uk/efo/EFO_0008393 node CHEBI_82969 gamma-Glu-Tyr null http://purl.obolibrary.org/obo/CHEBI_82969 node EFO_0006468 Panc 04.03 null http://www.ebi.ac.uk/efo/EFO_0006468 node HP_0100582 Nasal polyposis null http://purl.obolibrary.org/obo/HP_0100582 node Orphanet_2900 Leri pleonosteosis null http://www.orpha.net/ORDO/Orphanet_2900 node MONDO_0001578 hernia of ovary and fallopian tube Editor note: consider obsoleting (should be finding/phenotype) http://purl.obolibrary.org/obo/MONDO_0001578 node Orphanet_908 Fragile X syndrome null http://www.orpha.net/ORDO/Orphanet_908 node Orphanet_157801 Mesoaxial synostotic syndactyly with phalangeal reduction null http://www.orpha.net/ORDO/Orphanet_157801 node Orphanet_218 Darier disease null http://www.orpha.net/ORDO/Orphanet_218 node EFO_0009249 Precursor Plasma Cell Count null http://www.ebi.ac.uk/efo/EFO_0009249 node Orphanet_99960 Benign recurrent intrahepatic cholestasis type 1 null http://www.orpha.net/ORDO/Orphanet_99960 node Orphanet_329319 Hereditary thrombocytosis with transverse limb defect null http://www.orpha.net/ORDO/Orphanet_329319 node EFO_0002392 Y79 null http://www.ebi.ac.uk/efo/EFO_0002392 node Orphanet_79369 Isolated nail anomaly null http://www.orpha.net/ORDO/Orphanet_79369 node Orphanet_397685 Familial hyperprolactinemia null http://www.orpha.net/ORDO/Orphanet_397685 node Orphanet_2801 Juvenile Paget disease null http://www.orpha.net/ORDO/Orphanet_2801 node CHEBI_23057 cathasterone null http://purl.obolibrary.org/obo/CHEBI_23057 node MONDO_0016635 thrombotic disorder due to a platelet anomaly null http://purl.obolibrary.org/obo/MONDO_0016635 node EFO_1001387 Peliosis Hepatis null http://www.ebi.ac.uk/efo/EFO_1001387 node Orphanet_99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D null http://www.orpha.net/ORDO/Orphanet_99938 node Orphanet_306 Benign familial infantile epilepsy null http://www.orpha.net/ORDO/Orphanet_306 node EFO_0008514 neurofibromatosis Neurofibromatosis is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis. http://www.ebi.ac.uk/efo/EFO_0008514 node EFO_0009337 cell size selection null http://www.ebi.ac.uk/efo/EFO_0009337 node EFO_0003387 obsolete_ventral midline neuroblast null http://www.ebi.ac.uk/efo/EFO_0003387 node EFO_0009745 persistent oligoarticular juvenile idiopathic arthritis null http://www.ebi.ac.uk/efo/EFO_0009745 node Orphanet_199247 Corticosteroid-binding globulin deficiency null http://www.orpha.net/ORDO/Orphanet_199247 node Orphanet_30 Hereditary orotic aciduria null http://www.orpha.net/ORDO/Orphanet_30 node EFO_0009558 mononeuropathy null http://www.ebi.ac.uk/efo/EFO_0009558 node NCBITaxon_52904 Scophthalmus maximus null http://purl.obolibrary.org/obo/NCBITaxon_52904 node EFO_0002293 NCI-H446 null http://www.ebi.ac.uk/efo/EFO_0002293 node Orphanet_217012 Spinocerebellar ataxia type 31 null http://www.orpha.net/ORDO/Orphanet_217012 node EFO_1001475 schistosomiasis null http://www.ebi.ac.uk/efo/EFO_1001475 node CLO_0031253 GM14453 null http://purl.obolibrary.org/obo/CLO_0031253 node EFO_0008602 paraneoplastic pemphigus null http://www.ebi.ac.uk/efo/EFO_0008602 node EFO_1001288 Chlamydiaceae Infections null http://www.ebi.ac.uk/efo/EFO_1001288 node EFO_0007017 peanut allergy measurement null http://www.ebi.ac.uk/efo/EFO_0007017 node MONDO_0032922 Beck-Fahrner syndrome null http://purl.obolibrary.org/obo/MONDO_0032922 node Orphanet_183463 Genetic pigmentation anomaly of the skin null http://www.orpha.net/ORDO/Orphanet_183463 node HP_0032565 Vaginal mucosal ulceration A breach of the continuity of the mucous membrane of the vagina caused by sloughing out of inflamed necrotic tissue, usually associated with eschars (slough or piece of dead tissue) and with violaceous to erythematous borders. http://purl.obolibrary.org/obo/HP_0032565 node MONDO_0003044 extraosseous chondrosarcoma Editor note: TODO merge with MONDO:0012825 http://purl.obolibrary.org/obo/MONDO_0003044 node NCBITaxon_272556 Aggregatibacter actinomycetemcomitans HK1651 null http://purl.obolibrary.org/obo/NCBITaxon_272556 node EFO_0009646 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss null http://www.ebi.ac.uk/efo/EFO_0009646 node CHEBI_37989 Cy5 dye null http://purl.obolibrary.org/obo/CHEBI_37989 node Orphanet_3104 Robin sequence - oligodactyly null http://www.orpha.net/ORDO/Orphanet_3104 node Orphanet_2069 Gastrocutaneous syndrome null http://www.orpha.net/ORDO/Orphanet_2069 node EFO_0010795 sirtuin-2 measurement null http://www.ebi.ac.uk/efo/EFO_0010795 node CLO_0014389 GM17253 null http://purl.obolibrary.org/obo/CLO_0014389 node Orphanet_98605 Excretory apparatus of the lacrimal system anomaly null http://www.orpha.net/ORDO/Orphanet_98605 node EFO_0008004 resting metabolic rate measurement null http://www.ebi.ac.uk/efo/EFO_0008004 node EFO_1000553 Subependymoma null http://www.ebi.ac.uk/efo/EFO_1000553 node EFO_0000024 CS57587 null http://www.ebi.ac.uk/efo/EFO_0000024 node UBERON_0002360 meninx null http://purl.obolibrary.org/obo/UBERON_0002360 node EFO_1001784 diffuse cutaneous Leishmaniasis null http://www.ebi.ac.uk/efo/EFO_1001784 node OBI_0000981 agar stab specimen null http://purl.obolibrary.org/obo/OBI_0000981 node Orphanet_2157 Histidinemia null http://www.orpha.net/ORDO/Orphanet_2157 node MONDO_0015864 mixed germ cell tumor null http://purl.obolibrary.org/obo/MONDO_0015864 node EFO_1000142 Brain Stem Glioma null http://www.ebi.ac.uk/efo/EFO_1000142 node EFO_0003645 obsolete_cranial neural crest null http://www.ebi.ac.uk/efo/EFO_0003645 node EFO_0000726 transfection null http://www.ebi.ac.uk/efo/EFO_0000726 node Orphanet_231031 Erythema palmaris hereditarium null http://www.orpha.net/ORDO/Orphanet_231031 node EFO_0010720 invasive mechanical ventilation null http://www.ebi.ac.uk/efo/EFO_0010720 node EFO_1000436 Ovarian Tumor of the Thecoma/Fibroma Group null http://www.ebi.ac.uk/efo/EFO_1000436 node MONDO_0011583 cerebral amyloid angiopathy, APP-related null http://purl.obolibrary.org/obo/MONDO_0011583 node HP_0025328 Antepartum hemorrhage null http://purl.obolibrary.org/obo/HP_0025328 node HP_0001325 Hypoglycemic coma null http://purl.obolibrary.org/obo/HP_0001325 node EFO_0000112 CS57771 null http://www.ebi.ac.uk/efo/EFO_0000112 node CL_0002363 keratocyte null http://purl.obolibrary.org/obo/CL_0002363 node EFO_0010533 sorbitol measurement null http://www.ebi.ac.uk/efo/EFO_0010533 node Orphanet_59 Allan-Herndon-Dudley syndrome null http://www.orpha.net/ORDO/Orphanet_59 node Orphanet_60025 Pulmonary alveolar microlithiasis null http://www.orpha.net/ORDO/Orphanet_60025 node Orphanet_228169 Autosomal dominant striatal neurodegeneration null http://www.orpha.net/ORDO/Orphanet_228169 node EFO_0005223 acute stress reaction null http://www.ebi.ac.uk/efo/EFO_0005223 node EFO_0003733 obsolete_lung (Mus musculus) null http://www.ebi.ac.uk/efo/EFO_0003733 node EFO_0000814 obsolete_artery null http://www.ebi.ac.uk/efo/EFO_0000814 node EFO_1000043 ovarian serous cystadenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000043 node MONDO_0017031 primary interstitial lung disease in childhood and adulthood null http://purl.obolibrary.org/obo/MONDO_0017031 node MONDO_0016104 infectious disease with peripheral neuropathy null http://purl.obolibrary.org/obo/MONDO_0016104 node EFO_1000524 Signet Ring Cell Gastric Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000524 node EFO_0003546 obsolete_vertical myoseptum null http://www.ebi.ac.uk/efo/EFO_0003546 node EFO_0010140 opioid overdose severity measurement null http://www.ebi.ac.uk/efo/EFO_0010140 node CL_0002451 mammary stem cell null http://purl.obolibrary.org/obo/CL_0002451 node EFO_0010621 stromelysin‐2 measurement null http://www.ebi.ac.uk/efo/EFO_0010621 node CLO_0016686 GM17785 null http://purl.obolibrary.org/obo/CLO_0016686 node CHEBI_73074 O-stearoylcarnitine null http://purl.obolibrary.org/obo/CHEBI_73074 node GO_0007417 central nervous system development null http://purl.obolibrary.org/obo/GO_0007417 node EFO_0005106 body composition measurement null http://www.ebi.ac.uk/efo/EFO_0005106 node CLO_0016523 GM17839 null http://purl.obolibrary.org/obo/CLO_0016523 node Orphanet_85332 X-linked intellectual disability-retinitis pigmentosa syndrome null http://www.orpha.net/ORDO/Orphanet_85332 node MONDO_0001551 ulceration of vulva null http://purl.obolibrary.org/obo/MONDO_0001551 node MONDO_0000624 benign female reproductive system neoplasm null http://purl.obolibrary.org/obo/MONDO_0000624 node MONDO_0021155 X-linked cone-rod dystrophy null http://purl.obolibrary.org/obo/MONDO_0021155 node EFO_0008919 Seq-Well null http://www.ebi.ac.uk/efo/EFO_0008919 node EFO_0005514 HER2 status null http://www.ebi.ac.uk/efo/EFO_0005514 node EFO_0000216 acinar cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0000216 node EFO_0010842 HG02588 null http://www.ebi.ac.uk/efo/EFO_0010842 node CHEBI_100241 ciprofloxacin null http://purl.obolibrary.org/obo/CHEBI_100241 node Orphanet_1118 Fibular aplasia - ectrodactyly null http://www.orpha.net/ORDO/Orphanet_1118 node Orphanet_393 46,XX testicular disorder of sex development null http://www.orpha.net/ORDO/Orphanet_393 node NCBITaxon_57678 Leptospira interrogans serovar Lai null http://purl.obolibrary.org/obo/NCBITaxon_57678 node Orphanet_352582 Familial infantile myoclonic epilepsy null http://www.orpha.net/ORDO/Orphanet_352582 node MONDO_0000592 specific developmental disorder null http://purl.obolibrary.org/obo/MONDO_0000592 node MONDO_0021243 parotid gland neoplasm null http://purl.obolibrary.org/obo/MONDO_0021243 node EFO_0009924 Drugs used in diabetes use measurement null http://www.ebi.ac.uk/efo/EFO_0009924 node EFO_0000304 breast adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0000304 node EO_0007231 study type (plant) This term is specific to plant experiment imported from plant environment ontology. The source preferred label is 'study type'. http://purl.obolibrary.org/obo/EO_0007231 node HANCESTRO_0003 country null http://purl.obolibrary.org/obo/HANCESTRO_0003 node EFO_0009747 GM25256 null http://www.ebi.ac.uk/efo/EFO_0009747 node UBERON_0000965 lens of camera-type eye The lens is avascular and nourished by diffusion from the aqueous and vitreous http://purl.obolibrary.org/obo/UBERON_0000965 node HP_0001737 Pancreatic cysts Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium. http://purl.obolibrary.org/obo/HP_0001737 node EFO_0005415 serum alpha-1-antitrypsin measurement null http://www.ebi.ac.uk/efo/EFO_0005415 node EFO_0007159 atrophic rhinitis null http://www.ebi.ac.uk/efo/EFO_0007159 node GO_0015884 folic acid transport null http://purl.obolibrary.org/obo/GO_0015884 node NCBITaxon_5661 Leishmania donovani null http://purl.obolibrary.org/obo/NCBITaxon_5661 node EFO_0007567 YFP protein fusion library null http://www.ebi.ac.uk/efo/EFO_0007567 node Orphanet_276 T-B+ severe combined immunodeficiency due to gamma chain deficiency null http://www.orpha.net/ORDO/Orphanet_276 node Orphanet_35705 Neurometabolic disorder due to serine deficiency null http://www.orpha.net/ORDO/Orphanet_35705 node CL_0002048 late pro-B cell Late pro-B cells are also reportedly CD10-positive, CD20-negative, CD21-negative, and TdT-positive. Transcription factors: PU.1-positive, Ikaros-positive, E2A-positive, and PAX5-positive. http://purl.obolibrary.org/obo/CL_0002048 node EFO_1000958 halo nevus null http://www.ebi.ac.uk/efo/EFO_1000958 node Orphanet_97346 Familial dementia, Danish type null http://www.orpha.net/ORDO/Orphanet_97346 node EFO_0009835 increased respiratory secretion null http://www.ebi.ac.uk/efo/EFO_0009835 node EFO_0002819 Calu3 null http://www.ebi.ac.uk/efo/EFO_0002819 node UBERON_2001089 myoseptum null http://purl.obolibrary.org/obo/UBERON_2001089 node NCBITaxon_2371 Xylella fastidiosa null http://purl.obolibrary.org/obo/NCBITaxon_2371 node PO_0000043 crown root null http://purl.obolibrary.org/obo/PO_0000043 node Orphanet_98408 Constitutional megaloblastic anemia due to folate metabolism disorder null http://www.orpha.net/ORDO/Orphanet_98408 node EFO_0007468 Rhabditida infectious disease null http://www.ebi.ac.uk/efo/EFO_0007468 node MONDO_0003321 hereditary Wilms' tumor null http://purl.obolibrary.org/obo/MONDO_0003321 node Orphanet_3339 Toriello-Lacassie-Droste syndrome null http://www.orpha.net/ORDO/Orphanet_3339 node CHEBI_34908 pentachloronitrobenzene null http://purl.obolibrary.org/obo/CHEBI_34908 node MONDO_0026733 intellectual developmental disorder, x-linked, syndromic, Hackmann-Di Donato type null http://purl.obolibrary.org/obo/MONDO_0026733 node MONDO_0003649 esophageal neuroendocrine tumor null http://purl.obolibrary.org/obo/MONDO_0003649 node EFO_1001096 periapical granuloma null http://www.ebi.ac.uk/efo/EFO_1001096 node EFO_0002907 population growth assay null http://www.ebi.ac.uk/efo/EFO_0002907 node EFO_0007274 Flaviviridae infectious disease null http://www.ebi.ac.uk/efo/EFO_0007274 node NCBITaxon_8316 Notophthalmus viridescens null http://purl.obolibrary.org/obo/NCBITaxon_8316 node HP_0005775 Multiple skeletal anomalies null http://purl.obolibrary.org/obo/HP_0005775 node Orphanet_1083 Microlissencephaly null http://www.orpha.net/ORDO/Orphanet_1083 node Orphanet_99413 Turner syndrome due to structural X chromosome anomalies null http://www.orpha.net/ORDO/Orphanet_99413 node CHEBI_85876 triacylglycerol 54:6 null http://purl.obolibrary.org/obo/CHEBI_85876 node MONDO_0044785 desmoplastic melanoma null http://purl.obolibrary.org/obo/MONDO_0044785 node Orphanet_2204 Dysplastic cortical hyperostosis null http://www.orpha.net/ORDO/Orphanet_2204 node EFO_0004188 hybrid selection of targets null http://www.ebi.ac.uk/efo/EFO_0004188 node Orphanet_268363 Open iniencephaly null http://www.orpha.net/ORDO/Orphanet_268363 node EFO_0002394 ovarian cancer cell lines null http://www.ebi.ac.uk/efo/EFO_0002394 node EFO_0000298 obsolete_bone null http://www.ebi.ac.uk/efo/EFO_0000298 node EFO_0002514 obsolete_corneal stroma null http://www.ebi.ac.uk/efo/EFO_0002514 node EFO_0000883 obsolete_hindlimb null http://www.ebi.ac.uk/efo/EFO_0000883 node EFO_0009055 RIDDLE syndrome null http://www.ebi.ac.uk/efo/EFO_0009055 node CL_0000185 myoepithelial cell null http://purl.obolibrary.org/obo/CL_0000185 node EFO_0008084 chitotriosidase-1 measurement null http://www.ebi.ac.uk/efo/EFO_0008084 node Orphanet_65285 Lhermitte-Duclos disease null http://www.orpha.net/ORDO/Orphanet_65285 node MONDO_0005374 bone marrow neoplasm null http://purl.obolibrary.org/obo/MONDO_0005374 node MONDO_0043364 eosinophil peroxidase deficiency null http://purl.obolibrary.org/obo/MONDO_0043364 node EFO_1001067 nutritional deficiency disease null http://www.ebi.ac.uk/efo/EFO_1001067 node EFO_0004276 Stevens-Johnson syndrome null http://www.ebi.ac.uk/efo/EFO_0004276 node CL_0000887 lymph node subcapsular sinus macrophage null http://purl.obolibrary.org/obo/CL_0000887 node UBERON_0009091 vasa recta ascending limb null http://purl.obolibrary.org/obo/UBERON_0009091 node EFO_0004089 SS149 null http://www.ebi.ac.uk/efo/EFO_0004089 node MONDO_0002129 bone cancer null http://purl.obolibrary.org/obo/MONDO_0002129 node UBERON_2001313 ventral anterior lateral line ganglion null http://purl.obolibrary.org/obo/UBERON_2001313 node EFO_0000405 digestive system disease null http://www.ebi.ac.uk/efo/EFO_0000405 node EFO_0000971 obsolete_hermaphrodite gonad null http://www.ebi.ac.uk/efo/EFO_0000971 node UBERON_2001299 vagal placode 3 null http://purl.obolibrary.org/obo/UBERON_2001299 node CLO_0031601 GM14536 null http://purl.obolibrary.org/obo/CLO_0031601 node EFO_0002295 NCI-H522 null http://www.ebi.ac.uk/efo/EFO_0002295 node EFO_0001368 obsolete_intercostal muscle null http://www.ebi.ac.uk/efo/EFO_0001368 node EFO_0009143 ryr1-related disorders null http://www.ebi.ac.uk/efo/EFO_0009143 node Orphanet_166024 Multiple epiphyseal dysplasia, Al-Gazali type null http://www.orpha.net/ORDO/Orphanet_166024 node EFO_0000192 obsolete_MELAS syndrome null http://www.ebi.ac.uk/efo/EFO_0000192 node Orphanet_84081 Senior-Boichis syndrome null http://www.orpha.net/ORDO/Orphanet_84081 node EFO_0003336 obsolete_mesectoderm anlage null http://www.ebi.ac.uk/efo/EFO_0003336 node EFO_0006890 fibrosis null http://www.ebi.ac.uk/efo/EFO_0006890 node CL_0000975 short lived plasma cell null http://purl.obolibrary.org/obo/CL_0000975 node HP_0025258 Stiff neck null http://purl.obolibrary.org/obo/HP_0025258 node NCBITaxon_70792 Penicillium corylophilum null http://purl.obolibrary.org/obo/NCBITaxon_70792 node MONDO_0018750 class I glucose-6-phosphate dehydrogenase deficiency null http://purl.obolibrary.org/obo/MONDO_0018750 node EFO_0003149 advanced heart failure null http://www.ebi.ac.uk/efo/EFO_0003149 node Orphanet_1480 Ventricular septal defect null http://www.orpha.net/ORDO/Orphanet_1480 node Orphanet_177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 null http://www.orpha.net/ORDO/Orphanet_177904 node EFO_0003810 interleukin-22 (Homo sapiens) null http://www.ebi.ac.uk/efo/EFO_0003810 node MONDO_0004041 urothelial papilloma null http://purl.obolibrary.org/obo/MONDO_0004041 node Orphanet_1293 Brachyolmia null http://www.orpha.net/ORDO/Orphanet_1293 node Orphanet_1130 Arachnodactyly - intellectual disability - dysmorphism null http://www.orpha.net/ORDO/Orphanet_1130 node EFO_0007933 radius bone mineral density null http://www.ebi.ac.uk/efo/EFO_0007933 node Orphanet_96184 Maternal uniparental disomy of chromosome 14 null http://www.orpha.net/ORDO/Orphanet_96184 node EFO_0007756 Staphylococcus aureus carrier status null http://www.ebi.ac.uk/efo/EFO_0007756 node EFO_0006829 GFR change measurement null http://www.ebi.ac.uk/efo/EFO_0006829 node CL_0000582 neutrophilic metamyelocyte These cells are also CD35-negative, CD49d-positive, and fMLP receptor-negative. They are found in the Band 2 fraction. http://purl.obolibrary.org/obo/CL_0000582 node Orphanet_1458 CODAS syndrome null http://www.orpha.net/ORDO/Orphanet_1458 node MONDO_0015006 generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss null http://purl.obolibrary.org/obo/MONDO_0015006 node Orphanet_93320 Ulnar hemimelia null http://www.orpha.net/ORDO/Orphanet_93320 node Orphanet_404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome null http://www.orpha.net/ORDO/Orphanet_404451 node EFO_0007569 compound library null http://www.ebi.ac.uk/efo/EFO_0007569 node EFO_0003237 chitin octamer null http://www.ebi.ac.uk/efo/EFO_0003237 node MONDO_0045022 disorder of organic acid metabolism null http://purl.obolibrary.org/obo/MONDO_0045022 node Orphanet_263746 Y chromosome number anomaly null http://www.orpha.net/ORDO/Orphanet_263746 node MONDO_0007806 hypotrichosis 4 Editor note: consider merging into MUHH http://purl.obolibrary.org/obo/MONDO_0007806 node MONDO_0016708 embryonal tumor of neuroepithelial tissue null http://purl.obolibrary.org/obo/MONDO_0016708 node Orphanet_98888 X-linked complex spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_98888 node Orphanet_309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis null http://www.orpha.net/ORDO/Orphanet_309463 node CL_0002540 mesenchymal stem cell of the bone marrow null http://purl.obolibrary.org/obo/CL_0002540 node CHEBI_39177 (E)-clothianidin null http://purl.obolibrary.org/obo/CHEBI_39177 node MONDO_0000315 commensal bacterial infectious disease Editor note: TODO http://purl.obolibrary.org/obo/MONDO_0000315 node EFO_0005937 longitudinal BMI measurement null http://www.ebi.ac.uk/efo/EFO_0005937 node EFO_0008783 IVT-SAPAS null http://www.ebi.ac.uk/efo/EFO_0008783 node EFO_0007657 cerebrospinal fluid clusterin measurement null http://www.ebi.ac.uk/efo/EFO_0007657 node EFO_0005191 waist height ratio null http://www.ebi.ac.uk/efo/EFO_0005191 node Orphanet_168593 Sudden infant death - dysgenesis of the testes null http://www.orpha.net/ORDO/Orphanet_168593 node CHEBI_9352 sulindac null http://purl.obolibrary.org/obo/CHEBI_9352 node Orphanet_98976 Congenital glaucoma Editor note: check placement of subclasses http://www.orpha.net/ORDO/Orphanet_98976 node NCBITaxon_155900 uncultured organism null http://purl.obolibrary.org/obo/NCBITaxon_155900 node MONDO_0001330 presbyopia null http://purl.obolibrary.org/obo/MONDO_0001330 node Orphanet_2744 Horizontal gaze palsy with progressive scoliosis null http://www.orpha.net/ORDO/Orphanet_2744 node EFO_0008871 ProP-PD null http://www.ebi.ac.uk/efo/EFO_0008871 node Orphanet_369894 Early infantile epileptic encephalopathy without suppression burst null http://www.orpha.net/ORDO/Orphanet_369894 node EFO_0008684 Chia-PET null http://www.ebi.ac.uk/efo/EFO_0008684 node CHEBI_13705 acetoacetate null http://purl.obolibrary.org/obo/CHEBI_13705 node GO_0050708 regulation of protein secretion null http://purl.obolibrary.org/obo/GO_0050708 node NCBITaxon_54736 Salmonella bongori null http://purl.obolibrary.org/obo/NCBITaxon_54736 node EFO_0007827 nighttime rest measurement null http://www.ebi.ac.uk/efo/EFO_0007827 node EFO_0002877 YCC10 null http://www.ebi.ac.uk/efo/EFO_0002877 node EFO_0006501 carotid plaque build null http://www.ebi.ac.uk/efo/EFO_0006501 node NCBITaxon_364106 Escherichia coli UTI89 null http://purl.obolibrary.org/obo/NCBITaxon_364106 node GO_0006629 lipid metabolic process null http://purl.obolibrary.org/obo/GO_0006629 node Orphanet_2832 Short tarsus - absence of lower eyelashes null http://www.orpha.net/ORDO/Orphanet_2832 node EFO_0006324 antidepressant-induced hearing impairment null http://www.ebi.ac.uk/efo/EFO_0006324 node CL_0002400 Fraction B/C precursor B cell null http://purl.obolibrary.org/obo/CL_0002400 node CHEBI_47612 bezafibrate null http://purl.obolibrary.org/obo/CHEBI_47612 node Orphanet_98570 Congenital ectropion null http://www.orpha.net/ORDO/Orphanet_98570 node MONDO_0000509 non-syndromic intellectual disability null http://purl.obolibrary.org/obo/MONDO_0000509 node China China null http://dbpedia.org/resource/China node Orphanet_2574 Moynahan syndrome null http://www.orpha.net/ORDO/Orphanet_2574 node EFO_1001360 Leukoplakia, Hairy null http://www.ebi.ac.uk/efo/EFO_1001360 node CHEBI_24462 gulonic acid null http://purl.obolibrary.org/obo/CHEBI_24462 node MONDO_0002884 nail disease null http://purl.obolibrary.org/obo/MONDO_0002884 node EFO_1001841 sebaceous of Jadassohn nevus null http://www.ebi.ac.uk/efo/EFO_1001841 node EFO_0004863 recombination rate null http://www.ebi.ac.uk/efo/EFO_0004863 node EFO_0003892 pulmonary function measurement null http://www.ebi.ac.uk/efo/EFO_0003892 node EFO_0000973 obsolete_animal ovary null http://www.ebi.ac.uk/efo/EFO_0000973 node CHEBI_53452 N-(1-naphthyl)ethylenediamine dihydrochloride null http://purl.obolibrary.org/obo/CHEBI_53452 node HP_0003119 Abnormal circulating lipid concentration According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. http://purl.obolibrary.org/obo/HP_0003119 node MONDO_0003036 mucoepidermoid carcinoma Editor notes: classified as a salivary gland carcinoma in DO but not correct as there are other subtypes http://purl.obolibrary.org/obo/MONDO_0003036 node EFO_0001965 obsolete_mandible null http://www.ebi.ac.uk/efo/EFO_0001965 node EFO_0006412 G96 null http://www.ebi.ac.uk/efo/EFO_0006412 node Orphanet_169142 Recurrent infection due to specific granule deficiency null http://www.orpha.net/ORDO/Orphanet_169142 node EFO_0002098 647V null http://www.ebi.ac.uk/efo/EFO_0002098 node MONDO_0000138 metaphyseal chondrodysplasia (disease) null http://purl.obolibrary.org/obo/MONDO_0000138 node Orphanet_90322 Cockayne syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_90322 node Orphanet_79430 Hermansky-Pudlak syndrome null http://www.orpha.net/ORDO/Orphanet_79430 node Orphanet_2662 Keipert syndrome null http://www.orpha.net/ORDO/Orphanet_2662 node Orphanet_101046 Autosomal dominant epilepsy with auditory features Editor note: split out generic type http://www.orpha.net/ORDO/Orphanet_101046 node EFO_0001164 obsolete_GM12892 null http://www.ebi.ac.uk/efo/EFO_0001164 node Orphanet_774 Hereditary hemorrhagic telangiectasia null http://www.orpha.net/ORDO/Orphanet_774 node EFO_0004951 alive at endpoint null http://www.ebi.ac.uk/efo/EFO_0004951 node EFO_0000580 medullary breast carcinoma null http://www.ebi.ac.uk/efo/EFO_0000580 node MONDO_0004686 lattice corneal dystrophy (disease) Editor note: TODO this class sourced from DO, may contain mistakes; may be confused with Lattice corneal dystrophy type II http://purl.obolibrary.org/obo/MONDO_0004686 node UBERON_0002352 atrioventricular node null http://purl.obolibrary.org/obo/UBERON_0002352 node Orphanet_319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency null http://www.orpha.net/ORDO/Orphanet_319543 node MONDO_0021005 faciodigitogenital syndrome null http://purl.obolibrary.org/obo/MONDO_0021005 node Orphanet_3222 Phosphoribosylpyrophosphate synthetase superactivity null http://www.orpha.net/ORDO/Orphanet_3222 node Orphanet_268744 Spina bifida cystica null http://www.orpha.net/ORDO/Orphanet_268744 node HP_0001660 Truncus arteriosus null http://purl.obolibrary.org/obo/HP_0001660 node Orphanet_3035 Growth delay - hydrocephaly - lung hypoplasia null http://www.orpha.net/ORDO/Orphanet_3035 node HP_0004532 Sacral hypertrichosis null http://purl.obolibrary.org/obo/HP_0004532 node EFO_0002205 Hep3B null http://www.ebi.ac.uk/efo/EFO_0002205 node HP_0010841 Multifocal epileptiform discharges null http://purl.obolibrary.org/obo/HP_0010841 node NCBITaxon_192955 Salmonella enterica subsp. enterica serovar Kentucky null http://purl.obolibrary.org/obo/NCBITaxon_192955 node PO_0000045 embryo root null http://purl.obolibrary.org/obo/PO_0000045 node Orphanet_397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome null http://www.orpha.net/ORDO/Orphanet_397927 node Orphanet_64739 Ovarian hyperstimulation syndrome null http://www.orpha.net/ORDO/Orphanet_64739 node HP_0000954 Single transverse palmar crease The presence of a single palmar crease (instead of the two palmar creases that are typically present). http://purl.obolibrary.org/obo/HP_0000954 node EFO_0005761 lupus nephritis null http://www.ebi.ac.uk/efo/EFO_0005761 node MONDO_0015574 chronic cutaneous lupus erythematosus null http://purl.obolibrary.org/obo/MONDO_0015574 node NCBITaxon_3724 Matthiola incana null http://purl.obolibrary.org/obo/NCBITaxon_3724 node Orphanet_93956 Truncal dystonia null http://www.orpha.net/ORDO/Orphanet_93956 node MONDO_0015411 facial cleft null http://purl.obolibrary.org/obo/MONDO_0015411 node HP_0002033 Poor suck null http://purl.obolibrary.org/obo/HP_0002033 node EFO_0008305 trypsin-2 measurement null http://www.ebi.ac.uk/efo/EFO_0008305 node EFO_0009220 Hemoglobin G Coushatta to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009220 node CHEBI_3638 chloroquine null http://purl.obolibrary.org/obo/CHEBI_3638 node HP_0002514 Cerebral calcification This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. http://purl.obolibrary.org/obo/HP_0002514 node EFO_1000649 estrogen-receptor positive breast cancer null http://www.ebi.ac.uk/efo/EFO_1000649 node EFO_0008118 endoglin measurement null http://www.ebi.ac.uk/efo/EFO_0008118 node UBERON_0002661 superior frontal gyrus null http://purl.obolibrary.org/obo/UBERON_0002661 node EFO_0010746 Inhibin B measurement null http://www.ebi.ac.uk/efo/EFO_0010746 node Orphanet_289465 Isolated adermatoglyphia null http://www.orpha.net/ORDO/Orphanet_289465 node BTO_0000426 erythroleukemia cell null http://purl.obolibrary.org/obo/BTO_0000426 node HP_0030084 Clinodactyly null http://purl.obolibrary.org/obo/HP_0030084 node EFO_0003033 bacteriemia null http://www.ebi.ac.uk/efo/EFO_0003033 node EFO_0002106 A673 null http://www.ebi.ac.uk/efo/EFO_0002106 node NCBITaxon_5689 Leishmania tarentolae null http://purl.obolibrary.org/obo/NCBITaxon_5689 node Orphanet_230 Dopamine beta-hydroxylase deficiency null http://www.orpha.net/ORDO/Orphanet_230 node NCBITaxon_4751 Fungi null http://purl.obolibrary.org/obo/NCBITaxon_4751 node Orphanet_1928 Congenital lobar emphysema null http://www.orpha.net/ORDO/Orphanet_1928 node HP_0002121 Generalized non-motor (absence) seizure in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. http://purl.obolibrary.org/obo/HP_0002121 node EFO_1000256 Fibrolamellar Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000256 node EFO_1000737 multiple symmetric lipomatosis null http://www.ebi.ac.uk/efo/EFO_1000737 node EFO_0003759 pervasive developmental disorder - not otherwise specified null http://www.ebi.ac.uk/efo/EFO_0003759 node EFO_0008206 left ventricular systolic function measurement null http://www.ebi.ac.uk/efo/EFO_0008206 node EFO_0010353 diacylglycerol 34:2 measurement null http://www.ebi.ac.uk/efo/EFO_0010353 node CHEBI_20067 3-hydroxybutyric acid null http://purl.obolibrary.org/obo/CHEBI_20067 node UBERON_0002544 digit null http://purl.obolibrary.org/obo/UBERON_0002544 node EFO_0010834 tumor necrosis factor measurement null http://www.ebi.ac.uk/efo/EFO_0010834 node Orphanet_99044 Double outlet right ventricle with subaortic ventricular septal defect null http://www.orpha.net/ORDO/Orphanet_99044 node Orphanet_289553 Dysmorphism - conductive hearing loss - heart defect null http://www.orpha.net/ORDO/Orphanet_289553 node EFO_0005319 contact dermatitis null http://www.ebi.ac.uk/efo/EFO_0005319 node MONDO_0019362 epidemic louse-borne typhus null http://purl.obolibrary.org/obo/MONDO_0019362 node Orphanet_1535 Craniosynostosis - dysmorphism - brachydactyly null http://www.orpha.net/ORDO/Orphanet_1535 node EFO_1000344 Major Salivary Gland Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000344 node EFO_1000139 Borderline Ovarian Serous Tumor null http://www.ebi.ac.uk/efo/EFO_1000139 node Orphanet_1149 Arthrogryposis-like syndrome null http://www.orpha.net/ORDO/Orphanet_1149 node EFO_0006693 NCI-H510A null http://www.ebi.ac.uk/efo/EFO_0006693 node NCBITaxon_482957 Burkholderia lata null http://purl.obolibrary.org/obo/NCBITaxon_482957 node UBERON_0001705 nail The nails of humans and the claws are moth are highly similar. Both species have a proximal nail fold, cuticle, nail matrix, nail bed, nail plate, and hyponychium. Distinguishing features are the shape of the nail and the presence of an extended hyponychium in the mouse [PMC3579226] http://purl.obolibrary.org/obo/UBERON_0001705 node EFO_0004130 obsolete_Diamond-Blackfan anemia null http://www.ebi.ac.uk/efo/EFO_0004130 node Orphanet_2289 Neuronal intranuclear inclusion disease null http://www.orpha.net/ORDO/Orphanet_2289 node Orphanet_56304 Atelosteogenesis type II null http://www.orpha.net/ORDO/Orphanet_56304 node EFO_0000194 obsolete_malignant peripheral nerve sheath tumor class null http://www.ebi.ac.uk/efo/EFO_0000194 node EFO_0000109 obsolete_CNS brain striatum MMHCC Use corpus striatum instead (EFO_0000381) http://www.ebi.ac.uk/efo/EFO_0000109 node EFO_0006892 cutaneous precancerous condition null http://www.ebi.ac.uk/efo/EFO_0006892 node UBERON_2005073 atrioventricular ring null http://purl.obolibrary.org/obo/UBERON_2005073 node PO_0007047 3 inflorescence detectable stage null http://purl.obolibrary.org/obo/PO_0007047 node EFO_0010938 large-insert clone DNA microarray null http://www.ebi.ac.uk/efo/EFO_0010938 node CL_0000836 promyelocyte null http://purl.obolibrary.org/obo/CL_0000836 node EFO_0005628 proctitis null http://www.ebi.ac.uk/efo/EFO_0005628 node Orphanet_308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature null http://www.orpha.net/ORDO/Orphanet_308041 node EFO_0010324 posterior cingulate cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010324 node MONDO_0100016 early-onset generalized dystonia null http://purl.obolibrary.org/obo/MONDO_0100016 node CHEBI_36005 docosahexaenoic acid null http://purl.obolibrary.org/obo/CHEBI_36005 node MONDO_0017028 secondary interstitial lung disease specific to adulthood associated with a systemic disease null http://purl.obolibrary.org/obo/MONDO_0017028 node MONDO_0000919 ampulla of vater cancer null http://purl.obolibrary.org/obo/MONDO_0000919 node MONDO_0013566 Fanconi anemia complementation group L null http://purl.obolibrary.org/obo/MONDO_0013566 node CL_0000222 mesodermal cell null http://purl.obolibrary.org/obo/CL_0000222 node CHEBI_21363 methionine sulfone null http://purl.obolibrary.org/obo/CHEBI_21363 node Orphanet_85329 X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior null http://www.orpha.net/ORDO/Orphanet_85329 node CL_0000924 CD4-negative, CD8-negative type I NK T cell null http://purl.obolibrary.org/obo/CL_0000924 node EFO_0002685 obsolete_rosette stage null http://www.ebi.ac.uk/efo/EFO_0002685 node MONDO_0030015 bone marrow failure syndrome 6 null http://purl.obolibrary.org/obo/MONDO_0030015 node EFO_0005716 retinal cancer null http://www.ebi.ac.uk/efo/EFO_0005716 node EFO_0008562 postpartum null http://www.ebi.ac.uk/efo/EFO_0008562 node EFO_1002026 rubella null http://www.ebi.ac.uk/efo/EFO_1002026 node UBERON_0000916 abdomen null http://purl.obolibrary.org/obo/UBERON_0000916 node Orphanet_262633 Partial duplication of chromosome 7 null http://www.orpha.net/ORDO/Orphanet_262633 node CL_0002021 GlyA-positive erythrocyte Marker is associated with human cell types. http://purl.obolibrary.org/obo/CL_0002021 node GO_0048103 somatic stem cell division null http://purl.obolibrary.org/obo/GO_0048103 node EFO_0008785 LIANTI null http://www.ebi.ac.uk/efo/EFO_0008785 node UBERON_0004203 cortical collecting duct null http://purl.obolibrary.org/obo/UBERON_0004203 node Orphanet_86819 Atrichia with papular lesions null http://www.orpha.net/ORDO/Orphanet_86819 node EFO_0002773 assay by instrument null http://www.ebi.ac.uk/efo/EFO_0002773 node GO_1901564 organonitrogen compound metabolic process null http://purl.obolibrary.org/obo/GO_1901564 node EFO_0007518 tracheitis null http://www.ebi.ac.uk/efo/EFO_0007518 node Orphanet_293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria null http://www.orpha.net/ORDO/Orphanet_293284 node EFO_0009390 sum of neutrophil and eosinophil counts null http://www.ebi.ac.uk/efo/EFO_0009390 node Orphanet_216975 Niemann-Pick disease type C, severe early infantile neurologic onset null http://www.orpha.net/ORDO/Orphanet_216975 node EFO_0008873 PSI-seq null http://www.ebi.ac.uk/efo/EFO_0008873 node EFO_0008710 Digital RNA null http://www.ebi.ac.uk/efo/EFO_0008710 node EFO_0008686 ChIPmentation null http://www.ebi.ac.uk/efo/EFO_0008686 node EFO_0003583 obsolete_somite 4 null http://www.ebi.ac.uk/efo/EFO_0003583 node EFO_0000688 sampling site null http://www.ebi.ac.uk/efo/EFO_0000688 node MONDO_0013824 Joubert syndrome 17 null http://purl.obolibrary.org/obo/MONDO_0013824 node EFO_0007606 Ba-1 null http://www.ebi.ac.uk/efo/EFO_0007606 node Orphanet_329478 Adult-onset distal myopathy due to VCP mutation null http://www.orpha.net/ORDO/Orphanet_329478 node EFO_0007042 polychlorinated biphenyls measurement null http://www.ebi.ac.uk/efo/EFO_0007042 node FMA_24984 calf null http://purl.obolibrary.org/obo/FMA_24984 node Orphanet_3375 Trisomy X null http://www.orpha.net/ORDO/Orphanet_3375 node EFO_0007419 Paramyxoviridae infectious disease null http://www.ebi.ac.uk/efo/EFO_0007419 node HP_0004872 Incisional hernia null http://purl.obolibrary.org/obo/HP_0004872 node Orphanet_79145 Dowling-Degos disease null http://www.orpha.net/ORDO/Orphanet_79145 node EFO_0001042 obsolete_xylem null http://www.ebi.ac.uk/efo/EFO_0001042 node EFO_0008297 teratocarcinoma-derived growth factor 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008297 node MONDO_0002182 communication disorder null http://purl.obolibrary.org/obo/MONDO_0002182 node MONDO_0013389 developmental and epileptic encephalopathy, 12 null http://purl.obolibrary.org/obo/MONDO_0013389 node Orphanet_465 Congenital plasminogen activator inhibitor type 1 deficiency null http://www.orpha.net/ORDO/Orphanet_465 node EFO_0000776 Aeromonas hydrophila infection null http://www.ebi.ac.uk/efo/EFO_0000776 node EFO_0009560 otitis externa null http://www.ebi.ac.uk/efo/EFO_0009560 node EFO_0008611 localised cicatricial pemphigoid null http://www.ebi.ac.uk/efo/EFO_0008611 node UBERON_0008904 neuromast null http://purl.obolibrary.org/obo/UBERON_0008904 node EFO_0000599 129/Sv null http://www.ebi.ac.uk/efo/EFO_0000599 node EFO_0007130 acute disseminated encephalomyelitis null http://www.ebi.ac.uk/efo/EFO_0007130 node Orphanet_238766 Ptosis - syndactyly - learning difficulties null http://www.orpha.net/ORDO/Orphanet_238766 node HP_0002290 Poliosis null http://purl.obolibrary.org/obo/HP_0002290 node Orphanet_88632 Familial ocular anterior segment mesenchymal dysgenesis null http://www.orpha.net/ORDO/Orphanet_88632 node Orphanet_67045 X-linked intellectual disability with isolated growth hormone deficiency null http://www.orpha.net/ORDO/Orphanet_67045 node Orphanet_79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency null http://www.orpha.net/ORDO/Orphanet_79233 node UO_0000163 mass percent null http://purl.obolibrary.org/obo/UO_0000163 node MONDO_0013477 hypertrophic cardiomyopathy 20 null http://purl.obolibrary.org/obo/MONDO_0013477 node EFO_0008198 kininogen-1 measurement null http://www.ebi.ac.uk/efo/EFO_0008198 node HP_0002919 Ketonuria Acetone is the main component of the ketone bodies. http://purl.obolibrary.org/obo/HP_0002919 node HP_0006699 Premature atrial contractions null http://purl.obolibrary.org/obo/HP_0006699 node Orphanet_2523 Microcephaly - brain defect - spasticity - hypernatremia null http://www.orpha.net/ORDO/Orphanet_2523 node CHEBI_35457 angiotensin-converting enzyme inhibitor null http://purl.obolibrary.org/obo/CHEBI_35457 node CHEBI_63939 sodium tungstate dihydrate null http://purl.obolibrary.org/obo/CHEBI_63939 node Orphanet_228277 Familial anetoderma null http://www.orpha.net/ORDO/Orphanet_228277 node HP_0100790 Hernia null http://purl.obolibrary.org/obo/HP_0100790 node EFO_0002596 obsolete_carotid artery endothelium null http://www.ebi.ac.uk/efo/EFO_0002596 node EFO_0010437 triacylglycerol 58:10 measurement null http://www.ebi.ac.uk/efo/EFO_0010437 node CHEBI_2376 acarbose null http://purl.obolibrary.org/obo/CHEBI_2376 node CLO_0010523 GM08390 null http://purl.obolibrary.org/obo/CLO_0010523 node EFO_0003919 risk factor null http://www.ebi.ac.uk/efo/EFO_0003919 node MONDO_0020753 Orthocoronavirinae infectious disease null http://purl.obolibrary.org/obo/MONDO_0020753 node HP_0000276 Long face Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. http://purl.obolibrary.org/obo/HP_0000276 node EFO_0000922 obsolete_substantia nigra null http://www.ebi.ac.uk/efo/EFO_0000922 node EFO_1000814 anthracosis null http://www.ebi.ac.uk/efo/EFO_1000814 node EFO_0010911 C-X-C motif chemokine 16 measurement null http://www.ebi.ac.uk/efo/EFO_0010911 node EFO_0010892 hydrolisis collection protocol null http://www.ebi.ac.uk/efo/EFO_0010892 node MONDO_0017596 diffuse large B-cell lymphoma of the central nervous system null http://purl.obolibrary.org/obo/MONDO_0017596 node Orphanet_217587 Mitochondrial disease with hypertrophic cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_217587 node CL_0000790 immature alpha-beta T cell null http://purl.obolibrary.org/obo/CL_0000790 node EFO_0004554 genomic measurement null http://www.ebi.ac.uk/efo/EFO_0004554 node EFO_0005377 UACC-62 null http://www.ebi.ac.uk/efo/EFO_0005377 node GO_0003008 system process null http://purl.obolibrary.org/obo/GO_0003008 node NCBITaxon_28829 Solea senegalensis null http://purl.obolibrary.org/obo/NCBITaxon_28829 node EFO_0010044 STARR-Seq null http://www.ebi.ac.uk/efo/EFO_0010044 node Orphanet_141007 Orofaciodigital syndrome type 9 null http://www.orpha.net/ORDO/Orphanet_141007 node EFO_0010525 propionic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010525 node CHEBI_88765 pregnanediol-3-glucuronide null http://purl.obolibrary.org/obo/CHEBI_88765 node EFO_0001113 GM07055 null http://www.ebi.ac.uk/efo/EFO_0001113 node Orphanet_138 CHARGE syndrome null http://www.orpha.net/ORDO/Orphanet_138 node Orphanet_75497 X-linked Ehlers-Danlos syndrome null http://www.orpha.net/ORDO/Orphanet_75497 node EFO_1001210 tethered spinal cord syndrome null http://www.ebi.ac.uk/efo/EFO_1001210 node EFO_1000902 drug psychosis null http://www.ebi.ac.uk/efo/EFO_1000902 node Orphanet_1431 Paroxysmal dyskinesia null http://www.orpha.net/ORDO/Orphanet_1431 node BTO_0000018 A-549 cell null http://purl.obolibrary.org/obo/BTO_0000018 node Orphanet_85182 Diaphyseal medullary stenosis - bone malignancy null http://www.orpha.net/ORDO/Orphanet_85182 node UBERON_0003505 trachea blood vessel null http://purl.obolibrary.org/obo/UBERON_0003505 node EFO_0004642 cortisol secretion measurement null http://www.ebi.ac.uk/efo/EFO_0004642 node EFO_0000271 obsolete_astrocytic tumor null http://www.ebi.ac.uk/efo/EFO_0000271 node EFO_1000035 infectious colitis null http://www.ebi.ac.uk/efo/EFO_1000035 node HP_0011105 Hypervolemia null http://purl.obolibrary.org/obo/HP_0011105 node EFO_0004465 fasting blood glucose measurement null http://www.ebi.ac.uk/efo/EFO_0004465 node EFO_0003538 obsolete_posttemporal null http://www.ebi.ac.uk/efo/EFO_0003538 node Orphanet_45358 Congenital fibrosis of extraocular muscles null http://www.orpha.net/ORDO/Orphanet_45358 node EFO_0010132 decreased fine motor function null http://www.ebi.ac.uk/efo/EFO_0010132 node EFO_0004278 sudden cardiac arrest Change to current cardiac arrthymia parent requested and confirmed as a correct use of is-a by James Ware, cardiac expert. http://www.ebi.ac.uk/efo/EFO_0004278 node Orphanet_811 Shwachman-Diamond syndrome null http://www.orpha.net/ORDO/Orphanet_811 node Orphanet_294049 Reunion Island's Larsen syndrome null http://www.orpha.net/ORDO/Orphanet_294049 node UBERON_0004134 proximal tubule null http://purl.obolibrary.org/obo/UBERON_0004134 node MONDO_0021164 posthitis null http://purl.obolibrary.org/obo/MONDO_0021164 node Orphanet_624 Familial multiple nevi flammei null http://www.orpha.net/ORDO/Orphanet_624 node Orphanet_314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome null http://www.orpha.net/ORDO/Orphanet_314394 node Orphanet_363245 Genetic progeroid syndrome null http://www.orpha.net/ORDO/Orphanet_363245 node EFO_1001040 meningococcal meningitis null http://www.ebi.ac.uk/efo/EFO_1001040 node MONDO_0001815 extrapyramidal and movement disease null http://purl.obolibrary.org/obo/MONDO_0001815 node Orphanet_189439 Primary pigmented nodular adrenocortical disease null http://www.orpha.net/ORDO/Orphanet_189439 node EFO_0005492 JK1107 null http://www.ebi.ac.uk/efo/EFO_0005492 node Orphanet_404448 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder null http://www.orpha.net/ORDO/Orphanet_404448 node Orphanet_93317 Spondylometaphyseal dysplasia, Sedaghatian type null http://www.orpha.net/ORDO/Orphanet_93317 node Orphanet_51636 WHIM syndrome null http://www.orpha.net/ORDO/Orphanet_51636 node EFO_0006695 NCI-H727 null http://www.ebi.ac.uk/efo/EFO_0006695 node HP_0008947 Infantile muscular hypotonia This term should not be used for new annotations. Instead, state the type of onset of hypotonia more exactly. http://purl.obolibrary.org/obo/HP_0008947 node NCBITaxon_9534 Chlorocebus aethiops null http://purl.obolibrary.org/obo/NCBITaxon_9534 node CLO_0013214 GM17272 null http://purl.obolibrary.org/obo/CLO_0013214 node NCBITaxon_67606 Drechslera sp. null http://purl.obolibrary.org/obo/NCBITaxon_67606 node EFO_0006532 A3/KAW null http://www.ebi.ac.uk/efo/EFO_0006532 node EFO_1001426 Spinal Cord Ischemia null http://www.ebi.ac.uk/efo/EFO_1001426 node UBERON_0001893 telencephalon null http://purl.obolibrary.org/obo/UBERON_0001893 node NCBITaxon_11987 Melon necrotic spot virus null http://purl.obolibrary.org/obo/NCBITaxon_11987 node EFO_0004929 M0 distant metastasis stage null http://www.ebi.ac.uk/efo/EFO_0004929 node CL_0002426 CD11b-positive, CD27-positive natural killer cell, mouse A natural killer cell that is NK1.1-positive, CD11b-positive, and CD27-positive. http://purl.obolibrary.org/obo/CL_0002426 node HP_0025270 Abnormality of esophagus physiology null http://purl.obolibrary.org/obo/HP_0025270 node Orphanet_2928 Polyneuropathy - intellectual disability - acromicria - premature menopause Editor note: awaiting HPO http://www.orpha.net/ORDO/Orphanet_2928 node PR_000016283 thyroglobulin null http://purl.obolibrary.org/obo/PR_000016283 node EFO_0006620 KNS-62 null http://www.ebi.ac.uk/efo/EFO_0006620 node EFO_1000896 diabetic angiopathy null http://www.ebi.ac.uk/efo/EFO_1000896 node PO_0020040 leaf base If you are annotating to this term, please add an additional annotation to vascular leaf (PO:0009025) or non-vascular leaf (PO:0025075), depending on the species. All annotations for angiosperms, gymnosperms, and pteridophytes should go to vascular leaf and all annotations for bryophytes should go to non-vascular leaf. http://purl.obolibrary.org/obo/PO_0020040 node EFO_1001514 endometrial endometrioid carcinoma null http://www.ebi.ac.uk/efo/EFO_1001514 node NCBITaxon_29159 Crassostrea gigas null http://purl.obolibrary.org/obo/NCBITaxon_29159 node UBERON_0001981 blood vessel null http://purl.obolibrary.org/obo/UBERON_0001981 node EFO_0009795 serum urea measurement null http://www.ebi.ac.uk/efo/EFO_0009795 node EFO_0007382 multiple chemical sensitivity Editor note: consider obsoletion http://www.ebi.ac.uk/efo/EFO_0007382 node CL_0002394 CD141-positive myeloid dendritic cell Markers are found in human cells. Normally they represent 3-5% of peripheral blood mDCs (human). These cells express high levels of CD283 (TLR3), are capable of producing IL-12p70 and IFN-beta upon stimulation, and inducing a TH1 response [PMCID:PMC2882828]. They are also Necl2-positive. May be human equivalent of murine CD8alpha-positive DCs. http://purl.obolibrary.org/obo/CL_0002394 node CL_0002514 Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell null http://purl.obolibrary.org/obo/CL_0002514 node NCBITaxon_784 Orientia tsutsugamushi null http://purl.obolibrary.org/obo/NCBITaxon_784 node EFO_0006841 respiratory disease biomarker null http://www.ebi.ac.uk/efo/EFO_0006841 node MONDO_0030017 combined oxidative phosphorylation deficiency 43 null http://purl.obolibrary.org/obo/MONDO_0030017 node MONDO_0009346 histidinuria due to a renal tubular defect null http://purl.obolibrary.org/obo/MONDO_0009346 node Orphanet_254516 Motor developmental delay due to 14q32.2 paternally expressed gene defect null http://www.orpha.net/ORDO/Orphanet_254516 node EFO_1000984 inflammatory breast carcinoma null http://www.ebi.ac.uk/efo/EFO_1000984 node Orphanet_2108 Hallermann-Streiff syndrome null http://www.orpha.net/ORDO/Orphanet_2108 node EFO_0007470 rhinoscleroma null http://www.ebi.ac.uk/efo/EFO_0007470 node Orphanet_98772 Spinocerebellar ataxia type 19/22 null http://www.orpha.net/ORDO/Orphanet_98772 node Orphanet_98567 Eyelids malposition disorder null http://www.orpha.net/ORDO/Orphanet_98567 node MONDO_0030105 galactosemia 4 null http://purl.obolibrary.org/obo/MONDO_0030105 node MONDO_0033532 Suleiman-El-Hattab syndrome null http://purl.obolibrary.org/obo/MONDO_0033532 node EFO_1001357 Lentivirus Infections null http://www.ebi.ac.uk/efo/EFO_1001357 node EFO_1001838 renal nutcracker syndrome null http://www.ebi.ac.uk/efo/EFO_1001838 node MONDO_0000468 third-degree atrioventricular block null http://purl.obolibrary.org/obo/MONDO_0000468 node NCBITaxon_56641 Fusarium cerealis null http://purl.obolibrary.org/obo/NCBITaxon_56641 node HP_0009736 Tibial pseudarthrosis null http://purl.obolibrary.org/obo/HP_0009736 node EFO_0009251 Rubricyte Count null http://www.ebi.ac.uk/efo/EFO_0009251 node Orphanet_93282 Spondyloepimetaphyseal dysplasia, Pakistani type null http://www.orpha.net/ORDO/Orphanet_93282 node EFO_0003199 leptin null http://www.ebi.ac.uk/efo/EFO_0003199 node EFO_0008149 hemopexin measurement null http://www.ebi.ac.uk/efo/EFO_0008149 node Orphanet_1794 Oculomaxillofacial dysostosis null http://www.orpha.net/ORDO/Orphanet_1794 node EFO_0002199 HSSultan null http://www.ebi.ac.uk/efo/EFO_0002199 node Orphanet_98655 Lens shape anomaly null http://www.orpha.net/ORDO/Orphanet_98655 node Orphanet_35173 X-linked dominant chondrodysplasia punctata null http://www.orpha.net/ORDO/Orphanet_35173 node Orphanet_139485 Autosomal recessive ataxia due to ubiquinone deficiency null http://www.orpha.net/ORDO/Orphanet_139485 node EFO_1001445 Tungiasis null http://www.ebi.ac.uk/efo/EFO_1001445 node NCBITaxon_8364 Xenopus (Silurana) tropicalis null http://purl.obolibrary.org/obo/NCBITaxon_8364 node EFO_1000398 Non-Functional Pancreatic Neuroendocrine Tumor null http://www.ebi.ac.uk/efo/EFO_1000398 node EFO_0009955 post-operative acute kidney injury null http://www.ebi.ac.uk/efo/EFO_0009955 node EFO_0010495 guanosine monophosphate measurement null http://www.ebi.ac.uk/efo/EFO_0010495 node EFO_0005875 embryonic stage 15 Temporal ordering number - 360. http://www.ebi.ac.uk/efo/EFO_0005875 node EFO_0004948 TX null http://www.ebi.ac.uk/efo/EFO_0004948 node NCBITaxon_7238 Drosophila sechellia null http://purl.obolibrary.org/obo/NCBITaxon_7238 node NCBITaxon_88211 Petrolisthes cinctipes null http://purl.obolibrary.org/obo/NCBITaxon_88211 node UBERON_0002349 myocardium null http://purl.obolibrary.org/obo/UBERON_0002349 node FBbt_00000442 Malpighian tubule primordium null http://purl.obolibrary.org/obo/FBbt_00000442 node CHEBI_36252 glycochenodeoxycholate null http://purl.obolibrary.org/obo/CHEBI_36252 node Orphanet_1882 Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia null http://www.orpha.net/ORDO/Orphanet_1882 node EFO_0009152 mental retardation, autosomal dominant 52 null http://www.ebi.ac.uk/efo/EFO_0009152 node PO_0000229 flower meristem In Zea mays and other grasses, the floret meristem is part of a spikelet and develops into a specific type of floret. If you are annotating to this structure for Zea mays or other grasses, please also add an annotation to the spikelet type that the meristem is part of. Choose the most specific term possible from: spikelet (PO:0009051), ear spikelet (PO:0006320), ear pedicellate spikelet (PO:0006348), ear sessile spikelet (PO:0006349), tassel spikelet (PO:0006309), tassel pedicellate spikelet (PO:0006312), tassel sessile spikelet (PO:0006311). http://purl.obolibrary.org/obo/PO_0000229 node MONDO_0015933 non-syndromic urogenital tract malformation of male null http://purl.obolibrary.org/obo/MONDO_0015933 node EFO_0002287 NCI-H2347 null http://www.ebi.ac.uk/efo/EFO_0002287 node NCBITaxon_112407 Cuscuta pentagona null http://purl.obolibrary.org/obo/NCBITaxon_112407 node MONDO_0044925 oral cavity carcinoma null http://purl.obolibrary.org/obo/MONDO_0044925 node BTO_0001948 JURKAT E-6.1 cell This is a pseudodiploid human cell line. The modal chromosome number is 46, occurring in 74% with polyploidy at 5.3%. The karyotype is 46,XY,-2,-18,del(2) (p21p23),del(18) (p11.2). Most cells had normal X and Y chromosomes. http://purl.obolibrary.org/obo/BTO_0001948 node EFO_0008458 tacrolimus measurement null http://www.ebi.ac.uk/efo/EFO_0008458 node NCBITaxon_5722 Trichomonas vaginalis null http://purl.obolibrary.org/obo/NCBITaxon_5722 node EFO_0003550 obsolete_descending octaval nucleus null http://www.ebi.ac.uk/efo/EFO_0003550 node MONDO_0044738 Gabriele de Vries syndrome null http://purl.obolibrary.org/obo/MONDO_0044738 node NCBITaxon_1308 Streptococcus thermophilus null http://purl.obolibrary.org/obo/NCBITaxon_1308 node CHEBI_6912 alpha-methyl-L-tyrosine null http://purl.obolibrary.org/obo/CHEBI_6912 node UBERON_0001415 skin of pelvis null http://purl.obolibrary.org/obo/UBERON_0001415 node EFO_1001290 chorea gravidarum null http://www.ebi.ac.uk/efo/EFO_1001290 node EFO_0004321 attempted suicide null http://www.ebi.ac.uk/efo/EFO_0004321 node GO_0051701 interaction with host null http://purl.obolibrary.org/obo/GO_0051701 node NCBITaxon_70784 Julidochromis transcriptus null http://purl.obolibrary.org/obo/NCBITaxon_70784 node PO_0007600 floral organ differentiation stage During this stage, the process of floral organ development (GO:0048437) occurs, defined as the process whose specific outcome is the progression of the floral organ over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/PO_0007600 node EFO_0003802 refractory anemia null http://www.ebi.ac.uk/efo/EFO_0003802 node Orphanet_313947 2q23.1 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_313947 node Orphanet_414 Gyrate atrophy of choroid and retina null http://www.orpha.net/ORDO/Orphanet_414 node EFO_0003151 obsolete_American null http://www.ebi.ac.uk/efo/EFO_0003151 node EFO_0003615 obsolete_primitive mesencephalic artery null http://www.ebi.ac.uk/efo/EFO_0003615 node EFO_1001994 Scleroderma Polymyositis Overlap Syndrome null http://www.ebi.ac.uk/efo/EFO_1001994 node EFO_1001909 Plantar Fasciitis null http://www.ebi.ac.uk/efo/EFO_1001909 node ZFA_0000541 marginal blastomere null http://purl.obolibrary.org/obo/ZFA_0000541 node UBERON_0003921 pancreas primordium null http://purl.obolibrary.org/obo/UBERON_0003921 node HP_0001276 Hypertonia Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. http://purl.obolibrary.org/obo/HP_0001276 node MONDO_0060551 cerebellar atrophy, developmental delay, and seizures null http://purl.obolibrary.org/obo/MONDO_0060551 node MONDO_0020755 heart block null http://purl.obolibrary.org/obo/MONDO_0020755 node UBERON_0003850 telencephalon neural crest null http://purl.obolibrary.org/obo/UBERON_0003850 node Orphanet_99228 Mosaic monosomy X Editor note: add qualifier for mosaicism http://www.orpha.net/ORDO/Orphanet_99228 node UBERON_0002102 forelimb null http://purl.obolibrary.org/obo/UBERON_0002102 node EFO_1000200 Combined Lung Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000200 node EFO_0006988 endophenotype null http://www.ebi.ac.uk/efo/EFO_0006988 node EFO_0003703 obsolete_posterior lateral mesoderm null http://www.ebi.ac.uk/efo/EFO_0003703 node Orphanet_315 Erythrokeratoderma "en cocardes" null http://www.orpha.net/ORDO/Orphanet_315 node Orphanet_93614 Hematological disorder with renal involvement null http://www.orpha.net/ORDO/Orphanet_93614 node Orphanet_93409 Brachydactyly-syndactyly, Zhao type null http://www.orpha.net/ORDO/Orphanet_93409 node EFO_0000050 CS57644 null http://www.ebi.ac.uk/efo/EFO_0000050 node HP_0010569 Elevated 7-dehydrocholesterol Elevated 7-dehydrocholesterol levels occur as the result of a deficiency of the enzyme delta-7-sterol reductase, the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development. Homozygous mutations in the gene encoding for this enzyme are the molecular genetic cause of Smith-Lemli-Opitz Syndrome. http://purl.obolibrary.org/obo/HP_0010569 node NCBITaxon_326425 Lactobacillus helveticus CNRZ32 null http://purl.obolibrary.org/obo/NCBITaxon_326425 node EFO_0005079 spotted single stranded oligo reporter null http://www.ebi.ac.uk/efo/EFO_0005079 node EFO_0005183 Boran cattle null http://www.ebi.ac.uk/efo/EFO_0005183 node EFO_0002358 SW1088 null http://www.ebi.ac.uk/efo/EFO_0002358 node EFO_0009974 in situ HiC null http://www.ebi.ac.uk/efo/EFO_0009974 node CL_0000336 adrenal medulla chromaffin cell null http://purl.obolibrary.org/obo/CL_0000336 node Orphanet_166016 Multiple epiphyseal dysplasia, Lowry type null http://www.orpha.net/ORDO/Orphanet_166016 node EFO_0000613 myxoid liposarcoma null http://www.ebi.ac.uk/efo/EFO_0000613 node Orphanet_183472 Genetic dermis disorder null http://www.orpha.net/ORDO/Orphanet_183472 node Orphanet_352629 16q24.1 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_352629 node EFO_0005271 sleep duration null http://www.ebi.ac.uk/efo/EFO_0005271 node CL_0002117 IgG-negative class switched memory B cell null http://purl.obolibrary.org/obo/CL_0002117 node Orphanet_2078 Geroderma osteodysplastica null http://www.orpha.net/ORDO/Orphanet_2078 node EFO_0004006 mutant strain null http://www.ebi.ac.uk/efo/EFO_0004006 node NCBITaxon_495941 Falco chicquera null http://purl.obolibrary.org/obo/NCBITaxon_495941 node EFO_0000220 acute lymphoblastic leukemia null http://www.ebi.ac.uk/efo/EFO_0000220 node EFO_0002869 U2OS null http://www.ebi.ac.uk/efo/EFO_0002869 node OBI_0200000 data transformation null http://purl.obolibrary.org/obo/OBI_0200000 node EFO_0000701 skin disease null http://www.ebi.ac.uk/efo/EFO_0000701 node Orphanet_1122 Ulnar hypoplasia - split foot null http://www.orpha.net/ORDO/Orphanet_1122 node Orphanet_268813 Myelocystocele null http://www.orpha.net/ORDO/Orphanet_268813 node Orphanet_98154 Uniparental disomy of paternal origin null http://www.orpha.net/ORDO/Orphanet_98154 node Orphanet_329252 Spondylocostal dysostosis - hypospadias - intellectual disability null http://www.orpha.net/ORDO/Orphanet_329252 node Orphanet_2770 Nasu-Hakola disease null http://www.orpha.net/ORDO/Orphanet_2770 node HP_0000549 Abnormal conjugate eye movement null http://purl.obolibrary.org/obo/HP_0000549 node EFO_0004227 Dengue Hemorrhagic Fever null http://www.ebi.ac.uk/efo/EFO_0004227 node EFO_0007073 CyT49 null http://www.ebi.ac.uk/efo/EFO_0007073 node Orphanet_2166 Holoprosencephaly - postaxial polydactyly null http://www.orpha.net/ORDO/Orphanet_2166 node CL_0002018 CD71-negative, GlyA-positive orthochromatic erythroblast Markers associated with human cells. http://purl.obolibrary.org/obo/CL_0002018 node UBERON_0000382 apocrine sweat gland null http://purl.obolibrary.org/obo/UBERON_0000382 node GO_0043226 organelle null http://purl.obolibrary.org/obo/GO_0043226 node CHEBI_133514 2-hydroxyoctanoate null http://purl.obolibrary.org/obo/CHEBI_133514 node EFO_1000194 Colorectal Juvenile Polyp null http://www.ebi.ac.uk/efo/EFO_1000194 node EFO_0008824 NanoCAGE null http://www.ebi.ac.uk/efo/EFO_0008824 node EFO_0000121 CS57801 null http://www.ebi.ac.uk/efo/EFO_0000121 node EFO_0003697 obsolete_primordial midbrain channel null http://www.ebi.ac.uk/efo/EFO_0003697 node Orphanet_1023 Congenital generalized hypertrichosis, Ambras type null http://www.orpha.net/ORDO/Orphanet_1023 node MONDO_0000147 polyposis null http://purl.obolibrary.org/obo/MONDO_0000147 node EFO_0006372 COLO 679 null http://www.ebi.ac.uk/efo/EFO_0006372 node MONDO_0000732 combined oxidative phosphorylation deficiency null http://purl.obolibrary.org/obo/MONDO_0000732 node EFO_0007161 Avulavirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007161 node Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 null http://www.orpha.net/ORDO/Orphanet_970 node MONDO_0015682 primary peritoneal tumor null http://purl.obolibrary.org/obo/MONDO_0015682 node HP_0001962 Palpitations null http://purl.obolibrary.org/obo/HP_0001962 node MONDO_0024483 urothelial hyperplasia null http://purl.obolibrary.org/obo/MONDO_0024483 node OBI_0600044 lavage null http://purl.obolibrary.org/obo/OBI_0600044 node Orphanet_73229 Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures null http://www.orpha.net/ORDO/Orphanet_73229 node EFO_0009797 lung disease associated with cystic fibrosis null http://www.ebi.ac.uk/efo/EFO_0009797 node EFO_0008226 MAP kinase-activated protein kinase 3 measurement null http://www.ebi.ac.uk/efo/EFO_0008226 node Orphanet_3231 Deafness-onychodystrophy syndrome null http://www.orpha.net/ORDO/Orphanet_3231 node EFO_0008707 ddRADseq null http://www.ebi.ac.uk/efo/EFO_0008707 node EFO_0003785 allergy null http://www.ebi.ac.uk/efo/EFO_0003785 node EFO_0001372 neonate null http://www.ebi.ac.uk/efo/EFO_0001372 node MONDO_0000820 cerebral cavernous malformation null http://purl.obolibrary.org/obo/MONDO_0000820 node Orphanet_99092 Interventricular septum aneurysm null http://www.orpha.net/ORDO/Orphanet_99092 node EFO_1000680 mucous membrane pemphigoid null http://www.ebi.ac.uk/efo/EFO_1000680 node EFO_0002143 CORL279 null http://www.ebi.ac.uk/efo/EFO_0002143 node MONDO_0042968 partial duplication of chromosome 12 null http://purl.obolibrary.org/obo/MONDO_0042968 node EFO_0001216 MDAMB468 null http://www.ebi.ac.uk/efo/EFO_0001216 node EFO_0008928 SLBS null http://www.ebi.ac.uk/efo/EFO_0008928 node EFO_0000632 oligodendroglioma null http://www.ebi.ac.uk/efo/EFO_0000632 node MONDO_0013517 beta-thalassemia HBB/LCRB null http://purl.obolibrary.org/obo/MONDO_0013517 node HP_0001863 Toe clinodactyly null http://purl.obolibrary.org/obo/HP_0001863 node Orphanet_36367 Distal monosomy 1q null http://www.orpha.net/ORDO/Orphanet_36367 node EFO_1000845 brain edema null http://www.ebi.ac.uk/efo/EFO_1000845 node EFO_0003867 rhabdomyolysis null http://www.ebi.ac.uk/efo/EFO_0003867 node EFO_0008314 vascular endothelial growth factor receptor 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008314 node UBERON_0001930 paraventricular nucleus of hypothalamus null http://purl.obolibrary.org/obo/UBERON_0001930 node MONDO_0004579 retinoschisis null http://purl.obolibrary.org/obo/MONDO_0004579 node Orphanet_294998 Brachydactyly of toes null http://www.orpha.net/ORDO/Orphanet_294998 node CLO_0013781 GM17185 null http://purl.obolibrary.org/obo/CLO_0013781 node MONDO_0014836 Charcot-Marie-Tooth disease axonal type 2CC null http://purl.obolibrary.org/obo/MONDO_0014836 node Orphanet_93579 Atypical hemolytic-uremic syndrome with H factor anomaly null http://www.orpha.net/ORDO/Orphanet_93579 node Orphanet_2637 Microcephalic osteodysplastic primordial dwarfism type II null http://www.orpha.net/ORDO/Orphanet_2637 node UBERON_0001495 pectoral muscle This currently groups the major and minor muscles (which have different attachment sites) as well as the AAO structure: Muscle which is comprised of three heads. The anterior head is the portio epicoracoidea that originates on the epicoracoid cartilage and inserts on the deltoid crest of the humerus. The next more posterior head, portio sternalis, originates on the sternum and inserts in the groove next to the deltoid crest of the humerus. The most posterior head, portio abdominalis, arises from the M. rectus abdominis and inserts on the deltoid crest of the humerus http://purl.obolibrary.org/obo/UBERON_0001495 node Orphanet_285014 Rare disease with thoracic aortic aneurysm and aortic dissection null http://www.orpha.net/ORDO/Orphanet_285014 node EFO_0003955 bacterial sexually transmitted disease null http://www.ebi.ac.uk/efo/EFO_0003955 node CHEBI_85752 triacylglycerol 58:10 null http://purl.obolibrary.org/obo/CHEBI_85752 node EFO_0008402 susceptibility to cold sores measurement null http://www.ebi.ac.uk/efo/EFO_0008402 node Orphanet_158668 Epidermolysis bullosa simplex due to plakophilin deficiency null http://www.orpha.net/ORDO/Orphanet_158668 node Orphanet_111 Barth syndrome null http://www.orpha.net/ORDO/Orphanet_111 node EFO_1000746 panniculitis null http://www.ebi.ac.uk/efo/EFO_1000746 node CHEBI_11951 4-acetamidobutanoate null http://purl.obolibrary.org/obo/CHEBI_11951 node GO_0019637 organophosphate metabolic process null http://purl.obolibrary.org/obo/GO_0019637 node Orphanet_25968 Benign occipital epilepsy null http://www.orpha.net/ORDO/Orphanet_25968 node HP_0000132 Menorrhagia null http://purl.obolibrary.org/obo/HP_0000132 node Orphanet_69028 Syndrome with brachydactyly null http://www.orpha.net/ORDO/Orphanet_69028 node Orphanet_3447 Weaver syndrome null http://www.orpha.net/ORDO/Orphanet_3447 node EFO_0003081 SK-MEL-28 null http://www.ebi.ac.uk/efo/EFO_0003081 node Orphanet_1527 Craniosynostosis, Philadelphia type null http://www.orpha.net/ORDO/Orphanet_1527 node EFO_0005736 bronchial smooth muscle cell derived cell line null http://www.ebi.ac.uk/efo/EFO_0005736 node CHEBI_37684 mannose null http://purl.obolibrary.org/obo/CHEBI_37684 node EFO_0000919 obsolete_midbrain null http://www.ebi.ac.uk/efo/EFO_0000919 node MONDO_0004069 inborn mitochondrial metabolism disorder null http://purl.obolibrary.org/obo/MONDO_0004069 node EFO_1000353 Malignant Jugulotympanic Paraganglioma null http://www.ebi.ac.uk/efo/EFO_1000353 node CHEBI_25629 octadecanoate null http://purl.obolibrary.org/obo/CHEBI_25629 node CL_0000787 memory B cell Memory B-cells are also reportedly CD5-negative, CD10-negative, CD21-positive, CD22-positive, CD23-negative, CD24-positive, CD25-positive, CD27-positive, CD34-negative, CD38-negative, CD40-positive, CD43-negative, CD44-positive, CD45-positive, CD53-positive, CD80-negative, CD81-negative, CD86-positive, and CD196/CCR6-positive. http://purl.obolibrary.org/obo/CL_0000787 node CL_0000806 DN2 thymocyte Note that this type of thymocyte is at the earliest stage of T cell receptor rearrangement of the beta, gamma, and delta T cell receptor chains. http://purl.obolibrary.org/obo/CL_0000806 node HP_0000220 Velopharyngeal insufficiency null http://purl.obolibrary.org/obo/HP_0000220 node CHEBI_41879 dexamethasone null http://purl.obolibrary.org/obo/CHEBI_41879 node GO_0019538 protein metabolic process null http://purl.obolibrary.org/obo/GO_0019538 node HP_0100698 Subcutaneous neurofibromas null http://purl.obolibrary.org/obo/HP_0100698 node EFO_0005824 ML-DmD11 null http://www.ebi.ac.uk/efo/EFO_0005824 node EFO_1001292 Circoviridae Infections null http://www.ebi.ac.uk/efo/EFO_1001292 node Orphanet_1428 Familial chondromalacia patellae null http://www.orpha.net/ORDO/Orphanet_1428 node MONDO_0010560 cleft palate with or without ankyloglossia, X-linked null http://purl.obolibrary.org/obo/MONDO_0010560 node MONDO_0016401 energy metabolism disorder with epilepsy null http://purl.obolibrary.org/obo/MONDO_0016401 node EFO_0005637 ATC Code D Dermatologicals D DERMATOLOGICALS Most of the drugs in this group are preparations for topical use. Some few preparations for systemic use with clear dermatological applications, e.g. griseofulvin (antimycotic), retinoids (for treatment of acne) and psoralens and retinoids (for treatment of psoriasis) are classified in this group. Only oral preparations in ATC group D are given DDDs. Most products in this group are for topical use, and no DDDs are assigned because the amount given per day can vary very much according to the intensity and distribution of the disease. Consumption figures for these dermatological preparations can be expressed in grams of preparations regardless of strength. D01 ANTIFUNGALS FOR DERMATOLOGICAL USE This group comprises preparations for topical and systemic treatment of dermatological mycoses. Preparations with systemic antimycotic effect, see also J02A - Antimycotics for systemic use. Topical preparations used especially in gynecological infections are classified in G01A - Antiinfectives and antiseptics, excl. combinations with corticosteroids or G01B - Antiinfectives/antiseptics in combination with corticosteroids. Preparations for local treatment of fungal infections in the mouth, see A01AB - Antiinfectives and antiseptics for local oral treatment. D02 EMOLLIENTS AND PROTECTIVES D03 PREPARATIONS FOR TREATMENT OF WOUNDS AND ULCERS Topical preparations used in the treatment of wounds and ulcers, e.g. leg ulcers, are classified in this group. Protective ointments are classified in D02A - Emollients and protectives. See also D06 - Antibiotic and chemotherapeutics for dermatological use. D08 - Antiseptics and disinfectants. D09 - Medicated dressings. D04 ANTIPRURITICS, INCL. ANTIHISTAMINES, ANESTHETICS, ETC. D05 ANTIPSORIATICS D06 ANTIBIOTICS AND CHEMOTHERAPEUTICS FOR DERMATOLOGICAL USE This group comprises products for topical use in skin infections etc. D07 CORTICOSTEROIDS, DERMATOLOGICAL PREPARATIONS As a main rule, all topical corticosteroid preparations should be classified in this group. There are, however, some few exceptions: Combinations of corticosteroids and antiinfectives for gynaecological use, see G01B. Corticosteroids for local oral treatment, see A01AC. Anti-acne preparations, see D10A. Antihemorrhoidals with corticosteroids, see C05AA. Corticosteroids for ophthalmological or otological use, see S - Sensory organs. D08 ANTISEPTICS AND DISINFECTANTS D09 MEDICATED DRESSINGS D10 ANTI-ACNE PREPARATIONS The DDDs are based on the treatment of severe acne. D11 OTHER DERMATOLOGICAL PREPARATIONS http://www.ebi.ac.uk/efo/EFO_0005637 node CHEBI_37585 sodium dihydrogenphosphate null http://purl.obolibrary.org/obo/CHEBI_37585 node EFO_0002916 esophageal carcinoma null http://www.ebi.ac.uk/efo/EFO_0002916 node EFO_1001136 obsolete_pulmonary sclerosing hemangioma null http://www.ebi.ac.uk/efo/EFO_1001136 node MONDO_0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 null http://purl.obolibrary.org/obo/MONDO_0011837 node HP_0007968 Remnants of the hyaloid vascular system null http://purl.obolibrary.org/obo/HP_0007968 node EFO_0004639 phospholipid measurement null http://www.ebi.ac.uk/efo/EFO_0004639 node EFO_0003153 obsolete_Asian Indian null http://www.ebi.ac.uk/efo/EFO_0003153 node GO_0006768 biotin metabolic process null http://purl.obolibrary.org/obo/GO_0006768 node EFO_0002049 BCKN-1 null http://www.ebi.ac.uk/efo/EFO_0002049 node EFO_0010129 breakfast skipping measurement null http://www.ebi.ac.uk/efo/EFO_0010129 node Orphanet_352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies null http://www.orpha.net/ORDO/Orphanet_352687 node Orphanet_1092 Renal-genital-middle ear anomalies null http://www.orpha.net/ORDO/Orphanet_1092 node Orphanet_295243 Macrodactyly of toes, unilateral null http://www.orpha.net/ORDO/Orphanet_295243 node MONDO_0000921 ampulla of vater neoplasm null http://purl.obolibrary.org/obo/MONDO_0000921 node HP_0012450 Chronic constipation null http://purl.obolibrary.org/obo/HP_0012450 node UBERON_0003126 trachea null http://purl.obolibrary.org/obo/UBERON_0003126 node MONDO_0036976 benign epithelial neoplasm null http://purl.obolibrary.org/obo/MONDO_0036976 node Orphanet_261902 Partial deletion of the short arm of chromosome 6 null http://www.orpha.net/ORDO/Orphanet_261902 node EFO_0006646 ME-180 null http://www.ebi.ac.uk/efo/EFO_0006646 node EFO_0003241 flagellin null http://www.ebi.ac.uk/efo/EFO_0003241 node EFO_0006551 CFPAC-1 null http://www.ebi.ac.uk/efo/EFO_0006551 node CHEBI_17939 puromycin null http://purl.obolibrary.org/obo/CHEBI_17939 node EFO_0006469 Panc 05.04 null http://www.ebi.ac.uk/efo/EFO_0006469 node MONDO_0016710 medulloblastoma with extensive nodularity null http://purl.obolibrary.org/obo/MONDO_0016710 node UBERON_2000633 caudal tuberculum null http://purl.obolibrary.org/obo/UBERON_2000633 node Orphanet_166478 Cerebral malformation with epilepsy null http://www.orpha.net/ORDO/Orphanet_166478 node Orphanet_1180 Ataxia - hypogonadism - choroidal dystrophy null http://www.orpha.net/ORDO/Orphanet_1180 node GO_0007596 blood coagulation null http://purl.obolibrary.org/obo/GO_0007596 node Orphanet_295126 Split foot, bilateral null http://www.orpha.net/ORDO/Orphanet_295126 node Orphanet_79253 Mild phenylketonuria null http://www.orpha.net/ORDO/Orphanet_79253 node EFO_0006529 2TS22C null http://www.ebi.ac.uk/efo/EFO_0006529 node Orphanet_309789 Rhizomelic chondrodysplasia punctata type 1 null http://www.orpha.net/ORDO/Orphanet_309789 node Orphanet_306504 Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome null http://www.orpha.net/ORDO/Orphanet_306504 node HP_0002014 Diarrhea null http://purl.obolibrary.org/obo/HP_0002014 node EFO_0006937 optic disc area measurement null http://www.ebi.ac.uk/efo/EFO_0006937 node EFO_0004091 TK22 null http://www.ebi.ac.uk/efo/EFO_0004091 node MONDO_0015490 predominantly small-vessel vasculitis null http://purl.obolibrary.org/obo/MONDO_0015490 node UBERON_2000516 periventricular grey zone null http://purl.obolibrary.org/obo/UBERON_2000516 node HP_0012603 Abnormal urine sodium concentration null http://purl.obolibrary.org/obo/HP_0012603 node Orphanet_84090 Fibronectin glomerulopathy Editor note: consider splitting out type 1, and also separate class for giant subtype http://www.orpha.net/ORDO/Orphanet_84090 node UO_0000045 base unit null http://purl.obolibrary.org/obo/UO_0000045 node Orphanet_401901 Huntington disease-like syndrome due to C9ORF72 expansions null http://www.orpha.net/ORDO/Orphanet_401901 node EFO_0008515 nodular melanoma Nodular melanoma is the most aggressive form of melanoma. It tends to grow more rapidly in thickness (penetrate the skin) than in diameter. Instead of arising from a pre-existing mole, it may appear in a spot where a lesion did not previously exist . http://www.ebi.ac.uk/efo/EFO_0008515 node NCBITaxon_7830 Scyliorhinus canicula null http://purl.obolibrary.org/obo/NCBITaxon_7830 node Orphanet_79154 2-aminoadipic 2-oxoadipic aciduria null http://www.orpha.net/ORDO/Orphanet_79154 node NCBITaxon_85571 Citrus reticulata null http://purl.obolibrary.org/obo/NCBITaxon_85571 node Orphanet_661 Ondine syndrome null http://www.orpha.net/ORDO/Orphanet_661 node Orphanet_220460 Attenuated familial adenomatous polyposis null http://www.orpha.net/ORDO/Orphanet_220460 node EFO_0007942 hip osteoarthritis symptom severity measurement null http://www.ebi.ac.uk/efo/EFO_0007942 node EFO_0005021 collection longitude null http://www.ebi.ac.uk/efo/EFO_0005021 node CL_0001025 Kit-positive, Sca1-positive common lymphoid progenitor Markers are associated with mouse cells. http://purl.obolibrary.org/obo/CL_0001025 node MONDO_0002191 syringoma null http://purl.obolibrary.org/obo/MONDO_0002191 node Orphanet_79458 Oley syndrome null http://www.orpha.net/ORDO/Orphanet_79458 node EFO_0007765 delta-6 desaturase measurement null http://www.ebi.ac.uk/efo/EFO_0007765 node UBERON_0000155 theca cell layer null http://purl.obolibrary.org/obo/UBERON_0000155 node HP_0000802 Impotence null http://purl.obolibrary.org/obo/HP_0000802 node EFO_0001777 self vs self design null http://www.ebi.ac.uk/efo/EFO_0001777 node MONDO_0045031 infectious diarrheal disease null http://purl.obolibrary.org/obo/MONDO_0045031 node HP_0004443 Lambdoidal craniosynostosis null http://purl.obolibrary.org/obo/HP_0004443 node EFO_0008603 pemphigus erythematosus null http://www.ebi.ac.uk/efo/EFO_0008603 node Orphanet_93396 Brachydactyly type A2 null http://www.orpha.net/ORDO/Orphanet_93396 node EFO_0009365 vaginal discharge null http://www.ebi.ac.uk/efo/EFO_0009365 node GO_0030101 natural killer cell activation null http://purl.obolibrary.org/obo/GO_0030101 node EFO_0008394 verbal-numerical reasoning measurement null http://www.ebi.ac.uk/efo/EFO_0008394 node Orphanet_98769 Spinocerebellar ataxia type 15/16 In orphanet, SCA16 is obsoleted in favor of 15/16 http://www.orpha.net/ORDO/Orphanet_98769 node EFO_0007853 response to mercaptopurine null http://www.ebi.ac.uk/efo/EFO_0007853 node Orphanet_65798 Goodman syndrome null http://www.orpha.net/ORDO/Orphanet_65798 node EFO_0010796 STAM binding protein measurement null http://www.ebi.ac.uk/efo/EFO_0010796 node MONDO_0030046 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity null http://purl.obolibrary.org/obo/MONDO_0030046 node Orphanet_98606 Syndromic orbital border hypoplasia null http://www.orpha.net/ORDO/Orphanet_98606 node UBERON_0000056 ureter null http://purl.obolibrary.org/obo/UBERON_0000056 node EFO_0008005 energy expenditure measurement null http://www.ebi.ac.uk/efo/EFO_0008005 node Orphanet_909 Cerebrotendinous xanthomatosis null http://www.orpha.net/ORDO/Orphanet_909 node EFO_1000554 Submandibular Gland Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000554 node MONDO_0014527 progeroid features-hepatocellular carcinoma predisposition syndrome null http://purl.obolibrary.org/obo/MONDO_0014527 node Orphanet_219 Autosomal recessive limb-girdle muscular dystrophy type 2F null http://www.orpha.net/ORDO/Orphanet_219 node UBERON_0000947 aorta null http://purl.obolibrary.org/obo/UBERON_0000947 node Orphanet_93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis null http://www.orpha.net/ORDO/Orphanet_93279 node Orphanet_99961 Benign recurrent intrahepatic cholestasis type 2 null http://www.orpha.net/ORDO/Orphanet_99961 node Orphanet_2328 Kapur-Toriello syndrome null http://www.orpha.net/ORDO/Orphanet_2328 node MONDO_0000412 neonatal period electroclinical syndrome Editor notes: See https://github.com/monarch-initiative/mondo-build/issues/29 http://purl.obolibrary.org/obo/MONDO_0000412 node UBERON_0001844 cochlea null http://purl.obolibrary.org/obo/UBERON_0001844 node MONDO_0001208 acute respiratory failure null http://purl.obolibrary.org/obo/MONDO_0001208 node Orphanet_306498 PTEN hamartoma tumor syndrome null http://www.orpha.net/ORDO/Orphanet_306498 node EFO_0008880 RAP null http://www.ebi.ac.uk/efo/EFO_0008880 node EFO_1000143 Breast Carcinoma by Gene Expression Profile null http://www.ebi.ac.uk/efo/EFO_1000143 node CHEBI_33871 glycerate null http://purl.obolibrary.org/obo/CHEBI_33871 node CHEBI_8887 rofecoxib null http://purl.obolibrary.org/obo/CHEBI_8887 node Orphanet_99094 Laubry-Pezzi syndrome null http://www.orpha.net/ORDO/Orphanet_99094 node EFO_0003646 obsolete_corpuscles of Stannius null http://www.ebi.ac.uk/efo/EFO_0003646 node Orphanet_2802 X-linked sideroblastic anemia with ataxia null http://www.orpha.net/ORDO/Orphanet_2802 node NCBITaxon_477955 Symplocarpus renifolius null http://purl.obolibrary.org/obo/NCBITaxon_477955 node NCBITaxon_43335 Populus alba null http://purl.obolibrary.org/obo/NCBITaxon_43335 node Orphanet_102009 Classic lissencephaly null http://www.orpha.net/ORDO/Orphanet_102009 node EFO_1000437 Ovarian Yolk Sac Tumor null http://www.ebi.ac.uk/efo/EFO_1000437 node MONDO_0003837 TSH producing pituitary tumor null http://purl.obolibrary.org/obo/MONDO_0003837 node EFO_0004386 total particulate matter per liter null http://www.ebi.ac.uk/efo/EFO_0004386 node EFO_0003459 obsolete_vagal placode 4 null http://www.ebi.ac.uk/efo/EFO_0003459 node EFO_0003388 obsolete_embryonic maxillary sensory complex null http://www.ebi.ac.uk/efo/EFO_0003388 node Orphanet_2416 obsolete_Congenital primary lymphedema null http://www.orpha.net/ORDO/Orphanet_2416 node Orphanet_276249 Xeroderma pigmentosum complementation group A null http://www.orpha.net/ORDO/Orphanet_276249 node UO_0000116 lux null http://purl.obolibrary.org/obo/UO_0000116 node Orphanet_319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency null http://www.orpha.net/ORDO/Orphanet_319612 node NCBITaxon_7653 Lytechinus pictus null http://purl.obolibrary.org/obo/NCBITaxon_7653 node Orphanet_528 Berardinelli-Seip congenital lipodystrophy null http://www.orpha.net/ORDO/Orphanet_528 node Orphanet_31 Oxoglutaricaciduria null http://www.orpha.net/ORDO/Orphanet_31 node EFO_0009559 nerve plexus disease null http://www.ebi.ac.uk/efo/EFO_0009559 node EFO_1000044 pancreatic adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000044 node EFO_0009601 testicular disease null http://www.ebi.ac.uk/efo/EFO_0009601 node EFO_0003547 obsolete_quadrate null http://www.ebi.ac.uk/efo/EFO_0003547 node HP_0003011 Abnormality of the musculature null http://purl.obolibrary.org/obo/HP_0003011 node CLO_0031254 GM14454 null http://purl.obolibrary.org/obo/CLO_0031254 node EFO_0008120 endothelial cell-selective adhesion molecule measurement null http://www.ebi.ac.uk/efo/EFO_0008120 node Orphanet_404574 Genetic syndrome with limb reduction defects null http://www.orpha.net/ORDO/Orphanet_404574 node EFO_0007018 egg allergy measurement null http://www.ebi.ac.uk/efo/EFO_0007018 node PO_0007116 LP.11 eleven leaves visible stage null http://purl.obolibrary.org/obo/PO_0007116 node Orphanet_1590 Distal monosomy 13q null http://www.orpha.net/ORDO/Orphanet_1590 node EFO_1001850 stomach diverticulum null http://www.ebi.ac.uk/efo/EFO_1001850 node EFO_0002110 AN3CA null http://www.ebi.ac.uk/efo/EFO_0002110 node CHEBI_16688 ecdysone null http://purl.obolibrary.org/obo/CHEBI_16688 node CHEBI_53461 neuropeptide S null http://purl.obolibrary.org/obo/CHEBI_53461 node MONDO_0016255 uterine corpus mixed epithelial and mesenchymal neoplasm Editor note: Consider placing Orphanet equiv with subclass (malignant form) http://purl.obolibrary.org/obo/MONDO_0016255 node Orphanet_294947 Congenital deformities of fingers null http://www.orpha.net/ORDO/Orphanet_294947 node EFO_0009647 epilepsy, hearing loss, and mental retardation syndrome null http://www.ebi.ac.uk/efo/EFO_0009647 node EFO_0010291 cerebellum cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010291 node EFO_0002607 obsolete_experiment null http://www.ebi.ac.uk/efo/EFO_0002607 node NCBITaxon_68892 Streptococcus infantis null http://purl.obolibrary.org/obo/NCBITaxon_68892 node Orphanet_295073 Ulnar hemimelia, bilateral null http://www.orpha.net/ORDO/Orphanet_295073 node EFO_0004960 Clark level IV null http://www.ebi.ac.uk/efo/EFO_0004960 node CHEBI_28654 3-methyl-2-oxovalerate null http://purl.obolibrary.org/obo/CHEBI_28654 node EFO_1001785 diffuse esophageal spasm null http://www.ebi.ac.uk/efo/EFO_1001785 node MONDO_0021057 classic or attenuated familial adenomatous polyposis null http://purl.obolibrary.org/obo/MONDO_0021057 node EFO_0002214 JVM3 null http://www.ebi.ac.uk/efo/EFO_0002214 node Orphanet_2983 Disorder of sex development - intellectual disability null http://www.orpha.net/ORDO/Orphanet_2983 node Orphanet_261112 Monosomy 9p null http://www.orpha.net/ORDO/Orphanet_261112 node EFO_0000727 treatment null http://www.ebi.ac.uk/efo/EFO_0000727 node HP_0005208 Secretory diarrhea null http://purl.obolibrary.org/obo/HP_0005208 node Orphanet_2796 Pachydermoperiostosis null http://www.orpha.net/ORDO/Orphanet_2796 node UBERON_0005170 granulosa cell layer null http://purl.obolibrary.org/obo/UBERON_0005170 node CHEBI_16383 cis-aconitate(3-) null http://purl.obolibrary.org/obo/CHEBI_16383 node BFO_0000029 site null http://purl.obolibrary.org/obo/BFO_0000029 node EFO_0006811 linolenic acid measurement null http://www.ebi.ac.uk/efo/EFO_0006811 node Orphanet_324708 Hereditary cerebral hemorrhage with amyloidosis, Iowa type null http://www.orpha.net/ORDO/Orphanet_324708 node Orphanet_221126 Fowler syndrome null http://www.orpha.net/ORDO/Orphanet_221126 node Orphanet_100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A null http://www.orpha.net/ORDO/Orphanet_100043 node EFO_0002302 NCI-H720 null http://www.ebi.ac.uk/efo/EFO_0002302 node EFO_0000334 obsolete_chordoma null http://www.ebi.ac.uk/efo/EFO_0000334 node EFO_0000815 obsolete_heart null http://www.ebi.ac.uk/efo/EFO_0000815 node NCBITaxon_55096 Ippy virus null http://purl.obolibrary.org/obo/NCBITaxon_55096 node MONDO_0000923 interstitial emphysema null http://purl.obolibrary.org/obo/MONDO_0000923 node GO_0009987 cellular process null http://purl.obolibrary.org/obo/GO_0009987 node Orphanet_2884 Piebaldism null http://www.orpha.net/ORDO/Orphanet_2884 node EFO_1001319 Euglenozoa Infections null http://www.ebi.ac.uk/efo/EFO_1001319 node EFO_0007187 bullous pemphigoid null http://www.ebi.ac.uk/efo/EFO_0007187 node MONDO_0002989 benign fibrous histiocytoma null http://purl.obolibrary.org/obo/MONDO_0002989 node Orphanet_1275 Brachydactyly - elbow wrist dysplasia null http://www.orpha.net/ORDO/Orphanet_1275 node Orphanet_85128 Bothnia retinal dystrophy null http://www.orpha.net/ORDO/Orphanet_85128 node EFO_0000217 gastritis null http://www.ebi.ac.uk/efo/EFO_0000217 node EFO_1002030 chronic rhinosinusitis without nasal polyps PMID:29253858 http://www.ebi.ac.uk/efo/EFO_1002030 node EFO_0010843 HG02610 null http://www.ebi.ac.uk/efo/EFO_0010843 node MONDO_0002805 hidradenoma null http://purl.obolibrary.org/obo/MONDO_0002805 node MONDO_0022409 nephropathy-associated ciliopathy null http://purl.obolibrary.org/obo/MONDO_0022409 node CHEBI_116314 oleamide null http://purl.obolibrary.org/obo/CHEBI_116314 node MONDO_0011504 NDE1-related microhydranencephaly null http://purl.obolibrary.org/obo/MONDO_0011504 node EFO_0007275 focal epithelial hyperplasia null http://www.ebi.ac.uk/efo/EFO_0007275 node MONDO_0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies null http://purl.obolibrary.org/obo/MONDO_0060502 node Orphanet_250972 Polymicrogyria with optic nerve hypoplasia null http://www.orpha.net/ORDO/Orphanet_250972 node MONDO_0017341 virus associated tumor null http://purl.obolibrary.org/obo/MONDO_0017341 node Orphanet_394 Classical homocystinuria null http://www.orpha.net/ORDO/Orphanet_394 node CHEBI_85877 triacylglycerol 56:10 null http://purl.obolibrary.org/obo/CHEBI_85877 node HP_0011904 Persistence of hemoglobin F null http://purl.obolibrary.org/obo/HP_0011904 node NCBITaxon_40199 Fusarium avenaceum Entry Merged. Taxid 502741 was merged into taxid 40199 on January 8, 2013. http://purl.obolibrary.org/obo/NCBITaxon_40199 node EFO_0000305 breast carcinoma null http://www.ebi.ac.uk/efo/EFO_0000305 node HANCESTRO_0004 ancestry category null http://purl.obolibrary.org/obo/HANCESTRO_0004 node Orphanet_2298 Insulin-resistance syndrome type B null http://www.orpha.net/ORDO/Orphanet_2298 node EFO_0009748 response to ketamine null http://www.ebi.ac.uk/efo/EFO_0009748 node EFO_0005416 serum ST2 measurement null http://www.ebi.ac.uk/efo/EFO_0005416 node Orphanet_2340 Keratosis follicularis spinulosa decalvans null http://www.orpha.net/ORDO/Orphanet_2340 node HP_0011037 Decreased urine output A reduction in the overall amount of urine output. http://purl.obolibrary.org/obo/HP_0011037 node MONDO_0008666 volvulus of midgut null http://purl.obolibrary.org/obo/MONDO_0008666 node EFO_0008085 Ck-beta-8-1 measurement null http://www.ebi.ac.uk/efo/EFO_0008085 node Orphanet_65286 3q29 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_65286 node MONDO_0019787 autoimmune enteropathy null http://purl.obolibrary.org/obo/MONDO_0019787 node HP_0001959 Polydipsia null http://purl.obolibrary.org/obo/HP_0001959 node Orphanet_277 Severe combined immunodeficiency due to adenosine deaminase deficiency null http://www.orpha.net/ORDO/Orphanet_277 node Orphanet_261229 14q11.2 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_261229 node EFO_0008483 response to trauma exposure null http://www.ebi.ac.uk/efo/EFO_0008483 node EFO_0002660 primary cell null http://www.ebi.ac.uk/efo/EFO_0002660 node Orphanet_59303 Ichthyosis - hypotrichosis - sclerosing cholangitis null http://www.orpha.net/ORDO/Orphanet_59303 node EFO_1000959 heart aneurysm null http://www.ebi.ac.uk/efo/EFO_1000959 node Orphanet_2386 Leukoencephalopathy-palmoplantar keratoderma syndrome null http://www.orpha.net/ORDO/Orphanet_2386 node EFO_0005023 adipose tissue derived mesenchymal stem cell null http://www.ebi.ac.uk/efo/EFO_0005023 node NCBITaxon_107243 Noccaea caerulescens null http://purl.obolibrary.org/obo/NCBITaxon_107243 node EFO_0009836 bronchoconstriction null http://www.ebi.ac.uk/efo/EFO_0009836 node UBERON_0009616 presumptive midbrain null http://purl.obolibrary.org/obo/UBERON_0009616 node EFO_0007423 parotitis null http://www.ebi.ac.uk/efo/EFO_0007423 node EFO_0002296 NCI-H524 null http://www.ebi.ac.uk/efo/EFO_0002296 node CHEBI_25682 N(omega),N'(omega)-dimethyl-L-arginine null http://purl.obolibrary.org/obo/CHEBI_25682 node EFO_0001369 vertebral column structure null http://www.ebi.ac.uk/efo/EFO_0001369 node EFO_0002881 YCC6 null http://www.ebi.ac.uk/efo/EFO_0002881 node CHEBI_64134 2-\{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino\}tetralin-7-ol maleate null http://purl.obolibrary.org/obo/CHEBI_64134 node Orphanet_99171 Isolated congenital ectropion null http://www.orpha.net/ORDO/Orphanet_99171 node MONDO_0014944 short stature-brachydactyly-obesity-global developmental delay syndrome null http://purl.obolibrary.org/obo/MONDO_0014944 node Orphanet_254851 Maternally-inherited mitochondrial dystonia null http://www.orpha.net/ORDO/Orphanet_254851 node MONDO_0013850 obsolete periodic fever, menstrual cycle-dependent This term was a duplicate. http://purl.obolibrary.org/obo/MONDO_0013850 node Orphanet_209193 Qualitative or quantitative defects of selenoprotein N1 null http://www.orpha.net/ORDO/Orphanet_209193 node EFO_0008571 viral conjunctivitis null http://www.ebi.ac.uk/efo/EFO_0008571 node NCBITaxon_7461 Apis cerana null http://purl.obolibrary.org/obo/NCBITaxon_7461 node EFO_0009367 glucose metabolism measurement null http://www.ebi.ac.uk/efo/EFO_0009367 node FBbt_00005551 sensory nervous system primordium null http://purl.obolibrary.org/obo/FBbt_00005551 node MONDO_0020836 autism, susceptiblity to null http://purl.obolibrary.org/obo/MONDO_0020836 node EFO_0007469 Rhabdoviridae infectious disease null http://www.ebi.ac.uk/efo/EFO_0007469 node NCBITaxon_190802 Cleome gynandra null http://purl.obolibrary.org/obo/NCBITaxon_190802 node Orphanet_289863 Atypical glycine encephalopathy null http://www.orpha.net/ORDO/Orphanet_289863 node EFO_1001787 experimental arthritis null http://www.ebi.ac.uk/efo/EFO_1001787 node EFO_1001097 periarthritis null http://www.ebi.ac.uk/efo/EFO_1001097 node EFO_0003811 refractory anemia with excess blasts null http://www.ebi.ac.uk/efo/EFO_0003811 node EFO_0002782 glioblastoma H54 null http://www.ebi.ac.uk/efo/EFO_0002782 node UBERON_0001230 glomerular capsule null http://purl.obolibrary.org/obo/UBERON_0001230 node Orphanet_96185 Maternal uniparental disomy of chromosome 16 null http://www.orpha.net/ORDO/Orphanet_96185 node EFO_0004189 DNA shearing null http://www.ebi.ac.uk/efo/EFO_0004189 node MONDO_0008210 patterned macular dystrophy 1 null http://purl.obolibrary.org/obo/MONDO_0008210 node EFO_0000299 obsolete_bone MMHCC Obsolete: No longer required in EFO http://www.ebi.ac.uk/efo/EFO_0000299 node NCBITaxon_2096 Mycoplasma gallisepticum null http://purl.obolibrary.org/obo/NCBITaxon_2096 node CLO_0013176 GM17269 null http://purl.obolibrary.org/obo/CLO_0013176 node EFO_0000884 invertebrate limb null http://www.ebi.ac.uk/efo/EFO_0000884 node Orphanet_363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome null http://www.orpha.net/ORDO/Orphanet_363409 node Orphanet_1786 Acrofacial dysostosis, Catania type null http://www.orpha.net/ORDO/Orphanet_1786 node EFO_0009056 Spinocerebellar ataxia type 38 null http://www.ebi.ac.uk/efo/EFO_0009056 node EFO_0000697 obsolete_sickle cell disease null http://www.ebi.ac.uk/efo/EFO_0000697 node Orphanet_171839 Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis null http://www.orpha.net/ORDO/Orphanet_171839 node EFO_1001388 Pelvic Inflammatory Disease null http://www.ebi.ac.uk/efo/EFO_1001388 node Orphanet_99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E null http://www.orpha.net/ORDO/Orphanet_99939 node CHEBI_17394 N(5)-ethyl-L-glutamine null http://purl.obolibrary.org/obo/CHEBI_17394 node EFO_0005938 congenital left-sided heart lesions null http://www.ebi.ac.uk/efo/EFO_0005938 node Orphanet_228423 Monocytopenia with susceptibility to infections null http://www.orpha.net/ORDO/Orphanet_228423 node EFO_0001051 obsolete_carpel null http://www.ebi.ac.uk/efo/EFO_0001051 node EFO_0005192 red blood cell distribution width null http://www.ebi.ac.uk/efo/EFO_0005192 node CL_0000888 lymph node tingible body macrophage null http://purl.obolibrary.org/obo/CL_0000888 node Orphanet_1393 Cerebro-costo-mandibular syndrome null http://www.orpha.net/ORDO/Orphanet_1393 node Orphanet_99723 Familial esophageal achalasia null http://www.orpha.net/ORDO/Orphanet_99723 node EFO_0009144 Lethal neonatal spasticity-epileptic encephalopathy syndrome null http://www.ebi.ac.uk/efo/EFO_0009144 node MONDO_0004435 liver fibrosarcoma null http://purl.obolibrary.org/obo/MONDO_0004435 node EFO_0004979 comprehensive strength index null http://www.ebi.ac.uk/efo/EFO_0004979 node PO_0001002 fruit development stage Defined by characteristic morphological, structural, histological or other visible features of a fruit. Includes as subclasses fruit formation stage (PO:0025501) and fruit ripening stage (PO:0025502). May have as part a seed development stage (PO:0001170). This stage applies to an individual fruit. For development stages of a whole plant (PO:0000003) based on fruit development, use whole plant fruit development stage (PO:0025500) or its subclasses. http://purl.obolibrary.org/obo/PO_0001002 node EFO_1001289 Cholecystitis, Acute null http://www.ebi.ac.uk/efo/EFO_1001289 node HP_0007210 Lower limb amyotrophy null http://purl.obolibrary.org/obo/HP_0007210 node HP_0002659 Increased susceptibility to fractures This is a bundled term that will be made obsolete. http://purl.obolibrary.org/obo/HP_0002659 node EFO_0003337 obsolete_head mesoderm null http://www.ebi.ac.uk/efo/EFO_0003337 node EFO_0005280 sleep latency null http://www.ebi.ac.uk/efo/EFO_0005280 node EFO_0006891 breast adenosis null http://www.ebi.ac.uk/efo/EFO_0006891 node CL_0000976 IgA short lived plasma cell null http://purl.obolibrary.org/obo/CL_0000976 node MONDO_0000627 benign endocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0000627 node MONDO_0018751 genetic otorhinolaryngologic disease null http://purl.obolibrary.org/obo/MONDO_0018751 node Orphanet_3105 Robinow-like syndrome null http://www.orpha.net/ORDO/Orphanet_3105 node Orphanet_166113 Bazex syndrome null http://www.orpha.net/ORDO/Orphanet_166113 node Orphanet_100990 Autosomal dominant spastic paraplegia type 9 null http://www.orpha.net/ORDO/Orphanet_100990 node EFO_0006502 mammographic density percentage null http://www.ebi.ac.uk/efo/EFO_0006502 node Orphanet_1131 X-linked mandibulofacial dysostosis null http://www.orpha.net/ORDO/Orphanet_1131 node MONDO_0018365 malignant non-epithelial tumor of ovary Editor note: consider axiomatizing. This includes sex-cord and germ cell. Note some GCTs have names suggesting epithelial original such as embryonal/choriocarcinoma http://purl.obolibrary.org/obo/MONDO_0018365 node HP_0012447 Abnormal myelination null http://purl.obolibrary.org/obo/HP_0012447 node CHEBI_15882 phenol null http://purl.obolibrary.org/obo/CHEBI_15882 node Orphanet_2271 Congenital ichthyosis - microcephalus - tetraplegia null http://www.orpha.net/ORDO/Orphanet_2271 node EFO_0000025 CS57591 null http://www.ebi.ac.uk/efo/EFO_0000025 node EFO_0010446 2-hydroxyglutaric acid measurement null http://www.ebi.ac.uk/efo/EFO_0010446 node CHEBI_70857 O-3-methylglutarylcarnitine null http://purl.obolibrary.org/obo/CHEBI_70857 node EFO_0007757 persistent Staphylococcus aureus carrier status null http://www.ebi.ac.uk/efo/EFO_0007757 node CL_0000583 alveolar macrophage Markers: Mouse: F4/80mid, CD11b-/low, CD11c+, CD68+, sialoadhesin+, dectin-1+, MR+, CX3CR1-. http://purl.obolibrary.org/obo/CL_0000583 node EFO_0005136 cultivar null http://www.ebi.ac.uk/efo/EFO_0005136 node HP_0011010 Chronic According to the U.S. National Center for Health Statistics, a chronic condition is one lasting 3 months or more. http://purl.obolibrary.org/obo/HP_0011010 node Orphanet_93321 Radial hemimelia null http://www.orpha.net/ORDO/Orphanet_93321 node Orphanet_2575 Cystic fibrosis - gastritis - megaloblastic anemia null http://www.orpha.net/ORDO/Orphanet_2575 node MONDO_0045023 acquired adrenogenital syndrome null http://purl.obolibrary.org/obo/MONDO_0045023 node Orphanet_98889 Bilateral perisylvian polymicrogyria null http://www.orpha.net/ORDO/Orphanet_98889 node CHEBI_28462 ajmaline null http://purl.obolibrary.org/obo/CHEBI_28462 node EFO_0010240 dehydroepiandrosterone measurement null http://www.ebi.ac.uk/efo/EFO_0010240 node HP_0200148 Abnormal liver function tests during pregnancy null http://purl.obolibrary.org/obo/HP_0200148 node MONDO_0011584 Fanconi anemia complementation group D1 null http://purl.obolibrary.org/obo/MONDO_0011584 node NCBITaxon_199200 Pseudomonas syringae pv. japonica null http://purl.obolibrary.org/obo/NCBITaxon_199200 node MONDO_0000316 opportunistic bacterial infectious disease null http://purl.obolibrary.org/obo/MONDO_0000316 node MONDO_0060582 auditory neuropathy-optic atrophy syndrome null http://purl.obolibrary.org/obo/MONDO_0060582 node EFO_0000113 CS57776 null http://www.ebi.ac.uk/efo/EFO_0000113 node CL_0002364 cortical thymic epithelial cell null http://purl.obolibrary.org/obo/CL_0002364 node EFO_0010534 suberic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010534 node CHEBI_15793 3-hydroxyanthranilic acid null http://purl.obolibrary.org/obo/CHEBI_15793 node MONDO_0001056 gastric cancer null http://purl.obolibrary.org/obo/MONDO_0001056 node EFO_0005224 Q fever null http://www.ebi.ac.uk/efo/EFO_0005224 node UBERON_0005519 rhombomere 6 null http://purl.obolibrary.org/obo/UBERON_0005519 node CLO_0016641 GM17774 null http://purl.obolibrary.org/obo/CLO_0016641 node EFO_0007658 carrier status null http://www.ebi.ac.uk/efo/EFO_0007658 node Orphanet_98977 Juvenile glaucoma null http://www.orpha.net/ORDO/Orphanet_98977 node Orphanet_775 X-linked intellectual disability, Martinez type null http://www.orpha.net/ORDO/Orphanet_775 node EFO_0001750 organism part comparison design null http://www.ebi.ac.uk/efo/EFO_0001750 node MONDO_0003890 infiltrating bladder urothelial carcinoma null http://purl.obolibrary.org/obo/MONDO_0003890 node MONDO_0017032 primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder null http://purl.obolibrary.org/obo/MONDO_0017032 node MONDO_0016105 acquired skeletal muscle disease null http://purl.obolibrary.org/obo/MONDO_0016105 node Orphanet_399813 Male infertility due to sperm motility disorder null http://www.orpha.net/ORDO/Orphanet_399813 node EFO_0007879 petaloid toenail null http://www.ebi.ac.uk/efo/EFO_0007879 node EFO_0010622 kallikrein‐6 measurement null http://www.ebi.ac.uk/efo/EFO_0010622 node EFO_0010141 sexual behavior null http://www.ebi.ac.uk/efo/EFO_0010141 node CHEBI_30031 succinate(2-) null http://purl.obolibrary.org/obo/CHEBI_30031 node EFO_0007440 placenta accreta null http://www.ebi.ac.uk/efo/EFO_0007440 node EFO_0007189 Caliciviridae infectious disease null http://www.ebi.ac.uk/efo/EFO_0007189 node CHEBI_42027 1,2-di-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_42027 node CHEBI_17327 phytol null http://purl.obolibrary.org/obo/CHEBI_17327 node Orphanet_2745 Opitz G/BBB syndrome null http://www.orpha.net/ORDO/Orphanet_2745 node Orphanet_391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome null http://www.orpha.net/ORDO/Orphanet_391372 node HP_0005484 Postnatal microcephaly null http://purl.obolibrary.org/obo/HP_0005484 node Orphanet_35698 Mitochondrial DNA depletion syndrome null http://www.orpha.net/ORDO/Orphanet_35698 node NCBITaxon_4787 Phytophthora infestans null http://purl.obolibrary.org/obo/NCBITaxon_4787 node MONDO_0021229 ciliary body neoplasm null http://purl.obolibrary.org/obo/MONDO_0021229 node EFO_0005107 obsolete_collective leaf structure null http://www.ebi.ac.uk/efo/EFO_0005107 node CLO_0016524 GM17840 null http://purl.obolibrary.org/obo/CLO_0016524 node Orphanet_93957 Limb dystonia null http://www.orpha.net/ORDO/Orphanet_93957 node CHEBI_82982 glycodeoxycholate null http://purl.obolibrary.org/obo/CHEBI_82982 node NCBITaxon_59919 Prochlorococcus marinus subsp. pastoris str. CCMP1986 null http://purl.obolibrary.org/obo/NCBITaxon_59919 node EFO_1000169 Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant null http://www.ebi.ac.uk/efo/EFO_1000169 node EFO_0007277 foot and mouth disease null http://www.ebi.ac.uk/efo/EFO_0007277 node Orphanet_2833 Stiff skin syndrome null http://www.orpha.net/ORDO/Orphanet_2833 node EFO_0008119 endoplasmic reticulum aminopeptidase 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008119 node EFO_0006325 response to serotonin-norephinephrine reuptake inhibitor null http://www.ebi.ac.uk/efo/EFO_0006325 node MONDO_0009948 pyropoikilocytosis, hereditary null http://purl.obolibrary.org/obo/MONDO_0009948 node NCBITaxon_89184 Ruegeria pomeroyi null http://purl.obolibrary.org/obo/NCBITaxon_89184 node Orphanet_98571 Secondary ectropion null http://www.orpha.net/ORDO/Orphanet_98571 node Orphanet_309447 Disorder of protein O-glycosylation null http://www.orpha.net/ORDO/Orphanet_309447 node EFO_0009925 Antithrombotic agent use measurement null http://www.ebi.ac.uk/efo/EFO_0009925 node EFO_0001721 femtometer null http://www.ebi.ac.uk/efo/EFO_0001721 node GO_0014069 postsynaptic density null http://purl.obolibrary.org/obo/GO_0014069 node EFO_1001361 localised scleroderma null http://www.ebi.ac.uk/efo/EFO_1001361 node EFO_1001842 Serotonin Syndrome null http://www.ebi.ac.uk/efo/EFO_1001842 node EFO_0004864 renal sinus adipose tissue measurement null http://www.ebi.ac.uk/efo/EFO_0004864 node EFO_1000257 Fibrous Hamartoma of Infancy null http://www.ebi.ac.uk/efo/EFO_1000257 node CHEBI_23359 colchicine null http://purl.obolibrary.org/obo/CHEBI_23359 node EFO_0000974 obsolete_oviduct null http://www.ebi.ac.uk/efo/EFO_0000974 node EFO_1000738 necrobiosis lipoidica null http://www.ebi.ac.uk/efo/EFO_1000738 node Orphanet_94095 Spondylocostal dysostosis - anal and genitourinary malformations null http://www.orpha.net/ORDO/Orphanet_94095 node EFO_0008207 leucine carboxyl methyltransferase 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008207 node EFO_0001966 obsolete_ligament null http://www.ebi.ac.uk/efo/EFO_0001966 node EFO_0006413 obsolete_H322T null http://www.ebi.ac.uk/efo/EFO_0006413 node Orphanet_99045 Double outlet right ventricle with subpulmonary ventricular septal defect null http://www.orpha.net/ORDO/Orphanet_99045 node Orphanet_171851 MEDNIK syndrome null http://www.orpha.net/ORDO/Orphanet_171851 node EFO_0009532 autonomic nervous system disease Editor note: We follow uberon and treat ANS as part of PNS. TODO - curate subtypes from http://neuromuscular.wustl.edu/autonomic.html http://www.ebi.ac.uk/efo/EFO_0009532 node Orphanet_79431 Oculocutaneous albinism type 1A null http://www.orpha.net/ORDO/Orphanet_79431 node Orphanet_35706 Glutaric acidemia type 3 null http://www.orpha.net/ORDO/Orphanet_35706 node CL_0002049 Fraction C precursor B cell null http://purl.obolibrary.org/obo/CL_0002049 node MONDO_0054699 proteasome-associated autoinflammatory syndrome 3 null http://purl.obolibrary.org/obo/MONDO_0054699 node NCBITaxon_266264 Cupriavidus metallidurans CH34 null http://purl.obolibrary.org/obo/NCBITaxon_266264 node Orphanet_363654 X-linked parkinsonism-spasticity syndrome null http://www.orpha.net/ORDO/Orphanet_363654 node UBERON_2001316 anterior lateral line placode null http://purl.obolibrary.org/obo/UBERON_2001316 node EFO_0004952 disease recurrence null http://www.ebi.ac.uk/efo/EFO_0004952 node EFO_1000345 Major Salivary Gland Carcinoma ex Pleomorphic Adenoma null http://www.ebi.ac.uk/efo/EFO_1000345 node EFO_1001262 Alternariosis null http://www.ebi.ac.uk/efo/EFO_1001262 node EFO_0000195 metabolic syndrome null http://www.ebi.ac.uk/efo/EFO_0000195 node EFO_0002206 obsolete_HepG2 null http://www.ebi.ac.uk/efo/EFO_0002206 node CHEBI_28867 O-propanoylcarnitine null http://purl.obolibrary.org/obo/CHEBI_28867 node EFO_0009620 rib fracture null http://www.ebi.ac.uk/efo/EFO_0009620 node PO_0000046 seminal root null http://purl.obolibrary.org/obo/PO_0000046 node HP_0003429 CNS hypomyelination null http://purl.obolibrary.org/obo/HP_0003429 node EFO_0002427 myeloid neoplasm null http://www.ebi.ac.uk/efo/EFO_0002427 node Orphanet_1951 Epilepsy telangiectasia null http://www.orpha.net/ORDO/Orphanet_1951 node GO_0036273 response to statin null http://purl.obolibrary.org/obo/GO_0036273 node EFO_0002908 motility assay null http://www.ebi.ac.uk/efo/EFO_0002908 node HP_0002034 Abnormal rectum morphology null http://purl.obolibrary.org/obo/HP_0002034 node EFO_0009221 Hemoglobin Lepore to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009221 node CHEBI_36006 icosapentaenoic acid null http://purl.obolibrary.org/obo/CHEBI_36006 node HP_0002515 Waddling gait null http://purl.obolibrary.org/obo/HP_0002515 node MONDO_0033541 immunodeficiency 69 null http://purl.obolibrary.org/obo/MONDO_0033541 node CHEBI_48358 polar aprotic solvent role null http://purl.obolibrary.org/obo/CHEBI_48358 node UBERON_0005383 caudate-putamen null http://purl.obolibrary.org/obo/UBERON_0005383 node Orphanet_3124 Saccharopinuria null http://www.orpha.net/ORDO/Orphanet_3124 node UBERON_0003504 respiratory system blood vessel null http://purl.obolibrary.org/obo/UBERON_0003504 node Orphanet_1084 Isolated lissencephaly type 1 without known genetic defects null http://www.orpha.net/ORDO/Orphanet_1084 node EFO_0002107 A7 null http://www.ebi.ac.uk/efo/EFO_0002107 node NCBITaxon_1358 Lactococcus lactis null http://purl.obolibrary.org/obo/NCBITaxon_1358 node Orphanet_295181 Postaxial polydactyly of toes, bilateral null http://www.orpha.net/ORDO/Orphanet_295181 node EO_0001054 limited nitrate regimen null http://purl.obolibrary.org/obo/EO_0001054 node UBERON_0002298 brainstem 'brainstem' is a loose term that sometimes refers to the ventral parts o the brain except for any part of the telencephalon - sometimes it includes the diencephalon or subpallial telencephalon structures (ISBN:0471888893). Here we use it in a more restriced sense, to include only the medulla oblongata, pons (when present) and the midbrain tegmentum (following the ZFA definitions). http://purl.obolibrary.org/obo/UBERON_0002298 node EFO_0002515 obsolete_ductus arteriosus null http://www.ebi.ac.uk/efo/EFO_0002515 node EFO_1000410 Osteoblastoma null http://www.ebi.ac.uk/efo/EFO_1000410 node EFO_0007990 neutrophil percentage of leukocytes null http://www.ebi.ac.uk/efo/EFO_0007990 node EFO_0008786 LM-Seq null http://www.ebi.ac.uk/efo/EFO_0008786 node UBERON_0005284 null null http://purl.obolibrary.org/obo/UBERON_0005284 node EFO_0006992 response to biological dust exposure null http://www.ebi.ac.uk/efo/EFO_0006992 node Orphanet_307148 Isolated diffuse palmoplantar keratoderma null http://www.orpha.net/ORDO/Orphanet_307148 node EFO_0003520 obsolete_medial octavolateralis nucleus null http://www.ebi.ac.uk/efo/EFO_0003520 node UBERON_0001706 nasal septum null http://purl.obolibrary.org/obo/UBERON_0001706 node MONDO_0018530 rare epithelial tumor of liver and intrahepatic biliary tract null http://purl.obolibrary.org/obo/MONDO_0018530 node EFO_0008874 PTB-Seq null http://www.ebi.ac.uk/efo/EFO_0008874 node Orphanet_217407 Hereditary hypotrichosis with recurrent skin vesicles null http://www.orpha.net/ORDO/Orphanet_217407 node EFO_0008687 ChIRP null http://www.ebi.ac.uk/efo/EFO_0008687 node EFO_0006893 proliferative inflammatory atrophy null http://www.ebi.ac.uk/efo/EFO_0006893 node MONDO_0019274 other epidermal disorder Editor note: consider merging http://purl.obolibrary.org/obo/MONDO_0019274 node CHEBI_42549 3-(5-fluorouracil-1-yl)-L-alanine null http://purl.obolibrary.org/obo/CHEBI_42549 node EFO_0010939 oligonucleotide DNA microarray null http://www.ebi.ac.uk/efo/EFO_0010939 node CL_0000837 hematopoietic multipotent progenitor cell Markers differ between mouse and human. http://purl.obolibrary.org/obo/CL_0000837 node GO_0031090 organelle membrane null http://purl.obolibrary.org/obo/GO_0031090 node EFO_0005629 small bowel Crohn's disease null http://www.ebi.ac.uk/efo/EFO_0005629 node HP_0012167 Hair-pulling null http://purl.obolibrary.org/obo/HP_0012167 node Orphanet_79146 Familial progressive hyperpigmentation null http://www.orpha.net/ORDO/Orphanet_79146 node Orphanet_63273 Distal myopathy with posterior leg and anterior hand involvement null http://www.orpha.net/ORDO/Orphanet_63273 node HP_0003394 Muscle spasm null http://purl.obolibrary.org/obo/HP_0003394 node MONDO_0002360 chondroma null http://purl.obolibrary.org/obo/MONDO_0002360 node EFO_0008298 thioredoxin domain-containing protein 12 measurement null http://www.ebi.ac.uk/efo/EFO_0008298 node EFO_0007934 creatinine clearance measurement null http://www.ebi.ac.uk/efo/EFO_0007934 node Orphanet_96123 Monosomy 22 null http://www.orpha.net/ORDO/Orphanet_96123 node CL_0000925 activated CD4-positive type I NK T cell null http://purl.obolibrary.org/obo/CL_0000925 node EFO_0002686 atopy Editor notes: this is a finding in NCIT http://www.ebi.ac.uk/efo/EFO_0002686 node EFO_0005717 retinoblastoma (nonhereditary) null http://www.ebi.ac.uk/efo/EFO_0005717 node GO_0043412 macromolecule modification null http://purl.obolibrary.org/obo/GO_0043412 node Orphanet_79234 Crigler-Najjar syndrome type 1 null http://www.orpha.net/ORDO/Orphanet_79234 node EFO_1002027 osteomalacia null http://www.ebi.ac.uk/efo/EFO_1002027 node HP_0012255 Dynein arm defect of respiratory motile cilia The peripheral microtubules in the canonical 9 + 2 microtubular pattern of motile cilia are studded with dynein arms that contain adenosine triphosphatases and act as molecular motors to effect the sliding of the peripheral microtubular pairs relative to one another. http://purl.obolibrary.org/obo/HP_0012255 node Orphanet_67046 3-methylglutaconic aciduria type 1 null http://www.orpha.net/ORDO/Orphanet_67046 node CL_0000738 leukocyte null http://purl.obolibrary.org/obo/CL_0000738 node HP_0003482 EMG: axonal abnormality This is a bundled term that is kept for convenience. It is preferable to record the precise clinical observations. http://purl.obolibrary.org/obo/HP_0003482 node HP_0000366 Abnormality of the nose null http://purl.obolibrary.org/obo/HP_0000366 node EFO_0007541 viral pneumonia null http://www.ebi.ac.uk/efo/EFO_0007541 node Orphanet_250 Frontonasal dysplasia null http://www.orpha.net/ORDO/Orphanet_250 node Orphanet_2170 Methylcobalamin deficiency type cblG null http://www.orpha.net/ORDO/Orphanet_2170 node CL_0002022 Ly-76 high positive erythrocyte Marker is associated with mouse cell types. http://purl.obolibrary.org/obo/CL_0002022 node EFO_0007354 obsolete_Lynch syndrome null http://www.ebi.ac.uk/efo/EFO_0007354 node EFO_0008199 Kunitz-type protease inhibitor 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008199 node HP_0008625 Severe sensorineural hearing impairment null http://purl.obolibrary.org/obo/HP_0008625 node MONDO_0002488 intraductal breast neoplasm null http://purl.obolibrary.org/obo/MONDO_0002488 node UBERON_0001637 artery null http://purl.obolibrary.org/obo/UBERON_0001637 node EFO_0002774 assay by mass spectrometry null http://www.ebi.ac.uk/efo/EFO_0002774 node MONDO_0100139 asymptomatic COVID-19 infection null http://purl.obolibrary.org/obo/MONDO_0100139 node Orphanet_2524 Pontocerebellar hypoplasia type 2 null http://www.orpha.net/ORDO/Orphanet_2524 node EFO_0007519 trench fever null http://www.ebi.ac.uk/efo/EFO_0007519 node EFO_0002597 obsolete_aorta endothelium null http://www.ebi.ac.uk/efo/EFO_0002597 node CHEBI_9168 rapamycin null http://purl.obolibrary.org/obo/CHEBI_9168 node Orphanet_2337 Non-epidermolytic palmoplantar keratoderma Editor note: in ORDO this is AD but this leads to inconsistencies http://www.orpha.net/ORDO/Orphanet_2337 node EFO_0009391 response to tamoxifen null http://www.ebi.ac.uk/efo/EFO_0009391 node MONDO_0003751 childhood germ cell tumor null http://purl.obolibrary.org/obo/MONDO_0003751 node HP_0000277 Abnormality of the mandible null http://purl.obolibrary.org/obo/HP_0000277 node EFO_1000815 aortic valve prolapse null http://www.ebi.ac.uk/efo/EFO_1000815 node EFO_0007442 placenta praevia null http://www.ebi.ac.uk/efo/EFO_0007442 node MONDO_0002647 laryngitis null http://purl.obolibrary.org/obo/MONDO_0002647 node CHEBI_84098 O-linoleyl-L-carnitine null http://purl.obolibrary.org/obo/CHEBI_84098 node MONDO_0002095 vascular cancer Editor note: see also NCIT:C7390 http://purl.obolibrary.org/obo/MONDO_0002095 node PO_0009005 root Roots function in the absorption of water and inorganic nutrients, anchoring the plant body to the ground, and supporting it, storage of food and nutrients, and vegetative reproduction. The roots of most vascular plant species enter into symbiosis with soil-borne microorganisms. Roots are usually found underground, although there are many exceptions, such as the aerial roots of orchids. Roots often form secondary thickening from the root lateral meristem (PO:0006308). Commonly thought of as one of the three basic parts of the plant body, along with the shoot axis (PO:0025029) and leaves (PO:0025034). http://purl.obolibrary.org/obo/PO_0009005 node Orphanet_140481 Autosomal dominant slowed nerve conduction velocity null http://www.orpha.net/ORDO/Orphanet_140481 node EFO_0004555 glycoprotein measurement null http://www.ebi.ac.uk/efo/EFO_0004555 node CL_0002126 CD25-positive, CD27-positive immature gamma-delta T cell null http://purl.obolibrary.org/obo/CL_0002126 node EFO_0007607 Lipowiec ecotype null http://www.ebi.ac.uk/efo/EFO_0007607 node MONDO_0012322 holoprosencephaly 5 null http://purl.obolibrary.org/obo/MONDO_0012322 node Orphanet_268366 Closed iniencephaly null http://www.orpha.net/ORDO/Orphanet_268366 node EFO_0007043 response to transplant null http://www.ebi.ac.uk/efo/EFO_0007043 node HP_0000337 Broad forehead Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead. http://purl.obolibrary.org/obo/HP_0000337 node CHEBI_27881 resveratrol null http://purl.obolibrary.org/obo/CHEBI_27881 node EFO_0008932 SMDB null http://www.ebi.ac.uk/efo/EFO_0008932 node NCBITaxon_7237 Drosophila pseudoobscura null http://purl.obolibrary.org/obo/NCBITaxon_7237 node GO_0006807 nitrogen compound metabolic process Note that amino acid and derivative metabolism should not be annotated here. Instead use the 'amino acid and derivative metabolism' node. http://purl.obolibrary.org/obo/GO_0006807 node HP_0010650 Hypoplasia of the premaxilla null http://purl.obolibrary.org/obo/HP_0010650 node EFO_0002878 YCC11 null http://www.ebi.ac.uk/efo/EFO_0002878 node EFO_1000903 drug-induced akathisia null http://www.ebi.ac.uk/efo/EFO_1000903 node EFO_0007828 daytime rest measurement null http://www.ebi.ac.uk/efo/EFO_0007828 node EFO_0002920 vulva sarcoma null http://www.ebi.ac.uk/efo/EFO_0002920 node EFO_1001140 pyelitis null http://www.ebi.ac.uk/efo/EFO_1001140 node Orphanet_466 Fatal familial insomnia null http://www.orpha.net/ORDO/Orphanet_466 node Orphanet_30391 Biliary atresia null http://www.orpha.net/ORDO/Orphanet_30391 node EFO_0004643 obsolete_coronory artery calcification null http://www.ebi.ac.uk/efo/EFO_0004643 node EFO_0000272 astrocytoma This class encompasses astrocytomas proper as well as GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 http://www.ebi.ac.uk/efo/EFO_0000272 node HP_0001605 Vocal cord paralysis Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties. http://purl.obolibrary.org/obo/HP_0001605 node Orphanet_168984 CLAPO syndrome null http://www.orpha.net/ORDO/Orphanet_168984 node NCBITaxon_13773 Pyrobaculum aerophilum null http://purl.obolibrary.org/obo/NCBITaxon_13773 node CHEBI_64552 2-hydroxybutyrate null http://purl.obolibrary.org/obo/CHEBI_64552 node EFO_0007131 acute hemorrhagic conjunctivitis null http://www.ebi.ac.uk/efo/EFO_0007131 node BTO_0002599 RBA-2 cell null http://purl.obolibrary.org/obo/BTO_0002599 node EFO_0003893 ovarian neoplasm null http://www.ebi.ac.uk/efo/EFO_0003893 node NCBITaxon_224911 Bradyrhizobium japonicum USDA 110 null http://purl.obolibrary.org/obo/NCBITaxon_224911 node EFO_0002966 pancreatic cell null http://www.ebi.ac.uk/efo/EFO_0002966 node MONDO_0003037 hypotrichosis null http://purl.obolibrary.org/obo/MONDO_0003037 node CLO_0013127 GM17295 null http://purl.obolibrary.org/obo/CLO_0013127 node EFO_0000835 obsolete_esophagus null http://www.ebi.ac.uk/efo/EFO_0000835 node EFO_0000360 obsolete_colorectal tumor null http://www.ebi.ac.uk/efo/EFO_0000360 node EFO_1001041 mesenchymal chondrosarcoma null http://www.ebi.ac.uk/efo/EFO_1001041 node EFO_1001339 Heart neoplasm null http://www.ebi.ac.uk/efo/EFO_1001339 node EFO_0001342 Wistar null http://www.ebi.ac.uk/efo/EFO_0001342 node EFO_0005493 MT10430 null http://www.ebi.ac.uk/efo/EFO_0005493 node CLO_0033577 AG08046 null http://purl.obolibrary.org/obo/CLO_0033577 node OBI_0000272 protocol null http://purl.obolibrary.org/obo/OBI_0000272 node EFO_0001165 obsolete_H209 null http://www.ebi.ac.uk/efo/EFO_0001165 node NCBITaxon_1916 Streptomyces lividans null http://purl.obolibrary.org/obo/NCBITaxon_1916 node MONDO_0001402 vaginal cancer null http://purl.obolibrary.org/obo/MONDO_0001402 node EFO_0010438 triacylglycerol 58:11 measurement null http://www.ebi.ac.uk/efo/EFO_0010438 node EFO_0009870 bone metastasis null http://www.ebi.ac.uk/efo/EFO_0009870 node HP_0100529 Abnormal blood phosphate concentration null http://purl.obolibrary.org/obo/HP_0100529 node EFO_0006696 NCI-H847 null http://www.ebi.ac.uk/efo/EFO_0006696 node EFO_0000923 obsolete_hindbrain null http://www.ebi.ac.uk/efo/EFO_0000923 node Orphanet_262692 Partial trisomy of chromosome 20 null http://www.orpha.net/ORDO/Orphanet_262692 node Orphanet_1344 Atrial stand still null http://www.orpha.net/ORDO/Orphanet_1344 node CHEBI_7896 hexadecanoate null http://purl.obolibrary.org/obo/CHEBI_7896 node MONDO_0021580 neoplasm of jaw null http://purl.obolibrary.org/obo/MONDO_0021580 node EFO_0009000 Mast Cell Neoplasm null http://www.ebi.ac.uk/efo/EFO_0009000 node EFO_0004378 microgram per day null http://www.ebi.ac.uk/efo/EFO_0004378 node EFO_0010045 Start-seq null http://www.ebi.ac.uk/efo/EFO_0010045 node EFO_0010526 purine measurement null http://www.ebi.ac.uk/efo/EFO_0010526 node NCBITaxon_28116 Bacteroides ovatus null http://purl.obolibrary.org/obo/NCBITaxon_28116 node NCBITaxon_3693 Populus tremuloides null http://purl.obolibrary.org/obo/NCBITaxon_3693 node MONDO_0015412 median facial cleft null http://purl.obolibrary.org/obo/MONDO_0015412 node EFO_0000530 obsolete_hippocampus null http://www.ebi.ac.uk/efo/EFO_0000530 node NCBITaxon_326424 Frankia alni ACN14a null http://purl.obolibrary.org/obo/NCBITaxon_326424 node EFO_1001211 thromboangiitis obliterans null http://www.ebi.ac.uk/efo/EFO_1001211 node CHEBI_15598 2-methylcitrate (3-) null http://purl.obolibrary.org/obo/CHEBI_15598 node EFO_0005641 ATC Code L Antineoplastic and immunomodulating agents L ANTINEOPLASTIC AND IMMUNOMODULATING AGENTS This group comprises preparations used in the treatment of malignant neoplastic diseases, and immunomodulating agents. Corticosteroids for systemic use, see H02. L01 ANTINEOPLASTIC AGENTS Combination products are classified in L01XY - Combinations of antineoplastic agents. Detoxifying agents used in connection with high dose treatment of antineoplastic agents are classified in V03AF (e.g. calcium folinate) No DDDs have been established because of highly individualised use and wide dosage ranges. The doses used vary substantially because of various types and severity of neoplastic diseases, and also because of the extensive use of combination therapy. The consumption of the antineoplastic agents is in some countries measured in grams. This is recommended as a method to be used internationally for these particular agents. L02 ENDOCRINE THERAPY Estrogens and progestogens used specifically in the treatment of neoplastic diseases are classified in this group. This means that some strengths may be classified in this group, while remaining strengths are classified in G03 - Sex hormones and modulators of the genital system. The DDDs are based on the treatment of cancer (breast-, endometrial, and prostatic). L03 IMMUNOSTIMULANTS Immunosuppressants, see L04A. L04 IMMUNOSUPPRESSANTS Immunosuppressants are defined as agents that completely or partly suppress one or more factors in the immunosystem. http://www.ebi.ac.uk/efo/EFO_0005641 node EFO_0004714 sexual dysfunction null http://www.ebi.ac.uk/efo/EFO_0004714 node EFO_0010747 response to levodopa null http://www.ebi.ac.uk/efo/EFO_0010747 node CHEBI_20714 6-deoxycathasterone null http://purl.obolibrary.org/obo/CHEBI_20714 node EFO_0004160 whole chromosome random sequencing null http://www.ebi.ac.uk/efo/EFO_0004160 node EFO_1001515 ovarian endometrioid carcinoma null http://www.ebi.ac.uk/efo/EFO_1001515 node CL_0002395 Gr1-high classical monocyte Markers are associated with mice. The Gr epitope is used to describe this cell type is found on both Ly6c and Ly6g. However, its the Ly6c that is considered the specific marker, and thus used in the cross-product. http://purl.obolibrary.org/obo/CL_0002395 node HP_0011106 Hypovolemia null http://purl.obolibrary.org/obo/HP_0011106 node EFO_0004466 fasting blood insulin measurement null http://www.ebi.ac.uk/efo/EFO_0004466 node EFO_0003539 obsolete_otolith organ null http://www.ebi.ac.uk/efo/EFO_0003539 node EFO_1001913 Purpura Fulminans null http://www.ebi.ac.uk/efo/EFO_1001913 node EFO_0010133 diabetic maculopathy null http://www.ebi.ac.uk/efo/EFO_0010133 node CHEBI_3319 calicheamicin gamma1(I) null http://purl.obolibrary.org/obo/CHEBI_3319 node CHEBI_18222 xylose null http://purl.obolibrary.org/obo/CHEBI_18222 node EFO_0004279 suntan null http://www.ebi.ac.uk/efo/EFO_0004279 node CHEBI_31593 fasudil hydrochloride null http://purl.obolibrary.org/obo/CHEBI_31593 node Orphanet_1900 Ehlers-Danlos syndrome, kyphoscoliotic type null http://www.orpha.net/ORDO/Orphanet_1900 node HP_0011808 Decreased patellar reflex null http://purl.obolibrary.org/obo/HP_0011808 node EFO_0010354 diacylglycerol 36:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010354 node EFO_0010835 GM19023 null http://www.ebi.ac.uk/efo/EFO_0010835 node Orphanet_98950 Partial cryptophthalmia null http://www.orpha.net/ORDO/Orphanet_98950 node Orphanet_1713 17p11.2 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_1713 node GO_0033687 osteoblast proliferation null http://purl.obolibrary.org/obo/GO_0033687 node EFO_0010648 response to vitamin B3 null http://www.ebi.ac.uk/efo/EFO_0010648 node CHEBI_28717 O-decanoyl-L-carnitine null http://purl.obolibrary.org/obo/CHEBI_28717 node HP_0011007 obsolete_age of onset null http://purl.obolibrary.org/obo/HP_0011007 node Orphanet_295130 Brachydactyly of fingers, bilateral null http://www.orpha.net/ORDO/Orphanet_295130 node Orphanet_254920 Combined oxidative phosphorylation defect type 2 null http://www.orpha.net/ORDO/Orphanet_254920 node MONDO_0000469 sinoatrial node disease null http://purl.obolibrary.org/obo/MONDO_0000469 node HP_0009737 Lisch nodules null http://purl.obolibrary.org/obo/HP_0009737 node Orphanet_56305 Atelosteogenesis type III null http://www.orpha.net/ORDO/Orphanet_56305 node Orphanet_1801 Kyphomelic dysplasia null http://www.orpha.net/ORDO/Orphanet_1801 node UBERON_0001894 diencephalon null http://purl.obolibrary.org/obo/UBERON_0001894 node NCBITaxon_74648 Rosa lucieae null http://purl.obolibrary.org/obo/NCBITaxon_74648 node CLO_0016638 GM17775 null http://purl.obolibrary.org/obo/CLO_0016638 node EFO_0002851 RERF-LC-KJ null http://www.ebi.ac.uk/efo/EFO_0002851 node NCBITaxon_5059 Aspergillus flavus null http://purl.obolibrary.org/obo/NCBITaxon_5059 node EFO_0006754 SNU-216 null http://www.ebi.ac.uk/efo/EFO_0006754 node EFO_0009956 post-operative stroke null http://www.ebi.ac.uk/efo/EFO_0009956 node Orphanet_269570 Genetic syndrome with a Dandy-Walker malformation as major feature null http://www.orpha.net/ORDO/Orphanet_269570 node MONDO_0008289 brain small vessel disease 1 with or without ocular anomalies null http://purl.obolibrary.org/obo/MONDO_0008289 node Orphanet_2929 Juvenile polyposis syndrome null http://www.orpha.net/ORDO/Orphanet_2929 node UBERON_0001982 capillary null http://purl.obolibrary.org/obo/UBERON_0001982 node Orphanet_98685 Oculomotor palsy null http://www.orpha.net/ORDO/Orphanet_98685 node Orphanet_401869 Fatal multiple mitochondrial dysfunction syndrome type 1 null http://www.orpha.net/ORDO/Orphanet_401869 node Orphanet_391411 Atypical juvenile parkinsonism null http://www.orpha.net/ORDO/Orphanet_391411 node Orphanet_35737 Morning glory syndrome null http://www.orpha.net/ORDO/Orphanet_35737 node NCBITaxon_1624 Lactobacillus salivarius null http://purl.obolibrary.org/obo/NCBITaxon_1624 node EFO_0006842 diabetes mellitus biomarker null http://www.ebi.ac.uk/efo/EFO_0006842 node Orphanet_97555 Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy null http://www.orpha.net/ORDO/Orphanet_97555 node HP_0002293 Alopecia of scalp null http://purl.obolibrary.org/obo/HP_0002293 node HP_0008404 Nail dystrophy Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use. http://purl.obolibrary.org/obo/HP_0008404 node CHEBI_16113 cholesterol null http://purl.obolibrary.org/obo/CHEBI_16113 node MONDO_0002812 infectious otitis interna null http://purl.obolibrary.org/obo/MONDO_0002812 node Orphanet_3067 Intellectual disability - microcephaly - phalangeal - facial abnormalities null http://www.orpha.net/ORDO/Orphanet_3067 node GO_0042116 macrophage activation null http://purl.obolibrary.org/obo/GO_0042116 node Orphanet_98773 Spinocerebellar ataxia type 21 null http://www.orpha.net/ORDO/Orphanet_98773 node Orphanet_98568 Congenital entropion null http://www.orpha.net/ORDO/Orphanet_98568 node EFO_1001995 Sclerodermatomyositis null http://www.ebi.ac.uk/efo/EFO_1001995 node MONDO_0000151 symphalangism null http://purl.obolibrary.org/obo/MONDO_0000151 node HP_0002381 Aphasia Aphasia is caused by brain injury. The most common cause is stroke, but aphasia can also be caused by other factors such as head trauma, brain tumors, or infections. http://purl.obolibrary.org/obo/HP_0002381 node NCBITaxon_755351 Vitis vinifera subsp. silvestris null http://purl.obolibrary.org/obo/NCBITaxon_755351 node EFO_0007692 5C null http://www.ebi.ac.uk/efo/EFO_0007692 node EFO_1001358 Leprosy, Paucibacillary null http://www.ebi.ac.uk/efo/EFO_1001358 node EFO_1001839 respiratory aspiration null http://www.ebi.ac.uk/efo/EFO_1001839 node UBERON_0003851 diencephalon neural crest null http://purl.obolibrary.org/obo/UBERON_0003851 node EFO_0009252 Segmented Neutrophils to Neutrophils Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009252 node Orphanet_1795 Peripheral dysostosis null http://www.orpha.net/ORDO/Orphanet_1795 node EFO_0008711 DIP-seq null http://www.ebi.ac.uk/efo/EFO_0008711 node EFO_0000689 sampling time null http://www.ebi.ac.uk/efo/EFO_0000689 node EFO_0001910 brain structure developmental tissue null http://www.ebi.ac.uk/efo/EFO_0001910 node EFO_0008524 small cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0008524 node CHEBI_16437 N-acetyl-L-histidine null http://purl.obolibrary.org/obo/CHEBI_16437 node Orphanet_293168 Infantile-onset ascending hereditary spastic paralysis null http://www.orpha.net/ORDO/Orphanet_293168 node EFO_1001446 Uterine Inversion null http://www.ebi.ac.uk/efo/EFO_1001446 node EFO_0001220 MOLT-4 null http://www.ebi.ac.uk/efo/EFO_0001220 node Orphanet_3376 Triploidy null http://www.orpha.net/ORDO/Orphanet_3376 node EFO_0005876 embryonic stage 16 Temporal ordering number - 380. http://www.ebi.ac.uk/efo/EFO_0005876 node EFO_0004949 clinical temporal measurement null http://www.ebi.ac.uk/efo/EFO_0004949 node EFO_0010496 hippuric acid measurement null http://www.ebi.ac.uk/efo/EFO_0010496 node EFO_0003463 obsolete_presumptive forebrain midbrain boundary null http://www.ebi.ac.uk/efo/EFO_0003463 node Orphanet_91491 Congenital ectropion uveae null http://www.orpha.net/ORDO/Orphanet_91491 node EFO_0009340 Varicella zoster virus seropositivity null http://www.ebi.ac.uk/efo/EFO_0009340 node Orphanet_140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy null http://www.orpha.net/ORDO/Orphanet_140459 node EFO_0002359 SW1116 null http://www.ebi.ac.uk/efo/EFO_0002359 node Orphanet_308998 Disorder of glyoxylate metabolism null http://www.orpha.net/ORDO/Orphanet_308998 node Orphanet_1883 Ectodermal dysplasia - sensorineural deafness null http://www.orpha.net/ORDO/Orphanet_1883 node EFO_0009153 lymphedema, hereditary, iii null http://www.ebi.ac.uk/efo/EFO_0009153 node MONDO_0015934 non-syndromic urogenital tract malformation of male and female Editor note: consider obsoleting as semantics not clear http://purl.obolibrary.org/obo/MONDO_0015934 node EFO_0002288 NCI-H2405 null http://www.ebi.ac.uk/efo/EFO_0002288 node EFO_1000662 acneiform dermatitis null http://www.ebi.ac.uk/efo/EFO_1000662 node EFO_0000777 human granulocytic anaplasmosis null http://www.ebi.ac.uk/efo/EFO_0000777 node EFO_0009561 parasitic intestinal disease null http://www.ebi.ac.uk/efo/EFO_0009561 node EFO_0008612 vegetating cicatricial pemphigoid null http://www.ebi.ac.uk/efo/EFO_0008612 node EFO_0000614 narcolepsy with cataplexy null http://www.ebi.ac.uk/efo/EFO_0000614 node EFO_0008459 response to mepolizumab null http://www.ebi.ac.uk/efo/EFO_0008459 node HP_0011094 Overbite null http://purl.obolibrary.org/obo/HP_0011094 node EFO_0003551 obsolete_dorsal fin musculature null http://www.ebi.ac.uk/efo/EFO_0003551 node NCBITaxon_1309 Streptococcus mutans null http://purl.obolibrary.org/obo/NCBITaxon_1309 node EFO_1001291 ciguatera poisoning null http://www.ebi.ac.uk/efo/EFO_1001291 node EFO_0002070 LbetaT2 null http://www.ebi.ac.uk/efo/EFO_0002070 node UBERON_0001416 skin of abdomen null http://purl.obolibrary.org/obo/UBERON_0001416 node GO_0019233 sensory perception of pain null http://purl.obolibrary.org/obo/GO_0019233 node PO_0007120 LP.19 nineteen leaves visible stage null http://purl.obolibrary.org/obo/PO_0007120 node Orphanet_1490 Corneal dystrophy - perceptive deafness null http://www.orpha.net/ORDO/Orphanet_1490 node MONDO_0018743 immune-mediated acquired neuromuscular junction disease null http://purl.obolibrary.org/obo/MONDO_0018743 node PO_0007601 floral organ meristem development stage During this stage, the process of floral meristem growth (GO:0010451) occurs. This process is defined as the increase in size or mass of a floral meristem, a population of undifferentiated cells in a plant that gives rise to a flower. http://purl.obolibrary.org/obo/PO_0007601 node CHEBI_132006 cholesteryl icosatetraenoate null http://purl.obolibrary.org/obo/CHEBI_132006 node EFO_1000750 perinatal jaundice due to hepatocellular damage null http://www.ebi.ac.uk/efo/EFO_1000750 node Orphanet_415 Hyperornithinemia-hyperammonemia-homocitrullinuria null http://www.orpha.net/ORDO/Orphanet_415 node NCBITaxon_81473 Alopecurus myosuroides null http://purl.obolibrary.org/obo/NCBITaxon_81473 node HP_0008872 Feeding difficulties in infancy null http://purl.obolibrary.org/obo/HP_0008872 node EFO_0000221 acute monocytic leukemia null http://www.ebi.ac.uk/efo/EFO_0000221 node EFO_0005495 NSM null http://www.ebi.ac.uk/efo/EFO_0005495 node Orphanet_1123 Caudal appendage - deafness null http://www.orpha.net/ORDO/Orphanet_1123 node EFO_0003616 obsolete_posterior caudal vein null http://www.ebi.ac.uk/efo/EFO_0003616 node MONDO_0002426 lung sarcoma null http://purl.obolibrary.org/obo/MONDO_0002426 node EFO_0010210 sample barcode read null http://www.ebi.ac.uk/efo/EFO_0010210 node EFO_0005332 GM18505 null http://www.ebi.ac.uk/efo/EFO_0005332 node NCBITaxon_5811 Toxoplasma gondii null http://purl.obolibrary.org/obo/NCBITaxon_5811 node UBERON_0003922 pancreatic epithelial bud null http://purl.obolibrary.org/obo/UBERON_0003922 node Orphanet_251028 2q33.1 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_251028 node MONDO_0011962 endometrial cancer null http://purl.obolibrary.org/obo/MONDO_0011962 node EFO_0010912 endothelial cell-specific molecule 1 measurement null http://www.ebi.ac.uk/efo/EFO_0010912 node CL_0000791 mature alpha-beta T cell null http://purl.obolibrary.org/obo/CL_0000791 node UBERON_0002103 hindlimb null http://purl.obolibrary.org/obo/UBERON_0002103 node CL_0000810 CD4-positive, alpha-beta thymocyte null http://purl.obolibrary.org/obo/CL_0000810 node Orphanet_320411 Autosomal recessive spastic paraplegia type 56 null http://www.orpha.net/ORDO/Orphanet_320411 node EFO_1000201 Common Hematopoietic Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000201 node Orphanet_45448 Miyoshi myopathy Editor note: consider splitting out type 1 http://www.orpha.net/ORDO/Orphanet_45448 node Orphanet_316 Progressive symmetric erythrokeratodermia null http://www.orpha.net/ORDO/Orphanet_316 node Orphanet_228366 CLN7 disease null http://www.orpha.net/ORDO/Orphanet_228366 node EFO_0003704 obsolete_anterior lateral plate mesoderm null http://www.ebi.ac.uk/efo/EFO_0003704 node EFO_0006550 CCRF-SB null http://www.ebi.ac.uk/efo/EFO_0006550 node EFO_0005420 grey matter volume measurement null http://www.ebi.ac.uk/efo/EFO_0005420 node EFO_0000122 CS57803 null http://www.ebi.ac.uk/efo/EFO_0000122 node EFO_0001114 GM07056 null http://www.ebi.ac.uk/efo/EFO_0001114 node OBI_0000724 Illumina sequencing null http://purl.obolibrary.org/obo/OBI_0000724 node Orphanet_139 CHILD syndrome null http://www.orpha.net/ORDO/Orphanet_139 node MONDO_0000733 cornea plana null http://purl.obolibrary.org/obo/MONDO_0000733 node EFO_0005233 CH12.LX null http://www.ebi.ac.uk/efo/EFO_0005233 node NCBITaxon_326426 Bifidobacterium breve UCC2003 null http://purl.obolibrary.org/obo/NCBITaxon_326426 node Orphanet_40 Acromesomelic dysplasia, Maroteaux type null http://www.orpha.net/ORDO/Orphanet_40 node EFO_0005184 DBA/2J null http://www.ebi.ac.uk/efo/EFO_0005184 node CLO_0016497 GM17804 null http://purl.obolibrary.org/obo/CLO_0016497 node EFO_0009975 dilution HiC null http://www.ebi.ac.uk/efo/EFO_0009975 node Orphanet_183660 Severe combined immunodeficiency null http://www.orpha.net/ORDO/Orphanet_183660 node UBERON_0004135 distal tubule null http://purl.obolibrary.org/obo/UBERON_0004135 node MONDO_0000634 thoracic benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0000634 node MONDO_0021165 Paget disease null http://purl.obolibrary.org/obo/MONDO_0021165 node CL_0002118 CD38-negative IgG-negative class switched memory B cell null http://purl.obolibrary.org/obo/CL_0002118 node Orphanet_98155 Gonosome anomaly null http://www.orpha.net/ORDO/Orphanet_98155 node Orphanet_352718 Progressive retinal dystrophy due to retinol transport defect null http://www.orpha.net/ORDO/Orphanet_352718 node CHEBI_5098 flucloxacillin null http://purl.obolibrary.org/obo/CHEBI_5098 node EFO_0004228 drug-induced liver injury null http://www.ebi.ac.uk/efo/EFO_0004228 node EFO_0007074 DND-41 null http://www.ebi.ac.uk/efo/EFO_0007074 node NCBITaxon_11099 Bovine viral diarrhea virus 1 null http://purl.obolibrary.org/obo/NCBITaxon_11099 node MONDO_0000170 microphthalmia, isolated, with coloboma null http://purl.obolibrary.org/obo/MONDO_0000170 node Orphanet_2167 Holzgreve-Wagner-Rehder syndrome null http://www.orpha.net/ORDO/Orphanet_2167 node EFO_0002630 restrictive cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_0002630 node Orphanet_309505 Disorder of fucoglycosan synthesis null http://www.orpha.net/ORDO/Orphanet_309505 node EFO_0006533 A4/Fuk null http://www.ebi.ac.uk/efo/EFO_0006533 node CL_0002019 Ly-76 high reticulocyte Marker associated with mouse cells. http://purl.obolibrary.org/obo/CL_0002019 node CL_0002427 resting double-positive thymocyte null http://purl.obolibrary.org/obo/CL_0002427 node EFO_1000195 Colorectal Neuroendocrine Tumor G1 null http://www.ebi.ac.uk/efo/EFO_1000195 node GO_1990110 callus formation null http://purl.obolibrary.org/obo/GO_1990110 node EFO_0003698 obsolete_dorsal longitudinal anastomotic vessel null http://www.ebi.ac.uk/efo/EFO_0003698 node EFO_0001285 cleavage 2-cell null http://www.ebi.ac.uk/efo/EFO_0001285 node Orphanet_3448 Weaver-Williams syndrome null http://www.orpha.net/ORDO/Orphanet_3448 node Orphanet_98056 Rare genetic renal disease null http://www.orpha.net/ORDO/Orphanet_98056 node EFO_0007162 babesiosis null http://www.ebi.ac.uk/efo/EFO_0007162 node MONDO_0002913 cerebellar neoplasm null http://purl.obolibrary.org/obo/MONDO_0002913 node Orphanet_98464 X-linked syndromic intellectual disability null http://www.orpha.net/ORDO/Orphanet_98464 node EFO_1000897 diabetic ketoacidosis null http://www.ebi.ac.uk/efo/EFO_1000897 node MONDO_0012662 Usher syndrome type 2D null http://purl.obolibrary.org/obo/MONDO_0012662 node Orphanet_2390 Lichstenstein syndrome null http://www.orpha.net/ORDO/Orphanet_2390 node EFO_0007383 Mumps virus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007383 node CHEBI_50095 bucladesine null http://purl.obolibrary.org/obo/CHEBI_50095 node EFO_0008430 IgG monosialylation measurement null http://www.ebi.ac.uk/efo/EFO_0008430 node Orphanet_3232 Deafness - ear malformation - facial palsy null http://www.orpha.net/ORDO/Orphanet_3232 node MONDO_0002134 physiological sexual disorder null http://purl.obolibrary.org/obo/MONDO_0002134 node EFO_0001373 obsolete_precentral gyrus null http://www.ebi.ac.uk/efo/EFO_0001373 node EFO_1000681 congenital generalized lipodystrophy null http://www.ebi.ac.uk/efo/EFO_1000681 node EFO_0008929 SMA null http://www.ebi.ac.uk/efo/EFO_0008929 node MONDO_0002814 adrenal carcinoma null http://purl.obolibrary.org/obo/MONDO_0002814 node HP_0002791 Hypoventilation Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal. http://purl.obolibrary.org/obo/HP_0002791 node HP_0001864 Clinodactyly of the 5th toe null http://purl.obolibrary.org/obo/HP_0001864 node EFO_0007471 rhinosporidiosis null http://www.ebi.ac.uk/efo/EFO_0007471 node EFO_0002917 ovarian serous adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0002917 node UO_0000115 illuminance unit null http://purl.obolibrary.org/obo/UO_0000115 node EFO_0005567 malignant peritoneal mesothelioma null http://www.ebi.ac.uk/efo/EFO_0005567 node EFO_0003154 obsolete_Asian/Pacific Islander null http://www.ebi.ac.uk/efo/EFO_0003154 node Orphanet_400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin null http://www.orpha.net/ORDO/Orphanet_400011 node MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency null http://purl.obolibrary.org/obo/MONDO_0009612 node Orphanet_590 Congenital myasthenic syndromes null http://www.orpha.net/ORDO/Orphanet_590 node MONDO_0033533 combined oxidative phosphorylation deficiency 45 null http://purl.obolibrary.org/obo/MONDO_0033533 node UO_0000020 picometer null http://purl.obolibrary.org/obo/UO_0000020 node NCBITaxon_57161 Nectria rigidiuscula null http://purl.obolibrary.org/obo/NCBITaxon_57161 node NCBITaxon_870730 Ogataea angusta null http://purl.obolibrary.org/obo/NCBITaxon_870730 node MONDO_0043209 albinism This groups multiple types, including those restricted to the eyes, the skin or both http://purl.obolibrary.org/obo/MONDO_0043209 node EFO_0002524 obsolete_abdominal aorta null http://www.ebi.ac.uk/efo/EFO_0002524 node Orphanet_93283 Spondyloepiphyseal dysplasia, Kimberley type null http://www.orpha.net/ORDO/Orphanet_93283 node Orphanet_319519 Combined oxidative phosphorylation defect type 14 null http://www.orpha.net/ORDO/Orphanet_319519 node CHEBI_85753 triacylglycerol 58:9 null http://purl.obolibrary.org/obo/CHEBI_85753 node MONDO_0004187 nodular fasciitis null http://purl.obolibrary.org/obo/MONDO_0004187 node CL_0002598 bronchial smooth muscle cell null http://purl.obolibrary.org/obo/CL_0002598 node Orphanet_112 Bartter syndrome null http://www.orpha.net/ORDO/Orphanet_112 node CHEBI_17388 (S)-1-pyrroline-5-carboxylate null http://purl.obolibrary.org/obo/CHEBI_17388 node EFO_0010290 caudal middle frontal gyrus volume measurement null http://www.ebi.ac.uk/efo/EFO_0010290 node MONDO_0003430 prolactin producing pituitary tumor null http://purl.obolibrary.org/obo/MONDO_0003430 node UBERON_0010996 articular cartilage of joint null http://purl.obolibrary.org/obo/UBERON_0010996 node Orphanet_261572 Blepharophimosis - epicanthus inversus - ptosis due to a point mutation null http://www.orpha.net/ORDO/Orphanet_261572 node MONDO_0017956 mixed autoinflammatory and autoimmune syndrome null http://purl.obolibrary.org/obo/MONDO_0017956 node Orphanet_1528 Craniotelencephalic dysplasia null http://www.orpha.net/ORDO/Orphanet_1528 node Orphanet_261866 Partial deletion of the short arm of chromosome 2 null http://www.orpha.net/ORDO/Orphanet_261866 node NCBITaxon_4522 Lolium perenne null http://purl.obolibrary.org/obo/NCBITaxon_4522 node Orphanet_163662 Spondyloepiphyseal dysplasia, Reardon type null http://www.orpha.net/ORDO/Orphanet_163662 node EFO_1001070 ocular tuberculosis null http://www.ebi.ac.uk/efo/EFO_1001070 node MONDO_0060724 glycosylphosphatidylinositol biosynthesis defect 17 null http://purl.obolibrary.org/obo/MONDO_0060724 node EFO_0004092 VC199 null http://www.ebi.ac.uk/efo/EFO_0004092 node MONDO_0015133 quantitative and/or qualitative congenital phagocyte defect Editor note: check how relates to phagocytosis terms http://purl.obolibrary.org/obo/MONDO_0015133 node EFO_0005825 ML-DmD16-c3 null http://www.ebi.ac.uk/efo/EFO_0005825 node EFO_1001293 collagenous colitis null http://www.ebi.ac.uk/efo/EFO_1001293 node CHEBI_17126 carnitine null http://purl.obolibrary.org/obo/CHEBI_17126 node Orphanet_1429 Benign familial chorea null http://www.orpha.net/ORDO/Orphanet_1429 node PO_0007603 calyx development stage null http://purl.obolibrary.org/obo/PO_0007603 node EFO_0005638 ATC Code G Genito-urinary system and sex hormones G GENITO URINARY SYSTEM AND SEX HORMONES G01 GYNECOLOGICAL ANTIINFECTIVES AND ANTISEPTICS This group comprises gynecological antiinfectives and antiseptics mainly for local use. See also: J - Antiinfectives for systemic use D06 - Antibiotics and chemotherapeutics for dermatological use P01AB - Nitroimidazole derivatives The DDDs are based on the treatment of vaginal infections. G02 OTHER GYNECOLOGICALS Analgesics used in dysmenorrhea, see N02B - Other analgesics and antipyretics and M01A - Antiinflammatory and antirheumatic products, non-steroids. G03 SEX HORMONES AND MODULATORS OF THE GENITAL SYSTEM Other hormones, see H - Systemic hormonal preparations, excl. sex hormones and insulins. Sex hormones used only in the treatment of cancer (often selected strengths) are classified in L - Antineoplastic and immunomodulating agents. The DDDs of many of the hormone preparations may vary considerably with the route of administration due to substantial differences in bioavailability. The DDDs of depot preparations are calculated as the dose divided by the dosing interval. G04 UROLOGICALS Antiseptic and antiinfective preparations for systemic use specifically used in urinary tract infections, see J01. Antiinfectives for systemic use, see group J. Gynecological antiinfectives and antiseptics, see G01. http://www.ebi.ac.uk/efo/EFO_0005638 node CHEBI_78053 docosapentaenoate null http://purl.obolibrary.org/obo/CHEBI_78053 node MONDO_0036591 adrenal cortex neoplasm null http://purl.obolibrary.org/obo/MONDO_0036591 node OBI_0000415 PCR null http://purl.obolibrary.org/obo/OBI_0000415 node Orphanet_261638 Okihiro syndrome due to 20q13 microdeletion null http://www.orpha.net/ORDO/Orphanet_261638 node EFO_0007943 response to platinum-based neoadjuvant chemotherapy null http://www.ebi.ac.uk/efo/EFO_0007943 node CLO_0030309 GM15038 null http://purl.obolibrary.org/obo/CLO_0030309 node UBERON_0004288 skeleton null http://purl.obolibrary.org/obo/UBERON_0004288 node CHEBI_4828 ergothioneine null http://purl.obolibrary.org/obo/CHEBI_4828 node CHEBI_15940 nicotinic acid null http://purl.obolibrary.org/obo/CHEBI_15940 node MONDO_0060554 vertebral, cardiac, renal, and limb defects syndrome 1 null http://purl.obolibrary.org/obo/MONDO_0060554 node EFO_1001400 Pneumopericardium null http://www.ebi.ac.uk/efo/EFO_1001400 node Orphanet_263756 Partial deletion of the long arm of chromosome X null http://www.orpha.net/ORDO/Orphanet_263756 node EFO_0008980 UMI Method null http://www.ebi.ac.uk/efo/EFO_0008980 node CHEBI_57998 3-phosphoglycerate(3-) null http://purl.obolibrary.org/obo/CHEBI_57998 node HP_0008209 Premature ovarian insufficiency The causes of primary ovarian insuficiency (POI) include chromosomal and genetic defects, autoimmune processes, chemotherapy, radiation, infections and surgery, but many are unidentified (idiopathic). The age of 40 is set by convention but is supported by clinical observations. From a statistical point of view, the age limit of 40 is approximately two standard deviations (SD) below the average age at natural menopause (50 plus/minus 4 years). http://purl.obolibrary.org/obo/HP_0008209 node EFO_0008793 MALBAC null http://www.ebi.ac.uk/efo/EFO_0008793 node NCBITaxon_408172 marine metagenome null http://purl.obolibrary.org/obo/NCBITaxon_408172 node CL_0000337 obsolete_neuroblast (sensu Vertebrata) null http://purl.obolibrary.org/obo/CL_0000337 node UBERON_0000948 heart Taxon notes:" the ascidian tube-like heart lacks chambers....The ascidian heart is formed after metamorphosis as a simple tube-like structure with a single-layered myoepithelium that is continuous with a single-layered pericar- dial wall. It lacks chambers and endocardium.... The innovation of the chambered heart was a key event in vertebrate evolution, because the chambered heart generates one-way blood flow with high pressure, a critical requirement for the efficient blood supply of large-body vertebrates... all extant vertebrates have hearts with two or more chambers (Moorman and Christoffels 2003)" DOI:10.1101/gad.1485706 http://purl.obolibrary.org/obo/UBERON_0000948 node Orphanet_199348 Thiamine-responsive encephalopathy null http://www.orpha.net/ORDO/Orphanet_199348 node CHEBI_75342 1-oleoylglycerol null http://purl.obolibrary.org/obo/CHEBI_75342 node EFO_0006938 optic rim area measurement null http://www.ebi.ac.uk/efo/EFO_0006938 node GO_0022402 cell cycle process null http://purl.obolibrary.org/obo/GO_0022402 node EFO_0008881 Rapture null http://www.ebi.ac.uk/efo/EFO_0008881 node EFO_0009677 occlusion precerebral artery null http://www.ebi.ac.uk/efo/EFO_0009677 node EFO_0007883 taxonomic microbiome measurement null http://www.ebi.ac.uk/efo/EFO_0007883 node MONDO_0018335 deep dermatophytosis null http://purl.obolibrary.org/obo/MONDO_0018335 node MONDO_0000636 musculoskeletal system benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0000636 node CHEBI_7044 myoglobin null http://purl.obolibrary.org/obo/CHEBI_7044 node EFO_0008516 non-functioning pituitary adenoma null http://www.ebi.ac.uk/efo/EFO_0008516 node EFO_0003389 obsolete_embryonic hindgut null http://www.ebi.ac.uk/efo/EFO_0003389 node MONDO_0000044 hereditary hypophosphatemic rickets null http://purl.obolibrary.org/obo/MONDO_0000044 node MONDO_0014839 chorea, childhood-onset, with psychomotor retardation null http://purl.obolibrary.org/obo/MONDO_0014839 node Orphanet_93961 Laryngeal dyskinesia null http://www.orpha.net/ORDO/Orphanet_93961 node Orphanet_79459 Follicular atrophoderma-basal cell carcinoma null http://www.orpha.net/ORDO/Orphanet_79459 node Orphanet_2771 Bruck syndrome null http://www.orpha.net/ORDO/Orphanet_2771 node EFO_0007766 response to beta blocker null http://www.ebi.ac.uk/efo/EFO_0007766 node Orphanet_99170 Tarsal kink syndrome null http://www.orpha.net/ORDO/Orphanet_99170 node HP_0031192 Abnormal morphology of left ventricular trabeculae null http://purl.obolibrary.org/obo/HP_0031192 node MONDO_0045032 congenital secretory diarrhea null http://purl.obolibrary.org/obo/MONDO_0045032 node EFO_0008604 IgA pemphigus null http://www.ebi.ac.uk/efo/EFO_0008604 node Orphanet_53372 Hereditary geniospasm null http://www.orpha.net/ORDO/Orphanet_53372 node EFO_0007019 milk allergy measurement null http://www.ebi.ac.uk/efo/EFO_0007019 node EFO_0009366 quality of life during menstruation measurement null http://www.ebi.ac.uk/efo/EFO_0009366 node GO_0043227 membrane-bounded organelle null http://purl.obolibrary.org/obo/GO_0043227 node MONDO_0032737 spastic paraplegia 80, autosomal dominant null http://purl.obolibrary.org/obo/MONDO_0032737 node Orphanet_371439 Genetic cerebrovascular dementia null http://www.orpha.net/ORDO/Orphanet_371439 node EFO_0008825 Nanogrid RNA-Seq null http://www.ebi.ac.uk/efo/EFO_0008825 node EFO_0009648 parp inhibitor response null http://www.ebi.ac.uk/efo/EFO_0009648 node EFO_0007854 knee peak torque measurement null http://www.ebi.ac.uk/efo/EFO_0007854 node MONDO_0000148 pulmonary fibrosis and/or bone marrow failure, telomere-related See genetic heterogeneity of OMIM 614742. http://purl.obolibrary.org/obo/MONDO_0000148 node MONDO_0003937 spondylitis null http://purl.obolibrary.org/obo/MONDO_0003937 node HP_0004969 Peripheral pulmonary artery stenosis null http://purl.obolibrary.org/obo/HP_0004969 node MONDO_0030047 microcephaly, developmental delay, and brittle hair syndrome null http://purl.obolibrary.org/obo/MONDO_0030047 node Orphanet_971 Acrorenal syndrome null http://www.orpha.net/ORDO/Orphanet_971 node UBERON_0000057 urethra null http://purl.obolibrary.org/obo/UBERON_0000057 node Orphanet_251287 Benign concentric annular macular dystrophy null http://www.orpha.net/ORDO/Orphanet_251287 node EFO_0008006 skin aging measurement null http://www.ebi.ac.uk/efo/EFO_0008006 node MONDO_0015683 primary malignant peritoneal tumor null http://purl.obolibrary.org/obo/MONDO_0015683 node EFO_1000555 Submandibular Gland Adenoid Cystic Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000555 node Orphanet_281 Monosomy 5p null http://www.orpha.net/ORDO/Orphanet_281 node Orphanet_35710 Glucose-galactose malabsorption null http://www.orpha.net/ORDO/Orphanet_35710 node Orphanet_2329 Karsch-Neugebauer syndrome null http://www.orpha.net/ORDO/Orphanet_2329 node EFO_1001786 erythroplasia null http://www.ebi.ac.uk/efo/EFO_1001786 node EFO_0008432 lipoprotein-associated phospholipase A(2) change measurement null http://www.ebi.ac.uk/efo/EFO_0008432 node MONDO_0002311 retinal vascular disease null http://purl.obolibrary.org/obo/MONDO_0002311 node EFO_0004890 anti-social behavior null http://www.ebi.ac.uk/efo/EFO_0004890 node EFO_0008227 matrilysin measurement null http://www.ebi.ac.uk/efo/EFO_0008227 node MONDO_0001340 heart cancer null http://purl.obolibrary.org/obo/MONDO_0001340 node MONDO_0000413 infancy electroclinical syndrome null http://purl.obolibrary.org/obo/MONDO_0000413 node EFO_0008708 DeepCAGE null http://www.ebi.ac.uk/efo/EFO_0008708 node NCBITaxon_46244 Drosophila pseudoobscura bogotana null http://purl.obolibrary.org/obo/NCBITaxon_46244 node HP_0001162 Postaxial hand polydactyly null http://purl.obolibrary.org/obo/HP_0001162 node Orphanet_137678 Czech dysplasia, metatarsal type null http://www.orpha.net/ORDO/Orphanet_137678 node CHEBI_35666 thiopurines null http://purl.obolibrary.org/obo/CHEBI_35666 node EFO_1000144 Breast Diffuse Large B-Cell Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000144 node Orphanet_221039 Hereditary sclerosing poikiloderma, Weary type null http://www.orpha.net/ORDO/Orphanet_221039 node EFO_0003647 obsolete_axial mesoderm null http://www.ebi.ac.uk/efo/EFO_0003647 node EFO_0000728 obsolete_tumor null http://www.ebi.ac.uk/efo/EFO_0000728 node HP_0012598 Abnormal urine potassium concentration null http://purl.obolibrary.org/obo/HP_0012598 node HP_0030242 Portal vein thrombosis Portal vein thrombosis (PVT) can occur within the main portal vein, or it can occur in the branches of the portal vein within the liver itself. It can be an occluding thrombus or nonoccluding, with a clot present but continued blood flow through the vessel. The sequela of a long-standing PVT is cavernous formation of the portal vein, which represents bridging collaterals around the occlusion. http://purl.obolibrary.org/obo/HP_0030242 node EFO_1000438 Palmar Fibromatosis null http://www.ebi.ac.uk/efo/EFO_1000438 node EFO_0004387 inch null http://www.ebi.ac.uk/efo/EFO_0004387 node Orphanet_189466 Familial isolated hypoparathyroidism due to impaired PTH secretion null http://www.orpha.net/ORDO/Orphanet_189466 node Orphanet_99330 49,XYYYY syndrome null http://www.orpha.net/ORDO/Orphanet_99330 node EFO_1000846 brain hypoxia-Ischemia null http://www.ebi.ac.uk/efo/EFO_1000846 node EFO_0003868 mouth neoplasm null http://www.ebi.ac.uk/efo/EFO_0003868 node HP_0003228 Hypernatremia null http://purl.obolibrary.org/obo/HP_0003228 node EFO_0008315 vascular endothelial growth factor receptor 3 measurement null http://www.ebi.ac.uk/efo/EFO_0008315 node CLO_0030105 ND00022 null http://purl.obolibrary.org/obo/CLO_0030105 node EFO_0001050 obsolete_stamen null http://www.ebi.ac.uk/efo/EFO_0001050 node HP_0001250 Seizure A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. http://purl.obolibrary.org/obo/HP_0001250 node HP_0001548 Overgrowth null http://purl.obolibrary.org/obo/HP_0001548 node Orphanet_529 Roch-Leri mesosomatous lipomatosis null http://www.orpha.net/ORDO/Orphanet_529 node EFO_0000335 chromophobe renal cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0000335 node EFO_0000816 obsolete_vein null http://www.ebi.ac.uk/efo/EFO_0000816 node EFO_1001016 leukostasis null http://www.ebi.ac.uk/efo/EFO_1001016 node EFO_1000045 pancreatic neuroendocrine tumor null http://www.ebi.ac.uk/efo/EFO_1000045 node MONDO_0000924 compensatory emphysema null http://purl.obolibrary.org/obo/MONDO_0000924 node EFO_0003548 obsolete_epihyal null http://www.ebi.ac.uk/efo/EFO_0003548 node EFO_0008121 endothelin-converting enzyme 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008121 node HANCESTRO_0306 admixed ancestry null http://purl.obolibrary.org/obo/HANCESTRO_0306 node PO_0007117 SE.02 two nodes or internodes visible stage A measure of vegetative growth, but leaf production is to be preferred. http://purl.obolibrary.org/obo/PO_0007117 node EFO_0003956 seasonal allergic rhinitis null http://www.ebi.ac.uk/efo/EFO_0003956 node EFO_1001851 stomach rupture null http://www.ebi.ac.uk/efo/EFO_1001851 node OBI_0001468 cell specimen null http://purl.obolibrary.org/obo/OBI_0001468 node NCBITaxon_4690 Lilium longiflorum null http://purl.obolibrary.org/obo/NCBITaxon_4690 node EFO_1000266 Gallbladder Small Cell Neuroendocrine Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000266 node CHEBI_35260 1-benzofuran null http://purl.obolibrary.org/obo/CHEBI_35260 node EFO_1000747 parapsoriasis null http://www.ebi.ac.uk/efo/EFO_1000747 node HP_0001636 Tetralogy of Fallot null http://purl.obolibrary.org/obo/HP_0001636 node Orphanet_617 Congenital primary megaureter null http://www.orpha.net/ORDO/Orphanet_617 node EFO_0000218 acute erythroleukemia null http://www.ebi.ac.uk/efo/EFO_0000218 node EFO_1002031 Hodgkins lymphoma, mixed cellularity PMID:29196614 http://www.ebi.ac.uk/efo/EFO_1002031 node EFO_0010844 HG02623 null http://www.ebi.ac.uk/efo/EFO_0010844 node EFO_0010292 cerebral cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010292 node Orphanet_1705 Distal trisomy 14q null http://www.orpha.net/ORDO/Orphanet_1705 node MONDO_0024757 cardiovascular neoplasm null http://purl.obolibrary.org/obo/MONDO_0024757 node EFO_0002608 AIDS dementia null http://www.ebi.ac.uk/efo/EFO_0002608 node PO_0009084 pericarp null http://purl.obolibrary.org/obo/PO_0009084 node MONDO_0004247 peptic ulcer disease null http://purl.obolibrary.org/obo/MONDO_0004247 node EFO_0004961 Clark level V null http://www.ebi.ac.uk/efo/EFO_0004961 node EFO_1000354 Malignant Laryngeal Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000354 node MONDO_0017342 Epstein-Barr virus-related tumor null http://purl.obolibrary.org/obo/MONDO_0017342 node NCBITaxon_139649 Teleopsis dalmanni null http://purl.obolibrary.org/obo/NCBITaxon_139649 node NCBITaxon_536056 Escherichia coli DH1 null http://purl.obolibrary.org/obo/NCBITaxon_536056 node MONDO_0100143 critical COVID-19 infection null http://purl.obolibrary.org/obo/MONDO_0100143 node CL_0000807 DN3 thymocyte null http://purl.obolibrary.org/obo/CL_0000807 node EFO_0007499 streptococcal pneumonia null http://www.ebi.ac.uk/efo/EFO_0007499 node HANCESTRO_0005 European null http://purl.obolibrary.org/obo/HANCESTRO_0005 node Orphanet_70470 Hyperlipoproteinemia type 5 null http://www.orpha.net/ORDO/Orphanet_70470 node CHEBI_25016 lead null http://purl.obolibrary.org/obo/CHEBI_25016 node EFO_0010380 phosphatidylcholine 36:2 measurement null http://www.ebi.ac.uk/efo/EFO_0010380 node MONDO_0021058 neoplastic syndrome null http://purl.obolibrary.org/obo/MONDO_0021058 node EFO_0002215 Jiyoye null http://www.ebi.ac.uk/efo/EFO_0002215 node EFO_0005417 response to mTOR inhibitor null http://www.ebi.ac.uk/efo/EFO_0005417 node CL_0000091 Kupffer cell Markers: Mouse: F4/80+, CD11b-low, CD68+, sialoadhesin+, CD163/SRCR+; role or process: immune, antigen-presentation, clearance of senescent erythrocytes, iron metabolism. Kupffer cells are also reportedly C3aR-positive, CD14-low, CD54-positive, CD88-positive, and CD284-positive. They are also capable of producing IL-1, IL-6, TNF-alpha, nitric oxide, PGD2, PGE2, PGF2alpha, and TXA2. http://purl.obolibrary.org/obo/CL_0000091 node MONDO_0100189 apolipoprotein A-I deficiency null http://purl.obolibrary.org/obo/MONDO_0100189 node MONDO_0016402 mitochondrial disease with epilepsy null http://purl.obolibrary.org/obo/MONDO_0016402 node UBERON_0004067 lateral nasal prominence null http://purl.obolibrary.org/obo/UBERON_0004067 node NCBITaxon_5476 Candida albicans null http://purl.obolibrary.org/obo/NCBITaxon_5476 node EO_0007196 light regimen A type of light used in a commercial light box to simulate natural daylight. For experiments carried out in growth chambers, the daylight is a light source providing a color temperature of 6500+/-200 K at an illumination of 90 to 120 ft/candles. This source is typically provided by fluorescent, tungsten or halogen lamps. http://purl.obolibrary.org/obo/EO_0007196 node EFO_0004201 Illumina Genome Analyzer II null http://www.ebi.ac.uk/efo/EFO_0004201 node EFO_0005024 placental pericyte null http://www.ebi.ac.uk/efo/EFO_0005024 node EFO_0002303 NCI-H747 null http://www.ebi.ac.uk/efo/EFO_0002303 node MONDO_0002718 central nervous system teratoma null http://purl.obolibrary.org/obo/MONDO_0002718 node NCBITaxon_5699 Trypanosoma vivax null http://purl.obolibrary.org/obo/NCBITaxon_5699 node NCBITaxon_183925 Methanobacteria null http://purl.obolibrary.org/obo/NCBITaxon_183925 node EFO_0007188 Bunyaviridae infectious disease null http://www.ebi.ac.uk/efo/EFO_0007188 node MONDO_0100114 dry age related macular degeneration null http://purl.obolibrary.org/obo/MONDO_0100114 node EFO_0006647 MEL-HO null http://www.ebi.ac.uk/efo/EFO_0006647 node Orphanet_262643 Partial trisomy/tetrasomy of chromosome 9 null http://www.orpha.net/ORDO/Orphanet_262643 node Orphanet_1276 Brachydactyly - arterial hypertension null http://www.orpha.net/ORDO/Orphanet_1276 node MONDO_0030916 intellectual disability, autosomal dominant 50 null http://purl.obolibrary.org/obo/MONDO_0030916 node EFO_0008982 VirCapSeq-VERT null http://www.ebi.ac.uk/efo/EFO_0008982 node NCBITaxon_243159 Acidithiobacillus ferrooxidans ATCC 23270 null http://purl.obolibrary.org/obo/NCBITaxon_243159 node Orphanet_2118 Hawkinsinuria null http://www.orpha.net/ORDO/Orphanet_2118 node EFO_0008795 MARIO null http://www.ebi.ac.uk/efo/EFO_0008795 node Orphanet_255249 Leigh syndrome with nephrotic syndrome null http://www.orpha.net/ORDO/Orphanet_255249 node CHEBI_27410 N-methyl-6-pyridone-3-carboxamide null http://purl.obolibrary.org/obo/CHEBI_27410 node MONDO_0002619 bone fibrosarcoma null http://purl.obolibrary.org/obo/MONDO_0002619 node EFO_0007276 follicular dendritic cell sarcoma null http://www.ebi.ac.uk/efo/EFO_0007276 node Orphanet_254881 Spinocerebellar ataxia with epilepsy null http://www.orpha.net/ORDO/Orphanet_254881 node Orphanet_79254 Classical phenylketonuria null http://www.orpha.net/ORDO/Orphanet_79254 node Orphanet_33355 Reticular dysgenesis null http://www.orpha.net/ORDO/Orphanet_33355 node Orphanet_93465 Lethal chondrodysplasia null http://www.orpha.net/ORDO/Orphanet_93465 node Orphanet_2206 Ankylosing vertebral hyperostosis with tylosis null http://www.orpha.net/ORDO/Orphanet_2206 node EFO_0008883 RBBS null http://www.ebi.ac.uk/efo/EFO_0008883 node EFO_0000885 obsolete_wing null http://www.ebi.ac.uk/efo/EFO_0000885 node HP_0400007 Polymenorrhea null http://purl.obolibrary.org/obo/HP_0400007 node CHEBI_22470 alpha-tocopherol null http://purl.obolibrary.org/obo/CHEBI_22470 node MONDO_0019460 acute leukemia of ambiguous lineage null http://purl.obolibrary.org/obo/MONDO_0019460 node Orphanet_1787 Acrofacial dysostosis, Palagonia type null http://www.orpha.net/ORDO/Orphanet_1787 node EFO_0009057 Spinocerebellar ataxia type 40 null http://www.ebi.ac.uk/efo/EFO_0009057 node UO_0000046 derived unit null http://purl.obolibrary.org/obo/UO_0000046 node EFO_0000698 signet ring cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0000698 node MONDO_0019283 nail anomaly null http://purl.obolibrary.org/obo/MONDO_0019283 node Orphanet_209370 Severe neonatal-onset encephalopathy with microcephaly null http://www.orpha.net/ORDO/Orphanet_209370 node Orphanet_65287 Beta-ureidopropionase deficiency null http://www.orpha.net/ORDO/Orphanet_65287 node Orphanet_79155 Encephalopathy due to hydroxykynureninuria null http://www.orpha.net/ORDO/Orphanet_79155 node Orphanet_225703 Mitochondrial disease with peripheral neuropathy null http://www.orpha.net/ORDO/Orphanet_225703 node EFO_0008484 response to carbamazepine null http://www.ebi.ac.uk/efo/EFO_0008484 node HP_0031685 Abnormal stool composition null http://purl.obolibrary.org/obo/HP_0031685 node EFO_0009531 aortic valve disease null http://www.ebi.ac.uk/efo/EFO_0009531 node Orphanet_168601 Congenital enteropathy due to enteropeptidase deficiency null http://www.orpha.net/ORDO/Orphanet_168601 node Orphanet_2387 Leukonychia totalis null http://www.orpha.net/ORDO/Orphanet_2387 node CL_0000889 myeloid suppressor cell Markers: Mouse: CD11b+GR1+CD31+; Human: CD34+ CD33+CD15-CD13+. (According to some reports in humans these cells are iNOS+ARG1+IL13+IFNg+); location: In cancerous tissue; in the blood and lymphoid organs in sepsis. http://purl.obolibrary.org/obo/CL_0000889 node CL_0001026 CD34-positive, CD38-positive common myeloid progenitor Markers are associated with human cell type. Originally described in the dendritic cell ontology (DC_CL:0000038)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001026 node Orphanet_1394 Cerebro-facio-thoracic dysplasia null http://www.orpha.net/ORDO/Orphanet_1394 node EFO_0009145 limb-girdle muscular dystrophy-dystroglycanopathy, type c1 null http://www.ebi.ac.uk/efo/EFO_0009145 node bao#BAO_0000925 Glucose-6-phosphate null http://www.bioassayontology.org/bao#BAO_0000925 node EFO_0002297 NCI-H630 null http://www.ebi.ac.uk/efo/EFO_0002297 node MONDO_0009063 ventriculomegaly-cystic kidney disease null http://purl.obolibrary.org/obo/MONDO_0009063 node UO_0000134 Gray null http://purl.obolibrary.org/obo/UO_0000134 node EFO_0002882 YCC7 null http://www.ebi.ac.uk/efo/EFO_0002882 node EFO_0000786 anatomy basic component null http://www.ebi.ac.uk/efo/EFO_0000786 node Orphanet_99172 Euryblepharon null http://www.orpha.net/ORDO/Orphanet_99172 node CL_0000860 classical monocyte Markers: CCR2+CXCCR1<low> (human, mouse, rat). http://purl.obolibrary.org/obo/CL_0000860 node EFO_0001778 software variation design null http://www.ebi.ac.uk/efo/EFO_0001778 node EFO_1000720 keratosis null http://www.ebi.ac.uk/efo/EFO_1000720 node Orphanet_93397 Brachydactyly type A7 null http://www.orpha.net/ORDO/Orphanet_93397 node EFO_0008572 malnutrition null http://www.ebi.ac.uk/efo/EFO_0008572 node NCBITaxon_7462 Apis dorsata null http://purl.obolibrary.org/obo/NCBITaxon_7462 node EFO_0009368 factor VII activating protease measurement null http://www.ebi.ac.uk/efo/EFO_0009368 node FBbt_00005552 ventral sensory complex primordium null http://purl.obolibrary.org/obo/FBbt_00005552 node ZFA_0000265 presumptive dorsal mesoderm null http://purl.obolibrary.org/obo/ZFA_0000265 node EFO_0008395 response to darapladib null http://www.ebi.ac.uk/efo/EFO_0008395 node CL_0000977 IgG short lived plasma cell null http://purl.obolibrary.org/obo/CL_0000977 node NCBITaxon_93061 Staphylococcus aureus subsp. aureus NCTC 8325 null http://purl.obolibrary.org/obo/NCBITaxon_93061 node MONDO_0025303 anaplasmosis null http://purl.obolibrary.org/obo/MONDO_0025303 node Orphanet_400008 Rare genetic female infertility null http://www.orpha.net/ORDO/Orphanet_400008 node Orphanet_370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome null http://www.orpha.net/ORDO/Orphanet_370022 node EFO_0002970 muscular disease Editor note: consider merging with child http://www.ebi.ac.uk/efo/EFO_0002970 node EFO_0003812 refractory anemia with ringed sideroblasts null http://www.ebi.ac.uk/efo/EFO_0003812 node HANCESTRO_0573 Native Hawaiian null http://purl.obolibrary.org/obo/HANCESTRO_0573 node Orphanet_1295 Brachytelephalangy - dysmorphism - Kallmann syndrome null http://www.orpha.net/ORDO/Orphanet_1295 node EFO_0002783 GM06990 null http://www.ebi.ac.uk/efo/EFO_0002783 node CLO_0014362 GM17229 null http://purl.obolibrary.org/obo/CLO_0014362 node HP_0000463 Anteverted nares The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. http://purl.obolibrary.org/obo/HP_0000463 node CL_0000584 enterocyte null http://purl.obolibrary.org/obo/CL_0000584 node Orphanet_96186 Maternal uniparental disomy of chromosome 20 null http://www.orpha.net/ORDO/Orphanet_96186 node NCBITaxon_37733 Prunus necrotic ringspot virus null http://purl.obolibrary.org/obo/NCBITaxon_37733 node HP_0000286 Epicanthus In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. http://purl.obolibrary.org/obo/HP_0000286 node Orphanet_93322 Tibial hemimelia null http://www.orpha.net/ORDO/Orphanet_93322 node Orphanet_1858 Skeletal dysplasia - epilepsy - short stature null http://www.orpha.net/ORDO/Orphanet_1858 node CLO_0013177 GM17268 null http://purl.obolibrary.org/obo/CLO_0013177 node CHEBI_16150 benzoate null http://purl.obolibrary.org/obo/CHEBI_16150 node EFO_0004564 obsolete_pericardial fat null http://www.ebi.ac.uk/efo/EFO_0004564 node MONDO_0003632 endocervicitis null http://purl.obolibrary.org/obo/MONDO_0003632 node EFO_1001389 Peptic ulcer perforation null http://www.ebi.ac.uk/efo/EFO_1001389 node UBERON_0001066 intervertebral disk whose gel-like core is nucleus puloposus, by this definition only in mammals http://purl.obolibrary.org/obo/UBERON_0001066 node UBERON_2000090 apical ectodermal ridge dorsal fin null http://purl.obolibrary.org/obo/UBERON_2000090 node EFO_0005939 parental genotype effect measurement null http://www.ebi.ac.uk/efo/EFO_0005939 node EFO_0005193 serum IgG glycosylation measurement null http://www.ebi.ac.uk/efo/EFO_0005193 node EFO_0001052 obsolete_plant ovary null http://www.ebi.ac.uk/efo/EFO_0001052 node CHEBI_37700 protein kinase C inhibitor null http://purl.obolibrary.org/obo/CHEBI_37700 node GO_0048513 organ development null http://purl.obolibrary.org/obo/GO_0048513 node HP_0012382 Left-to-right shunt null http://purl.obolibrary.org/obo/HP_0012382 node Orphanet_32 Glutathione synthetase deficiency null http://www.orpha.net/ORDO/Orphanet_32 node EFO_0008984 WGA-X null http://www.ebi.ac.uk/efo/EFO_0008984 node EFO_0009602 prostate disease null http://www.ebi.ac.uk/efo/EFO_0009602 node CHEBI_28364 all-cis-icosa-5,8,11,14,17-pentaenoic acid null http://purl.obolibrary.org/obo/CHEBI_28364 node PO_0007119 LP.16 sixteen leaves visible stage null http://purl.obolibrary.org/obo/PO_0007119 node EFO_0002111 ARH77 null http://www.ebi.ac.uk/efo/EFO_0002111 node MONDO_0001730 urethral syndrome null http://purl.obolibrary.org/obo/MONDO_0001730 node MONDO_0000628 central nervous system organ benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0000628 node MONDO_0007859 palmoplantar keratoderma i, striate, focal, or diffuse null http://purl.obolibrary.org/obo/MONDO_0007859 node GO_0000003 reproductive process null http://purl.obolibrary.org/obo/GO_0000003 node MONDO_0002798 childhood central nervous system primitive neuroectodermal neoplasm null http://purl.obolibrary.org/obo/MONDO_0002798 node Orphanet_100991 Autosomal dominant spastic paraplegia type 10 null http://www.orpha.net/ORDO/Orphanet_100991 node EFO_0006503 dense area measurement null http://www.ebi.ac.uk/efo/EFO_0006503 node HP_0012448 Delayed myelination null http://purl.obolibrary.org/obo/HP_0012448 node HP_0002267 Exaggerated startle response null http://purl.obolibrary.org/obo/HP_0002267 node EFO_0006326 response to bupropion null http://www.ebi.ac.uk/efo/EFO_0006326 node EFO_0000026 CS57595 null http://www.ebi.ac.uk/efo/EFO_0000026 node EFO_0010652 intellectual developmental disorder with short stature and behavioral abnormalities null http://www.ebi.ac.uk/efo/EFO_0010652 node EFO_0010447 3-hydroxyanthranilic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010447 node Orphanet_1540 Jackson-Weiss syndrome null http://www.orpha.net/ORDO/Orphanet_1540 node NCBITaxon_4054 Panax ginseng null http://purl.obolibrary.org/obo/NCBITaxon_4054 node Orphanet_98572 Canthal anomaly null http://www.orpha.net/ORDO/Orphanet_98572 node Orphanet_79344 Autosomal dominant chondrodysplasia punctata null http://www.orpha.net/ORDO/Orphanet_79344 node EFO_0005137 conduction system disorder requested by James Ware http://www.ebi.ac.uk/efo/EFO_0005137 node CLO_0016554 GM17756 null http://purl.obolibrary.org/obo/CLO_0016554 node Orphanet_2576 MULIBREY nanism null http://www.orpha.net/ORDO/Orphanet_2576 node CHEBI_50866 3H-1,2-dithiole-3-thione null http://purl.obolibrary.org/obo/CHEBI_50866 node Orphanet_178307 Reticulate acropigmentation of Kitamura null http://www.orpha.net/ORDO/Orphanet_178307 node MONDO_0002886 common bile duct disease null http://purl.obolibrary.org/obo/MONDO_0002886 node EFO_0010241 galectin-3-binding protein measurement null http://www.ebi.ac.uk/efo/EFO_0010241 node EFO_0007540 animal viral hepatitis null http://www.ebi.ac.uk/efo/EFO_0007540 node Orphanet_309851 Disorder of manganese transport null http://www.orpha.net/ORDO/Orphanet_309851 node Orphanet_309288 Alpha-mannosidosis, adult form null http://www.orpha.net/ORDO/Orphanet_309288 node EFO_0010535 sucrose measurement null http://www.ebi.ac.uk/efo/EFO_0010535 node EFO_0010054 response to mycophenolic acid null http://www.ebi.ac.uk/efo/EFO_0010054 node EFO_0008280 serine protease 27 measurement null http://www.ebi.ac.uk/efo/EFO_0008280 node EFO_0001967 medial collateral ligament null http://www.ebi.ac.uk/efo/EFO_0001967 node EFO_0007353 lymphogranuloma venereum null http://www.ebi.ac.uk/efo/EFO_0007353 node EFO_0006414 HC11 null http://www.ebi.ac.uk/efo/EFO_0006414 node EFO_0000114 CS57777 null http://www.ebi.ac.uk/efo/EFO_0000114 node CL_0002365 medullary thymic epithelial cell null http://purl.obolibrary.org/obo/CL_0002365 node Orphanet_90324 Cockayne syndrome type 3 Editor note: consider obsoletion. obsolete in OMIM. No info in GHR http://www.orpha.net/ORDO/Orphanet_90324 node Orphanet_79432 Oculocutaneous albinism type 2 null http://www.orpha.net/ORDO/Orphanet_79432 node EFO_0006812 autoimmune thyroid disease Disease of the thyroid gland due to autoimmunity in which the patient's immune system attacks and damages their thyroid. It can be either hyper- or hypothyroidism. (http://www.medicinenet.com/script/main/art.asp?articlekey=24314 - accessed 20th July, 2015) http://www.ebi.ac.uk/efo/EFO_0006812 node CHEBI_63599 fludarabine phosphate null http://purl.obolibrary.org/obo/CHEBI_63599 node EFO_0005225 human african trypanosomiasis null http://www.ebi.ac.uk/efo/EFO_0005225 node NCBITaxon_5478 Candida glabrata null http://purl.obolibrary.org/obo/NCBITaxon_5478 node CLO_0016642 GM17782 null http://purl.obolibrary.org/obo/CLO_0016642 node Orphanet_98473 Muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_98473 node Orphanet_1441 Ring chromosome 17 null http://www.orpha.net/ORDO/Orphanet_1441 node Orphanet_100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B null http://www.orpha.net/ORDO/Orphanet_100044 node Orphanet_776 X-linked intellectual disability with marfanoid habitus null http://www.orpha.net/ORDO/Orphanet_776 node MONDO_0015488 predominantly large-vessel vasculitis null http://purl.obolibrary.org/obo/MONDO_0015488 node EFO_0001751 organism status design null http://www.ebi.ac.uk/efo/EFO_0001751 node NCBITaxon_55097 Mobala virus null http://purl.obolibrary.org/obo/NCBITaxon_55097 node GO_0005794 Golgi apparatus Note that the Golgi apparatus can be located in various places in the cytoplasm. In plants and lower animal cells, the Golgi apparatus exists as many copies of discrete stacks dispersed throughout the cytoplasm, while the Golgi apparatus of interphase mammalian cells is a juxtanuclear, often pericentriolar reticulum, where the discrete Golgi stacks are stitched together to form a compact and interconnected ribbon, sometimes called the Golgi ribbon. http://purl.obolibrary.org/obo/GO_0005794 node Orphanet_102373 Primary glomerular disease null http://www.orpha.net/ORDO/Orphanet_102373 node CHEBI_3515 cefuroxime null http://purl.obolibrary.org/obo/CHEBI_3515 node Orphanet_2885 Piebald trait - neurologic defects null http://www.orpha.net/ORDO/Orphanet_2885 node Orphanet_183536 Genetic congenital limb malformation null http://www.orpha.net/ORDO/Orphanet_183536 node EFO_0008669 CAGEscan null http://www.ebi.ac.uk/efo/EFO_0008669 node EFO_0010142 same-sex sexual behavior null http://www.ebi.ac.uk/efo/EFO_0010142 node EFO_0010623 tissue factor measurement null http://www.ebi.ac.uk/efo/EFO_0010623 node EFO_0007441 placenta disease null http://www.ebi.ac.uk/efo/EFO_0007441 node CL_0000040 monoblast Morphology: mononuclear cell, diameter 12-20 _M, non-granular, N/C ratio 3/1 - 4/1; markers: CD11b (shared with many other myeloid cells); location: Adult: bone marrow; fetal: liver, Yolk Sac; role or process: hematopoiesis, monocyte development; lineage: hematopoietic, myeloid. http://purl.obolibrary.org/obo/CL_0000040 node NCBITaxon_10239 Virus null http://purl.obolibrary.org/obo/NCBITaxon_10239 node EFO_0006900 endothelial growth factor measurement null http://www.ebi.ac.uk/efo/EFO_0006900 node CLO_0016525 GM17837 null http://purl.obolibrary.org/obo/CLO_0016525 node Orphanet_85334 X-linked neurodegenerative syndrome, Bertini type null http://www.orpha.net/ORDO/Orphanet_85334 node MONDO_0030020 combined oxidative phosphorylation deficiency 44 null http://purl.obolibrary.org/obo/MONDO_0030020 node Orphanet_93958 Oromandibular dystonia null http://www.orpha.net/ORDO/Orphanet_93958 node UBERON_0000358 blastocyst null http://purl.obolibrary.org/obo/UBERON_0000358 node HP_0011203 EEG with abnormally slow frequencies null http://purl.obolibrary.org/obo/HP_0011203 node Orphanet_1952 Pacman dysplasia null http://www.orpha.net/ORDO/Orphanet_1952 node EFO_0009222 Hemoglobin O-Arab to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009222 node EFO_0007278 fungal lung infectious disease null http://www.ebi.ac.uk/efo/EFO_0007278 node MONDO_0033542 immunodeficiency 70 null http://purl.obolibrary.org/obo/MONDO_0033542 node UBERON_0002182 main bronchus null http://purl.obolibrary.org/obo/UBERON_0002182 node Orphanet_395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency null http://www.orpha.net/ORDO/Orphanet_395 node Orphanet_261974 Partial deletion of the short arm of chromosome 18 null http://www.orpha.net/ORDO/Orphanet_261974 node Orphanet_232 Sickle cell anemia null http://www.orpha.net/ORDO/Orphanet_232 node Orphanet_101007 Autosomal recessive spastic paraplegia type 27 null http://www.orpha.net/ORDO/Orphanet_101007 node MONDO_0001641 severe pre-eclampsia null http://purl.obolibrary.org/obo/MONDO_0001641 node NCBITaxon_1359 Lactococcus lactis subsp. cremoris null http://purl.obolibrary.org/obo/NCBITaxon_1359 node EFO_0003620 obsolete_axial vasculature null http://www.ebi.ac.uk/efo/EFO_0003620 node EFO_0009926 Vasodilators used in cardiac diseases use measurement null http://www.ebi.ac.uk/efo/EFO_0009926 node MONDO_0019086 carcinoma of esophagus null http://purl.obolibrary.org/obo/MONDO_0019086 node CLO_0022320 AG14446 null http://purl.obolibrary.org/obo/CLO_0022320 node EFO_1000411 Osteochondroma null http://www.ebi.ac.uk/efo/EFO_1000411 node EFO_0009749 age at first sexual intercourse measurement null http://www.ebi.ac.uk/efo/EFO_0009749 node HP_0001300 Parkinsonism null http://purl.obolibrary.org/obo/HP_0001300 node EFO_1000258 Fibrous Meningioma null http://www.ebi.ac.uk/efo/EFO_1000258 node EFO_0009310 10X v2 sequencing null http://www.ebi.ac.uk/efo/EFO_0009310 node CHEBI_77761 piperidin-2-one null http://purl.obolibrary.org/obo/CHEBI_77761 node EFO_0009059 Spinocerebellar ataxia type 42 null http://www.ebi.ac.uk/efo/EFO_0009059 node EFO_0008208 leukocyte immunoglobulin-like receptor subfamily B member 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008208 node EFO_0009720 able to hear with hearing aids null http://www.ebi.ac.uk/efo/EFO_0009720 node MONDO_0020604 X-linked dominant disease null http://purl.obolibrary.org/obo/MONDO_0020604 node CHEBI_83046 5-dodecenoate null http://purl.obolibrary.org/obo/CHEBI_83046 node Orphanet_99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect null http://www.orpha.net/ORDO/Orphanet_99046 node CHEBI_35522 beta-adrenergic agonist null http://purl.obolibrary.org/obo/CHEBI_35522 node EFO_0006993 response to mineral dust exposure null http://www.ebi.ac.uk/efo/EFO_0006993 node EFO_0009533 basal ganglia disease null http://www.ebi.ac.uk/efo/EFO_0009533 node Orphanet_65743 Autosomal dominant multiple pterygium syndrome null http://www.orpha.net/ORDO/Orphanet_65743 node MONDO_0009930 pulmonary arteriovenous malformation (disease) null http://purl.obolibrary.org/obo/MONDO_0009930 node Orphanet_320 Apparent mineralocorticoid excess null http://www.orpha.net/ORDO/Orphanet_320 node Orphanet_209044 Qualitative or quantitative defects of alphaB-cristallin null http://www.orpha.net/ORDO/Orphanet_209044 node Orphanet_97 Familial paroxysmal ataxia null http://www.orpha.net/ORDO/Orphanet_97 node EFO_0009837 bronchodilation null http://www.ebi.ac.uk/efo/EFO_0009837 node EFO_0003521 obsolete_torus lateralis null http://www.ebi.ac.uk/efo/EFO_0003521 node HP_0000341 Narrow forehead A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. http://purl.obolibrary.org/obo/HP_0000341 node EFO_0007424 pasteurellosis null http://www.ebi.ac.uk/efo/EFO_0007424 node Orphanet_397951 Microcephaly-thin corpus callosum-intellectual disability syndrome null http://www.orpha.net/ORDO/Orphanet_397951 node EFO_1000346 Major Salivary Gland Mucoepidermoid Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000346 node EFO_0009147 partial adenosine deaminase deficiency null http://www.ebi.ac.uk/efo/EFO_0009147 node Orphanet_178389 Osteopetrosis - hypogammaglobulinemia null http://www.orpha.net/ORDO/Orphanet_178389 node HP_0006515 Interstitial pneumonitis null http://purl.obolibrary.org/obo/HP_0006515 node NCBITaxon_13164 Myzus persicae null http://purl.obolibrary.org/obo/NCBITaxon_13164 node UBERON_0001707 nasal cavity null http://purl.obolibrary.org/obo/UBERON_0001707 node EFO_0009621 shoulder fracture null http://www.ebi.ac.uk/efo/EFO_0009621 node EFO_1001965 pharyngeal squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_1001965 node HP_0002269 Abnormality of neuronal migration null http://purl.obolibrary.org/obo/HP_0002269 node MONDO_0044699 SIN3A-related intellectual disability syndrome null http://purl.obolibrary.org/obo/MONDO_0044699 node CHEBI_26708 sodium null http://purl.obolibrary.org/obo/CHEBI_26708 node Orphanet_284169 10p11.21p12.31 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_284169 node EFO_1001788 Eye Burns null http://www.ebi.ac.uk/efo/EFO_1001788 node CL_0000838 lymphoid lineage restricted progenitor cell Note that this is a class of cell types, not an identified single cell type. http://purl.obolibrary.org/obo/CL_0000838 node EFO_0002428 chronic myeloproliferative disorder null http://www.ebi.ac.uk/efo/EFO_0002428 node UBERON_0012249 ectocervix null http://purl.obolibrary.org/obo/UBERON_0012249 node EFO_1001098 pericoronitis null http://www.ebi.ac.uk/efo/EFO_1001098 node EFO_0002909 microscopy assay null http://www.ebi.ac.uk/efo/EFO_0002909 node Orphanet_308451 Disorder of neutral amino acid transport null http://www.orpha.net/ORDO/Orphanet_308451 node UBERON_0001231 nephron tubule null http://purl.obolibrary.org/obo/UBERON_0001231 node Orphanet_2083 Prominent glabella - microcephaly - hypogenitalism null http://www.orpha.net/ORDO/Orphanet_2083 node MONDO_0021487 benign neoplasm of choroid null http://purl.obolibrary.org/obo/MONDO_0021487 node Orphanet_324575 Hyperinsulinism due to HNF1A deficiency null http://www.orpha.net/ORDO/Orphanet_324575 node MONDO_0000380 paranasal sinus carcinoma null http://purl.obolibrary.org/obo/MONDO_0000380 node CHEBI_31991 phenol red null http://purl.obolibrary.org/obo/CHEBI_31991 node EO_0001055 inorganic gas treatment null http://purl.obolibrary.org/obo/EO_0001055 node UBERON_0002299 alveolus of lung null http://purl.obolibrary.org/obo/UBERON_0002299 node EFO_0002516 obsolete_inferior ganglion of vagus nerve null http://www.ebi.ac.uk/efo/EFO_0002516 node NCBITaxon_2097 Mycoplasma genitalium null http://purl.obolibrary.org/obo/NCBITaxon_2097 node Orphanet_271835 Genetic digestive tract tumor null http://www.orpha.net/ORDO/Orphanet_271835 node EFO_1002028 cicatricial alopecia null http://www.ebi.ac.uk/efo/EFO_1002028 node CL_0000187 muscle cell null http://purl.obolibrary.org/obo/CL_0000187 node CHEBI_29865 benzo(a)pyrene null http://purl.obolibrary.org/obo/CHEBI_29865 node EFO_0008787 Look-Seq null http://www.ebi.ac.uk/efo/EFO_0008787 node Orphanet_261929 Partial deletion of the short arm of chromosome 9 null http://www.orpha.net/ORDO/Orphanet_261929 node EFO_0000407 dilated cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_0000407 node CLO_0013816 GM17196 null http://purl.obolibrary.org/obo/CLO_0013816 node CL_0000346 hair follicle dermal papilla cell Are these really all stem cells? http://purl.obolibrary.org/obo/CL_0000346 node Orphanet_300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation null http://www.orpha.net/ORDO/Orphanet_300751 node CHEBI_22595 arabinonate null http://purl.obolibrary.org/obo/CHEBI_22595 node MONDO_0002273 plasma protein metabolism disease null http://purl.obolibrary.org/obo/MONDO_0002273 node MONDO_0018531 carcinoma of liver and intrahepatic biliary tract Editor note: In uberon intrahepatic bile ducts are part of the liver, so we equate this with carcinoma of liver; we use hepatocellular for the liver proper http://purl.obolibrary.org/obo/MONDO_0018531 node HP_0004691 2-3 toe syndactyly null http://purl.obolibrary.org/obo/HP_0004691 node Orphanet_268940 Bilateral polymicrogyria null http://www.orpha.net/ORDO/Orphanet_268940 node UBERON_6005526 dorsal epidermis primordium null http://purl.obolibrary.org/obo/UBERON_6005526 node Orphanet_250999 1q41q42 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_250999 node EFO_0008688 CIP-TAP null http://www.ebi.ac.uk/efo/EFO_0008688 node UBERON_0005576 rhombomere 4 floor plate null http://purl.obolibrary.org/obo/UBERON_0005576 node EFO_0005302 ChIP-exo null http://www.ebi.ac.uk/efo/EFO_0005302 node EFO_0007044 response to allogeneic hematopoietic stem cell transplant null http://www.ebi.ac.uk/efo/EFO_0007044 node MONDO_0019088 post-transplant lymphoproliferative disease null http://purl.obolibrary.org/obo/MONDO_0019088 node EFO_0008933 SMiLE-seq null http://www.ebi.ac.uk/efo/EFO_0008933 node Orphanet_79147 Familial reactive perforating collagenosis null http://www.orpha.net/ORDO/Orphanet_79147 node EFO_0008299 thrombospondin-2 measurement null http://www.ebi.ac.uk/efo/EFO_0008299 node EFO_0007935 urinary uric acid to creatinine ratio null http://www.ebi.ac.uk/efo/EFO_0007935 node CHEBI_5818 hydroxyzine null http://purl.obolibrary.org/obo/CHEBI_5818 node Orphanet_2272 Ichthyosis - oral and digital anomalies null http://www.orpha.net/ORDO/Orphanet_2272 node Orphanet_467 Non-acquired combined pituitary hormone deficiency null http://www.orpha.net/ORDO/Orphanet_467 node EFO_0007132 acute hemorrhagic leukoencephalitis null http://www.ebi.ac.uk/efo/EFO_0007132 node GO_0043413 macromolecule glycosylation null http://purl.obolibrary.org/obo/GO_0043413 node Orphanet_59306 McLeod neuroacanthocytosis syndrome null http://www.orpha.net/ORDO/Orphanet_59306 node Orphanet_67047 3-methylglutaconic aciduria type 3 null http://www.orpha.net/ORDO/Orphanet_67047 node Orphanet_90103 Charcot-Marie-Tooth disease - deafness - intellectual disability null http://www.orpha.net/ORDO/Orphanet_90103 node EFO_0007542 visna null http://www.ebi.ac.uk/efo/EFO_0007542 node Orphanet_251 Multiple epiphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_251 node CHEBI_39384 lufenuron null http://purl.obolibrary.org/obo/CHEBI_39384 node UO_0000165 volume percent null http://purl.obolibrary.org/obo/UO_0000165 node EFO_0007355 male reproductive organ cancer null http://www.ebi.ac.uk/efo/EFO_0007355 node Orphanet_158673 Acral dystrophic epidermolysis bullosa null http://www.orpha.net/ORDO/Orphanet_158673 node Orphanet_254902 Renal tubulopathy - encephalopathy - liver failure null http://www.orpha.net/ORDO/Orphanet_254902 node Orphanet_69723 Tyrosinemia type 3 null http://www.orpha.net/ORDO/Orphanet_69723 node MONDO_0013877 mitochondrial pyruvate carrier deficiency null http://purl.obolibrary.org/obo/MONDO_0013877 node EFO_0007659 APOE carrier status null http://www.ebi.ac.uk/efo/EFO_0007659 node EFO_0001343 Wistar-Furth null http://www.ebi.ac.uk/efo/EFO_0001343 node UBERON_0001638 vein null http://purl.obolibrary.org/obo/UBERON_0001638 node Orphanet_263355 ATR-X-related syndrome null http://www.orpha.net/ORDO/Orphanet_263355 node MONDO_0007415 mitochondrial complex III deficiency nuclear type 1 null http://purl.obolibrary.org/obo/MONDO_0007415 node NCBITaxon_821 Bacteroides vulgatus null http://purl.obolibrary.org/obo/NCBITaxon_821 node CHEBI_30304 antimony(0) null http://purl.obolibrary.org/obo/CHEBI_30304 node Orphanet_98978 Axenfeld anomaly null http://www.orpha.net/ORDO/Orphanet_98978 node EFO_0002598 obsolete_distal portion of anterior interventricular branch of left coronary artery null http://www.ebi.ac.uk/efo/EFO_0002598 node MONDO_0021009 salivary gland mucoepidermoid carcinoma null http://purl.obolibrary.org/obo/MONDO_0021009 node Orphanet_2338 Isolated punctate palmoplantar keratoderma null http://www.orpha.net/ORDO/Orphanet_2338 node EFO_0009871 increased heart weight null http://www.ebi.ac.uk/efo/EFO_0009871 node HP_0000278 Retrognathia null http://purl.obolibrary.org/obo/HP_0000278 node EFO_0002996 ILSXISS89/TejJ null http://www.ebi.ac.uk/efo/EFO_0002996 node EFO_1000816 aortitis null http://www.ebi.ac.uk/efo/EFO_1000816 node EFO_0007443 placental insufficiency null http://www.ebi.ac.uk/efo/EFO_0007443 node Orphanet_2746 Opsismodysplasia null http://www.orpha.net/ORDO/Orphanet_2746 node Orphanet_276585 Diazoxide-resistant hyperinsulinism null http://www.orpha.net/ORDO/Orphanet_276585 node EFO_0004556 antibody measurement null http://www.ebi.ac.uk/efo/EFO_0004556 node MONDO_0021581 connective tissue neoplasm null http://purl.obolibrary.org/obo/MONDO_0021581 node NCBITaxon_291982 Strombus gigas null http://purl.obolibrary.org/obo/NCBITaxon_291982 node Orphanet_254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form null http://www.orpha.net/ORDO/Orphanet_254803 node GO_0009201 ribonucleoside triphosphate biosynthetic process null http://purl.obolibrary.org/obo/GO_0009201 node CL_0002127 innate effector T cell null http://purl.obolibrary.org/obo/CL_0002127 node EFO_0004379 milli-International Unit per milliliter null http://www.ebi.ac.uk/efo/EFO_0004379 node HP_0100880 Nephrogenic rest Though NR are best known as precursors of Wilms tumor (WT), many alternative fates are observed, and most rests are destined for eventual atresia. Nephroblastomatosis refers to the presence of multifocal or diffuse nephrogenic rests. http://purl.obolibrary.org/obo/HP_0100880 node CL_0002608 hippocampal neuron null http://purl.obolibrary.org/obo/CL_0002608 node Orphanet_725 Continuous spikes and waves during sleep null http://www.orpha.net/ORDO/Orphanet_725 node NCBITaxon_3694 Populus trichocarpa null http://purl.obolibrary.org/obo/NCBITaxon_3694 node EFO_0009224 Hemoglobin S to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009224 node EFO_0002879 YCC16 null http://www.ebi.ac.uk/efo/EFO_0002879 node HP_0005165 Shortened PR interval null http://purl.obolibrary.org/obo/HP_0005165 node HP_0005750 Contractures of the joints of the lower limbs null http://purl.obolibrary.org/obo/HP_0005750 node NCBITaxon_1769 Mycobacterium leprae null http://purl.obolibrary.org/obo/NCBITaxon_1769 node NCBITaxon_220668 Lactobacillus plantarum WCFS1 null http://purl.obolibrary.org/obo/NCBITaxon_220668 node EFO_0000887 obsolete_liver null http://www.ebi.ac.uk/efo/EFO_0000887 node EFO_1000904 drug-Induced dyskinesia null http://www.ebi.ac.uk/efo/EFO_1000904 node Orphanet_538 Lymphangioleiomyomatosis null http://www.orpha.net/ORDO/Orphanet_538 node EFO_0007829 eating behaviour null http://www.ebi.ac.uk/efo/EFO_0007829 node Orphanet_2834 Wrinkly skin syndrome null http://www.orpha.net/ORDO/Orphanet_2834 node Orphanet_263501 COG4-CDG null http://www.orpha.net/ORDO/Orphanet_263501 node EFO_0002921 vulvar carcinoma null http://www.ebi.ac.uk/efo/EFO_0002921 node GO_0019693 ribose phosphate metabolic process null http://purl.obolibrary.org/obo/GO_0019693 node Orphanet_320375 Autosomal recessive spastic paraplegia type 55 null http://www.orpha.net/ORDO/Orphanet_320375 node EFO_0004644 TPE interval measurement null http://www.ebi.ac.uk/efo/EFO_0004644 node HP_0000559 Corneal scarring null http://purl.obolibrary.org/obo/HP_0000559 node CHEBI_65329 LY294002 null http://purl.obolibrary.org/obo/CHEBI_65329 node EFO_0000273 atmosphere null http://www.ebi.ac.uk/efo/EFO_0000273 node CHEBI_33284 nutrient this should become a quality of a material i think http://purl.obolibrary.org/obo/CHEBI_33284 node Orphanet_946 Acrocephalosyndactyly null http://www.orpha.net/ORDO/Orphanet_946 node EFO_1001362 Lung Abscess null http://www.ebi.ac.uk/efo/EFO_1001362 node EFO_1001843 sinoatrial nodal reentry tachycardia null http://www.ebi.ac.uk/efo/EFO_1001843 node EFO_0005792 obsolete_Arabidopsis Growth Stage 6.10 null http://www.ebi.ac.uk/efo/EFO_0005792 node EFO_0004865 thyroid volume null http://www.ebi.ac.uk/efo/EFO_0004865 node CHEBI_107726 sphingomyelin d18:1/24:1 null http://purl.obolibrary.org/obo/CHEBI_107726 node EFO_0009312 proprotein convertase subtilisin/kexin type 9 measurement null http://www.ebi.ac.uk/efo/EFO_0009312 node EFO_0003894 acne null http://www.ebi.ac.uk/efo/EFO_0003894 node EFO_0002967 pluripotent null http://www.ebi.ac.uk/efo/EFO_0002967 node EFO_0000975 obsolete_uterus null http://www.ebi.ac.uk/efo/EFO_0000975 node Orphanet_626 Large congenital melanocytic nevus null http://www.orpha.net/ORDO/Orphanet_626 node Orphanet_1901 Ehlers-Danlos syndrome, dermatosparaxis type null http://www.orpha.net/ORDO/Orphanet_1901 node HP_0001574 Abnormality of the integument Abnormality of skin, hair, or nails. http://purl.obolibrary.org/obo/HP_0001574 node EFO_0000361 obsolete_colon null http://www.ebi.ac.uk/efo/EFO_0000361 node EFO_1001042 mesenchymoma null http://www.ebi.ac.uk/efo/EFO_1001042 node EFO_0005494 obsolete_gonad null http://www.ebi.ac.uk/efo/EFO_0005494 node EFO_1001450 Wolff-Parkinson-White Syndrome null http://www.ebi.ac.uk/efo/EFO_1001450 node EFO_0001166 H720 null http://www.ebi.ac.uk/efo/EFO_0001166 node HP_0012520 Perivascular spaces Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through grey or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences. http://purl.obolibrary.org/obo/HP_0012520 node EFO_0005880 lipid homeostasis null http://www.ebi.ac.uk/efo/EFO_0005880 node EFO_0004953 date of diagnosis null http://www.ebi.ac.uk/efo/EFO_0004953 node EFO_1001263 amniotic fluid embolism null http://www.ebi.ac.uk/efo/EFO_1001263 node MONDO_0015530 trigeminal autonomic cephalalgia null http://purl.obolibrary.org/obo/MONDO_0015530 node EFO_0005693 mobile element identification design Tangram (as indicated in the source definition citation) is one of the softwares that aim to detect MEIs. There may be other available softwares that apply the same principle of MEI identification. http://www.ebi.ac.uk/efo/EFO_0005693 node EFO_0004766 subcutaneous adipose tissue measurement null http://www.ebi.ac.uk/efo/EFO_0004766 node Orphanet_1802 Ghosal hematodiaphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_1802 node MONDO_0021652 diffuse type adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0021652 node EFO_0002207 HuNS1 null http://www.ebi.ac.uk/efo/EFO_0002207 node EFO_0003124 NCI-H520 null http://www.ebi.ac.uk/efo/EFO_0003124 node EFO_1001428 Subacute Combined Degeneration null http://www.ebi.ac.uk/efo/EFO_1001428 node EFO_0009001 Mastocytosis null http://www.ebi.ac.uk/efo/EFO_0009001 node MONDO_0000873 lymphoblastic lymphoma null http://purl.obolibrary.org/obo/MONDO_0000873 node EFO_0006755 SNU-484 null http://www.ebi.ac.uk/efo/EFO_0006755 node GO_0036274 response to lapatinib null http://purl.obolibrary.org/obo/GO_0036274 node HP_0002240 Hepatomegaly null http://purl.obolibrary.org/obo/HP_0002240 node HP_0002035 Rectal prolapse null http://purl.obolibrary.org/obo/HP_0002035 node EFO_0010748 response to zonisamide null http://www.ebi.ac.uk/efo/EFO_0010748 node GO_0030662 coated vesicle membrane null http://purl.obolibrary.org/obo/GO_0030662 node EFO_0004161 finishing sequencing assay null http://www.ebi.ac.uk/efo/EFO_0004161 node EFO_1001516 ovarian serous carcinoma null http://www.ebi.ac.uk/efo/EFO_1001516 node Orphanet_98863 X-linked Emery-Dreifuss muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_98863 node Orphanet_71290 Familial platelet syndrome with predisposition to acute myelogenous leukemia null http://www.orpha.net/ORDO/Orphanet_71290 node EFO_0003035 cellulitis null http://www.ebi.ac.uk/efo/EFO_0003035 node EFO_0002108 ACHN null http://www.ebi.ac.uk/efo/EFO_0002108 node MONDO_0043218 neurovascular disease null http://purl.obolibrary.org/obo/MONDO_0043218 node EFO_1001914 radiation-induced gastrointestinal mucositis null http://www.ebi.ac.uk/efo/EFO_1001914 node Orphanet_98686 Congenital trochlear nerve palsy null http://www.orpha.net/ORDO/Orphanet_98686 node EFO_0006843 infectious disease biomarker null http://www.ebi.ac.uk/efo/EFO_0006843 node MONDO_0030019 anauxetic dysplasia 3 null http://purl.obolibrary.org/obo/MONDO_0030019 node HP_0002123 Generalized myoclonic seizure null http://purl.obolibrary.org/obo/HP_0002123 node EFO_0010355 diacylglycerol 36:2 measurement null http://www.ebi.ac.uk/efo/EFO_0010355 node Orphanet_231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 null http://www.orpha.net/ORDO/Orphanet_231147 node Orphanet_199318 15q13.3 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_199318 node EFO_0010836 GM19025 null http://www.ebi.ac.uk/efo/EFO_0010836 node Orphanet_98951 Inverse Marcus-Gunn phenomenon null http://www.orpha.net/ORDO/Orphanet_98951 node EFO_0004062 NL2099 null http://www.ebi.ac.uk/efo/EFO_0004062 node MONDO_0002742 cervical mucinous adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0002742 node EFO_0010649 immunophenotype null http://www.ebi.ac.uk/efo/EFO_0010649 node Orphanet_98569 Secondary entropion null http://www.orpha.net/ORDO/Orphanet_98569 node HP_0003086 Acromesomelia null http://purl.obolibrary.org/obo/HP_0003086 node HP_0006895 Lower limb hypertonia null http://purl.obolibrary.org/obo/HP_0006895 node MONDO_0054742 combined oxidative phosphorylation deficiency 35 null http://purl.obolibrary.org/obo/MONDO_0054742 node Orphanet_33364 Trichothiodystrophy null http://www.orpha.net/ORDO/Orphanet_33364 node EO_0001004 inorganic chemical treatment null http://purl.obolibrary.org/obo/EO_0001004 node EFO_0007693 Hi-C null http://www.ebi.ac.uk/efo/EFO_0007693 node EFO_0010238 perinatal disease null http://www.ebi.ac.uk/efo/EFO_0010238 node NCBITaxon_10744 Podoviridae null http://purl.obolibrary.org/obo/NCBITaxon_10744 node CHEBI_50249 anticoagulant null http://purl.obolibrary.org/obo/CHEBI_50249 node CL_0000136 fat cell null http://purl.obolibrary.org/obo/CL_0000136 node Orphanet_330054 Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay null http://www.orpha.net/ORDO/Orphanet_330054 node MONDO_0019452 myeloproliferative neoplasm, unclassifiable null http://purl.obolibrary.org/obo/MONDO_0019452 node MONDO_0024677 pancreatic insulinoma Editor note: NCIT definition core part identical to pancreatic insulin-producing neuroendocrine tumor. In mesh this is an adenoma http://purl.obolibrary.org/obo/MONDO_0024677 node PO_0007049 cotyledon emergence stage null http://purl.obolibrary.org/obo/PO_0007049 node HP_0007141 Sensorimotor neuropathy null http://purl.obolibrary.org/obo/HP_0007141 node EFO_0007046 executive function null http://www.ebi.ac.uk/efo/EFO_0007046 node MONDO_0021089 peripheral nervous system cancer null http://purl.obolibrary.org/obo/MONDO_0021089 node HP_0410204 Increased intestinal transit time null http://purl.obolibrary.org/obo/HP_0410204 node MONDO_0002912 brainstem cancer null http://purl.obolibrary.org/obo/MONDO_0002912 node Orphanet_91492 Non-syndromic congenital cataract null http://www.orpha.net/ORDO/Orphanet_91492 node CL_0000037 hematopoietic stem cell Markers differ between species, and two sets of markers have been described for mice. HSCs are reportedly CD34-positive, CD45-positive, CD48-negative, CD150-positive, CD133-positive, and CD244-negative. http://purl.obolibrary.org/obo/CL_0000037 node EFO_0007229 cryptococcosis null http://www.ebi.ac.uk/efo/EFO_0007229 node UBERON_0004117 pharyngeal pouch The pouches are polarized structures. For example, whereas the rostral half of each pouch expresses Bmp-7, the caudal half expresses FGF-8 and the dorsal aspect of each pouch is marked via its expression of Pax-1. each pouch has an individual sense of identity. Shh expression is a prominent early feature of the caudal endoderm of the second arch, and individual pouches mark the anterior limits of expression of Hox genes within the pharyngeal endoderm; Hox-a2 has a rostral boundary at the second pouch, Hox-a3 at the third pouch and Hox-a4 at the most caudal pouch[PMID:16313389] http://purl.obolibrary.org/obo/UBERON_0004117 node Orphanet_365563 Primary short bowel syndrome null http://www.orpha.net/ORDO/Orphanet_365563 node Orphanet_293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form null http://www.orpha.net/ORDO/Orphanet_293888 node EFO_0007134 adenosarcoma null http://www.ebi.ac.uk/efo/EFO_0007134 node EFO_0002687 ischemia reperfusion injury null http://www.ebi.ac.uk/efo/EFO_0002687 node CHEBI_133725 1-methylurate anion null http://purl.obolibrary.org/obo/CHEBI_133725 node MONDO_0054860 deafness, autosomal recessive 110 null http://purl.obolibrary.org/obo/MONDO_0054860 node MONDO_0013656 intellectual disability, autosomal dominant 9 null http://purl.obolibrary.org/obo/MONDO_0013656 node EFO_0006479 RT-112 null http://www.ebi.ac.uk/efo/EFO_0006479 node MONDO_0020669 paranasal sinus cancer null http://purl.obolibrary.org/obo/MONDO_0020669 node NCBITaxon_600 Salmonella enterica subsp. enterica serovar Thompson null http://purl.obolibrary.org/obo/NCBITaxon_600 node CL_0002023 CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell Markers are associated with human cell type. http://purl.obolibrary.org/obo/CL_0002023 node MONDO_0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities null http://purl.obolibrary.org/obo/MONDO_0032697 node MONDO_0002813 lipomatous cancer null http://purl.obolibrary.org/obo/MONDO_0002813 node Orphanet_2911 Poland syndrome null http://www.orpha.net/ORDO/Orphanet_2911 node UBERON_0001174 common bile duct null http://purl.obolibrary.org/obo/UBERON_0001174 node Orphanet_280229 Pelizaeus-Merzbacher disease in female carriers null http://www.orpha.net/ORDO/Orphanet_280229 node EFO_1001996 Thalassemia null http://www.ebi.ac.uk/efo/EFO_1001996 node EFO_0002775 aorta smooth muscle null http://www.ebi.ac.uk/efo/EFO_0002775 node NCBITaxon_44689 Dictyostelium discoideum null http://purl.obolibrary.org/obo/NCBITaxon_44689 node GO_1901566 organonitrogen compound biosynthetic process null http://purl.obolibrary.org/obo/GO_1901566 node EFO_0003617 obsolete_rhombomere null http://www.ebi.ac.uk/efo/EFO_0003617 node MONDO_0000152 thiamine-responsive dysfunction syndrome null http://purl.obolibrary.org/obo/MONDO_0000152 node MONDO_0002427 cerebellar disease null http://purl.obolibrary.org/obo/MONDO_0002427 node Orphanet_229 Familial aortic dissection null http://www.orpha.net/ORDO/Orphanet_229 node HP_0000455 Broad nasal tip Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term. http://purl.obolibrary.org/obo/HP_0000455 node Orphanet_3289 Taurodontism null http://www.orpha.net/ORDO/Orphanet_3289 node EFO_0009392 glucose metabolism decline measurement null http://www.ebi.ac.uk/efo/EFO_0009392 node NCBITaxon_12538 Mokola virus null http://purl.obolibrary.org/obo/NCBITaxon_12538 node EFO_0009873 decreased cardiac output null http://www.ebi.ac.uk/efo/EFO_0009873 node Orphanet_247582 Citrin deficiency null http://www.orpha.net/ORDO/Orphanet_247582 node Orphanet_309239 Tay-Sachs disease, B1 variant null http://www.orpha.net/ORDO/Orphanet_309239 node PO_0009006 shoot system The shoot system is generally used to refer to the above-ground plant parts, although some plants have parts of their shoot system underground. For example, a rhizome (PO:0004542), bulb (PO:0025356), a corm (PO:0025355) or a subterranean tuber (PO:0004547), as in Solanum tuberosum (potato) or yam, are all part of the shoot system. http://purl.obolibrary.org/obo/PO_0009006 node EFO_0008712 DLAF null http://www.ebi.ac.uk/efo/EFO_0008712 node NCBITaxon_309358 Saccharina latissima null http://purl.obolibrary.org/obo/NCBITaxon_309358 node Orphanet_317 Erythrokeratodermia variabilis null http://www.orpha.net/ORDO/Orphanet_317 node NCBITaxon_13686 Solenopsis invicta null http://purl.obolibrary.org/obo/NCBITaxon_13686 node Orphanet_281244 Autosomal ichthyosis syndrome with other associated signs null http://www.orpha.net/ORDO/Orphanet_281244 node Orphanet_221043 Hereditary sclerosing poikiloderma with tendon and pulmonary involvement null http://www.orpha.net/ORDO/Orphanet_221043 node EFO_0007608 T1080 null http://www.ebi.ac.uk/efo/EFO_0007608 node EFO_0003705 obsolete_posterior lateral plate mesoderm null http://www.ebi.ac.uk/efo/EFO_0003705 node EFO_0001911 obsolete_caudal ganglionic eminence null http://www.ebi.ac.uk/efo/EFO_0001911 node CHEBI_84573 1-hexadecanoyl-2-[(7Z,10Z,13Z,16Z)-docosatetraenoyl]-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_84573 node PO_0025355 corm null http://purl.obolibrary.org/obo/PO_0025355 node EFO_0008525 spinal muscular atrophy null http://www.ebi.ac.uk/efo/EFO_0008525 node HP_0000062 Ambiguous genitalia Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome. http://purl.obolibrary.org/obo/HP_0000062 node Orphanet_93616 Hemoglobin H disease null http://www.orpha.net/ORDO/Orphanet_93616 node Orphanet_156005 Primary glaucoma null http://www.orpha.net/ORDO/Orphanet_156005 node NCBITaxon_3696 Populus deltoides null http://purl.obolibrary.org/obo/NCBITaxon_3696 node Orphanet_3377 Trismus - pseudocamptodactyly null http://www.orpha.net/ORDO/Orphanet_3377 node Orphanet_93970 Holmes-Gang syndrome Editor note: check GARD assignment http://www.orpha.net/ORDO/Orphanet_93970 node EFO_0005185 terminal ileum null http://www.ebi.ac.uk/efo/EFO_0005185 node Orphanet_41 Dyschromatosis symmetrica hereditaria null http://www.orpha.net/ORDO/Orphanet_41 node NCBITaxon_265606 Rhodopirellula baltica null http://purl.obolibrary.org/obo/NCBITaxon_265606 node Orphanet_178333 Åland Islands eye disease null http://www.orpha.net/ORDO/Orphanet_178333 node EFO_1000663 acquired keratosis null http://www.ebi.ac.uk/efo/EFO_1000663 node EFO_0009562 polyneuropathy null http://www.ebi.ac.uk/efo/EFO_0009562 node EFO_0008613 pemphigus vegetans null http://www.ebi.ac.uk/efo/EFO_0008613 node NCBITaxon_326028 Geranium dissectum null http://purl.obolibrary.org/obo/NCBITaxon_326028 node MONDO_0021343 carcinoma of floor of mouth null http://purl.obolibrary.org/obo/MONDO_0021343 node Orphanet_169 Ringed hair disease null http://www.orpha.net/ORDO/Orphanet_169 node EFO_0002071 LNCAP null http://www.ebi.ac.uk/efo/EFO_0002071 node Orphanet_108963 Non-syndromic gastroduodenal malformation null http://www.orpha.net/ORDO/Orphanet_108963 node Orphanet_100094 Multiple polyglandular tumor Editor note: ORDO classifies as inherited but there are non-inherited forms such as Carney triad http://www.orpha.net/ORDO/Orphanet_100094 node EFO_0000836 obsolete_pharynx structure null http://www.ebi.ac.uk/efo/EFO_0000836 node MONDO_0018744 oligodendroglial tumor null http://purl.obolibrary.org/obo/MONDO_0018744 node NCBITaxon_594 Salmonella enterica subsp. enterica serovar Gallinarum null http://purl.obolibrary.org/obo/NCBITaxon_594 node EFO_1000270 Gastric Diffuse Large B-Cell Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000270 node EFO_1000751 obsolete_photoallergic dermatitis null http://www.ebi.ac.uk/efo/EFO_1000751 node EFO_0009650 hyperproinsulinemia null http://www.ebi.ac.uk/efo/EFO_0009650 node EFO_0000222 acute myeloid leukemia null http://www.ebi.ac.uk/efo/EFO_0000222 node EFO_0005496 Caenorhabditis component null http://www.ebi.ac.uk/efo/EFO_0005496 node EFO_0005333 GM08714 null http://www.ebi.ac.uk/efo/EFO_0005333 node EFO_0000035 CS57618 null http://www.ebi.ac.uk/efo/EFO_0000035 node EFO_0006920 BNP measurement null http://www.ebi.ac.uk/efo/EFO_0006920 node EFO_0010439 triacylglycerol 58:12 measurement null http://www.ebi.ac.uk/efo/EFO_0010439 node EFO_0004229 Dupuytren Contracture null http://www.ebi.ac.uk/efo/EFO_0004229 node EFO_0001027 obsolete_tepal null http://www.ebi.ac.uk/efo/EFO_0001027 node MONDO_0004251 small intestine neoplasm null http://purl.obolibrary.org/obo/MONDO_0004251 node EFO_0000443 obsolete_embryonic central brain mushroom body null http://www.ebi.ac.uk/efo/EFO_0000443 node MONDO_0000171 muscular dystrophy-dystroglycanopathy, type A null http://purl.obolibrary.org/obo/MONDO_0000171 node EFO_0000924 obsolete_medulla oblongata null http://www.ebi.ac.uk/efo/EFO_0000924 node NCBITaxon_431317 Triticum mosaic virus null http://purl.obolibrary.org/obo/NCBITaxon_431317 node Orphanet_1345 Cardiomyopathy - cataract - hip spine disease null http://www.orpha.net/ORDO/Orphanet_1345 node Orphanet_2168 Homocarnosinosis null http://www.orpha.net/ORDO/Orphanet_2168 node EFO_0010913 eosinophil cationic protein measurement null http://www.ebi.ac.uk/efo/EFO_0010913 node CL_0000811 CD8-positive, alpha-beta thymocyte null http://purl.obolibrary.org/obo/CL_0000811 node EFO_0005421 serum homoarginine measurement null http://www.ebi.ac.uk/efo/EFO_0005421 node EFO_0000123 CS57807 null http://www.ebi.ac.uk/efo/EFO_0000123 node EFO_0010046 TAm-Seq null http://www.ebi.ac.uk/efo/EFO_0010046 node EFO_0001115 GM07345 null http://www.ebi.ac.uk/efo/EFO_0001115 node Orphanet_85442 Short stature - pituitary and cerebellar defects - small sella turcica null http://www.orpha.net/ORDO/Orphanet_85442 node MONDO_0000734 Ohdo syndrome and variants null http://purl.obolibrary.org/obo/MONDO_0000734 node EFO_0005234 PFSK-1 null http://www.ebi.ac.uk/efo/EFO_0005234 node UBERON_0005527 rhombomere 8 null http://purl.obolibrary.org/obo/UBERON_0005527 node EFO_1001212 thyroid crisis null http://www.ebi.ac.uk/efo/EFO_1001212 node Orphanet_280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation null http://www.orpha.net/ORDO/Orphanet_280282 node Orphanet_1433 Choroidal atrophy - alopecia null http://www.orpha.net/ORDO/Orphanet_1433 node EFO_0005642 ATC Code M Musculo-skeletal system M MUSCULO-SKELETAL SYSTEM M01 ANTIINFLAMMATORY AND ANTIRHEUMATIC PRODUCTS M02 TOPICAL PRODUCTS FOR JOINT AND MUSCULAR PAIN M03 MUSCLE RELAXANTS This group comprises peripherally, centrally and directly acting muscle relaxants. See also G04BD - Drugs for urinary frequency and incontinence. M04 ANTIGOUT PREPARATIONS M05 DRUGS FOR TREATMENT OF BONE DISEASES Drugs used for the treatment of bone diseases, see also: A11CC - Vitamin D and analogues A12A - Calcium A12AX - Calcium, combinations with vitamin D and/or other drugs A12CD - Fluoride G03C/G03F - Estrogens/Progestogens and estrogens in combination H05BA - Calcitonins M09 OTHER DRUGS FOR DISORDERS OF THE MUSCULO-SKELETAL SYSTEM http://www.ebi.ac.uk/efo/EFO_0005642 node EFO_0004715 MRI defined brain infarct This term represents a finding not a disease, it may be obsoleted in future http://www.ebi.ac.uk/efo/EFO_0004715 node Orphanet_85184 Craniometadiaphyseal dysplasia, wormian bone type OMIM obsoleted 615118 and moved this to 269300 then renamed 269300 to what 615118 was called and did not retain as a synonym the old name of 269300. I merged these and swapped the name and synonym to retain the information - smb. http://www.orpha.net/ORDO/Orphanet_85184 node MONDO_0017705 congenital pulmonary venous return anomaly null http://purl.obolibrary.org/obo/MONDO_0017705 node NCBITaxon_5480 Candida parapsilosis null http://purl.obolibrary.org/obo/NCBITaxon_5480 node Orphanet_295049 Upper limb hypertrophy null http://www.orpha.net/ORDO/Orphanet_295049 node EFO_0010134 kidney transplant null http://www.ebi.ac.uk/efo/EFO_0010134 node EFO_1000682 conjunctival pigmentation null http://www.ebi.ac.uk/efo/EFO_1000682 node EFO_1001300 Cryptogenic Organizing Pneumonia null http://www.ebi.ac.uk/efo/EFO_1001300 node EFO_1002040 Corneal astigmatism null http://www.ebi.ac.uk/efo/EFO_1002040 node Orphanet_280183 Methylmalonic aciduria due to transcobalamin receptor defect null http://www.orpha.net/ORDO/Orphanet_280183 node CHEBI_4031 cyclosporin A null http://purl.obolibrary.org/obo/CHEBI_4031 node GO_0009414 response to water deprivation null http://purl.obolibrary.org/obo/GO_0009414 node NCBITaxon_36470 Streptococcus sp. 'group A' null http://purl.obolibrary.org/obo/NCBITaxon_36470 node EFO_1000770 stromal corneal pigmentation null http://www.ebi.ac.uk/efo/EFO_1000770 node MONDO_0003987 lung lymphoma null http://purl.obolibrary.org/obo/MONDO_0003987 node UBERON_0001193 hepatic artery null http://purl.obolibrary.org/obo/UBERON_0001193 node EFO_0007695 Danio rerio larval stage null http://www.ebi.ac.uk/efo/EFO_0007695 node Orphanet_2639 Fibular aplasia - complex brachydactyly null http://www.orpha.net/ORDO/Orphanet_2639 node Orphanet_220489 Rare hereditary hemochromatosis null http://www.orpha.net/ORDO/Orphanet_220489 node MONDO_0021254 corpus uteri neoplasm null http://purl.obolibrary.org/obo/MONDO_0021254 node NCBITaxon_511693 Escherichia coli BL21 null http://purl.obolibrary.org/obo/NCBITaxon_511693 node CHEBI_22605 arabitol null http://purl.obolibrary.org/obo/CHEBI_22605 node EFO_0002631 obsolete_arrhythmogenic right ventricular cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_0002631 node Orphanet_280569 Rapidly progressive glomerulonephritis null http://www.orpha.net/ORDO/Orphanet_280569 node EFO_0006534 AMO-1 null http://www.ebi.ac.uk/efo/EFO_0006534 node Orphanet_207028 Cerebellar ataxia with peripheral neuropathy null http://www.orpha.net/ORDO/Orphanet_207028 node Orphanet_401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome null http://www.orpha.net/ORDO/Orphanet_401959 node EFO_0002454 obsolete_hippocampus CA1 null http://www.ebi.ac.uk/efo/EFO_0002454 node EFO_0007296 hantavirus pulmonary syndrome null http://www.ebi.ac.uk/efo/EFO_0007296 node HP_0000311 Round face null http://purl.obolibrary.org/obo/HP_0000311 node NCBITaxon_74649 Rosa chinensis null http://purl.obolibrary.org/obo/NCBITaxon_74649 node CL_0002428 double-positive blast null http://purl.obolibrary.org/obo/CL_0002428 node MONDO_0003594 mixed liposarcoma null http://purl.obolibrary.org/obo/MONDO_0003594 node EFO_0002852 RERF-LC-MS null http://www.ebi.ac.uk/efo/EFO_0002852 node UBERON_0001281 hepatic sinusoid null http://purl.obolibrary.org/obo/UBERON_0001281 node Orphanet_369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome null http://www.orpha.net/ORDO/Orphanet_369847 node CHEBI_31228 apomorphine hydrochloride null http://purl.obolibrary.org/obo/CHEBI_31228 node EFO_1000969 hyperamylasemia null http://www.ebi.ac.uk/efo/EFO_1000969 node MONDO_0019202 myxofibrosarcoma null http://purl.obolibrary.org/obo/MONDO_0019202 node MONDO_0002914 childhood brain stem neoplasm null http://purl.obolibrary.org/obo/MONDO_0002914 node Orphanet_839 Congenital nephrotic syndrome, Finnish type null http://www.orpha.net/ORDO/Orphanet_839 node Orphanet_280 Wolf-Hirschhorn syndrome null http://www.orpha.net/ORDO/Orphanet_280 node EFO_1000898 diaphragmatic eventration null http://www.ebi.ac.uk/efo/EFO_1000898 node MONDO_0015937 rare inflammatory eye disease null http://purl.obolibrary.org/obo/MONDO_0015937 node EFO_0007384 muscle cancer null http://www.ebi.ac.uk/efo/EFO_0007384 node NCBITaxon_10506 Paramecium bursaria Chlorella virus 1 null http://purl.obolibrary.org/obo/NCBITaxon_10506 node EFO_0008431 maximal voluntary ventilation null http://www.ebi.ac.uk/efo/EFO_0008431 node Orphanet_208441 Bilateral parasagittal parieto-occipital polymicrogyria null http://www.orpha.net/ORDO/Orphanet_208441 node EFO_0002940 zebrafish cell line null http://www.ebi.ac.uk/efo/EFO_0002940 node NCBITaxon_1625 Lactobacillus sanfranciscensis null http://purl.obolibrary.org/obo/NCBITaxon_1625 node Orphanet_87503 Mal de Meleda null http://www.orpha.net/ORDO/Orphanet_87503 node EFO_0000790 obsolete_adipose tissue null http://www.ebi.ac.uk/efo/EFO_0000790 node MONDO_0009348 classic Hodgkin lymphoma null http://purl.obolibrary.org/obo/MONDO_0009348 node EFO_1001294 lymphocytic colitis null http://www.ebi.ac.uk/efo/EFO_1001294 node Orphanet_275543 L1 syndrome null http://www.orpha.net/ORDO/Orphanet_275543 node GO_0019867 outer membrane null http://purl.obolibrary.org/obo/GO_0019867 node PO_0007604 corolla development stage null http://purl.obolibrary.org/obo/PO_0007604 node EFO_0007472 rickettsial pneumonia null http://www.ebi.ac.uk/efo/EFO_0007472 node EFO_0002918 rhabdomyosarcoma null http://www.ebi.ac.uk/efo/EFO_0002918 node Orphanet_3068 Intellectual disability - myopathy - short stature - endocrine defect null http://www.orpha.net/ORDO/Orphanet_3068 node EFO_0003155 obsolete_British null http://www.ebi.ac.uk/efo/EFO_0003155 node NCBITaxon_568703 Lactobacillus rhamnosus GG null http://purl.obolibrary.org/obo/NCBITaxon_568703 node UBERON_0000061 anatomical structure null http://purl.obolibrary.org/obo/UBERON_0000061 node Orphanet_1094 Anonychia - microcephaly null http://www.orpha.net/ORDO/Orphanet_1094 node EFO_1001359 Leukocyte-Adhesion Deficiency Syndrome null http://www.ebi.ac.uk/efo/EFO_1001359 node Orphanet_295245 Macrodactyly of toes, bilateral null http://www.orpha.net/ORDO/Orphanet_295245 node Orphanet_139399 Adrenomyeloneuropathy null http://www.orpha.net/ORDO/Orphanet_139399 node MONDO_0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities null http://purl.obolibrary.org/obo/MONDO_0044312 node MONDO_0060555 vertebral, cardiac, renal, and limb defects syndrome 2 null http://purl.obolibrary.org/obo/MONDO_0060555 node EFO_1001401 Pneumovirus Infections null http://www.ebi.ac.uk/efo/EFO_1001401 node HP_0007754 Macular dystrophy null http://purl.obolibrary.org/obo/HP_0007754 node EFO_0009253 Immature Reticulocyte Fraction Measurement null http://www.ebi.ac.uk/efo/EFO_0009253 node EFO_0005350 GM19099 null http://www.ebi.ac.uk/efo/EFO_0005350 node EFO_0004904 obsolete_hereditary genetic disorder null http://www.ebi.ac.uk/efo/EFO_0004904 node EFO_0002525 obsolete_thoracic aorta null http://www.ebi.ac.uk/efo/EFO_0002525 node Orphanet_93284 Spondyloepiphyseal dysplasia tarda null http://www.orpha.net/ORDO/Orphanet_93284 node CLO_0013942 GM17146 null http://purl.obolibrary.org/obo/CLO_0013942 node EFO_0009066 clcn4-related disorder null http://www.ebi.ac.uk/efo/EFO_0009066 node MONDO_0007788 hypertriglyceridemia, familial null http://purl.obolibrary.org/obo/MONDO_0007788 node MONDO_0016712 classic medulloblastoma null http://purl.obolibrary.org/obo/MONDO_0016712 node Orphanet_247262 Hyperphosphatasia-intellectual disability syndrome null http://www.orpha.net/ORDO/Orphanet_247262 node EFO_1001447 Vaginal neoplasm Editor note: we place the oncotree class here for consistency of placing of child classes, although it represents both vagina and vulva http://www.ebi.ac.uk/efo/EFO_1001447 node Orphanet_293925 Lethal occipital encephalocele-skeletal dysplasia syndrome null http://www.orpha.net/ORDO/Orphanet_293925 node Orphanet_295128 Brachydactyly of fingers, unilateral null http://www.orpha.net/ORDO/Orphanet_295128 node EFO_0005877 embryonic stage 17 Temporal ordering number - 390. http://www.ebi.ac.uk/efo/EFO_0005877 node GO_0030430 host cell cytoplasm null http://purl.obolibrary.org/obo/GO_0030430 node EFO_0010497 hydroxide measurement null http://www.ebi.ac.uk/efo/EFO_0010497 node EFO_0003464 obsolete_anterior pancreatic bud null http://www.ebi.ac.uk/efo/EFO_0003464 node EFO_0004306 erythrocyte indices null http://www.ebi.ac.uk/efo/EFO_0004306 node FBbt_00000444 anterior midgut primordium This primordium may be temporally subdivided into the inclusive anterior midgut primordium, including adult midgut progenitors and the anterior midgut primordium proper, which contains only progenitors of the embryonic/larval midgut. However, the primordium proper exists only briefly during stage 12 and so we have chosen not to represent it in this ontology. Please use 'anterior midgut primordium' for both cases. Note, there is some controversy surrounding the account of anterior midgut development given in this definition. See Foe, 1989 and notes on this paper in Campos-Ortega and Hartenstein, 1997, pg 151-152). http://purl.obolibrary.org/obo/FBbt_00000444 node EFO_0005187 C-peptide measurement null http://www.ebi.ac.uk/efo/EFO_0005187 node Orphanet_231178 Usher syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_231178 node Orphanet_1884 Ectopia lentis - chorioretinal dystrophy - myopia null http://www.orpha.net/ORDO/Orphanet_1884 node EFO_0009154 hemophilia b leyden null http://www.ebi.ac.uk/efo/EFO_0009154 node Orphanet_28455 Pancreatic beta cell agenesis with neonatal diabetes mellitus null http://www.orpha.net/ORDO/Orphanet_28455 node EFO_0010199 UMI barcode null http://www.ebi.ac.uk/efo/EFO_0010199 node CHEBI_30089 acetate null http://purl.obolibrary.org/obo/CHEBI_30089 node EFO_0006939 cup-to-disc ratio measurement null http://www.ebi.ac.uk/efo/EFO_0006939 node EFO_0004093 CB4858 null http://www.ebi.ac.uk/efo/EFO_0004093 node Orphanet_206580 Autosomal recessive lower motor neuron disease with childhood onset null http://www.orpha.net/ORDO/Orphanet_206580 node EFO_0007884 functional microbiome measurement null http://www.ebi.ac.uk/efo/EFO_0007884 node HP_0009623 Proximal placement of thumb Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. http://purl.obolibrary.org/obo/HP_0009623 node EFO_0003552 obsolete_ectopterygoid null http://www.ebi.ac.uk/efo/EFO_0003552 node CLO_0015121 GM17124 null http://purl.obolibrary.org/obo/CLO_0015121 node CHEBI_15676 allantoin null http://purl.obolibrary.org/obo/CHEBI_15676 node Orphanet_261311 20q13.33 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261311 node PO_0020121 lateral root A lateral root primordium may develops on any root, including a primary root (PO:0020127), on an existing lateral root (PO:0020121), or a shoot-borne root (PO:0000042). In seed plants, a lateral root primordium generally develops from pericycle cells (PO:0025261), but cells of an endodermis (PO:0000252) may also participate in its formation in some species. In ferns, lateral root primordia develop from the endodermis. http://purl.obolibrary.org/obo/PO_0020121 node HP_0008873 Disproportionate short-limb short stature A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionatley affected. Note that brachymelia is a general term refering to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs). http://purl.obolibrary.org/obo/HP_0008873 node EFO_0007944 allergen exposure measurement null http://www.ebi.ac.uk/efo/EFO_0007944 node Orphanet_79083 Familial partial lipodystrophy associated with PPARG mutations null http://www.orpha.net/ORDO/Orphanet_79083 node EFO_0010211 sample barcode offset null http://www.ebi.ac.uk/efo/EFO_0010211 node EFO_0007767 response to calcium channel blocker null http://www.ebi.ac.uk/efo/EFO_0007767 node MONDO_0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive null http://purl.obolibrary.org/obo/MONDO_0044206 node GO_0006486 protein glycosylation null http://purl.obolibrary.org/obo/GO_0006486 node MONDO_0045033 opportunistic systemic mycosis null http://purl.obolibrary.org/obo/MONDO_0045033 node CHEBI_27732 caffeine null http://purl.obolibrary.org/obo/CHEBI_27732 node EFO_0009930 Calcium channel blocker use measurement null http://www.ebi.ac.uk/efo/EFO_0009930 node IDO_0000450 pathogenicity null http://purl.obolibrary.org/obo/IDO_0000450 node Orphanet_99875 Ehlers-Danlos syndrome type 7A null http://www.orpha.net/ORDO/Orphanet_99875 node EFO_0008981 VDJ-Seq null http://www.ebi.ac.uk/efo/EFO_0008981 node EFO_0008794 MARDI null http://www.ebi.ac.uk/efo/EFO_0008794 node Orphanet_2903 Familial spontaneous pneumothorax null http://www.orpha.net/ORDO/Orphanet_2903 node Orphanet_171201 High anorectal malformation null http://www.orpha.net/ORDO/Orphanet_171201 node MONDO_0030048 harderoporphyria null http://purl.obolibrary.org/obo/MONDO_0030048 node CL_0000010 cultured cell Note that this class was re-labeled to 'cultured cell' instead of 'cell line cell', as it intent was clarified to cover any cultured cells of multicellular and unicellular organisms. This includes cells actively being cultured, or cells that have been cultured but are stored in a quiescent state for future use. In having been cultured, cells must establish homeostasis and often replicate in a foreign environment. Accomodation of this stress initiates a selection of cells fit for such challenges, wherein necessary adaptive biochemical and.or genetic changes can occur. These changes can set them apart from the in vivo cells from which they derive, and such changes will typically accumulate and change over increasing time in culture. http://purl.obolibrary.org/obo/CL_0000010 node MONDO_0023691 maple syrup urine disease type 1A null http://purl.obolibrary.org/obo/MONDO_0023691 node Orphanet_2716 Oculo-skeletal-renal syndrome null http://www.orpha.net/ORDO/Orphanet_2716 node Orphanet_79394 Congenital non-bullous ichthyosiform erythroderma null http://www.orpha.net/ORDO/Orphanet_79394 node GO_0005929 cilium null http://purl.obolibrary.org/obo/GO_0005929 node CLO_0016498 GM17805 null http://purl.obolibrary.org/obo/CLO_0016498 node CHEBI_7438 N-methylformamide null http://purl.obolibrary.org/obo/CHEBI_7438 node UBERON_0000949 endocrine system null http://purl.obolibrary.org/obo/UBERON_0000949 node MONDO_0000414 childhood electroclinical syndrome null http://purl.obolibrary.org/obo/MONDO_0000414 node UBERON_0001846 internal ear null http://purl.obolibrary.org/obo/UBERON_0001846 node EFO_0008882 RARseq null http://www.ebi.ac.uk/efo/EFO_0008882 node EFO_0009678 paralytic strabismus null http://www.ebi.ac.uk/efo/EFO_0009678 node MONDO_0000824 congenital diarrhea null http://purl.obolibrary.org/obo/MONDO_0000824 node NCBITaxon_358574 uncultured microorganism null http://purl.obolibrary.org/obo/NCBITaxon_358574 node Orphanet_2804 W syndrome null http://www.orpha.net/ORDO/Orphanet_2804 node CHEBI_60815 lysobisphosphatidic acid null http://purl.obolibrary.org/obo/CHEBI_60815 node MONDO_0000637 musculoskeletal system cancer null http://purl.obolibrary.org/obo/MONDO_0000637 node EFO_0008034 beta-endorphin measurement null http://www.ebi.ac.uk/efo/EFO_0008034 node CL_0002119 CD38-positive IgG-negative class switched memory B cell null http://purl.obolibrary.org/obo/CL_0002119 node Orphanet_3041 Intellectual disability - balding - patella luxation - acromicria null http://www.orpha.net/ORDO/Orphanet_3041 node GO_0009161 ribonucleoside monophosphate metabolic process null http://purl.obolibrary.org/obo/GO_0009161 node Orphanet_91489 Isolated congenital megalocornea null http://www.orpha.net/ORDO/Orphanet_91489 node UBERON_0000473 testis null http://purl.obolibrary.org/obo/UBERON_0000473 node HP_0000960 Sacral dimple null http://purl.obolibrary.org/obo/HP_0000960 node CHEBI_24809 indole-3-carboxylic acid null http://purl.obolibrary.org/obo/CHEBI_24809 node EFO_0008738 FAST-SeqS null http://www.ebi.ac.uk/efo/EFO_0008738 node Orphanet_399877 Female infertility due to gonadal dysgenesis null http://www.orpha.net/ORDO/Orphanet_399877 node EFO_0008122 eotaxin measurement null http://www.ebi.ac.uk/efo/EFO_0008122 node EFO_0007075 ES-E14 null http://www.ebi.ac.uk/efo/EFO_0007075 node EFO_0003172 pleiotrophin null http://www.ebi.ac.uk/efo/EFO_0003172 node CLO_0031256 GM14455 null http://purl.obolibrary.org/obo/CLO_0031256 node GO_0044403 symbiosis, encompassing mutualism through parasitism null http://purl.obolibrary.org/obo/GO_0044403 node EFO_1001371 Mixed Tumor, Mesodermal null http://www.ebi.ac.uk/efo/EFO_1001371 node UBERON_0000080 mesonephros null http://purl.obolibrary.org/obo/UBERON_0000080 node EFO_1001852 Stomach Volvulus null http://www.ebi.ac.uk/efo/EFO_1001852 node Orphanet_101011 Autosomal dominant spastic paraplegia type 31 null http://www.orpha.net/ORDO/Orphanet_101011 node GO_0044707 single-multicellular organism process null http://purl.obolibrary.org/obo/GO_0044707 node UBERON_0005306 blastema null http://purl.obolibrary.org/obo/UBERON_0005306 node EFO_1000196 Colorectal Serrated Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000196 node EFO_0010470 carnosine measurement null http://www.ebi.ac.uk/efo/EFO_0010470 node EFO_0001976 obsolete_oropharynx null http://www.ebi.ac.uk/efo/EFO_0001976 node EFO_0008826 NET-Seq null http://www.ebi.ac.uk/efo/EFO_0008826 node Orphanet_209905 Brain-lung-thyroid syndrome null http://www.orpha.net/ORDO/Orphanet_209905 node EFO_0003699 obsolete_ventral wall of dorsal aorta null http://www.ebi.ac.uk/efo/EFO_0003699 node EFO_0001286 cleavage 32-cell null http://www.ebi.ac.uk/efo/EFO_0001286 node EFO_0010293 choroid plexus volume measurement null http://www.ebi.ac.uk/efo/EFO_0010293 node EFO_0002128 CCRFCEM null http://www.ebi.ac.uk/efo/EFO_0002128 node EFO_0008210 low affinity immunoglobulin epsilon Fc receptor measurement null http://www.ebi.ac.uk/efo/EFO_0008210 node EFO_0002609 juvenile idiopathic arthritis null http://www.ebi.ac.uk/efo/EFO_0002609 node FBbt_00005619 embryonic labial sensory complex null http://purl.obolibrary.org/obo/FBbt_00005619 node Orphanet_972 Hereditary continuous muscle fiber activity null http://www.orpha.net/ORDO/Orphanet_972 node CHEBI_39026 low-density lipoprotein null http://purl.obolibrary.org/obo/CHEBI_39026 node EFO_1001940 basaloid squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_1001940 node Orphanet_3328 Absent tibia - polydactyly - arachnoid cyst null http://www.orpha.net/ORDO/Orphanet_3328 node Orphanet_371047 Congenital disorder of glycosylation with neurological involvement null http://www.orpha.net/ORDO/Orphanet_371047 node Orphanet_3233 Cochleosaccular degeneration - cataract null http://www.orpha.net/ORDO/Orphanet_3233 node EFO_0008433 pursuit maintenance gain measurement null http://www.ebi.ac.uk/efo/EFO_0008433 node NCBITaxon_510516 Aspergillus oryzae RIB40 null http://purl.obolibrary.org/obo/NCBITaxon_510516 node MONDO_0002312 opportunistic mycosis null http://purl.obolibrary.org/obo/MONDO_0002312 node UBERON_0001259 mucosa of urinary bladder null http://purl.obolibrary.org/obo/UBERON_0001259 node EFO_0008228 mediator of RNA polymerase II transcription subunit 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008228 node GO_0008150 biological process Note that, in addition to forming the root of the biological process ontology, this term is recommended for use for the annotation of gene products whose biological process is unknown. Note that when this term is used for annotation, it indicates that no information was available about the biological process of the gene product annotated as of the date the annotation was made; the evidence code ND, no data, is used to indicate this. http://purl.obolibrary.org/obo/GO_0008150 node Orphanet_103910 Congenital enterocyte heparan sulfate deficiency null http://www.orpha.net/ORDO/Orphanet_103910 node EFO_0008709 Digenome-seq null http://www.ebi.ac.uk/efo/EFO_0008709 node MONDO_0002135 optic nerve disease null http://purl.obolibrary.org/obo/MONDO_0002135 node EFO_0002216 obsolete_K562 null http://www.ebi.ac.uk/efo/EFO_0002216 node EFO_0000729 ulcerative colitis null http://www.ebi.ac.uk/efo/EFO_0000729 node NCBITaxon_3912 Vicia narbonensis null http://purl.obolibrary.org/obo/NCBITaxon_3912 node CL_0000092 osteoclast Morphology: Highly vesicular; markers: Surface: RANK, cFMS (MCSF receptor); Secreted: cathepsin K and TRAP (tartate resistant acid phosphatase); transcription factors: PU.1, cFOS, MITF, NFkB (p52); role or process: tissue remodelling: bone resorption; lineage: hematopoietic, myeloid. http://purl.obolibrary.org/obo/CL_0000092 node Orphanet_3416 Hyperostosis corticalis generalisata null http://www.orpha.net/ORDO/Orphanet_3416 node UBERON_0002451 endometrial gland null http://purl.obolibrary.org/obo/UBERON_0002451 node CHEBI_55535 (R)-2-hydroxy-4-methylpentanoate null http://purl.obolibrary.org/obo/CHEBI_55535 node EFO_1000847 brain stem infarction null http://www.ebi.ac.uk/efo/EFO_1000847 node MONDO_0002400 synovitis (disease) null http://purl.obolibrary.org/obo/MONDO_0002400 node EFO_0003869 breast neoplasm null http://www.ebi.ac.uk/efo/EFO_0003869 node Orphanet_202 Crandall syndrome null http://www.orpha.net/ORDO/Orphanet_202 node EFO_0008316 vaso-occlusive pain measurement null http://www.ebi.ac.uk/efo/EFO_0008316 node HP_0001251 Ataxia Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. http://purl.obolibrary.org/obo/HP_0001251 node Orphanet_329303 PLA2G6-associated neurodegeneration null http://www.orpha.net/ORDO/Orphanet_329303 node EFO_0002304 NCI-H748 null http://www.ebi.ac.uk/efo/EFO_0002304 node EFO_0000336 chromosomal aberration null http://www.ebi.ac.uk/efo/EFO_0000336 node PO_0025522 tuber Functions in storage of photosynthate metabolites. May develop from a branch (PO:0025073) or a root (PO:0009005). If you are annotating to tuber, you should pick the more specific child term: shoot axis tuber (PO:0004543) or tuberous root tuber (PO:0025476). http://purl.obolibrary.org/obo/PO_0025522 node Orphanet_177910 Prader-Willi syndrome due to imprinting mutation null http://www.orpha.net/ORDO/Orphanet_177910 node EFO_0010757 response to diet null http://www.ebi.ac.uk/efo/EFO_0010757 node EFO_0000817 obsolete_blood vessel null http://www.ebi.ac.uk/efo/EFO_0000817 node EFO_1001017 limited scleroderma null http://www.ebi.ac.uk/efo/EFO_1001017 node HP_0011840 Abnormality of T cell physiology null http://purl.obolibrary.org/obo/HP_0011840 node EFO_0005447 PEO23 null http://www.ebi.ac.uk/efo/EFO_0005447 node EFO_0005352 GM20000 null http://www.ebi.ac.uk/efo/EFO_0005352 node UBERON_2000414 presumptive cephalic mesoderm null http://purl.obolibrary.org/obo/UBERON_2000414 node Orphanet_96190 Paternal uniparental disomy of chromosome 5 null http://www.orpha.net/ORDO/Orphanet_96190 node EFO_0003957 radius fracture null http://www.ebi.ac.uk/efo/EFO_0003957 node Orphanet_228340 CLN4A disease null http://www.orpha.net/ORDO/Orphanet_228340 node MONDO_0004202 adrenal medulla carcinoma null http://purl.obolibrary.org/obo/MONDO_0004202 node EFO_1000267 Gallbladder Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000267 node EFO_1000748 pelvic lipomatosis null http://www.ebi.ac.uk/efo/EFO_1000748 node Orphanet_113 Bazex-Dupré-Christol syndrome null http://www.orpha.net/ORDO/Orphanet_113 node Orphanet_1277 Brachydactyly - mesomelia - intellectual disability - heart defects null http://www.orpha.net/ORDO/Orphanet_1277 node Orphanet_262092 Partial deletion of the long arm of chromosome 11 null http://www.orpha.net/ORDO/Orphanet_262092 node EFO_0000219 obsolete_acute lymphoblastic leukemia null http://www.ebi.ac.uk/efo/EFO_0000219 node EFO_0010845 HG02642 null http://www.ebi.ac.uk/efo/EFO_0010845 node GO_0097327 response to antineoplastic agent null http://purl.obolibrary.org/obo/GO_0097327 node EFO_1002032 primary hypertension null http://www.ebi.ac.uk/efo/EFO_1002032 node Orphanet_182076 Syndromic neurometabolic disease with X-linked intellectual disability null http://www.orpha.net/ORDO/Orphanet_182076 node Orphanet_1706 Mosaic trisomy 15 null http://www.orpha.net/ORDO/Orphanet_1706 node MONDO_0017957 unclassified autoinflammatory syndrome null http://purl.obolibrary.org/obo/MONDO_0017957 node Orphanet_1529 Craniofacial-deafness-hand syndrome null http://www.orpha.net/ORDO/Orphanet_1529 node EFO_0005738 ESC derived cell line "To date, human embryonic stem cell (hESC) lines have been obtained from fresh and frozen embryos of varying quality at morula and blastocyst stages of development (Hoffman and Carpenter, 2005a)." Differences between human embryonic stem cell lines C.Allergrucci and L.E.Young Hum. Reprod. Update (March/April 2007) 13 (2): 103-120. doi: 10.1093/humupd/dml041 First published online: August 26, 2006 http://humupd.oxfordjournals.org/content/13/2/103.full http://www.ebi.ac.uk/efo/EFO_0005738 node Orphanet_97120 Distal arthrogryposis null http://www.orpha.net/ORDO/Orphanet_97120 node EFO_1000355 Malignant Mesothelioma null http://www.ebi.ac.uk/efo/EFO_1000355 node MONDO_0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder the classification of diseases such as HL and BL under this class is not consistent with MONDO design patterns, since not all instances of these diseases are caused by EBV http://purl.obolibrary.org/obo/MONDO_0017343 node HP_0011906 Reduced beta/alpha synthesis ratio null http://purl.obolibrary.org/obo/HP_0011906 node CL_0000808 DN4 thymocyte Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and beginning to rearrange the T cell receptor alpha chain. http://purl.obolibrary.org/obo/CL_0000808 node NCBITaxon_375050 Synechococcus phage S-IO17 null http://purl.obolibrary.org/obo/NCBITaxon_375050 node EFO_0005418 serum dimethylarginine measurement null http://www.ebi.ac.uk/efo/EFO_0005418 node CHEBI_37845 growth hormone null http://purl.obolibrary.org/obo/CHEBI_37845 node Orphanet_2053 Freeman-Sheldon syndrome null http://www.orpha.net/ORDO/Orphanet_2053 node EFO_0005826 ML-DmD17-c3 null http://www.ebi.ac.uk/efo/EFO_0005826 node HP_0012364 Decreased urinary potassium null http://purl.obolibrary.org/obo/HP_0012364 node EFO_0005639 ATC Code H Systemic hormonal preparations, excluding sex hormones and insulins H SYSTEMIC HORMONAL PREPARATIONS, EXCL. SEX HORMONES AND INSULINS This group comprises all hormonal preparations for systemic use, except: - Insulins, see A10. - Anabolic steroids, see A14. - Catecholamines, see C01C and R03C. - Sex hormones, see G03. - Sex hormones used in treatment of neoplastic diseases, see L02. The DDDs are generally based on the treatment or diagnosis of endocrine disorders. H01 PITUITARY AND HYPOTHALAMIC HORMONES AND ANALOGUES H02 CORTICOSTEROIDS FOR SYSTEMIC USE As a main rule, systemic corticosteroids should be classified in this group. There is, however, one exception: M01BA - Antiinflam-matory/antirheumatic agents in combination with corticosteroids. Corticosteroids for local oral treatment, see A01AC. Enemas and rectal foams for local treatment of e.g. ulcerative colitis, see A07E. Corticosteroids for topical use, see D07. Combined corticosteroid preparations for local treatment of acne, see D10AA. Corticosteroids in combination with antiinfectives/antiseptics for local treatment of gynecological infections, see G01B. Corticosteroids for nasal use, see R01AD. Corticosteroids for inhalation, see R03BA. Corticosteroids, eye/ear preparations, see S. H03 THYROID THERAPY H04 PANCREATIC HORMONES H05 CALCIUM HOMEOSTASIS Drugs acting on calcium homeostasis are classified in this group. Vitamin-D preparations, see A11CC. http://www.ebi.ac.uk/efo/EFO_0005639 node Orphanet_261816 Partial deletion of chromosome 11 null http://www.orpha.net/ORDO/Orphanet_261816 node EFO_0008690 CIRS-seq null http://www.ebi.ac.uk/efo/EFO_0008690 node EFO_0008485 homosexuality null http://www.ebi.ac.uk/efo/EFO_0008485 node NCBITaxon_412675 Cucumis melo subsp. melo null http://purl.obolibrary.org/obo/NCBITaxon_412675 node NCBITaxon_71150 Paxillus involutus null http://purl.obolibrary.org/obo/NCBITaxon_71150 node FBbt_00005670 embryonic esophageal ganglion This term has been obsoleted because it corresponds to two ganglia: paraesophageal and hypocerebral, which some literature, such as FBrf0075001, name 'esophageal ganglion 1' and 'esophageal ganglion 2' [FBC:MMC]. mc27092016 http://purl.obolibrary.org/obo/FBbt_00005670 node EFO_0004202 Illumina Genome Analyzer IIx null http://www.ebi.ac.uk/efo/EFO_0004202 node NCBITaxon_54261 Ferroglobus placidus null http://purl.obolibrary.org/obo/NCBITaxon_54261 node CHEBI_44445 nimesulide null http://purl.obolibrary.org/obo/CHEBI_44445 node Orphanet_2141 Diaphragmatic defect - limb deficiency - skull defect null http://www.orpha.net/ORDO/Orphanet_2141 node NCBITaxon_450 Legionella longbeachae null http://purl.obolibrary.org/obo/NCBITaxon_450 node MONDO_0025193 oculopharyngodistal myopathy null http://purl.obolibrary.org/obo/MONDO_0025193 node EFO_0002883 haemopoietic system cell line null http://www.ebi.ac.uk/efo/EFO_0002883 node HP_0200065 Chorioretinal degeneration null http://purl.obolibrary.org/obo/HP_0200065 node MONDO_0014946 Sifrim-Hitz-Weiss syndrome null http://purl.obolibrary.org/obo/MONDO_0014946 node Orphanet_157716 Late infantile CACH syndrome null http://www.orpha.net/ORDO/Orphanet_157716 node EFO_0008573 alcoholic liver disease null http://www.ebi.ac.uk/efo/EFO_0008573 node UBERON_0003128 cranium null http://purl.obolibrary.org/obo/UBERON_0003128 node CHEBI_33083 fluroanthene null http://purl.obolibrary.org/obo/CHEBI_33083 node NCBITaxon_7463 Apis florea null http://purl.obolibrary.org/obo/NCBITaxon_7463 node EFO_0009369 diffusing capacity of the lung for carbon monoxide null http://www.ebi.ac.uk/efo/EFO_0009369 node EFO_0006648 MeWo null http://www.ebi.ac.uk/efo/EFO_0006648 node MONDO_0030917 intellectual disability, autosomal dominant 51 null http://purl.obolibrary.org/obo/MONDO_0030917 node EFO_0008983 VirScan null http://www.ebi.ac.uk/efo/EFO_0008983 node Orphanet_397787 Severe combined immunodeficiency due to IKK2 deficiency null http://www.orpha.net/ORDO/Orphanet_397787 node EFO_0008796 MARS-seq null http://www.ebi.ac.uk/efo/EFO_0008796 node EFO_0002971 ILSXISS#/Tej null http://www.ebi.ac.uk/efo/EFO_0002971 node Orphanet_357175 Short ulna - dysmorphism - hypotonia - intellectual disability null http://www.orpha.net/ORDO/Orphanet_357175 node MONDO_0023149 infection due to clostridium perfringens null http://purl.obolibrary.org/obo/MONDO_0023149 node EFO_0002784 GM12878 null http://www.ebi.ac.uk/efo/EFO_0002784 node HP_0000651 Diplopia null http://purl.obolibrary.org/obo/HP_0000651 node UBERON_2001073 axial vasculature null http://purl.obolibrary.org/obo/UBERON_2001073 node Orphanet_79255 GM1 gangliosidosis type 1 null http://www.orpha.net/ORDO/Orphanet_79255 node HP_0000464 Abnormality of the neck null http://purl.obolibrary.org/obo/HP_0000464 node NCBITaxon_37734 Enterococcus casseliflavus null http://purl.obolibrary.org/obo/NCBITaxon_37734 node MONDO_0002282 West Nile fever null http://purl.obolibrary.org/obo/MONDO_0002282 node MONDO_0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis null http://purl.obolibrary.org/obo/MONDO_0015492 node EFO_0008884 RBNS null http://www.ebi.ac.uk/efo/EFO_0008884 node MONDO_0024341 retinal cell neoplasm null http://purl.obolibrary.org/obo/MONDO_0024341 node EFO_0000886 obsolete_haltere null http://www.ebi.ac.uk/efo/EFO_0000886 node MONDO_0002586 thymus cancer null http://purl.obolibrary.org/obo/MONDO_0002586 node NCBITaxon_7130 Manduca sexta null http://purl.obolibrary.org/obo/NCBITaxon_7130 node Orphanet_593 Myofibrillar myopathy null http://www.orpha.net/ORDO/Orphanet_593 node EFO_0009058 Spinocerebellar ataxia type 41 null http://www.ebi.ac.uk/efo/EFO_0009058 node UO_0000047 area unit null http://purl.obolibrary.org/obo/UO_0000047 node EFO_0000699 Sjogren syndrome Editor note: check for differences with Mik PMID:10845583 http://www.ebi.ac.uk/efo/EFO_0000699 node EFO_0008036 BMI-adjusted fasting blood glucose measurement null http://www.ebi.ac.uk/efo/EFO_0008036 node Orphanet_138047 Pierre Robin syndrome associated with a chromosomal anomaly null http://www.orpha.net/ORDO/Orphanet_138047 node EFO_0008517 oral lichen planus null http://www.ebi.ac.uk/efo/EFO_0008517 node CHEBI_132934 3-hydroxysebacate null http://purl.obolibrary.org/obo/CHEBI_132934 node EFO_0001230 R8 null http://www.ebi.ac.uk/efo/EFO_0001230 node MONDO_0000045 hypothyroidism, congenital, nongoitrous null http://purl.obolibrary.org/obo/MONDO_0000045 node CHEBI_27891 S-sulfo-L-cysteine null http://purl.obolibrary.org/obo/CHEBI_27891 node MONDO_0054813 ehlers-danlos syndrome, classic-like, 2 null http://purl.obolibrary.org/obo/MONDO_0054813 node OBI_0100051 specimen null http://purl.obolibrary.org/obo/OBI_0100051 node Orphanet_79156 Seizures - intellectual disability due to hydroxylysinuria null http://www.orpha.net/ORDO/Orphanet_79156 node EFO_0001053 obsolete_stigma null http://www.ebi.ac.uk/efo/EFO_0001053 node CL_0001027 CD7-negative lymphoid progenitor cell These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000039)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001027 node Orphanet_93962 Autosomal dominant cervical dystonia null http://www.orpha.net/ORDO/Orphanet_93962 node Orphanet_3019 Ramon syndrome null http://www.orpha.net/ORDO/Orphanet_3019 node EFO_0001451 instrument design null http://www.ebi.ac.uk/efo/EFO_0001451 node EFO_0009146 pik3ca related overgrowth spectrum null http://www.ebi.ac.uk/efo/EFO_0009146 node MONDO_0020134 cystic malformation of the posterior fossa null http://purl.obolibrary.org/obo/MONDO_0020134 node UO_0000135 rad null http://purl.obolibrary.org/obo/UO_0000135 node EFO_0000787 obsolete_animal component null http://www.ebi.ac.uk/efo/EFO_0000787 node EFO_0008124 ephrin type-B receptor 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008124 node EFO_0001779 time series design null http://www.ebi.ac.uk/efo/EFO_0001779 node EFO_1000468 Peritoneal Multicystic Mesothelioma null http://www.ebi.ac.uk/efo/EFO_1000468 node MONDO_0015077 adrenal/paraganglial tumor Editor note: consider merging http://purl.obolibrary.org/obo/MONDO_0015077 node Orphanet_141163 Glossopalatine ankylosis null http://www.orpha.net/ORDO/Orphanet_141163 node Orphanet_93398 Genochondromatosis type 2 null http://www.orpha.net/ORDO/Orphanet_93398 node EFO_0008396 response to reward null http://www.ebi.ac.uk/efo/EFO_0008396 node EFO_0002080 obsolete_SKMEL5 null http://www.ebi.ac.uk/efo/EFO_0002080 node Orphanet_306719 Neurodegenerative disease with chorea null http://www.orpha.net/ORDO/Orphanet_306719 node MONDO_0004658 breast carcinoma in situ null http://purl.obolibrary.org/obo/MONDO_0004658 node HP_0005609 Gallbladder dysfunction null http://purl.obolibrary.org/obo/HP_0005609 node HP_0100585 Telangiectasia of the skin null http://purl.obolibrary.org/obo/HP_0100585 node Orphanet_3107 Autosomal dominant Robinow syndrome null http://www.orpha.net/ORDO/Orphanet_3107 node Orphanet_98608 Anomaly of the secretory and excretory apparatus of the lacrimal system null http://www.orpha.net/ORDO/Orphanet_98608 node HANCESTRO_0574 Pacific Islander null http://purl.obolibrary.org/obo/HANCESTRO_0574 node Orphanet_1296 Lambert syndrome null http://www.orpha.net/ORDO/Orphanet_1296 node EFO_0008212 low affinity immunoglobulin gamma Fc region receptor III-B measurement null http://www.ebi.ac.uk/efo/EFO_0008212 node India India null http://dbpedia.org/resource/India node MONDO_0020035 rare otorhinolaryngologic tumor null http://purl.obolibrary.org/obo/MONDO_0020035 node EFO_1000556 Superficial Fibromatosis null http://www.ebi.ac.uk/efo/EFO_1000556 node EFO_0000027 CS57596 null http://www.ebi.ac.uk/efo/EFO_0000027 node EFO_0010653 intellectual developmental disorder with speech delay, autism and dysmorphic facies null http://www.ebi.ac.uk/efo/EFO_0010653 node EFO_0010448 3-hydroxyphenylacetic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010448 node Orphanet_261524 Paternal uniparental disomy of chromosome X null http://www.orpha.net/ORDO/Orphanet_261524 node Orphanet_1541 Craniosynostosis, Boston type null http://www.orpha.net/ORDO/Orphanet_1541 node MONDO_0004746 myopathy of extraocular muscle null http://purl.obolibrary.org/obo/MONDO_0004746 node EFO_0005138 acquired long QT syndrome requested by James Ware http://www.ebi.ac.uk/efo/EFO_0005138 node Orphanet_93323 Fibular hemimelia null http://www.orpha.net/ORDO/Orphanet_93323 node CLO_0016555 GM17755 null http://purl.obolibrary.org/obo/CLO_0016555 node MONDO_0015867 vaginal carcinoma null http://purl.obolibrary.org/obo/MONDO_0015867 node EFO_0003648 obsolete_epibranchial 5 null http://www.ebi.ac.uk/efo/EFO_0003648 node EFO_0004770 ovarian reserve null http://www.ebi.ac.uk/efo/EFO_0004770 node EFO_0004565 serum IgG measurement null http://www.ebi.ac.uk/efo/EFO_0004565 node EFO_0010242 beta globulin measurement null http://www.ebi.ac.uk/efo/EFO_0010242 node Orphanet_30924 Primary hypomagnesemia with secondary hypocalcemia null http://www.orpha.net/ORDO/Orphanet_30924 node NCBITaxon_335992 Candidatus Pelagibacter ubique HTCC1062 null http://purl.obolibrary.org/obo/NCBITaxon_335992 node EFO_1000439 Pancreatic Acinar Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000439 node EFO_0004388 picomole per 10^6 cells null http://www.ebi.ac.uk/efo/EFO_0004388 node EFO_0004508 spine bone size null http://www.ebi.ac.uk/efo/EFO_0004508 node HP_0001328 Specific learning disability The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. http://purl.obolibrary.org/obo/HP_0001328 node EFO_0010055 response to calcineurin inhibitor null http://www.ebi.ac.uk/efo/EFO_0010055 node EFO_0000115 CS57778 null http://www.ebi.ac.uk/efo/EFO_0000115 node EFO_0010536 taurine measurement null http://www.ebi.ac.uk/efo/EFO_0010536 node Orphanet_397933 Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome null http://www.orpha.net/ORDO/Orphanet_397933 node EFO_0005226 swine influenza A viral infectious disease caused by swine influenza virus, NCBI taxon - http://purl.bioontology.org/ontology/NCBITAXON/12845 http://www.ebi.ac.uk/efo/EFO_0005226 node CLO_0016643 GM17780 null http://purl.obolibrary.org/obo/CLO_0016643 node PO_0007053 FL.02 1/2 of flowers open stage null http://purl.obolibrary.org/obo/PO_0007053 node CHEBI_17649 hydroxymalonate(2-) null http://purl.obolibrary.org/obo/CHEBI_17649 node Orphanet_1442 Ring chromosome 18 null http://www.orpha.net/ORDO/Orphanet_1442 node Orphanet_352662 Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis null http://www.orpha.net/ORDO/Orphanet_352662 node EFO_1001150 renal artery obstruction null http://www.ebi.ac.uk/efo/EFO_1001150 node EFO_1000046 papillary lung adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000046 node EFO_0008985 WGBS null http://www.ebi.ac.uk/efo/EFO_0008985 node EFO_0004653 response to TNF antagonist null http://www.ebi.ac.uk/efo/EFO_0004653 node MONDO_0017034 secondary interstitial lung disease in childhood and adulthood null http://purl.obolibrary.org/obo/MONDO_0017034 node EFO_0005700 TTC549 null http://www.ebi.ac.uk/efo/EFO_0005700 node MONDO_0011193 cone dystrophy 3 null http://purl.obolibrary.org/obo/MONDO_0011193 node EFO_0009603 stroke outcome severity measurement null http://www.ebi.ac.uk/efo/EFO_0009603 node EFO_0003549 obsolete_caudal tuberculum null http://www.ebi.ac.uk/efo/EFO_0003549 node EFO_0010143 chronic mountain sickness null http://www.ebi.ac.uk/efo/EFO_0010143 node CL_0000041 mature eosinophil Eosinophils are CD125-positive (IL-5R), GM-CSFR-positive, IL-3R-positive, VLA4-positive. They can also express MHC Class I & II, CD4, CD9, CD11a, CD11b, CD11c, CD13, CD15, CD16, CD17, CD18, CD24, CD25,CD28, CD29, CD32, CD33, CD35, CD37, CD39, CD43, CD44, CD45, CD45RB, CD45RO, CD46, CD47, CD48, CD49d, CD49f, CD50, CD52, CD53, CD54, CD55, CD58, CD59, CD62L, CD63, CD65, CD66, CD69, CD71, CD76, CD80, CD81, CD82, CD86, CD87, CD88, CD89, CD92, CD95, CD97, CD98, CD99, CD100, CD101, CD116, CD117, CD119, CD120, CD123, CD124, CD125, CD131, CD137, CD139, CD148, CD149, CD151, CD153, CD156, CD162, CD161, CD162, CD165, CD174, CD182, CD183, CD191, CD192, CD193, CD196, CD213, IL9R, ad integrin, beta-7 integrin, FceRI, IL13Ra1, TGFbR, PAFR, LTB4R, C3aR, CystLT1R, CystLT2R, fMLPR, CRTH2 (PGD2 receptor), histamine 4R, IDO, KYN, PAR-2, Siglec-8, Siglec-10, LIR1, LIR2, LIR3, LIR7, TLR7, TLR8, and VLA-4. Eosinophils can also secrete CXCL1, eotaxin-1, GM-CSF, IL-2, IL-3, IL-4, IL-5, IL-6, IL-8, IL-10, IL-12, IL-13, IL-16, IL-18, IFN-gamma, LTC4, MIP-1alpha, NGF, PAF, RANTES, substance P, TGF-alpha, TGF-beta, TNF-alpha, and VIP. http://purl.obolibrary.org/obo/CL_0000041 node Orphanet_183466 Genetic hyperpigmentation of the skin null http://www.orpha.net/ORDO/Orphanet_183466 node EFO_0002112 AsPC1 null http://www.ebi.ac.uk/efo/EFO_0002112 node MONDO_0021335 carcinoma of duodenum null http://purl.obolibrary.org/obo/MONDO_0021335 node Orphanet_370938 Salt-and-pepper syndrome null http://www.orpha.net/ORDO/Orphanet_370938 node Orphanet_51608 Generalized arterial calcification of infancy null http://www.orpha.net/ORDO/Orphanet_51608 node NCBITaxon_39416 Tuber melanosporum null http://purl.obolibrary.org/obo/NCBITaxon_39416 node Orphanet_295101 Acheiria, unilateral null http://www.orpha.net/ORDO/Orphanet_295101 node MONDO_0001554 phacogenic glaucoma null http://purl.obolibrary.org/obo/MONDO_0001554 node EFO_0004741 blood urea nitrogen measurement null http://www.ebi.ac.uk/efo/EFO_0004741 node EFO_0005690 musical aptitude null http://www.ebi.ac.uk/efo/EFO_0005690 node UBERON_0000922 embryo null http://purl.obolibrary.org/obo/UBERON_0000922 node EFO_0007279 gas gangrene null http://www.ebi.ac.uk/efo/EFO_0007279 node Orphanet_295075 Ulnar hemimelia, unilateral null http://www.orpha.net/ORDO/Orphanet_295075 node EFO_0006327 response to sertraline null http://www.ebi.ac.uk/efo/EFO_0006327 node Orphanet_98573 Epicanthal fold null http://www.orpha.net/ORDO/Orphanet_98573 node Orphanet_79345 Brachytelephalangic chondrodysplasia punctata null http://www.orpha.net/ORDO/Orphanet_79345 node EFO_0009927 Antihypertensive use measurement null http://www.ebi.ac.uk/efo/EFO_0009927 node MONDO_0018588 ALECT2 amyloidosis null http://purl.obolibrary.org/obo/MONDO_0018588 node CHEBI_50867 ciprofibrate null http://purl.obolibrary.org/obo/CHEBI_50867 node NCBITaxon_121759 Paracoccidioides brasiliensis null http://purl.obolibrary.org/obo/NCBITaxon_121759 node Orphanet_2985 Pseudoprogeria syndrome null http://www.orpha.net/ORDO/Orphanet_2985 node MONDO_0016990 acquired prothrombin deficiency null http://purl.obolibrary.org/obo/MONDO_0016990 node CL_0002437 mature CD8 single-positive thymocyte null http://purl.obolibrary.org/obo/CL_0002437 node Orphanet_2798 Pachygyria - intellectual disability - epilepsy null http://www.orpha.net/ORDO/Orphanet_2798 node EFO_0001968 obsolete_medial geniculate nucleus null http://www.ebi.ac.uk/efo/EFO_0001968 node EFO_0009721 mother's age at death null http://www.ebi.ac.uk/efo/EFO_0009721 node NCBITaxon_9986 Oryctolagus cuniculus null http://purl.obolibrary.org/obo/NCBITaxon_9986 node CHEBI_38637 tyrosine kinase inhibitor null http://purl.obolibrary.org/obo/CHEBI_38637 node Orphanet_79433 Oculocutaneous albinism type 3 null http://www.orpha.net/ORDO/Orphanet_79433 node EFO_0008487 lateral ventricle volume measurement null http://www.ebi.ac.uk/efo/EFO_0008487 node Orphanet_35708 Aromatic L-amino acid decarboxylase deficiency null http://www.orpha.net/ORDO/Orphanet_35708 node EFO_0009534 biliary tract disease null http://www.ebi.ac.uk/efo/EFO_0009534 node EFO_0007740 S wave amplitude null http://www.ebi.ac.uk/efo/EFO_0007740 node EFO_0006813 atrophic thyroiditis It has been suggested that Hashimoto's thyroiditis, primary myxedema or AT, and Graves’ disease are different expressions of a basically similar autoimmune process, and that the clinical appearance reflects the spectrum of the immune response in the particular patient http://www.ebi.ac.uk/efo/EFO_0006813 node Orphanet_100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C null http://www.orpha.net/ORDO/Orphanet_100045 node Orphanet_281085 Inherited ichthyosis syndromic form null http://www.orpha.net/ORDO/Orphanet_281085 node MONDO_0013572 Keppen-Lubinsky syndrome null http://purl.obolibrary.org/obo/MONDO_0013572 node Orphanet_3194 Stern-Lubinsky-Durrie syndrome null http://www.orpha.net/ORDO/Orphanet_3194 node Orphanet_2886 TARP syndrome null http://www.orpha.net/ORDO/Orphanet_2886 node MONDO_0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay null http://purl.obolibrary.org/obo/MONDO_0014948 node NCBITaxon_9593 Gorilla gorilla null http://purl.obolibrary.org/obo/NCBITaxon_9593 node Orphanet_998 Albinism-deafness syndrome Editor note: check whether precisely identicial to Woolf syndrome http://www.orpha.net/ORDO/Orphanet_998 node Orphanet_52055 Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia null http://www.orpha.net/ORDO/Orphanet_52055 node Orphanet_3038 Delayed speech - facial asymmetry - strabismus - ear lobe creases null http://www.orpha.net/ORDO/Orphanet_3038 node EFO_0008575 obsolete_Osteochondrosis null http://www.ebi.ac.uk/efo/EFO_0008575 node EFO_0009622 fracture of pelvis null http://www.ebi.ac.uk/efo/EFO_0009622 node EFO_0006901 angiopoietin-2 measurement null http://www.ebi.ac.uk/efo/EFO_0006901 node EFO_1001966 rectosigmoid adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1001966 node SO_0000655 ncRNA null http://purl.obolibrary.org/obo/SO_0000655 node HP_0000957 Cafe-au-lait spot The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia. http://purl.obolibrary.org/obo/HP_0000957 node Orphanet_251056 6q25 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_251056 node Orphanet_101030 Subependymal nodular heterotopia null http://www.orpha.net/ORDO/Orphanet_101030 node MONDO_0002807 bronchial neoplasm (disease) null http://purl.obolibrary.org/obo/MONDO_0002807 node EFO_0002429 polycythemia vera null http://www.ebi.ac.uk/efo/EFO_0002429 node MONDO_0013660 arthrogryposis, Perthes disease, and upward gaze palsy null http://purl.obolibrary.org/obo/MONDO_0013660 node Orphanet_98960 Thiel-Behnke corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98960 node EFO_0009223 Hemoglobin S Measurement null http://www.ebi.ac.uk/efo/EFO_0009223 node EFO_1001760 aneurysmal bone cyst null http://www.ebi.ac.uk/efo/EFO_1001760 node MONDO_0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive null http://purl.obolibrary.org/obo/MONDO_0033543 node UBERON_0002183 lobar bronchus null http://purl.obolibrary.org/obo/UBERON_0002183 node CHEBI_17996 chloride null http://purl.obolibrary.org/obo/CHEBI_17996 node CHEBI_35640 adrenergic uptake inhibitor null http://purl.obolibrary.org/obo/CHEBI_35640 node MONDO_0000210 thiopurine metabolic disease null http://purl.obolibrary.org/obo/MONDO_0000210 node Orphanet_101008 Autosomal recessive spastic paraplegia type 28 null http://www.orpha.net/ORDO/Orphanet_101008 node Orphanet_2207 Familial primary hyperparathyroidism null http://www.orpha.net/ORDO/Orphanet_2207 node EFO_0003621 obsolete_intestinal bulb null http://www.ebi.ac.uk/efo/EFO_0003621 node Orphanet_295183 Central polydactyly of toes, unilateral null http://www.orpha.net/ORDO/Orphanet_295183 node Orphanet_233 Duane retraction syndrome null http://www.orpha.net/ORDO/Orphanet_233 node NCBITaxon_746128 Aspergillus fumigatus null http://purl.obolibrary.org/obo/NCBITaxon_746128 node EO_0001056 elevated carbon dioxide treatment null http://purl.obolibrary.org/obo/EO_0001056 node MONDO_0013062 long QT syndrome 12 null http://purl.obolibrary.org/obo/MONDO_0013062 node EFO_0002517 pancreatic ductal adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0002517 node MONDO_0004609 herpes simplex infectious disease null http://purl.obolibrary.org/obo/MONDO_0004609 node EFO_1000412 Ovarian Carcinosarcoma null http://www.ebi.ac.uk/efo/EFO_1000412 node Orphanet_448267 regressive spondylometaphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_448267 node Orphanet_2342 Haim-Munk syndrome null http://www.orpha.net/ORDO/Orphanet_2342 node CLO_0031516 GM14504 null http://purl.obolibrary.org/obo/CLO_0031516 node EFO_1000820 arteriosclerosis obliterans null http://www.ebi.ac.uk/efo/EFO_1000820 node NCBITaxon_300 Pseudomonas mendocina null http://purl.obolibrary.org/obo/NCBITaxon_300 node PO_0009010 seed A seed generally develops from an ovule (PO:0020003) after fertilization, but may develop without fertilization in the case of apogamy (e.g., adventitious embryos or somatic embryos). A seed is a reproductive unit of seed plants (gymnosperms, angiosperms, and fossil pteridosperms). http://purl.obolibrary.org/obo/PO_0009010 node Orphanet_65288 Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis null http://www.orpha.net/ORDO/Orphanet_65288 node UBERON_0002084 heart left ventricle null http://purl.obolibrary.org/obo/UBERON_0002084 node EFO_0006994 response to gases and fumes exposure null http://www.ebi.ac.uk/efo/EFO_0006994 node Orphanet_321 Multiple osteochondromas null http://www.orpha.net/ORDO/Orphanet_321 node Orphanet_59305 Gestational trophoblastic neoplasm null http://www.orpha.net/ORDO/Orphanet_59305 node MONDO_0003236 atypical polypoid adenomyoma null http://purl.obolibrary.org/obo/MONDO_0003236 node EFO_1000500 Psammomatous Meningioma null http://www.ebi.ac.uk/efo/EFO_1000500 node EFO_0009838 alteration in respiration null http://www.ebi.ac.uk/efo/EFO_0009838 node EFO_0003522 obsolete_ventral telencephalon null http://www.ebi.ac.uk/efo/EFO_0003522 node CHEBI_64207 spiramide null http://purl.obolibrary.org/obo/CHEBI_64207 node EFO_0007425 peanut allergic reaction null http://www.ebi.ac.uk/efo/EFO_0007425 node Orphanet_2430 Congenital macroglossia null http://www.orpha.net/ORDO/Orphanet_2430 node EFO_0002298 NCI-H650 null http://www.ebi.ac.uk/efo/EFO_0002298 node MONDO_0009064 ocular cystinosis null http://purl.obolibrary.org/obo/MONDO_0009064 node EFO_0003930 menarche null http://www.ebi.ac.uk/efo/EFO_0003930 node CHEBI_2663 amiodarone null http://purl.obolibrary.org/obo/CHEBI_2663 node EFO_0005692 transposable element identification design RetroSeq (as cited in the source definition citation) is one of the available softwares for TE identification. Other tools include (but not limited to) VariationHunter (Hormozdiari et al. 2010), Hydra (Quinlan et al. 2011), and Tea (Lee et al., 2012). http://www.ebi.ac.uk/efo/EFO_0005692 node EFO_1000721 kernicterus due to isoimmunization null http://www.ebi.ac.uk/efo/EFO_1000721 node CHEBI_21759 N-methyl-N'-nitro-N-nitrosoguanidine null http://purl.obolibrary.org/obo/CHEBI_21759 node EFO_0005303 sudden infant death syndrome null http://www.ebi.ac.uk/efo/EFO_0005303 node EFO_1001789 familial apolipoprotein B hypobetalipoproteinemia null http://www.ebi.ac.uk/efo/EFO_1001789 node EFO_0003908 obsolete_refractive error null http://www.ebi.ac.uk/efo/EFO_0003908 node PO_0007611 petal differentiation and expansion stage null http://purl.obolibrary.org/obo/PO_0007611 node CL_0000839 myeloid lineage restricted progenitor cell Note that this is a class of cell types, not an identified single cell type. http://purl.obolibrary.org/obo/CL_0000839 node EFO_1001099 perinephritis null http://www.ebi.ac.uk/efo/EFO_1001099 node EFO_0003813 nucleic acid labeling protocol null http://www.ebi.ac.uk/efo/EFO_0003813 node Orphanet_177907 Prader-Willi syndrome due to translocation null http://www.orpha.net/ORDO/Orphanet_177907 node Orphanet_363965 Koolen-De Vries syndrome due to a point mutation null http://www.orpha.net/ORDO/Orphanet_363965 node UBERON_0001232 collecting duct of renal tubule null http://purl.obolibrary.org/obo/UBERON_0001232 node Orphanet_2084 Glaucoma - ectopia - microspherophakia - stiff joints - short stature null http://www.orpha.net/ORDO/Orphanet_2084 node CL_0000762 nucleated thrombocyte Note that this is a non-mammalian cell type. Use platelet ; CL:0000233 for thrombocytes (platelets) in mammals. http://purl.obolibrary.org/obo/CL_0000762 node Orphanet_96187 Maternal uniparental disomy of chromosome 21 null http://www.orpha.net/ORDO/Orphanet_96187 node UBERON_0003917 arthropod fat body null http://purl.obolibrary.org/obo/UBERON_0003917 node Orphanet_228337 CLN10 disease null http://www.orpha.net/ORDO/Orphanet_228337 node NCBITaxon_2285 Sulfolobus acidocaldarius null http://purl.obolibrary.org/obo/NCBITaxon_2285 node CHEBI_3380 captopril null http://purl.obolibrary.org/obo/CHEBI_3380 node Orphanet_263749 X and Y chromosomal anomaly null http://www.orpha.net/ORDO/Orphanet_263749 node PO_0006220 central endosperm Also called starchy endosperm region (characteristic of some grasses). http://purl.obolibrary.org/obo/PO_0006220 node EFO_1002029 chronic rhinosinusitis with nasal polyps PMID:29253858 http://www.ebi.ac.uk/efo/EFO_1002029 node HP_0100534 Episcleritis In contrast to conjunctivitis, with episcleritis the inflammation is generally limited to isolated parts of the sclera and is not diffuse.One can observe dilated episcleral blood vessels between regions of white sclera. http://purl.obolibrary.org/obo/HP_0100534 node CHEBI_75927 (R)-2-hydroxypalmitate null http://purl.obolibrary.org/obo/CHEBI_75927 node EFO_0007543 vulvovaginal candidiasis null http://www.ebi.ac.uk/efo/EFO_0007543 node GO_0031012 extracellular matrix null http://purl.obolibrary.org/obo/GO_0031012 node Orphanet_169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies null http://www.orpha.net/ORDO/Orphanet_169346 node Orphanet_261204 16p11.2p12.2 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_261204 node Orphanet_2172 Microcephaly - glomerulonephritis - marfanoid habitus null http://www.orpha.net/ORDO/Orphanet_2172 node MONDO_0100000 MED12-related intellectual disability syndrome null http://purl.obolibrary.org/obo/MONDO_0100000 node MONDO_0016170 chronic polyradiculoneuropathy null http://purl.obolibrary.org/obo/MONDO_0016170 node EFO_0007356 mandibular cancer null http://www.ebi.ac.uk/efo/EFO_0007356 node Orphanet_183631 Rare genetic thyroid disease null http://www.orpha.net/ORDO/Orphanet_183631 node CHEBI_185922 5-fluorouridine null http://purl.obolibrary.org/obo/CHEBI_185922 node NCBITaxon_4084 Solanum pimpinellifolium null http://purl.obolibrary.org/obo/NCBITaxon_4084 node EFO_0005194 amyloid-beta measurement null http://www.ebi.ac.uk/efo/EFO_0005194 node EFO_0000408 disease null http://www.ebi.ac.uk/efo/EFO_0000408 node Orphanet_391646 Feingold syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_391646 node GO_0072718 response to cisplatin null http://purl.obolibrary.org/obo/GO_0072718 node EFO_0002997 ILSXISS90/TejJ null http://www.ebi.ac.uk/efo/EFO_0002997 node EFO_0007444 Plasmodium falciparum malaria null http://www.ebi.ac.uk/efo/EFO_0007444 node UBERON_2000040 median fin fold null http://purl.obolibrary.org/obo/UBERON_2000040 node Orphanet_404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome null http://www.orpha.net/ORDO/Orphanet_404437 node MONDO_0014893 Okur-Chung neurodevelopmental syndrome null http://purl.obolibrary.org/obo/MONDO_0014893 node MONDO_0045008 cholesterol metabolism disease Examples: disorder of cholesterol catabolism (disorder), disorder of cholesterol synthesis (disorder) http://purl.obolibrary.org/obo/MONDO_0045008 node EFO_0005282 HS-5 null http://www.ebi.ac.uk/efo/EFO_0005282 node MONDO_0000629 cardiovascular organ benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0000629 node CL_0002128 Tc17 cell This cell type is compatible with the HIPC Lyoplate markers for 'Tc17 CD8+ T cell', but its logical definition includes additional known characteristics of Tc17 T cells. Found in the CD27-positive, CD28-positive or CD27-negative, CD28-positive fractions with the phenotype CCR4-negative and CCR7-negative (this sentence not part of definition). http://purl.obolibrary.org/obo/CL_0002128 node MONDO_0018753 rare disease with malignant hyperthermia null http://purl.obolibrary.org/obo/MONDO_0018753 node NCBITaxon_158441 Folsomia candida null http://purl.obolibrary.org/obo/NCBITaxon_158441 node EFO_0007045 ATAC-seq null http://www.ebi.ac.uk/efo/EFO_0007045 node EFO_0008934 SMIT null http://www.ebi.ac.uk/efo/EFO_0008934 node EFO_0006504 non-dense area measurement null http://www.ebi.ac.uk/efo/EFO_0006504 node Orphanet_1133 AREDYLD syndrome null http://www.orpha.net/ORDO/Orphanet_1133 node Orphanet_352728 Disorder of melanin metabolism null http://www.orpha.net/ORDO/Orphanet_352728 node Orphanet_157798 Hyperplastic polyposis syndrome null http://www.orpha.net/ORDO/Orphanet_157798 node Orphanet_2273 Ichthyosis follicularis - alopecia - photophobia null http://www.orpha.net/ORDO/Orphanet_2273 node NCBITaxon_478749 Marvinbryantia formatexigens DSM 14469 null http://purl.obolibrary.org/obo/NCBITaxon_478749 node Orphanet_268162 Intermediate maple syrup urine disease null http://www.orpha.net/ORDO/Orphanet_268162 node CHEBI_29007 ceftriaxone null http://purl.obolibrary.org/obo/CHEBI_29007 node MONDO_0040998 Pasteurella multocida infectious disease null http://purl.obolibrary.org/obo/MONDO_0040998 node EFO_0008060 cadherin-5 measurement null http://www.ebi.ac.uk/efo/EFO_0008060 node EFO_0007133 adenomyoma null http://www.ebi.ac.uk/efo/EFO_0007133 node EFO_0001079 obsolete_Rett syndrome null http://www.ebi.ac.uk/efo/EFO_0001079 node MONDO_0002887 bile duct disease null http://purl.obolibrary.org/obo/MONDO_0002887 node Orphanet_329967 Intermittent hydrarthrosis null http://www.orpha.net/ORDO/Orphanet_329967 node MONDO_0001316 streptococcal meningitis null http://purl.obolibrary.org/obo/MONDO_0001316 node Orphanet_96346 Anorectal malformation null http://www.orpha.net/ORDO/Orphanet_96346 node EFO_0008835 nuc-seq null http://www.ebi.ac.uk/efo/EFO_0008835 node Orphanet_216452 Postlingual non-syndromic genetic deafness null http://www.orpha.net/ORDO/Orphanet_216452 node EFO_0008281 serine/threonine-protein kinase 17B measurement null http://www.ebi.ac.uk/efo/EFO_0008281 node HP_0001575 Mood changes null http://purl.obolibrary.org/obo/HP_0001575 node CHEBI_11892 N-carbamoyl-beta-alaninate null http://purl.obolibrary.org/obo/CHEBI_11892 node CHEBI_25094 lysine null http://purl.obolibrary.org/obo/CHEBI_25094 node CHEBI_81244 hyocholic acid null http://purl.obolibrary.org/obo/CHEBI_81244 node EFO_0001344 Copenhagen null http://www.ebi.ac.uk/efo/EFO_0001344 node MONDO_0024494 tumor grade 4, general grading system null http://purl.obolibrary.org/obo/MONDO_0024494 node EFO_0000760 malignant peripheral nerve sheath tumor null http://www.ebi.ac.uk/efo/EFO_0000760 node Orphanet_98979 Chandler syndrome null http://www.orpha.net/ORDO/Orphanet_98979 node Orphanet_777 X-linked non-syndromic intellectual disability null http://www.orpha.net/ORDO/Orphanet_777 node EFO_0001167 HBL100 null http://www.ebi.ac.uk/efo/EFO_0001167 node MONDO_0003892 acinar lung adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0003892 node MONDO_0015489 predominantly medium-vessel vasculitis null http://purl.obolibrary.org/obo/MONDO_0015489 node EFO_0001752 sex design null http://www.ebi.ac.uk/efo/EFO_0001752 node MONDO_0004689 inborn metal metabolism disorder null http://purl.obolibrary.org/obo/MONDO_0004689 node EFO_1000973 hyperpituitarism null http://www.ebi.ac.uk/efo/EFO_1000973 node Orphanet_238750 4q21 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_238750 node MONDO_0015531 non-Langerhans cell histiocytosis null http://purl.obolibrary.org/obo/MONDO_0015531 node EFO_0009872 increased cardiac output null http://www.ebi.ac.uk/efo/EFO_0009872 node NCBITaxon_89462 Bubalus bubalis null http://purl.obolibrary.org/obo/NCBITaxon_89462 node CHEBI_50154 1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane null http://purl.obolibrary.org/obo/CHEBI_50154 node MONDO_0001146 fourth cranial nerve palsy null http://purl.obolibrary.org/obo/MONDO_0001146 node EFO_0003125 NCI-H820 null http://www.ebi.ac.uk/efo/EFO_0003125 node MONDO_0001627 dementia (disease) null http://purl.obolibrary.org/obo/MONDO_0001627 node MONDO_0021582 lentigo Editor note: NCIT classifies as non-neoplastic, check this http://purl.obolibrary.org/obo/MONDO_0021582 node Orphanet_269553 Genetic cerebral malformation null http://www.orpha.net/ORDO/Orphanet_269553 node MONDO_0004777 acute laryngitis null http://purl.obolibrary.org/obo/MONDO_0004777 node NCBITaxon_3695 Populus trichocarpa x Populus deltoides null http://purl.obolibrary.org/obo/NCBITaxon_3695 node EFO_0002580 stomach endoderm null http://www.ebi.ac.uk/efo/EFO_0002580 node EFO_0009225 Hemoglobin Tetramer Measurement null http://www.ebi.ac.uk/efo/EFO_0009225 node EFO_0010268 brain abnormalities, neurodegeneration, and dysosteosclerosis null http://www.ebi.ac.uk/efo/EFO_0010268 node EFO_0004162 CTS (Concatenated Tag Sequencing) null http://www.ebi.ac.uk/efo/EFO_0004162 node EFO_0010749 motor function measurement null http://www.ebi.ac.uk/efo/EFO_0010749 node NCBITaxon_273384 Brevibacterium aurantiacum null http://purl.obolibrary.org/obo/NCBITaxon_273384 node HP_0005387 Combined immunodeficiency null http://purl.obolibrary.org/obo/HP_0005387 node Orphanet_1655 Müllerian derivatives - lymphangiectasia - polydactyly null http://www.orpha.net/ORDO/Orphanet_1655 node EFO_1001915 obsolete_Renal nutcracker syndrome null http://www.ebi.ac.uk/efo/EFO_1001915 node UBERON_0035652 fibular nerve null http://purl.obolibrary.org/obo/UBERON_0035652 node NCBITaxon_7227 Drosophila melanogaster null http://purl.obolibrary.org/obo/NCBITaxon_7227 node EFO_1001363 Lupus Vasculitis, Central Nervous System null http://www.ebi.ac.uk/efo/EFO_1001363 node EFO_0005793 FL.01 1/4 of flowers open stage null http://www.ebi.ac.uk/efo/EFO_0005793 node EFO_0004866 autoantibody measurement null http://www.ebi.ac.uk/efo/EFO_0004866 node MONDO_0012991 Kahrizi syndrome null http://purl.obolibrary.org/obo/MONDO_0012991 node EFO_0000495 fetal growth restriction Editor note: check if should be a disease http://www.ebi.ac.uk/efo/EFO_0000495 node EFO_0009313 Linear IgA Dermatosis null http://www.ebi.ac.uk/efo/EFO_0009313 node EFO_1000259 Flat Urothelial Hyperplasia null http://www.ebi.ac.uk/efo/EFO_1000259 node EFO_0000976 obsolete_vagina null http://www.ebi.ac.uk/efo/EFO_0000976 node CHEBI_78604 ursodeoxycholate null http://purl.obolibrary.org/obo/CHEBI_78604 node EFO_0010356 lysophosphatidylcholine 14:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010356 node EFO_0004250 obsolete_Moyamoya disease null http://www.ebi.ac.uk/efo/EFO_0004250 node EFO_0010837 GM19043 null http://www.ebi.ac.uk/efo/EFO_0010837 node Orphanet_99047 Double outlet right ventricle with doubly committed ventricular septal defect null http://www.orpha.net/ORDO/Orphanet_99047 node EFO_0009070 intellectual developmental disorder with dysmorphic facies and ptosis null http://www.ebi.ac.uk/efo/EFO_0009070 node Orphanet_1715 Trisomy 18p null http://www.orpha.net/ORDO/Orphanet_1715 node Orphanet_306561 Autosomal dominant childhood-onset cortical cataract null http://www.orpha.net/ORDO/Orphanet_306561 node EFO_0004063 AF16 null http://www.ebi.ac.uk/efo/EFO_0004063 node Orphanet_848 Beta-thalassemia null http://www.orpha.net/ORDO/Orphanet_848 node Orphanet_209047 Qualitative or quantitative defects of filamin C null http://www.orpha.net/ORDO/Orphanet_209047 node Orphanet_1538 Craniosynostosis - Dandy-Walker malformation - hydrocephalus null http://www.orpha.net/ORDO/Orphanet_1538 node EFO_0005952 non-Hodgkins lymphoma ALT_DEFINITION Any of a large group of cancers of lymphocytes (white blood cells). NHLs can occur at any age and are often marked by lymph nodes that are larger than normal, fever, and weight loss. There are many different types of NHL. These types can be divided into aggressive (fast-growing) and indolent (slow-growing) types, and they can be formed from either B-cells or T-cells. B-cell NHLs include Burkitt lymphoma, chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL), diffuse large B-cell lymphoma, follicular lymphoma, immunoblastic large cell lymphoma, precursor B-lymphoblastic lymphoma, and mantle cell lymphoma. T-cell NHLs include mycosis fungoides, anaplastic large cell lymphoma, and precursor T-lymphoblastic lymphoma. Lymphomas that occur after bone marrow or stem cell transplantation are usually B-cell NHLs. Prognosis and treatment depend on the stage and type of disease. A malignant neoplasm of the lymphatic system that is comprised of abnormal lymphocytes in the absence of Reed-Sternberg cells. http://www.ebi.ac.uk/efo/EFO_0005952 node Orphanet_98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay null http://www.orpha.net/ORDO/Orphanet_98 node EFO_1001451 X-Linked Combined Immunodeficiency Diseases null http://www.ebi.ac.uk/efo/EFO_1001451 node HP_0007780 Cortical pulverulent cataract null http://purl.obolibrary.org/obo/HP_0007780 node MONDO_0054743 polycystic liver disease 3 with or without kidney cysts null http://purl.obolibrary.org/obo/MONDO_0054743 node Orphanet_295132 Brachydactyly of toes, unilateral null http://www.orpha.net/ORDO/Orphanet_295132 node EFO_0005881 triglyceride homeostasis null http://www.ebi.ac.uk/efo/EFO_0005881 node EFO_0004954 melanoma staging null http://www.ebi.ac.uk/efo/EFO_0004954 node EFO_1001264 Anemia, Hemolytic, Autoimmune null http://www.ebi.ac.uk/efo/EFO_1001264 node EFO_0004310 partial thromboplastin time null http://www.ebi.ac.uk/efo/EFO_0004310 node HP_0002153 Hyperkalemia null http://purl.obolibrary.org/obo/HP_0002153 node EFO_0004767 visceral:subcutaneous adipose tissue ratio null http://www.ebi.ac.uk/efo/EFO_0004767 node EFO_0005694 KMS-11 null http://www.ebi.ac.uk/efo/EFO_0005694 node EFO_0010239 cortisol:DHEAS ratio measurement null http://www.ebi.ac.uk/efo/EFO_0010239 node Orphanet_91411 Congenital ptosis null http://www.orpha.net/ORDO/Orphanet_91411 node NCBITaxon_106788 Pachycladon novaezelandiae null http://purl.obolibrary.org/obo/NCBITaxon_106788 node Orphanet_1803 Thoracomelic dysplasia null http://www.orpha.net/ORDO/Orphanet_1803 node EFO_0002208 HuPT4 null http://www.ebi.ac.uk/efo/EFO_0002208 node PO_0007613 stamen primordium visible stage null http://purl.obolibrary.org/obo/PO_0007613 node EFO_0006756 SNU-601 null http://www.ebi.ac.uk/efo/EFO_0006756 node GO_0036275 response to 5' fluorouracil null http://purl.obolibrary.org/obo/GO_0036275 node HP_0002036 Hiatus hernia A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn). http://purl.obolibrary.org/obo/HP_0002036 node CHEBI_16027 adenosine 5'-monophosphate null http://purl.obolibrary.org/obo/CHEBI_16027 node CHEBI_64103 sodium butyrate null http://purl.obolibrary.org/obo/CHEBI_64103 node NCBITaxon_36090 Globodera pallida null http://purl.obolibrary.org/obo/NCBITaxon_36090 node CL_0000038 erythroid progenitor cell null http://purl.obolibrary.org/obo/CL_0000038 node MONDO_0018561 precocious puberty in female null http://purl.obolibrary.org/obo/MONDO_0018561 node Orphanet_247698 Multiple endocrine neoplasia type 2A null http://www.orpha.net/ORDO/Orphanet_247698 node CHEBI_22977 cadmium null http://purl.obolibrary.org/obo/CHEBI_22977 node EFO_0003036 clear cell null http://www.ebi.ac.uk/efo/EFO_0003036 node MONDO_0018837 postinfectious vasculitis null http://purl.obolibrary.org/obo/MONDO_0018837 node EFO_0002109 AGS null http://www.ebi.ac.uk/efo/EFO_0002109 node Orphanet_98687 Supranuclear oculomotor palsy Editor note: TODO review literature. Consider relationship to ocular nerve, supranuclear pathway includes other nerves http://www.orpha.net/ORDO/Orphanet_98687 node MONDO_0000065 microvascular complications of diabetes, susceptibility Editor note: relationship to diabetic angiopathy http://purl.obolibrary.org/obo/MONDO_0000065 node EFO_0006657 NCI-H1373 null http://www.ebi.ac.uk/efo/EFO_0006657 node Orphanet_262155 Partial deletion of the long arm of chromosome 19 null http://www.orpha.net/ORDO/Orphanet_262155 node UBERON_0011579 venom gland null http://purl.obolibrary.org/obo/UBERON_0011579 node CHEBI_29866 arsenite(3-) null http://purl.obolibrary.org/obo/CHEBI_29866 node MPATH_0 pathological entity null http://purl.obolibrary.org/obo/MPATH_0 node GO_0071704 organic substance metabolic process null http://purl.obolibrary.org/obo/GO_0071704 node EFO_0008788 m1A mapping null http://www.ebi.ac.uk/efo/EFO_0008788 node CHEBI_16336 hyaluronan null http://purl.obolibrary.org/obo/CHEBI_16336 node MONDO_0000153 transposition of the great arteries null http://purl.obolibrary.org/obo/MONDO_0000153 node EFO_0001824 hormone role null http://www.ebi.ac.uk/efo/EFO_0001824 node Orphanet_398156 Oculoauriculofrontonasal syndrome null http://www.orpha.net/ORDO/Orphanet_398156 node EFO_0007694 Caenorhabditis elegans larval stage null http://www.ebi.ac.uk/efo/EFO_0007694 node CHEBI_46828 quinolinate(1-) null http://purl.obolibrary.org/obo/CHEBI_46828 node Orphanet_262056 Partial deletion of the long arm of chromosome 7 null http://www.orpha.net/ORDO/Orphanet_262056 node HP_0003789 Minicore myopathy null http://purl.obolibrary.org/obo/HP_0003789 node NCBITaxon_1245 Leuconostoc mesenteroides null http://purl.obolibrary.org/obo/NCBITaxon_1245 node MONDO_0019453 refractory cytopenia with multilineage dysplasia null http://purl.obolibrary.org/obo/MONDO_0019453 node EFO_0008713 DMS-MapSeq null http://www.ebi.ac.uk/efo/EFO_0008713 node EFO_0008689 Circle-Seq null http://www.ebi.ac.uk/efo/EFO_0008689 node PO_0000293 guard cell null http://purl.obolibrary.org/obo/PO_0000293 node EFO_0009475 cervical polyp null http://www.ebi.ac.uk/efo/EFO_0009475 node EFO_0008526 status epilepticus Status epilepticus is a single epileptic seizure lasting more than five minutes or two or more seizures within a five-minute period without the person returning to normal between them. http://www.ebi.ac.uk/efo/EFO_0008526 node NCBITaxon_5141 Neurospora crassa null http://purl.obolibrary.org/obo/NCBITaxon_5141 node EFO_0007047 Toxoplasma gondii seropositivity null http://www.ebi.ac.uk/efo/EFO_0007047 node NCBITaxon_164110 Nicotiana langsdorffii x Nicotiana sanderae null http://purl.obolibrary.org/obo/NCBITaxon_164110 node Orphanet_3378 Trisomy 13 null http://www.orpha.net/ORDO/Orphanet_3378 node Orphanet_93971 Chudley-Lowry-Hoar syndrome null http://www.orpha.net/ORDO/Orphanet_93971 node UBERON_0000371 syncytiotrophoblast null http://purl.obolibrary.org/obo/UBERON_0000371 node HP_0009720 Adenoma sebaceum Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis. http://purl.obolibrary.org/obo/HP_0009720 node EFO_1000664 acrodermatitis null http://www.ebi.ac.uk/efo/EFO_1000664 node MONDO_0014842 intellectual disability, autosomal dominant 41 null http://purl.obolibrary.org/obo/MONDO_0014842 node EFO_0009563 protein energy malnutrition null http://www.ebi.ac.uk/efo/EFO_0009563 node EFO_0006361 A2058 null http://www.ebi.ac.uk/efo/EFO_0006361 node EFO_0008614 Iodine Deficiency Hypothyroidism null http://www.ebi.ac.uk/efo/EFO_0008614 node Orphanet_96125 Distal monosomy 6p null http://www.orpha.net/ORDO/Orphanet_96125 node EFO_0002688 obsolete_myelodysplastic syndrome (MDS)-like null http://www.ebi.ac.uk/efo/EFO_0002688 node EFO_0007135 adult-onset Still's disease Editor note: check if autoimmune http://www.ebi.ac.uk/efo/EFO_0007135 node CHEBI_133726 1,3-dimethylurate anion null http://purl.obolibrary.org/obo/CHEBI_133726 node Orphanet_347 Frasier syndrome null http://www.orpha.net/ORDO/Orphanet_347 node Orphanet_67048 3-methylglutaconic aciduria type 4 null http://www.orpha.net/ORDO/Orphanet_67048 node HP_0100825 Cheilitis It is associated with many conditions, including megaloblastic anemia from vitamin B12 deficiency, iron deficiency anemia (which in severe cases can lead to Plummer-Vinson syndrome) and oral candidiasis. It can also be a symptom of allergies, such as allergy to Balsam of Peru. Cheilitis can also be caused by taking the (retinoid) drug Isotretinoin. It may also be a pre-malignant lesion for squamous cell carcinoma. http://purl.obolibrary.org/obo/HP_0100825 node MONDO_0001318 functional gastric disease null http://purl.obolibrary.org/obo/MONDO_0001318 node HP_0000368 Low-set, posteriorly rotated ears This bundled term is left for convenience because of its common use in the literature. It is preferable to code each feature separately. http://purl.obolibrary.org/obo/HP_0000368 node EFO_0002072 MCF-7aro null http://www.ebi.ac.uk/efo/EFO_0002072 node EFO_0009786 encounter with health service null http://www.ebi.ac.uk/efo/EFO_0009786 node CL_0002024 Kit-positive megakaryocyte progenitor cell Markers are associated with mouse cells. http://purl.obolibrary.org/obo/CL_0002024 node MONDO_0003190 middle ear carcinoma null http://purl.obolibrary.org/obo/MONDO_0003190 node EFO_1000271 Gastric Hamartomatous Polyp null http://www.ebi.ac.uk/efo/EFO_1000271 node NCBITaxon_8032 Salmo trutta null http://purl.obolibrary.org/obo/NCBITaxon_8032 node Orphanet_370015 Spondyloepimetaphyseal dysplasia, Isidor type null http://www.orpha.net/ORDO/Orphanet_370015 node EFO_1000752 photosensitivity disease null http://www.ebi.ac.uk/efo/EFO_1000752 node EFO_0003774 hyperlipidemia null http://www.ebi.ac.uk/efo/EFO_0003774 node EFO_0009651 rag2 deficiency null http://www.ebi.ac.uk/efo/EFO_0009651 node UBERON_0001639 hepatic portal vein null http://purl.obolibrary.org/obo/UBERON_0001639 node EFO_0005497 pharyngeal muscle cell null http://www.ebi.ac.uk/efo/EFO_0005497 node EFO_1000565 Testicular Embryonal Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000565 node EFO_0002776 H0287 null http://www.ebi.ac.uk/efo/EFO_0002776 node Orphanet_276061 Genetic frontotemporal degeneration with dementia null http://www.orpha.net/ORDO/Orphanet_276061 node EFO_0003618 obsolete_neural arch null http://www.ebi.ac.uk/efo/EFO_0003618 node EFO_0002132 CHL1 null http://www.ebi.ac.uk/efo/EFO_0002132 node EFO_0001205 MDAMB134VI null http://www.ebi.ac.uk/efo/EFO_0001205 node EFO_0002599 obsolete_distal portion of circumflex branch of left coronary artery null http://www.ebi.ac.uk/efo/EFO_0002599 node MONDO_0001406 peripheral nervous system neoplasm null http://purl.obolibrary.org/obo/MONDO_0001406 node EFO_0001028 obsolete_fruit null http://www.ebi.ac.uk/efo/EFO_0001028 node Orphanet_2339 Keratosis follicularis - dwarfism - cerebral atrophy null http://www.orpha.net/ORDO/Orphanet_2339 node EFO_0009874 decreased anxiety-related response null http://www.ebi.ac.uk/efo/EFO_0009874 node EFO_1000817 apparent mineralocorticoid excess syndrome null http://www.ebi.ac.uk/efo/EFO_1000817 node Orphanet_108993 Non-syndromic respiratory or mediastinal malformation null http://www.orpha.net/ORDO/Orphanet_108993 node EFO_0010914 fatty acid-binding protein, adipocyte measurement null http://www.ebi.ac.uk/efo/EFO_0010914 node MONDO_0017599 splenic diffuse red pulp small B-cell lymphoma null http://purl.obolibrary.org/obo/MONDO_0017599 node UBERON_0001263 pancreatic acinus null http://purl.obolibrary.org/obo/UBERON_0001263 node EFO_0008230 mental development measurement null http://www.ebi.ac.uk/efo/EFO_0008230 node EFO_0004557 population measurement null http://www.ebi.ac.uk/efo/EFO_0004557 node Orphanet_3050 Intellectual disability - hypotonia - skin hyperpigmentation null http://www.orpha.net/ORDO/Orphanet_3050 node EFO_0002220 KLE null http://www.ebi.ac.uk/efo/EFO_0002220 node CHEBI_88768 CE(18:1(11Z)) null http://purl.obolibrary.org/obo/CHEBI_88768 node EFO_0001116 GM07357 null http://www.ebi.ac.uk/efo/EFO_0001116 node Orphanet_183592 Genetic renal tubular disease null http://www.orpha.net/ORDO/Orphanet_183592 node Orphanet_2427 Macrocephaly - short stature - paraplegia null http://www.orpha.net/ORDO/Orphanet_2427 node Orphanet_726 Alpers syndrome null http://www.orpha.net/ORDO/Orphanet_726 node MONDO_0033201 deafness, autosomal recessive 57 null http://purl.obolibrary.org/obo/MONDO_0033201 node MONDO_0100194 pregnancy associated osteoporosis null http://purl.obolibrary.org/obo/MONDO_0100194 node Orphanet_137776 Lethal congenital contracture syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_137776 node EFO_0005186 uterus fundus null http://www.ebi.ac.uk/efo/EFO_0005186 node Orphanet_42 Medium chain acyl-CoA dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_42 node EFO_0002922 normal cell line null http://www.ebi.ac.uk/efo/EFO_0002922 node EFO_0004164 Illumina native qseq format null http://www.ebi.ac.uk/efo/EFO_0004164 node CHEBI_50103 excitatory amino acid agonist null http://purl.obolibrary.org/obo/CHEBI_50103 node Orphanet_2198 Palmoplantar keratoderma-esophageal carcinoma syndrome null http://www.orpha.net/ORDO/Orphanet_2198 node CL_0000900 naive thymus-derived CD8-positive, alpha-beta T cell This cell traffics in secondary lymphoid organs and blood. This cell type is compatible with the HIPC Lyoplate markers for 'naive CD8+ T cell', but includes additional markers known to be expressed on naive CD8+ T cells. http://purl.obolibrary.org/obo/CL_0000900 node EFO_0000274 atopic eczema null http://www.ebi.ac.uk/efo/EFO_0000274 node CHEBI_64073 exendin-4 null http://purl.obolibrary.org/obo/CHEBI_64073 node EFO_0008131 fibronectin fragment 3 measurement null http://www.ebi.ac.uk/efo/EFO_0008131 node CHEBI_40992 N-acetyl-L-alanine null http://purl.obolibrary.org/obo/CHEBI_40992 node EFO_0009408 abnormal vaginal discharge smell null http://www.ebi.ac.uk/efo/EFO_0009408 node EFO_0003070 obsolete_buttock null http://www.ebi.ac.uk/efo/EFO_0003070 node Orphanet_88635 Myopathy due to calsequestrin and SERCA1 protein overload null http://www.orpha.net/ORDO/Orphanet_88635 node OMIT_0007336 Guanosine Monophosphate null http://purl.obolibrary.org/obo/OMIT_0007336 node CHEBI_7565 nifedipine null http://purl.obolibrary.org/obo/CHEBI_7565 node Orphanet_627 Nance-Horan syndrome null http://www.orpha.net/ORDO/Orphanet_627 node NCBITaxon_71139 Eucalyptus grandis null http://purl.obolibrary.org/obo/NCBITaxon_71139 node MONDO_0010318 FG syndrome 4 null http://purl.obolibrary.org/obo/MONDO_0010318 node EFO_0000837 obsolete_stomach null http://www.ebi.ac.uk/efo/EFO_0000837 node EFO_0004252 nasopharyngeal neoplasm null http://www.ebi.ac.uk/efo/EFO_0004252 node NCBITaxon_595 Salmonella enterica subsp. enterica serovar Infantis null http://purl.obolibrary.org/obo/NCBITaxon_595 node EFO_1001043 mesenteric vascular occlusion null http://www.ebi.ac.uk/efo/EFO_1001043 node EFO_0004065 HK104 null http://www.ebi.ac.uk/efo/EFO_0004065 node Orphanet_309827 Disorder of vitamin and non-protein cofactor absorption and transport  null http://www.orpha.net/ORDO/Orphanet_309827 node UBERON_0002428 limb bone null http://purl.obolibrary.org/obo/UBERON_0002428 node EFO_0006921 birth measurement null http://www.ebi.ac.uk/efo/EFO_0006921 node EFO_0000444 obsolete_embryonic central brain neuron null http://www.ebi.ac.uk/efo/EFO_0000444 node MONDO_0000172 muscular dystrophy-dystroglycanopathy, type B null http://purl.obolibrary.org/obo/MONDO_0000172 node EFO_0000925 obsolete_mushroom body null http://www.ebi.ac.uk/efo/EFO_0000925 node EFO_1001125 primary Bartonellaceae infectious disease null http://www.ebi.ac.uk/efo/EFO_1001125 node NCBITaxon_32507 Neolamprologus brichardi null http://purl.obolibrary.org/obo/NCBITaxon_32507 node Orphanet_2169 Methylcobalamin deficiency type cblE null http://www.orpha.net/ORDO/Orphanet_2169 node EFO_0006535 ATRFLOX null http://www.ebi.ac.uk/efo/EFO_0006535 node MONDO_0021653 cutaneous focal mucinosis null http://purl.obolibrary.org/obo/MONDO_0021653 node UBERON_2000136 otic lateral line neuromast null http://purl.obolibrary.org/obo/UBERON_2000136 node Orphanet_2994 Short stature - craniofacial anomalies - genital hypoplasia null http://www.orpha.net/ORDO/Orphanet_2994 node EFO_0000738 obsolete_white blood cell use leukocyte EFO_0000566 http://www.ebi.ac.uk/efo/EFO_0000738 node EFO_1001429 Subdural Effusion null http://www.ebi.ac.uk/efo/EFO_1001429 node EFO_0007297 HELLP syndrome null http://www.ebi.ac.uk/efo/EFO_0007297 node CL_0002429 CD69-positive double-positive thymocyte null http://purl.obolibrary.org/obo/CL_0002429 node EFO_0010047 assay by Fluidigm C1 microfluidics platform null http://www.ebi.ac.uk/efo/EFO_0010047 node UO_0000051 concentration unit null http://purl.obolibrary.org/obo/UO_0000051 node Orphanet_85443 AL amyloidosis null http://www.orpha.net/ORDO/Orphanet_85443 node EFO_0000532 host null http://www.ebi.ac.uk/efo/EFO_0000532 node EFO_1001213 tibial neuropathy null http://www.ebi.ac.uk/efo/EFO_1001213 node NCBITaxon_231049 Lactobacillus rossiae null http://purl.obolibrary.org/obo/NCBITaxon_231049 node MONDO_0002915 childhood infratentorial neoplasm null http://purl.obolibrary.org/obo/MONDO_0002915 node MONDO_0022519 autoimmune myocarditis null http://purl.obolibrary.org/obo/MONDO_0022519 node Orphanet_1434 Choroideremia - hypopituitarism null http://www.orpha.net/ORDO/Orphanet_1434 node EFO_0004716 obsolete_thyrotoxic periodic paralysis null http://www.ebi.ac.uk/efo/EFO_0004716 node EFO_0005643 ATC Code N Nervous system N NERVOUS SYSTEM N01 ANESTHETICS No DDDs have been established in this group because the doses used vary substantially. N02 ANALGESICS This group comprises general analgesics and antipyretics. All salicylic acid derivatives except combinations with corticosteroids are classified in N02BA - Salicylic acid and derivatives, as it is difficult to differentiate between the use of salicylates in rheumatic conditions and other therapeutic uses of salicylates. All plain ibuprofen preparations are classified in M01A, even if they are only intended for use as pain relief. Salicylic acid derivatives in combination with corticosteroids are classified in M01B. There are a number of combined preparations, which contain analgesics and psycholeptics. These are classified in N02, as pain relief must be regarded as the main indication. Analgesics used for specific indications are classified in the respective ATC groups. E.g.: A03D/ A03EA - Antispasmodic/psycholeptics/analgesic combinations M01 - Antiinflammatory and antirheumatic products M02A - Topical products for joint and muscular pain M03 - Muscle relaxants See comments to these groups. Lidocaine indicated for postherpetic pain is classified in N01BB. N03 ANTIEPILEPTICS N04 ANTI-PARKINSON DRUGS This group comprises preparations used in the treatment of Parkinson's disease and related conditions, including drug-induced parkinsonism. The DDDs are based on recommended doses for the long-term treatment of symptoms of Parkinson's disease. No separate DDDs are established for oral depot formulations. N05 PSYCHOLEPTICS The group is divided into therapeutic subgroups: N05A - Antipsychotics N05B - Anxiolytics N05C - Hypnotics and sedatives N06 PSYCHOANALEPTICS This group comprises antidepressants, psychostimulants, nootropics anti-dementia drugs and combinations with psycholeptics. Antiobesity preparations are classified in A08 - Antiobesity preparations, excl. diet products. N07 OTHER NERVOUS SYSTEM DRUGS This group comprises other nervous system drugs, which cannot be classified in the preceding 2nd levels in ATC group N. http://www.ebi.ac.uk/efo/EFO_0005643 node EFO_1000899 diastolic heart failure null http://www.ebi.ac.uk/efo/EFO_1000899 node EFO_0007385 mushroom workers' lung null http://www.ebi.ac.uk/efo/EFO_0007385 node Orphanet_99791 Dentin dysplasia type II null http://www.orpha.net/ORDO/Orphanet_99791 node EFO_1000683 cutaneous diphtheria null http://www.ebi.ac.uk/efo/EFO_1000683 node EFO_1001301 Cubital Tunnel Syndrome null http://www.ebi.ac.uk/efo/EFO_1001301 node MONDO_0030030 Nizon-Isidor syndrome null http://purl.obolibrary.org/obo/MONDO_0030030 node GO_0097336 response to risperidone null http://purl.obolibrary.org/obo/GO_0097336 node MONDO_0002816 adrenal cortex disease null http://purl.obolibrary.org/obo/MONDO_0002816 node HP_0002793 Abnormal pattern of respiration null http://purl.obolibrary.org/obo/HP_0002793 node Orphanet_329918 Non-immunoglobulin-mediated membranoproliferative glomerulonephritis null http://www.orpha.net/ORDO/Orphanet_329918 node EFO_0007473 Ritter's disease null http://www.ebi.ac.uk/efo/EFO_0007473 node CLO_0013784 GM17186 null http://purl.obolibrary.org/obo/CLO_0013784 node Orphanet_163693 2p21 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_163693 node GO_0009415 response to water stimulus null http://purl.obolibrary.org/obo/GO_0009415 node Orphanet_2312 Transient familial neonatal hyperbilirubinemia null http://www.orpha.net/ORDO/Orphanet_2312 node HP_0011009 Acute The word acute is applied to different time scales depending on the disease or manifestation and does not have an exact definition in minutes, hours, or days. http://purl.obolibrary.org/obo/HP_0011009 node EFO_0007696 larval protruding mouth null http://www.ebi.ac.uk/efo/EFO_0007696 node Orphanet_217563 Neonatal acute respiratory distress with surfactant metabolism deficiency null http://www.orpha.net/ORDO/Orphanet_217563 node UBERON_0001896 medulla oblongata null http://purl.obolibrary.org/obo/UBERON_0001896 node Orphanet_200037 Paroxysmal dystonia null http://www.orpha.net/ORDO/Orphanet_200037 node EFO_0009477 vertebral joint disease null http://www.ebi.ac.uk/efo/EFO_0009477 node EFO_0002853 RM 82 null http://www.ebi.ac.uk/efo/EFO_0002853 node Orphanet_397692 Hereditary isolated aplastic anemia null http://www.orpha.net/ORDO/Orphanet_397692 node EFO_0009958 response to bisphosphonate null http://www.ebi.ac.uk/efo/EFO_0009958 node EFO_0007803 emotional symptom measurement null http://www.ebi.ac.uk/efo/EFO_0007803 node EFO_0001190 HMEC184 null http://www.ebi.ac.uk/efo/EFO_0001190 node CHEBI_65097 2-hydroxypalmitate null http://purl.obolibrary.org/obo/CHEBI_65097 node MONDO_0015938 systemic disease null http://purl.obolibrary.org/obo/MONDO_0015938 node CL_0000870 Peyer's patch macrophage null http://purl.obolibrary.org/obo/CL_0000870 node EFO_0009565 radiation-induced disorder null http://www.ebi.ac.uk/efo/EFO_0009565 node EFO_0002941 transcription profiling by SAGE null http://www.ebi.ac.uk/efo/EFO_0002941 node Orphanet_600 Distal myopathy with vocal cord weakness null http://www.orpha.net/ORDO/Orphanet_600 node Orphanet_294931 Adactyly of hand null http://www.orpha.net/ORDO/Orphanet_294931 node CLO_0031260 GM14447 null http://purl.obolibrary.org/obo/CLO_0031260 node MONDO_0020847 mental retardation, autosomal dominant 58 null http://purl.obolibrary.org/obo/MONDO_0020847 node MONDO_0019038 rare maxillo-facial surgical disease null http://purl.obolibrary.org/obo/MONDO_0019038 node EFO_0002074 PC-3 null http://www.ebi.ac.uk/efo/EFO_0002074 node Orphanet_102020 Autosomal monosomy null http://www.orpha.net/ORDO/Orphanet_102020 node EFO_1001295 microscopic colitis null http://www.ebi.ac.uk/efo/EFO_1001295 node Orphanet_254519 Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect null http://www.orpha.net/ORDO/Orphanet_254519 node PO_0007605 androecium development stage null http://purl.obolibrary.org/obo/PO_0007605 node HP_0005613 Aplasia/hypoplasia of the femur null http://purl.obolibrary.org/obo/HP_0005613 node MP_0001914 hemorrhage null http://purl.obolibrary.org/obo/MP_0001914 node EFO_1001997 obsolete_triple-A syndrome DOID xref and synonyms http://www.ebi.ac.uk/efo/EFO_1001997 node MONDO_0016625 acquired deficiency anemia null http://purl.obolibrary.org/obo/MONDO_0016625 node Orphanet_404463 Multisystemic smooth muscle dysfunction syndrome null http://www.orpha.net/ORDO/Orphanet_404463 node EFO_1001402 postencephalitic Parkinson disease null http://www.ebi.ac.uk/efo/EFO_1001402 node EFO_0005351 GM19193 null http://www.ebi.ac.uk/efo/EFO_0005351 node EFO_0009254 optic nerve glioblastoma null http://www.ebi.ac.uk/efo/EFO_0009254 node EFO_0004905 induced pluripotent stem cell Submitted by Nancy Mah http://www.ebi.ac.uk/efo/EFO_0004905 node Orphanet_1797 Autosomal dominant spondylocostal dysostosis null http://www.orpha.net/ORDO/Orphanet_1797 node NCBITaxon_672 Vibrio vulnificus null http://purl.obolibrary.org/obo/NCBITaxon_672 node MONDO_0004750 language disorder null http://purl.obolibrary.org/obo/MONDO_0004750 node EFO_0004810 interleukin-6 measurement null http://www.ebi.ac.uk/efo/EFO_0004810 node EFO_0009067 combined partial 17-alpha-hydroxylase/17,20-lyase deficiency null http://www.ebi.ac.uk/efo/EFO_0009067 node CHEBI_46793 polyethylene glycol null http://purl.obolibrary.org/obo/CHEBI_46793 node MONDO_0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor Editor note: this is a leaf class in NCIT but Orphanet includes various classifications, e.g. ependymoblastoma http://purl.obolibrary.org/obo/MONDO_0016713 node EFO_0005949 antinuclear antibody measurement null http://www.ebi.ac.uk/efo/EFO_0005949 node EFO_0005878 vitamin deficiency null http://www.ebi.ac.uk/efo/EFO_0005878 node GO_0030431 sleep null http://purl.obolibrary.org/obo/GO_0030431 node EFO_0003465 obsolete_posterior pancreatic bud null http://www.ebi.ac.uk/efo/EFO_0003465 node EFO_0004512 bone measurement null http://www.ebi.ac.uk/efo/EFO_0004512 node EFO_0004307 glucose tolerance test null http://www.ebi.ac.uk/efo/EFO_0004307 node CL_0002370 respiratory goblet cell null http://purl.obolibrary.org/obo/CL_0002370 node Orphanet_79395 Keratoderma hereditarium mutilans with ichthyosis null http://www.orpha.net/ORDO/Orphanet_79395 node EFO_1001303 Deltaretrovirus Infections null http://www.ebi.ac.uk/efo/EFO_1001303 node MONDO_0007354 coloboma of optic nerve (disease) null http://purl.obolibrary.org/obo/MONDO_0007354 node MONDO_0020143 cerebral lipidosis with dementia null http://purl.obolibrary.org/obo/MONDO_0020143 node EFO_0009155 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy null http://www.ebi.ac.uk/efo/EFO_0009155 node EFO_0010761 adenosine deaminase measurement null http://www.ebi.ac.uk/efo/EFO_0010761 node EFO_0000616 neoplasm null http://www.ebi.ac.uk/efo/EFO_0000616 node Orphanet_84093 Hereditary thermosensitive neuropathy null http://www.orpha.net/ORDO/Orphanet_84093 node Orphanet_2890 Pili torti - onychodysplasia null http://www.orpha.net/ORDO/Orphanet_2890 node EFO_1000050 renal leiomyoma PMID:22511443 http://www.ebi.ac.uk/efo/EFO_1000050 node EFO_0007885 JT interval null http://www.ebi.ac.uk/efo/EFO_0007885 node HP_0011120 Concave nasal ridge A saddle-nose deformity can be congenital or acquired (e.g., traumatic) and is associated with structural compromise of the nasoseptal cartilage leading to decreased dorsal nasal structural support. A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum. http://purl.obolibrary.org/obo/HP_0011120 node HP_0011096 Peripheral demyelination This feature is generally diagnosed on the basis of a sural nerve biopsy. Demyelination is associated with slowed nerve conduction, increased refractoriness, and conduction block. http://purl.obolibrary.org/obo/HP_0011096 node EFO_0003553 obsolete_entopterygoid null http://www.ebi.ac.uk/efo/EFO_0003553 node MONDO_0000638 benign glioma null http://purl.obolibrary.org/obo/MONDO_0000638 node MONDO_0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade null http://purl.obolibrary.org/obo/MONDO_0002995 node MONDO_0018745 superficial pemphigus null http://purl.obolibrary.org/obo/MONDO_0018745 node Orphanet_331244 Other immunodeficiency syndrome with predominantly antibody defects Editor note: consider merging http://www.orpha.net/ORDO/Orphanet_331244 node EFO_0006700 NU-DUL-1 null http://www.ebi.ac.uk/efo/EFO_0006700 node MONDO_0044710 lip and oral cavity squamous cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0044710 node Orphanet_231160 Familial cerebral saccular aneurysm null http://www.orpha.net/ORDO/Orphanet_231160 node HP_0011341 Long upper lip null http://purl.obolibrary.org/obo/HP_0011341 node UBERON_0000474 female reproductive system null http://purl.obolibrary.org/obo/UBERON_0000474 node CHEBI_27468 5,6-dihydrothymine null http://purl.obolibrary.org/obo/CHEBI_27468 node NCBITaxon_47715 Lactobacillus rhamnosus null http://purl.obolibrary.org/obo/NCBITaxon_47715 node MONDO_0018558 syndrome with woolly hair null http://purl.obolibrary.org/obo/MONDO_0018558 node EFO_0000223 acute myelomonocytic leukemia null http://www.ebi.ac.uk/efo/EFO_0000223 node NCBITaxon_199310 Escherichia coli CFT073 null http://purl.obolibrary.org/obo/NCBITaxon_199310 node Orphanet_1125 Ocular motor apraxia, Cogan type null http://www.orpha.net/ORDO/Orphanet_1125 node EFO_0010212 sample barcode size null http://www.ebi.ac.uk/efo/EFO_0010212 node EFO_0008739 fC-CET null http://www.ebi.ac.uk/efo/EFO_0008739 node EFO_0000036 CS57619 null http://www.ebi.ac.uk/efo/EFO_0000036 node EFO_0005334 GM10248 null http://www.ebi.ac.uk/efo/EFO_0005334 node EFO_0007768 response to exercise null http://www.ebi.ac.uk/efo/EFO_0007768 node UBERON_0004851 aorta endothelium null http://purl.obolibrary.org/obo/UBERON_0004851 node GO_0006487 protein N-linked glycosylation null http://purl.obolibrary.org/obo/GO_0006487 node MONDO_0045034 infectious disease characteristic null http://purl.obolibrary.org/obo/MONDO_0045034 node Orphanet_98631 Secondary dysgenetic glaucoma null http://www.orpha.net/ORDO/Orphanet_98631 node HP_0009933 Narrow naris null http://purl.obolibrary.org/obo/HP_0009933 node CHEBI_15075 selenate null http://purl.obolibrary.org/obo/CHEBI_15075 node Orphanet_213524 Hereditary site-specific ovarian cancer syndrome null http://www.orpha.net/ORDO/Orphanet_213524 node EFO_0010300 corpus collosum mid-posterior volume measurement null http://www.ebi.ac.uk/efo/EFO_0010300 node EFO_0009931 Agents acting on the renin-angiotensin system use measurement null http://www.ebi.ac.uk/efo/EFO_0009931 node CLO_0027048 ND00397 null http://purl.obolibrary.org/obo/CLO_0027048 node EFO_0007550 high content screen null http://www.ebi.ac.uk/efo/EFO_0007550 node EFO_0008827 NG Capture-C null http://www.ebi.ac.uk/efo/EFO_0008827 node EFO_0007299 hemorrhagic fever with renal syndrome null http://www.ebi.ac.uk/efo/EFO_0007299 node EFO_0008346 family history of upper gastrointestinal cancer null http://www.ebi.ac.uk/efo/EFO_0008346 node UBERON_0014454 visceral abdominal adipose tissue null http://purl.obolibrary.org/obo/UBERON_0014454 node MONDO_0021063 malignant colon neoplasm null http://purl.obolibrary.org/obo/MONDO_0021063 node NCBITaxon_357 Agrobacterium null http://purl.obolibrary.org/obo/NCBITaxon_357 node EFO_0000124 CS57810 null http://www.ebi.ac.uk/efo/EFO_0000124 node EFO_0005422 skin aging null http://www.ebi.ac.uk/efo/EFO_0005422 node MONDO_0008672 Watson syndrome null http://purl.obolibrary.org/obo/MONDO_0008672 node EFO_0005235 primitive neuroectodermal tumor Editor note: TODO check relationship to neuroepithelioma http://www.ebi.ac.uk/efo/EFO_0005235 node CLO_0016499 GM17811 null http://purl.obolibrary.org/obo/CLO_0016499 node NCBITaxon_6500 Aplysia californica null http://purl.obolibrary.org/obo/NCBITaxon_6500 node HP_0009816 Lower limb undergrowth null http://purl.obolibrary.org/obo/HP_0009816 node EFO_0007387 Mycoplasma pneumoniae pneumonia null http://www.ebi.ac.uk/efo/EFO_0007387 node EFO_0008434 initial pursuit acceleration null http://www.ebi.ac.uk/efo/EFO_0008434 node EFO_0008229 melanoma-derived growth regulatory protein measurement null http://www.ebi.ac.uk/efo/EFO_0008229 node MONDO_0001342 dysgammaglobulinemia (disease) null http://purl.obolibrary.org/obo/MONDO_0001342 node MONDO_0000415 adolescence-adult electroclinical syndrome null http://purl.obolibrary.org/obo/MONDO_0000415 node MONDO_0001563 vestibulocochlear nerve disease null http://purl.obolibrary.org/obo/MONDO_0001563 node EFO_0008035 beta-nerve growth factor measurement null http://www.ebi.ac.uk/efo/EFO_0008035 node EFO_1001970 squamous papilloma null http://www.ebi.ac.uk/efo/EFO_1001970 node EFO_0008317 very low density lipoprotein cholesterol measurement null http://www.ebi.ac.uk/efo/EFO_0008317 node HP_0001252 Muscular hypotonia null http://purl.obolibrary.org/obo/HP_0001252 node Orphanet_3263 Syngnathia - cleft palate null http://www.orpha.net/ORDO/Orphanet_3263 node MONDO_0008959 CHAND syndrome null http://purl.obolibrary.org/obo/MONDO_0008959 node EFO_0007076 ES-I3 null http://www.ebi.ac.uk/efo/EFO_0007076 node EFO_0008123 ephrin type-A receptor 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008123 node EFO_1001372 Monieziasis null http://www.ebi.ac.uk/efo/EFO_1001372 node EFO_0002632 obsolete_left ventricular noncompaction null http://www.ebi.ac.uk/efo/EFO_0002632 node EFO_0003958 sunburn null http://www.ebi.ac.uk/efo/EFO_0003958 node EFO_1001853 submandibular gland neoplasm null http://www.ebi.ac.uk/efo/EFO_1001853 node EFO_0004875 mathematical ability null http://www.ebi.ac.uk/efo/EFO_0004875 node Orphanet_2211 Hypertelorism - hypospadias - polysyndactyly syndrome null http://www.orpha.net/ORDO/Orphanet_2211 node EFO_1000268 Gastric Adenoma null http://www.ebi.ac.uk/efo/EFO_1000268 node Orphanet_230845 Ehlers-Danlos syndrome, vascular-like type null http://www.orpha.net/ORDO/Orphanet_230845 node EFO_1000749 pemphigus null http://www.ebi.ac.uk/efo/EFO_1000749 node Orphanet_3351 Trichodental syndrome null http://www.orpha.net/ORDO/Orphanet_3351 node EFO_0001977 obsolete_palatine tonsil null http://www.ebi.ac.uk/efo/EFO_0001977 node Orphanet_269212 Isolated Dandy-Walker malformation with hydrocephalus null http://www.orpha.net/ORDO/Orphanet_269212 node EFO_0009730 polyarticular juvenile idiopathic arthritis null http://www.ebi.ac.uk/efo/EFO_0009730 node Orphanet_231742 Epibulbar lipodermoid - preauricular appendage - polythelia null http://www.orpha.net/ORDO/Orphanet_231742 node Orphanet_231671 Isolated growth hormone deficiency type IB null http://www.orpha.net/ORDO/Orphanet_231671 node EFO_0010294 cingulate cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010294 node EFO_0001287 cleavage 4-cell null http://www.ebi.ac.uk/efo/EFO_0001287 node MONDO_0002507 gingival overgrowth null http://purl.obolibrary.org/obo/MONDO_0002507 node EFO_0002334 SKMES1 null http://www.ebi.ac.uk/efo/EFO_0002334 node EFO_0002129 obsolete_CEMC1 null http://www.ebi.ac.uk/efo/EFO_0002129 node Orphanet_1707 Distal trisomy 15q null http://www.orpha.net/ORDO/Orphanet_1707 node CL_0000192 smooth muscle cell null http://purl.obolibrary.org/obo/CL_0000192 node EFO_0008211 low affinity immunoglobulin gamma Fc region receptor II-a/b measurement null http://www.ebi.ac.uk/efo/EFO_0008211 node EFO_0010692 subcutaneous tissue infection null http://www.ebi.ac.uk/efo/EFO_0010692 node EFO_1001460 diverticulitis null http://www.ebi.ac.uk/efo/EFO_1001460 node EFO_0004963 gene knock in null http://www.ebi.ac.uk/efo/EFO_0004963 node EFO_1000356 Malignant Mixed Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000356 node HP_0025354 Abnormal cellular phenotype null http://purl.obolibrary.org/obo/HP_0025354 node NCBITaxon_198094 Bacillus anthracis str. Ames null http://purl.obolibrary.org/obo/NCBITaxon_198094 node BTO_0000332 culture condition:dark-grown cell null http://purl.obolibrary.org/obo/BTO_0000332 node CL_0000809 double-positive, alpha-beta thymocyte Thymocytes of this stage are undergoing positive and negative selection. http://purl.obolibrary.org/obo/CL_0000809 node CHEBI_64211 8-bromo-3',5'-cyclic AMP null http://purl.obolibrary.org/obo/CHEBI_64211 node Orphanet_70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type null http://www.orpha.net/ORDO/Orphanet_70472 node EFO_0002217 KATOIII null http://www.ebi.ac.uk/efo/EFO_0002217 node UBERON_2000692 symplectic When the interhyal bone or cartilage is present it articulates at the articulation of the hyomandibula and symplectic. http://purl.obolibrary.org/obo/UBERON_2000692 node EFO_0000791 obsolete_cardiovascular system null http://www.ebi.ac.uk/efo/EFO_0000791 node Orphanet_183589 Genetic thrombotic microangiopathy null http://www.orpha.net/ORDO/Orphanet_183589 node EFO_0010780 CXCL9 measurement null http://www.ebi.ac.uk/efo/EFO_0010780 node HP_0033006 Diffuse alveolar damage null http://purl.obolibrary.org/obo/HP_0033006 node MONDO_0036688 rhabdomyoma null http://purl.obolibrary.org/obo/MONDO_0036688 node MONDO_0016404 metabolic neurotransmission anomaly with epilepsy null http://purl.obolibrary.org/obo/MONDO_0016404 node Orphanet_171607 X-linked spastic paraplegia type 34 null http://www.orpha.net/ORDO/Orphanet_171607 node EFO_0002919 uterine carcinoma null http://www.ebi.ac.uk/efo/EFO_0002919 node HP_0002250 Abnormal large intestine morphology The large intestine comprises the cecum and colon. http://purl.obolibrary.org/obo/HP_0002250 node EFO_0003156 obsolete_Caucasian null http://www.ebi.ac.uk/efo/EFO_0003156 node EFO_0004203 Illumina HiSeq 2000 null http://www.ebi.ac.uk/efo/EFO_0004203 node EFO_0002305 NCI-H810 null http://www.ebi.ac.uk/efo/EFO_0002305 node HP_0100504 Low levels of vitamin B2 null http://purl.obolibrary.org/obo/HP_0100504 node HP_0011841 Ventricular flutter If untreated, ventricular flutter typically progresses to ventricular fibrillation. http://purl.obolibrary.org/obo/HP_0011841 node CHEBI_18344 kynurenic acid null http://purl.obolibrary.org/obo/CHEBI_18344 node CHEBI_8871 risperidone null http://purl.obolibrary.org/obo/CHEBI_8871 node MONDO_0044209 disorder of lectin complement activation pathway null http://purl.obolibrary.org/obo/MONDO_0044209 node EFO_0003630 obsolete_urogenital papilla null http://www.ebi.ac.uk/efo/EFO_0003630 node EFO_0005353 GM12801 null http://www.ebi.ac.uk/efo/EFO_0005353 node CLO_0013943 GM17145 null http://purl.obolibrary.org/obo/CLO_0013943 node Orphanet_96191 Paternal uniparental disomy of chromosome 6 null http://www.orpha.net/ORDO/Orphanet_96191 node HP_0001310 Dysmetria Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. Dysmetria can be assessed clinically by the finger chase test, whereby the examiner and the proband are sitting, and the examiner suddenly moves his or her finger five times in an unpredictable direction in a frontal plane, with movements having an amplitude of about 30 cm and a frequency of once every two seconds. The proband is asked to follow the movements with his or her index finger. The test is abnormal if the proband substantially under- or overshoots or cannot perform pointing movements at all. The finger-nose-finger test is similar, and the proband is asked to alternately touch his or her own nose and then to point to the finger of the examiner. http://purl.obolibrary.org/obo/HP_0001310 node CHEBI_32585 4-hydroxy-2-nonenal null http://purl.obolibrary.org/obo/CHEBI_32585 node Orphanet_262164 Partial deletion of the long arm of chromosome 20 null http://www.orpha.net/ORDO/Orphanet_262164 node Orphanet_1278 Brachydactyly - preaxial hallux varus null http://www.orpha.net/ORDO/Orphanet_1278 node EFO_0006649 MFM-223 null http://www.ebi.ac.uk/efo/EFO_0006649 node Orphanet_114 Auriculoosteodysplasia null http://www.orpha.net/ORDO/Orphanet_114 node MONDO_0030918 intellectual disability, autosomal dominant 52 null http://purl.obolibrary.org/obo/MONDO_0030918 node UBERON_2000813 infraorbital lateral line neuromast null http://purl.obolibrary.org/obo/UBERON_2000813 node Orphanet_168632 Generalized basaloid follicular hamartoma syndrome null http://www.orpha.net/ORDO/Orphanet_168632 node NCBITaxon_230603 Saccharomyces uvarum null http://purl.obolibrary.org/obo/NCBITaxon_230603 node GO_0097328 response to carboplatin null http://purl.obolibrary.org/obo/GO_0097328 node Orphanet_329971 Generalized juvenile polyposis/juvenile polyposis coli null http://www.orpha.net/ORDO/Orphanet_329971 node EFO_0008797 MATQ-seq null http://www.ebi.ac.uk/efo/EFO_0008797 node Orphanet_2230 Hypogonadotropic hypogonadism - frontoparietal alopecia null http://www.orpha.net/ORDO/Orphanet_2230 node CHEBI_37758 iodoform null http://purl.obolibrary.org/obo/CHEBI_37758 node HP_0008770 Obsessive-compulsive trait null http://purl.obolibrary.org/obo/HP_0008770 node UBERON_0011189 lamina propria of large intestine null http://purl.obolibrary.org/obo/UBERON_0011189 node EFO_0005739 obsolete_induced pluripotent stem cell null http://www.ebi.ac.uk/efo/EFO_0005739 node CHEBI_17245 carbon monoxide null http://purl.obolibrary.org/obo/CHEBI_17245 node CHEBI_31746 kainic acid null http://purl.obolibrary.org/obo/CHEBI_31746 node Orphanet_79256 GM1 gangliosidosis type 2 null http://www.orpha.net/ORDO/Orphanet_79256 node Orphanet_96092 8p inverted duplication/deletion syndrome null http://www.orpha.net/ORDO/Orphanet_96092 node Orphanet_306507 LAMB2-related infantile-onset nephrotic syndrome null http://www.orpha.net/ORDO/Orphanet_306507 node MONDO_0002283 neuroaxonal dystrophy null http://purl.obolibrary.org/obo/MONDO_0002283 node EFO_0004094 scanned image null http://www.ebi.ac.uk/efo/EFO_0004094 node EFO_0008885 RC-Seq null http://www.ebi.ac.uk/efo/EFO_0008885 node MONDO_0021140 congenital null http://purl.obolibrary.org/obo/MONDO_0021140 node EFO_0008904 scATAC-seq (Microfluidics) null http://www.ebi.ac.uk/efo/EFO_0008904 node NCBITaxon_915 Nitrosomonas europaea null http://purl.obolibrary.org/obo/NCBITaxon_915 node NCBITaxon_239770 Pyrus hybrid cultivar null http://purl.obolibrary.org/obo/NCBITaxon_239770 node EFO_0008691 CirSeq null http://www.ebi.ac.uk/efo/EFO_0008691 node EFO_0008486 male homosexuality null http://www.ebi.ac.uk/efo/EFO_0008486 node Orphanet_79157 2-methylbutyryl-CoA dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_79157 node CHEBI_75168 1-oleoyl-sn-glycero-3-phosphoethanolamine null http://purl.obolibrary.org/obo/CHEBI_75168 node EFO_0007945 agoraphobia symptom measurement null http://www.ebi.ac.uk/efo/EFO_0007945 node CL_0001028 CD7-positive lymphoid progenitor cell These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000040)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001028 node MONDO_0060627 glycosylphosphatidylinositol biosynthesis defect 15 null http://purl.obolibrary.org/obo/MONDO_0060627 node EFO_0002884 mammary gland cell line null http://www.ebi.ac.uk/efo/EFO_0002884 node Orphanet_399058 Alpha-B crystallin-related late-onset distal myopathy null http://www.orpha.net/ORDO/Orphanet_399058 node Orphanet_300319 Autosomal dominant Charcot-Marie-Tooth disease type 2P null http://www.orpha.net/ORDO/Orphanet_300319 node Orphanet_140927 Benign familial neonatal-infantile seizures null http://www.orpha.net/ORDO/Orphanet_140927 node UBERON_0006595 presumptive endoderm null http://purl.obolibrary.org/obo/UBERON_0006595 node EFO_0002697 assay by high throughput sequencer null http://www.ebi.ac.uk/efo/EFO_0002697 node Orphanet_180766 Malformative syndrome with dentinogenesis imperfecta null http://www.orpha.net/ORDO/Orphanet_180766 node EFO_0008574 gangrene null http://www.ebi.ac.uk/efo/EFO_0008574 node MONDO_0024512 spondyloarthropathy, susceptibility to null http://purl.obolibrary.org/obo/MONDO_0024512 node Orphanet_93399 juvenile sialidosis type II null http://www.orpha.net/ORDO/Orphanet_93399 node EFO_0007552 high content screen of cells in a gene deletion library null http://www.ebi.ac.uk/efo/EFO_0007552 node Orphanet_169355 Immunodeficiency syndrome with autoimmunity null http://www.orpha.net/ORDO/Orphanet_169355 node UBERON_0000423 eccrine sweat gland null http://purl.obolibrary.org/obo/UBERON_0000423 node Orphanet_99876 Ehlers-Danlos syndrome type 7B null http://www.orpha.net/ORDO/Orphanet_99876 node HP_0100763 Abnormality of the lymphatic system null http://purl.obolibrary.org/obo/HP_0100763 node NCBITaxon_122586 Neisseria meningitidis MC58 null http://purl.obolibrary.org/obo/NCBITaxon_122586 node CL_0002033 short term hematopoietic stem cell Markers are associated with mouse cells. These cells are also reportedly CD11b-low and CD90-low. http://purl.obolibrary.org/obo/CL_0002033 node CL_0002441 CD94-positive natural killer cell, mouse null http://purl.obolibrary.org/obo/CL_0002441 node MONDO_0003546 third cranial nerve disease null http://purl.obolibrary.org/obo/MONDO_0003546 node HP_0000171 Microglossia Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. http://purl.obolibrary.org/obo/HP_0000171 node Orphanet_2717 Oculotrichoanal syndrome null http://www.orpha.net/ORDO/Orphanet_2717 node EFO_0002785 GM12891 null http://www.ebi.ac.uk/efo/EFO_0002785 node EFO_0007640 embryonic day 12 null http://www.ebi.ac.uk/efo/EFO_0007640 node HP_0000465 Webbed neck null http://purl.obolibrary.org/obo/HP_0000465 node MONDO_0020927 postaxial polydactyly Editor note: consider merge with MONDO:0017426 see https://github.com/monarch-initiative/mondo/issues/1346 http://purl.obolibrary.org/obo/MONDO_0020927 node Orphanet_852 X-linked thrombocytopenia with normal platelets null http://www.orpha.net/ORDO/Orphanet_852 node HP_0100851 Abnormal emotion/affect behavior null http://purl.obolibrary.org/obo/HP_0100851 node MONDO_0008903 lung cancer null http://purl.obolibrary.org/obo/MONDO_0008903 node MONDO_0043765 presbycusis null http://purl.obolibrary.org/obo/MONDO_0043765 node EFO_0009679 paraplegia null http://www.ebi.ac.uk/efo/EFO_0009679 node CHEBI_25212 metabolite role null http://purl.obolibrary.org/obo/CHEBI_25212 node EFO_0004771 visual cortical surface area measurement null http://www.ebi.ac.uk/efo/EFO_0004771 node EFO_0004566 body weight gain null http://www.ebi.ac.uk/efo/EFO_0004566 node Orphanet_2805 Partial pancreatic agenesis null http://www.orpha.net/ORDO/Orphanet_2805 node EFO_0009516 burn null http://www.ebi.ac.uk/efo/EFO_0009516 node NCBITaxon_6131 Acropora palmata null http://purl.obolibrary.org/obo/NCBITaxon_6131 node Orphanet_3042 Intellectual disability - cataracts - calcified pinnae - myopathy null http://www.orpha.net/ORDO/Orphanet_3042 node EFO_0008037 BMI-adjusted fasting blood insulin measurement null http://www.ebi.ac.uk/efo/EFO_0008037 node EFO_0008518 polymyalgia rheumatica Polymyalgia rheumatica is a syndrome with pain or stiffness, usually in the neck, shoulders, upper arms, and hips, but which may occur all over the body. http://www.ebi.ac.uk/efo/EFO_0008518 node HP_0000072 Hydroureter null http://purl.obolibrary.org/obo/HP_0000072 node HP_0032153 Joint subluxation null http://purl.obolibrary.org/obo/HP_0032153 node CHEBI_16856 glutathione null http://purl.obolibrary.org/obo/CHEBI_16856 node EFO_0001054 leprosy null http://www.ebi.ac.uk/efo/EFO_0001054 node MONDO_0003165 cerebellar astrocytoma null http://purl.obolibrary.org/obo/MONDO_0003165 node EFO_0000470 environmental stress treatment null http://www.ebi.ac.uk/efo/EFO_0000470 node Orphanet_93963 Autosomal dominant focal dystonia, DYT7 type null http://www.orpha.net/ORDO/Orphanet_93963 node EFO_1001151 renal glycosuria null http://www.ebi.ac.uk/efo/EFO_1001151 node EFO_0009604 labyrinthitis Note that DO has distinct classes for both labyrinthitis and otitis interna. These are generally regarded as synonyms. We intentionally make these two classes equivalent. However, the DO class may potentially represent the infectious form, although the sub/superclass relationships are inverted if this is the case. http://www.ebi.ac.uk/efo/EFO_0009604 node NCBITaxon_4952 Yarrowia lipolytica null http://purl.obolibrary.org/obo/NCBITaxon_4952 node CHEBI_64065 CGP 78608 hydrochloride null http://purl.obolibrary.org/obo/CHEBI_64065 node EFO_0008125 estrogen receptor measurement null http://www.ebi.ac.uk/efo/EFO_0008125 node Orphanet_1770 Gonadal dysgenesis, XY type - associated anomalies null http://www.orpha.net/ORDO/Orphanet_1770 node Orphanet_404577 Genetic syndrome with limb malformations as a major feature null http://www.orpha.net/ORDO/Orphanet_404577 node EFO_1000469 Peritoneal Well Differentiated Papillary Mesothelioma null http://www.ebi.ac.uk/efo/EFO_1000469 node EFO_0002113 BDCM null http://www.ebi.ac.uk/efo/EFO_0002113 node EFO_0010471 chenodeoxycholate measurement null http://www.ebi.ac.uk/efo/EFO_0010471 node EFO_0005691 plasma trimethylamine N-oxide measurement null http://www.ebi.ac.uk/efo/EFO_0005691 node Orphanet_98609 EEC syndrome and related syndrome Editor note: check this http://www.orpha.net/ORDO/Orphanet_98609 node UBERON_0000059 large intestine null http://purl.obolibrary.org/obo/UBERON_0000059 node EFO_1000076 Adrenal Medullary Hyperplasia null http://www.ebi.ac.uk/efo/EFO_1000076 node EFO_1000557 Synovial Chondromatosis null http://www.ebi.ac.uk/efo/EFO_1000557 node CHEBI_37848 plant growth hormone null http://purl.obolibrary.org/obo/CHEBI_37848 node Orphanet_3329 Tibial aplasia - ectrodactyly null http://www.orpha.net/ORDO/Orphanet_3329 node EFO_0000028 CS57598 null http://www.ebi.ac.uk/efo/EFO_0000028 node EFO_0010654 intellectual developmental disorder, autosomal recessive 72 null http://www.ebi.ac.uk/efo/EFO_0010654 node EFO_0010449 3-methyladipic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010449 node MONDO_0015540 hemophagocytic syndrome Editor note: NCIT treats hemophagocytic syndrome and Hemophagocytic Lymphohistiocytosis as distinct; we merge here but this should be checked. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/19 http://purl.obolibrary.org/obo/MONDO_0015540 node NCBITaxon_4641 Musa acuminata null http://purl.obolibrary.org/obo/NCBITaxon_4641 node EFO_0005139 serum ceruloplasmin measurement null http://www.ebi.ac.uk/efo/EFO_0005139 node EFO_0006726 OVMANA null http://www.ebi.ac.uk/efo/EFO_0006726 node CHEBI_32692 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone null http://purl.obolibrary.org/obo/CHEBI_32692 node EFO_0000249 Alzheimer's disease null http://www.ebi.ac.uk/efo/EFO_0000249 node EFO_0010243 inorganic ion measurement null http://www.ebi.ac.uk/efo/EFO_0010243 node CHEBI_4356 desferrioxamine B null http://purl.obolibrary.org/obo/CHEBI_4356 node HP_0010307 Stridor Stridor is different from wheezing by the following reasons. It is louder over the neck than chest wall. Secondly; stridor is mainly inspiratory. If occurs in expiration, it is usually biphasic. On the other hand; wheeze is mainly expiratory and occurs during both phases. It indicates extrathoracic upper-airway obstruction (supraglottic lesions like laryngomalacia, vocal cord lesion) when heard on inspiration. It occurs in expiration if associated with intrathoracic tracheobronchial lesions (tracheomalacia, bronchomalacia, and extrinsic compression). It occurs in both phases if lesion is fixed, for example, stenosis. Stridor is caused by the turbulent flow passing through a narrowed segment of the upper respiratory tract. http://purl.obolibrary.org/obo/HP_0010307 node EFO_0004389 UCH-1 null http://www.ebi.ac.uk/efo/EFO_0004389 node EFO_0010056 liver iron measurement null http://www.ebi.ac.uk/efo/EFO_0010056 node EFO_0004509 hemoglobin measurement null http://www.ebi.ac.uk/efo/EFO_0004509 node MONDO_0007733 holoprosencephaly 3 null http://purl.obolibrary.org/obo/MONDO_0007733 node Orphanet_3417 Van den Bosch syndrome null http://www.orpha.net/ORDO/Orphanet_3417 node EFO_0010537 taurochenodeoxycholate measurement null http://www.ebi.ac.uk/efo/EFO_0010537 node EFO_0005227 GRO-seq null http://www.ebi.ac.uk/efo/EFO_0005227 node EFO_0007741 R wave amplitude null http://www.ebi.ac.uk/efo/EFO_0007741 node EFO_0006814 caryopsis null http://www.ebi.ac.uk/efo/EFO_0006814 node Orphanet_521438 Congenital vertebral-cardiac-renal anomalies syndrome null http://www.orpha.net/ORDO/Orphanet_521438 node Orphanet_1443 Ring chromosome 19 null http://www.orpha.net/ORDO/Orphanet_1443 node Orphanet_100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D null http://www.orpha.net/ORDO/Orphanet_100046 node NCBITaxon_183674 Miscanthus x giganteus null http://purl.obolibrary.org/obo/NCBITaxon_183674 node EFO_1001018 lingual goiter null http://www.ebi.ac.uk/efo/EFO_1001018 node EFO_0000337 chronic gastritis null http://www.ebi.ac.uk/efo/EFO_0000337 node UBERON_0011085 palatoquadrate arch null http://purl.obolibrary.org/obo/UBERON_0011085 node EFO_0010758 anti-Kaposi's sarcoma-associated herpesvirus antibody measurement null http://www.ebi.ac.uk/efo/EFO_0010758 node EFO_0004171 cot filtration for single or low copy genomic DNA null http://www.ebi.ac.uk/efo/EFO_0004171 node EFO_0000818 obsolete_carotid artery null http://www.ebi.ac.uk/efo/EFO_0000818 node MONDO_0013092 glioma susceptibility 2 null http://purl.obolibrary.org/obo/MONDO_0013092 node Orphanet_263731 Partial monosomy of the short arm of chromosome X null http://www.orpha.net/ORDO/Orphanet_263731 node EFO_1000047 pleomorphic breast carcinoma _:comment___:_:@___:_:createdBy__http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern___:.__PMID:25197400 http://www.ebi.ac.uk/efo/EFO_1000047 node MONDO_0000926 eye accommodation disease null http://purl.obolibrary.org/obo/MONDO_0000926 node EFO_0005448 PEO4 null http://www.ebi.ac.uk/efo/EFO_0005448 node EFO_0010144 frontal lobe volume measurement null http://www.ebi.ac.uk/efo/EFO_0010144 node CL_0000042 neutrophilic myeloblast These cells are CD11b-negative, CD15-negative, CD16-negative, CD35-negative, CD49d-positive, CD68-positive, lactotransferrin-negative, and fMLP receptor-negative. They are found in the Band 3 fraction. http://purl.obolibrary.org/obo/CL_0000042 node Orphanet_999 Ermine phenotype null http://www.orpha.net/ORDO/Orphanet_999 node EFO_0006902 angiopoietin-2 receptor measurement null http://www.ebi.ac.uk/efo/EFO_0006902 node HP_0011338 Abnormality of mouth shape null http://purl.obolibrary.org/obo/HP_0011338 node CHEBI_43355 indoxyl sulfate null http://purl.obolibrary.org/obo/CHEBI_43355 node EFO_0010365 lysophosphatidylcholine 22:6 measurement null http://www.ebi.ac.uk/efo/EFO_0010365 node EFO_0010846 HG02678 null http://www.ebi.ac.uk/efo/EFO_0010846 node EFO_0005055 QRS duration null http://www.ebi.ac.uk/efo/EFO_0005055 node Orphanet_90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA null http://www.orpha.net/ORDO/Orphanet_90635 node Orphanet_98961 Reis-Bücklers corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98961 node GO_0061533 norepinephrine secretion, neurotransmission null http://purl.obolibrary.org/obo/GO_0061533 node MONDO_0000827 salmonellosis null http://purl.obolibrary.org/obo/MONDO_0000827 node Orphanet_98890 Early-onset X-linked optic atrophy null http://www.orpha.net/ORDO/Orphanet_98890 node Orphanet_280234 Null syndrome null http://www.orpha.net/ORDO/Orphanet_280234 node HP_0040216 Hypoinsulinemia null http://purl.obolibrary.org/obo/HP_0040216 node EFO_0009447 hypoxemia null http://www.ebi.ac.uk/efo/EFO_0009447 node EFO_0009928 Diuretic use measurement null http://www.ebi.ac.uk/efo/EFO_0009928 node CL_0000351 trophoblast cell null http://purl.obolibrary.org/obo/CL_0000351 node EFO_0007338 Lassa fever null http://www.ebi.ac.uk/efo/EFO_0007338 node EO_0007048 sodium chloride regimen null http://purl.obolibrary.org/obo/EO_0007048 node Orphanet_109007 Arthrogryposis syndrome null http://www.orpha.net/ORDO/Orphanet_109007 node EFO_0009535 binocular vision disease null http://www.ebi.ac.uk/efo/EFO_0009535 node MONDO_0003237 adenomyoma of uterine corpus null http://purl.obolibrary.org/obo/MONDO_0003237 node EFO_0007426 pericardial tuberculosis null http://www.ebi.ac.uk/efo/EFO_0007426 node MONDO_0012141 orofacial cleft 6, susceptibility to null http://purl.obolibrary.org/obo/MONDO_0012141 node CHEBI_23530 cytokinins null http://purl.obolibrary.org/obo/CHEBI_23530 node Orphanet_52056 Ulnar/fibula ray defect - brachydactyly null http://www.orpha.net/ORDO/Orphanet_52056 node Orphanet_209196 Qualitative or quantitative defects of plectin null http://www.orpha.net/ORDO/Orphanet_209196 node EFO_0009623 nose injury null http://www.ebi.ac.uk/efo/EFO_0009623 node Orphanet_99329 48,XYYY syndrome null http://www.orpha.net/ORDO/Orphanet_99329 node EFO_1001967 salivary gland squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_1001967 node Orphanet_289866 Disorder of proline metabolism null http://www.orpha.net/ORDO/Orphanet_289866 node NCBITaxon_88556 Trialeurodes vaporariorum null http://purl.obolibrary.org/obo/NCBITaxon_88556 node Orphanet_2255 Pancreatic hypoplasia - diabetes - congenital heart disease null http://www.orpha.net/ORDO/Orphanet_2255 node NCBITaxon_36329 Plasmodium falciparum 3D7 null http://purl.obolibrary.org/obo/NCBITaxon_36329 node Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy null http://www.orpha.net/ORDO/Orphanet_98784 node EFO_1001761 Angiofibroma null http://www.ebi.ac.uk/efo/EFO_1001761 node MONDO_0000211 striatal degeneration, autosomal dominant See genetic heterogeneity of OMIM 609161 smb. http://purl.obolibrary.org/obo/MONDO_0000211 node NCBITaxon_226125 Saccharomyces paradoxus NRRL Y-17217 null http://purl.obolibrary.org/obo/NCBITaxon_226125 node NCBITaxon_7226 Drosophila mauritiana null http://purl.obolibrary.org/obo/NCBITaxon_7226 node EFO_0002518 raphe magnus null http://www.ebi.ac.uk/efo/EFO_0002518 node NCBITaxon_2099 Mycoplasma hyopneumoniae null http://purl.obolibrary.org/obo/NCBITaxon_2099 node CLO_0013935 GM17140 null http://purl.obolibrary.org/obo/CLO_0013935 node Orphanet_2343 Isolated cloverleaf skull syndrome null http://www.orpha.net/ORDO/Orphanet_2343 node CLO_0031517 GM14507 null http://purl.obolibrary.org/obo/CLO_0031517 node EFO_1000821 arthus reaction Editor note: DO classifies as type III, NCIT as type I http://www.ebi.ac.uk/efo/EFO_1000821 node EFO_0003843 pain null http://www.ebi.ac.uk/efo/EFO_0003843 node EFO_1000634 hamartoma null http://www.ebi.ac.uk/efo/EFO_1000634 node EFO_0002180 G402 null http://www.ebi.ac.uk/efo/EFO_0002180 node EFO_0001231 RAW264.7 null http://www.ebi.ac.uk/efo/EFO_0001231 node CHEBI_3237 butein null http://purl.obolibrary.org/obo/CHEBI_3237 node EFO_0000409 disease free survival null http://www.ebi.ac.uk/efo/EFO_0000409 node CHEBI_64208 (2Z,3Z)-bis\{amino[(2-aminophenyl)sulfanyl]methylidene\}butanedinitrile null http://purl.obolibrary.org/obo/CHEBI_64208 node Orphanet_2431 Central bilateral macrogyria null http://www.orpha.net/ORDO/Orphanet_2431 node EFO_0002299 NCI-H661 null http://www.ebi.ac.uk/efo/EFO_0002299 node EFO_0000788 fungal component null http://www.ebi.ac.uk/efo/EFO_0000788 node EFO_0003931 bone fracture null http://www.ebi.ac.uk/efo/EFO_0003931 node HANCESTRO_0487 Indian null http://purl.obolibrary.org/obo/HANCESTRO_0487 node Orphanet_182079 ARX-related epileptic encephalopathy null http://www.orpha.net/ORDO/Orphanet_182079 node CHEBI_30660 thyroxine null http://purl.obolibrary.org/obo/CHEBI_30660 node EFO_1000722 Kimura disease null http://www.ebi.ac.uk/efo/EFO_1000722 node Orphanet_1046 Lethal hemolytic anemia - genital anomalies null http://www.orpha.net/ORDO/Orphanet_1046 node NCBITaxon_106787 Pachycladon null http://purl.obolibrary.org/obo/NCBITaxon_106787 node HP_0001611 Nasal speech May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy. http://purl.obolibrary.org/obo/HP_0001611 node Orphanet_314709 Primary localized amyloidosis null http://www.orpha.net/ORDO/Orphanet_314709 node Orphanet_182050 MYH9-related disease null http://www.orpha.net/ORDO/Orphanet_182050 node EFO_0002081 SN56.B5.G4 null http://www.ebi.ac.uk/efo/EFO_0002081 node EFO_0005304 atrial conduction disease null http://www.ebi.ac.uk/efo/EFO_0005304 node NCBITaxon_4555 Setaria italica null http://purl.obolibrary.org/obo/NCBITaxon_4555 node CHEBI_124991 cefalotin null http://purl.obolibrary.org/obo/CHEBI_124991 node MONDO_0004222 ovarian clear cell cystadenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0004222 node CHEBI_17750 glycine betaine null http://purl.obolibrary.org/obo/CHEBI_17750 node Orphanet_261304 Paternal 20q13.2q13.3 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261304 node EFO_0003814 array scanning and feature extraction protocol null http://www.ebi.ac.uk/efo/EFO_0003814 node Orphanet_631 Non-acquired isolated growth hormone deficiency null http://www.orpha.net/ORDO/Orphanet_631 node Orphanet_1297 Branchio-oculo-facial syndrome null http://www.orpha.net/ORDO/Orphanet_1297 node NCBITaxon_12230 Turnip mosaic virus null http://purl.obolibrary.org/obo/NCBITaxon_12230 node CL_0000763 myeloid cell null http://purl.obolibrary.org/obo/CL_0000763 node Orphanet_2274 Ichthyosis - hepatosplenomegaly - cerebellar degeneration null http://www.orpha.net/ORDO/Orphanet_2274 node MONDO_0008593 trichomegaly null http://purl.obolibrary.org/obo/MONDO_0008593 node Orphanet_96188 Maternal uniparental disomy of chromosome 22 null http://www.orpha.net/ORDO/Orphanet_96188 node HP_0011013 Abnormal circulating carbohydrate concentration An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them. http://purl.obolibrary.org/obo/HP_0011013 node Orphanet_93324 Autosomal recessive Kenny-Caffey syndrome null http://www.orpha.net/ORDO/Orphanet_93324 node MONDO_0017814 primary bone lymphoma null http://purl.obolibrary.org/obo/MONDO_0017814 node Orphanet_168629 Autosomal thrombocytopenia with normal platelets null http://www.orpha.net/ORDO/Orphanet_168629 node EFO_0005800 substance withdrawal syndrome null http://www.ebi.ac.uk/efo/EFO_0005800 node EFO_0010420 triacylglycerol 54:2 measurement null http://www.ebi.ac.uk/efo/EFO_0010420 node CL_0000821 B-1b B cell null http://purl.obolibrary.org/obo/CL_0000821 node Orphanet_30925 Hereditary central diabetes insipidus null http://www.orpha.net/ORDO/Orphanet_30925 node MONDO_0021072 sympathetic paraganglioma null http://purl.obolibrary.org/obo/MONDO_0021072 node Orphanet_314404 Autosomal dominant cerebellar ataxia, deafness and narcolepsy null http://www.orpha.net/ORDO/Orphanet_314404 node EFO_0007357 mansonelliasis null http://www.ebi.ac.uk/efo/EFO_0007357 node Orphanet_228426 Syndromic multisystem autoimmune disease due to Itch deficiency null http://www.orpha.net/ORDO/Orphanet_228426 node MONDO_0001059 gastric lymphoma null http://purl.obolibrary.org/obo/MONDO_0001059 node EFO_0005195 response to cholinesterase inhibitor null http://www.ebi.ac.uk/efo/EFO_0005195 node MONDO_0022113 central centrifugal cicatricial alopecia null http://purl.obolibrary.org/obo/MONDO_0022113 node EFO_0008986 X-ChIP-seq null http://www.ebi.ac.uk/efo/EFO_0008986 node EFO_0005701 malignant rhabdoid tumour null http://www.ebi.ac.uk/efo/EFO_0005701 node EFO_0002998 ILSXISS92/TejJ null http://www.ebi.ac.uk/efo/EFO_0002998 node EFO_0007445 Plasmodium vivax malaria null http://www.ebi.ac.uk/efo/EFO_0007445 node HP_0012086 Abnormal urinary color null http://purl.obolibrary.org/obo/HP_0012086 node HP_0005487 Prominent metopic ridge The ridge may extend from the hairline to the glabella or may be partial. The frontal suture of the skull is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children and usually undergoes closure by the age of six years. A persistent frontal suture is known as a metopic suture or sutura frontalis persistens. This can lead to a ridged appearance of the forehead. http://purl.obolibrary.org/obo/HP_0005487 node MONDO_0001147 meningocele (disease) null http://purl.obolibrary.org/obo/MONDO_0001147 node HP_0000678 Dental crowding null http://purl.obolibrary.org/obo/HP_0000678 node EFO_0005283 HS-27A null http://www.ebi.ac.uk/efo/EFO_0005283 node Orphanet_202940 Anomaly of puberty or/and menstrual cycle of genetic origin null http://www.orpha.net/ORDO/Orphanet_202940 node MONDO_0002472 carcinoma ex pleomorphic adenoma null http://purl.obolibrary.org/obo/MONDO_0002472 node EFO_0006661 NCI-H1693 null http://www.ebi.ac.uk/efo/EFO_0006661 node Orphanet_268369 Spina bifida aperta null http://www.orpha.net/ORDO/Orphanet_268369 node EFO_0009226 Methemoglobin to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009226 node EFO_0000889 smooth muscle null http://www.ebi.ac.uk/efo/EFO_0000889 node EFO_0006505 chronic bronchitis null http://www.ebi.ac.uk/efo/EFO_0006505 node Orphanet_2836 PEHO syndrome null http://www.orpha.net/ORDO/Orphanet_2836 node EFO_0006328 response to venlafaxine null http://www.ebi.ac.uk/efo/EFO_0006328 node HP_0001693 Cardiac shunt null http://purl.obolibrary.org/obo/HP_0001693 node Orphanet_98574 Syndromic epicanthus null http://www.orpha.net/ORDO/Orphanet_98574 node Orphanet_2649 Short stature - intellectual disability - eye anomalies - cleft lip/palate null http://www.orpha.net/ORDO/Orphanet_2649 node CHEBI_33286 agrochemical role null http://purl.obolibrary.org/obo/CHEBI_33286 node Orphanet_79346 Chondrodysplasia punctata, tibial-metacarpal type null http://www.orpha.net/ORDO/Orphanet_79346 node EFO_0000860 obsolete_thymus null http://www.ebi.ac.uk/efo/EFO_0000860 node Orphanet_169100 Immunodeficiency due to CD25 deficiency null http://www.orpha.net/ORDO/Orphanet_169100 node CL_0002217 intermediate trophoblast cell null http://purl.obolibrary.org/obo/CL_0002217 node NCBITaxon_186497 Pyrococcus furiosus DSM 3638 null http://purl.obolibrary.org/obo/NCBITaxon_186497 node EFO_0000673 prostate adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0000673 node EFO_1001364 Lymphatic Metastasis null http://www.ebi.ac.uk/efo/EFO_1001364 node MONDO_0033352 neuropathy, congenital hypomelinating null http://purl.obolibrary.org/obo/MONDO_0033352 node EFO_0004867 vitamin E measurement null http://www.ebi.ac.uk/efo/EFO_0004867 node CHEBI_62533 oligogalacturonide null http://purl.obolibrary.org/obo/CHEBI_62533 node EFO_0000977 obsolete_spermathecum null http://www.ebi.ac.uk/efo/EFO_0000977 node EFO_1001177 septic abortion null http://www.ebi.ac.uk/efo/EFO_1001177 node CL_0002438 NK1.1-positive natural killer cell, mouse Note: Nk1.1 expression is restricted to C57BL strains of laboratory mice. http://purl.obolibrary.org/obo/CL_0002438 node EFO_0001969 obsolete_medulla of thymus null http://www.ebi.ac.uk/efo/EFO_0001969 node EFO_0008282 serum amyloid A-1 protein measurement null http://www.ebi.ac.uk/efo/EFO_0008282 node EFO_0009071 malignant hyperthermia, susceptibility to, 1 null http://www.ebi.ac.uk/efo/EFO_0009071 node CL_0001001 immature CD8_alpha-negative CD11b-negative dendritic cell These markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000014)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001001 node HP_0004448 Fulminant hepatic failure null http://purl.obolibrary.org/obo/HP_0004448 node Orphanet_79434 Oculocutaneous albinism type 1B null http://www.orpha.net/ORDO/Orphanet_79434 node Orphanet_849 Glanzmann thrombasthenia null http://www.orpha.net/ORDO/Orphanet_849 node EFO_0002270 NCI-H1930 null http://www.ebi.ac.uk/efo/EFO_0002270 node Orphanet_778 Rett syndrome null http://www.orpha.net/ORDO/Orphanet_778 node HP_0001974 Leukocytosis null http://purl.obolibrary.org/obo/HP_0001974 node MONDO_0024495 tumor grade 1 or 2, general grading system null http://purl.obolibrary.org/obo/MONDO_0024495 node EFO_0000761 obsolete_normal Up until version 2.56, EFO_0000761 had defined 'normal' as a disposition. Describing HPO phenotype utilizes 'normal' as a quality with PATO_0000461, thus the refactoring. http://www.ebi.ac.uk/efo/EFO_0000761 node EFO_0005882 iron ion homeostasis null http://www.ebi.ac.uk/efo/EFO_0005882 node FBbt_00017020 oenocyte primordium null http://purl.obolibrary.org/obo/FBbt_00017020 node EFO_0001168 HCC1007 null http://www.ebi.ac.uk/efo/EFO_0001168 node EFO_0001753 species design null http://www.ebi.ac.uk/efo/EFO_0001753 node EFO_0000584 infectious meningitis null http://www.ebi.ac.uk/efo/EFO_0000584 node EFO_0004955 Breslow thickness null http://www.ebi.ac.uk/efo/EFO_0004955 node EFO_1001265 Aneurysm, False null http://www.ebi.ac.uk/efo/EFO_1001265 node NCBITaxon_39984 Bruguiera gymnorhiza null http://purl.obolibrary.org/obo/NCBITaxon_39984 node EFO_0004768 follicle stimulating hormone measurement null http://www.ebi.ac.uk/efo/EFO_0004768 node Orphanet_91412 Marcus-Gunn syndrome null http://www.orpha.net/ORDO/Orphanet_91412 node EFO_0008370 infant white matter volume measurement null http://www.ebi.ac.uk/efo/EFO_0008370 node HP_0002448 Progressive encephalopathy null http://purl.obolibrary.org/obo/HP_0002448 node HP_0010845 EEG with generalized slow activity Generalized slow activity in the EEG typically signifies serious dysfunction of the entire brain. http://purl.obolibrary.org/obo/HP_0010845 node EFO_0003126 HCC1171 null http://www.ebi.ac.uk/efo/EFO_0003126 node CHEBI_35553 perhexiline null http://purl.obolibrary.org/obo/CHEBI_35553 node Orphanet_139557 X-linked distal spinal muscular atrophy null http://www.orpha.net/ORDO/Orphanet_139557 node CLO_0014366 GM17222 null http://purl.obolibrary.org/obo/CLO_0014366 node Orphanet_83628 PELVIS syndrome null http://www.orpha.net/ORDO/Orphanet_83628 node HP_0000958 Dry skin null http://purl.obolibrary.org/obo/HP_0000958 node EFO_1001828 post-exercise hypotension null http://www.ebi.ac.uk/efo/EFO_1001828 node MONDO_0020288 atrioventricular valve anomaly null http://purl.obolibrary.org/obo/MONDO_0020288 node CHEBI_63924 riddelliine null http://purl.obolibrary.org/obo/CHEBI_63924 node EFO_0002581 pancreatectomy null http://www.ebi.ac.uk/efo/EFO_0002581 node GO_0009611 response to wounding Replaced previous EFO class "damage response" (child of "measurement") http://purl.obolibrary.org/obo/GO_0009611 node GO_0036276 response to antidepressant null http://purl.obolibrary.org/obo/GO_0036276 node HP_0001195 Single umbilical artery The umbilical cord normally has two arteries and one vein. http://purl.obolibrary.org/obo/HP_0001195 node HP_0002242 Abnormal intestine morphology null http://purl.obolibrary.org/obo/HP_0002242 node CHEBI_53439 calcineurin null http://purl.obolibrary.org/obo/CHEBI_53439 node HP_0002037 Inflammation of the large intestine null http://purl.obolibrary.org/obo/HP_0002037 node EFO_0010422 triacylglycerol 54:4 measurement null http://www.ebi.ac.uk/efo/EFO_0010422 node Orphanet_400022 Rare female infertility due to an anomaly of ovarian function of genetic origin null http://www.orpha.net/ORDO/Orphanet_400022 node MONDO_0033544 Tolchin-Le Caignec syndrome null http://purl.obolibrary.org/obo/MONDO_0033544 node UBERON_0002184 segmental bronchus null http://purl.obolibrary.org/obo/UBERON_0002184 node EFO_0010269 amenorrhea null http://www.ebi.ac.uk/efo/EFO_0010269 node MONDO_0003409 colonic disease null http://purl.obolibrary.org/obo/MONDO_0003409 node EFO_0004163 SOLiD native qual format null http://www.ebi.ac.uk/efo/EFO_0004163 node CHEBI_64104 sodium 8-bromo-3',5'-cyclic GMP null http://purl.obolibrary.org/obo/CHEBI_64104 node Orphanet_363189 congenital anomaly of the great veins null http://www.orpha.net/ORDO/Orphanet_363189 node Orphanet_306474 Congenital sucrase-isomaltase deficiency with starch and lactose intolerance null http://www.orpha.net/ORDO/Orphanet_306474 node MONDO_0044322 intellectual developmental disorder with neuropsychiatric features null http://purl.obolibrary.org/obo/MONDO_0044322 node Orphanet_217572 Glycogen storage disease with hypertrophic cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_217572 node EFO_0003037 CMK null http://www.ebi.ac.uk/efo/EFO_0003037 node Orphanet_101009 Autosomal dominant spastic paraplegia type 29 null http://www.orpha.net/ORDO/Orphanet_101009 node EFO_0003622 obsolete_thymus primordium null http://www.ebi.ac.uk/efo/EFO_0003622 node Orphanet_234 Dubin-Johnson syndrome null http://www.orpha.net/ORDO/Orphanet_234 node CHEBI_89118 5-hydroxymethyl-2-furoic acid null http://purl.obolibrary.org/obo/CHEBI_89118 node EFO_1001916 separation anxiety disorder null http://www.ebi.ac.uk/efo/EFO_1001916 node NCBITaxon_226127 Saccharomyces bayanus MCYC 623 null http://purl.obolibrary.org/obo/NCBITaxon_226127 node EFO_1000413 Ovarian Choriocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000413 node EFO_0004362 psychomotor performance null http://www.ebi.ac.uk/efo/EFO_0004362 node EFO_0003435 obsolete_presumptive dorsal mesoderm null http://www.ebi.ac.uk/efo/EFO_0003435 node HP_0001302 Pachygyria null http://purl.obolibrary.org/obo/HP_0001302 node Orphanet_398069 Prader-Willi syndrome due to point mutation null http://www.orpha.net/ORDO/Orphanet_398069 node EFO_0010510 NG-monomethyl-arginine measurement null http://www.ebi.ac.uk/efo/EFO_0010510 node NCBITaxon_120794 Falco rusticolus null http://purl.obolibrary.org/obo/NCBITaxon_120794 node EFO_0010357 lysophosphatidylcholine 16:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010357 node UBERON_2000645 descending octaval nucleus null http://purl.obolibrary.org/obo/UBERON_2000645 node EFO_0004251 myeloproliferative disorder null http://www.ebi.ac.uk/efo/EFO_0004251 node Orphanet_247806 APC-related attenuated familial adenomatous polyposis Editor note: TODO add gene http://www.orpha.net/ORDO/Orphanet_247806 node EFO_0006995 response to diisocyanate null http://www.ebi.ac.uk/efo/EFO_0006995 node EFO_0004064 VT847 null http://www.ebi.ac.uk/efo/EFO_0004064 node Orphanet_313855 FGFR2-related bent bone dysplasia null http://www.orpha.net/ORDO/Orphanet_313855 node Orphanet_322 Exstrophy-epispadias complex null http://www.orpha.net/ORDO/Orphanet_322 node EFO_1000020 cecum adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000020 node Orphanet_99 Autosomal dominant cerebellar ataxia null http://www.orpha.net/ORDO/Orphanet_99 node EFO_0003523 obsolete_E-YSL null http://www.ebi.ac.uk/efo/EFO_0003523 node NCBITaxon_2208 Methanosarcina barkeri null http://purl.obolibrary.org/obo/NCBITaxon_2208 node CLO_0016500 GM17812 null http://purl.obolibrary.org/obo/CLO_0016500 node MONDO_0044937 rectal carcinoma null http://purl.obolibrary.org/obo/MONDO_0044937 node HP_0040082 Happy demeanor null http://purl.obolibrary.org/obo/HP_0040082 node Orphanet_71275 Rh deficiency syndrome null http://www.orpha.net/ORDO/Orphanet_71275 node GO_0033273 response to vitamin null http://purl.obolibrary.org/obo/GO_0033273 node NCBITaxon_426 Methylosinus trichosporium null http://purl.obolibrary.org/obo/NCBITaxon_426 node NCBITaxon_189291 Meloidogyne graminicola null http://purl.obolibrary.org/obo/NCBITaxon_189291 node EFO_0006896 glucose homeostasis measurement null http://www.ebi.ac.uk/efo/EFO_0006896 node EFO_0003909 obsolete_heart conduction system null http://www.ebi.ac.uk/efo/EFO_0003909 node CL_0005011 renal alpha-intercalated cell null http://purl.obolibrary.org/obo/CL_0005011 node MONDO_0013276 Reynolds syndrome null http://purl.obolibrary.org/obo/MONDO_0013276 node MONDO_0010555 X-linked chondrodysplasia punctata 1 null http://purl.obolibrary.org/obo/MONDO_0010555 node EFO_0007048 human herpesvirus 6 seropositivity null http://www.ebi.ac.uk/efo/EFO_0007048 node UBERON_0003663 hindlimb muscle null http://purl.obolibrary.org/obo/UBERON_0003663 node Orphanet_2085 Glaucoma - sleep apnea null http://www.orpha.net/ORDO/Orphanet_2085 node MONDO_0021489 benign neoplasm of sweat gland null http://purl.obolibrary.org/obo/MONDO_0021489 node MONDO_0019061 rare parathyroid disease and phosphocalcic metabolism anomaly null http://purl.obolibrary.org/obo/MONDO_0019061 node MONDO_0018562 genetic otorhinolaryngological malformation null http://purl.obolibrary.org/obo/MONDO_0018562 node MONDO_0000382 respiratory system benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0000382 node CHEBI_22978 cadmium compounds null http://purl.obolibrary.org/obo/CHEBI_22978 node EFO_1000307 Invasive Breast Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000307 node EFO_0006362 A2780 null http://www.ebi.ac.uk/efo/EFO_0006362 node NCBITaxon_34620 Dermacentor andersoni null http://purl.obolibrary.org/obo/NCBITaxon_34620 node EFO_0000040 CS57624 null http://www.ebi.ac.uk/efo/EFO_0000040 node CHEBI_32145 sodium hydroxide null http://purl.obolibrary.org/obo/CHEBI_32145 node EFO_0002689 antiphospholipid syndrome null http://www.ebi.ac.uk/efo/EFO_0002689 node UBERON_2000422 retroarticular null http://purl.obolibrary.org/obo/UBERON_2000422 node CHEBI_30351 2,2'-bipyridine null http://purl.obolibrary.org/obo/CHEBI_30351 node MONDO_0000066 mitochondrial complex deficiency null http://purl.obolibrary.org/obo/MONDO_0000066 node CHEBI_133727 1,7-dimethylurate anion null http://purl.obolibrary.org/obo/CHEBI_133727 node CHEBI_75928 (S)-2-hydroxypalmitate null http://purl.obolibrary.org/obo/CHEBI_75928 node Orphanet_309469 Disorder of O-mannosylglycan synthesis null http://www.orpha.net/ORDO/Orphanet_309469 node HP_0000369 Low-set ears null http://purl.obolibrary.org/obo/HP_0000369 node EFO_0004047 CB184 null http://www.ebi.ac.uk/efo/EFO_0004047 node EFO_0009787 encounter with health service related to reproduction null http://www.ebi.ac.uk/efo/EFO_0009787 node MONDO_0024317 chronic pain syndrome null http://purl.obolibrary.org/obo/MONDO_0024317 node CL_0002025 CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell Markers are commonly associated with human cells. http://purl.obolibrary.org/obo/CL_0002025 node Orphanet_2913 Polydactyly Editor note: Orphanet calls this Polydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy http://www.orpha.net/ORDO/Orphanet_2913 node MONDO_0000470 endocardium disease null http://purl.obolibrary.org/obo/MONDO_0000470 node EFO_0008789 M6A-RIP null http://www.ebi.ac.uk/efo/EFO_0008789 node HP_0003720 Generalized muscle hypertrophy null http://purl.obolibrary.org/obo/HP_0003720 node EFO_0006450 L-363 null http://www.ebi.ac.uk/efo/EFO_0006450 node EFO_0002777 Normal Human Astrocytes null http://www.ebi.ac.uk/efo/EFO_0002777 node Orphanet_63446 Acrocapitofemoral dysplasia null http://www.orpha.net/ORDO/Orphanet_63446 node Orphanet_293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome null http://www.orpha.net/ORDO/Orphanet_293978 node EFO_0009090 enrichment process null http://www.ebi.ac.uk/efo/EFO_0009090 node EFO_0009875 thymus atrophy null http://www.ebi.ac.uk/efo/EFO_0009875 node Orphanet_790 Retinoblastoma null http://www.orpha.net/ORDO/Orphanet_790 node MONDO_0013500 immunodeficiency 51 null http://purl.obolibrary.org/obo/MONDO_0013500 node NCBITaxon_40993 Aspergillus carbonarius null http://purl.obolibrary.org/obo/NCBITaxon_40993 node Orphanet_3051 intellectual disability - sparse hair - brachydactyly null http://www.orpha.net/ORDO/Orphanet_3051 node EFO_0009476 neck injury null http://www.ebi.ac.uk/efo/EFO_0009476 node EFO_0008527 steatosis Steatosis, also called fatty change, is the process describing the abnormal retention of lipids within a cell. It reflects an impairment of the normal processes of synthesis and elimination of triglyceride fat. Excess lipid accumulates in vesicles that displace the cytoplasm. http://www.ebi.ac.uk/efo/EFO_0008527 node PATO_0000033 concentration of null http://purl.obolibrary.org/obo/PATO_0000033 node Orphanet_3379 Distal trisomy 17q null http://www.orpha.net/ORDO/Orphanet_3379 node MONDO_0000640 central nervous system primitive neuroectodermal neoplasm NCIT calls this CNS embryonal tumor, NOS http://purl.obolibrary.org/obo/MONDO_0000640 node EFO_0008935 smMIP null http://www.ebi.ac.uk/efo/EFO_0008935 node Orphanet_79149 Dermochondrocorneal dystrophy null http://www.orpha.net/ORDO/Orphanet_79149 node Orphanet_93972 Juberg-Marsidi syndrome null http://www.orpha.net/ORDO/Orphanet_93972 node CHEBI_28315 alloxanthine null http://purl.obolibrary.org/obo/CHEBI_28315 node EFO_0001444 measurement null http://www.ebi.ac.uk/efo/EFO_0001444 node Orphanet_264450 Trisomy 8p null http://www.orpha.net/ORDO/Orphanet_264450 node EFO_1000665 acrodermatitis chronica atrophicans null http://www.ebi.ac.uk/efo/EFO_1000665 node Orphanet_96126 Distal monosomy 7p null http://www.orpha.net/ORDO/Orphanet_96126 node EFO_0009564 pulmonary valve disease null http://www.ebi.ac.uk/efo/EFO_0009564 node EFO_0002184 H4 null http://www.ebi.ac.uk/efo/EFO_0002184 node EFO_0001257 U937 null http://www.ebi.ac.uk/efo/EFO_0001257 node EFO_0008615 Cystic Kidney Disease null http://www.ebi.ac.uk/efo/EFO_0008615 node EFO_0008061 calcineurin measurement null http://www.ebi.ac.uk/efo/EFO_0008061 node NCIT_C95746 sleepiness null http://purl.obolibrary.org/obo/NCIT_C95746 node EFO_0009940 Antidepressant use measurement null http://www.ebi.ac.uk/efo/EFO_0009940 node Orphanet_253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_253 node EFO_0002073 mIMCD-3 null http://www.ebi.ac.uk/efo/EFO_0002073 node Orphanet_2457 Mandibuloacral dysplasia null http://www.orpha.net/ORDO/Orphanet_2457 node EFO_0008836 Nucleo-Seq null http://www.ebi.ac.uk/efo/EFO_0008836 node EFO_0000838 obsolete_larynx null http://www.ebi.ac.uk/efo/EFO_0000838 node EFO_1000272 Gastric Mantle Cell Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000272 node EFO_1000753 phototoxic dermatitis null http://www.ebi.ac.uk/efo/EFO_1000753 node EFO_0003775 obsolete_Job's syndrome null http://www.ebi.ac.uk/efo/EFO_0003775 node EFO_0002272 NCI-H1993 null http://www.ebi.ac.uk/efo/EFO_0002272 node EFO_0001345 Wistar-Kyoto null http://www.ebi.ac.uk/efo/EFO_0001345 node EFO_0005498 newly molted young adult hermaphrodite null http://www.ebi.ac.uk/efo/EFO_0005498 node EFO_1000566 Testicular Germ Cell Tumor null http://www.ebi.ac.uk/efo/EFO_1000566 node Orphanet_93591 Infantile nephronophthisis null http://www.orpha.net/ORDO/Orphanet_93591 node Orphanet_369852 Recurrent infections-myelofibrosis-nephromegaly syndrome null http://www.orpha.net/ORDO/Orphanet_369852 node MONDO_0043885 eye infectious disease null http://purl.obolibrary.org/obo/MONDO_0043885 node MONDO_0004943 orbit sarcoma null http://purl.obolibrary.org/obo/MONDO_0004943 node EFO_1000974 hypersensitivity vasculitis null http://www.ebi.ac.uk/efo/EFO_1000974 node NCBITaxon_9234 Aptenodytes patagonicus null http://purl.obolibrary.org/obo/NCBITaxon_9234 node MONDO_0001407 tracheal cancer null http://purl.obolibrary.org/obo/MONDO_0001407 node CHEBI_38870 inhalation anaesthetic null http://purl.obolibrary.org/obo/CHEBI_38870 node EFO_0001029 obsolete_inflorescence null http://www.ebi.ac.uk/efo/EFO_0001029 node EFO_0008443 10x sequencing protocol null http://www.ebi.ac.uk/efo/EFO_0008443 node CHEBI_3892 adrenocorticotropic hormone null http://purl.obolibrary.org/obo/CHEBI_3892 node EFO_0000445 obsolete_embryonic central brain pars intercerebralis null http://www.ebi.ac.uk/efo/EFO_0000445 node FBbt_10005249 embryonic primordium of adult eye null http://purl.obolibrary.org/obo/FBbt_10005249 node EFO_0000926 obsolete_pars intercerebralis null http://www.ebi.ac.uk/efo/EFO_0000926 node EFO_1001126 primary Fusobacteriaceae infectious disease null http://www.ebi.ac.uk/efo/EFO_1001126 node EFO_1000818 arcus senilis null http://www.ebi.ac.uk/efo/EFO_1000818 node EFO_1000360 Malignant Paraganglioma null http://www.ebi.ac.uk/efo/EFO_1000360 node MONDO_0020067 infectious encephalitis null http://purl.obolibrary.org/obo/MONDO_0020067 node EFO_0005556 Gilbert syndrome null http://www.ebi.ac.uk/efo/EFO_0005556 node EFO_0004629 von Willebrand factor measurement null http://www.ebi.ac.uk/efo/EFO_0004629 node EFO_0002835 MRC5 null http://www.ebi.ac.uk/efo/EFO_0002835 node EFO_0010915 heat shock 27 kDa protein measurement null http://www.ebi.ac.uk/efo/EFO_0010915 node EFO_0008231 metalloproteinase inhibitor 3 measurement null http://www.ebi.ac.uk/efo/EFO_0008231 node EFO_0002360 SW1353 null http://www.ebi.ac.uk/efo/EFO_0002360 node CL_0000813 memory T cell null http://purl.obolibrary.org/obo/CL_0000813 node EFO_0010048 Fluidigm C1-based dissociation null http://www.ebi.ac.uk/efo/EFO_0010048 node HP_0006165 Proportionate shortening of all digits null http://purl.obolibrary.org/obo/HP_0006165 node EFO_0001117 GM11829 null http://www.ebi.ac.uk/efo/EFO_0001117 node UBERON_0001485 knee joint null http://purl.obolibrary.org/obo/UBERON_0001485 node EFO_0000533 obsolete_Huntington's disease null http://www.ebi.ac.uk/efo/EFO_0000533 node Orphanet_1435 Choroideremia - deafness - obesity null http://www.orpha.net/ORDO/Orphanet_1435 node EFO_1001214 tonsil cancer null http://www.ebi.ac.uk/efo/EFO_1001214 node EFO_0000346 obsolete_classical Hodgkin's lymphoma null http://www.ebi.ac.uk/efo/EFO_0000346 node CHEBI_7959 D-penicillamine null http://purl.obolibrary.org/obo/CHEBI_7959 node CHEBI_73048 O-[(4Z)-decenoyl]carnitine null http://purl.obolibrary.org/obo/CHEBI_73048 node EFO_0005644 ATC Code P Antiparasitic products, insecticides and repellents P ANTIPARASITIC PRODUCTS, INSECTICIDES AND REPELLENTS The group is subdivided according to types of parasites. P01 ANTIPROTOZOALS P02 ANTHELMINTICS The anthelmintics are subdivided according to the main type of worms (i.e. trematodes, nematodes and cestodes) causing the infections. P03 ECTOPARASITICIDES, INCL. SCABICIDES, INSECTICIDES AND REPELLENTS No DDDs are assigned in this group. Substances classified in this group are for topical use and the consumption figures for these preparations could be expressed in e.g. grams of preparations regardless of strength. http://www.ebi.ac.uk/efo/EFO_0005644 node CHEBI_36711 phosphoethanolamine null http://purl.obolibrary.org/obo/CHEBI_36711 node Orphanet_238523 Atypical hypotonia - cystinuria syndrome null http://www.orpha.net/ORDO/Orphanet_238523 node EFO_0002923 obsolete_retinoblastoma null http://www.ebi.ac.uk/efo/EFO_0002923 node EFO_0004165 Illumina native scarf format null http://www.ebi.ac.uk/efo/EFO_0004165 node Orphanet_1248 Maxillonasal dysplasia null http://www.orpha.net/ORDO/Orphanet_1248 node CL_0000901 Tr1 cell These cells are reportedly induced by IL-10 and are capable of producing IFN-gamma, IL-5, IL-10, and TGF-beta.) http://purl.obolibrary.org/obo/CL_0000901 node EFO_0000275 atrial fibrillation null http://www.ebi.ac.uk/efo/EFO_0000275 node MONDO_0013411 cataract 16 multiple types null http://purl.obolibrary.org/obo/MONDO_0013411 node EFO_0008132 fibronectin fragment 4 measurement null http://www.ebi.ac.uk/efo/EFO_0008132 node NCBITaxon_373101 Picea engelmannii x Picea glauca null http://purl.obolibrary.org/obo/NCBITaxon_373101 node EFO_0009409 abnormal vaginal discharge itching null http://www.ebi.ac.uk/efo/EFO_0009409 node CHEBI_17747 diethylhexyl phthalate null http://purl.obolibrary.org/obo/CHEBI_17747 node EFO_1001302 Cytomegalovirus Retinitis null http://www.ebi.ac.uk/efo/EFO_1001302 node Orphanet_628 Diastrophic dwarfism null http://www.orpha.net/ORDO/Orphanet_628 node HP_0010554 Cutaneous finger syndactyly We have set an arguably arbitrary threshold to distinguish the object form the subjective finding. While severe degrees of cutaneous syndactyly are clearly objective, more subtle degrees are subjective. We set this threshold to distinguish these two situations. The digits (or parts of) are joined together by tissue that is not normally present between the digits at that point in the P/D axis. A modifier of "complete" may be used if the cutaneous syndactyly extends to the distal end of the nail bed of the digits. The affected digits should be specified. Note that the unqualified term "syndactyly" is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly. http://purl.obolibrary.org/obo/HP_0010554 node MONDO_0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures null http://purl.obolibrary.org/obo/MONDO_0032893 node Orphanet_1716 Distal trisomy 18q null http://www.orpha.net/ORDO/Orphanet_1716 node MONDO_0030922 intellectual disability, autosomal dominant 56 null http://purl.obolibrary.org/obo/MONDO_0030922 node EFO_0004066 EM464 null http://www.ebi.ac.uk/efo/EFO_0004066 node EFO_0007697 left superior temporal gyrus grey matter volume measurement null http://www.ebi.ac.uk/efo/EFO_0007697 node EFO_0004311 heart function measurement null http://www.ebi.ac.uk/efo/EFO_0004311 node Orphanet_90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency null http://www.orpha.net/ORDO/Orphanet_90794 node CL_0002102 CD38-negative naive B cell null http://purl.obolibrary.org/obo/CL_0002102 node Orphanet_1804 Dyssegmental dysplasia - glaucoma null http://www.orpha.net/ORDO/Orphanet_1804 node GO_0044765 single-organism transport null http://purl.obolibrary.org/obo/GO_0044765 node UBERON_0001897 dorsal plus ventral thalamus null http://purl.obolibrary.org/obo/UBERON_0001897 node EFO_0007298 hemopericardium null http://www.ebi.ac.uk/efo/EFO_0007298 node Orphanet_306511 Autosomal recessive spastic paraplegia type 48 null http://www.orpha.net/ORDO/Orphanet_306511 node EFO_0002854 SBC-3 null http://www.ebi.ac.uk/efo/EFO_0002854 node EFO_0006757 SNU-620 null http://www.ebi.ac.uk/efo/EFO_0006757 node EFO_0007804 LDL cholesterol change measurement null http://www.ebi.ac.uk/efo/EFO_0007804 node HP_0007366 Atrophy/Degeneration affecting the brainstem null http://purl.obolibrary.org/obo/HP_0007366 node EFO_0007386 Mycobacterium avium complex disease null http://www.ebi.ac.uk/efo/EFO_0007386 node MONDO_0015939 systemic autoimmune disease null http://purl.obolibrary.org/obo/MONDO_0015939 node Orphanet_99792 Dentin dysplasia - sclerotic bones null http://www.orpha.net/ORDO/Orphanet_99792 node CHEBI_5832 hypaphorine null http://purl.obolibrary.org/obo/CHEBI_5832 node Orphanet_98688 Oculomotor apraxia or related oculomotor disease null http://www.orpha.net/ORDO/Orphanet_98688 node EFO_0006364 C32 null http://www.ebi.ac.uk/efo/EFO_0006364 node EFO_0002942 transcription profiling by MPSS null http://www.ebi.ac.uk/efo/EFO_0002942 node MONDO_0060631 Alkuraya-Kucinskas syndrome null http://purl.obolibrary.org/obo/MONDO_0060631 node EFO_0007199 central nervous system tuberculosis Tuberculosis of the brain, spinal cord, or meninges (TUBERCULOSIS, MENINGEAL), most often caused by MYCOBACTERIUM TUBERCULOSIS and rarely by MYCOBACTERIUM BOVIS. The infection may be limited to the nervous system or coexist in other organs (e.g., TUBERCULOSIS, PULMONARY). The organism tends to seed the meninges causing a diffuse meningitis and leads to the formation of TUBERCULOMA, which may occur within the brain, spinal cord, or perimeningeal spaces. Tuberculous involvement of the vertebral column (TUBERCULOSIS, SPINAL) may result in nerve root or spinal cord compression. (From Adams et al., Principles of Neurology, 6th ed, pp717-20) http://www.ebi.ac.uk/efo/EFO_0007199 node EFO_0006845 liver disease biomarker null http://www.ebi.ac.uk/efo/EFO_0006845 node CHEBI_15361 pyruvate null http://purl.obolibrary.org/obo/CHEBI_15361 node EFO_0006658 NCI-H1435 null http://www.ebi.ac.uk/efo/EFO_0006658 node HP_0000622 Blurred vision This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible. http://purl.obolibrary.org/obo/HP_0000622 node NCBITaxon_186540 Sudan ebolavirus null http://purl.obolibrary.org/obo/NCBITaxon_186540 node Orphanet_90280 Chilblain lupus Editor note: ORDO classifies as genetic and has a separate subclass for familiar form http://www.orpha.net/ORDO/Orphanet_90280 node CHEBI_32643 5-acetamido-6-formamido-3-methyluracil null http://purl.obolibrary.org/obo/CHEBI_32643 node GO_0097337 response to ziprasidone null http://purl.obolibrary.org/obo/GO_0097337 node MONDO_0002817 adrenal gland cancer null http://purl.obolibrary.org/obo/MONDO_0002817 node Orphanet_99880 Hyperparathyroidism-jaw tumor syndrome null http://www.orpha.net/ORDO/Orphanet_99880 node CHEBI_76078 2-palmitoyl-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_76078 node MONDO_0004663 colon carcinoma in situ null http://purl.obolibrary.org/obo/MONDO_0004663 node EFO_0006452 malignant epithelioid mesothelioma null http://www.ebi.ac.uk/efo/EFO_0006452 node CHEBI_34795 3-isobutyl-1-methyl-7H-xanthine null http://purl.obolibrary.org/obo/CHEBI_34795 node Orphanet_2721 Odonto-onycho-dermal dysplasia null http://www.orpha.net/ORDO/Orphanet_2721 node EFO_0003378 obsolete_large intestine primordium null http://www.ebi.ac.uk/efo/EFO_0003378 node EFO_0009255 cecal neoplasm null http://www.ebi.ac.uk/efo/EFO_0009255 node Orphanet_280651 Acrodysostosis with multiple hormone resistance null http://www.orpha.net/ORDO/Orphanet_280651 node MONDO_0014347 short stature with microcephaly and distinctive facies null http://purl.obolibrary.org/obo/MONDO_0014347 node MONDO_0004751 disease of orbital part of eye adnexa Editor note: check this. MESH and DOID excludes eyeball which would make equivalent to adnexa http://purl.obolibrary.org/obo/MONDO_0004751 node Orphanet_1798 Dysostosis, Stanescu type null http://www.orpha.net/ORDO/Orphanet_1798 node EFO_0009068 dicer1 syndrome null http://www.ebi.ac.uk/efo/EFO_0009068 node EFO_1000830 bacterial endocarditis null http://www.ebi.ac.uk/efo/EFO_1000830 node EFO_0009478 vocal cord polyp null http://www.ebi.ac.uk/efo/EFO_0009478 node EFO_0009959 diverticular disease null http://www.ebi.ac.uk/efo/EFO_0009959 node Orphanet_269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature null http://www.orpha.net/ORDO/Orphanet_269573 node MONDO_0001487 intrahepatic bile duct cancer null http://purl.obolibrary.org/obo/MONDO_0001487 node EFO_0003466 obsolete_presumptive ectoderm null http://www.ebi.ac.uk/efo/EFO_0003466 node Orphanet_921 Abruzzo-Erickson syndrome null http://www.orpha.net/ORDO/Orphanet_921 node Orphanet_91494 Macular coloboma - cleft palate - hallux valgus null http://www.orpha.net/ORDO/Orphanet_91494 node EFO_0009156 mental retardation, autosomal dominant 48 null http://www.ebi.ac.uk/efo/EFO_0009156 node Orphanet_238613 Beckwith-Wiedemann syndrome due to NSD1 mutation null http://www.orpha.net/ORDO/Orphanet_238613 node EFO_0003940 physical activity null http://www.ebi.ac.uk/efo/EFO_0003940 node CL_0000871 splenic macrophage Role or process: immune, clearance of apoptotic and senescent cells. http://purl.obolibrary.org/obo/CL_0000871 node EFO_0009566 renal tubule disease null http://www.ebi.ac.uk/efo/EFO_0009566 node MONDO_0016677 toxic or drug-related embryofetopathy null http://purl.obolibrary.org/obo/MONDO_0016677 node EFO_1000051 reproductive system neoplasm null http://www.ebi.ac.uk/efo/EFO_1000051 node Orphanet_348 Fructose-1,6-bisphosphatase deficiency null http://www.orpha.net/ORDO/Orphanet_348 node EFO_0003554 obsolete_gill filament null http://www.ebi.ac.uk/efo/EFO_0003554 node HP_0011097 Epileptic spasm The maximum age of onset is between 3 and 12 months, the peak being at 6 months. However, spasms may start from birth, or appear long after the age of 12 months, including into adulthood. Infantile spasms represent a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and hypsarrhythmia (as demonstrated by electroencephalography). http://purl.obolibrary.org/obo/HP_0011097 node CHEBI_6916 mexiletine null http://purl.obolibrary.org/obo/CHEBI_6916 node Orphanet_261476 Monosomy Xp21 null http://www.orpha.net/ORDO/Orphanet_261476 node PO_0007123 LP.06 six leaves visible stage null http://purl.obolibrary.org/obo/PO_0007123 node Orphanet_1512 Crane-Heise syndrome null http://www.orpha.net/ORDO/Orphanet_1512 node EFO_1001998 complex regional pain syndrome null http://www.ebi.ac.uk/efo/EFO_1001998 node MONDO_0010817 autosomal dominant nonsyndromic deafness 2A null http://purl.obolibrary.org/obo/MONDO_0010817 node MONDO_0016075 filariasis null http://purl.obolibrary.org/obo/MONDO_0016075 node EFO_0003619 obsolete_presumptive pronephric mesoderm null http://www.ebi.ac.uk/efo/EFO_0003619 node HP_0012587 Macroscopic hematuria null http://purl.obolibrary.org/obo/HP_0012587 node EFO_0002133 CHP212 null http://www.ebi.ac.uk/efo/EFO_0002133 node EFO_0001206 MDAMB157 null http://www.ebi.ac.uk/efo/EFO_0001206 node EFO_0010213 single cell library construction protocol null http://www.ebi.ac.uk/efo/EFO_0010213 node Orphanet_183607 Genetic lens and zonula anomaly null http://www.orpha.net/ORDO/Orphanet_183607 node Orphanet_1600 Monosomy 18q null http://www.orpha.net/ORDO/Orphanet_1600 node CHEBI_28661 gamma-linolenic acid null http://purl.obolibrary.org/obo/CHEBI_28661 node PO_0007024 FL.04 end of flowering stage null http://purl.obolibrary.org/obo/PO_0007024 node UBERON_0001264 pancreas null http://purl.obolibrary.org/obo/UBERON_0001264 node UBERON_0002106 spleen null http://purl.obolibrary.org/obo/UBERON_0002106 node EFO_0006730 PA-TU-8988S null http://www.ebi.ac.uk/efo/EFO_0006730 node MONDO_0021064 jugulotympanic paraganglioma null http://purl.obolibrary.org/obo/MONDO_0021064 node HP_0012675 Iron accumulation in brain null http://purl.obolibrary.org/obo/HP_0012675 node EFO_0002221 KPL1 null http://www.ebi.ac.uk/efo/EFO_0002221 node GO_0006753 nucleoside phosphate metabolic process null http://purl.obolibrary.org/obo/GO_0006753 node NCBITaxon_242619 Porphyromonas gingivalis W83 null http://purl.obolibrary.org/obo/NCBITaxon_242619 node MONDO_0021462 benign neoplasm of rectum null http://purl.obolibrary.org/obo/MONDO_0021462 node DOID_0050890 synucleinopathy null http://purl.obolibrary.org/obo/DOID_0050890 node Orphanet_43 X-linked adrenoleukodystrophy null http://www.orpha.net/ORDO/Orphanet_43 node Orphanet_2199 Epidermolytic palmoplantar keratoderma null http://www.orpha.net/ORDO/Orphanet_2199 node EFO_0010762 advanced glycosylation end product-specific receptor ligand measurement null http://www.ebi.ac.uk/efo/EFO_0010762 node EFO_0003071 obsolete_sacrum null http://www.ebi.ac.uk/efo/EFO_0003071 node MONDO_0021345 carcinoma of pharynx null http://purl.obolibrary.org/obo/MONDO_0021345 node Orphanet_2891 Pili torti - developmental delay - neurological abnormalities null http://www.orpha.net/ORDO/Orphanet_2891 node CL_0000100 motor neuron null http://purl.obolibrary.org/obo/CL_0000100 node NCBITaxon_292 Burkholderia cepacia null http://purl.obolibrary.org/obo/NCBITaxon_292 node MONDO_0002996 cavernous sinus meningioma null http://purl.obolibrary.org/obo/MONDO_0002996 node GO_0012506 vesicle membrane null http://purl.obolibrary.org/obo/GO_0012506 node Orphanet_101088 X-linked hyper-IgM syndrome null http://www.orpha.net/ORDO/Orphanet_101088 node NCBITaxon_596 Salmonella enterica subsp. enterica serovar Muenchen null http://purl.obolibrary.org/obo/NCBITaxon_596 node EFO_0006701 NUGC-2 null http://www.ebi.ac.uk/efo/EFO_0006701 node HP_0011342 Mild global developmental delay null http://purl.obolibrary.org/obo/HP_0011342 node Orphanet_77292 Niemann-Pick disease type A null http://www.orpha.net/ORDO/Orphanet_77292 node Orphanet_376724 Generalized isolated dystonia Editor note: consider merging with generalized dystonia if no complex forms http://www.orpha.net/ORDO/Orphanet_376724 node Orphanet_268973 Isolated focal cortical dysplasia type Ia null http://www.orpha.net/ORDO/Orphanet_268973 node MONDO_0018559 fetal lower urinary tract obstruction null http://purl.obolibrary.org/obo/MONDO_0018559 node Orphanet_2124 Cavernous hemangiomas of face - supraumbilical midline raphe null http://www.orpha.net/ORDO/Orphanet_2124 node EFO_0000224 acute promyelocytic leukemia null http://www.ebi.ac.uk/efo/EFO_0000224 node Orphanet_199332 Endocrine-cerebro-osteodysplasia syndrome null http://www.orpha.net/ORDO/Orphanet_199332 node EFO_0010850 HG02840 null http://www.ebi.ac.uk/efo/EFO_0010850 node Orphanet_251061 7q31 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_251061 node EFO_0000037 CS57620 null http://www.ebi.ac.uk/efo/EFO_0000037 node EFO_0005335 GM10266 null http://www.ebi.ac.uk/efo/EFO_0005335 node EFO_0006922 delivery measurement null http://www.ebi.ac.uk/efo/EFO_0006922 node Orphanet_364055 Severe early-childhood-onset retinal dystrophy null http://www.orpha.net/ORDO/Orphanet_364055 node CHEBI_474053 cefazolin null http://purl.obolibrary.org/obo/CHEBI_474053 node EFO_0005148 Col-0 null http://www.ebi.ac.uk/efo/EFO_0005148 node EFO_0007077 GM06999 null http://www.ebi.ac.uk/efo/EFO_0007077 node GO_0042060 wound healing null http://purl.obolibrary.org/obo/GO_0042060 node Orphanet_98632 Glaucoma associated with neural crest cell migration anomaly null http://www.orpha.net/ORDO/Orphanet_98632 node Orphanet_85169 Familial digital arthropathy-brachydactyly null http://www.orpha.net/ORDO/Orphanet_85169 node Orphanet_307052 Rare genetic parkinsonian disorder null http://www.orpha.net/ORDO/Orphanet_307052 node UBERON_0003058 hypochord Unlike in frogs and axolotl, the hypochord does not appear to be endodermally derived[ZFA]. near metamorphosis the hypochord fuses to the coccyx, thereby forming the urostyle[AAO] http://purl.obolibrary.org/obo/UBERON_0003058 node Orphanet_2995 Baraitser-Winter syndrome null http://www.orpha.net/ORDO/Orphanet_2995 node EFO_0008500 ductal breast hyperplasia null http://www.ebi.ac.uk/efo/EFO_0008500 node NCBITaxon_1491 Clostridium botulinum null http://purl.obolibrary.org/obo/NCBITaxon_1491 node UBERON_0001899 epithalamus null http://purl.obolibrary.org/obo/UBERON_0001899 node EFO_0007551 high content screen of cells treated with library of siRNAs null http://www.ebi.ac.uk/efo/EFO_0007551 node Orphanet_293144 Familial clubfoot due to 5q31 microdeletion null http://www.orpha.net/ORDO/Orphanet_293144 node UBERON_0006849 scapula null http://purl.obolibrary.org/obo/UBERON_0006849 node EFO_0008347 response to trastuzumab null http://www.ebi.ac.uk/efo/EFO_0008347 node Orphanet_3352 Tricho-dento-osseous syndrome null http://www.orpha.net/ORDO/Orphanet_3352 node EFO_0001978 obsolete_perirhinal cortex null http://www.ebi.ac.uk/efo/EFO_0001978 node EFO_0008828 Nm-seq null http://www.ebi.ac.uk/efo/EFO_0008828 node EFO_0000125 CS57811 null http://www.ebi.ac.uk/efo/EFO_0000125 node EFO_0001288 cleavage 64-cell null http://www.ebi.ac.uk/efo/EFO_0001288 node MONDO_0002508 gingivitis null http://purl.obolibrary.org/obo/MONDO_0002508 node Orphanet_1027 Autosomal recessive amelia null http://www.orpha.net/ORDO/Orphanet_1027 node EFO_0005236 NT2/D1 null http://www.ebi.ac.uk/efo/EFO_0005236 node EFO_0010693 tooth-supporting structures disease null http://www.ebi.ac.uk/efo/EFO_0010693 node EFO_0008490 ampulla of Vater adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0008490 node EFO_0001762 stimulus or stress design null http://www.ebi.ac.uk/efo/EFO_0001762 node Orphanet_3440 Waardenburg syndrome null http://www.orpha.net/ORDO/Orphanet_3440 node Orphanet_103912 Epithelio-exfoliative colitis - deafness null http://www.orpha.net/ORDO/Orphanet_103912 node EFO_0007388 myelophthisic anemia null http://www.ebi.ac.uk/efo/EFO_0007388 node MONDO_0002314 chronic conjunctivitis null http://purl.obolibrary.org/obo/MONDO_0002314 node EFO_0008435 gestational weight gain measurement null http://www.ebi.ac.uk/efo/EFO_0008435 node GO_0008152 metabolic process Note that metabolic processes do not include single functions or processes such as protein-protein interactions, protein-nucleic acids, nor receptor-ligand interactions. http://purl.obolibrary.org/obo/GO_0008152 node HP_0003805 Rimmed vacuoles Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers. http://purl.obolibrary.org/obo/HP_0003805 node EFO_1000779 vulvar seborrheic keratosis null http://www.ebi.ac.uk/efo/EFO_1000779 node EFO_0001376 synovial sarcoma null http://www.ebi.ac.uk/efo/EFO_0001376 node MONDO_0024271 intestinal helminthiasis null http://purl.obolibrary.org/obo/MONDO_0024271 node Orphanet_329802 5p13 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_329802 node EFO_1000684 dermatitis herpetiformis null http://www.ebi.ac.uk/efo/EFO_1000684 node PATO_0001162 increased concentration null http://purl.obolibrary.org/obo/PATO_0001162 node GO_0044456 synapse part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0044456 node CHEBI_39116 pyrethroid ester insecticide null http://purl.obolibrary.org/obo/CHEBI_39116 node EFO_0010781 delta/notch like EGF Repeat Containing protein measurement null http://www.ebi.ac.uk/efo/EFO_0010781 node MONDO_0030031 lissencephaly 10 null http://purl.obolibrary.org/obo/MONDO_0030031 node EFO_0009420 CXCL12 measurement null http://www.ebi.ac.uk/efo/EFO_0009420 node MONDO_0002402 malignant giant cell tumor null http://purl.obolibrary.org/obo/MONDO_0002402 node UBERON_0000369 corpus striatum * According to the 1917 version of Gray's Anatomy, it is the combination of the lentiform nucleus (also known as the lenticular nucleus) and the caudate nucleus * According to BrainInfo it is a part of the basal ganglia comprising the globus pallidus and striatum http://purl.obolibrary.org/obo/UBERON_0000369 node CHEBI_63916 iloprost null http://purl.obolibrary.org/obo/CHEBI_63916 node Orphanet_2500 Acrogeria null http://www.orpha.net/ORDO/Orphanet_2500 node NCBITaxon_12287 Flock house virus null http://purl.obolibrary.org/obo/NCBITaxon_12287 node UBERON_2000726 somite 14 null http://purl.obolibrary.org/obo/UBERON_2000726 node Orphanet_79409 Recessive dystrophic epidermolysis bullosa inversa null http://www.orpha.net/ORDO/Orphanet_79409 node EFO_0003631 obsolete_pharyngeal pouch 1 null http://www.ebi.ac.uk/efo/EFO_0003631 node MONDO_0019116 catecholamine-producing tumor null http://purl.obolibrary.org/obo/MONDO_0019116 node Orphanet_96192 Paternal uniparental disomy of chromosome 7 null http://www.orpha.net/ORDO/Orphanet_96192 node Orphanet_217377 Microduplication Xp11.22-p11.23 syndrome null http://www.orpha.net/ORDO/Orphanet_217377 node EFO_0003959 cleft lip null http://www.ebi.ac.uk/efo/EFO_0003959 node EFO_1000269 Gastric Choriocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000269 node Orphanet_115 Congenital contractural arachnodactyly null http://www.orpha.net/ORDO/Orphanet_115 node UBERON_2000814 opercular lateral line neuromast null http://purl.obolibrary.org/obo/UBERON_2000814 node Orphanet_700 Alopecia totalis null http://www.orpha.net/ORDO/Orphanet_700 node EFO_0009731 polyarticular juvenile idiopathic arthritis, rheumatoid factor positive null http://www.ebi.ac.uk/efo/EFO_0009731 node Orphanet_99642 Spondyloepimetaphyseal dysplasia, Handigodu type null http://www.orpha.net/ORDO/Orphanet_99642 node Orphanet_98538 Ataxia with dementia null http://www.orpha.net/ORDO/Orphanet_98538 node Orphanet_206970 Myotonic syndrome null http://www.orpha.net/ORDO/Orphanet_206970 node CL_0000966 Bm4 B cell Bm4 B cells are also reportedly CD10-positive, CD23-negative, CD39-negative, CD44-positive, and CD71-positive. http://purl.obolibrary.org/obo/CL_0000966 node EFO_1000357 Malignant Ovarian Brenner Tumor null http://www.ebi.ac.uk/efo/EFO_1000357 node EFO_0009158 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy null http://www.ebi.ac.uk/efo/EFO_0009158 node EFO_0007003 prolactin measurement null http://www.ebi.ac.uk/efo/EFO_0007003 node Orphanet_71267 Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability null http://www.orpha.net/ORDO/Orphanet_71267 node EFO_0004116 obsolete_QC type flag null http://www.ebi.ac.uk/efo/EFO_0004116 node MONDO_0021141 acquired null http://purl.obolibrary.org/obo/MONDO_0021141 node Orphanet_166032 Multiple epiphyseal dysplasia, with miniepiphyses null http://www.orpha.net/ORDO/Orphanet_166032 node UBERON_2000693 tangential nucleus null http://purl.obolibrary.org/obo/UBERON_2000693 node EFO_0000792 craniofacial tissue null http://www.ebi.ac.uk/efo/EFO_0000792 node Orphanet_295159 Polysyndactyly, unilateral null http://www.orpha.net/ORDO/Orphanet_295159 node Orphanet_268114 RAS-associated autoimmune leukoproliferative disease null http://www.orpha.net/ORDO/Orphanet_268114 node EFO_1001296 colon diverticulum null http://www.ebi.ac.uk/efo/EFO_1001296 node MONDO_0016405 sterol metabolism disorder with epilepsy null http://purl.obolibrary.org/obo/MONDO_0016405 node EFO_0002439 mesophyll cell null http://www.ebi.ac.uk/efo/EFO_0002439 node EFO_1001770 Carcinoma, Lewis Lung null http://www.ebi.ac.uk/efo/EFO_1001770 node EFO_0003157 obsolete_Chinese null http://www.ebi.ac.uk/efo/EFO_0003157 node EFO_0004204 Illumina HiSeq 1000 null http://www.ebi.ac.uk/efo/EFO_0004204 node UBERON_2000549 posttemporal The posttemporal is commonly a Y-shaped bone with two elongate processes. The dorsal process may be equal or longer than the ventral process or the opposite. The ventral process may be absent in some teleosts. http://purl.obolibrary.org/obo/UBERON_2000549 node Orphanet_217635 Familial restrictive cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_217635 node Orphanet_2143 Donnai-Barrow syndrome null http://www.orpha.net/ORDO/Orphanet_2143 node CHEBI_28277 brassinolide null http://purl.obolibrary.org/obo/CHEBI_28277 node EFO_1001403 Postpartum Thyroiditis null http://www.ebi.ac.uk/efo/EFO_1001403 node MONDO_0017396 toxic dermatosis null http://purl.obolibrary.org/obo/MONDO_0017396 node EFO_0002527 obsolete_descending thoracic aorta null http://www.ebi.ac.uk/efo/EFO_0002527 node EFO_0004906 lymph node metastatic carcinoma null http://www.ebi.ac.uk/efo/EFO_0004906 node UBERON_0002108 small intestine null http://purl.obolibrary.org/obo/UBERON_0002108 node HP_0030766 Ear pain null http://purl.obolibrary.org/obo/HP_0030766 node CLO_0013077 GM17289 null http://purl.obolibrary.org/obo/CLO_0013077 node EFO_0005054 QRS complex null http://www.ebi.ac.uk/efo/EFO_0005054 node EFO_0008798 MBDCap-Seq null http://www.ebi.ac.uk/efo/EFO_0008798 node EFO_0000800 obsolete_liver and biliary system null http://www.ebi.ac.uk/efo/EFO_0000800 node EFO_0007798 linguistic error measurement null http://www.ebi.ac.uk/efo/EFO_0007798 node Orphanet_309294 sialidosis null http://www.orpha.net/ORDO/Orphanet_309294 node EFO_0010060 chronic human papillomavirus infection null http://www.ebi.ac.uk/efo/EFO_0010060 node EFO_0004513 bone geometry null http://www.ebi.ac.uk/efo/EFO_0004513 node EFO_0004308 leukocyte count null http://www.ebi.ac.uk/efo/EFO_0004308 node CL_0002371 somatic cell null http://purl.obolibrary.org/obo/CL_0002371 node EFO_1001304 Dental enamel hypoplasia null http://www.ebi.ac.uk/efo/EFO_1001304 node Orphanet_295024 Congenital pseudoarthrosis of the radius null http://www.orpha.net/ORDO/Orphanet_295024 node Orphanet_79257 GM1 gangliosidosis type 3 null http://www.orpha.net/ORDO/Orphanet_79257 node MONDO_0002471 bursitis null http://purl.obolibrary.org/obo/MONDO_0002471 node ZFA_0001047 slow muscle cell somite 10 null http://purl.obolibrary.org/obo/ZFA_0001047 node Orphanet_84271 Sporadic idiopathic steroid-resistant nephrotic syndrome null http://www.orpha.net/ORDO/Orphanet_84271 node NCBITaxon_85692 Triticum dicoccoides null http://purl.obolibrary.org/obo/NCBITaxon_85692 node Orphanet_782 Axenfeld-Rieger syndrome null http://www.orpha.net/ORDO/Orphanet_782 node EFO_0004095 data file null http://www.ebi.ac.uk/efo/EFO_0004095 node Orphanet_595 Centronuclear myopathy null http://www.orpha.net/ORDO/Orphanet_595 node EFO_0008886 RedBS-Seq null http://www.ebi.ac.uk/efo/EFO_0008886 node EFO_0008905 scBS-seq null http://www.ebi.ac.uk/efo/EFO_0008905 node GO_0042278 purine nucleoside metabolic process null http://purl.obolibrary.org/obo/GO_0042278 node EFO_0005500 4-cell embryo Ce null http://www.ebi.ac.uk/efo/EFO_0005500 node EFO_0007886 DDT metabolite measurement null http://www.ebi.ac.uk/efo/EFO_0007886 node HP_0011121 Abnormality of skin morphology null http://purl.obolibrary.org/obo/HP_0011121 node MONDO_0002588 thymoma type A null http://purl.obolibrary.org/obo/MONDO_0002588 node Orphanet_268261 21q22.13q22.2 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_268261 node MONDO_0019286 sebaceous gland anomaly null http://purl.obolibrary.org/obo/MONDO_0019286 node EFO_0008038 BMI-adjusted hip bone size null http://www.ebi.ac.uk/efo/EFO_0008038 node CLO_0015123 GM17125 null http://purl.obolibrary.org/obo/CLO_0015123 node EFO_0008519 primary hyperparathyroidism null http://www.ebi.ac.uk/efo/EFO_0008519 node EFO_0007260 epidural abscess null http://www.ebi.ac.uk/efo/EFO_0007260 node Orphanet_248361 Rare thrombotic disorder due to a constitutional coagulation factors defect null http://www.orpha.net/ORDO/Orphanet_248361 node Orphanet_79158 Cerebral organic aciduria null http://www.orpha.net/ORDO/Orphanet_79158 node MONDO_0002372 ovarian monodermal and highly specialized teratoma null http://purl.obolibrary.org/obo/MONDO_0002372 node EFO_0001640 B cell derived cell line null http://www.ebi.ac.uk/efo/EFO_0001640 node Orphanet_99789 Dentin dysplasia type I null http://www.orpha.net/ORDO/Orphanet_99789 node EFO_0007946 tiredness measurement null http://www.ebi.ac.uk/efo/EFO_0007946 node CL_0001029 common dendritic progenitor Surface markers are for mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000041) CDP are reportedly CD2-negative, CD3-negative, CD4-negative, CD5-negative, CD8a-negative, CD11c-positive, CD14-negative, CD19-negative, CD20-negative, CD56-negative, B220-negative, Ly6g-negative, MHCII-positive, and Ter119-negative. (PMID:19243617). http://purl.obolibrary.org/obo/CL_0001029 node MONDO_0002195 vulvar squamous neoplasm null http://purl.obolibrary.org/obo/MONDO_0002195 node Orphanet_98904 Congenital myopathy with excess of thin filaments null http://www.orpha.net/ORDO/Orphanet_98904 node EFO_0007769 thoracic-to-hip circumference ratio measurement null http://www.ebi.ac.uk/efo/EFO_0007769 node EFO_0006403 G140 null http://www.ebi.ac.uk/efo/EFO_0006403 node Orphanet_209970 Episodic ataxia type 7 null http://www.orpha.net/ORDO/Orphanet_209970 node EFO_0008126 extracellular matrix protein 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008126 node MONDO_0045035 opportunistic infectious null http://purl.obolibrary.org/obo/MONDO_0045035 node UBERON_0006596 presumptive blood null http://purl.obolibrary.org/obo/UBERON_0006596 node CLO_0017045 GM17734 null http://purl.obolibrary.org/obo/CLO_0017045 node Orphanet_2653 Osteochondrodysplatic nanism - deafness - retinitis pigmentosa null http://www.orpha.net/ORDO/Orphanet_2653 node Orphanet_90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease null http://www.orpha.net/ORDO/Orphanet_90114 node EFO_0009932 HMG CoA reductase inhibitor use measurement null http://www.ebi.ac.uk/efo/EFO_0009932 node NCBITaxon_1290391 Botrytis cinerea BcDW1 null http://purl.obolibrary.org/obo/NCBITaxon_1290391 node EFO_0007553 high content screen of cells in treated with a compound library null http://www.ebi.ac.uk/efo/EFO_0007553 node Orphanet_99877 Familial parathyroid adenoma null http://www.orpha.net/ORDO/Orphanet_99877 node NCBITaxon_358 Agrobacterium tumefaciens null http://purl.obolibrary.org/obo/NCBITaxon_358 node EFO_0001082 293T null http://www.ebi.ac.uk/efo/EFO_0001082 node Orphanet_98306 Familial partial lipodystrophy null http://www.orpha.net/ORDO/Orphanet_98306 node HP_0000786 Primary amenorrhea null http://purl.obolibrary.org/obo/HP_0000786 node CL_0002442 CD94-negative, Ly49CI-negative natural killer cell, mouse null http://purl.obolibrary.org/obo/CL_0002442 node Orphanet_2718 Oculotrichodysplasia null http://www.orpha.net/ORDO/Orphanet_2718 node EFO_1000077 AIDS-Related Primary Central Nervous System Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000077 node Orphanet_93160 Hypocalcemic vitamin D-resistant rickets Editor note: ORDO uses dependent-vs-resistant to name types 2 and 1. NCIT seems to confuse type 2 with type 2A http://www.orpha.net/ORDO/Orphanet_93160 node EFO_1000558 Syringocystadenoma Papilliferum null http://www.ebi.ac.uk/efo/EFO_1000558 node Orphanet_369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome null http://www.orpha.net/ORDO/Orphanet_369861 node HP_0004348 Abnormality of bone mineral density null http://purl.obolibrary.org/obo/HP_0004348 node CLO_0011436 GM09581 null http://purl.obolibrary.org/obo/CLO_0011436 node MONDO_0004748 lip disease null http://purl.obolibrary.org/obo/MONDO_0004748 node EFO_0001170 HCC1187 null http://www.ebi.ac.uk/efo/EFO_0001170 node UBERON_0011004 pharyngeal arch cartilage null http://purl.obolibrary.org/obo/UBERON_0011004 node EFO_0004772 early onset hypertension null http://www.ebi.ac.uk/efo/EFO_0004772 node EFO_0004567 antipsychotic drug related weight gain null http://www.ebi.ac.uk/efo/EFO_0004567 node EFO_0009517 checkup null http://www.ebi.ac.uk/efo/EFO_0009517 node CHEBI_73858 1-stearoyl-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_73858 node UBERON_0001069 head of pancreas null http://purl.obolibrary.org/obo/UBERON_0001069 node EFO_0009422 CXCL5 measurement null http://www.ebi.ac.uk/efo/EFO_0009422 node Orphanet_95430 Congenital tracheomalacia null http://www.orpha.net/ORDO/Orphanet_95430 node GO_0009163 nucleoside biosynthetic process null http://purl.obolibrary.org/obo/GO_0009163 node MONDO_0042982 GATA2 deficiency with susceptibility to MDS/AML The most penetrant phenotype among all of the GATA2 related disease entities (MonoMAC, Emberger Syndrome, familial MDS/AML) is myeloid neoplasia; due to the absence of clearly defined and/or distinct differences in molecular mechanism (haploinsufficiency), coupled with noted phenotypic variability (both intra- and inter-familial) these entities appear to be part of a broader disease entity http://purl.obolibrary.org/obo/MONDO_0042982 node EFO_1001971 thyroid gland sarcoma null http://www.ebi.ac.uk/efo/EFO_1001971 node EFO_1001152 renal osteodystrophy null http://www.ebi.ac.uk/efo/EFO_1001152 node CHEBI_25048 linolenic acid null http://purl.obolibrary.org/obo/CHEBI_25048 node EFO_0004655 obsolete_response to methylphenidate null http://www.ebi.ac.uk/efo/EFO_0004655 node CHEBI_33295 diagnostic agent null http://purl.obolibrary.org/obo/CHEBI_33295 node MONDO_0010372 Clark-Baraitser syndrome null http://purl.obolibrary.org/obo/MONDO_0010372 node EFO_0009605 pancreas disease null http://www.ebi.ac.uk/efo/EFO_0009605 node Orphanet_217017 Zechi-Ceide syndrome null http://www.orpha.net/ORDO/Orphanet_217017 node Orphanet_289527 Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency null http://www.orpha.net/ORDO/Orphanet_289527 node EFO_1001373 Multiple Organ Failure null http://www.ebi.ac.uk/efo/EFO_1001373 node EFO_1001854 subphrenic abscess null http://www.ebi.ac.uk/efo/EFO_1001854 node EFO_0002114 obsolete_BE2C null http://www.ebi.ac.uk/efo/EFO_0002114 node HP_0010750 Dermatochalasis null http://purl.obolibrary.org/obo/HP_0010750 node MONDO_0003049 ovarian large-cell neuroendocrine carcinoma null http://purl.obolibrary.org/obo/MONDO_0003049 node Orphanet_295103 Acheiria, bilateral null http://www.orpha.net/ORDO/Orphanet_295103 node EFO_0010472 creatine measurement null http://www.ebi.ac.uk/efo/EFO_0010472 node CHEBI_100246 norfloxacin null http://purl.obolibrary.org/obo/CHEBI_100246 node EFO_0010295 corpus callosum anterior volume measurement null http://www.ebi.ac.uk/efo/EFO_0010295 node EFO_0002335 obsolete_SKNAS null http://www.ebi.ac.uk/efo/EFO_0002335 node CLO_0013752 GM17184 null http://purl.obolibrary.org/obo/CLO_0013752 node EFO_1001461 endothelial dysfunction null http://www.ebi.ac.uk/efo/EFO_1001461 node Orphanet_264992 Genetic interstitial lung disease null http://www.orpha.net/ORDO/Orphanet_264992 node Orphanet_101101 Charcot-Marie-Tooth disease type 2B2 null http://www.orpha.net/ORDO/Orphanet_101101 node EFO_0005891 obsolete_renal cortex null http://www.ebi.ac.uk/efo/EFO_0005891 node NCBITaxon_3649 Carica papaya null http://purl.obolibrary.org/obo/NCBITaxon_3649 node EFO_0004964 total RNA null http://www.ebi.ac.uk/efo/EFO_0004964 node MONDO_0018262 fetal anticonvulsant syndrome null http://purl.obolibrary.org/obo/MONDO_0018262 node Orphanet_247623 Perinatal lethal hypophosphatasia null http://www.orpha.net/ORDO/Orphanet_247623 node NCBITaxon_47929 Macacine herpesvirus 3 null http://purl.obolibrary.org/obo/NCBITaxon_47929 node NCBITaxon_4006 Linum usitatissimum null http://purl.obolibrary.org/obo/NCBITaxon_4006 node NCBITaxon_28150 Salmonella enterica subsp. enterica serovar Senftenberg null http://purl.obolibrary.org/obo/NCBITaxon_28150 node EFO_0006727 OVSAHO null http://www.ebi.ac.uk/efo/EFO_0006727 node CHEBI_64212 sulindac sulfone null http://purl.obolibrary.org/obo/CHEBI_64212 node Orphanet_331193 Other immunodeficiency syndromes due to defects in innate immunity Editor note: consider merging http://www.orpha.net/ORDO/Orphanet_331193 node MONDO_0018609 syndromic hereditary optic neuropathy null http://purl.obolibrary.org/obo/MONDO_0018609 node EFO_0002218 KG1 null http://www.ebi.ac.uk/efo/EFO_0002218 node CL_0000094 granulocyte null http://purl.obolibrary.org/obo/CL_0000094 node Orphanet_216796 Osteogenesis imperfecta type 1 Editor note: we follow ordo and place van der hoeve as exact synonym http://www.orpha.net/ORDO/Orphanet_216796 node GO_0030218 erythrocyte differentiation null http://purl.obolibrary.org/obo/GO_0030218 node HP_0002251 Aganglionic megacolon Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. http://purl.obolibrary.org/obo/HP_0002251 node EFO_0007742 QRS amplitude null http://www.ebi.ac.uk/efo/EFO_0007742 node EFO_0006815 tiller null http://www.ebi.ac.uk/efo/EFO_0006815 node EFO_0003410 embryonic midgut interstitial cell null http://www.ebi.ac.uk/efo/EFO_0003410 node Orphanet_100047 Esophageal duplication cyst null http://www.orpha.net/ORDO/Orphanet_100047 node EFO_1001019 lip cancer null http://www.ebi.ac.uk/efo/EFO_1001019 node EFO_0000338 obsolete_chronic granulomatous disease null http://www.ebi.ac.uk/efo/EFO_0000338 node HP_0009778 Short thumb null http://purl.obolibrary.org/obo/HP_0009778 node EFO_0004172 cot filtration for moderately repetitive genomic DNA null http://www.ebi.ac.uk/efo/EFO_0004172 node EFO_0010759 male reproductive system measurement null http://www.ebi.ac.uk/efo/EFO_0010759 node MONDO_0013093 glioma susceptibility 3 null http://purl.obolibrary.org/obo/MONDO_0013093 node EFO_0005449 PEO6 null http://www.ebi.ac.uk/efo/EFO_0005449 node Orphanet_2888 Pierre Robin syndrome - faciodigital anomaly null http://www.orpha.net/ORDO/Orphanet_2888 node Orphanet_98697 Genetic keratinization disorder associated with ocular features null http://www.orpha.net/ORDO/Orphanet_98697 node CHEBI_42111 (R)-lactic acid null http://purl.obolibrary.org/obo/CHEBI_42111 node CHEBI_46661 asbestos null http://purl.obolibrary.org/obo/CHEBI_46661 node EFO_0007830 food addiction measurement null http://www.ebi.ac.uk/efo/EFO_0007830 node EFO_0006903 hepatocyte growth factor measurement null http://www.ebi.ac.uk/efo/EFO_0006903 node Orphanet_90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB null http://www.orpha.net/ORDO/Orphanet_90636 node MONDO_0100058 hypervalinemia and hyperleucine-isoleucinemia null http://purl.obolibrary.org/obo/MONDO_0100058 node EFO_1000311 Juvenile Xanthogranuloma null http://www.ebi.ac.uk/efo/EFO_1000311 node EFO_0010366 lysophosphatidylethanolamine 16:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010366 node EFO_1002034 secondary hypertension null http://www.ebi.ac.uk/efo/EFO_1002034 node EFO_0010847 HG02759 null http://www.ebi.ac.uk/efo/EFO_0010847 node EFO_0004260 bone disease null http://www.ebi.ac.uk/efo/EFO_0004260 node GO_0097329 response to antimetabolite null http://purl.obolibrary.org/obo/GO_0097329 node EFO_0006660 NCI-H1568 null http://www.ebi.ac.uk/efo/EFO_0006660 node HP_0004758 Effort-induced polymorphic ventricular tachycardia null http://purl.obolibrary.org/obo/HP_0004758 node EFO_0005056 age at death null http://www.ebi.ac.uk/efo/EFO_0005056 node Orphanet_247815 Autosomal recessive ataxia due to PEX10 deficiency Editor note: TODO add gene http://www.orpha.net/ORDO/Orphanet_247815 node Orphanet_98962 Granular corneal dystrophy type I null http://www.orpha.net/ORDO/Orphanet_98962 node Orphanet_2256 Fibulo-ulnar hypoplasia - renal anomalies null http://www.orpha.net/ORDO/Orphanet_2256 node MONDO_0000828 juvenile-onset Parkinson disease null http://purl.obolibrary.org/obo/MONDO_0000828 node BTO_0004263 COM-3 cell null http://purl.obolibrary.org/obo/BTO_0004263 node Orphanet_140471 Hereditary sensory and autonomic neuropathy null http://www.orpha.net/ORDO/Orphanet_140471 node Orphanet_319480 Acute myeloid leukemia with CEBPA somatic mutations null http://www.orpha.net/ORDO/Orphanet_319480 node Orphanet_98095 Autosomal recessive congenital cerebellar ataxia null http://www.orpha.net/ORDO/Orphanet_98095 node MONDO_0017345 Epstein-Barr virus-associated mesenchymal tumor null http://purl.obolibrary.org/obo/MONDO_0017345 node MONDO_0000212 hypercalcemia, infantile null http://purl.obolibrary.org/obo/MONDO_0000212 node MONDO_0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome null http://purl.obolibrary.org/obo/MONDO_0014725 node HP_0001898 Increased red blood cell mass null http://purl.obolibrary.org/obo/HP_0001898 node MONDO_0100146 ATP6AP2-related disorder null http://purl.obolibrary.org/obo/MONDO_0100146 node Orphanet_2209 Maternal hyperphenylalaninemia null http://www.orpha.net/ORDO/Orphanet_2209 node CL_0000352 epiblast cell null http://purl.obolibrary.org/obo/CL_0000352 node NCBITaxon_272843 Pasteurella multocida subsp. multocida str. Pm70 null http://purl.obolibrary.org/obo/NCBITaxon_272843 node NCBITaxon_375052 Synechococcus phage S-IO21 null http://purl.obolibrary.org/obo/NCBITaxon_375052 node EFO_0007339 late congenital syphilis null http://www.ebi.ac.uk/efo/EFO_0007339 node EFO_1000822 ascorbic acid deficiency null http://www.ebi.ac.uk/efo/EFO_1000822 node EFO_0003844 ureteral neoplasm null http://www.ebi.ac.uk/efo/EFO_0003844 node CHEBI_34892 nocodazole null http://purl.obolibrary.org/obo/CHEBI_34892 node CHEBI_23924 enzyme inhibitor null http://purl.obolibrary.org/obo/CHEBI_23924 node NCBITaxon_5207 Cryptococcus neoformans null http://purl.obolibrary.org/obo/NCBITaxon_5207 node EFO_1000635 hemangioma null http://www.ebi.ac.uk/efo/EFO_1000635 node MONDO_0014813 hypomyelinating leukodystrophy 13 null http://purl.obolibrary.org/obo/MONDO_0014813 node EFO_0008692 CLaP null http://www.ebi.ac.uk/efo/EFO_0008692 node EFO_0007050 HSV1 seropositivity null http://www.ebi.ac.uk/efo/EFO_0007050 node EFO_0007427 pericarditis null http://www.ebi.ac.uk/efo/EFO_0007427 node Orphanet_2432 Macrosomia - microphthalmia - cleft palate null http://www.orpha.net/ORDO/Orphanet_2432 node Orphanet_269215 Isolated Dandy-Walker malformation without hydrocephalus null http://www.orpha.net/ORDO/Orphanet_269215 node EFO_0002885 breast cancer cell line null http://www.ebi.ac.uk/efo/EFO_0002885 node NCBITaxon_49451 Nicotiana attenuata null http://purl.obolibrary.org/obo/NCBITaxon_49451 node EFO_0003932 bacterial vaginosis null http://www.ebi.ac.uk/efo/EFO_0003932 node EFO_1000242 Endometrial Undifferentiated Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000242 node PATO_0001159 concentrated null http://purl.obolibrary.org/obo/PATO_0001159 node EFO_0002698 array null http://www.ebi.ac.uk/efo/EFO_0002698 node EFO_1000723 leg dermatosis null http://www.ebi.ac.uk/efo/EFO_1000723 node HP_0000565 Esotropia Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria. http://purl.obolibrary.org/obo/HP_0000565 node EFO_0001261 ZF4 null http://www.ebi.ac.uk/efo/EFO_0001261 node NCBITaxon_611 Salmonella enterica subsp. enterica serovar Heidelberg null http://purl.obolibrary.org/obo/NCBITaxon_611 node CL_0002034 long term hematopoietic stem cell Markers are associated with mouse cells. http://purl.obolibrary.org/obo/CL_0002034 node EFO_0001084 3T3-L1 null http://www.ebi.ac.uk/efo/EFO_0001084 node MONDO_0003724 non-proliferative fibrocystic change of the breast null http://purl.obolibrary.org/obo/MONDO_0003724 node Orphanet_632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Editor note: classified as both isolated and syndromic in ORDO http://www.orpha.net/ORDO/Orphanet_632 node EFO_0008840 oxBS-Seq null http://www.ebi.ac.uk/efo/EFO_0008840 node EFO_1000330 Low Grade Vulvar Intraepithelial Neoplasia null http://www.ebi.ac.uk/efo/EFO_1000330 node EFO_0002786 GM12892 null http://www.ebi.ac.uk/efo/EFO_0002786 node CHEBI_16566 sphinganine null http://purl.obolibrary.org/obo/CHEBI_16566 node MONDO_0044965 abdominal and pelvic region disorder null http://purl.obolibrary.org/obo/MONDO_0044965 node MONDO_0024414 anaerobic cellulitis null http://purl.obolibrary.org/obo/MONDO_0024414 node EFO_0001172 HCC1500 null http://www.ebi.ac.uk/efo/EFO_0001172 node Orphanet_73245 Spinal muscular atrophy - Dandy-Walker malformation - cataracts null http://www.orpha.net/ORDO/Orphanet_73245 node NCBITaxon_226126 Saccharomyces mikatae IFO 1815 null http://purl.obolibrary.org/obo/NCBITaxon_226126 node NCBITaxon_51751 Python regius null http://purl.obolibrary.org/obo/NCBITaxon_51751 node NCBITaxon_1255 Pediococcus pentosaceus null http://purl.obolibrary.org/obo/NCBITaxon_1255 node MONDO_0003812 ovarian endometrial cancer null http://purl.obolibrary.org/obo/MONDO_0003812 node Orphanet_178461 X-linked myopathy with postural muscle atrophy null http://www.orpha.net/ORDO/Orphanet_178461 node UBERON_0018549 ventral wall of dorsal aorta null http://purl.obolibrary.org/obo/UBERON_0018549 node HP_0000260 Wide anterior fontanel null http://purl.obolibrary.org/obo/HP_0000260 node MONDO_0001222 congenital T-cell immunodeficiency null http://purl.obolibrary.org/obo/MONDO_0001222 node UBERON_0001322 sciatic nerve null http://purl.obolibrary.org/obo/UBERON_0001322 node EFO_0003130 HCC193 null http://www.ebi.ac.uk/efo/EFO_0003130 node NCBITaxon_12260 Bean pod mottle virus null http://purl.obolibrary.org/obo/NCBITaxon_12260 node EFO_0002181 GA10 null http://www.ebi.ac.uk/efo/EFO_0002181 node EFO_0001232 RKO null http://www.ebi.ac.uk/efo/EFO_0001232 node CHEBI_28940 calciol null http://purl.obolibrary.org/obo/CHEBI_28940 node EFO_0005196 vasoactive peptide measurement null http://www.ebi.ac.uk/efo/EFO_0005196 node Orphanet_79200 Disorder of energy metabolism null http://www.orpha.net/ORDO/Orphanet_79200 node Orphanet_228184 Heart-hand syndrome null http://www.orpha.net/ORDO/Orphanet_228184 node EFO_0002500 anaplastic oligoastrocytoma null http://www.ebi.ac.uk/efo/EFO_0002500 node EFO_0000789 obsolete_plant component null http://www.ebi.ac.uk/efo/EFO_0000789 node EFO_0000350 clear cell sarcoma of the kidney null http://www.ebi.ac.uk/efo/EFO_0000350 node NCBITaxon_13095 Hypophthalmichthys molitrix null http://purl.obolibrary.org/obo/NCBITaxon_13095 node Orphanet_1252 Blepharonasofacial malformation syndrome null http://www.orpha.net/ORDO/Orphanet_1252 node NCBITaxon_3311 Ginkgo biloba null http://purl.obolibrary.org/obo/NCBITaxon_3311 node EFO_0010567 spastic tetraplegia and axial hypotonia, progressive null http://www.ebi.ac.uk/efo/EFO_0010567 node EFO_0002082 obsolete_ssMCF7 null http://www.ebi.ac.uk/efo/EFO_0002082 node CL_0000499 stromal cell null http://purl.obolibrary.org/obo/CL_0000499 node EFO_0000090 CS57769 null http://www.ebi.ac.uk/efo/EFO_0000090 node Orphanet_3109 Mayer-Rokitansky-Küster-Hauser syndrome null http://www.orpha.net/ORDO/Orphanet_3109 node EFO_0006506 hepatic lipid content measurement null http://www.ebi.ac.uk/efo/EFO_0006506 node Orphanet_1135 Arrhinia - choanal atresia - microphthalmia null http://www.orpha.net/ORDO/Orphanet_1135 node EFO_0000029 CS57601 null http://www.ebi.ac.uk/efo/EFO_0000029 node EFO_0010655 megabladder, congenital null http://www.ebi.ac.uk/efo/EFO_0010655 node Orphanet_93325 Autosomal dominant Kenny-Caffey syndrome null http://www.orpha.net/ORDO/Orphanet_93325 node Orphanet_300373 Familial infantile gigantism null http://www.orpha.net/ORDO/Orphanet_300373 node UBERON_0006083 perirhinal cortex null http://purl.obolibrary.org/obo/UBERON_0006083 node HP_0007700 Ocular anterior segment dysgenesis In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures. http://purl.obolibrary.org/obo/HP_0007700 node EFO_0005801 cholesterol embolism null http://www.ebi.ac.uk/efo/EFO_0005801 node EFO_0010421 triacylglycerol 54:3 measurement null http://www.ebi.ac.uk/efo/EFO_0010421 node EFO_0001666 aortic aneurysm null http://www.ebi.ac.uk/efo/EFO_0001666 node CL_0000822 B-2 B cell B-2 B cells are reportedly CD48-positive, CD244-negative, and CD352-positive. http://purl.obolibrary.org/obo/CL_0000822 node UBERON_0010147 male accessory sex gland null http://purl.obolibrary.org/obo/UBERON_0010147 node UBERON_0010710 pectoral fin skeleton null http://purl.obolibrary.org/obo/UBERON_0010710 node UBERON_0000980 trochanter null http://purl.obolibrary.org/obo/UBERON_0000980 node Orphanet_309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome null http://www.orpha.net/ORDO/Orphanet_309854 node EFO_0010057 vascular cell adhesion molecule-1 measurement null http://www.ebi.ac.uk/efo/EFO_0010057 node EFO_0008283 serum amyloid P-component measurement null http://www.ebi.ac.uk/efo/EFO_0008283 node Orphanet_2363 Lacrimoauriculodentodigital syndrome null http://www.orpha.net/ORDO/Orphanet_2363 node EFO_0010538 taurocholate measurement null http://www.ebi.ac.uk/efo/EFO_0010538 node CL_0001002 mature CD8_alpha-negative CD11b-negative dendritic cell These markers are associated with mouse cells. Defined as having a disposition to secretion of anti-inflammatory cytokines. Originally described in the dendritic cell ontology (DC_CL:0000015)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001002 node EFO_0005228 plant population null http://www.ebi.ac.uk/efo/EFO_0005228 node CLO_0016645 GM17773 null http://purl.obolibrary.org/obo/CLO_0016645 node UBERON_0004264 lower leg skin null http://purl.obolibrary.org/obo/UBERON_0004264 node Orphanet_294016 Microcephaly-capillary malformation syndrome null http://www.orpha.net/ORDO/Orphanet_294016 node Orphanet_280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation null http://www.orpha.net/ORDO/Orphanet_280293 node Orphanet_1444 Ring chromosome 20 null http://www.orpha.net/ORDO/Orphanet_1444 node MONDO_0024496 tumor grade 2 or 3, general grading system null http://purl.obolibrary.org/obo/MONDO_0024496 node EFO_0001754 strain or line design null http://www.ebi.ac.uk/efo/EFO_0001754 node EFO_0008987 YAMAT-Seq null http://www.ebi.ac.uk/efo/EFO_0008987 node CL_0000910 cytotoxic T cell null http://purl.obolibrary.org/obo/CL_0000910 node EFO_0005702 A204.1 null http://www.ebi.ac.uk/efo/EFO_0005702 node EO_0007078 light quantity regimen null http://purl.obolibrary.org/obo/EO_0007078 node Orphanet_183539 Genetic renal or urinary tract malformation null http://www.orpha.net/ORDO/Orphanet_183539 node EFO_0010145 occipital lobe volume measurement null http://www.ebi.ac.uk/efo/EFO_0010145 node MONDO_0009741 neuroblastoma, susceptibility to null http://purl.obolibrary.org/obo/MONDO_0009741 node EFO_0008371 kidney amyloid deposition measurement null http://www.ebi.ac.uk/efo/EFO_0008371 node NCBITaxon_203908 Melampsora larici-populina null http://purl.obolibrary.org/obo/NCBITaxon_203908 node CL_0000043 mature basophil Mature basophils are also capable of producing IL-3, IL-5, IL-6, IL-8, IL-13, IL-25, CCL22, tslp, vegf, and LTC4. http://purl.obolibrary.org/obo/CL_0000043 node Orphanet_2749 Oromandibular-limb hypogenesis syndrome null http://www.orpha.net/ORDO/Orphanet_2749 node NCBITaxon_99822 Streptococcus dysgalactiae subsp. dysgalactiae null http://purl.obolibrary.org/obo/NCBITaxon_99822 node CHEBI_63631 topiramate null http://purl.obolibrary.org/obo/CHEBI_63631 node UBERON_0009853 body of uterus null http://purl.obolibrary.org/obo/UBERON_0009853 node Orphanet_79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type b Editor note: TODO decide whether to merge Ic http://www.orpha.net/ORDO/Orphanet_79259 node MONDO_0007319 familial calcium pyrophosphate deposition null http://purl.obolibrary.org/obo/MONDO_0007319 node EFO_0007504 syphilis A contagious venereal disease caused by the spirochete TREPONEMA PALLIDUM. http://www.ebi.ac.uk/efo/EFO_0007504 node EFO_0006662 NCI-H1734 null http://www.ebi.ac.uk/efo/EFO_0006662 node MONDO_0001369 chronic laryngitis null http://purl.obolibrary.org/obo/MONDO_0001369 node CHEBI_63925 latanoprost free acid null http://purl.obolibrary.org/obo/CHEBI_63925 node CHEBI_82986 3-carboxy-4-methyl-5-propyl-2-furanpropanoate null http://purl.obolibrary.org/obo/CHEBI_82986 node EFO_0002582 Theiler stage 11 null http://www.ebi.ac.uk/efo/EFO_0002582 node EFO_0009227 Oxyhemoglobin to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009227 node UBERON_0000924 ectoderm null http://purl.obolibrary.org/obo/UBERON_0000924 node Orphanet_93256 Fragile X-associated tremor/ataxia syndrome null http://www.orpha.net/ORDO/Orphanet_93256 node Orphanet_325511 46,XY disorder of sex development due to cholesterol synthesis defect null http://www.orpha.net/ORDO/Orphanet_325511 node EFO_0006329 response to citalopram null http://www.ebi.ac.uk/efo/EFO_0006329 node Orphanet_949 Acrocraniofacial dysostosis null http://www.orpha.net/ORDO/Orphanet_949 node Orphanet_98575 Telecanthus null http://www.orpha.net/ORDO/Orphanet_98575 node EFO_0009448 pulmonary fibrosis null http://www.ebi.ac.uk/efo/EFO_0009448 node Orphanet_79347 Chondrodysplasia punctata, Toriello type null http://www.orpha.net/ORDO/Orphanet_79347 node EFO_0009929 Beta blocking agent use measurement null http://www.ebi.ac.uk/efo/EFO_0009929 node EFO_0002183 GDM1 null http://www.ebi.ac.uk/efo/EFO_0002183 node EFO_0004540 chronic fatigue syndrome null http://www.ebi.ac.uk/efo/EFO_0004540 node EFO_1001365 Lymphoma, AIDS-Related null http://www.ebi.ac.uk/efo/EFO_1001365 node EO_0007049 soil environment null http://purl.obolibrary.org/obo/EO_0007049 node EFO_0000497 fibromatosis null http://www.ebi.ac.uk/efo/EFO_0000497 node EFO_0004868 volumetric brain MRI null http://www.ebi.ac.uk/efo/EFO_0004868 node EFO_1001178 shoulder impingement syndrome null http://www.ebi.ac.uk/efo/EFO_1001178 node EFO_0000978 obsolete_vulva null http://www.ebi.ac.uk/efo/EFO_0000978 node CL_0002439 NKGA2-positive natural killer cell, mouse null http://purl.obolibrary.org/obo/CL_0002439 node EFO_0009072 mbd5 associated neurodevelopmental disorder null http://www.ebi.ac.uk/efo/EFO_0009072 node UO_0000061 unit of molarity null http://purl.obolibrary.org/obo/UO_0000061 node BTO_0001436 mycelium null http://purl.obolibrary.org/obo/BTO_0001436 node Orphanet_79435 Oculocutaneous albinism type 4 null http://www.orpha.net/ORDO/Orphanet_79435 node EFO_0009536 blepharitis null http://www.ebi.ac.uk/efo/EFO_0009536 node EFO_0002271 NCI-H1975 null http://www.ebi.ac.uk/efo/EFO_0002271 node Orphanet_401764 Pancytopenia-developmental delay syndrome null http://www.orpha.net/ORDO/Orphanet_401764 node NCBITaxon_477815 Mus musculus musculus x M. m. domesticus null http://purl.obolibrary.org/obo/NCBITaxon_477815 node Orphanet_284289 Adult-onset autosomal recessive cerebellar ataxia null http://www.orpha.net/ORDO/Orphanet_284289 node MONDO_0014572 Lichtenstein-Knorr syndrome null http://purl.obolibrary.org/obo/MONDO_0014572 node MONDO_0022749 non-neoplastic nevus null http://purl.obolibrary.org/obo/MONDO_0022749 node GO_0009142 nucleoside triphosphate biosynthetic process null http://purl.obolibrary.org/obo/GO_0009142 node EFO_1001266 Aniseikonia null http://www.ebi.ac.uk/efo/EFO_1001266 node EFO_0008442 Smart-seq2 protocol null http://www.ebi.ac.uk/efo/EFO_0008442 node Orphanet_3196 Steroid dehydrogenase deficiency - dental anomalies null http://www.orpha.net/ORDO/Orphanet_3196 node EFO_0005696 D721Med null http://www.ebi.ac.uk/efo/EFO_0005696 node EFO_0004769 anti-Mullerian hormone measurement null http://www.ebi.ac.uk/efo/EFO_0004769 node NCBITaxon_9595 Gorilla gorilla gorilla null http://purl.obolibrary.org/obo/NCBITaxon_9595 node Orphanet_91413 Congenital Horner syndrome null http://www.orpha.net/ORDO/Orphanet_91413 node EFO_0009160 stromme syndrome null http://www.ebi.ac.uk/efo/EFO_0009160 node EFO_0009624 pulmonary alveolitis null http://www.ebi.ac.uk/efo/EFO_0009624 node MONDO_0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome null http://purl.obolibrary.org/obo/MONDO_0009359 node EFO_0007211 coccidioidomycosis null http://www.ebi.ac.uk/efo/EFO_0007211 node EFO_1001968 soft tissue sarcoma null http://www.ebi.ac.uk/efo/EFO_1001968 node CHEBI_35554 cardiovascular drug null http://purl.obolibrary.org/obo/CHEBI_35554 node MONDO_0018956 idiopathic bronchiectasis null http://purl.obolibrary.org/obo/MONDO_0018956 node HP_0002857 Genu valgum null http://purl.obolibrary.org/obo/HP_0002857 node CLO_0014367 GM17223 null http://purl.obolibrary.org/obo/CLO_0014367 node UBERON_0000033 head null http://purl.obolibrary.org/obo/UBERON_0000033 node Orphanet_83629 Leukoencephalopathy - metaphyseal chondrodysplasia null http://www.orpha.net/ORDO/Orphanet_83629 node EFO_0009381 fibroblast growth factor 23 measurement null http://www.ebi.ac.uk/efo/EFO_0009381 node PO_0007615 flower development stage This term and its sub-classes apply to an individual flower (PO:000904). During this stage, a flower undergoes the process of flower development (GO:0009908), defined as the process whose specific outcome is the progression of the flower over time, from its formation to the mature structure. For the development stage of a whole plant (PO:0000003), use whole plant flowering stage (PO:0007016). http://purl.obolibrary.org/obo/PO_0007615 node MONDO_0020850 intellectual disability, autosomal recessive 65 null http://purl.obolibrary.org/obo/MONDO_0020850 node GO_0036277 response to anticonvulsant null http://purl.obolibrary.org/obo/GO_0036277 node HP_0002243 Protein-losing enteropathy Affected individuals may present with peripheral edema, diarrhea with or without bleeding, abdominal pain, and/or weight loss. Protein-losing enteropathy is not a disease but is a manifestation of a number of gastrointestinal diseases and can be related to factors such as lymphatic obstruction, mucosal disease with erosions, ulcerations, or increased mucosal permeability to proteins. http://purl.obolibrary.org/obo/HP_0002243 node Orphanet_166311 Benign partial infantile seizures null http://www.orpha.net/ORDO/Orphanet_166311 node EFO_0010423 triacylglycerol 54:5 measurement null http://www.ebi.ac.uk/efo/EFO_0010423 node EFO_1001762 autonomic dysreflexia null http://www.ebi.ac.uk/efo/EFO_1001762 node UBERON_0002185 bronchus null http://purl.obolibrary.org/obo/UBERON_0002185 node CHEBI_15682 (N(omega)-L-arginino)succinic acid null http://purl.obolibrary.org/obo/CHEBI_15682 node MONDO_0033545 mitochondrial DNA depletion syndrome 19 null http://purl.obolibrary.org/obo/MONDO_0033545 node MONDO_0003110 skin hemangioma null http://purl.obolibrary.org/obo/MONDO_0003110 node MONDO_0044967 limb disorder null http://purl.obolibrary.org/obo/MONDO_0044967 node MONDO_0018563 adactyly of foot null http://purl.obolibrary.org/obo/MONDO_0018563 node EFO_0003038 obsolete_colon mucosa null http://www.ebi.ac.uk/efo/EFO_0003038 node EFO_1001412 Renal Colic null http://www.ebi.ac.uk/efo/EFO_1001412 node EFO_0003623 obsolete_chordo neural hinge null http://www.ebi.ac.uk/efo/EFO_0003623 node Orphanet_235 Dubowitz syndrome null http://www.orpha.net/ORDO/Orphanet_235 node EFO_0000041 CS57625 null http://www.ebi.ac.uk/efo/EFO_0000041 node EFO_1000414 Ovarian Dysgerminoma null http://www.ebi.ac.uk/efo/EFO_1000414 node EFO_0003436 obsolete_presumptive cephalic mesoderm null http://www.ebi.ac.uk/efo/EFO_0003436 node EFO_0002519 vegetative apex null http://www.ebi.ac.uk/efo/EFO_0002519 node CLO_0013936 GM17144 null http://purl.obolibrary.org/obo/CLO_0013936 node EFO_0004363 information processing speed null http://www.ebi.ac.uk/efo/EFO_0004363 node EFO_0010030 CRISPR-UMI null http://www.ebi.ac.uk/efo/EFO_0010030 node Orphanet_28378 Tyrosinemia type 2 null http://www.orpha.net/ORDO/Orphanet_28378 node EFO_0010511 niacinamide measurement null http://www.ebi.ac.uk/efo/EFO_0010511 node Orphanet_231230 Beta-thalassemia associated with another hemoglobin anomaly null http://www.orpha.net/ORDO/Orphanet_231230 node Orphanet_137608 Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus null http://www.orpha.net/ORDO/Orphanet_137608 node UBERON_0002110 gall bladder Rats do not have a gallbladder, but produce bile. The bile flows directly from the liver through the (hepatic) bile duct into the small intestine (Hebel and Stromberg, 1988) http://purl.obolibrary.org/obo/UBERON_0002110 node Orphanet_261584 Familial adenomatous polyposis due to 5q22.2 microdeletion null http://www.orpha.net/ORDO/Orphanet_261584 node EFO_1001500 mental retardation with language impairment null http://www.ebi.ac.uk/efo/EFO_1001500 node EFO_1000021 cecum carcinoma null http://www.ebi.ac.uk/efo/EFO_1000021 node EFO_0005198 transplant outcome measurement null http://www.ebi.ac.uk/efo/EFO_0005198 node Orphanet_183512 Rare genetic epilepsy null http://www.orpha.net/ORDO/Orphanet_183512 node EFO_0003524 obsolete_cephalic musculature null http://www.ebi.ac.uk/efo/EFO_0003524 node EFO_0004451 obsolete_Arabidopsis Growth Stage 6.30 null http://www.ebi.ac.uk/efo/EFO_0004451 node NCBITaxon_2209 Methanosarcina mazei null http://purl.obolibrary.org/obo/NCBITaxon_2209 node CLO_0031606 GM14532 null http://purl.obolibrary.org/obo/CLO_0031606 node Orphanet_226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function null http://www.orpha.net/ORDO/Orphanet_226307 node MONDO_0021204 chronic otitis media null http://purl.obolibrary.org/obo/MONDO_0021204 node CLO_0016501 GM17809 null http://purl.obolibrary.org/obo/CLO_0016501 node HP_0040083 Toe walking null http://purl.obolibrary.org/obo/HP_0040083 node Orphanet_357027 Familial retinoblastoma null http://www.orpha.net/ORDO/Orphanet_357027 node EFO_0006591 Hs 839.T null http://www.ebi.ac.uk/efo/EFO_0006591 node EFO_0007895 lutein measurement null http://www.ebi.ac.uk/efo/EFO_0007895 node EFO_0010820 spontaneous coronary artery dissection null http://www.ebi.ac.uk/efo/EFO_0010820 node EFO_0006897 airway responsiveness measurement null http://www.ebi.ac.uk/efo/EFO_0006897 node EFO_0005305 atrioventricular node disease null http://www.ebi.ac.uk/efo/EFO_0005305 node CHEBI_18292 jasmonic acid null http://purl.obolibrary.org/obo/CHEBI_18292 node EFO_0007049 gliadin seropositivity null http://www.ebi.ac.uk/efo/EFO_0007049 node NCBITaxon_5551 Trichophyton rubrum null http://purl.obolibrary.org/obo/NCBITaxon_5551 node CLO_0010557 GM08436 null http://purl.obolibrary.org/obo/CLO_0010557 node Orphanet_356978 D,L-2-hydroxyglutaric aciduria null http://www.orpha.net/ORDO/Orphanet_356978 node HP_0009722 Dental enamel pits null http://purl.obolibrary.org/obo/HP_0009722 node Orphanet_284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency null http://www.orpha.net/ORDO/Orphanet_284435 node MONDO_0000383 benign reproductive system neoplasm null http://purl.obolibrary.org/obo/MONDO_0000383 node HP_0008066 Abnormal blistering of the skin A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm. http://purl.obolibrary.org/obo/HP_0008066 node EFO_0006363 C170 null http://www.ebi.ac.uk/efo/EFO_0006363 node Orphanet_90390 Anonychia - onychodystrophy null http://www.orpha.net/ORDO/Orphanet_90390 node EFO_1000308 Jejunal Neuroendocrine Tumor G1 null http://www.ebi.ac.uk/efo/EFO_1000308 node CHEBI_133728 3,7-dimethylurate anion null http://purl.obolibrary.org/obo/CHEBI_133728 node HP_0012259 Absent inner and outer dynein arms null http://purl.obolibrary.org/obo/HP_0012259 node EFO_0009941 Inhalant adrenergic use measurement null http://www.ebi.ac.uk/efo/EFO_0009941 node Orphanet_85173 IMAGe syndrome null http://www.orpha.net/ORDO/Orphanet_85173 node EFO_0004048 CB185 null http://www.ebi.ac.uk/efo/EFO_0004048 node MONDO_0021073 paraneoplastic syndrome null http://purl.obolibrary.org/obo/MONDO_0021073 node EFO_0009788 encounter with health service related to socioeconomic and psychosocial circumstances null http://www.ebi.ac.uk/efo/EFO_0009788 node MONDO_0024318 viral infection of central nervous system null http://purl.obolibrary.org/obo/MONDO_0024318 node CL_0002026 CD34-negative, CD41-positive, CD42-positive megakaryocyte cell Markers are commonly associated with human cells. http://purl.obolibrary.org/obo/CL_0002026 node EFO_0007358 Marburg hemorrhagic fever null http://www.ebi.ac.uk/efo/EFO_0007358 node CHEBI_16010 5-oxoproline null http://purl.obolibrary.org/obo/CHEBI_16010 node EFO_0005000 leptin measurement null http://www.ebi.ac.uk/efo/EFO_0005000 node Orphanet_98196 Malformation syndrome with hamartosis null http://www.orpha.net/ORDO/Orphanet_98196 node EFO_0007400 oesophagostomiasis null http://www.ebi.ac.uk/efo/EFO_0007400 node EFO_0006451 M059K null http://www.ebi.ac.uk/efo/EFO_0006451 node CL_0002247 pleural macrophage null http://purl.obolibrary.org/obo/CL_0002247 node Orphanet_401854 Lipoic acid biosynthesis defect null http://www.orpha.net/ORDO/Orphanet_401854 node CL_0000349 extraembryonic cell null http://purl.obolibrary.org/obo/CL_0000349 node MONDO_0003274 thoracic cancer null http://purl.obolibrary.org/obo/MONDO_0003274 node MONDO_0003755 urinary tract non-invasive transitional cell neoplasm null http://purl.obolibrary.org/obo/MONDO_0003755 node EFO_0009876 abnormal lipolysis null http://www.ebi.ac.uk/efo/EFO_0009876 node EFO_0002999 ILSXISS94/TejJ null http://www.ebi.ac.uk/efo/EFO_0002999 node EFO_1000819 arteriolosclerosis null http://www.ebi.ac.uk/efo/EFO_1000819 node EFO_0007446 pleural tuberculosis null http://www.ebi.ac.uk/efo/EFO_0007446 node MONDO_0003578 extragonadal nonseminomatous germ cell tumor null http://purl.obolibrary.org/obo/MONDO_0003578 node Orphanet_268943 Unilateral polymicrogyria null http://www.orpha.net/ORDO/Orphanet_268943 node EFO_0002836 MS-1 null http://www.ebi.ac.uk/efo/EFO_0002836 node EFO_0008232 methionine aminopeptidase 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008232 node NCBITaxon_13689 Sphingomonas paucimobilis null http://purl.obolibrary.org/obo/NCBITaxon_13689 node MONDO_0013324 lymphedema-posterior choanal atresia syndrome null http://purl.obolibrary.org/obo/MONDO_0013324 node Orphanet_3052 X-linked intellectual disability - seizures - psoriasis null http://www.orpha.net/ORDO/Orphanet_3052 node HP_0003445 EMG: neuropathic changes This is a bundled term. It is preferable to annotate the precise clinical observations, but the term is kept now for convenience. http://purl.obolibrary.org/obo/HP_0003445 node NCBITaxon_37099 Isochrysis galbana null http://purl.obolibrary.org/obo/NCBITaxon_37099 node Orphanet_3460 Torg-Winchester syndrome null http://www.orpha.net/ORDO/Orphanet_3460 node EFO_0008936 SMORE-Seq null http://www.ebi.ac.uk/efo/EFO_0008936 node CHEBI_27698 Vanadium null http://purl.obolibrary.org/obo/CHEBI_27698 node HP_0001871 Abnormality of blood and blood-forming tissues The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes. http://purl.obolibrary.org/obo/HP_0001871 node EFO_0002443 obsolete_oocyte null http://www.ebi.ac.uk/efo/EFO_0002443 node EFO_0002924 HapMap haplotype mapping null http://www.ebi.ac.uk/efo/EFO_0002924 node EFO_0008320 white matter volume measurement null http://www.ebi.ac.uk/efo/EFO_0008320 node EFO_0004166 Illumina native fastq format null http://www.ebi.ac.uk/efo/EFO_0004166 node EFO_0000276 obsolete_atrioventricular node null http://www.ebi.ac.uk/efo/EFO_0000276 node CHEBI_33287 fertilizer null http://purl.obolibrary.org/obo/CHEBI_33287 node EFO_0000861 obsolete_thyroid null http://www.ebi.ac.uk/efo/EFO_0000861 node EFO_0008133 fibronectin measurement null http://www.ebi.ac.uk/efo/EFO_0008133 node CL_0002218 immature dendritic epithelial T cell precursor NOTE: currently variable immune gene segments are not represented in the OBO Foundry. Cross-product definitions were not made as a result. Also, there are three different nomenclatures for the variable gamma segments. http://purl.obolibrary.org/obo/CL_0002218 node EFO_0002185 HCC1395 null http://www.ebi.ac.uk/efo/EFO_0002185 node EFO_0001258 UACC812 null http://www.ebi.ac.uk/efo/EFO_0001258 node EFO_0000674 obsolete_protocol Merged plan specification and protocol and made synonymous hence this class is redundant. http://www.ebi.ac.uk/efo/EFO_0000674 node Orphanet_88637 Hypomyelination - hypogonadotropic hypogonadism - hypodontia null http://www.orpha.net/ORDO/Orphanet_88637 node Orphanet_3361 Trichodysplasia - xeroderma null http://www.orpha.net/ORDO/Orphanet_3361 node Orphanet_629 Short stature due to growth hormone qualitative anomaly null http://www.orpha.net/ORDO/Orphanet_629 node EFO_0008837 OK-Seq null http://www.ebi.ac.uk/efo/EFO_0008837 node EFO_0000839 obsolete_tooth null http://www.ebi.ac.uk/efo/EFO_0000839 node Orphanet_314399 Autosomal dominant aplasia and myelodysplasia null http://www.orpha.net/ORDO/Orphanet_314399 node NCBITaxon_378006 Arabidopsis arenosa x Arabidopsis thaliana null http://purl.obolibrary.org/obo/NCBITaxon_378006 node UBERON_2000599 torus semicircularis null http://purl.obolibrary.org/obo/UBERON_2000599 node EFO_0004067 SB146 null http://www.ebi.ac.uk/efo/EFO_0004067 node EFO_0002273 NCI-H2009 null http://www.ebi.ac.uk/efo/EFO_0002273 node EFO_0001346 Syracuse High Avoidance null http://www.ebi.ac.uk/efo/EFO_0001346 node NCBITaxon_41759 Aspergillus multicolor null http://purl.obolibrary.org/obo/NCBITaxon_41759 node Orphanet_166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly null http://www.orpha.net/ORDO/Orphanet_166002 node EFO_0000762 hepatocellular adenoma null http://www.ebi.ac.uk/efo/EFO_0000762 node NCBITaxon_3818 Arachis hypogaea null http://purl.obolibrary.org/obo/NCBITaxon_3818 node EFO_0001169 HCC1143 null http://www.ebi.ac.uk/efo/EFO_0001169 node Orphanet_397612 Macrocephaly-developmental delay syndrome null http://www.orpha.net/ORDO/Orphanet_397612 node Orphanet_93592 Juvenile nephronophthisis null http://www.orpha.net/ORDO/Orphanet_93592 node GO_0009144 purine nucleoside triphosphate metabolic process null http://purl.obolibrary.org/obo/GO_0009144 node EFO_1000975 hypersplenism null http://www.ebi.ac.uk/efo/EFO_1000975 node EFO_0008444 Drop-seq sequencing protocol null http://www.ebi.ac.uk/efo/EFO_0008444 node EFO_0000446 obsolete_embryonic central brain surface glia null http://www.ebi.ac.uk/efo/EFO_0000446 node MONDO_0002146 hypogonadism null http://purl.obolibrary.org/obo/MONDO_0002146 node EFO_0000927 obsolete_pronephros null http://www.ebi.ac.uk/efo/EFO_0000927 node EFO_1001127 primary Haemophilus infectious disease null http://www.ebi.ac.uk/efo/EFO_1001127 node CLO_0015085 GM17130 null http://purl.obolibrary.org/obo/CLO_0015085 node MONDO_0020068 postinfectious encephalitis null http://purl.obolibrary.org/obo/MONDO_0020068 node EFO_0005557 gum cancer null http://www.ebi.ac.uk/efo/EFO_0005557 node Orphanet_363969 Autosomal recessive cerebral atrophy null http://www.orpha.net/ORDO/Orphanet_363969 node EFO_0003127 HCC1159 null http://www.ebi.ac.uk/efo/EFO_0003127 node CHEBI_21557 N-acetyl-L-methionine null http://purl.obolibrary.org/obo/CHEBI_21557 node EFO_0002361 SW1417 null http://www.ebi.ac.uk/efo/EFO_0002361 node Orphanet_319332 Autosomal recessive myogenic arthrogryposis multiplex congenita null http://www.orpha.net/ORDO/Orphanet_319332 node CHEBI_3090 bicalutamide null http://purl.obolibrary.org/obo/CHEBI_3090 node EFO_1001829 Posterior Leukoencephalopathy Syndrome null http://www.ebi.ac.uk/efo/EFO_1001829 node EFO_0010049 asthma symptoms measurement null http://www.ebi.ac.uk/efo/EFO_0010049 node MONDO_0020289 congenital tricuspid malformation null http://purl.obolibrary.org/obo/MONDO_0020289 node NCBITaxon_40410 Cryptococcus neoformans var. neoformans null http://purl.obolibrary.org/obo/NCBITaxon_40410 node HP_0200037 Skin vesicle null http://purl.obolibrary.org/obo/HP_0200037 node EFO_0000534 hydrostatic pressure null http://www.ebi.ac.uk/efo/EFO_0000534 node EFO_1001215 obsolete_tooth ankylosis null http://www.ebi.ac.uk/efo/EFO_1001215 node Orphanet_1436 Skeletal dysplasia - intellectual disability null http://www.orpha.net/ORDO/Orphanet_1436 node CHEBI_78060 docosahexaenoate null http://purl.obolibrary.org/obo/CHEBI_78060 node EFO_0000347 classifier prediction null http://www.ebi.ac.uk/efo/EFO_0000347 node EFO_0005645 ATC Code R Respiratory system R RESPIRATORY SYSTEM Inhaled antiinfectives are classified in ATC group J - Antiinfectives for systemic use. R01 NASAL PREPARATIONS R02 THROAT PREPARATIONS R03 DRUGS FOR OBSTRUCTIVE AIRWAY DISEASES R05 COUGH AND COLD PREPARATIONS This group comprises a large number of preparations, most of which are combined preparations. Cold preparations containing therapeutic levels of antiinfectives should be classified in ATC group J - Antiinfectives for systemic use. Cold preparations with therapeutic levels of analgesics/anti-inflammatory agents should be classified in the respective N02/M01 groups, at separate 5th levels by using the 50-series. Cold preparations with both antiinfectives and analgesics should be classified in ATC group J - Antiinfectives for systemic use. Cold preparations with minimal amounts of antiinfectives or analgesics are classified in R05X - Other cold preparations. See also R01 - Nasal preparations, R02 - Throat preparations, and R03D - Other systemic drugs for obstructive airway diseases. Fixed DDDs are assigned for combinations. These DDDs are based on an average dose regimen of three times daily, and dosages in the upper area of the recommended dose ranges are chosen. The strengths of the various components are not taken into consideration. E.g. 6 UD (= 30 ml) is the fixed DDD for products where the recommended dose is 5-10 ml. R06 ANTIHISTAMINES FOR SYSTEMIC USE R07 OTHER RESPIRATORY SYSTEM PRODUCTS http://www.ebi.ac.uk/efo/EFO_0005645 node EFO_0004718 vascular dementia null http://www.ebi.ac.uk/efo/EFO_0004718 node EFO_1001028 macular holes null http://www.ebi.ac.uk/efo/EFO_1001028 node Orphanet_1834 Axial mesodermal dysplasia spectrum null http://www.orpha.net/ORDO/Orphanet_1834 node UBERON_0003040 central gray substance of midbrain null http://purl.obolibrary.org/obo/UBERON_0003040 node MONDO_0024886 serous adenofibroma null http://purl.obolibrary.org/obo/MONDO_0024886 node HP_0011079 Impacted tooth null http://purl.obolibrary.org/obo/HP_0011079 node EFO_0007950 GM23338 null http://www.ebi.ac.uk/efo/EFO_0007950 node Orphanet_329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_329942 node Orphanet_1657 Dermatoosteolysis, Kirghizian type null http://www.orpha.net/ORDO/Orphanet_1657 node EFO_1001917 social anxiety disorder null http://www.ebi.ac.uk/efo/EFO_1001917 node UBERON_2000425 anterior lateral line nerve null http://purl.obolibrary.org/obo/UBERON_2000425 node PO_0030014 gametophyte meristematic apical cell Occurs bryophytes and pteridophytes. http://purl.obolibrary.org/obo/PO_0030014 node EFO_0010358 lysophosphatidylcholine 16:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010358 node GO_0097338 response to clozapine null http://purl.obolibrary.org/obo/GO_0097338 node PATO_0001561 having extra processual parts null http://purl.obolibrary.org/obo/PATO_0001561 node Orphanet_1717 Distal trisomy 19q null http://www.orpha.net/ORDO/Orphanet_1717 node MONDO_0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy null http://purl.obolibrary.org/obo/MONDO_0032894 node Orphanet_98954 Meesmann corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98954 node CLO_0014404 ND02579 null http://purl.obolibrary.org/obo/CLO_0014404 node NCBITaxon_48416 Zoarces viviparus null http://purl.obolibrary.org/obo/NCBITaxon_48416 node EFO_0007698 GBA carrier status null http://www.ebi.ac.uk/efo/EFO_0007698 node Orphanet_352596 Progressive myoclonic epilepsy with dystonia null http://www.orpha.net/ORDO/Orphanet_352596 node Orphanet_2722 Odonto-onycho dysplasia - alopecia null http://www.orpha.net/ORDO/Orphanet_2722 node EFO_0004312 vital capacity null http://www.ebi.ac.uk/efo/EFO_0004312 node Orphanet_90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency null http://www.orpha.net/ORDO/Orphanet_90795 node MONDO_0021206 chronic non-suppurative otitis media null http://purl.obolibrary.org/obo/MONDO_0021206 node CL_0002103 IgG-positive double negative memory B cell null http://purl.obolibrary.org/obo/CL_0002103 node EFO_0005080 CC16 measurement null http://www.ebi.ac.uk/efo/EFO_0005080 node UBERON_0001898 hypothalamus null http://purl.obolibrary.org/obo/UBERON_0001898 node EFO_0009479 throat disease null http://www.ebi.ac.uk/efo/EFO_0009479 node EFO_0002855 SBC-5 null http://www.ebi.ac.uk/efo/EFO_0002855 node NCBITaxon_196620 Staphylococcus aureus subsp. aureus MW2 null http://purl.obolibrary.org/obo/NCBITaxon_196620 node EFO_0006758 SNU-638 null http://www.ebi.ac.uk/efo/EFO_0006758 node EFO_0007805 HDL cholesterol change measurement null http://www.ebi.ac.uk/efo/EFO_0007805 node EFO_0004400 Theiler stage 8 null http://www.ebi.ac.uk/efo/EFO_0004400 node HP_0012424 Chorioretinitis Chorioretinitis is a form of posterior uveitis. Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina. http://purl.obolibrary.org/obo/HP_0012424 node Orphanet_2623 Geleophysic dysplasia null http://www.orpha.net/ORDO/Orphanet_2623 node Orphanet_240112 Progressive supranuclear palsy - progressive non fluent aphasia null http://www.orpha.net/ORDO/Orphanet_240112 node HP_0000535 Sparse and thin eyebrow Sparseness can be regional (medial, central, lateral) or total. These modifiers should be incorporated into the term, when appropriate. http://purl.obolibrary.org/obo/HP_0000535 node EFO_0004213 otosclerosis null http://www.ebi.ac.uk/efo/EFO_0004213 node CHEBI_46859 polidocanol null http://purl.obolibrary.org/obo/CHEBI_46859 node HP_0007367 Atrophy/Degeneration affecting the central nervous system null http://purl.obolibrary.org/obo/HP_0007367 node Orphanet_98689 Myopathy with eye involvement null http://www.orpha.net/ORDO/Orphanet_98689 node Orphanet_208444 Bilateral frontal polymicrogyria null http://www.orpha.net/ORDO/Orphanet_208444 node EFO_0009567 Spirochaetales Infections null http://www.ebi.ac.uk/efo/EFO_0009567 node EFO_0006365 C4-2B null http://www.ebi.ac.uk/efo/EFO_0006365 node EFO_0003870 brain aneurysm null http://www.ebi.ac.uk/efo/EFO_0003870 node EFO_0002943 transcription profiling by RT-PCR null http://www.ebi.ac.uk/efo/EFO_0002943 node CHEBI_32902 gibberellin A4 null http://purl.obolibrary.org/obo/CHEBI_32902 node EFO_0006846 autoimmune disease biomarker null http://www.ebi.ac.uk/efo/EFO_0006846 node EFO_0006659 NCI-H146 null http://www.ebi.ac.uk/efo/EFO_0006659 node NCBITaxon_37657 Silene latifolia null http://purl.obolibrary.org/obo/NCBITaxon_37657 node Orphanet_99952 Charcot-Marie-Tooth disease type 4F null http://www.orpha.net/ORDO/Orphanet_99952 node EFO_0006453 MCAS null http://www.ebi.ac.uk/efo/EFO_0006453 node CHEBI_33364 platinum null http://purl.obolibrary.org/obo/CHEBI_33364 node EFO_1001999 systemic juvenile idiopathic arthritis null http://www.ebi.ac.uk/efo/EFO_1001999 node EFO_0009091 sample dissociation null http://www.ebi.ac.uk/efo/EFO_0009091 node EFO_0008645 3-Seq null http://www.ebi.ac.uk/efo/EFO_0008645 node EFO_0006266 sum of skinfolds null http://www.ebi.ac.uk/efo/EFO_0006266 node NCBITaxon_3993 Euphorbia esula null http://purl.obolibrary.org/obo/NCBITaxon_3993 node MONDO_0020937 contractures, pterygia, and variable skeletal fusions syndrome null http://purl.obolibrary.org/obo/MONDO_0020937 node MONDO_0009332 congenital hematological disorder null http://purl.obolibrary.org/obo/MONDO_0009332 node EFO_0003379 obsolete_rectum primordium null http://www.ebi.ac.uk/efo/EFO_0003379 node UBERON_0007277 presumptive hindbrain null http://purl.obolibrary.org/obo/UBERON_0007277 node Orphanet_791 Retinitis pigmentosa null http://www.orpha.net/ORDO/Orphanet_791 node Orphanet_247585 Citrullinemia type II null http://www.orpha.net/ORDO/Orphanet_247585 node NCBITaxon_1247 Oenococcus oeni null http://purl.obolibrary.org/obo/NCBITaxon_1247 node HP_0000932 Abnormal posterior cranial fossa morphology The floor of the cranial cavity is divided into three distinct depressions called the anterior, middle, and posterior cranial fossa. The posterior cranial fossa, the most posterior and deep of the three cranial fossae, accommodates the brainstem and cerebellum. Abnormalities of the posterier cranial fossa can be demonstrated by cerebral magnetic resonance imaging or computer tomography. http://purl.obolibrary.org/obo/HP_0000932 node EFO_0008234 MHC class I polypeptide-related sequence B measurement null http://www.ebi.ac.uk/efo/EFO_0008234 node EFO_0009069 hepatic methionine adenosyltransferase deficiency null http://www.ebi.ac.uk/efo/EFO_0009069 node MONDO_0060779 acquired Fanconi syndrome null http://purl.obolibrary.org/obo/MONDO_0060779 node HP_0006986 Upper limb spasticity null http://purl.obolibrary.org/obo/HP_0006986 node EFO_0008047 C-C motif chemokine 19 measurement null http://www.ebi.ac.uk/efo/EFO_0008047 node MONDO_0004565 intestinal obstruction null http://purl.obolibrary.org/obo/MONDO_0004565 node Orphanet_221046 Poikiloderma with neutropenia null http://www.orpha.net/ORDO/Orphanet_221046 node EFO_0008528 urothelial carcinoma Transitional cell carcinoma,also urothelial carcinoma, is a type of cancer that typically occurs in the urinary system. It is the most common type of bladder cancer and cancer of the ureter, urethra, and urachus. http://www.ebi.ac.uk/efo/EFO_0008528 node EFO_0003467 obsolete_presumptive mesoderm null http://www.ebi.ac.uk/efo/EFO_0003467 node FBbt_00000447 posterior endoderm anlage null http://purl.obolibrary.org/obo/FBbt_00000447 node Orphanet_93973 Carpenter-Waziri syndrome null http://www.orpha.net/ORDO/Orphanet_93973 node Orphanet_91495 Persistent hyperplastic primary vitreous null http://www.orpha.net/ORDO/Orphanet_91495 node EFO_1000185 Colon Juvenile Polyp null http://www.ebi.ac.uk/efo/EFO_1000185 node EFO_0009157 susceptibility to malaria null http://www.ebi.ac.uk/efo/EFO_0009157 node NCBITaxon_1148 Synechocystis sp. PCC 6803 null http://purl.obolibrary.org/obo/NCBITaxon_1148 node EFO_1000666 acrokeratosis verruciformis null http://www.ebi.ac.uk/efo/EFO_1000666 node EFO_0008135 ficolin-2 measurement null http://www.ebi.ac.uk/efo/EFO_0008135 node EFO_0008616 Complex Cyst of Kidney null http://www.ebi.ac.uk/efo/EFO_0008616 node MONDO_0016678 maternal disease-related embryofetopathy null http://purl.obolibrary.org/obo/MONDO_0016678 node EFO_0010763 axin-1 measurement null http://www.ebi.ac.uk/efo/EFO_0010763 node CHEBI_48218 antiseptic drug null http://purl.obolibrary.org/obo/CHEBI_48218 node Orphanet_349 Fucosidosis null http://www.orpha.net/ORDO/Orphanet_349 node EFO_0003555 obsolete_horizontal myoseptum null http://www.ebi.ac.uk/efo/EFO_0003555 node HP_0011098 Speech apraxia Speech apraxia may co-occur with oral apraxia and limb apraxia. http://purl.obolibrary.org/obo/HP_0011098 node CHEBI_134112 triacylglycerol 60:12 null http://purl.obolibrary.org/obo/CHEBI_134112 node MONDO_0013220 hemochromatosis type 2B null http://purl.obolibrary.org/obo/MONDO_0013220 node EFO_1000450 Papillary Transitional Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000450 node Orphanet_1513 Craniodiaphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_1513 node EFO_1000273 Gastric Metaplasia null http://www.ebi.ac.uk/efo/EFO_1000273 node EFO_0004880 urinary arsenic measurement null http://www.ebi.ac.uk/efo/EFO_0004880 node BTO_0000305 crypt null http://purl.obolibrary.org/obo/BTO_0000305 node EFO_0005722 SJCRH30 null http://www.ebi.ac.uk/efo/EFO_0005722 node Orphanet_73 Gorham-Stout disease null http://www.orpha.net/ORDO/Orphanet_73 node EFO_1000754 physical urticaria Editor note: use ECTO to axiomatize http://www.ebi.ac.uk/efo/EFO_1000754 node HP_0011343 Moderate global developmental delay null http://purl.obolibrary.org/obo/HP_0011343 node EFO_0003776 coronary artery bypass null http://www.ebi.ac.uk/efo/EFO_0003776 node Orphanet_363444 Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type null http://www.orpha.net/ORDO/Orphanet_363444 node EFO_0010370 lysophosphatidylethanolamine 20:4 measurement null http://www.ebi.ac.uk/efo/EFO_0010370 node EFO_0010851 HG02852 null http://www.ebi.ac.uk/efo/EFO_0010851 node MONDO_0020641 respiratory tract neoplasm null http://purl.obolibrary.org/obo/MONDO_0020641 node EFO_1000567 Testicular Granulosa Cell Tumor null http://www.ebi.ac.uk/efo/EFO_1000567 node EFO_0010214 single cell isolation protocol null http://www.ebi.ac.uk/efo/EFO_0010214 node EFO_0002134 CMLT1 null http://www.ebi.ac.uk/efo/EFO_0002134 node EFO_0001207 obsolete_MDAMB-157 null http://www.ebi.ac.uk/efo/EFO_0001207 node EFO_0000038 CS57621 null http://www.ebi.ac.uk/efo/EFO_0000038 node MONDO_0004944 neurosyphilis null http://purl.obolibrary.org/obo/MONDO_0004944 node EFO_0005336 GM10847 null http://www.ebi.ac.uk/efo/EFO_0005336 node EFO_0005149 Col-1 null http://www.ebi.ac.uk/efo/EFO_0005149 node Orphanet_137867 Madras motor neuron disease null http://www.orpha.net/ORDO/Orphanet_137867 node CLO_0016566 GM17746 null http://purl.obolibrary.org/obo/CLO_0016566 node CLO_0015087 GM17131 null http://purl.obolibrary.org/obo/CLO_0015087 node MONDO_0054764 neurodegeneration with brain iron accumulation 8 null http://purl.obolibrary.org/obo/MONDO_0054764 node NCBITaxon_194 Campylobacter null http://purl.obolibrary.org/obo/NCBITaxon_194 node CHEBI_15767 dichloromethane null http://purl.obolibrary.org/obo/CHEBI_15767 node EFO_1000361 Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation null http://www.ebi.ac.uk/efo/EFO_1000361 node MONDO_0021657 ovarian sex cord-stromal tumor null http://purl.obolibrary.org/obo/MONDO_0021657 node UBERON_0003059 presomitic mesoderm null http://purl.obolibrary.org/obo/UBERON_0003059 node HP_0006530 Abnormal pulmonary Interstitial morphology null http://purl.obolibrary.org/obo/HP_0006530 node EFO_0010916 interleukin-27 measurement null http://www.ebi.ac.uk/efo/EFO_0010916 node UBERON_0002107 liver null http://purl.obolibrary.org/obo/UBERON_0002107 node CLO_0021943 AG09877 null http://purl.obolibrary.org/obo/CLO_0021943 node CL_0000814 mature NK T cell null http://purl.obolibrary.org/obo/CL_0000814 node FBbt_00001761 imaginal disc null http://purl.obolibrary.org/obo/FBbt_00001761 node CLO_0014025 GM17172 null http://purl.obolibrary.org/obo/CLO_0014025 node MONDO_0021065 pleural neoplasm null http://purl.obolibrary.org/obo/MONDO_0021065 node EFO_0002222 KU812 null http://www.ebi.ac.uk/efo/EFO_0002222 node EFO_0000126 CS57812 null http://www.ebi.ac.uk/efo/EFO_0000126 node Orphanet_399391 Osteochondrosis of genetic origin null http://www.orpha.net/ORDO/Orphanet_399391 node Orphanet_1028 Amelo-onycho-hypohidrotic syndrome null http://www.orpha.net/ORDO/Orphanet_1028 node EFO_0001118 GM11830 null http://www.ebi.ac.uk/efo/EFO_0001118 node EFO_0002035 murine neuroblastoma cholinergic cell line null http://www.ebi.ac.uk/efo/EFO_0002035 node MONDO_0021463 benign neoplasm of parathyroid gland null http://purl.obolibrary.org/obo/MONDO_0021463 node EFO_0005237 U-87 MG null http://www.ebi.ac.uk/efo/EFO_0005237 node Orphanet_183509 Rare genetic headache null http://www.orpha.net/ORDO/Orphanet_183509 node MONDO_0018812 MSH3-related attenuated familial adenomatous polyposis null http://purl.obolibrary.org/obo/MONDO_0018812 node Orphanet_44 Neonatal adrenoleukodystrophy null http://www.orpha.net/ORDO/Orphanet_44 node CL_0000421 coelomocyte null http://purl.obolibrary.org/obo/CL_0000421 node CHEBI_2704 anastrozole null http://purl.obolibrary.org/obo/CHEBI_2704 node EFO_0007389 myiasis null http://www.ebi.ac.uk/efo/EFO_0007389 node ZFA_0000003 adaxial cells null http://purl.obolibrary.org/obo/ZFA_0000003 node CHEBI_28971 ampicillin null http://purl.obolibrary.org/obo/CHEBI_28971 node PATO_0001340 hermaphrodite null http://purl.obolibrary.org/obo/PATO_0001340 node CHEBI_50750 topoisomerase II inhibitor null http://purl.obolibrary.org/obo/CHEBI_50750 node GO_2000292 regulation of defecation null http://purl.obolibrary.org/obo/GO_2000292 node CHEBI_17925 alpha-D-glucose null http://purl.obolibrary.org/obo/CHEBI_17925 node EFO_0006455 MN9D null http://www.ebi.ac.uk/efo/EFO_0006455 node EFO_0003072 SK-N-SH null http://www.ebi.ac.uk/efo/EFO_0003072 node CL_0000101 sensory neuron null http://purl.obolibrary.org/obo/CL_0000101 node Orphanet_309127 3-hydroxyacyl-CoA dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_309127 node MONDO_0021169 epithelioid hemangioma null http://purl.obolibrary.org/obo/MONDO_0021169 node GO_0012507 ER to Golgi transport vesicle membrane null http://purl.obolibrary.org/obo/GO_0012507 node NCBITaxon_6339 Heligmosomoides polygyrus null http://purl.obolibrary.org/obo/NCBITaxon_6339 node MONDO_0012287 Stickler syndrome, type I, nonsyndromic ocular Editor note: check this http://purl.obolibrary.org/obo/MONDO_0012287 node CHEBI_36110 pipecolate null http://purl.obolibrary.org/obo/CHEBI_36110 node CHEBI_4034 cyfluthrin null http://purl.obolibrary.org/obo/CHEBI_4034 node Orphanet_263676 Hereditary epidermolysis bullosa associated with ocular features null http://www.orpha.net/ORDO/Orphanet_263676 node UBERON_0000933 pharyngeal muscle Innervation notes: They are innervated by the pharyngeal branch of the Vagus nerve (CN X) with the exception of the stylopharyngeus muscle which is innervated by the glossopharyngeal nerve (CN IX).[WP] http://purl.obolibrary.org/obo/UBERON_0000933 node Orphanet_77293 Niemann-Pick disease type B null http://www.orpha.net/ORDO/Orphanet_77293 node Orphanet_3265 Humero-radial synostosis null http://www.orpha.net/ORDO/Orphanet_3265 node Orphanet_66633 Sensorineural hearing loss - early graying - essential tremor null http://www.orpha.net/ORDO/Orphanet_66633 node UBERON_0007250 lingual tonsil null http://purl.obolibrary.org/obo/UBERON_0007250 node EFO_0006923 fertility measurement null http://www.ebi.ac.uk/efo/EFO_0006923 node Orphanet_309028 Disorder of lipid absorption and transport null http://www.orpha.net/ORDO/Orphanet_309028 node MONDO_0003869 childhood brain stem glioma null http://purl.obolibrary.org/obo/MONDO_0003869 node Orphanet_243343 Dimethylglycine dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_243343 node EFO_0009450 conjunctivitis null http://www.ebi.ac.uk/efo/EFO_0009450 node EFO_0008501 dysplasia Dysplasia is a term used in pathology to refer to an abnormality of development or an epithelial anomaly of growth and differentiation (epithelial dysplasia). http://www.ebi.ac.uk/efo/EFO_0008501 node Orphanet_2213 Hypertelorism-microtia-facial clefting syndrome null http://www.orpha.net/ORDO/Orphanet_2213 node CHEBI_72689 O-oleoylcarnitine null http://purl.obolibrary.org/obo/CHEBI_72689 node Orphanet_3353 Trichodermodysplasia - dental alterations null http://www.orpha.net/ORDO/Orphanet_3353 node EFO_0001979 obsolete_plantaris muscle null http://www.ebi.ac.uk/efo/EFO_0001979 node EFO_0009732 enthesitis-related juvenile idiopathic arthritis null http://www.ebi.ac.uk/efo/EFO_0009732 node Orphanet_209908 Childhood apraxia of speech null http://www.orpha.net/ORDO/Orphanet_209908 node EFO_0001289 cleavage 8-cell null http://www.ebi.ac.uk/efo/EFO_0001289 node Orphanet_3166 Sialuria null http://www.orpha.net/ORDO/Orphanet_3166 node Orphanet_140436 Primary intraosseous vascular malformation null http://www.orpha.net/ORDO/Orphanet_140436 node EFO_0010694 total parenteral nutrition null http://www.ebi.ac.uk/efo/EFO_0010694 node MONDO_0024488 tumor grading characteristic null http://purl.obolibrary.org/obo/MONDO_0024488 node MONDO_0002917 disease of pilosebaceous unit null http://purl.obolibrary.org/obo/MONDO_0002917 node HP_0001967 Diffuse mesangial sclerosis This finding can be demonstrated by renal biopsy. http://purl.obolibrary.org/obo/HP_0001967 node EFO_0008491 atypical ductal hyperplasia Atypical ductal hyperplasia is the term used for a benign lesion of the breast that indicates an increased risk of breast cancer. http://www.ebi.ac.uk/efo/EFO_0008491 node Orphanet_96100 Distal trisomy 8q null http://www.orpha.net/ORDO/Orphanet_96100 node EFO_0007004 progesterone measurement null http://www.ebi.ac.uk/efo/EFO_0007004 node CHEBI_24785 iminodiacetate null http://purl.obolibrary.org/obo/CHEBI_24785 node HP_0002091 Restrictive ventilatory defect The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity. http://purl.obolibrary.org/obo/HP_0002091 node Orphanet_99731 Isolated sulfite oxidase deficiency null http://www.orpha.net/ORDO/Orphanet_99731 node EFO_0000793 obsolete_digestive system component null http://www.ebi.ac.uk/efo/EFO_0000793 node EFO_1000685 dermatographia null http://www.ebi.ac.uk/efo/EFO_1000685 node PATO_0001163 decreased concentration null http://purl.obolibrary.org/obo/PATO_0001163 node EFO_0010782 fibroblast growth factor 19 measurement null http://www.ebi.ac.uk/efo/EFO_0010782 node EFO_0009421 CXCL13 measurement null http://www.ebi.ac.uk/efo/EFO_0009421 node Orphanet_2501 Metaphyseal chondrodysplasia, Spahr type null http://www.orpha.net/ORDO/Orphanet_2501 node CHEBI_63917 symphytine oxide null http://purl.obolibrary.org/obo/CHEBI_63917 node CHEBI_32030 potassium bromide null http://purl.obolibrary.org/obo/CHEBI_32030 node EFO_1001771 cardiac edema null http://www.ebi.ac.uk/efo/EFO_1001771 node EFO_0003158 obsolete_Eastern Indian null http://www.ebi.ac.uk/efo/EFO_0003158 node Orphanet_2314 Autosomal dominant hyper-IgE syndrome null http://www.orpha.net/ORDO/Orphanet_2314 node EFO_0000900 obsolete_dorsal root ganglion null http://www.ebi.ac.uk/efo/EFO_0000900 node MONDO_0004050 telangiectatic osteogenic sarcoma null http://purl.obolibrary.org/obo/MONDO_0004050 node MONDO_0015851 rare breast malformation null http://purl.obolibrary.org/obo/MONDO_0015851 node EFO_0002790 GM19240 null http://www.ebi.ac.uk/efo/EFO_0002790 node EFO_0003632 obsolete_pharyngeal pouches 2-6 null http://www.ebi.ac.uk/efo/EFO_0003632 node EFO_0002528 substantia nigra and ventral tegmental area null http://www.ebi.ac.uk/efo/EFO_0002528 node HP_0000470 Short neck null http://purl.obolibrary.org/obo/HP_0000470 node Orphanet_96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 null http://www.orpha.net/ORDO/Orphanet_96193 node Orphanet_228343 CLN4B disease null http://www.orpha.net/ORDO/Orphanet_228343 node Orphanet_116 Beckwith-Wiedemann syndrome null http://www.orpha.net/ORDO/Orphanet_116 node EFO_1000831 bacterial meningitis null http://www.ebi.ac.uk/efo/EFO_1000831 node UBERON_0002282 stria vascularis of cochlear duct null http://purl.obolibrary.org/obo/UBERON_0002282 node MONDO_0017795 ameloblastoma null http://purl.obolibrary.org/obo/MONDO_0017795 node UBERON_2000815 nucleus of medial longitudinal fasciculus of medulla null http://purl.obolibrary.org/obo/UBERON_2000815 node Orphanet_701 Alopecia universalis null http://www.orpha.net/ORDO/Orphanet_701 node CHEBI_76004 dimethyl fumarate null http://purl.obolibrary.org/obo/CHEBI_76004 node MONDO_0056797 neurodevelopmental disorder with midbrain and hindbrain malformations null http://purl.obolibrary.org/obo/MONDO_0056797 node EFO_0007976 erucic acid measurement null http://www.ebi.ac.uk/efo/EFO_0007976 node EFO_0004571 butyrylcholinesterase measurement null http://www.ebi.ac.uk/efo/EFO_0004571 node EFO_0003720 obsolete_liver (Rattus norvegicus) null http://www.ebi.ac.uk/efo/EFO_0003720 node EFO_0000801 obsolete_muscular system null http://www.ebi.ac.uk/efo/EFO_0000801 node Orphanet_98539 Early-onset ataxia with dementia null http://www.orpha.net/ORDO/Orphanet_98539 node CHEBI_36257 taurocholate null http://purl.obolibrary.org/obo/CHEBI_36257 node EFO_0005890 osteoarthritis biomarker measurement null http://www.ebi.ac.uk/efo/EFO_0005890 node CL_0000967 Bm5 B cell Bm5 B cells are also reportedly CD10-positive, CD23-negative, CD38-negative, CD39-positive, CD44-positive, CD71-positive, and CD77-negative. http://purl.obolibrary.org/obo/CL_0000967 node EFO_0009159 combined oxidative phosphorylation deficiency 33 null http://www.ebi.ac.uk/efo/EFO_0009159 node Orphanet_96094 Distal trisomy 2q null http://www.orpha.net/ORDO/Orphanet_96094 node EFO_0003941 sex hormone-binding globulin null http://www.ebi.ac.uk/efo/EFO_0003941 node CL_0000872 splenic marginal zone macrophage Markers: Mouse: F4/80-, MARCO+, SR-A+, SIGN-R1+, Dectin2+. http://purl.obolibrary.org/obo/CL_0000872 node UBERON_0013691 buttock null http://purl.obolibrary.org/obo/UBERON_0013691 node EFO_0004096 processed array data file null http://www.ebi.ac.uk/efo/EFO_0004096 node Orphanet_602 Distal myopathy, Nonaka type null http://www.orpha.net/ORDO/Orphanet_602 node MONDO_0021142 acquired rippling muscle disease null http://purl.obolibrary.org/obo/MONDO_0021142 node MONDO_0004514 chronic rhinitis null http://purl.obolibrary.org/obo/MONDO_0004514 node EFO_0005501 proliferating embryo Ce null http://www.ebi.ac.uk/efo/EFO_0005501 node MONDO_0015137 periodic fever syndrome null http://purl.obolibrary.org/obo/MONDO_0015137 node EFO_1001297 Coronary-Subclavian Steal Syndrome null http://www.ebi.ac.uk/efo/EFO_1001297 node BTO_0003147 obsolete_juvenile leaf null http://purl.obolibrary.org/obo/BTO_0003147 node EFO_0004819 resistin measurement null http://www.ebi.ac.uk/efo/EFO_0004819 node OBI_0400110 hybridization chamber null http://purl.obolibrary.org/obo/OBI_0400110 node EFO_0010309 insular cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010309 node NCBITaxon_74940 Oncorhynchus tshawytscha null http://purl.obolibrary.org/obo/NCBITaxon_74940 node Orphanet_308463 Disorder of fructose metabolism null http://www.orpha.net/ORDO/Orphanet_308463 node EFO_0007947 serum galactose-deficient IgA1 measurement null http://www.ebi.ac.uk/efo/EFO_0007947 node MONDO_0021230 uterine cervix neoplasm null http://purl.obolibrary.org/obo/MONDO_0021230 node UBERON_0003469 respiratory system artery null http://purl.obolibrary.org/obo/UBERON_0003469 node EFO_0006510 Herpes Zoster null http://www.ebi.ac.uk/efo/EFO_0006510 node EFO_1001404 Postpericardiotomy Syndrome null http://www.ebi.ac.uk/efo/EFO_1001404 node EFO_0000536 hyperplasia null http://www.ebi.ac.uk/efo/EFO_0000536 node CLO_0017046 GM17735 null http://purl.obolibrary.org/obo/CLO_0017046 node EFO_0006731 obsolete_PA-TU-8988T null http://www.ebi.ac.uk/efo/EFO_0006731 node EFO_0007554 experimental stage null http://www.ebi.ac.uk/efo/EFO_0007554 node Orphanet_99878 Primary parathyroids hyperplasia null http://www.orpha.net/ORDO/Orphanet_99878 node MONDO_0016715 ependymoblastoma null http://purl.obolibrary.org/obo/MONDO_0016715 node GO_0006754 ATP biosynthetic process null http://purl.obolibrary.org/obo/GO_0006754 node NCBITaxon_48498 Montastraea faveolata null http://purl.obolibrary.org/obo/NCBITaxon_48498 node CL_0002443 Ly49CI-positive natural killer cell, mouse null http://purl.obolibrary.org/obo/CL_0002443 node HP_0007340 Lower limb muscle weakness Inability to perform rapid, alternating movements. http://purl.obolibrary.org/obo/HP_0007340 node EFO_0007799 syntactic complexity measurement null http://www.ebi.ac.uk/efo/EFO_0007799 node Orphanet_2719 Oculocerebral hypopigmentation syndrome, Cross type null http://www.orpha.net/ORDO/Orphanet_2719 node EFO_0004514 bone quantitative ultrasound measurement null http://www.ebi.ac.uk/efo/EFO_0004514 node EFO_0004309 platelet count null http://www.ebi.ac.uk/efo/EFO_0004309 node EFO_0007360 maxillary neoplasm null http://www.ebi.ac.uk/efo/EFO_0007360 node NCBITaxon_59861 Coregonus clupeaformis null http://purl.obolibrary.org/obo/NCBITaxon_59861 node EFO_1001305 Dermatitis, Perioral null http://www.ebi.ac.uk/efo/EFO_1001305 node MONDO_0001040 nasopharyngitis null http://purl.obolibrary.org/obo/MONDO_0001040 node CHEBI_30245 linoleate null http://purl.obolibrary.org/obo/CHEBI_30245 node Orphanet_308407 Disorder of beta and omega amino acid metabolism null http://www.orpha.net/ORDO/Orphanet_308407 node Orphanet_596 X-linked centronuclear myopathy null http://www.orpha.net/ORDO/Orphanet_596 node EFO_0007887 autosomal dominant compelling helio-ophthalmic outburst syndrome null http://www.ebi.ac.uk/efo/EFO_0007887 node Orphanet_2892 Pilodental dysplasia - refractive errors null http://www.orpha.net/ORDO/Orphanet_2892 node Orphanet_3044 Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus null http://www.orpha.net/ORDO/Orphanet_3044 node Orphanet_101089 Hyper-IgM syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_101089 node EFO_0008039 BMI-adjusted hip circumference null http://www.ebi.ac.uk/efo/EFO_0008039 node CLO_0015124 GM17126 null http://purl.obolibrary.org/obo/CLO_0015124 node HP_0032155 Abdominal cramps null http://purl.obolibrary.org/obo/HP_0032155 node EFO_0007261 epiglottitis null http://www.ebi.ac.uk/efo/EFO_0007261 node HP_0001880 Eosinophilia null http://purl.obolibrary.org/obo/HP_0001880 node Orphanet_93260 Pfeiffer syndrome type 3 null http://www.orpha.net/ORDO/Orphanet_93260 node EFO_0006404 G141 null http://www.ebi.ac.uk/efo/EFO_0006404 node EFO_0000870 obsolete_lymphatic system null http://www.ebi.ac.uk/efo/EFO_0000870 node CHEBI_64067 SB 224289 hydrochloride null http://purl.obolibrary.org/obo/CHEBI_64067 node Orphanet_98810 Paroxysmal non-kinesigenic dyskinesia null http://www.orpha.net/ORDO/Orphanet_98810 node Orphanet_1772 45,X/46,XY mixed gonadal dysgenesis null http://www.orpha.net/ORDO/Orphanet_1772 node EFO_0008127 Fc receptor-like protein 3 measurement null http://www.ebi.ac.uk/efo/EFO_0008127 node EFO_0009042 Estrogen resistance syndrome null http://www.ebi.ac.uk/efo/EFO_0009042 node MONDO_0024653 skull neoplasm null http://purl.obolibrary.org/obo/MONDO_0024653 node MONDO_0043839 ulcer disease null http://purl.obolibrary.org/obo/MONDO_0043839 node MONDO_0002898 skin cancer null http://purl.obolibrary.org/obo/MONDO_0002898 node NCBITaxon_1492 Clostridium butyricum null http://purl.obolibrary.org/obo/NCBITaxon_1492 node EFO_0009933 Thyroid preparation use measurement null http://www.ebi.ac.uk/efo/EFO_0009933 node Orphanet_64753 Spinocerebellar ataxia with axonal neuropathy type 2 See https://github.com/Orphanet/ORDO/issues/11 http://www.orpha.net/ORDO/Orphanet_64753 node EFO_0010473 cyclic adenosine monophosphate measurement null http://www.ebi.ac.uk/efo/EFO_0010473 node EFO_0008348 response to ranibizumab null http://www.ebi.ac.uk/efo/EFO_0008348 node EFO_0008829 NOIR null http://www.ebi.ac.uk/efo/EFO_0008829 node EFO_0003440 obsolete_presumptive hindbrain null http://www.ebi.ac.uk/efo/EFO_0003440 node MONDO_0001256 arteriovenous hemangioma/malformation Editor note: NCIT conflates hemangioma and malformation http://purl.obolibrary.org/obo/MONDO_0001256 node EFO_0001083 293TsiLL null http://www.ebi.ac.uk/efo/EFO_0001083 node EFO_1001180 sialolithiasis null http://www.ebi.ac.uk/efo/EFO_1001180 node NCBITaxon_1047171 Zymoseptoria tritici null http://purl.obolibrary.org/obo/NCBITaxon_1047171 node NCBITaxon_186801 Clostridia null http://purl.obolibrary.org/obo/NCBITaxon_186801 node NCBITaxon_58031 Cycas rumphii null http://purl.obolibrary.org/obo/NCBITaxon_58031 node UBERON_0006860 swim bladder null http://purl.obolibrary.org/obo/UBERON_0006860 node Orphanet_1860 Thanatophoric dysplasia type 1 null http://www.orpha.net/ORDO/Orphanet_1860 node EFO_0009130 clostridium difficile infection null http://www.ebi.ac.uk/efo/EFO_0009130 node EFO_0001950 obsolete_midgut null http://www.ebi.ac.uk/efo/EFO_0001950 node UBERON_2005029 rostral blood island null http://purl.obolibrary.org/obo/UBERON_2005029 node EFO_1000078 Ameloblastic Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000078 node EFO_1000559 Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease This is a place-holder for Orphanet term ORDO_98849 which is not currently part of the rare genetic disorders imported from ORDO2 (as of January 2016). http://www.ebi.ac.uk/efo/EFO_1000559 node UBERON_0002090 postcranial axial skeleton previous some AOs had used the term 'axial skeleton' to include the skull. This is being resolved (see tracker items above). Status: MA - fixed. http://purl.obolibrary.org/obo/UBERON_0002090 node EFO_0001763 all pairs null http://www.ebi.ac.uk/efo/EFO_0001763 node Orphanet_101102 Charcot-Marie-Tooth disease type 2H Not in the OMIM series. http://www.orpha.net/ORDO/Orphanet_101102 node NCBITaxon_1580 Lactobacillus brevis null http://purl.obolibrary.org/obo/NCBITaxon_1580 node EFO_1001884 dental phobia null http://www.ebi.ac.uk/efo/EFO_1001884 node MONDO_0015542 secondary hemophagocytic lymphohistiocytosis null http://purl.obolibrary.org/obo/MONDO_0015542 node EFO_0008436 late gestational weight gain null http://www.ebi.ac.uk/efo/EFO_0008436 node Orphanet_93382 Brachydactyly type A6 null http://www.orpha.net/ORDO/Orphanet_93382 node EFO_0001171 HCC1428 null http://www.ebi.ac.uk/efo/EFO_0001171 node HP_0002093 Respiratory insufficiency null http://purl.obolibrary.org/obo/HP_0002093 node MONDO_0019013 non-histaminic angioedema null http://purl.obolibrary.org/obo/MONDO_0019013 node Orphanet_1942 Myoclonic-astastic epilepsy null http://www.orpha.net/ORDO/Orphanet_1942 node MONDO_0020645 autosomal dominant osteopetrosis null http://purl.obolibrary.org/obo/MONDO_0020645 node UBERON_2005117 anterior lateral line primordium null http://purl.obolibrary.org/obo/UBERON_2005117 node Orphanet_369950 Intellectual disability-seizures-macrocephaly-obesity syndrome null http://www.orpha.net/ORDO/Orphanet_369950 node UBERON_0001150 body of pancreas null http://purl.obolibrary.org/obo/UBERON_0001150 node CHEBI_16482 naphthalene null http://purl.obolibrary.org/obo/CHEBI_16482 node MONDO_0042983 neurocutaneous syndrome A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category http://purl.obolibrary.org/obo/MONDO_0042983 node EFO_1001972 undifferentiated pleomorphic sarcoma null http://www.ebi.ac.uk/efo/EFO_1001972 node Orphanet_205 Crigler-Najjar syndrome null http://www.orpha.net/ORDO/Orphanet_205 node EFO_1000387 obsolete_mucinuos carcinoma null http://www.ebi.ac.uk/efo/EFO_1000387 node EFO_0000339 chronic myelogenous leukemia null http://www.ebi.ac.uk/efo/EFO_0000339 node EFO_0004173 cot filtration for highly repetitive genomic DNA null http://www.ebi.ac.uk/efo/EFO_0004173 node NCBITaxon_3522 Casuarina glauca null http://purl.obolibrary.org/obo/NCBITaxon_3522 node Orphanet_206662 Inclusion myopathy null http://www.orpha.net/ORDO/Orphanet_206662 node Orphanet_238329 Severe X-linked mitochondrial encephalomyopathy null http://www.orpha.net/ORDO/Orphanet_238329 node CHEBI_59163 biomarker null http://purl.obolibrary.org/obo/CHEBI_59163 node Orphanet_300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_300496 node EFO_1001374 Mycoplasmatales Infections null http://www.ebi.ac.uk/efo/EFO_1001374 node EFO_1001855 Superior Vena Cava Syndrome null http://www.ebi.ac.uk/efo/EFO_1001855 node EFO_0005924 binge eating null http://www.ebi.ac.uk/efo/EFO_0005924 node EFO_0009827 abnormal result of diagnostic imaging null http://www.ebi.ac.uk/efo/EFO_0009827 node EFO_1000312 Kidney Angiomyolipoma null http://www.ebi.ac.uk/efo/EFO_1000312 node EFO_0010367 lysophosphatidylethanolamine 18:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010367 node CHEBI_23414 copper(2+) sulfate null http://purl.obolibrary.org/obo/CHEBI_23414 node Orphanet_83461 Congenital primary aphakia null http://www.orpha.net/ORDO/Orphanet_83461 node NCBITaxon_413888 Caldicellulosiruptor hydrothermalis null http://purl.obolibrary.org/obo/NCBITaxon_413888 node EFO_0004261 osteitis deformans null http://www.ebi.ac.uk/efo/EFO_0004261 node EFO_0010848 HG02763 null http://www.ebi.ac.uk/efo/EFO_0010848 node NCBITaxon_143623 Maylandia null http://purl.obolibrary.org/obo/NCBITaxon_143623 node EFO_0005057 myoglobin measurement null http://www.ebi.ac.uk/efo/EFO_0005057 node CL_0000746 cardiac muscle cell This class encompasses the muscle cells responsible for heart* contraction in both vertebrates and arthropods. The ultrastucture of a wide range of arthropod heart cells has been examined including spiders, horseshoe crabs, crustaceans (see Sherman, 1973 and refs therein) and insects (see Lehmacher et al (2012) and refs therein). According to these refs, the cells participating in heart contraction in all cases are transversely striated. Insects hearts additionally contain ostial cells, also transversely striated muscle cells, but which do not participate in heart contraction. http://purl.obolibrary.org/obo/CL_0000746 node MONDO_0001955 protozoal dysentery null http://purl.obolibrary.org/obo/MONDO_0001955 node EFO_0002336 obsolete_SKNDZ null http://www.ebi.ac.uk/efo/EFO_0002336 node HP_0010972 Anemia of inadequate production null http://purl.obolibrary.org/obo/HP_0010972 node CLO_0013753 GM17183 null http://purl.obolibrary.org/obo/CLO_0013753 node HP_0000016 Urinary retention Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic. http://purl.obolibrary.org/obo/HP_0000016 node EFO_1001462 erysipelas The most common cause is group A streptococcal bacteria, especially Streptococcus pyogenes http://www.ebi.ac.uk/efo/EFO_1001462 node Orphanet_165707 Syndromic urogenital tract malformation null http://www.orpha.net/ORDO/Orphanet_165707 node UBERON_0005292 extraembryonic tissue null http://purl.obolibrary.org/obo/UBERON_0005292 node HP_0012532 Chronic pain Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing. http://purl.obolibrary.org/obo/HP_0012532 node Orphanet_401993 Cold-induced sweating syndrome-hyperthermia spectrum Editor note: in ORDO this is classified as AR, but this leads to inconsistencies due to AD forms http://www.orpha.net/ORDO/Orphanet_401993 node EFO_1000358 Malignant Ovarian Mixed Epithelial Tumor null http://www.ebi.ac.uk/efo/EFO_1000358 node Orphanet_183450 Genetic hair anomaly null http://www.orpha.net/ORDO/Orphanet_183450 node CLO_0021459 AG10941 null http://purl.obolibrary.org/obo/CLO_0021459 node HP_0002164 Nail dysplasia null http://purl.obolibrary.org/obo/HP_0002164 node CLO_0015126 GM17127 null http://purl.obolibrary.org/obo/CLO_0015126 node CHEBI_64213 cantharidin null http://purl.obolibrary.org/obo/CHEBI_64213 node MONDO_0017159 syndrome with pulmonary hypertension as a major feature null http://purl.obolibrary.org/obo/MONDO_0017159 node CLO_0031610 GM14508 null http://purl.obolibrary.org/obo/CLO_0031610 node EFO_0004098 array data file null http://www.ebi.ac.uk/efo/EFO_0004098 node EFO_0004117 obsolete_Atlas experiment type flag null http://www.ebi.ac.uk/efo/EFO_0004117 node EFO_0002219 KHOS240S null http://www.ebi.ac.uk/efo/EFO_0002219 node MONDO_0002970 ciliary body disease null http://purl.obolibrary.org/obo/MONDO_0002970 node Orphanet_2056 Essential fructosuria null http://www.orpha.net/ORDO/Orphanet_2056 node MONDO_0016406 other metabolic disease with epilepsy Editor note: consider merging http://purl.obolibrary.org/obo/MONDO_0016406 node EFO_0000011 CS57548 null http://www.ebi.ac.uk/efo/EFO_0000011 node EFO_0004205 Illumina MiSeq null http://www.ebi.ac.uk/efo/EFO_0004205 node UBERON_0005396 carotid artery segment null http://purl.obolibrary.org/obo/UBERON_0005396 node Orphanet_2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland null http://www.orpha.net/ORDO/Orphanet_2239 node EFO_0007051 vein graft stenosis null http://www.ebi.ac.uk/efo/EFO_0007051 node PO_0020003 plant ovule A seed (PO:0009010) develops from a plant ovule. In angiosperms, a plant ovule is part of a plant ovary (PO:0009072). In conifers, a plant ovule is part of an ovuliferous scale (add term). If you are annotating to this structure for Zea mays or other grasses, please also add an annotation to the corresponding floret type. Choose the most specific term possible from: spikelet floret (PO:0009082), ear floret (PO:0006354), upper floret of pedicellate spikelet of ear (PO:0006350), upper floret of sessile spikelet of ear (PO:0006352). http://purl.obolibrary.org/obo/PO_0020003 node MONDO_0002871 testicular trophoblastic tumor null http://purl.obolibrary.org/obo/MONDO_0002871 node MONDO_0016003 ehrlichiosis null http://purl.obolibrary.org/obo/MONDO_0016003 node Orphanet_98698 Ichthyosis associated with ocular features null http://www.orpha.net/ORDO/Orphanet_98698 node EFO_0001952 obsolete_internal carotid artery null http://www.ebi.ac.uk/efo/EFO_0001952 node EFO_0001262 ZR751 null http://www.ebi.ac.uk/efo/EFO_0001262 node EFO_0005210 brain connectivity measurement null http://www.ebi.ac.uk/efo/EFO_0005210 node NCBITaxon_1836 Saccharopolyspora erythraea null http://purl.obolibrary.org/obo/NCBITaxon_1836 node MONDO_0032935 rhizomelic limb shortening with dysmorphic features null http://purl.obolibrary.org/obo/MONDO_0032935 node MONDO_0015660 sporadic fetal brain disruption sequence null http://purl.obolibrary.org/obo/MONDO_0015660 node Orphanet_180071 Unilateral aplasia of the Müllerian ducts null http://www.orpha.net/ORDO/Orphanet_180071 node Orphanet_101033 Peters anomaly - cataract null http://www.orpha.net/ORDO/Orphanet_101033 node EFO_0008799 MCC-Seq null http://www.ebi.ac.uk/efo/EFO_0008799 node Orphanet_2257 Familial primary pulmonary hypoplasia null http://www.orpha.net/ORDO/Orphanet_2257 node EFO_0008841 PAIR null http://www.ebi.ac.uk/efo/EFO_0008841 node BTO_0004264 INC-2 cell null http://purl.obolibrary.org/obo/BTO_0004264 node UBERON_0001820 sweat gland null http://purl.obolibrary.org/obo/UBERON_0001820 node Orphanet_98096 Autosomal recessive metabolic cerebellar ataxia null http://www.orpha.net/ORDO/Orphanet_98096 node Orphanet_79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type a null http://www.orpha.net/ORDO/Orphanet_79258 node EFO_0001350 Dahl salt-sensitive null http://www.ebi.ac.uk/efo/EFO_0001350 node Orphanet_325690 Genetic disorder of sex development null http://www.orpha.net/ORDO/Orphanet_325690 node MONDO_0000611 pre-malignant neoplasm null http://purl.obolibrary.org/obo/MONDO_0000611 node UBERON_6005538 clypeo-labral primordium null http://purl.obolibrary.org/obo/UBERON_6005538 node EFO_0008906 scChIP-seq null http://www.ebi.ac.uk/efo/EFO_0008906 node Orphanet_2345 Isolated Klippel-Feil syndrome null http://www.orpha.net/ORDO/Orphanet_2345 node CHEBI_36791 escitalopram null http://purl.obolibrary.org/obo/CHEBI_36791 node EFO_1000823 aseptic meningitis null http://www.ebi.ac.uk/efo/EFO_1000823 node EFO_0003845 obsolete_kidney stone null http://www.ebi.ac.uk/efo/EFO_0003845 node Orphanet_457 Harlequin ichthyosis null http://www.orpha.net/ORDO/Orphanet_457 node Orphanet_98203 Combined dystonia null http://www.orpha.net/ORDO/Orphanet_98203 node EFO_1000636 inflammatory skin disease TODO merge into MONDO:0002406 http://www.ebi.ac.uk/efo/EFO_1000636 node EFO_0002182 GCT null http://www.ebi.ac.uk/efo/EFO_0002182 node HP_0001525 Severe failure to thrive null http://purl.obolibrary.org/obo/HP_0001525 node EFO_0008693 CLASH null http://www.ebi.ac.uk/efo/EFO_0008693 node HP_0004378 Abnormality of the anus The anal canal is continuous proximally with the rectum and distally terminates with the anus. http://purl.obolibrary.org/obo/HP_0004378 node FBbt_00005673 lateral cord glial cell null http://purl.obolibrary.org/obo/FBbt_00005673 node Orphanet_79159 Isobutyryl-CoA dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_79159 node MONDO_0002373 benign mesothelioma null http://purl.obolibrary.org/obo/MONDO_0002373 node Orphanet_380 Greig cephalopolysyndactyly syndrome null http://www.orpha.net/ORDO/Orphanet_380 node Orphanet_220465 Laron syndrome with immunodeficiency null http://www.orpha.net/ORDO/Orphanet_220465 node Orphanet_79201 Glycogen storage disease null http://www.orpha.net/ORDO/Orphanet_79201 node Orphanet_98905 Congenital multicore myopathy with external ophthalmoplegia null http://www.orpha.net/ORDO/Orphanet_98905 node EFO_0002886 stem cell derived cell line null http://www.ebi.ac.uk/efo/EFO_0002886 node PO_0009047 stem The main trunk of a plant; specifically: a primary plant axis that develops buds and shoots instead of roots. http://purl.obolibrary.org/obo/PO_0009047 node EFO_0003933 obsolete_mitral valve null http://www.ebi.ac.uk/efo/EFO_0003933 node CHEBI_2666 amitriptyline null http://purl.obolibrary.org/obo/CHEBI_2666 node EFO_1000243 Epidermal Inclusion Cyst null http://www.ebi.ac.uk/efo/EFO_1000243 node Orphanet_157719 Juvenile or adult CACH syndrome null http://www.orpha.net/ORDO/Orphanet_157719 node EFO_0002699 high throughput sequencer null http://www.ebi.ac.uk/efo/EFO_0002699 node EFO_1000724 lichen disease null http://www.ebi.ac.uk/efo/EFO_1000724 node EFO_0003746 random exon sequencing null http://www.ebi.ac.uk/efo/EFO_0003746 node NCBITaxon_12144 Cymbidium ringspot virus null http://purl.obolibrary.org/obo/NCBITaxon_12144 node EFO_0007649 renal elimination rate measurement null http://www.ebi.ac.uk/efo/EFO_0007649 node EFO_0007210 clonorchiasis null http://www.ebi.ac.uk/efo/EFO_0007210 node GO_0016023 cytoplasmic membrane-bounded vesicle null http://purl.obolibrary.org/obo/GO_0016023 node MONDO_0004380 dendritic cell sarcoma Editor note: we place the NCIT class here even though it is NOS http://purl.obolibrary.org/obo/MONDO_0004380 node EFO_0002083 SW480 null http://www.ebi.ac.uk/efo/EFO_0002083 node HP_0001907 Thromboembolism null http://purl.obolibrary.org/obo/HP_0001907 node EFO_1000945 gastric antral vascular ectasia null http://www.ebi.ac.uk/efo/EFO_1000945 node CL_0002035 Slamf1-negative multipotent progenitor cell Markers are associated with mouse cells. http://purl.obolibrary.org/obo/CL_0002035 node EFO_0001085 600MPE null http://www.ebi.ac.uk/efo/EFO_0001085 node CHEBI_37733 cholinesterase inhibitor null http://purl.obolibrary.org/obo/CHEBI_37733 node Orphanet_284271 Autosomal recessive cerebellar ataxia - psychomotor retardation null http://www.orpha.net/ORDO/Orphanet_284271 node EFO_1001182 silo filler's disease null http://www.ebi.ac.uk/efo/EFO_1001182 node Orphanet_633 Laron syndrome null http://www.orpha.net/ORDO/Orphanet_633 node Orphanet_209335 Adult-onset proximal spinal muscular atrophy, autosomal dominant null http://www.orpha.net/ORDO/Orphanet_209335 node EFO_0004685 hip geometry null http://www.ebi.ac.uk/efo/EFO_0004685 node EFO_1000331 obsolete_lung carcioma null http://www.ebi.ac.uk/efo/EFO_1000331 node CLO_0013135 GM17291 null http://purl.obolibrary.org/obo/CLO_0013135 node EFO_0002787 GM18507 null http://www.ebi.ac.uk/efo/EFO_0002787 node HP_0004349 Reduced bone mineral density null http://purl.obolibrary.org/obo/HP_0004349 node Orphanet_399980 Rare genetic male infertility null http://www.orpha.net/ORDO/Orphanet_399980 node UBERON_2001076 intestinal bulb null http://purl.obolibrary.org/obo/UBERON_2001076 node MONDO_0016493 variant of Guillain-Barre syndrome null http://purl.obolibrary.org/obo/MONDO_0016493 node ZFA_0000963 slow muscle cell somite 1 null http://purl.obolibrary.org/obo/ZFA_0000963 node MONDO_0016974 thymoma type B null http://purl.obolibrary.org/obo/MONDO_0016974 node EFO_0001173 HCC1569 null http://www.ebi.ac.uk/efo/EFO_0001173 node Orphanet_73246 Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay null http://www.orpha.net/ORDO/Orphanet_73246 node EFO_0005802 cartilage disease Editor note: DO places this under articular cartilage disease http://www.ebi.ac.uk/efo/EFO_0005802 node CHEBI_106304 sphingomyelin d18:1/16:0 null http://purl.obolibrary.org/obo/CHEBI_106304 node GO_0008016 regulation of heart contraction null http://purl.obolibrary.org/obo/GO_0008016 node EFO_1001270 Arterio-Arterial Fistula null http://www.ebi.ac.uk/efo/EFO_1001270 node CLO_0031580 GM14568 null http://purl.obolibrary.org/obo/CLO_0031580 node CL_0000823 immature natural killer cell In mouse the NKR are Ly49 molecules and in human these cells express KIR molecules. http://purl.obolibrary.org/obo/CL_0000823 node EFO_0004568 serum non-albumin protein measurement null http://www.ebi.ac.uk/efo/EFO_0004568 node EFO_0005615 prostate cancer staging null http://www.ebi.ac.uk/efo/EFO_0005615 node EFO_0009518 complication null http://www.ebi.ac.uk/efo/EFO_0009518 node Orphanet_88950 Autosomal dominant medullary cystic kidney disease with hyperuricemia null http://www.orpha.net/ORDO/Orphanet_88950 node CHEBI_88956 Pyro-L-glutaminyl-L-glutamine null http://purl.obolibrary.org/obo/CHEBI_88956 node Orphanet_93110 Posterior urethral valve null http://www.orpha.net/ORDO/Orphanet_93110 node EFO_0003131 HCC366 null http://www.ebi.ac.uk/efo/EFO_0003131 node NCBITaxon_4679 Allium cepa null http://purl.obolibrary.org/obo/NCBITaxon_4679 node UBERON_0003901 horizontal septum null http://purl.obolibrary.org/obo/UBERON_0003901 node EFO_0005197 beta-2 microglobulin measurement null http://www.ebi.ac.uk/efo/EFO_0005197 node Orphanet_352665 9q21 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_352665 node EFO_0009302 amelogenesis imperfecta, type ij null http://www.ebi.ac.uk/efo/EFO_0009302 node GO_0008104 protein localization null http://purl.obolibrary.org/obo/GO_0008104 node EFO_0004175 Methylation Spanning Linker Library (MSLL) processing null http://www.ebi.ac.uk/efo/EFO_0004175 node EFO_0008988 Ψ-seq null http://www.ebi.ac.uk/efo/EFO_0008988 node CL_0000911 effector T cell null http://purl.obolibrary.org/obo/CL_0000911 node EFO_0002501 anaplastic oligodendroglioma null http://www.ebi.ac.uk/efo/EFO_0002501 node EFO_0005703 G401.6 null http://www.ebi.ac.uk/efo/EFO_0005703 node EFO_0009606 macular degeneration null http://www.ebi.ac.uk/efo/EFO_0009606 node CHEBI_28368 novobiocin null http://purl.obolibrary.org/obo/CHEBI_28368 node UBERON_0003512 lung blood vessel null http://purl.obolibrary.org/obo/UBERON_0003512 node EFO_0002115 BFTC905 null http://www.ebi.ac.uk/efo/EFO_0002115 node EFO_0010568 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities null http://www.ebi.ac.uk/efo/EFO_0010568 node EFO_0000091 obsolete_Arbisopsis thaliana null http://www.ebi.ac.uk/efo/EFO_0000091 node HP_0100659 Abnormality of the cerebral vasculature null http://purl.obolibrary.org/obo/HP_0100659 node EFO_0004263 partial epilepsy null http://www.ebi.ac.uk/efo/EFO_0004263 node EFO_0006663 NCI-H1781 null http://www.ebi.ac.uk/efo/EFO_0006663 node UBERON_2000264 preopercle null http://purl.obolibrary.org/obo/UBERON_2000264 node Orphanet_231154 Combined immunodeficiency T+ B+ due to partial RAG1 deficiency null http://www.orpha.net/ORDO/Orphanet_231154 node Orphanet_101987 Constitutional neutropenia null http://www.orpha.net/ORDO/Orphanet_101987 node EFO_0006507 nicotine glucuronidation measurement null http://www.ebi.ac.uk/efo/EFO_0006507 node Orphanet_66625 Cerebro-oculo-nasal syndrome null http://www.orpha.net/ORDO/Orphanet_66625 node EFO_0010175 EasySep cell separation null http://www.ebi.ac.uk/efo/EFO_0010175 node EFO_0010656 mitochondrial complex V deficiency, nuclear type 6 null http://www.ebi.ac.uk/efo/EFO_0010656 node UBERON_0001000 vas deferens null http://purl.obolibrary.org/obo/UBERON_0001000 node EFO_0006728 OVTOKO null http://www.ebi.ac.uk/efo/EFO_0006728 node MONDO_0002562 demyelinating disease null http://purl.obolibrary.org/obo/MONDO_0002562 node CLO_0016558 GM17754 null http://purl.obolibrary.org/obo/CLO_0016558 node NCBITaxon_282458 Staphylococcus aureus subsp. aureus MRSA252 null http://purl.obolibrary.org/obo/NCBITaxon_282458 node NCBITaxon_67825 Citrobacter rodentium null http://purl.obolibrary.org/obo/NCBITaxon_67825 node HP_0000989 Pruritus null http://purl.obolibrary.org/obo/HP_0000989 node Orphanet_370127 Medich giant platelet syndrome null http://www.orpha.net/ORDO/Orphanet_370127 node EFO_0001667 CEM/C1 null http://www.ebi.ac.uk/efo/EFO_0001667 node CHEBI_31604 ferric ammonium citrate null http://purl.obolibrary.org/obo/CHEBI_31604 node MONDO_0001858 Tietze syndrome null http://purl.obolibrary.org/obo/MONDO_0001858 node MONDO_0037870 valine metabolism disease null http://purl.obolibrary.org/obo/MONDO_0037870 node Orphanet_79132 Sparse hair - short stature - skin anomalies null http://www.orpha.net/ORDO/Orphanet_79132 node EFO_0010058 Fluidigm C1-based library preparation null http://www.ebi.ac.uk/efo/EFO_0010058 node EFO_0008284 sialic acid-binding Ig-like lectin 14 measurement null http://www.ebi.ac.uk/efo/EFO_0008284 node EFO_0007920 response to fluoroquinolones null http://www.ebi.ac.uk/efo/EFO_0007920 node UO_0000062 molar null http://purl.obolibrary.org/obo/UO_0000062 node CL_0001003 mature CD8_alpha-negative CD11b-positive dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000016)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001003 node Orphanet_314603 Autosomal recessive spastic ataxia with leukoencephalopathy null http://www.orpha.net/ORDO/Orphanet_314603 node EFO_0007743 influenza A severity measurement null http://www.ebi.ac.uk/efo/EFO_0007743 node EFO_0006816 response to heparin null http://www.ebi.ac.uk/efo/EFO_0006816 node CLO_0016646 GM17771 null http://purl.obolibrary.org/obo/CLO_0016646 node Orphanet_1445 Ring chromosome 21 null http://www.orpha.net/ORDO/Orphanet_1445 node HP_0001976 Reduced antithrombin III activity Antithrombin III (ATIII) inhibits the coagulation cascade by lysing thrombin and factor Xa. The defective inhibition of the coagulation cascade is associated with an increased risk of venous and arterial thrombosis. The physiological target proteases of antithrombin are those of the intrinsic pathway, namely the activated forms of Factor X, Factor IX, Factor XI, Factor XII, and, to a greater extent, Factor II (thrombin), and also the activated form of Factor VII (VIIa) from the the extrinsic pathway. http://purl.obolibrary.org/obo/HP_0001976 node MONDO_0024497 tumor grade 3 or 4, general grading system null http://purl.obolibrary.org/obo/MONDO_0024497 node Orphanet_100048 Tubular duplication of the esophagus null http://www.orpha.net/ORDO/Orphanet_100048 node HP_0009779 3-4 toe syndactyly null http://purl.obolibrary.org/obo/HP_0009779 node EFO_0001755 compound treatment design null http://www.ebi.ac.uk/efo/EFO_0001755 node CHEBI_5417 glucosamine null http://purl.obolibrary.org/obo/CHEBI_5417 node Orphanet_353277 Rubinstein-Taybi syndrome due to CREBBP mutations null http://www.orpha.net/ORDO/Orphanet_353277 node EFO_0002495 obsolete_accelerated neurological senescence null http://www.ebi.ac.uk/efo/EFO_0002495 node EFO_0010146 parietal lobe volume measurement null http://www.ebi.ac.uk/efo/EFO_0010146 node EFO_0008372 laterality measurement null http://www.ebi.ac.uk/efo/EFO_0008372 node MONDO_0002732 lung benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0002732 node Orphanet_275742 Genetic infertility null http://www.orpha.net/ORDO/Orphanet_275742 node EFO_0008770 HTGTS null http://www.ebi.ac.uk/efo/EFO_0008770 node Orphanet_140941 Short stature due to primary acid-labile subunit deficiency null http://www.orpha.net/ORDO/Orphanet_140941 node CHEBI_63632 topotecan null http://purl.obolibrary.org/obo/CHEBI_63632 node MONDO_0030024 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities null http://purl.obolibrary.org/obo/MONDO_0030024 node Orphanet_98963 Granular corneal dystrophy type II null http://www.orpha.net/ORDO/Orphanet_98963 node Orphanet_2510 Micro syndrome null http://www.orpha.net/ORDO/Orphanet_2510 node Orphanet_371200 Congenital disorder of glycosylation with skin involvement null http://www.orpha.net/ORDO/Orphanet_371200 node EFO_0002583 Theiler stage 17 null http://www.ebi.ac.uk/efo/EFO_0002583 node UBERON_0000925 endoderm null http://purl.obolibrary.org/obo/UBERON_0000925 node UBERON_0002186 bronchiole null http://purl.obolibrary.org/obo/UBERON_0002186 node HP_0000263 Oxycephaly null http://purl.obolibrary.org/obo/HP_0000263 node UO_0000006 substance unit null http://purl.obolibrary.org/obo/UO_0000006 node EFO_0001901 aerial part null http://www.ebi.ac.uk/efo/EFO_0001901 node EFO_0009449 keratitis null http://www.ebi.ac.uk/efo/EFO_0009449 node NCBITaxon_129105 Drosophila santomea null http://purl.obolibrary.org/obo/NCBITaxon_129105 node Orphanet_391320 East Texas bleeding disorder null http://www.orpha.net/ORDO/Orphanet_391320 node EFO_0003624 obsolete_ventricular zone null http://www.ebi.ac.uk/efo/EFO_0003624 node Orphanet_236 Trisomy 9p null http://www.orpha.net/ORDO/Orphanet_236 node EFO_0004541 HbA1c measurement null http://www.ebi.ac.uk/efo/EFO_0004541 node CHEBI_36383 strontium chloride null http://purl.obolibrary.org/obo/CHEBI_36383 node EFO_1000415 Ovarian Embryonal Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000415 node EFO_0003437 obsolete_presumptive endoderm null http://www.ebi.ac.uk/efo/EFO_0003437 node EFO_0004364 neurobehavioral manifestations null http://www.ebi.ac.uk/efo/EFO_0004364 node HP_0001304 Torsion dystonia null http://purl.obolibrary.org/obo/HP_0001304 node Orphanet_137871 Laminopathy type Decaudain-Vigouroux null http://www.orpha.net/ORDO/Orphanet_137871 node NCBITaxon_85620 Candidatus Phytoplasma asteris null http://purl.obolibrary.org/obo/NCBITaxon_85620 node Orphanet_710 Pfeiffer syndrome null http://www.orpha.net/ORDO/Orphanet_710 node NCBITaxon_303 Pseudomonas putida null http://purl.obolibrary.org/obo/NCBITaxon_303 node GO_0035812 renal sodium excretion null http://purl.obolibrary.org/obo/GO_0035812 node EFO_0009537 cervical disc degenerative disorder null http://www.ebi.ac.uk/efo/EFO_0009537 node EFO_0007124 salivary gland lesion null http://www.ebi.ac.uk/efo/EFO_0007124 node EFO_1000022 obsolete_cervical squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_1000022 node Orphanet_210141 Inherited congenital spastic tetraplegia null http://www.orpha.net/ORDO/Orphanet_210141 node EFO_0007428 periodic limb movement disorder null http://www.ebi.ac.uk/efo/EFO_0007428 node EFO_0003525 obsolete_olfactory region null http://www.ebi.ac.uk/efo/EFO_0003525 node EFO_0004452 obsolete_Arabidopsis Growth Stage 6.50 null http://www.ebi.ac.uk/efo/EFO_0004452 node CLO_0014942 GM17119 null http://purl.obolibrary.org/obo/CLO_0014942 node PO_0005352 xylem Functions in the translocation of water and solutes from roots (PO:0009005) to the shoot system (PO:0009006) and in support. Tracheary elements have lignified cell walls with secondary thickening and are dead at maturity. http://purl.obolibrary.org/obo/PO_0005352 node Orphanet_3197 Hereditary hyperekplexia null http://www.orpha.net/ORDO/Orphanet_3197 node CHEBI_27617 monensin A null http://purl.obolibrary.org/obo/CHEBI_27617 node MONDO_0015333 progeroid syndrome null http://purl.obolibrary.org/obo/MONDO_0015333 node HP_0012745 Short palpebral fissure null http://purl.obolibrary.org/obo/HP_0012745 node ZFA_0000672 hyomandibula null http://purl.obolibrary.org/obo/ZFA_0000672 node EFO_1001488 influenza A (H1N1) null http://www.ebi.ac.uk/efo/EFO_1001488 node EFO_0007212 coccidiosis null http://www.ebi.ac.uk/efo/EFO_0007212 node CHEBI_64560 lysophosphatidylcholine 16:1 null http://purl.obolibrary.org/obo/CHEBI_64560 node Orphanet_295169 Postaxial polydactyly type B, bilateral null http://www.orpha.net/ORDO/Orphanet_295169 node EFO_0002085 T98G null http://www.ebi.ac.uk/efo/EFO_0002085 node EFO_1001969 squamous cell breast carcinoma, acantholytic variant null http://www.ebi.ac.uk/efo/EFO_1001969 node EFO_0006898 airway wall thickness measurement null http://www.ebi.ac.uk/efo/EFO_0006898 node EFO_0009382 metabolically healthy obesity null http://www.ebi.ac.uk/efo/EFO_0009382 node MONDO_0004860 vitreous disease null http://purl.obolibrary.org/obo/MONDO_0004860 node MONDO_0021350 neoplasm of thorax null http://purl.obolibrary.org/obo/MONDO_0021350 node Orphanet_165661 Genetic pancreatic disease null http://www.orpha.net/ORDO/Orphanet_165661 node Orphanet_295051 Lower limb hypertrophy null http://www.orpha.net/ORDO/Orphanet_295051 node Orphanet_44890 Gastrointestinal stromal tumor null http://www.orpha.net/ORDO/Orphanet_44890 node Orphanet_3304 Fallot complex - intellectual disability - growth delay null http://www.orpha.net/ORDO/Orphanet_3304 node MONDO_0000090 progressive external ophthalmoplegia with mitochondrial DNA deletions null http://purl.obolibrary.org/obo/MONDO_0000090 node UBERON_0001235 adrenal cortex null http://purl.obolibrary.org/obo/UBERON_0001235 node MONDO_0003111 gastric neuroendocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0003111 node Orphanet_2087 Glomerulonephritis - sparse hair - telangiectasis null http://www.orpha.net/ORDO/Orphanet_2087 node EFO_1001413 Respiratory Syncytial Virus Infection null http://www.ebi.ac.uk/efo/EFO_1001413 node EFO_0000042 CS57626 null http://www.ebi.ac.uk/efo/EFO_0000042 node EFO_1000309 Juvenile Myelomonocytic Leukemia null http://www.ebi.ac.uk/efo/EFO_1000309 node NCBITaxon_86662 Bacillus weihenstephanensis null http://purl.obolibrary.org/obo/NCBITaxon_86662 node FBbt_00005501 Malpighian tubule main body primordium null http://purl.obolibrary.org/obo/FBbt_00005501 node CLO_0013937 GM17143 null http://purl.obolibrary.org/obo/CLO_0013937 node CLO_0031519 GM14506 null http://purl.obolibrary.org/obo/CLO_0031519 node NCBITaxon_3711 Brassica rapa null http://purl.obolibrary.org/obo/NCBITaxon_3711 node HP_0100537 Fasciitis null http://purl.obolibrary.org/obo/HP_0100537 node EFO_0004049 CB491 null http://www.ebi.ac.uk/efo/EFO_0004049 node Orphanet_85174 Pseudodiastrophic dysplasia null http://www.orpha.net/ORDO/Orphanet_85174 node EFO_0010920 membrane-bound aminopeptidase P measurement null http://www.ebi.ac.uk/efo/EFO_0010920 node Orphanet_77258 Trichorhinophalangeal syndrome type 1 and 3 null http://www.orpha.net/ORDO/Orphanet_77258 node EFO_0010733 polyunsaturated fatty acid measurement null http://www.ebi.ac.uk/efo/EFO_0010733 node EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 null http://www.ebi.ac.uk/efo/EFO_1001501 node EFO_0000130 CS57822 null http://www.ebi.ac.uk/efo/EFO_0000130 node EFO_0005199 renal transplant outcome measurement null http://www.ebi.ac.uk/efo/EFO_0005199 node CLO_0031607 GM14533 null http://purl.obolibrary.org/obo/CLO_0031607 node CHEBI_85825 triacylglycerol 48:4 null http://purl.obolibrary.org/obo/CHEBI_85825 node CHEBI_16737 creatinine null http://purl.obolibrary.org/obo/CHEBI_16737 node MONDO_0021205 disease of ear null http://purl.obolibrary.org/obo/MONDO_0021205 node EFO_0000351 obsolete_clinical factor null http://www.ebi.ac.uk/efo/EFO_0000351 node GO_0050777 negative regulation of immune response null http://purl.obolibrary.org/obo/GO_0050777 node MONDO_0002277 arteriosclerosis disorder null http://purl.obolibrary.org/obo/MONDO_0002277 node EFO_1001032 malignant lymphatic vessel tumor Editor note: do not axiomatize as cancer of lymphatic vessel http://www.ebi.ac.uk/efo/EFO_1001032 node Orphanet_1253 Ascher syndrome null http://www.orpha.net/ORDO/Orphanet_1253 node Orphanet_1048 Isolated anencephaly/exencephaly null http://www.orpha.net/ORDO/Orphanet_1048 node EFO_0006592 Hs 852.T null http://www.ebi.ac.uk/efo/EFO_0006592 node EFO_0007896 zeaxanthin measurement null http://www.ebi.ac.uk/efo/EFO_0007896 node EFO_0010821 liver fat measurement null http://www.ebi.ac.uk/efo/EFO_0010821 node UBERON_0011905 plantaris null http://purl.obolibrary.org/obo/UBERON_0011905 node MONDO_0030089 diabetes mellitus, permanent neonatal 4 null http://purl.obolibrary.org/obo/MONDO_0030089 node EFO_0005306 ventricular tachycardia null http://www.ebi.ac.uk/efo/EFO_0005306 node PO_0007133 leaf production stage null http://purl.obolibrary.org/obo/PO_0007133 node GO_0014848 urinary tract smooth muscle contraction null http://purl.obolibrary.org/obo/GO_0014848 node CHEBI_17752 N(6)-acetyl-L-lysine null http://purl.obolibrary.org/obo/CHEBI_17752 node EFO_0008937 snDrop-seq null http://www.ebi.ac.uk/efo/EFO_0008937 node NCBITaxon_362338 Hirschmanniella oryzae null http://purl.obolibrary.org/obo/NCBITaxon_362338 node MONDO_0024292 gastrointestinal polyp null http://purl.obolibrary.org/obo/MONDO_0024292 node Orphanet_1136 Arnold-Chiari malformation type II null http://www.orpha.net/ORDO/Orphanet_1136 node EFO_0006680 NCI-H2452 null http://www.ebi.ac.uk/efo/EFO_0006680 node CHEBI_295975 choline phosphate(1-) null http://purl.obolibrary.org/obo/CHEBI_295975 node CLO_0013790 GM17189 null http://purl.obolibrary.org/obo/CLO_0013790 node EFO_0002186 HCC1599 null http://www.ebi.ac.uk/efo/EFO_0002186 node EFO_0001259 UBOC1 null http://www.ebi.ac.uk/efo/EFO_0001259 node Orphanet_75391 Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency null http://www.orpha.net/ORDO/Orphanet_75391 node HP_0009944 Partial duplication of thumb phalanx null http://purl.obolibrary.org/obo/HP_0009944 node EFO_1000590 Thyroid Gland Mucoepidermoid Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000590 node EFO_0009942 Glucocorticoid use measurement null http://www.ebi.ac.uk/efo/EFO_0009942 node EFO_1000888 cystic lymphangioma null http://www.ebi.ac.uk/efo/EFO_1000888 node MONDO_0021074 precancerous condition Editor note: check classification. Also consider changing def, NCIT defines as disease. Also consider a grouping for this and paraneoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0021074 node Orphanet_65720 Arthrogryposis - severe scoliosis null http://www.orpha.net/ORDO/Orphanet_65720 node EFO_0008838 ORGANIC null http://www.ebi.ac.uk/efo/EFO_0008838 node NCBITaxon_224729 Salmonella enterica subsp. enterica serovar Java null http://purl.obolibrary.org/obo/NCBITaxon_224729 node EFO_0007359 mast-cell leukemia null http://www.ebi.ac.uk/efo/EFO_0007359 node CLO_0022132 AG13066 null http://purl.obolibrary.org/obo/CLO_0022132 node EFO_0005001 phenylalanine measurement null http://www.ebi.ac.uk/efo/EFO_0005001 node EFO_0007401 oligohydramnios Consider obsoleting as represents a finding http://www.ebi.ac.uk/efo/EFO_0007401 node EFO_0002274 NCI-H2030 null http://www.ebi.ac.uk/efo/EFO_0002274 node EFO_0001347 Syracuse Low Avoidance null http://www.ebi.ac.uk/efo/EFO_0001347 node CL_0002248 pluripotent stem cell null http://purl.obolibrary.org/obo/CL_0002248 node Orphanet_93593 Nephropathy secondary to a storage or other metabolic disease null http://www.orpha.net/ORDO/Orphanet_93593 node EFO_1000976 hypertensive encephalopathy null http://www.ebi.ac.uk/efo/EFO_1000976 node Orphanet_659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques null http://www.orpha.net/ORDO/Orphanet_659 node NCBITaxon_2173 Methanobrevibacter smithii null http://purl.obolibrary.org/obo/NCBITaxon_2173 node EFO_0002837 MS428 null http://www.ebi.ac.uk/efo/EFO_0002837 node Orphanet_289841 Disorder of glutamine metabolism null http://www.orpha.net/ORDO/Orphanet_289841 node EFO_0008233 MHC class I polypeptide-related sequence A measurement null http://www.ebi.ac.uk/efo/EFO_0008233 node Orphanet_309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes null http://www.orpha.net/ORDO/Orphanet_309136 node Orphanet_254807 Multiple mitochondrial DNA deletion syndrome null http://www.orpha.net/ORDO/Orphanet_254807 node EFO_0008046 C-C motif chemokine 18 measurement null http://www.ebi.ac.uk/efo/EFO_0008046 node GO_0009205 purine ribonucleoside triphosphate metabolic process null http://purl.obolibrary.org/obo/GO_0009205 node Orphanet_248401 Rare thrombotic disorder due to a constitutional platelet anomaly null http://www.orpha.net/ORDO/Orphanet_248401 node EFO_0002760 ChIP-chip by array null http://www.ebi.ac.uk/efo/EFO_0002760 node EFO_1001981 Aminoacylase 1 deficiency null http://www.ebi.ac.uk/efo/EFO_1001981 node EFO_0007505 tabes dorsalis null http://www.ebi.ac.uk/efo/EFO_0007505 node Orphanet_309001 Disorder of carbohydrate absorption and transport null http://www.orpha.net/ORDO/Orphanet_309001 node EFO_0009228 Reticulocyte Corpuscular Hemoglobin Concentration Mean null http://www.ebi.ac.uk/efo/EFO_0009228 node NCBITaxon_2261 Pyrococcus furiosus null http://purl.obolibrary.org/obo/NCBITaxon_2261 node EFO_0002925 ENCODE functional genome mapping null http://www.ebi.ac.uk/efo/EFO_0002925 node EFO_0004167 RAPD null http://www.ebi.ac.uk/efo/EFO_0004167 node UBERON_0012170 core of nucleus accumbens null http://purl.obolibrary.org/obo/UBERON_0012170 node EFO_0008134 ficolin-1 measurement null http://www.ebi.ac.uk/efo/EFO_0008134 node NCBITaxon_81845 Trichophyton terrestre null http://purl.obolibrary.org/obo/NCBITaxon_81845 node EFO_0000675 obsolete_protocol factor synonymous with protocol http://www.ebi.ac.uk/efo/EFO_0000675 node EFO_1001366 Mastodynia null http://www.ebi.ac.uk/efo/EFO_1001366 node Orphanet_93601 Xanthinuria type I null http://www.orpha.net/ORDO/Orphanet_93601 node EFO_0004869 YKL40 measurement null http://www.ebi.ac.uk/efo/EFO_0004869 node Orphanet_3362 Trichomegaly - cataract - hereditary spherocytosis null http://www.orpha.net/ORDO/Orphanet_3362 node EFO_1001179 sialadenitis Editor note: TODO check NCIT mapping http://www.ebi.ac.uk/efo/EFO_1001179 node EFO_0000979 obsolete_cervix null http://www.ebi.ac.uk/efo/EFO_0000979 node PO_0030015 sporophyte meristematic apical cell Occurs in pteridophytes and the sporophyte of bryophytes. http://purl.obolibrary.org/obo/PO_0030015 node MONDO_0015446 atypical coarctation of aorta null http://purl.obolibrary.org/obo/MONDO_0015446 node HP_0002068 Neuromuscular dysphagia null http://purl.obolibrary.org/obo/HP_0002068 node CHEBI_16831 3-hydroxy-3-methylglutaric acid null http://purl.obolibrary.org/obo/CHEBI_16831 node Orphanet_261786 Partial deletion of chromosome 5 null http://www.orpha.net/ORDO/Orphanet_261786 node Orphanet_168572 Native American myopathy null http://www.orpha.net/ORDO/Orphanet_168572 node EFO_0005170 Bur-0 null http://www.ebi.ac.uk/efo/EFO_0005170 node GO_0031969 chloroplast membrane null http://purl.obolibrary.org/obo/GO_0031969 node EFO_0009073 methylmalonic aciduria (cobalamin deficiency) cblA type null http://www.ebi.ac.uk/efo/EFO_0009073 node EFO_0004068 DF5033 null http://www.ebi.ac.uk/efo/EFO_0004068 node Orphanet_99701 Mesial temporal lobe epilepsy with hippocampal sclerosis null http://www.orpha.net/ORDO/Orphanet_99701 node EFO_0000763 viral disease null http://www.ebi.ac.uk/efo/EFO_0000763 node HANCESTRO_0462 British null http://purl.obolibrary.org/obo/HANCESTRO_0462 node MONDO_0054748 Fanconi anemia, complementation group S null http://purl.obolibrary.org/obo/MONDO_0054748 node EFO_0000586 mesenchymal stem cell null http://www.ebi.ac.uk/efo/EFO_0000586 node EFO_0000600 129X1/SvJ null http://www.ebi.ac.uk/efo/EFO_0000600 node GO_0009145 purine nucleoside triphosphate biosynthetic process null http://purl.obolibrary.org/obo/GO_0009145 node EFO_1001267 Aortic Coarctation null http://www.ebi.ac.uk/efo/EFO_1001267 node EFO_0004313 maximal midexpiratory flow rate null http://www.ebi.ac.uk/efo/EFO_0004313 node CHEBI_36261 taurodeoxycholate null http://purl.obolibrary.org/obo/CHEBI_36261 node Orphanet_90796 46,XY disorder of sex development due to isolated 17,20 lyase deficiency null http://www.orpha.net/ORDO/Orphanet_90796 node EFO_0005697 M059J null http://www.ebi.ac.uk/efo/EFO_0005697 node Orphanet_262716 Partial duplication of the short arm of chromosome 4 null http://www.orpha.net/ORDO/Orphanet_262716 node EFO_0009161 debrisoquine, poor metabolism of null http://www.ebi.ac.uk/efo/EFO_0009161 node MONDO_0021656 nongerminomatous germ cell tumor null http://purl.obolibrary.org/obo/MONDO_0021656 node NCBITaxon_228457 Laternula elliptica null http://purl.obolibrary.org/obo/NCBITaxon_228457 node EFO_0003128 HCC1359 null http://www.ebi.ac.uk/efo/EFO_0003128 node NCBITaxon_294748 Candida albicans WO-1 null http://purl.obolibrary.org/obo/NCBITaxon_294748 node CHEBI_6030 isoniazide null http://purl.obolibrary.org/obo/CHEBI_6030 node Orphanet_101960 Genetic chronic primary adrenal insufficiency null http://www.orpha.net/ORDO/Orphanet_101960 node EFO_0006759 SNU-668 null http://www.ebi.ac.uk/efo/EFO_0006759 node GO_0001775 cell activation null http://purl.obolibrary.org/obo/GO_0001775 node MONDO_0015141 disorder of medulla oblongata null http://purl.obolibrary.org/obo/MONDO_0015141 node EFO_0004401 Theiler stage 9 null http://www.ebi.ac.uk/efo/EFO_0004401 node MONDO_0007899 lichen sclerosus et atrophicus null http://purl.obolibrary.org/obo/MONDO_0007899 node Orphanet_306734 Primary dystonia, DYT21 type null http://www.orpha.net/ORDO/Orphanet_306734 node EFO_0010424 triacylglycerol 54:6 measurement null http://www.ebi.ac.uk/efo/EFO_0010424 node Orphanet_32960 Tumor necrosis factor receptor 1 associated periodic syndrome null http://www.orpha.net/ORDO/Orphanet_32960 node EFO_0004214 Abdominal Aortic Aneurysm null http://www.ebi.ac.uk/efo/EFO_0004214 node UO_0000275 nanogram per milliliter null http://purl.obolibrary.org/obo/UO_0000275 node UBERON_2000120 lateral line ganglion null http://purl.obolibrary.org/obo/UBERON_2000120 node MONDO_0044324 Al Kaissi syndrome null http://purl.obolibrary.org/obo/MONDO_0044324 node EFO_0007951 hFib2-iPS4 null http://www.ebi.ac.uk/efo/EFO_0007951 node Orphanet_1658 Absence of fingerprints - congenital milia null http://www.orpha.net/ORDO/Orphanet_1658 node EFO_0006366 CAL 27 null http://www.ebi.ac.uk/efo/EFO_0006366 node EFO_1001918 specific phobia null http://www.ebi.ac.uk/efo/EFO_1001918 node NCBITaxon_4113 Solanum tuberosum null http://purl.obolibrary.org/obo/NCBITaxon_4113 node EFO_0010031 BAsE-Seq null http://www.ebi.ac.uk/efo/EFO_0010031 node EFO_0010512 nucleoside measurement null http://www.ebi.ac.uk/efo/EFO_0010512 node EFO_0001100 CAMA1 null http://www.ebi.ac.uk/efo/EFO_0001100 node GO_0042592 homeostatic process null http://purl.obolibrary.org/obo/GO_0042592 node EFO_0010359 lysophosphatidylcholine 18:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010359 node MONDO_0024470 benign chondrogenic neoplasm null http://purl.obolibrary.org/obo/MONDO_0024470 node Orphanet_98955 Lisch epithelial corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98955 node CHEBI_29321 sodium nitroprusside null http://purl.obolibrary.org/obo/CHEBI_29321 node EFO_1000117 Benign Ovarian Surface Epithelial-Stromal Tumor null http://www.ebi.ac.uk/efo/EFO_1000117 node CHEBI_17443 L-homocitrulline null http://purl.obolibrary.org/obo/CHEBI_17443 node MONDO_0007290 cataract 5 multiple types null http://purl.obolibrary.org/obo/MONDO_0007290 node EFO_0006454 MDA-MB-330 null http://www.ebi.ac.uk/efo/EFO_0006454 node GO_0007600 sensory perception null http://purl.obolibrary.org/obo/GO_0007600 node EFO_0006267 obsolete_90-8TL null http://www.ebi.ac.uk/efo/EFO_0006267 node MONDO_0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant null http://purl.obolibrary.org/obo/MONDO_0007509 node Orphanet_2723 Odontotrichomelic syndrome null http://www.orpha.net/ORDO/Orphanet_2723 node Orphanet_71277 Encephalopathy due to GLUT1 deficiency null http://www.orpha.net/ORDO/Orphanet_71277 node EFO_0005081 surfactant protein D measurement null http://www.ebi.ac.uk/efo/EFO_0005081 node UBERON_0002012 pulmonary artery null http://purl.obolibrary.org/obo/UBERON_0002012 node Orphanet_247709 Multiple endocrine neoplasia type 2B null http://www.orpha.net/ORDO/Orphanet_247709 node Orphanet_370953 Congenital muscular dystrophy due to dystroglycanopathy null http://www.orpha.net/ORDO/Orphanet_370953 node GO_0012511 monolayer-surrounded lipid storage body null http://purl.obolibrary.org/obo/GO_0012511 node Orphanet_91496 Snowflake vitreoretinal degeneration null http://www.orpha.net/ORDO/Orphanet_91496 node Orphanet_79161 Disorder of carbohydrate metabolism null http://www.orpha.net/ORDO/Orphanet_79161 node Orphanet_98362 Constitutional sideroblastic anemia We are pretty sure Orphanet means inherited/hereditary. This was renamed from constitutional sideroblastic anemia. http://www.orpha.net/ORDO/Orphanet_98362 node NCBITaxon_329 Ralstonia pickettii null http://purl.obolibrary.org/obo/NCBITaxon_329 node CL_0002413 mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte null http://purl.obolibrary.org/obo/CL_0002413 node Orphanet_325665 Genetic disorder of sex development of gynecological interest null http://www.orpha.net/ORDO/Orphanet_325665 node EFO_1000451 Papillary Tumor of the Pineal Region null http://www.ebi.ac.uk/efo/EFO_1000451 node EFO_0009789 encounter with health service related to previous surgical history null http://www.ebi.ac.uk/efo/EFO_0009789 node MONDO_0003668 extragonadal seminoma null http://purl.obolibrary.org/obo/MONDO_0003668 node CL_0002027 CD9-positive, CD41-positive megakaryocyte cell Markers are commonly associated with mouse cells. http://purl.obolibrary.org/obo/CL_0002027 node EFO_0004881 asparaginase hypersensitivity null http://www.ebi.ac.uk/efo/EFO_0004881 node MONDO_0019439 AA amyloidosis null http://purl.obolibrary.org/obo/MONDO_0019439 node CHEBI_37671 (1->3)-beta-D-glucan null http://purl.obolibrary.org/obo/CHEBI_37671 node MONDO_0016767 cutaneous lichen planus null http://purl.obolibrary.org/obo/MONDO_0016767 node Orphanet_90340 Blau syndrome null http://www.orpha.net/ORDO/Orphanet_90340 node Orphanet_371364 Hypotonia-speech impairment-severe cognitive delay syndrome null http://www.orpha.net/ORDO/Orphanet_371364 node EFO_0009092 breast milk measurement null http://www.ebi.ac.uk/efo/EFO_0009092 node EFO_0002135 COLO201 null http://www.ebi.ac.uk/efo/EFO_0002135 node MONDO_0000156 trigonocephaly null http://purl.obolibrary.org/obo/MONDO_0000156 node EFO_0001208 MDAMB175VII null http://www.ebi.ac.uk/efo/EFO_0001208 node EFO_0008646 4sUDRB-seq null http://www.ebi.ac.uk/efo/EFO_0008646 node MONDO_0003275 middle ear cancer null http://purl.obolibrary.org/obo/MONDO_0003275 node MONDO_0003756 ovarian mucinous neoplasm null http://purl.obolibrary.org/obo/MONDO_0003756 node EFO_0009877 decreased bone mass null http://www.ebi.ac.uk/efo/EFO_0009877 node Orphanet_792 X-linked retinoschisis null http://www.orpha.net/ORDO/Orphanet_792 node CLO_0015088 GM17136 null http://purl.obolibrary.org/obo/CLO_0015088 node EFO_0008235 monocyte chemotactic protein 3 measurement null http://www.ebi.ac.uk/efo/EFO_0008235 node HP_0100014 Epiretinal membrane null http://purl.obolibrary.org/obo/HP_0100014 node CL_1000497 kidney cell null http://purl.obolibrary.org/obo/CL_1000497 node EFO_0008048 C-C motif chemokine 21 measurement null http://www.ebi.ac.uk/efo/EFO_0008048 node MONDO_0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome null http://purl.obolibrary.org/obo/MONDO_0014757 node EFO_0002223 KYSE30 null http://www.ebi.ac.uk/efo/EFO_0002223 node EFO_0010676 cornea transplantation null http://www.ebi.ac.uk/efo/EFO_0010676 node EFO_0008529 kynurenine measurement null http://www.ebi.ac.uk/efo/EFO_0008529 node EFO_0004570 bilirubin measurement null http://www.ebi.ac.uk/efo/EFO_0004570 node MONDO_0003363 malignant dermis tumor null http://purl.obolibrary.org/obo/MONDO_0003363 node Orphanet_183595 Genetic renal tumor null http://www.orpha.net/ORDO/Orphanet_183595 node CHEBI_42191 ethylenediaminetetraacetic acid null http://purl.obolibrary.org/obo/CHEBI_42191 node EFO_0002621 prostate intraepithelial neoplasia null http://www.ebi.ac.uk/efo/EFO_0002621 node Orphanet_83642 Microcytic anemia with liver iron overload null http://www.orpha.net/ORDO/Orphanet_83642 node Orphanet_404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency null http://www.orpha.net/ORDO/Orphanet_404493 node Orphanet_93974 Smith-Fineman-Myers syndrome null http://www.orpha.net/ORDO/Orphanet_93974 node HP_0002714 Downturned corners of mouth This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms). http://purl.obolibrary.org/obo/HP_0002714 node NCBITaxon_31537 Lactococcus phage c2 null http://purl.obolibrary.org/obo/NCBITaxon_31537 node EFO_1000186 Colon Mucosa-Associated Lymphoid Tissue Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000186 node EFO_1000667 adiposis dolorosa null http://www.ebi.ac.uk/efo/EFO_1000667 node ZFA_0000669 head kidney null http://purl.obolibrary.org/obo/ZFA_0000669 node EFO_0003689 obsolete_pharyngeal arch cartilage null http://www.ebi.ac.uk/efo/EFO_0003689 node EFO_0008136 galactoside 34-L-fucosyltransferase measurement null http://www.ebi.ac.uk/efo/EFO_0008136 node EFO_0010764 caspase-8 measurement null http://www.ebi.ac.uk/efo/EFO_0010764 node Orphanet_183478 Genetic skin vascular disorder null http://www.orpha.net/ORDO/Orphanet_183478 node EFO_0003073 asymptomatic myeloma null http://www.ebi.ac.uk/efo/EFO_0003073 node EFO_0000156 CS57883 null http://www.ebi.ac.uk/efo/EFO_0000156 node MONDO_0004857 tendinitis null http://purl.obolibrary.org/obo/MONDO_0004857 node Orphanet_293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form null http://www.orpha.net/ORDO/Orphanet_293910 node NCBITaxon_294 Pseudomonas fluorescens null http://purl.obolibrary.org/obo/NCBITaxon_294 node CHEBI_29655 neocarzinostatin chromophore null http://purl.obolibrary.org/obo/CHEBI_29655 node NCBITaxon_77009 Hordeum vulgare subsp. spontaneum null http://purl.obolibrary.org/obo/NCBITaxon_77009 node EFO_1000274 Gastric Mucosa-Associated Lymphoid Tissue Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000274 node HP_0011344 Severe global developmental delay null http://purl.obolibrary.org/obo/HP_0011344 node EFO_0003777 heart disease null http://www.ebi.ac.uk/efo/EFO_0003777 node Orphanet_399081 KLHL9-related childhood-onset distal myopathy null http://www.orpha.net/ORDO/Orphanet_399081 node EFO_0010371 lysophosphatidylethanolamine 22:6 measurement null http://www.ebi.ac.uk/efo/EFO_0010371 node MONDO_0020642 polycystic kidney disease null http://purl.obolibrary.org/obo/MONDO_0020642 node EFO_0010852 HG02870 null http://www.ebi.ac.uk/efo/EFO_0010852 node EFO_1000568 Testicular Large Cell Calcifying Sertoli Cell Tumor null http://www.ebi.ac.uk/efo/EFO_1000568 node OBI_0200006 biexponential transformation null http://purl.obolibrary.org/obo/OBI_0200006 node Orphanet_247820 Ectodermal dysplasia - syndactyly syndrome null http://www.orpha.net/ORDO/Orphanet_247820 node Orphanet_320346 Pure or complex autosomal recessive spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_320346 node EFO_0000039 CS57622 null http://www.ebi.ac.uk/efo/EFO_0000039 node EFO_0005337 GM12864 null http://www.ebi.ac.uk/efo/EFO_0005337 node EFO_0006924 household air pollution measurement null http://www.ebi.ac.uk/efo/EFO_0006924 node NCBITaxon_382 Sinorhizobium meliloti null http://purl.obolibrary.org/obo/NCBITaxon_382 node Orphanet_364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments null http://www.orpha.net/ORDO/Orphanet_364531 node Orphanet_300179 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type null http://www.orpha.net/ORDO/Orphanet_300179 node Orphanet_2997 Ptosis - vocal cord paralysis null http://www.orpha.net/ORDO/Orphanet_2997 node NCBITaxon_9049 Pavo cristatus null http://purl.obolibrary.org/obo/NCBITaxon_9049 node EFO_0000447 embryonic central nervous system null http://www.ebi.ac.uk/efo/EFO_0000447 node CLO_0016567 GM17745 null http://purl.obolibrary.org/obo/CLO_0016567 node Orphanet_1349 Maternally-inherited cardiomyopathy and hearing loss null http://www.orpha.net/ORDO/Orphanet_1349 node EFO_1001128 Rickettsiaceae infectious disease null http://www.ebi.ac.uk/efo/EFO_1001128 node NCBITaxon_195 Campylobacter coli null http://purl.obolibrary.org/obo/NCBITaxon_195 node MONDO_0021199 disease by anatomical system null http://purl.obolibrary.org/obo/MONDO_0021199 node EFO_1000362 Malignant Pleural Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000362 node MONDO_0020069 chronic encephalitis null http://purl.obolibrary.org/obo/MONDO_0020069 node EFO_0005558 hemolytic anemia null http://www.ebi.ac.uk/efo/EFO_0005558 node MONDO_0021658 vascular ectasia null http://purl.obolibrary.org/obo/MONDO_0021658 node EFO_0010917 kidney injury molecule 1 measurement null http://www.ebi.ac.uk/efo/EFO_0010917 node CL_0000815 regulatory T cell This cell type may express FoxP3 and CD25 and secretes IL-10 and TGF-beta. http://purl.obolibrary.org/obo/CL_0000815 node CLO_0014026 GM17173 null http://purl.obolibrary.org/obo/CLO_0014026 node EFO_0000127 CS57813 null http://www.ebi.ac.uk/efo/EFO_0000127 node CL_0000628 photosynthetic cell see PMID:21177950, The making of a photosynthetic animal. http://purl.obolibrary.org/obo/CL_0000628 node GO_0048046 apoplast null http://purl.obolibrary.org/obo/GO_0048046 node EFO_0001119 GM11831 null http://www.ebi.ac.uk/efo/EFO_0001119 node EFO_0005238 breed null http://www.ebi.ac.uk/efo/EFO_0005238 node EFO_0000535 obsolete_hyperglycemia null http://www.ebi.ac.uk/efo/EFO_0000535 node EFO_1001216 tooth disease null http://www.ebi.ac.uk/efo/EFO_1001216 node CHEBI_5613 haloperidol null http://purl.obolibrary.org/obo/CHEBI_5613 node MONDO_0041086 mixed anxiety and depressive disorder null http://purl.obolibrary.org/obo/MONDO_0041086 node EFO_0000348 clear cell adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0000348 node MONDO_0024489 general tumor grading characteristic null http://purl.obolibrary.org/obo/MONDO_0024489 node EFO_0005646 ATC Code S Sensory organs S SENSORY ORGANS A formulation approved both for use in the eye/ear is classified in S03, while formulations only licensed for use in the eye or the ear are classified in S01 and S02, respectively. S01 OPHTHALMOLOGICALS Small amounts of antiseptics in eye preparations do not influence the classification, e.g. benzalconium. See also S03 - Ophthalmological and otological preparations. DDDs have been assigned for antiglaucoma preparations only. S02 OTOLOGICALS Small amounts of antiseptics in otological preparations do not influence the classification, e.g. benzalconium. See also S03 - Ophthalmological and otological preparations. No DDDs are assigned in this group. S03 OPHTHALMOLOGICAL AND OTOLOGICAL PREPARATIONS This group comprises preparations which can be used in both eye and ear. Small amounts of antiseptics (e.g. benzalconium) in eye/ear preparations do not influence the classification. No DDDs are assigned in this group. http://www.ebi.ac.uk/efo/EFO_0005646 node EFO_0004719 pemphigus vulgaris Editor note: check familial vs acquired http://www.ebi.ac.uk/efo/EFO_0004719 node EFO_0008492 breast hyperplasia null http://www.ebi.ac.uk/efo/EFO_0008492 node Orphanet_96101 Distal trisomy 9q null http://www.orpha.net/ORDO/Orphanet_96101 node EFO_1001029 magnesium deficiency null http://www.ebi.ac.uk/efo/EFO_1001029 node CHEBI_32120 sapropterin dihydrochloride null http://purl.obolibrary.org/obo/CHEBI_32120 node EFO_0005459 obsolete_SK-N-F1 null http://www.ebi.ac.uk/efo/EFO_0005459 node CL_0000235 macrophage Morphology: Diameter 30_M-80 _M, abundant cytoplasm, low N/C ratio, eccentric nucleus. Irregular shape with pseudopods, highly adhesive. Contain vacuoles and phagosomes, may contain azurophilic granules; markers: Mouse & Human: CD68, in most cases CD11b. Mouse: in most cases F4/80+; role or process: immune, antigen presentation, & tissue remodelling; lineage: hematopoietic, myeloid. http://purl.obolibrary.org/obo/CL_0000235 node MONDO_0015119 bronchopulmonary tumor null http://purl.obolibrary.org/obo/MONDO_0015119 node MONDO_0002537 inverted papilloma null http://purl.obolibrary.org/obo/MONDO_0002537 node MONDO_0001566 hypercalcemia disease null http://purl.obolibrary.org/obo/MONDO_0001566 node MONDO_0030033 seizures, early-onset, with neurodegeneration and brain calcifications null http://purl.obolibrary.org/obo/MONDO_0030033 node Orphanet_180772 Rare disease with autism null http://www.orpha.net/ORDO/Orphanet_180772 node CHEBI_35493 antipyretic null http://purl.obolibrary.org/obo/CHEBI_35493 node HP_0001869 Deep plantar creases null http://purl.obolibrary.org/obo/HP_0001869 node Orphanet_90646 Deafness - hypogonadism null http://www.orpha.net/ORDO/Orphanet_90646 node EFO_0009879 gastric hemorrhage null http://www.ebi.ac.uk/efo/EFO_0009879 node Orphanet_261243 16p13.11 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_261243 node MONDO_0032895 developmental and epileptic encephalopathy, 83 null http://purl.obolibrary.org/obo/MONDO_0032895 node UBERON_0000934 ventral nerve cord null http://purl.obolibrary.org/obo/UBERON_0000934 node Orphanet_163696 Action myoclonus - renal failure syndrome null http://www.orpha.net/ORDO/Orphanet_163696 node Orphanet_2315 Johanson-Blizzard syndrome null http://www.orpha.net/ORDO/Orphanet_2315 node Orphanet_248111 Juvenile Huntington disease null http://www.orpha.net/ORDO/Orphanet_248111 node EFO_0007699 eye movement measurement null http://www.ebi.ac.uk/efo/EFO_0007699 node NCBITaxon_298378 Fusarium incarnatum null http://purl.obolibrary.org/obo/NCBITaxon_298378 node EFO_0007718 carotid artery stiffness measurement null http://www.ebi.ac.uk/efo/EFO_0007718 node EFO_0002791 HeLa-S3 null http://www.ebi.ac.uk/efo/EFO_0002791 node NCBITaxon_9913 Bos taurus null http://purl.obolibrary.org/obo/NCBITaxon_9913 node HP_0008504 Moderate sensorineural hearing impairment null http://purl.obolibrary.org/obo/HP_0008504 node HP_0000471 Gastrointestinal angiodysplasia null http://purl.obolibrary.org/obo/HP_0000471 node CL_0002104 IgG-negative double negative memory B cell null http://purl.obolibrary.org/obo/CL_0002104 node GO_0044767 single-organism developmental process null http://purl.obolibrary.org/obo/GO_0044767 node HP_0020046 Accommodative esotropia Accommodative esotropia refers to strabismus (cross of the eyes) that occurs with focusing efforts of the eyes. http://purl.obolibrary.org/obo/HP_0020046 node UBERON_0001460 arm null http://purl.obolibrary.org/obo/UBERON_0001460 node Orphanet_702 Pelizaeus-Merzbacher disease null http://www.orpha.net/ORDO/Orphanet_702 node EFO_0008910 SCMDA null http://www.ebi.ac.uk/efo/EFO_0008910 node EFO_0009733 psoriasis-related juvenile idiopathic arthritis null http://www.ebi.ac.uk/efo/EFO_0009733 node EFO_0002856 SCH null http://www.ebi.ac.uk/efo/EFO_0002856 node Orphanet_397695 3q27.3 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_397695 node EFO_0007806 total cholesterol change measurement null http://www.ebi.ac.uk/efo/EFO_0007806 node Orphanet_280333 Autosomal recessive limb-girdle muscular dystrophy type 2P null http://www.orpha.net/ORDO/Orphanet_280333 node Orphanet_98141 Total autosomal monosomy null http://www.orpha.net/ORDO/Orphanet_98141 node EFO_0007060 Weiss grade null http://www.ebi.ac.uk/efo/EFO_0007060 node Orphanet_79163 Classic organic aciduria null http://www.orpha.net/ORDO/Orphanet_79163 node EFO_0007005 free androgen index null http://www.ebi.ac.uk/efo/EFO_0007005 node CHEBI_16675 quinolinic acid null http://purl.obolibrary.org/obo/CHEBI_16675 node Orphanet_99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency Editor note: DO class is more general http://www.orpha.net/ORDO/Orphanet_99732 node Orphanet_603 Distal myopathy, Welander type null http://www.orpha.net/ORDO/Orphanet_603 node EFO_0008811 MiGS null http://www.ebi.ac.uk/efo/EFO_0008811 node MONDO_0020644 lung non-Hodgkin lymphoma null http://purl.obolibrary.org/obo/MONDO_0020644 node Orphanet_314373 Chronic diarrhea due to guanylate cyclase 2C overactivity null http://www.orpha.net/ORDO/Orphanet_314373 node CLO_0035232 AG05416 null http://purl.obolibrary.org/obo/CLO_0035232 node Orphanet_99953 Charcot-Marie-Tooth disease type 4G null http://www.orpha.net/ORDO/Orphanet_99953 node Orphanet_156619 Rare genetic urogenital disease null http://www.orpha.net/ORDO/Orphanet_156619 node EFO_0009187 immature platelet fraction null http://www.ebi.ac.uk/efo/EFO_0009187 node UO_0000200 cell concentration unit null http://purl.obolibrary.org/obo/UO_0000200 node CHEBI_16763 2-oxobutanoate null http://purl.obolibrary.org/obo/CHEBI_16763 node EFO_1001772 Central Cord Syndrome null http://www.ebi.ac.uk/efo/EFO_1001772 node HP_0005616 Accelerated skeletal maturation null http://purl.obolibrary.org/obo/HP_0005616 node EFO_0003159 obsolete_European-American null http://www.ebi.ac.uk/efo/EFO_0003159 node Orphanet_306539 Hereditary acrokeratotic poikiloderma of Kindler-Weary null http://www.orpha.net/ORDO/Orphanet_306539 node EFO_0000420 obsolete_dorsal mesothoracic disc null http://www.ebi.ac.uk/efo/EFO_0000420 node MONDO_0020732 progeria null http://purl.obolibrary.org/obo/MONDO_0020732 node MONDO_0016628 hemorrhagic disorder due to a coagulation factors defect null http://purl.obolibrary.org/obo/MONDO_0016628 node EFO_0000901 obsolete_body ganglion null http://www.ebi.ac.uk/efo/EFO_0000901 node EFO_1001101 periventricular leukomalacia null http://www.ebi.ac.uk/efo/EFO_1001101 node UBERON_0000065 respiratory tract null http://purl.obolibrary.org/obo/UBERON_0000065 node Orphanet_262968 Partial duplication of the long arm of chromosome 17 null http://www.orpha.net/ORDO/Orphanet_262968 node EFO_0000714 survival time null http://www.ebi.ac.uk/efo/EFO_0000714 node EFO_1001405 obsolete_Postthrombotic Syndrome null http://www.ebi.ac.uk/efo/EFO_1001405 node UBERON_6001059 visual primordium null http://purl.obolibrary.org/obo/UBERON_6001059 node EFO_0004427 joule per square centimeter null http://www.ebi.ac.uk/efo/EFO_0004427 node EFO_0002529 INS-1 null http://www.ebi.ac.uk/efo/EFO_0002529 node EFO_0000537 hypertension null http://www.ebi.ac.uk/efo/EFO_0000537 node EFO_0004908 testosterone measurement null http://www.ebi.ac.uk/efo/EFO_0004908 node EFO_1001218 tricuspid valve prolapse null http://www.ebi.ac.uk/efo/EFO_1001218 node MONDO_0014349 pontocerebellar hypoplasia type 10 null http://purl.obolibrary.org/obo/MONDO_0014349 node EFO_1000832 Bacteroides infectious disease null http://www.ebi.ac.uk/efo/EFO_1000832 node Orphanet_1361 Carnosinemia null http://www.orpha.net/ORDO/Orphanet_1361 node CL_0000990 conventional dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000003)(PMID:19243617) These cells are also CD20-negative, MHCII-positive. http://purl.obolibrary.org/obo/CL_0000990 node MONDO_0004566 postgastrectomy syndrome null http://purl.obolibrary.org/obo/MONDO_0004566 node HP_0011198 EEG with generalized epileptiform discharges Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. http://purl.obolibrary.org/obo/HP_0011198 node Orphanet_95488 Non-acquired pituitary hormone deficiency Editor note: consider merging with familial hypopituitarism http://www.orpha.net/ORDO/Orphanet_95488 node EFO_0007977 nervonic acid measurement null http://www.ebi.ac.uk/efo/EFO_0007977 node EFO_0004572 C4BP measurement null http://www.ebi.ac.uk/efo/EFO_0004572 node EFO_0000802 obsolete_nervous system null http://www.ebi.ac.uk/efo/EFO_0000802 node Orphanet_281127 Acral self-healing collodion baby null http://www.orpha.net/ORDO/Orphanet_281127 node EFO_0003468 obsolete_fin bud null http://www.ebi.ac.uk/efo/EFO_0003468 node EFO_0004515 muscle measurement null http://www.ebi.ac.uk/efo/EFO_0004515 node EFO_0010062 response to salmeterol null http://www.ebi.ac.uk/efo/EFO_0010062 node Orphanet_262869 Partial trisomy of the long arm of chromosome 5 null http://www.orpha.net/ORDO/Orphanet_262869 node EFO_1001306 Diarrhea, Infantile null http://www.ebi.ac.uk/efo/EFO_1001306 node Orphanet_295026 Congenital pseudoarthrosis of the ulna null http://www.orpha.net/ORDO/Orphanet_295026 node EFO_1000920 endometrial stromal tumor null http://www.ebi.ac.uk/efo/EFO_1000920 node EFO_0003942 Xenograft null http://www.ebi.ac.uk/efo/EFO_0003942 node HP_0008994 Proximal muscle weakness in lower limbs null http://purl.obolibrary.org/obo/HP_0008994 node UBERON_0002137 aortic valve Human variation: It is normally tricuspid (with three leaflets), although in 1% of the population it is found to be congenitally bicuspid (two leaflets) http://purl.obolibrary.org/obo/UBERON_0002137 node NCBITaxon_136217 Curcuma longa null http://purl.obolibrary.org/obo/NCBITaxon_136217 node MONDO_0060729 protoporphyria, erythropoietic, 2 null http://purl.obolibrary.org/obo/MONDO_0060729 node EFO_0004097 MAGE-TAB array data matrix file null http://www.ebi.ac.uk/efo/EFO_0004097 node CHEBI_7916 pantothenic acid null http://purl.obolibrary.org/obo/CHEBI_7916 node MONDO_0000359 spondylocostal dysostosis Most times, spondylocostal dysplasia is inherited in an autosomal recessive manner and is caused by a change (mutation) in one of four genes, DLL3, MESP2, LFNG, HES7. Rarely, spondylocostal dysplasia can be inherited in an autosomal dominant manner. One gene, TBX6, is known to cause autosomal dominant spondylocostal dysplasia. There is significant confusion in the medical literature regarding names for spondylocostal dysplasia. For years, this disorder and a similar disorder, spondylothoracic dysplasia, were considered the same disorder and referred to as Jarcho-Levin syndrome. Researchers now know that these disorders are separate entities with different causes and associated malformations. http://purl.obolibrary.org/obo/MONDO_0000359 node EFO_0005502 late cleavage stage embryo Ce null http://www.ebi.ac.uk/efo/EFO_0005502 node EFO_0003075 xanthoma null http://www.ebi.ac.uk/efo/EFO_0003075 node Orphanet_101957 Pituitary deficiency Editor note: in ORDO, Orphanet:101957 is classified as genetic, yet has acquired subtypes http://www.orpha.net/ORDO/Orphanet_101957 node EFO_0007888 age at voice drop null http://www.ebi.ac.uk/efo/EFO_0007888 node EFO_0010150 anti-anoctamin 2 antibody measurement null http://www.ebi.ac.uk/efo/EFO_0010150 node CHEBI_31899 nemonapride null http://purl.obolibrary.org/obo/CHEBI_31899 node HP_0030151 Cholangitis Cholangitis is characterized by biliary epithelial damage with inflammatory cell infiltration. Some cholangitis is also associated with ductal and periductal fibrosis. http://purl.obolibrary.org/obo/HP_0030151 node Orphanet_1514 Craniodigital syndrome - intellectual disability null http://www.orpha.net/ORDO/Orphanet_1514 node EFO_0005723 GM23248 null http://www.ebi.ac.uk/efo/EFO_0005723 node UBERON_0004152 bulbus arteriosus null http://purl.obolibrary.org/obo/UBERON_0004152 node OBI_0400111 hybridization station null http://purl.obolibrary.org/obo/OBI_0400111 node MONDO_0001374 bladder sarcoma null http://purl.obolibrary.org/obo/MONDO_0001374 node MONDO_0000447 autosomal dominant polycystic liver disease null http://purl.obolibrary.org/obo/MONDO_0000447 node EFO_0010215 oligo-dT null http://www.ebi.ac.uk/efo/EFO_0010215 node CL_0002356 primitive reticulocyte null http://purl.obolibrary.org/obo/CL_0002356 node HP_0011024 Abnormality of the gastrointestinal tract null http://purl.obolibrary.org/obo/HP_0011024 node MONDO_0024654 skull disorder null http://purl.obolibrary.org/obo/MONDO_0024654 node Orphanet_210122 Congenital alveolar capillary dysplasia Editor note: MESH and NCIT split this, see NCIT:C98809 http://www.orpha.net/ORDO/Orphanet_210122 node PO_0007026 FL.00 first flower(s) open stage null http://purl.obolibrary.org/obo/PO_0007026 node EFO_0009934 Immunosuppressant use measurement null http://www.ebi.ac.uk/efo/EFO_0009934 node EFO_0005121 freeze dried specimen null http://www.ebi.ac.uk/efo/EFO_0005121 node EFO_0007555 high content screening stage null http://www.ebi.ac.uk/efo/EFO_0007555 node EFO_0006732 pancreatic adenosquamous carcinoma null http://www.ebi.ac.uk/efo/EFO_0006732 node NCBITaxon_72036 Lepeophtheirus salmonis null http://purl.obolibrary.org/obo/NCBITaxon_72036 node Orphanet_200421 Immunodeficiency with factor H anomaly null http://www.orpha.net/ORDO/Orphanet_200421 node MONDO_0013618 craniofacial anomalies and anterior segment dysgenesis syndrome null http://purl.obolibrary.org/obo/MONDO_0013618 node Orphanet_261801 Partial deletion of chromosome 8 null http://www.orpha.net/ORDO/Orphanet_261801 node HP_0000490 Deeply set eye This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer. http://purl.obolibrary.org/obo/HP_0000490 node CL_0002444 Ly49H-positive natural killer cell, mouse null http://purl.obolibrary.org/obo/CL_0002444 node GO_0048731 system development null http://purl.obolibrary.org/obo/GO_0048731 node EFO_0006820 complicated disease course null http://www.ebi.ac.uk/efo/EFO_0006820 node EFO_1001885 diffuse alveolar-septal amyloidosis null http://www.ebi.ac.uk/efo/EFO_1001885 node EFO_0006633 KYSE-70 null http://www.ebi.ac.uk/efo/EFO_0006633 node NCBITaxon_346187 Teleopsis thaii null http://purl.obolibrary.org/obo/NCBITaxon_346187 node HP_0000876 Oligomenorrhea null http://purl.obolibrary.org/obo/HP_0000876 node Orphanet_158266 Huntington disease-like syndrome null http://www.orpha.net/ORDO/Orphanet_158266 node EFO_0006456 MS751 null http://www.ebi.ac.uk/efo/EFO_0006456 node Orphanet_169186 Autosomal recessive centronuclear myopathy null http://www.orpha.net/ORDO/Orphanet_169186 node CHEBI_75568 1-monolinolein null http://purl.obolibrary.org/obo/CHEBI_75568 node Orphanet_255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy null http://www.orpha.net/ORDO/Orphanet_255235 node EFO_1001492 atrophic macular degeneration null http://www.ebi.ac.uk/efo/EFO_1001492 node GO_0009165 nucleotide biosynthetic process null http://purl.obolibrary.org/obo/GO_0009165 node EFO_1001973 ureter urothelial carcinoma null http://www.ebi.ac.uk/efo/EFO_1001973 node Orphanet_79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency null http://www.orpha.net/ORDO/Orphanet_79240 node EFO_0007670 helix rolling null http://www.ebi.ac.uk/efo/EFO_0007670 node MONDO_0003168 cerebellar pilocytic astrocytoma null http://purl.obolibrary.org/obo/MONDO_0003168 node Orphanet_3266 Humero-radio-ulnar synostosis null http://www.orpha.net/ORDO/Orphanet_3266 node HP_0004763 Paroxysmal supraventricular tachycardia PSVT is a term used to denote intermittent supraventricular tachycardia other than atrial fibrillation, atrial flutter and multifocal atrial tachycardia (AT). The major causes are atrioventricular reentrant tachycardia (AVNRT), atrioventricular reentrant tachycardia (AVRT), and sinoatrial node reentrant tachycardia (SNRT). http://purl.obolibrary.org/obo/HP_0004763 node Orphanet_66634 Dilated cardiomyopathy with ataxia null http://www.orpha.net/ORDO/Orphanet_66634 node Orphanet_181422 Rare hyperlipidemia null http://www.orpha.net/ORDO/Orphanet_181422 node EFO_0009230 Reticulocyte Corpuscular Hemoglobin Distribution Width null http://www.ebi.ac.uk/efo/EFO_0009230 node EFO_0002249 NCI-H1092 null http://www.ebi.ac.uk/efo/EFO_0002249 node EFO_0002380 TANOUE null http://www.ebi.ac.uk/efo/EFO_0002380 node NCBITaxon_9483 Callithrix jacchus null http://purl.obolibrary.org/obo/NCBITaxon_9483 node EFO_0000871 obsolete_lymph null http://www.ebi.ac.uk/efo/EFO_0000871 node MONDO_0002627 chondroblastic osteosarcoma null http://purl.obolibrary.org/obo/MONDO_0002627 node MONDO_0019500 extragonadal teratoma null http://purl.obolibrary.org/obo/MONDO_0019500 node CLO_0019004 GM12264 null http://purl.obolibrary.org/obo/CLO_0019004 node EFO_0009043 Familial porphyria cutanea tarda Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial http://www.ebi.ac.uk/efo/EFO_0009043 node EFO_1001375 Myocardial Ischemia null http://www.ebi.ac.uk/efo/EFO_1001375 node NCBITaxon_9 Buchnera aphidicola null http://purl.obolibrary.org/obo/NCBITaxon_9 node Orphanet_1596 Distal monosomy 15q null http://www.orpha.net/ORDO/Orphanet_1596 node EFO_0009451 hypoparathyroidism null http://www.ebi.ac.uk/efo/EFO_0009451 node EFO_0008502 gastric non-cardia carcinoma null http://www.ebi.ac.uk/efo/EFO_0008502 node HP_0002745 Oral leukoplakia The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart. http://purl.obolibrary.org/obo/HP_0002745 node MONDO_0000030 epilepsy, nocturnal frontal lobe null http://purl.obolibrary.org/obo/MONDO_0000030 node EFO_0008349 thiazide-induced hyponatremia null http://www.ebi.ac.uk/efo/EFO_0008349 node Orphanet_3354 Tricho-oculo-dermo-vertebral syndrome null http://www.orpha.net/ORDO/Orphanet_3354 node Orphanet_64754 Nevus comedonicus syndrome null http://www.orpha.net/ORDO/Orphanet_64754 node EFO_0003441 obsolete_presumptive telencephalon null http://www.ebi.ac.uk/efo/EFO_0003441 node Orphanet_70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency null http://www.orpha.net/ORDO/Orphanet_70592 node Orphanet_329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy null http://www.orpha.net/ORDO/Orphanet_329336 node UBERON_0009582 spinal cord lateral wall null http://purl.obolibrary.org/obo/UBERON_0009582 node Orphanet_3167 Siegler-Brewer-Carey syndrome null http://www.orpha.net/ORDO/Orphanet_3167 node EFO_0002337 SKNEP1 null http://www.ebi.ac.uk/efo/EFO_0002337 node EFO_1001181 sigmoid neoplasm Editor note: NCIT uses rectosigmoid as a region http://www.ebi.ac.uk/efo/EFO_1001181 node CLO_0013754 GM17182 null http://purl.obolibrary.org/obo/CLO_0013754 node Orphanet_1380 Cataract - nephropathy - encephalopathy null http://www.orpha.net/ORDO/Orphanet_1380 node Orphanet_281097 Autosomal recessive congenital ichthyosis Editor note: ORDO classifies as non-syndromic but syndromic forms exist http://www.orpha.net/ORDO/Orphanet_281097 node EFO_0001951 obsolete_inferior parietal lobule null http://www.ebi.ac.uk/efo/EFO_0001951 node EFO_0009131 response to polyunsaturated fatty acid supplementation null http://www.ebi.ac.uk/efo/EFO_0009131 node EFO_1000640 basal ganglia cerebrovascular disease null http://www.ebi.ac.uk/efo/EFO_1000640 node EFO_0010695 elevated lactate dehydrogenase null http://www.ebi.ac.uk/efo/EFO_0010695 node EFO_1001463 gastroenteritis null http://www.ebi.ac.uk/efo/EFO_1001463 node UBERON_0002091 appendicular skeleton null http://purl.obolibrary.org/obo/UBERON_0002091 node EFO_0001764 array platform variation design null http://www.ebi.ac.uk/efo/EFO_0001764 node Orphanet_314679 Cerebro-facio-articular syndrome null http://www.orpha.net/ORDO/Orphanet_314679 node CHEBI_6842 methoxychlor null http://purl.obolibrary.org/obo/CHEBI_6842 node EFO_0008437 early gestational weight gain null http://www.ebi.ac.uk/efo/EFO_0008437 node MONDO_0032910 mitochondrial complex 1 deficiency, nuclear type 34 null http://purl.obolibrary.org/obo/MONDO_0032910 node HP_0002165 Pterygium of nails null http://purl.obolibrary.org/obo/HP_0002165 node MONDO_0002316 motor peripheral neuropathy null http://purl.obolibrary.org/obo/MONDO_0002316 node Orphanet_93383 Brachydactyly type B null http://www.orpha.net/ORDO/Orphanet_93383 node CLO_0031611 GM14520 null http://purl.obolibrary.org/obo/CLO_0031611 node HP_0002094 Dyspnea null http://purl.obolibrary.org/obo/HP_0002094 node HP_0001167 Abnormality of finger null http://purl.obolibrary.org/obo/HP_0001167 node EFO_0010878 HG03378 null http://www.ebi.ac.uk/efo/EFO_0010878 node NCBITaxon_3435 Persea americana null http://purl.obolibrary.org/obo/NCBITaxon_3435 node EFO_0010783 fibroblast growth factor 21 measurement null http://www.ebi.ac.uk/efo/EFO_0010783 node CL_0000096 mature neutrophil Neutrophils are also capable of secreting GRO-alpha, IL-1beta, IL-1ra, IL-3, IL-12, IP-10, MIG, MIP-1alpha, MIP-1beta, TGF-beta, TNF-alpha, VEGF, and anti-microbial peptides. They can positively influence the chemotaxis of basophils, T-cells, monocytes, macrophages, dendritic cells, and other neutrophils. Neutrophils are also CD35-positive, CD64-positive, CD89-positive, CD184-positive, and fMLP receptor-positive Ly-6G-positive (mouse), TLR2-low, TLR4-low, and lineage-negative (CD2, CD3, CD5, CD9, CD19, CD36, CD49d, CD56, CD61, CD235a (glycophorin-A)). http://purl.obolibrary.org/obo/CL_0000096 node EFO_0003750 MBD-seq null http://www.ebi.ac.uk/efo/EFO_0003750 node UBERON_0001151 tail of pancreas null http://purl.obolibrary.org/obo/UBERON_0001151 node EFO_1000541 Soft Tissue Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000541 node HP_0006159 Mesoaxial hand polydactyly null http://purl.obolibrary.org/obo/HP_0006159 node GO_0036287 response to iloperidone null http://purl.obolibrary.org/obo/GO_0036287 node HP_0002253 Colonic diverticula null http://purl.obolibrary.org/obo/HP_0002253 node EFO_0000012 CS57549 null http://www.ebi.ac.uk/efo/EFO_0000012 node EFO_0005310 RIP-seq null http://www.ebi.ac.uk/efo/EFO_0005310 node EFO_1000388 Myelodysplastic/Myeloproliferative Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000388 node HP_0011458 Abdominal symptom null http://purl.obolibrary.org/obo/HP_0011458 node EFO_0001004 pollen tube null http://www.ebi.ac.uk/efo/EFO_0001004 node UBERON_2000728 somite 2 null http://purl.obolibrary.org/obo/UBERON_2000728 node NCBITaxon_38289 Corynebacterium jeikeium null http://purl.obolibrary.org/obo/NCBITaxon_38289 node EFO_0004174 cot filtration for theoretical single copy genomic DNA null http://www.ebi.ac.uk/efo/EFO_0004174 node CL_0000178 Leydig cell Note that the Amphibian Anatomy Ontology (AA) has a class 'leydig cells' but this is unrelated http://purl.obolibrary.org/obo/CL_0000178 node HP_0008277 Abnormal blood zinc concentration null http://purl.obolibrary.org/obo/HP_0008277 node MONDO_0015852 excess breast volume or number null http://purl.obolibrary.org/obo/MONDO_0015852 node EFO_1000130 Bladder Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000130 node EFO_0003633 obsolete_pharyngeal pouch 2 null http://www.ebi.ac.uk/efo/EFO_0003633 node Orphanet_1667 Wolcott-Rallison syndrome null http://www.orpha.net/ORDO/Orphanet_1667 node CHEBI_27345 xylonate null http://purl.obolibrary.org/obo/CHEBI_27345 node UBERON_0001052 rectum null http://purl.obolibrary.org/obo/UBERON_0001052 node NCBITaxon_57045 Salmonella enterica subsp. enterica serovar Paratyphi B null http://purl.obolibrary.org/obo/NCBITaxon_57045 node Orphanet_96194 Paternal uniparental disomy of chromosome 20 null http://www.orpha.net/ORDO/Orphanet_96194 node EFO_0000100 BY5251 null http://www.ebi.ac.uk/efo/EFO_0000100 node CLO_0027328 GM15268 null http://purl.obolibrary.org/obo/CLO_0027328 node MONDO_0017259 systemic diseases with anterior uveitis null http://purl.obolibrary.org/obo/MONDO_0017259 node EFO_1000313 Kidney Cyst null http://www.ebi.ac.uk/efo/EFO_1000313 node EFO_0005211 aspirin hydrolysis measurement null http://www.ebi.ac.uk/efo/EFO_0005211 node EFO_0010368 lysophosphatidylethanolamine 18:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010368 node EFO_0010849 HG02798 null http://www.ebi.ac.uk/efo/EFO_0010849 node EFO_0004262 panic disorder null http://www.ebi.ac.uk/efo/EFO_0004262 node MONDO_0016718 choroid plexus carcinoma null http://purl.obolibrary.org/obo/MONDO_0016718 node HP_0008365 Abnormality of the talus null http://purl.obolibrary.org/obo/HP_0008365 node EFO_0005058 tyrosine measurement null http://www.ebi.ac.uk/efo/EFO_0005058 node CHEBI_42839 3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine null http://purl.obolibrary.org/obo/CHEBI_42839 node NCBITaxon_207559 Desulfovibrio alaskensis G20 null http://purl.obolibrary.org/obo/NCBITaxon_207559 node EFO_0003721 obsolete_liver (Rattus rattus) null http://www.ebi.ac.uk/efo/EFO_0003721 node CHEBI_32372 palmitoleate null http://purl.obolibrary.org/obo/CHEBI_32372 node NCBITaxon_5270 Ustilago maydis null http://purl.obolibrary.org/obo/NCBITaxon_5270 node Orphanet_254886 Autosomal recessive progressive external ophthalmoplegia null http://www.orpha.net/ORDO/Orphanet_254886 node CL_0000968 Be cell null http://purl.obolibrary.org/obo/CL_0000968 node MONDO_0013885 Malan overgrowth syndrome null http://purl.obolibrary.org/obo/MONDO_0013885 node Orphanet_96095 3q26 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_96095 node MONDO_0100148 X-linked complex neurodevelopmental disorder null http://purl.obolibrary.org/obo/MONDO_0100148 node MONDO_0021320 malignant tumor of floor of mouth null http://purl.obolibrary.org/obo/MONDO_0021320 node MONDO_0000612 lymphatic system cancer null http://purl.obolibrary.org/obo/MONDO_0000612 node EFO_0004118 obsolete_factor type flag null http://www.ebi.ac.uk/efo/EFO_0004118 node MONDO_0021143 melanocytic neoplasm null http://purl.obolibrary.org/obo/MONDO_0021143 node Orphanet_262677 Partial duplication of chromosome 17 null http://www.orpha.net/ORDO/Orphanet_262677 node MONDO_0019465 nodal marginal zone B-cell lymphoma null http://purl.obolibrary.org/obo/MONDO_0019465 node Orphanet_2057 Blepharophimosis - ptosis - esotropia - syndactyly - short stature null http://www.orpha.net/ORDO/Orphanet_2057 node Orphanet_207090 Qualitative or quantitative defects of collagen 6 null http://www.orpha.net/ORDO/Orphanet_207090 node NCBITaxon_426430 Staphylococcus aureus subsp. aureus str. Newman null http://purl.obolibrary.org/obo/NCBITaxon_426430 node EFO_0008694 ClickSeq null http://www.ebi.ac.uk/efo/EFO_0008694 node MONDO_0018760 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome null http://purl.obolibrary.org/obo/MONDO_0018760 node CHEBI_29995 aspartate(2-) null http://purl.obolibrary.org/obo/CHEBI_29995 node EFO_0004206 454 GS 20 sequencer null http://www.ebi.ac.uk/efo/EFO_0004206 node MONDO_0021231 retina neoplasm null http://purl.obolibrary.org/obo/MONDO_0021231 node EFO_0007052 antisocial behaviour measurement null http://www.ebi.ac.uk/efo/EFO_0007052 node MONDO_0019072 intrahepatic cholestasis null http://purl.obolibrary.org/obo/MONDO_0019072 node Orphanet_324588 Familial dyskinesia and facial myokymia null http://www.orpha.net/ORDO/Orphanet_324588 node GO_0002445 type II hypersensitivity null http://purl.obolibrary.org/obo/GO_0002445 node EFO_0004019 targeted mutation null http://www.ebi.ac.uk/efo/EFO_0004019 node Orphanet_2145 Craniosynostosis, Herrmann-Opitz type null http://www.orpha.net/ORDO/Orphanet_2145 node EFO_0006511 Kashin-Beck disease null http://www.ebi.ac.uk/efo/EFO_0006511 node Orphanet_2970 Prune belly syndrome null http://www.orpha.net/ORDO/Orphanet_2970 node NCBITaxon_8090 Oryzias latipes null http://purl.obolibrary.org/obo/NCBITaxon_8090 node EFO_0008754 GRIL-seq null http://www.ebi.ac.uk/efo/EFO_0008754 node Orphanet_96265 Leydig cell hypoplasia due to complete LH resistance null http://www.orpha.net/ORDO/Orphanet_96265 node Orphanet_228415 5q35 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_228415 node EFO_0001953 obsolete_external carotid artery null http://www.ebi.ac.uk/efo/EFO_0001953 node Orphanet_209199 Qualitative or quantitative defects of protein SERCA1 null http://www.orpha.net/ORDO/Orphanet_209199 node CHEBI_32588 potassium chloride null http://purl.obolibrary.org/obo/CHEBI_32588 node EFO_0001263 ZR7530 null http://www.ebi.ac.uk/efo/EFO_0001263 node NCBITaxon_318829 Magnaporthe oryzae null http://purl.obolibrary.org/obo/NCBITaxon_318829 node Orphanet_262648 Partial duplication of chromosome 10 null http://www.orpha.net/ORDO/Orphanet_262648 node CL_0002036 Slamf1-positive multipotent progenitor cell Markers are associated with mouse cells. http://purl.obolibrary.org/obo/CL_0002036 node EFO_0001086 A549 null http://www.ebi.ac.uk/efo/EFO_0001086 node EFO_0008842 Paired VH:VL Antibody Repertoire Analysis null http://www.ebi.ac.uk/efo/EFO_0008842 node MONDO_0003549 adenosquamous bile duct carcinoma null http://purl.obolibrary.org/obo/MONDO_0003549 node EFO_0007361 maxillary sinusitis null http://www.ebi.ac.uk/efo/EFO_0007361 node EFO_0002788 GM19238 null http://www.ebi.ac.uk/efo/EFO_0002788 node FBbt_00005822 embryonic outer optic lobe primordium null http://purl.obolibrary.org/obo/FBbt_00005822 node EFO_0002807 4470 null http://www.ebi.ac.uk/efo/EFO_0002807 node Orphanet_3210 Summitt syndrome null http://www.orpha.net/ORDO/Orphanet_3210 node UO_0000005 temperature unit null http://purl.obolibrary.org/obo/UO_0000005 node Orphanet_480 Kearns-Sayre syndrome null http://www.orpha.net/ORDO/Orphanet_480 node PATO_0000161 rate null http://purl.obolibrary.org/obo/PATO_0000161 node EFO_0001351 WKY null http://www.ebi.ac.uk/efo/EFO_0001351 node EFO_0009990 Fluidigm C1 microfluidics platform null http://www.ebi.ac.uk/efo/EFO_0009990 node EFO_0001174 HCC1937 null http://www.ebi.ac.uk/efo/EFO_0001174 node MONDO_0002286 renal artery disease null http://purl.obolibrary.org/obo/MONDO_0002286 node Orphanet_85320 X-linked intellectual disability - macrocephaly - macroorchidism null http://www.orpha.net/ORDO/Orphanet_85320 node EFO_0008907 scDNase-seq null http://www.ebi.ac.uk/efo/EFO_0008907 node CLO_0031581 GM14569 null http://purl.obolibrary.org/obo/CLO_0031581 node Orphanet_597 Central core disease null http://www.orpha.net/ORDO/Orphanet_597 node CHEBI_50161 motexafin gadolinium null http://purl.obolibrary.org/obo/CHEBI_50161 node EFO_0007262 epilepsy with generalized tonic-clonic seizures null http://www.ebi.ac.uk/efo/EFO_0007262 node EFO_0003132 HCC4006 null http://www.ebi.ac.uk/efo/EFO_0003132 node CHEBI_132938 ethylmalonate null http://purl.obolibrary.org/obo/CHEBI_132938 node MONDO_0054817 leukodystrophy, hypomyelinating, 17 null http://purl.obolibrary.org/obo/MONDO_0054817 node HP_0002910 Elevated hepatic transaminase null http://purl.obolibrary.org/obo/HP_0002910 node Orphanet_217610 Neuromuscular disease with dilated cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_217610 node Orphanet_1071 Ankyloblepharon - ectodermal defects - cleft lip/palate null http://www.orpha.net/ORDO/Orphanet_1071 node Orphanet_381 Griscelli disease null http://www.orpha.net/ORDO/Orphanet_381 node HP_0001881 Abnormal leukocyte morphology Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue. http://purl.obolibrary.org/obo/HP_0001881 node EFO_0009303 fructosamine measurement null http://www.ebi.ac.uk/efo/EFO_0009303 node EFO_0002382 TT null http://www.ebi.ac.uk/efo/EFO_0002382 node EFO_0002502 benign insulitis Benign insulitis describes the process of benign autoreactive T cells infiltrating islets of langerhans, prior to destructive insulitis. http://www.ebi.ac.uk/efo/EFO_0002502 node EFO_0006405 G142 null http://www.ebi.ac.uk/efo/EFO_0006405 node NCBITaxon_64315 Rocio virus null http://purl.obolibrary.org/obo/NCBITaxon_64315 node Orphanet_2655 Thanatophoric dysplasia null http://www.orpha.net/ORDO/Orphanet_2655 node EFO_0010569 clinical modifier null http://www.ebi.ac.uk/efo/EFO_0010569 node EFO_0002084 T84 null http://www.ebi.ac.uk/efo/EFO_0002084 node EFO_1000946 gastric mucosal hypertrophy null http://www.ebi.ac.uk/efo/EFO_1000946 node EFO_0002470 obsolete_periaqueductal gray null http://www.ebi.ac.uk/efo/EFO_0002470 node NCBITaxon_44001 Caldicellulosiruptor saccharolyticus null http://purl.obolibrary.org/obo/NCBITaxon_44001 node Orphanet_93400 congenital sialidosis type II null http://www.orpha.net/ORDO/Orphanet_93400 node EFO_1001183 skin appendage carcinoma null http://www.ebi.ac.uk/efo/EFO_1001183 node EFO_1000079 Ampulla of Vater Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000079 node EFO_0004686 non-compaction cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_0004686 node MONDO_0020039 46,XX disorder of sex development induced by androgens excess null http://purl.obolibrary.org/obo/MONDO_0020039 node EFO_0005528 parasitemia measurement null http://www.ebi.ac.uk/efo/EFO_0005528 node CHEBI_604731 pyrraline null http://purl.obolibrary.org/obo/CHEBI_604731 node EFO_0010176 keratinocyte carcinoma null http://www.ebi.ac.uk/efo/EFO_0010176 node MONDO_0007648 hereditary diffuse gastric adenocarcinoma Editor note: consider renaming to be consistent with NCIT:C43295; also check GARD http://purl.obolibrary.org/obo/MONDO_0007648 node MONDO_0060702 spondyloepimetaphyseal dysplasia, di rocco type null http://purl.obolibrary.org/obo/MONDO_0060702 node EFO_0004070 EM435 null http://www.ebi.ac.uk/efo/EFO_0004070 node EFO_0010657 neurodevelopmental disorder with absent language and variable seizures null http://www.ebi.ac.uk/efo/EFO_0010657 node EFO_0000180 HIV-1 infection null http://www.ebi.ac.uk/efo/EFO_0000180 node Orphanet_1545 Crisponi syndrome null http://www.orpha.net/ORDO/Orphanet_1545 node MONDO_0016494 regional variant of Guillain-Barre syndrome null http://purl.obolibrary.org/obo/MONDO_0016494 node Orphanet_1358 Carey-Fineman-Ziter syndrome null http://www.orpha.net/ORDO/Orphanet_1358 node EFO_1001271 Atrophic Vaginitis null http://www.ebi.ac.uk/efo/EFO_1001271 node CL_0000824 mature natural killer cell null http://purl.obolibrary.org/obo/CL_0000824 node EFO_0004774 chewing tobacco behavior null http://www.ebi.ac.uk/efo/EFO_0004774 node EFO_0004569 brain serotonin transporter measurement null http://www.ebi.ac.uk/efo/EFO_0004569 node EFO_1001084 parametritis null http://www.ebi.ac.uk/efo/EFO_1001084 node EFO_0005616 coronary artery raised atherosclerotic lesion null http://www.ebi.ac.uk/efo/EFO_0005616 node EFO_0009519 device complication null http://www.ebi.ac.uk/efo/EFO_0009519 node MONDO_0018072 persistent truncus arteriosus (disease) null http://purl.obolibrary.org/obo/MONDO_0018072 node MONDO_0001859 algoneurodystrophy null http://purl.obolibrary.org/obo/MONDO_0001859 node Orphanet_364817 Aggrecan-related bone disorder null http://www.orpha.net/ORDO/Orphanet_364817 node EFO_0010059 cerebral microbleeds null http://www.ebi.ac.uk/efo/EFO_0010059 node EFO_0007921 response to nitrofurantoin null http://www.ebi.ac.uk/efo/EFO_0007921 node Orphanet_397937 Polyglucosan body myopathy null http://www.orpha.net/ORDO/Orphanet_397937 node Orphanet_295173 Central polydactyly of fingers, bilateral null http://www.orpha.net/ORDO/Orphanet_295173 node EFO_0002028 microarray wash station null http://www.ebi.ac.uk/efo/EFO_0002028 node CHEBI_28689 dehydroepiandrosterone null http://purl.obolibrary.org/obo/CHEBI_28689 node PO_0007057 0 seed germination stage null http://purl.obolibrary.org/obo/PO_0007057 node Orphanet_1446 Ring chromosome 22 null http://www.orpha.net/ORDO/Orphanet_1446 node MONDO_0100225 collagen 6-related myopathy null http://purl.obolibrary.org/obo/MONDO_0100225 node Orphanet_262941 Partial duplication of the long arm of chromosome 14 null http://www.orpha.net/ORDO/Orphanet_262941 node Orphanet_39041 Omenn syndrome null http://www.orpha.net/ORDO/Orphanet_39041 node EFO_0008989 ISS null http://www.ebi.ac.uk/efo/EFO_0008989 node EFO_0004176 ChIP null http://www.ebi.ac.uk/efo/EFO_0004176 node PO_0004518 bark null http://purl.obolibrary.org/obo/PO_0004518 node CL_0000912 helper T cell null http://purl.obolibrary.org/obo/CL_0000912 node MONDO_0003005 macular retinal edema null http://purl.obolibrary.org/obo/MONDO_0003005 node EFO_0006576 GP5d null http://www.ebi.ac.uk/efo/EFO_0006576 node EFO_0005704 HuH-7.5 null http://www.ebi.ac.uk/efo/EFO_0005704 node EFO_0009607 pituitary gland disease null http://www.ebi.ac.uk/efo/EFO_0009607 node PO_0003015 primary root differentiation zone null http://purl.obolibrary.org/obo/PO_0003015 node CHEBI_22984 calcium null http://purl.obolibrary.org/obo/CHEBI_22984 node Orphanet_163927 Pustulosis palmaris et plantaris null http://www.orpha.net/ORDO/Orphanet_163927 node HP_0010752 Cleft mandible null http://purl.obolibrary.org/obo/HP_0010752 node EFO_0008771 HydEn-seq null http://www.ebi.ac.uk/efo/EFO_0008771 node MONDO_0043224 multi-infarct dementia null http://purl.obolibrary.org/obo/MONDO_0043224 node HP_0003690 Limb muscle weakness null http://purl.obolibrary.org/obo/HP_0003690 node MONDO_0002475 lacrimal gland adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0002475 node EFO_0004264 vascular disease null http://www.ebi.ac.uk/efo/EFO_0004264 node EFO_0006664 NCI-H1869 null http://www.ebi.ac.uk/efo/EFO_0006664 node HP_0007437 Multiple cutaneous leiomyomas null http://purl.obolibrary.org/obo/HP_0007437 node Orphanet_309839 Disorder of copper metabolism null http://www.orpha.net/ORDO/Orphanet_309839 node UBERON_0001001 chitin-based cuticle null http://purl.obolibrary.org/obo/UBERON_0001001 node Orphanet_95719 Thyroid hemiagenesis null http://www.orpha.net/ORDO/Orphanet_95719 node EFO_0006729 PA-TU-8902 null http://www.ebi.ac.uk/efo/EFO_0006729 node Orphanet_200418 Immunodeficiency with factor I anomaly null http://www.orpha.net/ORDO/Orphanet_200418 node MONDO_0001459 radial neuropathy null http://purl.obolibrary.org/obo/MONDO_0001459 node MONDO_0037871 amino acid metabolism disease null http://purl.obolibrary.org/obo/MONDO_0037871 node EFO_0007815 response to dabrafenib null http://www.ebi.ac.uk/efo/EFO_0007815 node HP_0000732 Inflexible adherence to routines or rituals null http://purl.obolibrary.org/obo/HP_0000732 node MONDO_0018352 squamous cell carcinoma of penis null http://purl.obolibrary.org/obo/MONDO_0018352 node UO_0000063 millimolar null http://purl.obolibrary.org/obo/UO_0000063 node EFO_0008696 COPRO-seq null http://www.ebi.ac.uk/efo/EFO_0008696 node EFO_0009538 chronic inflammatory demyelinating polyneuropathy Editor note: check this http://www.ebi.ac.uk/efo/EFO_0009538 node EFO_0007744 lung disease severity measurement null http://www.ebi.ac.uk/efo/EFO_0007744 node EFO_0007125 lachrymal gland lesion null http://www.ebi.ac.uk/efo/EFO_0007125 node EFO_0006817 yang deficiency null http://www.ebi.ac.uk/efo/EFO_0006817 node Orphanet_100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies null http://www.orpha.net/ORDO/Orphanet_100049 node CHEBI_28073 chromium null http://purl.obolibrary.org/obo/CHEBI_28073 node UBERON_2000975 somite 13 null http://purl.obolibrary.org/obo/UBERON_2000975 node MONDO_0045010 glycoprotein metabolism disease Examples: alpha-n-acetylgalactosaminidase deficiency (disorder), carbohydrate-deficient glycoprotein syndrome (disorder), alpha-1-antitrypsin deficiency (disorder), alpha-2-antitrypsin deficiency (disorder), sialidosis (disorder), aspartylglucosaminuria (disorder), fucosidosis (disorder), mannosidosis (disorder), i-cell disease (disorder), glycoprotein storage disorder (disorder) http://purl.obolibrary.org/obo/MONDO_0045010 node NCBITaxon_11628 Machupo virus null http://purl.obolibrary.org/obo/NCBITaxon_11628 node NCBITaxon_6287 Dirofilaria immitis null http://purl.obolibrary.org/obo/NCBITaxon_6287 node MONDO_0002872 trophoblastic neoplasm null http://purl.obolibrary.org/obo/MONDO_0002872 node NCBITaxon_9597 Pan paniscus null http://purl.obolibrary.org/obo/NCBITaxon_9597 node HP_0007370 Aplasia/Hypoplasia of the corpus callosum null http://purl.obolibrary.org/obo/HP_0007370 node Orphanet_98699 Syndromic ichthyosis associated with ocular features null http://www.orpha.net/ORDO/Orphanet_98699 node EFO_0007213 Colorado tick fever Editor note: we follow Orphanet in classifying as enphalitis, but this is not always a feature http://www.ebi.ac.uk/efo/EFO_0007213 node EFO_1001489 skin and soft tissue Staphylococcus aureus infection null http://www.ebi.ac.uk/efo/EFO_1001489 node MONDO_0015756 myeloid hemopathy null http://purl.obolibrary.org/obo/MONDO_0015756 node MONDO_0014662 congenital insensitivity to pain-hypohidrosis syndrome null http://purl.obolibrary.org/obo/MONDO_0014662 node MONDO_0032936 myopathy, congenital, with respiratory insufficiency and bone fractures null http://purl.obolibrary.org/obo/MONDO_0032936 node EFO_0009383 tumoral calcinosis, hyperphosphatemic, familial, 2 null http://www.ebi.ac.uk/efo/EFO_0009383 node MONDO_0020852 spermatogenic failure 31 null http://purl.obolibrary.org/obo/MONDO_0020852 node Orphanet_98964 Lattice corneal dystrophy type I null http://www.orpha.net/ORDO/Orphanet_98964 node MONDO_0004674 chorioretinitis (disease) null http://purl.obolibrary.org/obo/MONDO_0004674 node Orphanet_3305 Tetraploidy null http://www.orpha.net/ORDO/Orphanet_3305 node Orphanet_91378 Hereditary angioedema null http://www.orpha.net/ORDO/Orphanet_91378 node MONDO_0003112 malignant gastric germ cell tumor null http://purl.obolibrary.org/obo/MONDO_0003112 node Orphanet_98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect null http://www.orpha.net/ORDO/Orphanet_98097 node UO_0000007 luminous intensity unit null http://purl.obolibrary.org/obo/UO_0000007 node MONDO_0044969 disease of membrane bound organelle null http://purl.obolibrary.org/obo/MONDO_0044969 node NCBITaxon_81985 Capsella rubella null http://purl.obolibrary.org/obo/NCBITaxon_81985 node Orphanet_2732 Olivopontocerebellar atrophy - deafness null http://www.orpha.net/ORDO/Orphanet_2732 node EFO_0001902 obsolete_articular cartilage null http://www.ebi.ac.uk/efo/EFO_0001902 node Orphanet_237 Duplication of urethra null http://www.orpha.net/ORDO/Orphanet_237 node MONDO_0003816 articular cartilage disease null http://purl.obolibrary.org/obo/MONDO_0003816 node MONDO_0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis null http://purl.obolibrary.org/obo/MONDO_0017992 node EFO_0004365 personality trait null http://www.ebi.ac.uk/efo/EFO_0004365 node EFO_0003438 obsolete_presumptive spinal cord null http://www.ebi.ac.uk/efo/EFO_0003438 node Orphanet_2346 Angioosteohypertrophic syndrome null http://www.orpha.net/ORDO/Orphanet_2346 node HP_0005085 Limited knee flexion/extension null http://purl.obolibrary.org/obo/HP_0005085 node MONDO_0044751 chronic diarrheal disease null http://purl.obolibrary.org/obo/MONDO_0044751 node UBERON_0000344 mucosa null http://purl.obolibrary.org/obo/UBERON_0000344 node EFO_0003846 urethral neoplasm null http://www.ebi.ac.uk/efo/EFO_0003846 node EFO_0010921 N-terminal prohormone brain natriuretic peptide measurement null http://www.ebi.ac.uk/efo/EFO_0010921 node EFO_1000637 acute respiratory distress syndrome null http://www.ebi.ac.uk/efo/EFO_1000637 node Orphanet_2820 Spastic paraplegia - nephritis - deafness null http://www.orpha.net/ORDO/Orphanet_2820 node EFO_0008050 C-C motif chemokine 25 measurement null http://www.ebi.ac.uk/efo/EFO_0008050 node CL_0000632 hepatic stellate cell Hepatic stellate cells are CD271-positive, desmin-positive, DDR-2-positive, GFAP-positive, synamin-positive, synaptophysin-positive, vimentin-positive, They are capable of producing angiotensin II, fibronectin, laminin, MMP-1, MMP-2, MMP-3, MMP-9, MMP-11, TGF-beta1, TIMP-1, TIMP-2, type I collagen, type III collagen, type IV collagen, and type VI collagen. http://purl.obolibrary.org/obo/CL_0000632 node EFO_1000023 chronic cystitis null http://www.ebi.ac.uk/efo/EFO_1000023 node Orphanet_64280 Childhood absence epilepsy null http://www.orpha.net/ORDO/Orphanet_64280 node UBERON_0003894 liver primordium null http://purl.obolibrary.org/obo/UBERON_0003894 node EFO_0004453 obsolete_Arabidopsis Growth Stage 8.00 null http://www.ebi.ac.uk/efo/EFO_0004453 node EFO_0003526 obsolete_heart tube null http://www.ebi.ac.uk/efo/EFO_0003526 node EFO_0007429 peritonsillar abscess null http://www.ebi.ac.uk/efo/EFO_0007429 node CLO_0014943 GM17113 null http://purl.obolibrary.org/obo/CLO_0014943 node Orphanet_208508 Autosomal dominant cerebellar ataxia type 2 null http://www.orpha.net/ORDO/Orphanet_208508 node CHEBI_16738 2,4-dichlorophenol null http://purl.obolibrary.org/obo/CHEBI_16738 node EFO_0003934 obsolete_fatty liver null http://www.ebi.ac.uk/efo/EFO_0003934 node EFO_0006780 YMB-1-E null http://www.ebi.ac.uk/efo/EFO_0006780 node EFO_1000244 Epithelioid Cell Uveal Melanoma null http://www.ebi.ac.uk/efo/EFO_1000244 node EFO_1000725 lichen nitidus null http://www.ebi.ac.uk/efo/EFO_1000725 node MONDO_0017713 disorder of fatty acid oxidation and ketogenesis null http://purl.obolibrary.org/obo/MONDO_0017713 node EFO_0003747 amplicon sequencing null http://www.ebi.ac.uk/efo/EFO_0003747 node Orphanet_359 Hereditary glaucoma null http://www.orpha.net/ORDO/Orphanet_359 node EFO_0010341 cholesteryl ester 16:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010341 node EFO_0006593 Hs 895.T null http://www.ebi.ac.uk/efo/EFO_0006593 node EFO_0010822 stenosing tenosynovitis null http://www.ebi.ac.uk/efo/EFO_0010822 node CL_1001431 kidney collecting duct principal cell null http://purl.obolibrary.org/obo/CL_1001431 node CLO_0031272 GM14475 null http://purl.obolibrary.org/obo/CLO_0031272 node CHEBI_64561 lysophosphatidylcholine 18:0 null http://purl.obolibrary.org/obo/CHEBI_64561 node EFO_0002086 TIVE null http://www.ebi.ac.uk/efo/EFO_0002086 node EFO_0000094 B-cell acute lymphoblastic leukemia null http://www.ebi.ac.uk/efo/EFO_0000094 node Orphanet_269001 Isolated focal cortical dysplasia type IIa null http://www.orpha.net/ORDO/Orphanet_269001 node EFO_0005307 torsades de pointes null http://www.ebi.ac.uk/efo/EFO_0005307 node PO_0007134 sporophyte vegetative stage Succeeds a plant zygote stage (PO:0001097). A sporophyte may begin to senesce or die from other causes before producing sporangia. Developmental vegetative growth (GO:0080186) can also occur during the reproductive stage. http://purl.obolibrary.org/obo/PO_0007134 node UBERON_0003982 mature ovarian follicle null http://purl.obolibrary.org/obo/UBERON_0003982 node MONDO_0021351 neoplasm of neck null http://purl.obolibrary.org/obo/MONDO_0021351 node EFO_1000332 Lung Giant Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000332 node CLO_0013136 GM17292 null http://purl.obolibrary.org/obo/CLO_0013136 node Orphanet_2088 Glycogen storage disease due to GLUT2 deficiency null http://www.orpha.net/ORDO/Orphanet_2088 node UBERON_0001236 adrenal medulla null http://purl.obolibrary.org/obo/UBERON_0001236 node EFO_0006681 NCI-H2461 null http://www.ebi.ac.uk/efo/EFO_0006681 node CHEBI_19289 N(2),N(2)-dimethylguanosine null http://purl.obolibrary.org/obo/CHEBI_19289 node EFO_0000657 obsolete_platform obsolete platform because the distinction between instrument and platform is very fuzzy http://www.ebi.ac.uk/efo/EFO_0000657 node MONDO_0000385 benign digestive system neoplasm null http://purl.obolibrary.org/obo/MONDO_0000385 node EFO_0000182 hepatocellular carcinoma null http://www.ebi.ac.uk/efo/EFO_0000182 node CHEBI_28854 (2,4-dichlorophenoxy)acetic acid null http://purl.obolibrary.org/obo/CHEBI_28854 node Orphanet_308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form null http://www.orpha.net/ORDO/Orphanet_308655 node MONDO_0018786 pontine autosomal dominant microangiopathy with leukoencephalopathy null http://purl.obolibrary.org/obo/MONDO_0018786 node NCBITaxon_3712 Brassica oleracea null http://purl.obolibrary.org/obo/NCBITaxon_3712 node Orphanet_85175 Astley-Kendall dysplasia null http://www.orpha.net/ORDO/Orphanet_85175 node CLO_0015090 GM17137 null http://purl.obolibrary.org/obo/CLO_0015090 node HANCESTRO_0019 Japanese null http://purl.obolibrary.org/obo/HANCESTRO_0019 node MONDO_0021075 neoplastic polyp null http://purl.obolibrary.org/obo/MONDO_0021075 node NCBITaxon_171953 uncultured Acidobacteria bacterium null http://purl.obolibrary.org/obo/NCBITaxon_171953 node CHEBI_30780 maleate (-2) null http://purl.obolibrary.org/obo/CHEBI_30780 node Orphanet_93111 Renal cysts and diabetes syndrome null http://www.orpha.net/ORDO/Orphanet_93111 node Orphanet_1166 Congenital unilateral hypoplasia of depressor anguli oris Editor note: TODO check relationship to 22q11.2 deletion syndrome http://www.orpha.net/ORDO/Orphanet_1166 node EFO_0005002 lysine measurement null http://www.ebi.ac.uk/efo/EFO_0005002 node CHEBI_18320 1,4-dithiothreitol null http://purl.obolibrary.org/obo/CHEBI_18320 node HP_0200042 Skin ulcer null http://purl.obolibrary.org/obo/HP_0200042 node NCBITaxon_243265 Photorhabdus luminescens subsp. laumondii TTO1 null http://purl.obolibrary.org/obo/NCBITaxon_243265 node EFO_0000352 clinical history null http://www.ebi.ac.uk/efo/EFO_0000352 node EFO_1001033 marasmus null http://www.ebi.ac.uk/efo/EFO_1001033 node HP_0012103 Abnormality of the mitochondrion null http://purl.obolibrary.org/obo/HP_0012103 node EFO_0008773 ICE null http://www.ebi.ac.uk/efo/EFO_0008773 node NCBITaxon_77205 Microsporum ferrugineum null http://purl.obolibrary.org/obo/NCBITaxon_77205 node MONDO_0003978 colon small cell neuroendocrine carcinoma null http://purl.obolibrary.org/obo/MONDO_0003978 node Orphanet_98099 Autosomal recessive syndromic cerebellar ataxia null http://www.orpha.net/ORDO/Orphanet_98099 node Orphanet_98760 Spinocerebellar ataxia type 8 null http://www.orpha.net/ORDO/Orphanet_98760 node EFO_0008938 SNES null http://www.ebi.ac.uk/efo/EFO_0008938 node HP_0001392 Abnormality of the liver null http://purl.obolibrary.org/obo/HP_0001392 node Orphanet_101988 Primary immunodeficiency due to a defect in innate immunity null http://www.orpha.net/ORDO/Orphanet_101988 node Orphanet_3275 Spondylocarpotarsal synostosis null http://www.orpha.net/ORDO/Orphanet_3275 node HP_0001873 Thrombocytopenia Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). http://purl.obolibrary.org/obo/HP_0001873 node Orphanet_90650 Otopalatodigital syndrome type 1 null http://www.orpha.net/ORDO/Orphanet_90650 node CHEBI_76084 2-linoleoyl-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_76084 node EFO_0008861 PhIP-seq null http://www.ebi.ac.uk/efo/EFO_0008861 node MONDO_0008596 trichorhinophalangeal syndrome type I null http://purl.obolibrary.org/obo/MONDO_0008596 node Orphanet_75392 Ehlers-Danlos syndrome, periodontitis type null http://www.orpha.net/ORDO/Orphanet_75392 node EFO_0002187 HCC2218 null http://www.ebi.ac.uk/efo/EFO_0002187 node NCBITaxon_282459 Staphylococcus aureus subsp. aureus MSSA476 null http://purl.obolibrary.org/obo/NCBITaxon_282459 node PO_0008016 vegetative shoot apical meristem null http://purl.obolibrary.org/obo/PO_0008016 node EFO_0000676 psoriasis null http://www.ebi.ac.uk/efo/EFO_0000676 node HP_0002936 Distal sensory impairment null http://purl.obolibrary.org/obo/HP_0002936 node Orphanet_262206 Partial duplication of chromosome 4 null http://www.orpha.net/ORDO/Orphanet_262206 node EFO_1000591 Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000591 node EFO_0001668 human papilloma virus infection null http://www.ebi.ac.uk/efo/EFO_0001668 node GO_0009058 biosynthetic process null http://purl.obolibrary.org/obo/GO_0009058 node EFO_1000889 cystic, mucinous, and serous neoplasm null http://www.ebi.ac.uk/efo/EFO_1000889 node Orphanet_309031 Pancreatic triacylglycerol lipase deficiency null http://www.orpha.net/ORDO/Orphanet_309031 node EFO_0008358 dorsolateral prefrontal cortex functional measurement null http://www.ebi.ac.uk/efo/EFO_0008358 node Orphanet_3363 Trichomegaly - retina pigmentary degeneration - dwarfism null http://www.orpha.net/ORDO/Orphanet_3363 node NCBITaxon_8175 Sparus aurata null http://purl.obolibrary.org/obo/NCBITaxon_8175 node EFO_0008839 OS-Seq null http://www.ebi.ac.uk/efo/EFO_0008839 node Orphanet_79133 Focal facial dermal dysplasia type I null http://www.orpha.net/ORDO/Orphanet_79133 node EFO_0008285 sialic acid-binding Ig-like lectin 6 measurement null http://www.ebi.ac.uk/efo/EFO_0008285 node CL_0001004 immature CD8_alpha-positive CD11b-negative dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000017)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001004 node EFO_0002860 SK-N-MC null http://www.ebi.ac.uk/efo/EFO_0002860 node EFO_0002275 NCI-H2052 null http://www.ebi.ac.uk/efo/EFO_0002275 node EFO_0001348 Okamoto-Aoki null http://www.ebi.ac.uk/efo/EFO_0001348 node BTO_0001630 obsolete_right ventricle null http://purl.obolibrary.org/obo/BTO_0001630 node NCBITaxon_227984 SARS coronavirus Tor2 null http://purl.obolibrary.org/obo/NCBITaxon_227984 node HP_0001977 Abnormal thrombosis null http://purl.obolibrary.org/obo/HP_0001977 node MONDO_0024498 glioma susceptibility 1 null http://purl.obolibrary.org/obo/MONDO_0024498 node MONDO_0002031 cecal disease null http://purl.obolibrary.org/obo/MONDO_0002031 node EFO_0000764 HIV infection null http://www.ebi.ac.uk/efo/EFO_0000764 node HANCESTRO_0463 American null http://purl.obolibrary.org/obo/HANCESTRO_0463 node MONDO_0002512 papillary adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0002512 node Orphanet_93594 Alpha-1-antichymotrypsin deficiency null http://www.orpha.net/ORDO/Orphanet_93594 node EFO_0001756 disease state design null http://www.ebi.ac.uk/efo/EFO_0001756 node EFO_1000977 hypertensive retinopathy null http://www.ebi.ac.uk/efo/EFO_1000977 node EFO_0002673 antiprogestin null http://www.ebi.ac.uk/efo/EFO_0002673 node HP_0000540 Hypermetropia The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D). http://purl.obolibrary.org/obo/HP_0000540 node NCBITaxon_40324 Stenotrophomonas maltophilia null http://purl.obolibrary.org/obo/NCBITaxon_40324 node EFO_0008446 platelet-to-lymphocyte ratio null http://www.ebi.ac.uk/efo/EFO_0008446 node EFO_0008550 Hepatobiliary Neoplasm null http://www.ebi.ac.uk/efo/EFO_0008550 node EFO_0002496 actinic keratosis null http://www.ebi.ac.uk/efo/EFO_0002496 node EFO_0003129 HCC15 null http://www.ebi.ac.uk/efo/EFO_0003129 node Orphanet_269557 Genetic posterior fossa malformation null http://www.orpha.net/ORDO/Orphanet_269557 node Orphanet_171886 Cylindrical spirals myopathy null http://www.orpha.net/ORDO/Orphanet_171886 node GO_0009206 purine ribonucleoside triphosphate biosynthetic process null http://purl.obolibrary.org/obo/GO_0009206 node Orphanet_35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency null http://www.orpha.net/ORDO/Orphanet_35078 node EFO_0002761 methylation profiling by high throughput sequencing null http://www.ebi.ac.uk/efo/EFO_0002761 node MONDO_0020854 Liddle syndrome 2 null http://purl.obolibrary.org/obo/MONDO_0020854 node EFO_0007506 theileriasis null http://www.ebi.ac.uk/efo/EFO_0007506 node CHEBI_63927 cinidon ethyl null http://purl.obolibrary.org/obo/CHEBI_63927 node Orphanet_2511 Microbrachycephaly - ptosis - cleft lip null http://www.orpha.net/ORDO/Orphanet_2511 node EFO_0002584 Theiler stage 21 null http://www.ebi.ac.uk/efo/EFO_0002584 node HP_0004323 Abnormality of body weight null http://purl.obolibrary.org/obo/HP_0004323 node Orphanet_400025 Female infertility due to an implantation defect of genetic origin null http://www.orpha.net/ORDO/Orphanet_400025 node Orphanet_261295 20p12.3 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261295 node CHEBI_49033 methionine S-oxide null http://purl.obolibrary.org/obo/CHEBI_49033 node HP_0000264 Abnormality of the mastoid null http://purl.obolibrary.org/obo/HP_0000264 node Orphanet_73220 X-linked intellectual disability - hypotonic face null http://www.orpha.net/ORDO/Orphanet_73220 node MONDO_0100091 inherited pseudoxanthoma elasticum Pathophysiology: In PXE, there is mineralization (accumulation of calcium and other minerals) and fragmentation of the elastin-containing fibers in connective tissue, but primarily in the midlaminar layer of the dermis, Bruch's membrane and the midsized arteries.[12] Recent studies hypothesize that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot reach peripheral tissues http://purl.obolibrary.org/obo/MONDO_0100091 node MONDO_0003561 malignant giant cell tumor of soft parts null http://purl.obolibrary.org/obo/MONDO_0003561 node UBERON_0012171 shell of nucleus accumbens null http://purl.obolibrary.org/obo/UBERON_0012171 node Orphanet_1836 Mesomelic dysplasia, Kantaputra type null http://www.orpha.net/ORDO/Orphanet_1836 node Orphanet_157820 Cold-induced sweating syndrome null http://www.orpha.net/ORDO/Orphanet_157820 node NCBITaxon_81846 Arthroderma cajetani null http://purl.obolibrary.org/obo/NCBITaxon_81846 node EFO_0004542 planned process null http://www.ebi.ac.uk/efo/EFO_0004542 node EFO_1001919 Spinal cord injury null http://www.ebi.ac.uk/efo/EFO_1001919 node EFO_0005868 embryonic stage 8 Temporal ordering number - 250. http://www.ebi.ac.uk/efo/EFO_0005868 node NCBITaxon_1534 Clostridium kluyveri null http://purl.obolibrary.org/obo/NCBITaxon_1534 node Orphanet_93602 Xanthinuria type II null http://www.orpha.net/ORDO/Orphanet_93602 node NCBITaxon_45130 Cochliobolus sativus null http://purl.obolibrary.org/obo/NCBITaxon_45130 node EFO_0000499 follicular thyroid adenoma null http://www.ebi.ac.uk/efo/EFO_0000499 node Orphanet_711 Glycogen storage disease due to phosphoglucomutase deficiency null http://www.orpha.net/ORDO/Orphanet_711 node EFO_0001101 CC531 null http://www.ebi.ac.uk/efo/EFO_0001101 node CHEBI_9948 verapamil null http://purl.obolibrary.org/obo/CHEBI_9948 node Orphanet_179490 Obesity due to congenital leptin resistance null http://www.orpha.net/ORDO/Orphanet_179490 node HP_0002069 Bilateral tonic-clonic seizure A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. http://purl.obolibrary.org/obo/HP_0002069 node CL_0000938 CD16-negative, CD56-bright natural killer cell, human This cell type is compatible with the HIPC Lyoplate markers for 'CD16-CD56bright NK cell'. Markers are associated with human cell types. http://purl.obolibrary.org/obo/CL_0000938 node EFO_0001030 RNAi profiling by array null http://www.ebi.ac.uk/efo/EFO_0001030 node GO_0035813 regulation of renal sodium excretion null http://purl.obolibrary.org/obo/GO_0035813 node EFO_0005171 Bologna ecotype null http://www.ebi.ac.uk/efo/EFO_0005171 node EFO_0009074 methylmalonic aciduria cblb type null http://www.ebi.ac.uk/efo/EFO_0009074 node EFO_1000118 Benign Renal Pelvis Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000118 node CHEBI_25555 nitrogen atom null http://purl.obolibrary.org/obo/CHEBI_25555 node EFO_0004630 factor VIII measurement null http://www.ebi.ac.uk/efo/EFO_0004630 node Orphanet_138063 Syndrome associated with Pierre Robin syndrome null http://www.orpha.net/ORDO/Orphanet_138063 node EFO_1001268 Aortic Rupture null http://www.ebi.ac.uk/efo/EFO_1001268 node EFO_0004314 forced expiratory volume null http://www.ebi.ac.uk/efo/EFO_0004314 node MONDO_0019843 pituitary hormone deficiency secondary to a granulomatous disease null http://purl.obolibrary.org/obo/MONDO_0019843 node Orphanet_90797 Partial androgen insensitivity syndrome null http://www.orpha.net/ORDO/Orphanet_90797 node MONDO_0021208 endocrine alopecia null http://purl.obolibrary.org/obo/MONDO_0021208 node EFO_0005698 Daoy null http://www.ebi.ac.uk/efo/EFO_0005698 node Orphanet_91415 Familial capillary hemangioma null http://www.orpha.net/ORDO/Orphanet_91415 node EFO_0009162 charcot-marie-tooth disease, axonal, type 2t null http://www.ebi.ac.uk/efo/EFO_0009162 node Orphanet_71278 Congenital brain dysgenesis due to glutamine synthetase deficiency null http://www.orpha.net/ORDO/Orphanet_71278 node EFO_0006595 Hs 940.T null http://www.ebi.ac.uk/efo/EFO_0006595 node CLO_0014369 GM17224 null http://purl.obolibrary.org/obo/CLO_0014369 node EFO_0005480 MEL-GATA-1-ER null http://www.ebi.ac.uk/efo/EFO_0005480 node GO_0035483 gastric emptying null http://purl.obolibrary.org/obo/GO_0035483 node UBERON_0004770 articular system null http://purl.obolibrary.org/obo/UBERON_0004770 node EFO_0004402 Theiler stage 10 null http://www.ebi.ac.uk/efo/EFO_0004402 node Orphanet_210548 Macrocephaly-autism syndrome null http://www.orpha.net/ORDO/Orphanet_210548 node Orphanet_398189 Focal facial dermal dysplasia type IV null http://www.orpha.net/ORDO/Orphanet_398189 node EFO_0010425 triacylglycerol 54:7 measurement null http://www.ebi.ac.uk/efo/EFO_0010425 node EFO_0004215 anorexia nervosa null http://www.ebi.ac.uk/efo/EFO_0004215 node EFO_0004800 frontal theta oscillation measurement null http://www.ebi.ac.uk/efo/EFO_0004800 node EFO_0006683 NCI-H2596 null http://www.ebi.ac.uk/efo/EFO_0006683 node EFO_0000910 obsolete_thalamus null http://www.ebi.ac.uk/efo/EFO_0000910 node MONDO_0018565 congenital urachal anomaly null http://purl.obolibrary.org/obo/MONDO_0018565 node EFO_0006520 carbon monoxide exhalation measurement null http://www.ebi.ac.uk/efo/EFO_0006520 node HP_0012647 Abnormal inflammatory response null http://purl.obolibrary.org/obo/HP_0012647 node MONDO_0044325 Fanconi anemia, complementation group W null http://purl.obolibrary.org/obo/MONDO_0044325 node EFO_1001414 Retrobulbar Hemorrhage null http://www.ebi.ac.uk/efo/EFO_1001414 node CHEBI_17356 2-acetylaminofluorene null http://purl.obolibrary.org/obo/CHEBI_17356 node HP_0000758 Impaired use of nonverbal behaviors null http://purl.obolibrary.org/obo/HP_0000758 node MONDO_0012561 congenital anomalies of kidney and urinary tract 1, susceptibility to null http://purl.obolibrary.org/obo/MONDO_0012561 node Orphanet_315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form null http://www.orpha.net/ORDO/Orphanet_315306 node EFO_0006367 CI-1 null http://www.ebi.ac.uk/efo/EFO_0006367 node EFO_0000043 CS57627 null http://www.ebi.ac.uk/efo/EFO_0000043 node MONDO_0014284 short-rib thoracic dysplasia 10 with or without polydactyly null http://purl.obolibrary.org/obo/MONDO_0014284 node EFO_0004917 high throughput sequence alignment protocol null http://www.ebi.ac.uk/efo/EFO_0004917 node CL_0002414 immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte null http://purl.obolibrary.org/obo/CL_0002414 node Orphanet_79385 Unclassified genetic skin disorder Editor note: obsolete this http://www.orpha.net/ORDO/Orphanet_79385 node EFO_0010032 EasyMF null http://www.ebi.ac.uk/efo/EFO_0010032 node EFO_0010513 nucleotide measurement null http://www.ebi.ac.uk/efo/EFO_0010513 node GO_0042593 glucose homeostasis null http://purl.obolibrary.org/obo/GO_0042593 node UBERON_2000648 dorsal fin musculature null http://purl.obolibrary.org/obo/UBERON_2000648 node Orphanet_48431 Congenital cataracts - facial dysmorphism - neuropathy null http://www.orpha.net/ORDO/Orphanet_48431 node UBERON_0002112 smooth muscle of esophagus null http://purl.obolibrary.org/obo/UBERON_0002112 node Orphanet_391397 Hereditary sensory and autonomic neuropathy type 7 null http://www.orpha.net/ORDO/Orphanet_391397 node EFO_1001502 rasopathy null http://www.ebi.ac.uk/efo/EFO_1001502 node MONDO_0000334 multinodular goiter null http://purl.obolibrary.org/obo/MONDO_0000334 node EFO_0000131 CS57823 null http://www.ebi.ac.uk/efo/EFO_0000131 node EFO_0007370 milker's nodule null http://www.ebi.ac.uk/efo/EFO_0007370 node Orphanet_79473 Porphyria variegata null http://www.orpha.net/ORDO/Orphanet_79473 node Orphanet_48652 Monosomy 22q13 null http://www.orpha.net/ORDO/Orphanet_48652 node EFO_0009093 choroidal melanoma HP:0012054 http://www.ebi.ac.uk/efo/EFO_0009093 node EFO_0008647 5’-GRO-seq null http://www.ebi.ac.uk/efo/EFO_0008647 node EFO_0006268 A431 null http://www.ebi.ac.uk/efo/EFO_0006268 node EFO_0010120 fasting blood glucose change measurement null http://www.ebi.ac.uk/efo/EFO_0010120 node Orphanet_308604 Glycogen storage disease due to acid maltase deficiency, adult onset null http://www.orpha.net/ORDO/Orphanet_308604 node GO_0090257 regulation of muscle system process null http://purl.obolibrary.org/obo/GO_0090257 node GO_0042476 odontogenesis null http://purl.obolibrary.org/obo/GO_0042476 node Orphanet_156601 Rare genetic hepatic disease null http://www.orpha.net/ORDO/Orphanet_156601 node EFO_0007897 cryptoxanthin measurement null http://www.ebi.ac.uk/efo/EFO_0007897 node HP_0000934 Chondrocalcinosis null http://purl.obolibrary.org/obo/HP_0000934 node EFO_0008236 monokine induced by gamma interferon measurement null http://www.ebi.ac.uk/efo/EFO_0008236 node NCBITaxon_431241 Trichoderma reesei QM6a null http://purl.obolibrary.org/obo/NCBITaxon_431241 node EFO_0008049 C-C motif chemokine 23 measurement null http://www.ebi.ac.uk/efo/EFO_0008049 node HP_0003072 Hypercalcemia null http://purl.obolibrary.org/obo/HP_0003072 node GO_0044462 external encapsulating structure part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0044462 node MONDO_0000643 vulvar benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0000643 node Orphanet_98621 Rare hyperopia and astigmatism null http://www.orpha.net/ORDO/Orphanet_98621 node FBbt_00005528 midline primordium null http://purl.obolibrary.org/obo/FBbt_00005528 node Orphanet_163982 X-linked intellectual disability - spastic quadriparesis null http://www.orpha.net/ORDO/Orphanet_163982 node Orphanet_93975 Renier-Gabreels-Jasper syndrome null http://www.orpha.net/ORDO/Orphanet_93975 node Orphanet_371195 Congenital disorder of glycosylation-related bone disorder null http://www.orpha.net/ORDO/Orphanet_371195 node MONDO_0000456 cerebral creatine deficiency syndrome null http://purl.obolibrary.org/obo/MONDO_0000456 node GO_0050727 regulation of inflammatory response null http://purl.obolibrary.org/obo/GO_0050727 node CHEBI_76282 suberate(2-) null http://purl.obolibrary.org/obo/CHEBI_76282 node EFO_1000187 obsolete_colon neoplasm null http://www.ebi.ac.uk/efo/EFO_1000187 node Orphanet_93270 Short rib-polydactyly syndrome, Saldino-Noonan type null http://www.orpha.net/ORDO/Orphanet_93270 node EFO_1000668 allergic contact dermatitis null http://www.ebi.ac.uk/efo/EFO_1000668 node EFO_0007314 hookworm infectious disease Editor note: TODO http://www.ebi.ac.uk/efo/EFO_0007314 node EFO_0008137 galectin-3 measurement null http://www.ebi.ac.uk/efo/EFO_0008137 node Orphanet_254837 Unspecified mitochondrial disorder null http://www.orpha.net/ORDO/Orphanet_254837 node HP_0001072 Thickened skin null http://purl.obolibrary.org/obo/HP_0001072 node MONDO_0014659 fever-associated acute infantile liver failure syndrome null http://purl.obolibrary.org/obo/MONDO_0014659 node HP_0008110 Equinovarus deformity null http://purl.obolibrary.org/obo/HP_0008110 node Orphanet_401768 Proximal myopathy with extrapyramidal signs null http://www.orpha.net/ORDO/Orphanet_401768 node EFO_0009943 Antihistamine use measurement null http://www.ebi.ac.uk/efo/EFO_0009943 node EFO_1000452 Parachordoma null http://www.ebi.ac.uk/efo/EFO_1000452 node UBERON_0001976 epithelium of esophagus null http://purl.obolibrary.org/obo/UBERON_0001976 node MONDO_0013017 hypotrichosis 5 null http://purl.obolibrary.org/obo/MONDO_0013017 node CL_0002028 basophil mast progenitor cell There may be an intermediate cell type. These cells also CD13-positive, CD16-positive, CD32-positive, and integrin beta 7-positive. Transcription factors: GATA1-positive, MCP-1-positive, mitf-positive, PU.1-positive, and CEBP/a-low. http://purl.obolibrary.org/obo/CL_0002028 node EFO_0004882 obsolete_avelline corneal dystrophy null http://www.ebi.ac.uk/efo/EFO_0004882 node Orphanet_2916 Postaxial polydactyly - dental and vertebral anomalies null http://www.orpha.net/ORDO/Orphanet_2916 node EFO_1000275 Gastric Neuroendocrine Tumor G1 null http://www.ebi.ac.uk/efo/EFO_1000275 node NCBITaxon_8036 Salvelinus alpinus null http://purl.obolibrary.org/obo/NCBITaxon_8036 node EFO_0007402 onchocerciasis null http://www.ebi.ac.uk/efo/EFO_0007402 node EFO_0003778 psoriatic arthritis null http://www.ebi.ac.uk/efo/EFO_0003778 node UBERON_0001179 peritoneal cavity null http://purl.obolibrary.org/obo/UBERON_0001179 node EFO_1000088 Appendix Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000088 node EFO_1000569 Testicular Leydig Cell Tumor null http://www.ebi.ac.uk/efo/EFO_1000569 node NCBITaxon_332112 Saccharomyces cerevisiae x Saccharomyces kudriavzevii null http://purl.obolibrary.org/obo/NCBITaxon_332112 node HP_0003546 Exercise intolerance null http://purl.obolibrary.org/obo/HP_0003546 node EFO_0002136 COLO320DM null http://www.ebi.ac.uk/efo/EFO_0002136 node EFO_0001209 MDAMB231 null http://www.ebi.ac.uk/efo/EFO_0001209 node MONDO_0003276 middle ear disease null http://purl.obolibrary.org/obo/MONDO_0003276 node EFO_1000540 Soft Tissue Chondroma null http://www.ebi.ac.uk/efo/EFO_1000540 node EFO_0009878 drug interaction null http://www.ebi.ac.uk/efo/EFO_0009878 node Orphanet_399786 Male infertility with spermatogenesis disorder due to single gene mutation null http://www.orpha.net/ORDO/Orphanet_399786 node MONDO_0021659 combined carcinoid and adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0021659 node EFO_0002838 MS589 null http://www.ebi.ac.uk/efo/EFO_0002838 node EFO_0010918 lectin-like oxidized LDL receptor 1 measurement null http://www.ebi.ac.uk/efo/EFO_0010918 node CL_0000816 immature B cell Immature B cells are also reportedly CD5-positive, CD10-positive, CD19-positive, CD20-positive, CD21-positive, CD22-positive, CD24-positive, CD25-negative, CD27-negative, CD34-negative, CD38-positive, CD40-positive, CD43-negative, CD45-positive, CD48-positive, CD53-positive, CD79a-positive, CD80-negative, CD81-positive, CD86-negative, CD95-negative, CD127-negative, CD138-negative, CD185-positive, CD196-positive, MHCII/HLA-DR-positive, RAG-positive, TdT-negative, Vpre-B-negative, and preBCR-negative. Transcription factors expressed: Pax5-positive. http://purl.obolibrary.org/obo/CL_0000816 node EFO_0002224 Kasumi2 null http://www.ebi.ac.uk/efo/EFO_0002224 node CHEBI_28885 butan-1-ol null http://purl.obolibrary.org/obo/CHEBI_28885 node CHEBI_27958 cocaine null http://purl.obolibrary.org/obo/CHEBI_27958 node HP_0009020 Exercise-induced muscle fatigue null http://purl.obolibrary.org/obo/HP_0009020 node EFO_1001982 Antisynthetase syndrome null http://www.ebi.ac.uk/efo/EFO_1001982 node UBERON_0001488 ankle joint null http://purl.obolibrary.org/obo/UBERON_0001488 node EFO_0002037 4T1 null http://www.ebi.ac.uk/efo/EFO_0002037 node EFO_0002622 rotavirus infection null http://www.ebi.ac.uk/efo/EFO_0002622 node CHEBI_35391 aspartate(1-) null http://purl.obolibrary.org/obo/CHEBI_35391 node HP_0012899 Handgrip myotonia null http://purl.obolibrary.org/obo/HP_0012899 node MONDO_0018814 non-severe combined immunodeficiency null http://purl.obolibrary.org/obo/MONDO_0018814 node HP_0002715 Abnormality of the immune system The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages. http://purl.obolibrary.org/obo/HP_0002715 node EFO_0002926 ENCODE cell line null http://www.ebi.ac.uk/efo/EFO_0002926 node Orphanet_181431 Rare hypolipidemia null http://www.orpha.net/ORDO/Orphanet_181431 node Orphanet_262083 Partial monosomy of the long arm of chromosome 10 null http://www.orpha.net/ORDO/Orphanet_262083 node EFO_0009108 fluorescence-activated cell sorting null http://www.ebi.ac.uk/efo/EFO_0009108 node HP_0000125 Pelvic kidney null http://purl.obolibrary.org/obo/HP_0000125 node NCBITaxon_78511 Ribes nigrum null http://purl.obolibrary.org/obo/NCBITaxon_78511 node EFO_0002739 B10.NOD_H2g7 null http://www.ebi.ac.uk/efo/EFO_0002739 node CL_0000236 B cell null http://purl.obolibrary.org/obo/CL_0000236 node EFO_0004023 obsolete_Roberstonian translocation null http://www.ebi.ac.uk/efo/EFO_0004023 node CHEBI_62982 ammonium phosphate null http://purl.obolibrary.org/obo/CHEBI_62982 node GO_2000294 positive regulation of defecation null http://purl.obolibrary.org/obo/GO_2000294 node CHEBI_28786 paraquat dichloride null http://purl.obolibrary.org/obo/CHEBI_28786 node EFO_0003074 ES cell line null http://www.ebi.ac.uk/efo/EFO_0003074 node MONDO_0021348 neoplasm of testis null http://purl.obolibrary.org/obo/MONDO_0021348 node EFO_0002710 COLO357 null http://www.ebi.ac.uk/efo/EFO_0002710 node MONDO_0022293 vascular disorder of penis null http://purl.obolibrary.org/obo/MONDO_0022293 node NCBITaxon_392499 Sphingomonas wittichii RW1 null http://purl.obolibrary.org/obo/NCBITaxon_392499 node EFO_0002346 SNU387 null http://www.ebi.ac.uk/efo/EFO_0002346 node PO_0004542 rhizome null http://purl.obolibrary.org/obo/PO_0004542 node MONDO_0100040 FOXG1 disorder Subtypes of the heterogeneous, eponymously named Congenital variant of Rett Syndrome, and Atypical Rett Syndrome are caused by mutations in the gene FOXG1. The common and most penetrant phenotype shared among these disease entities is neurodevelopmental impairment present in early infancy, progressive microcephaly, and MRI of the brain showing reduced myelinization and/or abnormal corpus callosum. Stereotypic hand movements, epilepsy, and abnormal breathing can have variable phenotypic expressivity. http://purl.obolibrary.org/obo/MONDO_0100040 node MONDO_0018642 NIK deficiency null http://purl.obolibrary.org/obo/MONDO_0018642 node EFO_0004069 DF5018 null http://www.ebi.ac.uk/efo/EFO_0004069 node Orphanet_77295 Odontoleukodystrophy null http://www.orpha.net/ORDO/Orphanet_77295 node EFO_0006925 lipoprotein A measurement null http://www.ebi.ac.uk/efo/EFO_0006925 node EFO_0000601 129xC57BL/6 null http://www.ebi.ac.uk/efo/EFO_0000601 node EFO_0000448 embryonic corpus allatum null http://www.ebi.ac.uk/efo/EFO_0000448 node EFO_1001129 proliferative vitreoretinopathy null http://www.ebi.ac.uk/efo/EFO_1001129 node CHEBI_8461 promethazine null http://purl.obolibrary.org/obo/CHEBI_8461 node MONDO_0018730 rare genetic venous malformation null http://purl.obolibrary.org/obo/MONDO_0018730 node Orphanet_79076 Juvenile polyposis of infancy null http://www.orpha.net/ORDO/Orphanet_79076 node MONDO_0013497 Okt4 epitope deficiency null http://purl.obolibrary.org/obo/MONDO_0013497 node CHEBI_3092 bicuculline null http://purl.obolibrary.org/obo/CHEBI_3092 node Orphanet_308380 Methylcobalamin deficiency type cblDv1 null http://www.orpha.net/ORDO/Orphanet_308380 node EFO_0008911 scMT-Seq null http://www.ebi.ac.uk/efo/EFO_0008911 node Orphanet_1110 Aortic arch anomaly - peculiar facies - intellectual disability null http://www.orpha.net/ORDO/Orphanet_1110 node UO_0000055 molar mass unit null http://purl.obolibrary.org/obo/UO_0000055 node EFO_1001217 Treponema infectious disease null http://www.ebi.ac.uk/efo/EFO_1001217 node EFO_0000349 clear cell renal carcinoma null http://www.ebi.ac.uk/efo/EFO_0000349 node EFO_0005647 ATC Code V Various V VARIOUS This group comprises many different types of drugs, and assigning DDDs are difficult. Very few DDDs are assigned in this group. V01 ALLERGENS V03 ALL OTHER THERAPEUTIC PRODUCTS V04 DIAGNOSTIC AGENTS V06 GENERAL NUTRIENTS This group comprises nutrients for oral use, incl. preparations used in feeding with stomach tube. Solutions for parenteral nutrition are classified in B05BA. V07 ALL OTHER NON-THERAPEUTIC PRODUCTS V08 CONTRAST MEDIA This group comprises X-ray, MRI and Ultrasound contrast media. The X-ray contrast media are subdivided into iodinated and non-iodinated compounds, and are further classified according to water solubility, osmolarity and nephrotropic/hepatotropic properties. High osmolar substances correspond mainly to ionic substances, except from ioxaglic acid, which is classified together with the non-ionic substances. MRI contrast media are subdivided according to magnetic properties. V09 DIAGNOSTIC RADIOPHARMACEUTICALS An expert group consisting of Dik Blok (the Netherlands), Per Oscar Bremer (Norway) and Trygve Bringhammar (Sweden) is responsible for the ATC classification of radiopharmaceuticals in V09 and V10. The group has also prepared the guidelines for classification of these products. Radiopharmaceuticals for diagnostic use are classified in this group, while radiopharmaceuticals for therapeutic use are classified in V10. In general, the 3rd level are subdivided according to site of action or organ system, the 4th level according to radionuclide and the 5th level specifies the chemical substance. The ATC 5th level defines the actual form essential in nuclear medicine procedures, which includes radionuclide and carrier molecule. Therefore, products on the market, that can often be regarded as intermediate products rather than ready-to-use radiopharmaceuticals, can be given more than one (5th level) ATC code, e.g. Technetium (99mTc) exametazime (V09AA01) and technetium (99mTc) exametazime labelled cells (V09HA02). ATC codes are not assigned for radionuclide precursors which are used only in the radiolabelling of another substance prior to administration. No DDDs have been assigned for radiopharmaceuticals. V10 THERAPEUTIC RADIOPHARMACEUTICALS Radiopharmaceuticals for therapeutic use are classified in this group, while radiopharmaceuticals for diagnostic use are classified in V09 - Diagnostic radiopharmaceuticals. See comments to V09. V20 SURGICAL DRESSINGS A detailed classification of surgical dressings is prepared and maintained by the Ministry of Defence in the UK. http://www.ebi.ac.uk/efo/EFO_0005647 node EFO_0008493 cerebral small vessel disease null http://www.ebi.ac.uk/efo/EFO_0008493 node Orphanet_96102 Distal trisomy 10q null http://www.orpha.net/ORDO/Orphanet_96102 node MONDO_0013585 hydrolethalus syndrome 2 null http://purl.obolibrary.org/obo/MONDO_0013585 node Orphanet_98868 Southeast Asian ovalocytosis null http://www.orpha.net/ORDO/Orphanet_98868 node EFO_0009761 periprosthetic osteolysis null http://www.ebi.ac.uk/efo/EFO_0009761 node EFO_0008812 MINCE-seq null http://www.ebi.ac.uk/efo/EFO_0008812 node PO_0009052 pedicel The bracteoles are borne on the pedicel, which terminates in a flower. A pedicel is the ultimate branch in an inflorescence http://purl.obolibrary.org/obo/PO_0009052 node MONDO_0030034 epilepsy, progressive myoclonic, 11 null http://purl.obolibrary.org/obo/MONDO_0030034 node Orphanet_251274 Familial hyperaldosteronism type III null http://www.orpha.net/ORDO/Orphanet_251274 node EFO_0005067 block null http://www.ebi.ac.uk/efo/EFO_0005067 node Orphanet_90647 Jervell and Lange-Nielsen syndrome null http://www.orpha.net/ORDO/Orphanet_90647 node HP_0000384 Preauricular skin tag null http://purl.obolibrary.org/obo/HP_0000384 node MONDO_0032896 spermatogenic failure 42 null http://purl.obolibrary.org/obo/MONDO_0032896 node CL_0002040 immature NK T cell stage II NKT.44-NK1.1-.Th was assigned as an exact synonym based on sorting strategy displayed at immgene.org. http://purl.obolibrary.org/obo/CL_0002040 node EFO_1000950 giant cell reparative granuloma null http://www.ebi.ac.uk/efo/EFO_1000950 node Orphanet_2316 Johnson neuroectodermal syndrome null http://www.orpha.net/ORDO/Orphanet_2316 node GO_0007601 visual perception null http://purl.obolibrary.org/obo/GO_0007601 node MONDO_0018327 glomus tumor null http://purl.obolibrary.org/obo/MONDO_0018327 node Orphanet_84132 Desmin-related myopathy with Mallory body-like inclusions null http://www.orpha.net/ORDO/Orphanet_84132 node Orphanet_75389 Brain malformation - congenital heart disease - postaxial polydactyly null http://www.orpha.net/ORDO/Orphanet_75389 node Orphanet_428 Autosomal dominant hypocalcemia null http://www.orpha.net/ORDO/Orphanet_428 node Orphanet_2724 Odontomatosis - aortae esophagus stenosis null http://www.orpha.net/ORDO/Orphanet_2724 node EFO_0007719 carotid artery external diameter measurement null http://www.ebi.ac.uk/efo/EFO_0007719 node EFO_0002792 HGF null http://www.ebi.ac.uk/efo/EFO_0002792 node MONDO_0100157 Imerslund-Grasbeck syndrome type 2 null http://purl.obolibrary.org/obo/MONDO_0100157 node HP_0001928 Abnormality of coagulation null http://purl.obolibrary.org/obo/HP_0001928 node EFO_0002811 3T3-F442A null http://www.ebi.ac.uk/efo/EFO_0002811 node Orphanet_280654 Autosomal recessive nail dysplasia null http://www.orpha.net/ORDO/Orphanet_280654 node CL_0002105 CD38-positive IgG memory B cell null http://purl.obolibrary.org/obo/CL_0002105 node Orphanet_93450 Primary bone dysplasia with disorganized development of skeletal components null http://www.orpha.net/ORDO/Orphanet_93450 node EFO_1000833 balanitis null http://www.ebi.ac.uk/efo/EFO_1000833 node UBERON_0001461 elbow null http://purl.obolibrary.org/obo/UBERON_0001461 node EFO_0003855 intestinal polyp null http://www.ebi.ac.uk/efo/EFO_0003855 node CL_0000991 CD11c-negative plasmacytoid dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000004)(PMID:19243617). These cells are CD281-positive (TLR1), CD286-positive (TLR6), and CD290-positive (TLR10). http://purl.obolibrary.org/obo/CL_0000991 node Orphanet_325357 46,XY disorder of sex development due to impaired androgen production null http://www.orpha.net/ORDO/Orphanet_325357 node Orphanet_2812 Parana hard-skin syndrome null http://www.orpha.net/ORDO/Orphanet_2812 node Orphanet_157846 Neuroferritinopathy Editor note: consider relation to basal ganglia http://www.orpha.net/ORDO/Orphanet_157846 node EFO_0002857 SHEP-SF null http://www.ebi.ac.uk/efo/EFO_0002857 node EFO_0007807 erythrocyte cadmium measurement null http://www.ebi.ac.uk/efo/EFO_0007807 node EFO_0004573 chemerin measurement null http://www.ebi.ac.uk/efo/EFO_0004573 node MONDO_0003641 central nervous system hematopoietic neoplasm null http://purl.obolibrary.org/obo/MONDO_0003641 node UBERON_0008998 vasculature of brain null http://purl.obolibrary.org/obo/UBERON_0008998 node Orphanet_140917 Stapes ankylosis with broad thumbs and toes null http://www.orpha.net/ORDO/Orphanet_140917 node Orphanet_98142 Partial autosomal monosomy null http://www.orpha.net/ORDO/Orphanet_98142 node EFO_0007061 passage number null http://www.ebi.ac.uk/efo/EFO_0007061 node NCBITaxon_4528 Oryza longistaminata null http://purl.obolibrary.org/obo/NCBITaxon_4528 node EFO_0003943 humerus fracture null http://www.ebi.ac.uk/efo/EFO_0003943 node HP_0001800 Hypoplastic toenails null http://purl.obolibrary.org/obo/HP_0001800 node PO_0006085 root meristem null http://purl.obolibrary.org/obo/PO_0006085 node HP_0001623 Breech presentation null http://purl.obolibrary.org/obo/HP_0001623 node Orphanet_294935 Split hand or/and split foot malformation Editor note: Orphanet has this under terminal limb defects (which is a type of non-syndromic defect) which leads to inconsistency when placing syndromic forms (e.g. SHF1 with sensorienural hearing loss) http://www.orpha.net/ORDO/Orphanet_294935 node NCBITaxon_439688 Sedum alfredii null http://purl.obolibrary.org/obo/NCBITaxon_439688 node Orphanet_404584 Rare genetic bone development disorder null http://www.orpha.net/ORDO/Orphanet_404584 node MONDO_0003922 ovarian clear cell malignant adenofibroma null http://purl.obolibrary.org/obo/MONDO_0003922 node NCBITaxon_148305 Magnaporthe grisea null http://purl.obolibrary.org/obo/NCBITaxon_148305 node EFO_0001095 BT483 null http://www.ebi.ac.uk/efo/EFO_0001095 node Orphanet_163931 Acrodermatitis continua suppurativa of Hallopeau null http://www.orpha.net/ORDO/Orphanet_163931 node Orphanet_99954 Charcot-Marie-Tooth disease type 4H null http://www.orpha.net/ORDO/Orphanet_99954 node Orphanet_209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase null http://www.orpha.net/ORDO/Orphanet_209024 node Orphanet_300345 Autosomal recessive systemic lupus erythematosus Editor note: it is not clear what the ORDO class Orphanet:300345 should be equivalent to, see https://github.com/monarch-initiative/mondo/issues/1164 http://www.orpha.net/ORDO/Orphanet_300345 node CHEBI_48028 HC toxin null http://purl.obolibrary.org/obo/CHEBI_48028 node Orphanet_73217 Müllerian aplasia null http://www.orpha.net/ORDO/Orphanet_73217 node UO_0000201 cells per milliliter null http://purl.obolibrary.org/obo/UO_0000201 node EFO_0009188 Red cell distribution width null http://www.ebi.ac.uk/efo/EFO_0009188 node UBERON_0001830 minor salivary gland There are over 600 minor salivary glands located throughout the oral cavity within the lamina propria of the oral mucosa. They are 1-2mm in diameter and unlike the other glands, they are not encapsulated by connective tissue only surrounded by it. The gland is usually a number of acini connected in a tiny lobule. A minor salivary gland may have a common excretory duct with another gland, or may have its own excretory duct. Their secretion is mainly mucous in nature (except for von Ebner's glands) and have many functions such as coating the oral cavity with saliva[WP]. http://purl.obolibrary.org/obo/UBERON_0001830 node MONDO_0016629 hemorrhagic disorder due to a platelet anomaly null http://purl.obolibrary.org/obo/MONDO_0016629 node EFO_0001360 type II diabetes mellitus null http://www.ebi.ac.uk/efo/EFO_0001360 node EFO_1001406 Prosthesis-Related Infections null http://www.ebi.ac.uk/efo/EFO_1001406 node EFO_0004428 FAIRE-seq null http://www.ebi.ac.uk/efo/EFO_0004428 node EFO_0000538 hypertrophic cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_0000538 node EFO_0004909 dihydrotestosterone measurement null http://www.ebi.ac.uk/efo/EFO_0004909 node Orphanet_319605 X-linked mendelian susceptibility to mycobacterial diseases null http://www.orpha.net/ORDO/Orphanet_319605 node EFO_1001219 trigeminal neuralgia null http://www.ebi.ac.uk/efo/EFO_1001219 node EFO_1001804 Livedo reticularis null http://www.ebi.ac.uk/efo/EFO_1001804 node HP_0002108 Spontaneous pneumothorax null http://purl.obolibrary.org/obo/HP_0002108 node EFO_0006733 PE/CA-PJ15 null http://www.ebi.ac.uk/efo/EFO_0006733 node Orphanet_36355 P2Y12 defect null http://www.orpha.net/ORDO/Orphanet_36355 node MONDO_0004567 ileus null http://purl.obolibrary.org/obo/MONDO_0004567 node UO_0000102 nanoliter null http://purl.obolibrary.org/obo/UO_0000102 node EFO_0010677 cytological, histological or immunological finding null http://www.ebi.ac.uk/efo/EFO_0010677 node MONDO_0016717 choroid plexus neoplasm Editor note: see ticket on ncit tracker http://purl.obolibrary.org/obo/MONDO_0016717 node EFO_0003141 LK-2 null http://www.ebi.ac.uk/efo/EFO_0003141 node Orphanet_401805 Autosomal recessive spastic paraplegia type 63 null http://www.orpha.net/ORDO/Orphanet_401805 node EFO_0010063 Therapeutic Procedure null http://www.ebi.ac.uk/efo/EFO_0010063 node NCBITaxon_3920 Vigna unguiculata subsp. unguiculata null http://purl.obolibrary.org/obo/NCBITaxon_3920 node NCBITaxon_172680 Chlamydotis undulata null http://purl.obolibrary.org/obo/NCBITaxon_172680 node UBERON_0001051 hypopharynx null http://purl.obolibrary.org/obo/UBERON_0001051 node CHEBI_45863 paclitaxel null http://purl.obolibrary.org/obo/CHEBI_45863 node EFO_0003469 obsolete_pelvic fin bud null http://www.ebi.ac.uk/efo/EFO_0003469 node MONDO_0000890 Zika virus congenital syndrome null http://purl.obolibrary.org/obo/MONDO_0000890 node EFO_0004516 bone fracture related measurement null http://www.ebi.ac.uk/efo/EFO_0004516 node NCBITaxon_4097 Nicotiana tabacum null http://purl.obolibrary.org/obo/NCBITaxon_4097 node EFO_1001307 dumping syndrome null http://www.ebi.ac.uk/efo/EFO_1001307 node HP_0005180 Tricuspid regurgitation This term should not be applied to Ebstein's anomaly of the tricuspid valve (see HP:0010316). http://purl.obolibrary.org/obo/HP_0005180 node MONDO_0020147 anophthalmia-microphthalmia syndrome null http://purl.obolibrary.org/obo/MONDO_0020147 node EFO_0006821 trans fatty acid measurement null http://www.ebi.ac.uk/efo/EFO_0006821 node NCBITaxon_54388 Salmonella enterica subsp. enterica serovar Paratyphi A null http://purl.obolibrary.org/obo/NCBITaxon_54388 node Orphanet_1450 Ring chromosome 8 null http://www.orpha.net/ORDO/Orphanet_1450 node Orphanet_94145 Autosomal dominant cerebellar ataxia type 1 null http://www.orpha.net/ORDO/Orphanet_94145 node EFO_0010284 hepatobiliary disease null http://www.ebi.ac.uk/efo/EFO_0010284 node EFO_0007583 blood nickel measurement null http://www.ebi.ac.uk/efo/EFO_0007583 node EFO_0006634 LCLC-103H null http://www.ebi.ac.uk/efo/EFO_0006634 node Orphanet_2590 Hereditary myoclonus - progressive distal muscular atrophy null http://www.orpha.net/ORDO/Orphanet_2590 node HP_0012098 Edema of the dorsum of feet null http://purl.obolibrary.org/obo/HP_0012098 node Orphanet_1263 Boomerang dysplasia null http://www.orpha.net/ORDO/Orphanet_1263 node Orphanet_98880 Familial afibrinogenemia null http://www.orpha.net/ORDO/Orphanet_98880 node EFO_0000157 CS57884 null http://www.ebi.ac.uk/efo/EFO_0000157 node EFO_0003076 thyrocyte null http://www.ebi.ac.uk/efo/EFO_0003076 node Orphanet_166466 Neurocutaneous syndrome with epilepsy null http://www.orpha.net/ORDO/Orphanet_166466 node EFO_0007889 dysmenorrheic pain measurement null http://www.ebi.ac.uk/efo/EFO_0007889 node CHEBI_37930 phenothiazine antipsychotic drug null http://purl.obolibrary.org/obo/CHEBI_37930 node Orphanet_1671 Diastematomyelia null http://www.orpha.net/ORDO/Orphanet_1671 node CHEBI_35418 N-acetylneuraminate null http://purl.obolibrary.org/obo/CHEBI_35418 node Orphanet_1515 Cranioectodermal dysplasia null http://www.orpha.net/ORDO/Orphanet_1515 node CHEBI_3745 clindamycin null http://purl.obolibrary.org/obo/CHEBI_3745 node EFO_0005724 MM.1S null http://www.ebi.ac.uk/efo/EFO_0005724 node MONDO_0001967 gonadal dysgenesis null http://purl.obolibrary.org/obo/MONDO_0001967 node Orphanet_79241 Biotinidase deficiency null http://www.orpha.net/ORDO/Orphanet_79241 node EFO_0010372 phosphatidylcholine 32:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010372 node EFO_0007671 folding of antihelix null http://www.ebi.ac.uk/efo/EFO_0007671 node EFO_0010853 HG02884 null http://www.ebi.ac.uk/efo/EFO_0010853 node Orphanet_2491 Müllerian duct anomalies - limb anomalies null http://www.orpha.net/ORDO/Orphanet_2491 node MONDO_0060711 Jaberi-Elahi syndrome null http://purl.obolibrary.org/obo/MONDO_0060711 node CL_0002496 intraepithelial lymphocyte null http://purl.obolibrary.org/obo/CL_0002496 node CHEBI_9008 salicyluric acid null http://purl.obolibrary.org/obo/CHEBI_9008 node Orphanet_261537 Mowat-Wilson syndrome due to monosomy 2q22 null http://www.orpha.net/ORDO/Orphanet_261537 node CHEBI_5118 fluoxetine null http://purl.obolibrary.org/obo/CHEBI_5118 node Orphanet_209973 Benign familial nocturnal alternating hemiplegia of childhood null http://www.orpha.net/ORDO/Orphanet_209973 node Orphanet_102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability null http://www.orpha.net/ORDO/Orphanet_102283 node HP_0011025 Abnormal cardiovascular system physiology null http://purl.obolibrary.org/obo/HP_0011025 node CLO_0016568 GM17744 null http://purl.obolibrary.org/obo/CLO_0016568 node PO_0007027 whole plant fruit formation stage 70% to final size Succeeded by a whole plant fruit ripening stage (PO:0007010). This terms is best used for plant with more or less synchronous fruit development and can only be used of the final size of the fruit is known. This stage is to be used for the development stage of a whole plant (PO:0000003). For an individual fruit, use fruit size 70% to final size stage (PO:0025508). http://purl.obolibrary.org/obo/PO_0007027 node UBERON_2000291 medial octavolateralis nucleus null http://purl.obolibrary.org/obo/UBERON_2000291 node EFO_0009935 Non-steroidal anti-inflammatory and antirheumatic product use measurement null http://www.ebi.ac.uk/efo/EFO_0009935 node CHEBI_50266 prodrug role null http://purl.obolibrary.org/obo/CHEBI_50266 node NCBITaxon_252598 Saccharomyces boulardii null http://purl.obolibrary.org/obo/NCBITaxon_252598 node MONDO_0002229 ovarian epithelial tumor null http://purl.obolibrary.org/obo/MONDO_0002229 node Orphanet_65682 Benign recurrent intrahepatic cholestasis null http://www.orpha.net/ORDO/Orphanet_65682 node Orphanet_64755 Becker nevus syndrome null http://www.orpha.net/ORDO/Orphanet_64755 node CLO_0016362 ND01737 null http://purl.obolibrary.org/obo/CLO_0016362 node CL_0001013 mature interstitial dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000025)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001013 node UBERON_0006862 diaphysis of femur null http://purl.obolibrary.org/obo/UBERON_0006862 node Orphanet_216873 Atypical pantothenate kinase-associated neurodegeneration null http://www.orpha.net/ORDO/Orphanet_216873 node EFO_0005239 aortic valve calcification null http://www.ebi.ac.uk/efo/EFO_0005239 node CL_0000015 male germ cell null http://purl.obolibrary.org/obo/CL_0000015 node MONDO_0001684 exocrine pancreatic insufficiency null http://purl.obolibrary.org/obo/MONDO_0001684 node EFO_0001765 dye swap design null http://www.ebi.ac.uk/efo/EFO_0001765 node EFO_1001886 Endoplasmic Reticulum Stress null http://www.ebi.ac.uk/efo/EFO_1001886 node EFO_0008438 growth hormone measurement null http://www.ebi.ac.uk/efo/EFO_0008438 node MONDO_0002317 central nervous system origin vertigo null http://purl.obolibrary.org/obo/MONDO_0002317 node Orphanet_280142 Severe combined immunodeficiency due to LCK deficiency null http://www.orpha.net/ORDO/Orphanet_280142 node Orphanet_93384 Brachydactyly type C null http://www.orpha.net/ORDO/Orphanet_93384 node EFO_0006457 MX-1 null http://www.ebi.ac.uk/efo/EFO_0006457 node MONDO_0020647 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome null http://purl.obolibrary.org/obo/MONDO_0020647 node MONDO_0001744 angle-closure glaucoma null http://purl.obolibrary.org/obo/MONDO_0001744 node NCBITaxon_1642 Listeria innocua null http://purl.obolibrary.org/obo/NCBITaxon_1642 node HP_0004060 Trident hand This abnormality is often seen in patients with achondroplasia. http://purl.obolibrary.org/obo/HP_0004060 node CHEBI_58165 3',5'-cyclic AMP(1-) null http://purl.obolibrary.org/obo/CHEBI_58165 node EFO_1001493 cardiac embolism null http://www.ebi.ac.uk/efo/EFO_1001493 node MONDO_0019717 chromosomal disease with overgrowth null http://purl.obolibrary.org/obo/MONDO_0019717 node NCBITaxon_64091 Halobacterium sp. NRC-1 null http://purl.obolibrary.org/obo/NCBITaxon_64091 node EFO_1001974 uterine leiomyosarcoma null http://www.ebi.ac.uk/efo/EFO_1001974 node EFO_0004996 type 1 diabetes nephropathy null http://www.ebi.ac.uk/efo/EFO_0004996 node Orphanet_207 Crouzon disease null http://www.orpha.net/ORDO/Orphanet_207 node EFO_1000389 Myofibroma null http://www.ebi.ac.uk/efo/EFO_1000389 node Orphanet_3267 Familial lambdoid synostosis null http://www.orpha.net/ORDO/Orphanet_3267 node EFO_0009851 muscle atrophy null http://www.ebi.ac.uk/efo/EFO_0009851 node EFO_0002381 obsolete_THP1 null http://www.ebi.ac.uk/efo/EFO_0002381 node MONDO_0002628 peripheral osteosarcoma null http://purl.obolibrary.org/obo/MONDO_0002628 node Orphanet_98791 Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16 null http://www.orpha.net/ORDO/Orphanet_98791 node HP_0010886 Osteochondritis Dissecans Joints that are most often affected by Osteochondrosis dissecans are elbow and hip, but also wrist and ankel joints. http://purl.obolibrary.org/obo/HP_0010886 node EFO_1001376 Necrobiotic Xanthogranuloma null http://www.ebi.ac.uk/efo/EFO_1001376 node UBERON_0001053 arthropod neurohemal organ brain areas from which substances enter blood for example, the neurohypophysis from which oxytocin and vasopressin enter blood. http://purl.obolibrary.org/obo/UBERON_0001053 node NCBITaxon_57046 Salmonella enterica subsp. enterica serovar Paratyphi C null http://purl.obolibrary.org/obo/NCBITaxon_57046 node MONDO_0014731 seizures-scoliosis-macrocephaly syndrome null http://purl.obolibrary.org/obo/MONDO_0014731 node Orphanet_1597 Distal monosomy 17q null http://www.orpha.net/ORDO/Orphanet_1597 node EFO_0009452 hyperaldosteronism null http://www.ebi.ac.uk/efo/EFO_0009452 node EFO_0008503 hepatitis B virus induced hepatocellular carcinoma null http://www.ebi.ac.uk/efo/EFO_0008503 node EFO_0009829 vascular smooth muscle hypertrophy null http://www.ebi.ac.uk/efo/EFO_0009829 node Orphanet_3355 Trichoodontoonychial dysplasia null http://www.orpha.net/ORDO/Orphanet_3355 node Orphanet_217390 Combined immunodeficiency due to DOCK8 deficiency null http://www.orpha.net/ORDO/Orphanet_217390 node Orphanet_1995 Cleft lip - retinopathy null http://www.orpha.net/ORDO/Orphanet_1995 node Orphanet_70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency null http://www.orpha.net/ORDO/Orphanet_70593 node Orphanet_99645 Dappled diaphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_99645 node Orphanet_3168 Sillence syndrome null http://www.orpha.net/ORDO/Orphanet_3168 node EFO_0002338 SKNFI null http://www.ebi.ac.uk/efo/EFO_0002338 node CLO_0013755 GM17181 null http://purl.obolibrary.org/obo/CLO_0013755 node Orphanet_3005 Pyle disease null http://www.orpha.net/ORDO/Orphanet_3005 node EFO_1000641 congenital nonspherocytic hemolytic anemia null http://www.ebi.ac.uk/efo/EFO_1000641 node CHEBI_64050 N-desmethylclozapine null http://purl.obolibrary.org/obo/CHEBI_64050 node EFO_0010696 soluble gp130 measurement null http://www.ebi.ac.uk/efo/EFO_0010696 node EFO_0004590 obsolete_aspirin induced asthma null http://www.ebi.ac.uk/efo/EFO_0004590 node EFO_0004967 Alexa Fluor 647 null http://www.ebi.ac.uk/efo/EFO_0004967 node EFO_0009540 dental pulp disease null http://www.ebi.ac.uk/efo/EFO_0009540 node Orphanet_206973 Congenital myotonia null http://www.orpha.net/ORDO/Orphanet_206973 node EFO_0007006 depressive symptom measurement null http://www.ebi.ac.uk/efo/EFO_0007006 node MONDO_0014632 hypomyelinating leukodystrophy 10 null http://purl.obolibrary.org/obo/MONDO_0014632 node HP_0002166 Impaired vibration sensation in the lower limbs null http://purl.obolibrary.org/obo/HP_0002166 node EFO_0009353 Anti-Toxoplasma gondii IgG measurement null http://www.ebi.ac.uk/efo/EFO_0009353 node MONDO_0021321 malignant tumor of extrahepatic bile duct null http://purl.obolibrary.org/obo/MONDO_0021321 node HP_0002647 Aortic dissection null http://purl.obolibrary.org/obo/HP_0002647 node MONDO_0016338 non-familial dilated cardiomyopathy null http://purl.obolibrary.org/obo/MONDO_0016338 node Orphanet_402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering null http://www.orpha.net/ORDO/Orphanet_402003 node CHEBI_64215 2,3-dimethoxynaphthalene-1,4-dione null http://purl.obolibrary.org/obo/CHEBI_64215 node CLO_0031612 GM14521 null http://purl.obolibrary.org/obo/CLO_0031612 node EFO_0004119 obsolete_AE experiment type flag null http://www.ebi.ac.uk/efo/EFO_0004119 node EFO_0010784 fibroblast growth factor 5 measurement null http://www.ebi.ac.uk/efo/EFO_0010784 node EFO_0003751 MNase-seq null http://www.ebi.ac.uk/efo/EFO_0003751 node EFO_0000200 plasma cell neoplasm See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/39 http://www.ebi.ac.uk/efo/EFO_0000200 node EFO_1000542 Solid Pseudopapillary Neoplasm of the Pancreas null http://www.ebi.ac.uk/efo/EFO_1000542 node UBERON_0002405 immune system null http://purl.obolibrary.org/obo/UBERON_0002405 node GO_0036288 response to ximelagatran null http://purl.obolibrary.org/obo/GO_0036288 node EFO_0000013 CS57551 null http://www.ebi.ac.uk/efo/EFO_0000013 node Orphanet_276413 10q22.3q23.3 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_276413 node EFO_1001773 Central Nervous System Helminthiasis null http://www.ebi.ac.uk/efo/EFO_1001773 node HP_0010508 Metatarsus valgus null http://purl.obolibrary.org/obo/HP_0010508 node EFO_0001005 plant sperm null http://www.ebi.ac.uk/efo/EFO_0001005 node UBERON_0002196 adenohypophysis null http://purl.obolibrary.org/obo/UBERON_0002196 node EFO_0004207 pathological myopia null http://www.ebi.ac.uk/efo/EFO_0004207 node EFO_0000421 obsolete_dorsal metathoracic disc null http://www.ebi.ac.uk/efo/EFO_0000421 node HP_0100508 Abnormality of vitamin metabolism Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes. http://purl.obolibrary.org/obo/HP_0100508 node Orphanet_2971 Peroxisomal acyl-CoA oxidase deficiency null http://www.orpha.net/ORDO/Orphanet_2971 node EFO_0000902 obsolete_cranial ganglion null http://www.ebi.ac.uk/efo/EFO_0000902 node EFO_1001102 peroneal nerve paralysis null http://www.ebi.ac.uk/efo/EFO_1001102 node Orphanet_217638 Lysosomal disease with restrictive cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_217638 node EFO_1000131 Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive null http://www.ebi.ac.uk/efo/EFO_1000131 node MONDO_0015853 deficient breast volume or number null http://purl.obolibrary.org/obo/MONDO_0015853 node EFO_0005532 angioedema null http://www.ebi.ac.uk/efo/EFO_0005532 node EFO_0004605 viral RNA data null http://www.ebi.ac.uk/efo/EFO_0004605 node EFO_0000715 survival probability null http://www.ebi.ac.uk/efo/EFO_0000715 node NCBITaxon_238854 Synechococcus phage S-PM2 null http://purl.obolibrary.org/obo/NCBITaxon_238854 node EFO_0003634 obsolete_pharyngeal pouch 3 null http://www.ebi.ac.uk/efo/EFO_0003634 node Orphanet_96266 Leydig cell hypoplasia due to partial LH resistance null http://www.orpha.net/ORDO/Orphanet_96266 node Orphanet_183622 Genetic respiratory malformation null http://www.orpha.net/ORDO/Orphanet_183622 node CLO_0013947 GM17149 null http://purl.obolibrary.org/obo/CLO_0013947 node Orphanet_96195 Paternal uniparental disomy of chromosome 21 null http://www.orpha.net/ORDO/Orphanet_96195 node Orphanet_3402 Transient tyrosinemia of the newborn null http://www.orpha.net/ORDO/Orphanet_3402 node MONDO_0000712 FTDALS null http://purl.obolibrary.org/obo/MONDO_0000712 node EFO_0005212 atmosphere unit null http://www.ebi.ac.uk/efo/EFO_0005212 node NCBITaxon_7868 Callorhinchus milii null http://purl.obolibrary.org/obo/NCBITaxon_7868 node EFO_0010930 TNF-related apoptosis-inducing ligand receptor 2 measurement null http://www.ebi.ac.uk/efo/EFO_0010930 node MONDO_0056799 synovium disease null http://purl.obolibrary.org/obo/MONDO_0056799 node MONDO_0017634 non-infectious anterior uveitis null http://purl.obolibrary.org/obo/MONDO_0017634 node EFO_0007978 red blood cell density measurement null http://www.ebi.ac.uk/efo/EFO_0007978 node EFO_0000322 obsolete_cell line null http://www.ebi.ac.uk/efo/EFO_0000322 node EFO_0005620 lung adenocarcinoma grade null http://www.ebi.ac.uk/efo/EFO_0005620 node EFO_0000803 obsolete_renal system null http://www.ebi.ac.uk/efo/EFO_0000803 node Orphanet_183710 Genetic susceptibility to infections due to particular pathogens Editor note: todo logical definition http://www.orpha.net/ORDO/Orphanet_183710 node MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease null http://purl.obolibrary.org/obo/MONDO_0017020 node ZFA_0000257 pectoral fin cartilage null http://purl.obolibrary.org/obo/ZFA_0000257 node MONDO_0022963 desmoplastic infantile astrocytoma null http://purl.obolibrary.org/obo/MONDO_0022963 node CL_0000969 regulatory B cell Regulatory B cells reportedly represent 1-2% of the spleen and 7-8% of the peritoneal B220-positive cells in mice. They are also found in the bone marrow, lymph node, and blood of mice. These cells are also reportedly capable of secreting IL-10 and are reportedly CD5-positive, CD21-positive, CD24-positive, CD93-negative, B220-positive, IgM-positive, and IgD-positive. http://purl.obolibrary.org/obo/CL_0000969 node Orphanet_481 Kennedy disease An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR. http://www.orpha.net/ORDO/Orphanet_481 node MONDO_0022800 collagenopathy type 2 alpha 1 Editor note: TODO merge with ordo class or obsolete http://purl.obolibrary.org/obo/MONDO_0022800 node Orphanet_96096 Distal trisomy 4q null http://www.orpha.net/ORDO/Orphanet_96096 node Orphanet_352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Not in the OMIM series. http://www.orpha.net/ORDO/Orphanet_352670 node MONDO_0022096 pyogenic granuloma null http://purl.obolibrary.org/obo/MONDO_0022096 node EFO_0007585 Cannabis use null http://www.ebi.ac.uk/efo/EFO_0007585 node Orphanet_85321 Deafness - intellectual disability, Martin-Probst type null http://www.orpha.net/ORDO/Orphanet_85321 node Orphanet_53296 Familial cutaneous collagenoma null http://www.orpha.net/ORDO/Orphanet_53296 node MONDO_0021144 ovarian clear cell tumor null http://purl.obolibrary.org/obo/MONDO_0021144 node MONDO_0008848 atrioventricular dissociation (disease) null http://purl.obolibrary.org/obo/MONDO_0008848 node EFO_0008908 SCI-seq null http://www.ebi.ac.uk/efo/EFO_0008908 node EFO_0005503 gastrulating embryo Ce null http://www.ebi.ac.uk/efo/EFO_0005503 node CHEBI_17033 biliverdin null http://purl.obolibrary.org/obo/CHEBI_17033 node Orphanet_98819 Familial temporal epilepsy null http://www.orpha.net/ORDO/Orphanet_98819 node CL_0000576 monocyte Morphology: Mononuclear cell, diameter, 14 to 20 _M, N/C ratio 2:1-1:1. Nucleus may appear in variety of shapes: round, kidney, lobulated, or convoluted. Fine azurophilic granules present; markers: CD11b (shared with other myeloid cells), human: CD14, mouse: F4/80-mid,GR1-low; location: Blood, but can be recruited into tissues; role or process: immune & tissue remodelling; lineage: hematopoietic, myeloid. http://purl.obolibrary.org/obo/CL_0000576 node EFO_0008695 CNV-Seq null http://www.ebi.ac.uk/efo/EFO_0008695 node OBI_0400112 liquid handler null http://purl.obolibrary.org/obo/OBI_0400112 node EFO_0007673 superior crus of antihelix expression null http://www.ebi.ac.uk/efo/EFO_0007673 node Orphanet_382 Guanidinoacetate methyltransferase deficiency null http://www.orpha.net/ORDO/Orphanet_382 node EFO_0007510 tinea Editor note: consider obsoleting as this is a loose grouping http://www.ebi.ac.uk/efo/EFO_0007510 node CL_0002534 mature CD16-positive myeloid dendritic cell null http://purl.obolibrary.org/obo/CL_0002534 node Orphanet_34587 Glycogen storage disease due to LAMP-2 deficiency null http://www.orpha.net/ORDO/Orphanet_34587 node Orphanet_98907 Dorfman-Chanarin disease null http://www.orpha.net/ORDO/Orphanet_98907 node PO_0009049 inflorescence Some plants have only solitary flowers, e.g. Magnolia. http://purl.obolibrary.org/obo/PO_0009049 node CL_0002357 fetal derived definitive erythrocyte null http://purl.obolibrary.org/obo/CL_0002357 node UBERON_0001769 iris null http://purl.obolibrary.org/obo/UBERON_0001769 node UBERON_6005434 visual anlage null http://purl.obolibrary.org/obo/UBERON_6005434 node NCBITaxon_1496 Clostridium difficile null http://purl.obolibrary.org/obo/NCBITaxon_1496 node MONDO_0024516 familial acne inversa null http://purl.obolibrary.org/obo/MONDO_0024516 node Orphanet_768 Familial long QT syndrome null http://www.orpha.net/ORDO/Orphanet_768 node CL_0002037 CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell null http://purl.obolibrary.org/obo/CL_0002037 node EFO_0001087 AU565 null http://www.ebi.ac.uk/efo/EFO_0001087 node EFO_1000947 gastric outlet obstruction null http://www.ebi.ac.uk/efo/EFO_1000947 node EFO_1001184 small cell sarcoma null http://www.ebi.ac.uk/efo/EFO_1001184 node EFO_0007411 Orthomyxoviridae infectious disease null http://www.ebi.ac.uk/efo/EFO_0007411 node CL_0002445 Ly49D-negative natural killer cell, mouse null http://purl.obolibrary.org/obo/CL_0002445 node EFO_0004687 obsolete_inherited arrhythmia null http://www.ebi.ac.uk/efo/EFO_0004687 node HP_0000175 Cleft palate Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. http://purl.obolibrary.org/obo/HP_0000175 node EFO_0002789 GM19239 null http://www.ebi.ac.uk/efo/EFO_0002789 node EFO_0007362 mediastinal cancer null http://www.ebi.ac.uk/efo/EFO_0007362 node EFO_0002808 4475 null http://www.ebi.ac.uk/efo/EFO_0002808 node EFO_0007175 blind loop syndrome null http://www.ebi.ac.uk/efo/EFO_0007175 node CLO_0023795 GM10833 null http://purl.obolibrary.org/obo/CLO_0023795 node UBERON_0001645 trigeminal nerve null http://purl.obolibrary.org/obo/UBERON_0001645 node MONDO_0002319 phosphorus metabolism disease null http://purl.obolibrary.org/obo/MONDO_0002319 node HP_0010577 Absent epiphyses null http://purl.obolibrary.org/obo/HP_0010577 node MONDO_0024417 perceptual disorders null http://purl.obolibrary.org/obo/MONDO_0024417 node HP_0005881 Spinal instability null http://purl.obolibrary.org/obo/HP_0005881 node EFO_0001175 HCC1954 null http://www.ebi.ac.uk/efo/EFO_0001175 node EFO_0000591 obsolete_mitochondrial disorder null http://www.ebi.ac.uk/efo/EFO_0000591 node EFO_1001272 bacterial pneumonia null http://www.ebi.ac.uk/efo/EFO_1001272 node Orphanet_598 Multiminicore myopathy null http://www.orpha.net/ORDO/Orphanet_598 node MONDO_0026722 Mullegama-Klein-Martinez syndrome null http://purl.obolibrary.org/obo/MONDO_0026722 node EFO_0004775 toxic epidermal necrolysis null http://www.ebi.ac.uk/efo/EFO_0004775 node CHEBI_35842 antirheumatic drug null http://purl.obolibrary.org/obo/CHEBI_35842 node EFO_0006318 breast ductal adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0006318 node CHEBI_6651 malathion null http://purl.obolibrary.org/obo/CHEBI_6651 node EFO_1001085 paraneoplastic polyneuropathy null http://www.ebi.ac.uk/efo/EFO_1001085 node EFO_0008190 interleukin 7 receptor subunit alpha measurement null http://www.ebi.ac.uk/efo/EFO_0008190 node EFO_0003133 HCC44 null http://www.ebi.ac.uk/efo/EFO_0003133 node EFO_0007263 equine infectious anemia null http://www.ebi.ac.uk/efo/EFO_0007263 node EFO_0002029 software null http://www.ebi.ac.uk/efo/EFO_0002029 node Orphanet_99810 Familial porencephaly null http://www.orpha.net/ORDO/Orphanet_99810 node Orphanet_94088 Hereditary renal hypouricemia null http://www.orpha.net/ORDO/Orphanet_94088 node Orphanet_1072 Ankyloblepharon filiforme adnatum - cleft palate null http://www.orpha.net/ORDO/Orphanet_1072 node EFO_0009304 percent glycated albumin null http://www.ebi.ac.uk/efo/EFO_0009304 node EFO_0009231 Reticulocyte Hemoglobin Distribution Width null http://www.ebi.ac.uk/efo/EFO_0009231 node UBERON_0003903 bursa of Fabricius null http://purl.obolibrary.org/obo/UBERON_0003903 node MONDO_0003169 diencephalic astrocytomas null http://purl.obolibrary.org/obo/MONDO_0003169 node NCBITaxon_2271 Thermoproteus tenax null http://purl.obolibrary.org/obo/NCBITaxon_2271 node EFO_0006406 G22 null http://www.ebi.ac.uk/efo/EFO_0006406 node EFO_0003354 obsolete_labial sensory complex primordium null http://www.ebi.ac.uk/efo/EFO_0003354 node EFO_0004177 Micrococcal Nuclease digestion null http://www.ebi.ac.uk/efo/EFO_0004177 node CHEBI_39352 dinitrophenol null http://purl.obolibrary.org/obo/CHEBI_39352 node EFO_0002383 Toledo null http://www.ebi.ac.uk/efo/EFO_0002383 node EFO_0001456 DNA assay null http://www.ebi.ac.uk/efo/EFO_0001456 node EFO_0002503 cardiac hypertrophy null http://www.ebi.ac.uk/efo/EFO_0002503 node EFO_0000872 obsolete_lymph node null http://www.ebi.ac.uk/efo/EFO_0000872 node EFO_0009608 stomach disease null http://www.ebi.ac.uk/efo/EFO_0009608 node EFO_0009044 Fanconi anemia complementation group A null http://www.ebi.ac.uk/efo/EFO_0009044 node MONDO_0015643 photosensitive epilepsy null http://purl.obolibrary.org/obo/MONDO_0015643 node Orphanet_101016 Romano-Ward syndrome null http://www.orpha.net/ORDO/Orphanet_101016 node Orphanet_261983 Partial deletion of the short arm of chromosome 19 null http://www.orpha.net/ORDO/Orphanet_261983 node EFO_0000093 obsolete_B-precursor acute lymphoblastic leukemia null http://www.ebi.ac.uk/efo/EFO_0000093 node Orphanet_319160 Congenital myopathy with internal nuclei and atypical cores null http://www.orpha.net/ORDO/Orphanet_319160 node EFO_0003442 obsolete_presumptive diencephalon null http://www.ebi.ac.uk/efo/EFO_0003442 node Orphanet_261796 Partial deletion of chromosome 7 null http://www.orpha.net/ORDO/Orphanet_261796 node Orphanet_306617 X-linked complicated spastic paraplegia type 1 null http://www.orpha.net/ORDO/Orphanet_306617 node Orphanet_1381 Cataract - intellectual disability - anal atresia - urinary defects null http://www.orpha.net/ORDO/Orphanet_1381 node NCBITaxon_3348 Pinus strobus null http://purl.obolibrary.org/obo/NCBITaxon_3348 node EFO_0009132 cholesterol efflux capacity measurement null http://www.ebi.ac.uk/efo/EFO_0009132 node Orphanet_397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome null http://www.orpha.net/ORDO/Orphanet_397623 node EFO_0010177 lobar intracerebral hemorrhage null http://www.ebi.ac.uk/efo/EFO_0010177 node EFO_0010658 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia null http://www.ebi.ac.uk/efo/EFO_0010658 node EFO_0004071 CEW1 null http://www.ebi.ac.uk/efo/EFO_0004071 node MONDO_0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade null http://purl.obolibrary.org/obo/MONDO_0015063 node Orphanet_289377 Early-onset myopathy with fatal cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_289377 node EFO_0000181 head and neck squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0000181 node EFO_0003530 obsolete_anguloarticular null http://www.ebi.ac.uk/efo/EFO_0003530 node Orphanet_261884 Partial deletion of the short arm of chromosome 4 null http://www.orpha.net/ORDO/Orphanet_261884 node Orphanet_1359 Carney complex null http://www.orpha.net/ORDO/Orphanet_1359 node UBERON_0004740 basibranchial bone null http://purl.obolibrary.org/obo/UBERON_0004740 node Orphanet_93221 Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes null http://www.orpha.net/ORDO/Orphanet_93221 node EFO_0004292 vaccination null http://www.ebi.ac.uk/efo/EFO_0004292 node EFO_0010879 HG03432 null http://www.ebi.ac.uk/efo/EFO_0010879 node CHEBI_27622 vanillylmandelate null http://purl.obolibrary.org/obo/CHEBI_27622 node CL_0005019 pancreatic epsilon cell In mammals the endocrine pancreas is called the Islets of Langerhans. http://purl.obolibrary.org/obo/CL_0005019 node NCBITaxon_3917 Vigna unguiculata null http://purl.obolibrary.org/obo/NCBITaxon_3917 node MONDO_0037872 bordetellosis B. bronchiseptica infects a wide range of mammals (including humans), whereas B. pertussis infects only humans and, under experimental conditions, mice and pigs. In contrast, B. parapertussis, also a causative agent of pertussis, displays a unique host specificity with 2 subgroups, one infecting only humans and the other infecting only sheep. http://purl.obolibrary.org/obo/MONDO_0037872 node HP_0006337 Premature eruption of permanent teeth null http://purl.obolibrary.org/obo/HP_0006337 node EFO_0003027 acute myeloblastic leukemia without maturation null http://www.ebi.ac.uk/efo/EFO_0003027 node MONDO_0021506 benign neoplasm of spinal cord null http://purl.obolibrary.org/obo/MONDO_0021506 node EFO_0007922 response to sulfonylurea null http://www.ebi.ac.uk/efo/EFO_0007922 node Orphanet_95433 Autosomal recessive cerebellar ataxia - blindness - deafness null http://www.orpha.net/ORDO/Orphanet_95433 node EFO_0007745 lactate measurement null http://www.ebi.ac.uk/efo/EFO_0007745 node EFO_0006818 stricture null http://www.ebi.ac.uk/efo/EFO_0006818 node Orphanet_1447 Ring chromosome 4 null http://www.orpha.net/ORDO/Orphanet_1447 node Orphanet_404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency null http://www.orpha.net/ORDO/Orphanet_404440 node EFO_1000226 Dysplasia in Ulcerative Colitis null http://www.ebi.ac.uk/efo/EFO_1000226 node GO_0006464 cellular protein modification process null http://purl.obolibrary.org/obo/GO_0006464 node MONDO_0045011 keratinization disease null http://purl.obolibrary.org/obo/MONDO_0045011 node HP_0000762 Decreased nerve conduction velocity Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy. http://purl.obolibrary.org/obo/HP_0000762 node EFO_0008772 hyRAD null http://www.ebi.ac.uk/efo/EFO_0008772 node NCBITaxon_29544 Azoarcus sp. null http://purl.obolibrary.org/obo/NCBITaxon_29544 node EFO_1000314 Kidney Medullary Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000314 node EFO_0010369 lysophosphatidylethanolamine 18:2 measurement null http://www.ebi.ac.uk/efo/EFO_0010369 node UBERON_0005507 rhombomere 3 null http://purl.obolibrary.org/obo/UBERON_0005507 node EFO_0005059 acylcarnitine measurement null http://www.ebi.ac.uk/efo/EFO_0005059 node MONDO_0000527 colon adenoma null http://purl.obolibrary.org/obo/MONDO_0000527 node UBERON_6005037 tracheal primordium null http://purl.obolibrary.org/obo/UBERON_6005037 node Orphanet_199296 Congenital isolated ACTH deficiency null http://www.orpha.net/ORDO/Orphanet_199296 node Orphanet_2920 Oliver syndrome null http://www.orpha.net/ORDO/Orphanet_2920 node Orphanet_300605 Juvenile amyotrophic lateral sclerosis null http://www.orpha.net/ORDO/Orphanet_300605 node Orphanet_268861 Primary tethered chord syndrome null http://www.orpha.net/ORDO/Orphanet_268861 node UO_0000008 meter null http://purl.obolibrary.org/obo/UO_0000008 node Orphanet_2733 Omodysplasia null http://www.orpha.net/ORDO/Orphanet_2733 node EFO_0008860 Perturb-Seq null http://www.ebi.ac.uk/efo/EFO_0008860 node CLO_0015128 GM17128 null http://purl.obolibrary.org/obo/CLO_0015128 node EFO_0006270 AG04450 null http://www.ebi.ac.uk/efo/EFO_0006270 node MONDO_0012057 legionnaire disease, susceptibility to null http://purl.obolibrary.org/obo/MONDO_0012057 node MONDO_0002785 skull base neoplasm null http://purl.obolibrary.org/obo/MONDO_0002785 node HP_0000733 Stereotypy An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. The behaviour does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps. http://purl.obolibrary.org/obo/HP_0000733 node BTO_0000133 blood serum null http://purl.obolibrary.org/obo/BTO_0000133 node EFO_0007816 response to trametinib null http://www.ebi.ac.uk/efo/EFO_0007816 node Orphanet_2821 Spastic paraplegia - neuropathy - poikiloderma null http://www.orpha.net/ORDO/Orphanet_2821 node Orphanet_268762 Cervical spina bifida cystica null http://www.orpha.net/ORDO/Orphanet_268762 node EFO_0009539 congenital mitral malformation null http://www.ebi.ac.uk/efo/EFO_0009539 node EFO_0007126 Acanthamoeba keratitis null http://www.ebi.ac.uk/efo/EFO_0007126 node EFO_0007053 myelosuppression null http://www.ebi.ac.uk/efo/EFO_0007053 node NCBITaxon_11629 Mopeia virus null http://purl.obolibrary.org/obo/NCBITaxon_11629 node EFO_0009296 mutyh-associated polyposis null http://www.ebi.ac.uk/efo/EFO_0009296 node MONDO_0003181 lung adenoid cystic carcinoma null http://purl.obolibrary.org/obo/MONDO_0003181 node EFO_1001830 precursor T-cell lymphoblastic leukemia-lymphoma null http://www.ebi.ac.uk/efo/EFO_1001830 node MONDO_0020290 atrioventricular septal defect null http://purl.obolibrary.org/obo/MONDO_0020290 node Orphanet_3199 Stimmler syndrome null http://www.orpha.net/ORDO/Orphanet_3199 node EFO_0008755 GRIP null http://www.ebi.ac.uk/efo/EFO_0008755 node NCBITaxon_9598 Pan troglodytes null http://purl.obolibrary.org/obo/NCBITaxon_9598 node BTO_0000221 cell suspension culture null http://purl.obolibrary.org/obo/BTO_0000221 node EFO_0001954 division of carotid artery null http://www.ebi.ac.uk/efo/EFO_0001954 node UBERON_6005436 trunk mesoderm anlage null http://purl.obolibrary.org/obo/UBERON_6005436 node CHEBI_64081 RS 39604 hydrochloride null http://purl.obolibrary.org/obo/CHEBI_64081 node EFO_0007214 common cold null http://www.ebi.ac.uk/efo/EFO_0007214 node EFO_0001264 ZR75B null http://www.ebi.ac.uk/efo/EFO_0001264 node OBI_0000697 Helicos sequencing null http://purl.obolibrary.org/obo/OBI_0000697 node CHEBI_133628 undecanedioic acid anion null http://purl.obolibrary.org/obo/CHEBI_133628 node MONDO_0032937 myopathy, congenital proximal, with minicore lesions null http://purl.obolibrary.org/obo/MONDO_0032937 node EFO_0009384 tumoral calcinosis, hyperphosphatemic, familial, 3 null http://www.ebi.ac.uk/efo/EFO_0009384 node EFO_1000390 Nabothian Cyst Editor note: check this http://www.ebi.ac.uk/efo/EFO_1000390 node MONDO_0020853 encephalitis/encephalopathy, mild, with reversible myelin vacuolization null http://purl.obolibrary.org/obo/MONDO_0020853 node Orphanet_352333 Congenital ichthyosis - intellectual disability - spastic quadriplegia null http://www.orpha.net/ORDO/Orphanet_352333 node EFO_1000808 anterior compartment syndrome null http://www.ebi.ac.uk/efo/EFO_1000808 node MONDO_0004675 mitochondrial encephalomyopathy null http://purl.obolibrary.org/obo/MONDO_0004675 node EFO_0004940 T3 tumor stage null http://www.ebi.ac.uk/efo/EFO_0004940 node Orphanet_3306 Duplication/inversion 15q11 null http://www.orpha.net/ORDO/Orphanet_3306 node EFO_0008843 PAL-seq null http://www.ebi.ac.uk/efo/EFO_0008843 node Orphanet_140474 Autosomal dominant hereditary sensory and autonomic neuropathy null http://www.orpha.net/ORDO/Orphanet_140474 node Orphanet_98098 Autosomal recessive degenerative and progressive cerebellar ataxia null http://www.orpha.net/ORDO/Orphanet_98098 node EFO_0000658 plexiform neurofibroma null http://www.ebi.ac.uk/efo/EFO_0000658 node EFO_0001352 Sprague Dawley null http://www.ebi.ac.uk/efo/EFO_0001352 node MONDO_0024419 enthesitis null http://purl.obolibrary.org/obo/MONDO_0024419 node PO_0000034 vascular system A vascular system consist of the totality of the portions of vascular tissue in their specific arrangement in a plant structure. May include other portions of plant tissue or plant cells (PO:0009002) of other types, such as parenchyma (PO:0005421) or fiber cells (PO:0025407). http://purl.obolibrary.org/obo/PO_0000034 node MONDO_0020460 acquired von willebrand syndrome null http://purl.obolibrary.org/obo/MONDO_0020460 node Orphanet_2347 Lethal Kniest-like dysplasia null http://www.orpha.net/ORDO/Orphanet_2347 node EFO_0003847 mental retardation null http://www.ebi.ac.uk/efo/EFO_0003847 node EFO_0000265 obsolete_aorta null http://www.ebi.ac.uk/efo/EFO_0000265 node CHEBI_35703 xenobiotic null http://purl.obolibrary.org/obo/CHEBI_35703 node EFO_1000157 Central Nervous System Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000157 node EFO_0010922 P-selectin glycoprotein ligand 1 measurement null http://www.ebi.ac.uk/efo/EFO_0010922 node EFO_0000746 proteomic profiling null http://www.ebi.ac.uk/efo/EFO_0000746 node EFO_1000638 Isaacs syndrome null http://www.ebi.ac.uk/efo/EFO_1000638 node EFO_0010735 response to angiotensin receptor blocker null http://www.ebi.ac.uk/efo/EFO_0010735 node EFO_0008051 C-C motif chemokine 3 measurement null http://www.ebi.ac.uk/efo/EFO_0008051 node NCBITaxon_5855 Plasmodium vivax null http://purl.obolibrary.org/obo/NCBITaxon_5855 node MONDO_0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Editor note: Check ORDO class, may refer to more generic class http://purl.obolibrary.org/obo/MONDO_0060596 node EFO_1001901 neuroendocrine neoplasm Editor note: TODO design pattern, often NCIT uses 'neuroendocrine tumor' for particular grading with 'neuroendocrine neoplasm' as the superclass http://www.ebi.ac.uk/efo/EFO_1001901 node MONDO_0044635 diaph1-related sensorineural hearing loss-thrombocytopenia syndrome null http://purl.obolibrary.org/obo/MONDO_0044635 node EFO_0003935 mental health null http://www.ebi.ac.uk/efo/EFO_0003935 node Orphanet_221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies null http://www.orpha.net/ORDO/Orphanet_221145 node EFO_0000353 obsolete_clinical history age null http://www.ebi.ac.uk/efo/EFO_0000353 node EFO_1000245 Epithelioid Malignant Peripheral Nerve Sheath Tumor null http://www.ebi.ac.uk/efo/EFO_1000245 node HP_0010473 Porphyrinuria Porphyrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. One of the best-known porphyrins is heme. http://purl.obolibrary.org/obo/HP_0010473 node EFO_1001034 mastitis null http://www.ebi.ac.uk/efo/EFO_1001034 node EFO_1000726 lichen planus null http://www.ebi.ac.uk/efo/EFO_1000726 node EFO_0003748 MRE-seq null http://www.ebi.ac.uk/efo/EFO_0003748 node EFO_0010342 cholesteryl ester 16:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010342 node EFO_0006594 Hs 936.T null http://www.ebi.ac.uk/efo/EFO_0006594 node MONDO_0005411 gallbladder cancer null http://purl.obolibrary.org/obo/MONDO_0005411 node Orphanet_314381 Hereditary sensory and autonomic neuropathy type 6 null http://www.orpha.net/ORDO/Orphanet_314381 node EFO_0000095 chronic lymphocytic leukemia null http://www.ebi.ac.uk/efo/EFO_0000095 node EFO_0006980 Hi-0 null http://www.ebi.ac.uk/efo/EFO_0006980 node EFO_0005308 atrial tachycardia null http://www.ebi.ac.uk/efo/EFO_0005308 node Orphanet_364028 X-linked intellectual disability due to GRIA3 anomalies null http://www.orpha.net/ORDO/Orphanet_364028 node CHEBI_17754 glycerol null http://purl.obolibrary.org/obo/CHEBI_17754 node CLO_0013208 GM17277 null http://purl.obolibrary.org/obo/CLO_0013208 node Orphanet_154 Familial isolated dilated cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_154 node CL_0000942 thymic plasmacytoid dendritic cell null http://purl.obolibrary.org/obo/CL_0000942 node Orphanet_261529 Ring chromosome Y null http://www.orpha.net/ORDO/Orphanet_261529 node EFO_1000333 Lung Inflammatory Myofibroblastic Tumor null http://www.ebi.ac.uk/efo/EFO_1000333 node CLO_0013137 GM17293 null http://purl.obolibrary.org/obo/CLO_0013137 node EFO_0005529 Chagas cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_0005529 node Orphanet_183619 Genetic eye tumor null http://www.orpha.net/ORDO/Orphanet_183619 node MONDO_0024294 skin disease caused by infection null http://purl.obolibrary.org/obo/MONDO_0024294 node EFO_0002350 SNU475 null http://www.ebi.ac.uk/efo/EFO_0002350 node EFO_0006682 NCI-H2595 null http://www.ebi.ac.uk/efo/EFO_0006682 node Orphanet_1723 Mosaic trisomy 2 null http://www.orpha.net/ORDO/Orphanet_1723 node CHEBI_15889 sterol null http://purl.obolibrary.org/obo/CHEBI_15889 node Orphanet_2278 Ichthyosis - intellectual disability - dwarfism - renal impairment null http://www.orpha.net/ORDO/Orphanet_2278 node MONDO_0008597 trichorhinophalangeal syndrome, type III null http://purl.obolibrary.org/obo/MONDO_0008597 node MONDO_0000865 congenital fiber-type disproportion null http://purl.obolibrary.org/obo/MONDO_0000865 node EFO_0000183 Hodgkins lymphoma null http://www.ebi.ac.uk/efo/EFO_0000183 node Orphanet_330041 Autosomal dominant methemoglobinemia null http://www.orpha.net/ORDO/Orphanet_330041 node CHEBI_73177 brassinazole null http://purl.obolibrary.org/obo/CHEBI_73177 node ZFA_0000778 spinal cord interneuron null http://purl.obolibrary.org/obo/ZFA_0000778 node NCBITaxon_33090 Viridiplantae null http://purl.obolibrary.org/obo/NCBITaxon_33090 node CL_0000825 pro-NK cell Most markers only described for human pro NK cells. http://purl.obolibrary.org/obo/CL_0000825 node Orphanet_178464 Hereditary proximal myopathy with early respiratory failure null http://www.orpha.net/ORDO/Orphanet_178464 node EFO_0005617 thoracic aortic fatty streak null http://www.ebi.ac.uk/efo/EFO_0005617 node MONDO_0021076 pancreatic exocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0021076 node Orphanet_183707 Neutrophil immunodeficiency syndrome null http://www.orpha.net/ORDO/Orphanet_183707 node MONDO_0021661 coronary atherosclerosis null http://purl.obolibrary.org/obo/MONDO_0021661 node UBERON_2000096 cardinal system null http://purl.obolibrary.org/obo/UBERON_2000096 node MONDO_0021474 benign neoplasm of ear null http://purl.obolibrary.org/obo/MONDO_0021474 node EFO_0002861 SQ-5 null http://www.ebi.ac.uk/efo/EFO_0002861 node CL_0000913 effector memory CD8-positive, alpha-beta T cell This cell type is compatible with the HIPC Lyoplate markers for 'effector memory CD8+ T cell', but includes additional markers known to be expressed on effector memory CD8+ T cells. http://purl.obolibrary.org/obo/CL_0000913 node EFO_0002674 ovalbumin null http://www.ebi.ac.uk/efo/EFO_0002674 node EFO_0006577 GR-M null http://www.ebi.ac.uk/efo/EFO_0006577 node EFO_0005705 olfactory neurosphere cell line null http://www.ebi.ac.uk/efo/EFO_0005705 node HP_0003470 Paralysis null http://purl.obolibrary.org/obo/HP_0003470 node Orphanet_53715 Tumoral calcinosis null http://www.orpha.net/ORDO/Orphanet_53715 node CL_0002010 pre-conventional dendritic cell null http://purl.obolibrary.org/obo/CL_0002010 node MONDO_0014963 Shashi-Pena syndrome null http://purl.obolibrary.org/obo/MONDO_0014963 node EFO_0008774 iCLIP null http://www.ebi.ac.uk/efo/EFO_0008774 node Orphanet_280403 Familial omphalocele syndrome with facial dysmorphism null http://www.orpha.net/ORDO/Orphanet_280403 node NCBITaxon_311982 Streptomyces hygroscopicus subsp. jinggangensis null http://purl.obolibrary.org/obo/NCBITaxon_311982 node CL_0000520 prokaryotic cell null http://purl.obolibrary.org/obo/CL_0000520 node EFO_0002762 ChIP-chip by tiling array null http://www.ebi.ac.uk/efo/EFO_0002762 node EFO_0006665 NCI-H1882 null http://www.ebi.ac.uk/efo/EFO_0006665 node Orphanet_3463 Wolfram syndrome null http://www.orpha.net/ORDO/Orphanet_3463 node EFO_0007507 thoracic outlet syndrome null http://www.ebi.ac.uk/efo/EFO_0007507 node CHEBI_68503 3-methyladipic acid null http://purl.obolibrary.org/obo/CHEBI_68503 node UBERON_0006334 posterior lateral line null http://purl.obolibrary.org/obo/UBERON_0006334 node MONDO_0002260 hidradenitis null http://purl.obolibrary.org/obo/MONDO_0002260 node Orphanet_99802 Hemimegalencephaly null http://www.orpha.net/ORDO/Orphanet_99802 node EFO_0008862 PIP-Seq null http://www.ebi.ac.uk/efo/EFO_0008862 node MONDO_0002083 Richter syndrome null http://purl.obolibrary.org/obo/MONDO_0002083 node MONDO_0002564 jejunal neoplasm null http://purl.obolibrary.org/obo/MONDO_0002564 node CHEBI_11851 3-methyl-2-oxobutanoate null http://purl.obolibrary.org/obo/CHEBI_11851 node Orphanet_96210 Rare genetic deafness null http://www.orpha.net/ORDO/Orphanet_96210 node EFO_0000677 mental or behavioural disorder null http://www.ebi.ac.uk/efo/EFO_0000677 node EFO_0001669 obsolete_influenza infection null http://www.ebi.ac.uk/efo/EFO_0001669 node Orphanet_264675 Congenital pulmonary alveolar proteinosis null http://www.orpha.net/ORDO/Orphanet_264675 node NCBITaxon_92181 Bartonella koehlerae null http://purl.obolibrary.org/obo/NCBITaxon_92181 node EFO_0008920 SeqZip null http://www.ebi.ac.uk/efo/EFO_0008920 node Orphanet_217382 Neurodegenerative syndrome due to cerebral folate transport deficiency null http://www.orpha.net/ORDO/Orphanet_217382 node Orphanet_79134 DEND syndrome null http://www.orpha.net/ORDO/Orphanet_79134 node EFO_0008286 sialic acid-binding Ig-like lectin 9 measurement null http://www.ebi.ac.uk/efo/EFO_0008286 node EFO_0009075 neuropathy, hereditary motor and sensory, type vib null http://www.ebi.ac.uk/efo/EFO_0009075 node UO_0000064 micromolar null http://purl.obolibrary.org/obo/UO_0000064 node CL_0001005 mature CD8_alpha-positive CD11b-negative dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000018)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001005 node CHEBI_28300 glutamine null http://purl.obolibrary.org/obo/CHEBI_28300 node MONDO_0002171 giant cell tumor editor note: consider separate term for neoplasm (C3055 in NCIT) http://purl.obolibrary.org/obo/MONDO_0002171 node NCBITaxon_34506 Strongyloides ratti null http://purl.obolibrary.org/obo/NCBITaxon_34506 node Orphanet_294990 Congenital absence/hypoplasia of fingers excluding thumb null http://www.orpha.net/ORDO/Orphanet_294990 node Orphanet_157850 Pantothenate kinase-associated neurodegeneration null http://www.orpha.net/ORDO/Orphanet_157850 node Orphanet_156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type null http://www.orpha.net/ORDO/Orphanet_156728 node EFO_1000650 estrogen-receptor negative breast cancer null http://www.ebi.ac.uk/efo/EFO_1000650 node MONDO_0024499 vascular bone neoplasm null http://purl.obolibrary.org/obo/MONDO_0024499 node CHEBI_132951 maleate null http://purl.obolibrary.org/obo/CHEBI_132951 node EFO_0000765 AIDS null http://www.ebi.ac.uk/efo/EFO_0000765 node EFO_0001757 dose response design null http://www.ebi.ac.uk/efo/EFO_0001757 node GO_0010226 response to lithium ion null http://purl.obolibrary.org/obo/GO_0010226 node Orphanet_238755 Autosomal dominant limb-girdle muscular dystrophy type 1H null http://www.orpha.net/ORDO/Orphanet_238755 node EFO_1001269 Arbovirus Infections null http://www.ebi.ac.uk/efo/EFO_1001269 node EFO_0002497 acute hypotension null http://www.ebi.ac.uk/efo/EFO_0002497 node EFO_0005699 desmoplastic medulloblastoma null http://www.ebi.ac.uk/efo/EFO_0005699 node GO_0030252 growth hormone secretion null http://purl.obolibrary.org/obo/GO_0030252 node Orphanet_238578 Familial clubfoot due to 17q23.1q23.2 microduplication null http://www.orpha.net/ORDO/Orphanet_238578 node MONDO_0002149 reproductive system cancer null http://purl.obolibrary.org/obo/MONDO_0002149 node Orphanet_91416 Isolated congenital alacrima null http://www.orpha.net/ORDO/Orphanet_91416 node EFO_0001407 obsolete_placenta null http://www.ebi.ac.uk/efo/EFO_0001407 node NCBITaxon_4530 Oryza sativa null http://purl.obolibrary.org/obo/NCBITaxon_4530 node Orphanet_93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis null http://www.orpha.net/ORDO/Orphanet_93213 node MONDO_0015757 lymphoid hemopathy null http://purl.obolibrary.org/obo/MONDO_0015757 node NCBITaxon_187623 Cryptopygus antarcticus null http://purl.obolibrary.org/obo/NCBITaxon_187623 node CHEBI_53115 8-(3-chlorostyryl) caffeine null http://purl.obolibrary.org/obo/CHEBI_53115 node Orphanet_156629 Genetic hypertension null http://www.orpha.net/ORDO/Orphanet_156629 node GO_0009615 response to virus null http://purl.obolibrary.org/obo/GO_0009615 node CHEBI_63928 menadione sodium sulfonate null http://purl.obolibrary.org/obo/CHEBI_63928 node Orphanet_2512 Autosomal recessive primary microcephaly null http://www.orpha.net/ORDO/Orphanet_2512 node EFO_0002585 Theiler stage 22 null http://www.ebi.ac.uk/efo/EFO_0002585 node HP_0004324 Increased body weight null http://purl.obolibrary.org/obo/HP_0004324 node Orphanet_137905 Syndromic optic nerve hypoplasia null http://www.orpha.net/ORDO/Orphanet_137905 node EFO_0010426 triacylglycerol 54:8 measurement null http://www.ebi.ac.uk/efo/EFO_0010426 node NCBITaxon_456999 Rhizoctonia solani null http://purl.obolibrary.org/obo/NCBITaxon_456999 node UBERON_0002188 respiratory bronchiole null http://purl.obolibrary.org/obo/UBERON_0002188 node Orphanet_93301 Brachyolmia type 1, Hobaek type null http://www.orpha.net/ORDO/Orphanet_93301 node HP_0000265 Mastoiditis null http://purl.obolibrary.org/obo/HP_0000265 node EFO_0000911 obsolete_diencephalon null http://www.ebi.ac.uk/efo/EFO_0000911 node MONDO_0002635 periodontal disease null http://purl.obolibrary.org/obo/MONDO_0002635 node EFO_0001903 nervous system developmental tissue null http://www.ebi.ac.uk/efo/EFO_0001903 node MONDO_0044326 developmental delay and seizures with or without movement abnormalities null http://purl.obolibrary.org/obo/MONDO_0044326 node Orphanet_93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Not in the OMIM series. http://www.orpha.net/ORDO/Orphanet_93114 node EFO_0005869 embryonic stage 9 Temporal ordering number - 280. http://www.ebi.ac.uk/efo/EFO_0005869 node Orphanet_300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation null http://www.orpha.net/ORDO/Orphanet_300570 node UBERON_0003932 cartilage element of chondrocranium null http://purl.obolibrary.org/obo/UBERON_0003932 node EFO_0004366 social desirability null http://www.ebi.ac.uk/efo/EFO_0004366 node EFO_0003439 obsolete_presumptive blood null http://www.ebi.ac.uk/efo/EFO_0003439 node Orphanet_228354 CLN8 disease null http://www.orpha.net/ORDO/Orphanet_228354 node EFO_0010033 RSMA null http://www.ebi.ac.uk/efo/EFO_0010033 node Orphanet_284786 Qualitative or quantitative defects of troponin null http://www.orpha.net/ORDO/Orphanet_284786 node EFO_0010514 organic anion measurement null http://www.ebi.ac.uk/efo/EFO_0010514 node EFO_0001102 CFT-2 null http://www.ebi.ac.uk/efo/EFO_0001102 node Orphanet_712 Hemolytic anemia due to glucophosphate isomerase deficiency null http://www.orpha.net/ORDO/Orphanet_712 node Orphanet_223713 Mitochondrial oxidative phosphorylation disorder null http://www.orpha.net/ORDO/Orphanet_223713 node PO_0007031 mid whole plant fruit ripening stage null http://purl.obolibrary.org/obo/PO_0007031 node GO_0035814 negative regulation of renal sodium excretion The amount of sodium excreted in urine over a unit of time can be decreased by decreasing the volume of urine produced (antidiuresis) and/or by decreasing the concentration of sodium in the urine. http://purl.obolibrary.org/obo/GO_0035814 node Orphanet_1420 Lethal chondrodysplasia, Moerman type null http://www.orpha.net/ORDO/Orphanet_1420 node EFO_0004702 obsolete_response to iloperidone Awaiting a GO import http://www.ebi.ac.uk/efo/EFO_0004702 node EFO_1000119 Benign Salivary Gland Myoepithelioma null http://www.ebi.ac.uk/efo/EFO_1000119 node CHEBI_17445 3-hydroxyphenylacetic acid null http://purl.obolibrary.org/obo/CHEBI_17445 node EFO_0005580 red color blindness null http://www.ebi.ac.uk/efo/EFO_0005580 node EFO_0004631 vitamin D measurement is about MSH:D014807 http://www.ebi.ac.uk/efo/EFO_0004631 node CLO_0032713 GM13649 null http://purl.obolibrary.org/obo/CLO_0032713 node EFO_0004454 obsolete_Arabidopsis Growth Stage 9.70 null http://www.ebi.ac.uk/efo/EFO_0004454 node EFO_0003527 obsolete_pterosphenoid null http://www.ebi.ac.uk/efo/EFO_0003527 node EFO_0005393 LAPC-9 null http://www.ebi.ac.uk/efo/EFO_0005393 node EFO_0002041 B117P null http://www.ebi.ac.uk/efo/EFO_0002041 node Orphanet_295036 Congenital patella dislocation null http://www.orpha.net/ORDO/Orphanet_295036 node Orphanet_183515 Rare genetic medullar disease null http://www.orpha.net/ORDO/Orphanet_183515 node MONDO_0019844 pituitary hormone deficiency secondary to storage disease Editor note: see https://github.com/monarch-initiative/mondo-build/pull/120 http://purl.obolibrary.org/obo/MONDO_0019844 node GO_0030075 bacterial thylakoid null http://purl.obolibrary.org/obo/GO_0030075 node EFO_0006596 HuP-T3 null http://www.ebi.ac.uk/efo/EFO_0006596 node CHEBI_38462 acetylcholinesterase inhibitor null http://purl.obolibrary.org/obo/CHEBI_38462 node Orphanet_2946 Brachydactyly - long thumb null http://www.orpha.net/ORDO/Orphanet_2946 node EFO_1001327 Flavobacteriaceae Infections null http://www.ebi.ac.uk/efo/EFO_1001327 node CHEBI_8212 pimozide null http://purl.obolibrary.org/obo/CHEBI_8212 node EFO_0005481 Patski null http://www.ebi.ac.uk/efo/EFO_0005481 node UBERON_0002412 vertebra null http://purl.obolibrary.org/obo/UBERON_0002412 node EFO_0006684 NCI-H2722 null http://www.ebi.ac.uk/efo/EFO_0006684 node MONDO_0000386 digestive system neuroendocrine tumor, grade 1/2 null http://purl.obolibrary.org/obo/MONDO_0000386 node Orphanet_98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly null http://www.orpha.net/ORDO/Orphanet_98364 node EFO_0006521 calcium intake measurement null http://www.ebi.ac.uk/efo/EFO_0006521 node CHEBI_9678 tribenuron methyl null http://purl.obolibrary.org/obo/CHEBI_9678 node EFO_1001415 Retropharyngeal Abscess null http://www.ebi.ac.uk/efo/EFO_1001415 node MONDO_0018379 primary avascular necrosis null http://purl.obolibrary.org/obo/MONDO_0018379 node EFO_0000044 CS57628 null http://www.ebi.ac.uk/efo/EFO_0000044 node EFO_0004918 age at diagnosis null http://www.ebi.ac.uk/efo/EFO_0004918 node CL_0002415 immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte null http://purl.obolibrary.org/obo/CL_0002415 node EFO_0006742 RC-K8 null http://www.ebi.ac.uk/efo/EFO_0006742 node CHEBI_68561 N-acetyltyrosine null http://purl.obolibrary.org/obo/CHEBI_68561 node Orphanet_309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation null http://www.orpha.net/ORDO/Orphanet_309515 node GO_1904014 response to serotonin null http://purl.obolibrary.org/obo/GO_1904014 node Orphanet_2917 Polydactyly-myopia syndrome null http://www.orpha.net/ORDO/Orphanet_2917 node EFO_1001503 type II diabetes mellitus with acanthosis nigricans null http://www.ebi.ac.uk/efo/EFO_1001503 node EFO_0007371 Miller Fisher syndrome null http://www.ebi.ac.uk/efo/EFO_0007371 node Orphanet_98673 Autosomal dominant optic atrophy, classic type null http://www.orpha.net/ORDO/Orphanet_98673 node Orphanet_3172 Eyebrow duplication - syndactyly null http://www.orpha.net/ORDO/Orphanet_3172 node MONDO_0007572 primary familial polycythemia due to EPO receptor mutation Editor note: check relation to familial polycythemia http://purl.obolibrary.org/obo/MONDO_0007572 node Orphanet_90342 Xeroderma pigmentosum variant null http://www.orpha.net/ORDO/Orphanet_90342 node EFO_0008648 5PSeq null http://www.ebi.ac.uk/efo/EFO_0008648 node HP_0002205 Recurrent respiratory infections null http://purl.obolibrary.org/obo/HP_0002205 node MONDO_0032591 hyperparathyroidism, transient neonatal null http://purl.obolibrary.org/obo/MONDO_0032591 node EFO_0006830 insulin metabolic clearance rate measurement null http://www.ebi.ac.uk/efo/EFO_0006830 node MONDO_0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome null http://purl.obolibrary.org/obo/MONDO_0014689 node MONDO_0003277 malignant ear neoplasm null http://purl.obolibrary.org/obo/MONDO_0003277 node MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 null http://purl.obolibrary.org/obo/MONDO_0009335 node Orphanet_794 Saethre-Chotzen syndrome null http://www.orpha.net/ORDO/Orphanet_794 node EFO_0007898 alpha-tocopherol measurement null http://www.ebi.ac.uk/efo/EFO_0007898 node Orphanet_329224 Intellectual disability - craniofacial dysmorphism - cryptorchidism null http://www.orpha.net/ORDO/Orphanet_329224 node Orphanet_3055 X-linked intellectual disability - short stature - obesity null http://www.orpha.net/ORDO/Orphanet_3055 node Orphanet_98761 Spinocerebellar ataxia type 10 null http://www.orpha.net/ORDO/Orphanet_98761 node HP_0003073 Hypoalbuminemia null http://purl.obolibrary.org/obo/HP_0003073 node Orphanet_139573 Hereditary sensory and autonomic neuropathy with deafness and global delay null http://www.orpha.net/ORDO/Orphanet_139573 node NCBITaxon_2879 Ectocarpus null http://purl.obolibrary.org/obo/NCBITaxon_2879 node EFO_0008939 snmC-seq null http://www.ebi.ac.uk/efo/EFO_0008939 node EFO_0002623 septic peritonitis null http://www.ebi.ac.uk/efo/EFO_0002623 node EFO_0007680 gait measurement null http://www.ebi.ac.uk/efo/EFO_0007680 node NCIT_C76714 Gentisic Acid null http://purl.obolibrary.org/obo/NCIT_C76714 node Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type null http://www.orpha.net/ORDO/Orphanet_93271 node MONDO_0001384 myopia (disease) null http://purl.obolibrary.org/obo/MONDO_0001384 node Orphanet_211 Familial cylindromatosis null http://www.orpha.net/ORDO/Orphanet_211 node HP_0002716 Lymphadenopathy null http://purl.obolibrary.org/obo/HP_0002716 node HP_0000303 Mandibular prognathia null http://purl.obolibrary.org/obo/HP_0000303 node UBERON_0000376 hindlimb stylopod null http://purl.obolibrary.org/obo/UBERON_0000376 node CHEBI_76283 sebacate(2-) null http://purl.obolibrary.org/obo/CHEBI_76283 node EFO_1000669 allergic urticaria null http://www.ebi.ac.uk/efo/EFO_1000669 node EFO_0009240 Metarubricyte Count null http://www.ebi.ac.uk/efo/EFO_0009240 node EFO_1000188 Colon Neuroendocrine Tumor G1 null http://www.ebi.ac.uk/efo/EFO_1000188 node MONDO_0008057 Carney complex, type 1 null http://purl.obolibrary.org/obo/MONDO_0008057 node EFO_0009109 magnetic affinity cell sorting null http://www.ebi.ac.uk/efo/EFO_0009109 node CHEBI_64078 (1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride null http://purl.obolibrary.org/obo/CHEBI_64078 node NCBITaxon_80956 Pomacentrus moluccensis null http://purl.obolibrary.org/obo/NCBITaxon_80956 node EFO_0007315 hordeolum null http://www.ebi.ac.uk/efo/EFO_0007315 node EFO_0008138 GDNF family receptor alpha-2 measurement null http://www.ebi.ac.uk/efo/EFO_0008138 node EFO_0002188 HCT15 null http://www.ebi.ac.uk/efo/EFO_0002188 node Orphanet_231662 Isolated growth hormone deficiency type IA null http://www.orpha.net/ORDO/Orphanet_231662 node NCBITaxon_202907 Collimonas null http://purl.obolibrary.org/obo/NCBITaxon_202907 node Orphanet_324422 ALG13-CDG null http://www.orpha.net/ORDO/Orphanet_324422 node Orphanet_432 Normosmic congenital hypogonadotropic hypogonadism null http://www.orpha.net/ORDO/Orphanet_432 node Orphanet_166090 Von Willebrand disease type 2M Editor note: 2 sctitds refer to same disease http://www.orpha.net/ORDO/Orphanet_166090 node EFO_1000592 Thyroid Gland Oncocytic Follicular Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000592 node CHEBI_17376 cystine null http://purl.obolibrary.org/obo/CHEBI_17376 node EFO_0002711 F13 Normal pancreatic cell line http://www.ebi.ac.uk/efo/EFO_0002711 node EFO_0009944 Antiglaucoma preparations and miotics use measurement null http://www.ebi.ac.uk/efo/EFO_0009944 node Orphanet_139474 17q11.2 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_139474 node EFO_0008359 eicosadienoic acid measurement null http://www.ebi.ac.uk/efo/EFO_0008359 node EFO_0003451 obsolete_presumptive rhombomere 3 null http://www.ebi.ac.uk/efo/EFO_0003451 node EFO_1000276 Gastric Papillary Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000276 node Orphanet_276241 Machado-Joseph disease type 2 null http://www.orpha.net/ORDO/Orphanet_276241 node EFO_0003779 Hashimoto's thyroiditis An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism. http://www.ebi.ac.uk/efo/EFO_0003779 node EFO_0007403 ophthalmic herpes zoster null http://www.ebi.ac.uk/efo/EFO_0007403 node CHEBI_3182 bromocriptine methanesulfonate null http://purl.obolibrary.org/obo/CHEBI_3182 node EFO_1000089 Appendix Adenoma null http://www.ebi.ac.uk/efo/EFO_1000089 node EFO_0001349 Dahl salt-resistant null http://www.ebi.ac.uk/efo/EFO_0001349 node EFO_0002276 NCI-H2081 null http://www.ebi.ac.uk/efo/EFO_0002276 node NCBITaxon_311424 Dehalococcoides sp. VS null http://purl.obolibrary.org/obo/NCBITaxon_311424 node HP_0003547 Shoulder girdle muscle weakness null http://purl.obolibrary.org/obo/HP_0003547 node Orphanet_397615 Obesity due to CEP19 deficiency null http://www.orpha.net/ORDO/Orphanet_397615 node MONDO_0032485 intellectual developmental disorder 61 null http://purl.obolibrary.org/obo/MONDO_0032485 node EFO_1000978 hypervitaminosis A null http://www.ebi.ac.uk/efo/EFO_1000978 node MONDO_0002326 alcohol-induced mental disorder null http://purl.obolibrary.org/obo/MONDO_0002326 node EFO_0008447 neutrophil-to-lymphocyte ratio null http://www.ebi.ac.uk/efo/EFO_0008447 node Orphanet_231386 Beta-thalassemia with other manifestations null http://www.orpha.net/ORDO/Orphanet_231386 node EFO_0000449 embryonic corpus cardiacum null http://www.ebi.ac.uk/efo/EFO_0000449 node CHEBI_31882 N-methyl-D-aspartic acid null http://purl.obolibrary.org/obo/CHEBI_31882 node EFO_0002839 MSTO-211H null http://www.ebi.ac.uk/efo/EFO_0002839 node CHEBI_16680 S-adenosyl-L-homocysteine null http://purl.obolibrary.org/obo/CHEBI_16680 node MONDO_0002120 neuroendocrine carcinoma null http://purl.obolibrary.org/obo/MONDO_0002120 node Orphanet_75857 6q terminal deletion syndrome null http://www.orpha.net/ORDO/Orphanet_75857 node Orphanet_313936 PENS syndrome null http://www.orpha.net/ORDO/Orphanet_313936 node Orphanet_403 Familial hyperaldosteronism type I null http://www.orpha.net/ORDO/Orphanet_403 node EFO_0003140 LC2/AD null http://www.ebi.ac.uk/efo/EFO_0003140 node HP_0004419 Recurrent thrombophlebitis null http://purl.obolibrary.org/obo/HP_0004419 node Orphanet_2062 Progressive non-infectious anterior vertebral fusion null http://www.orpha.net/ORDO/Orphanet_2062 node EFO_1001983 Autosomal recessive Charcot Marie Tooth disease type 2X null http://www.ebi.ac.uk/efo/EFO_1001983 node MONDO_0017386 pleomorphic rhabdomyosarcoma null http://purl.obolibrary.org/obo/MONDO_0017386 node Orphanet_284411 Glycerol kinase deficiency, juvenile form null http://www.orpha.net/ORDO/Orphanet_284411 node MONDO_0021289 carcinoma in situ of cecum null http://purl.obolibrary.org/obo/MONDO_0021289 node EFO_0005648 1182-4H null http://www.ebi.ac.uk/efo/EFO_0005648 node UBERON_0011683 adductor mandibulae null http://purl.obolibrary.org/obo/UBERON_0011683 node EFO_0002927 International Unit null http://www.ebi.ac.uk/efo/EFO_0002927 node Orphanet_105 Atresia of urethra null http://www.orpha.net/ORDO/Orphanet_105 node CHEBI_320061 methyl alpha-D-glucopyranoside null http://purl.obolibrary.org/obo/CHEBI_320061 node Orphanet_168486 Congenital neuronal ceroid lipofuscinosis null http://www.orpha.net/ORDO/Orphanet_168486 node Orphanet_166073 Pontocerebellar hypoplasia type 6 null http://www.orpha.net/ORDO/Orphanet_166073 node Orphanet_1837 Ulna metaphyseal dysplasia syndrome null http://www.orpha.net/ORDO/Orphanet_1837 node MONDO_0004379 female breast carcinoma null http://purl.obolibrary.org/obo/MONDO_0004379 node EFO_0004024 translocation null http://www.ebi.ac.uk/efo/EFO_0004024 node CHEBI_3165 bradykinin null http://purl.obolibrary.org/obo/CHEBI_3165 node EFO_0002534 fetal blood cell null http://www.ebi.ac.uk/efo/EFO_0002534 node CL_0000939 CD16-positive, CD56-dim natural killer cell, human This cell type is compatible with the HIPC Lyoplate markers for 'CD16+CD56+ NK cell'. Markers are associated with human cell types. http://purl.obolibrary.org/obo/CL_0000939 node CLO_0031533 GM14481 null http://purl.obolibrary.org/obo/CLO_0031533 node EFO_1002046 apocrine sweat gland disease null http://www.ebi.ac.uk/efo/EFO_1002046 node PATO_0001564 extra or missing processual parts null http://purl.obolibrary.org/obo/PATO_0001564 node EFO_0005172 Bl-0 null http://www.ebi.ac.uk/efo/EFO_0005172 node EFO_0002347 SNU398 null http://www.ebi.ac.uk/efo/EFO_0002347 node Orphanet_83472 CAMOS syndrome null http://www.orpha.net/ORDO/Orphanet_83472 node MONDO_0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities null http://purl.obolibrary.org/obo/MONDO_0032897 node NCBITaxon_145942 Ophrys fusca null http://purl.obolibrary.org/obo/NCBITaxon_145942 node NCBITaxon_34063 Actinobacillus pleuropneumoniae serovar 2 null http://purl.obolibrary.org/obo/NCBITaxon_34063 node EFO_0000602 BALB/c Description from https://www.jax.org/strain/000651: BALB/c mice are particularly well known for the production of plasmacytomas following injection with mineral oil forming the basis for the production of monoclonal antibodies. Although not all BALB/c substrains have been examined for plasmacytoma induction, substrains derived from the Andervont (An) lineage (which includes BALB/cByJ) typically are susceptible, while those descended from BALB/cJ are resistant (see: Potter M, 1985). Mammary tumor incidence is normally low but infection with mammary tumor virus by fostering to MMTV+ C3H mice dramatically increases tumor number and age of onset. BALB/c mice develop other cancers later in life including reticular neoplasms, primary lung tumors, and renal tumors. Rare spontaneous myoepitheliomas arising from myoepithelial cells of various exocrine glands have been observed in both BALB/cJ and BALB/cByJ substrains. White et al. reported a variation in thioglycolate medium-induced peritoneal leukocyte recruitment in 4 analyzed strains. The response of total leukocyte recruitment, from greatest to least, was C57BL/6J>BALB/c>CD1>129X1/SvJ. Variations were also found in the timeline of response and cell types most impacted. BALB/c mice immunized with PLP180-199 develop an atypical form of experimental autoimmune encephalomyelitis (EAE) in which susceptibility is determined by location. In the spinal cord 60-70% mice develop pathological lesions and in the brain and cerebellum 100% of mice develop sever lesions. Dorso-ventral vaginal septa is observed in some BALB/cJ females, and may contribute to non-productive females in this strain. (Cunliffe-Beamer T, Lab Anim Sci, 1976) http://www.ebi.ac.uk/efo/EFO_0000602 node EFO_0004315 drinking behavior null http://www.ebi.ac.uk/efo/EFO_0004315 node Orphanet_261947 Partial deletion of the short arm of chromosome 11 null http://www.orpha.net/ORDO/Orphanet_261947 node NCBITaxon_153609 Moniliophthora perniciosa null http://purl.obolibrary.org/obo/NCBITaxon_153609 node HP_0008386 Aplasia/Hypoplasia of the nails null http://purl.obolibrary.org/obo/HP_0008386 node EFO_0004128 hereditary nephritis null http://www.ebi.ac.uk/efo/EFO_0004128 node CL_0002106 IgD-positive CD38-positive IgG memory B cell null http://purl.obolibrary.org/obo/CL_0002106 node Orphanet_260305 Autosomal recessive sideroblastic anemia null http://www.orpha.net/ORDO/Orphanet_260305 node MONDO_0018731 lethal multiple congenital anomalies/dysmorphic syndrome null http://purl.obolibrary.org/obo/MONDO_0018731 node CHEBI_41500 4-phenylbutyric acid null http://purl.obolibrary.org/obo/CHEBI_41500 node GO_0006306 DNA methylation null http://purl.obolibrary.org/obo/GO_0006306 node EFO_0008912 scRC-Seq null http://www.ebi.ac.uk/efo/EFO_0008912 node MONDO_0001187 urinary bladder cancer null http://purl.obolibrary.org/obo/MONDO_0001187 node Orphanet_363300 Genetic intractable diarrhea of infancy null http://www.orpha.net/ORDO/Orphanet_363300 node EFO_0002858 SK-ES-1 null http://www.ebi.ac.uk/efo/EFO_0002858 node EFO_0007808 response to bortezomib null http://www.ebi.ac.uk/efo/EFO_0007808 node EFO_0005320 contact dermatitis due to nickel null http://www.ebi.ac.uk/efo/EFO_0005320 node MONDO_0008570 thyrotoxic periodic paralysis, susceptibility to, 1 null http://purl.obolibrary.org/obo/MONDO_0008570 node EFO_0004216 conduct disorder null http://www.ebi.ac.uk/efo/EFO_0004216 node MONDO_0023644 lip and oral cavity carcinoma null http://purl.obolibrary.org/obo/MONDO_0023644 node EFO_0007062 tumor mass null http://www.ebi.ac.uk/efo/EFO_0007062 node CHEBI_22720 benzodiazepine null http://purl.obolibrary.org/obo/CHEBI_22720 node Orphanet_99796 Subcortical band heterotopia Editor note: check this hierarchy http://www.orpha.net/ORDO/Orphanet_99796 node NCBITaxon_7173 Anopheles arabiensis null http://purl.obolibrary.org/obo/NCBITaxon_7173 node Orphanet_98869 Congenital dyserythropoietic anemia type I null http://www.orpha.net/ORDO/Orphanet_98869 node EFO_0006368 CL-11 null http://www.ebi.ac.uk/efo/EFO_0006368 node Orphanet_2290 Microvillus inclusion disease null http://www.orpha.net/ORDO/Orphanet_2290 node CHEBI_82911 thymol sulfate null http://purl.obolibrary.org/obo/CHEBI_82911 node EFO_0001460 uninfected null http://www.ebi.ac.uk/efo/EFO_0001460 node EFO_0009762 healthspan null http://www.ebi.ac.uk/efo/EFO_0009762 node EFO_0008813 Mint-ChIP null http://www.ebi.ac.uk/efo/EFO_0008813 node EFO_0001273 blastula 128-cell null http://www.ebi.ac.uk/efo/EFO_0001273 node HP_0006855 Cerebellar vermis atrophy This sign can be visualized with brain MRI. http://purl.obolibrary.org/obo/HP_0006855 node MONDO_0000721 xanthinuria null http://purl.obolibrary.org/obo/MONDO_0000721 node EFO_0007150 Arenaviridae infectious disease null http://www.ebi.ac.uk/efo/EFO_0007150 node Orphanet_99955 Charcot-Marie-Tooth disease type 4B1 null http://www.orpha.net/ORDO/Orphanet_99955 node Orphanet_2473 McKusick-Kaufman syndrome null http://www.orpha.net/ORDO/Orphanet_2473 node Orphanet_98313 Male infertility due to gonadal dysgenesis null http://www.orpha.net/ORDO/Orphanet_98313 node Orphanet_157946 Huntington disease-like 3 null http://www.orpha.net/ORDO/Orphanet_157946 node EFO_0009189 Hyperthyroidism null http://www.ebi.ac.uk/efo/EFO_0009189 node UO_0000178 unit per milliliter null http://purl.obolibrary.org/obo/UO_0000178 node EFO_1000951 glossitis null http://www.ebi.ac.uk/efo/EFO_1000951 node CLO_0022604 AG11513 null http://purl.obolibrary.org/obo/CLO_0022604 node Orphanet_79474 Atypical Werner syndrome null http://www.orpha.net/ORDO/Orphanet_79474 node Orphanet_140969 Saldino-Mainzer syndrome null http://www.orpha.net/ORDO/Orphanet_140969 node UBERON_0001831 parotid gland The mouse parotid, exorbital lacrimal gland and exocrine pancreas have similar histological appearances[ISBN:0123813611] http://purl.obolibrary.org/obo/UBERON_0001831 node EFO_0009850 masculinization of female, CTCAE null http://www.ebi.ac.uk/efo/EFO_0009850 node EFO_0006269 ACH-3P null http://www.ebi.ac.uk/efo/EFO_0006269 node MONDO_0002122 neuritis null http://purl.obolibrary.org/obo/MONDO_0002122 node CHEBI_33709 amino acid null http://purl.obolibrary.org/obo/CHEBI_33709 node EFO_0001361 pulmonary arterial hypertension null http://www.ebi.ac.uk/efo/EFO_0001361 node NCBITaxon_152480 Burkholderia ambifaria null http://purl.obolibrary.org/obo/NCBITaxon_152480 node Orphanet_331235 Selective IgM deficiency null http://www.orpha.net/ORDO/Orphanet_331235 node CHEBI_2981 baicalin null http://purl.obolibrary.org/obo/CHEBI_2981 node EFO_1001805 lobomycosis null http://www.ebi.ac.uk/efo/EFO_1001805 node Orphanet_293603 Congenital hereditary endothelial dystrophy type II null http://www.orpha.net/ORDO/Orphanet_293603 node EFO_1000834 basophil adenoma null http://www.ebi.ac.uk/efo/EFO_1000834 node EFO_0003856 dissection null http://www.ebi.ac.uk/efo/EFO_0003856 node CL_0000992 immature CD11c-low plasmacytoid dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000006)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0000992 node UO_0000103 picoliter null http://purl.obolibrary.org/obo/UO_0000103 node CHEBI_132948 pyridoxate null http://purl.obolibrary.org/obo/CHEBI_132948 node EFO_0004574 total cholesterol measurement null http://www.ebi.ac.uk/efo/EFO_0004574 node Orphanet_363294 Genetic syndromic Pierre Robin syndrome null http://www.orpha.net/ORDO/Orphanet_363294 node Orphanet_98622 Syndromic hyperopia null http://www.orpha.net/ORDO/Orphanet_98622 node CLO_0014887 GM17109 null http://purl.obolibrary.org/obo/CLO_0014887 node Orphanet_91498 Familial congenital palsy of trochlear nerve null http://www.orpha.net/ORDO/Orphanet_91498 node EFO_0004795 skin sensitivity to sun Editor note: TODO https://github.com/EnvironmentOntology/envo/issues/587 http://www.ebi.ac.uk/efo/EFO_0004795 node EFO_0010462 aspartate measurement null http://www.ebi.ac.uk/efo/EFO_0010462 node HP_0006610 Wide intermamillary distance null http://purl.obolibrary.org/obo/HP_0006610 node EFO_0003944 tibia fracture null http://www.ebi.ac.uk/efo/EFO_0003944 node EFO_0003077 trabecular meshwork null http://www.ebi.ac.uk/efo/EFO_0003077 node Orphanet_98710 Metabolic disease associated with ocular features null http://www.orpha.net/ORDO/Orphanet_98710 node Orphanet_307837 Focal palmoplantar keratoderma null http://www.orpha.net/ORDO/Orphanet_307837 node EFO_1001380 Niemann-Pick disease null http://www.ebi.ac.uk/efo/EFO_1001380 node EFO_1000453 Paraganglioma null http://www.ebi.ac.uk/efo/EFO_1000453 node EFO_0001096 BT549 null http://www.ebi.ac.uk/efo/EFO_0001096 node Orphanet_1516 Craniofacial dyssynostosis null http://www.orpha.net/ORDO/Orphanet_1516 node EFO_0004883 obsolete_Blepharophimosis-Ptosis-Epicanthus inversus syndrome null http://www.ebi.ac.uk/efo/EFO_0004883 node EFO_0010550 sci-RNA-seq null http://www.ebi.ac.uk/efo/EFO_0010550 node EFO_0005725 BE(2)-C null http://www.ebi.ac.uk/efo/EFO_0005725 node EFO_1001193 subacute bacterial endocarditis null http://www.ebi.ac.uk/efo/EFO_1001193 node UBERON_0002227 spiral organ of cochlea null http://purl.obolibrary.org/obo/UBERON_0002227 node Orphanet_363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy null http://www.orpha.net/ORDO/Orphanet_363447 node Orphanet_261920 Partial deletion of the short arm of chromosome 8 null http://www.orpha.net/ORDO/Orphanet_261920 node EFO_0002137 COLO320HSR null http://www.ebi.ac.uk/efo/EFO_0002137 node HP_0011611 Interrupted aortic arch null http://purl.obolibrary.org/obo/HP_0011611 node EFO_1001281 Buruli Ulcer null http://www.ebi.ac.uk/efo/EFO_1001281 node EFO_0006734 PK-45H null http://www.ebi.ac.uk/efo/EFO_0006734 node MONDO_0007289 cataract 13 with adult I phenotype Not in the OMIM series. http://purl.obolibrary.org/obo/MONDO_0007289 node HP_0007957 Corneal opacity null http://purl.obolibrary.org/obo/HP_0007957 node EFO_0003142 Lu130 null http://www.ebi.ac.uk/efo/EFO_0003142 node EFO_0010678 eye discharge null http://www.ebi.ac.uk/efo/EFO_0010678 node EFO_0002038 66cl4 null http://www.ebi.ac.uk/efo/EFO_0002038 node NCBITaxon_2336 Thermotoga maritima null http://purl.obolibrary.org/obo/NCBITaxon_2336 node Orphanet_295232 Congenital genu flexum null http://www.orpha.net/ORDO/Orphanet_295232 node CHEBI_138331 cholesteryl icosatrienoate null http://purl.obolibrary.org/obo/CHEBI_138331 node HP_0005181 Premature coronary artery atherosclerosis null http://purl.obolibrary.org/obo/HP_0005181 node EFO_0006822 trans-16:1n-7 fatty acid measurement null http://www.ebi.ac.uk/efo/EFO_0006822 node EFO_0010285 integumentary system disease null http://www.ebi.ac.uk/efo/EFO_0010285 node MONDO_0007962 Megalodactyly null http://purl.obolibrary.org/obo/MONDO_0007962 node EFO_0007584 blood zinc measurement null http://www.ebi.ac.uk/efo/EFO_0007584 node EFO_0006635 LCLC-97TM1 null http://www.ebi.ac.uk/efo/EFO_0006635 node EFO_0010766 CCL20 measurement null http://www.ebi.ac.uk/efo/EFO_0010766 node FBbt_00000210 anterior endoderm anlage null http://purl.obolibrary.org/obo/FBbt_00000210 node EFO_0006458 OV56 null http://www.ebi.ac.uk/efo/EFO_0006458 node HP_0009124 Abnormal adipose tissue morphology null http://purl.obolibrary.org/obo/HP_0009124 node EFO_0000158 CS57886 null http://www.ebi.ac.uk/efo/EFO_0000158 node Orphanet_98881 Familial dysfibrinogenemia null http://www.orpha.net/ORDO/Orphanet_98881 node EFO_0010579 proteome null http://www.ebi.ac.uk/efo/EFO_0010579 node EFO_0005269 congenital heart malformation null http://www.ebi.ac.uk/efo/EFO_0005269 node MONDO_0032899 neutropenia, severe congenital, 8, autosomal dominant null http://purl.obolibrary.org/obo/MONDO_0032899 node Orphanet_79242 Holocarboxylase synthetase deficiency May occur as a secondary consequence of impaired biotinidase activity doi:10.1074/jbc.M806985200 http://www.orpha.net/ORDO/Orphanet_79242 node EFO_0010373 phosphatidylcholine 32:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010373 node Orphanet_2128 Hemihypertrophy null http://www.orpha.net/ORDO/Orphanet_2128 node EFO_0007672 crus helix expression null http://www.ebi.ac.uk/efo/EFO_0007672 node Orphanet_95161 Chronic hepatic porphyria null http://www.orpha.net/ORDO/Orphanet_95161 node Orphanet_77296 Morgagni-Stewart-Morel syndrome null http://www.orpha.net/ORDO/Orphanet_77296 node Orphanet_3268 Synostosis - microcephaly - scoliosis null http://www.orpha.net/ORDO/Orphanet_3268 node MONDO_0060712 developmental delay, intellectual disability, obesity, and dysmorphic features null http://purl.obolibrary.org/obo/MONDO_0060712 node EFO_0004080 DR20 null http://www.ebi.ac.uk/efo/EFO_0004080 node EFO_0006926 acquired aplastic anemia null http://www.ebi.ac.uk/efo/EFO_0006926 node UO_0000221 dalton null http://purl.obolibrary.org/obo/UO_0000221 node MONDO_0002629 bone osteosarcoma null http://purl.obolibrary.org/obo/MONDO_0002629 node EFO_0007871 response to escitalopram null http://www.ebi.ac.uk/efo/EFO_0007871 node Orphanet_317428 Combined immunodeficiency due to ORAI1 deficiency null http://www.orpha.net/ORDO/Orphanet_317428 node NCBITaxon_197 Campylobacter jejuni null http://purl.obolibrary.org/obo/NCBITaxon_197 node NCBITaxon_8296 Ambystoma mexicanum null http://purl.obolibrary.org/obo/NCBITaxon_8296 node MONDO_0001597 submandibular gland disease null http://purl.obolibrary.org/obo/MONDO_0001597 node MONDO_0014732 hypomyelinating leukodystrophy 12 null http://purl.obolibrary.org/obo/MONDO_0014732 node EO_0007189 chemical treatment null http://purl.obolibrary.org/obo/EO_0007189 node EFO_0009453 hemiplegia null http://www.ebi.ac.uk/efo/EFO_0009453 node EFO_0008504 hepatitis C virus induced hepatocellular carcinoma null http://www.ebi.ac.uk/efo/EFO_0008504 node Orphanet_79330 GCS1-CDG null http://www.orpha.net/ORDO/Orphanet_79330 node MONDO_0000032 febrile seizures, familial null http://purl.obolibrary.org/obo/MONDO_0000032 node CLO_0014028 GM17179 null http://purl.obolibrary.org/obo/CLO_0014028 node Orphanet_65683 Isolated focal cortical dysplasia null http://www.orpha.net/ORDO/Orphanet_65683 node Orphanet_93297 Hypochondrogenesis null http://www.orpha.net/ORDO/Orphanet_93297 node MONDO_0019470 aggressive NK-cell leukemia null http://purl.obolibrary.org/obo/MONDO_0019470 node NCBITaxon_240495 Pseudonocardia dioxanivorans null http://purl.obolibrary.org/obo/NCBITaxon_240495 node CL_0001014 CD1a-positive Langerhans cell These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000026)(PMID:19243617). These cells are also CD281-positive (TLR1), CD282-positive (TLR2), CD284-positive (TLR4), CD286-positive (TLR6), CD287-positive (TLR7), and CD290-positive (TLR10). When activated, these cells are capable of producing IL-6, IL-8, and IL-15. http://purl.obolibrary.org/obo/CL_0001014 node Orphanet_3169 Sirenomelia null http://www.orpha.net/ORDO/Orphanet_3169 node Orphanet_90339 Rosselli-Gulienetti syndrome https://github.com/monarch-initiative/mondo/issues/432 http://www.orpha.net/ORDO/Orphanet_90339 node NCBITaxon_195102 Clostridium perfringens str. 13 null http://purl.obolibrary.org/obo/NCBITaxon_195102 node EFO_1000161 Cervical Adenoid Cystic Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000161 node CHEBI_28260 galactose null http://purl.obolibrary.org/obo/CHEBI_28260 node EFO_1000642 hemochromatosis null http://www.ebi.ac.uk/efo/EFO_1000642 node EFO_0001766 obsolete_ex vivo design null http://www.ebi.ac.uk/efo/EFO_0001766 node EFO_0009541 disease of peritoneum null http://www.ebi.ac.uk/efo/EFO_0009541 node Orphanet_96103 Distal trisomy 11q null http://www.orpha.net/ORDO/Orphanet_96103 node MONDO_0013586 Chitotriosidase deficiency null http://purl.obolibrary.org/obo/MONDO_0013586 node MONDO_0011431 MASS syndrome null http://purl.obolibrary.org/obo/MONDO_0011431 node EFO_0009354 Anti-influenza A virus IgG measurement null http://www.ebi.ac.uk/efo/EFO_0009354 node EFO_0009764 eye colour measurement null http://www.ebi.ac.uk/efo/EFO_0009764 node MONDO_0024275 amebic dysentery null http://purl.obolibrary.org/obo/MONDO_0024275 node MONDO_0020648 rubella encephalitis null http://purl.obolibrary.org/obo/MONDO_0020648 node EFO_1000730 Ludwig's angina null http://www.ebi.ac.uk/efo/EFO_1000730 node MONDO_0030035 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome null http://purl.obolibrary.org/obo/MONDO_0030035 node EFO_0003752 DNase-hypersensitivity seq null http://www.ebi.ac.uk/efo/EFO_0003752 node UBERON_0001153 caecum Taxon notes: in some herbivorous lizards, a cecum is present between small and large intestines[Kardong] http://purl.obolibrary.org/obo/UBERON_0001153 node Orphanet_364 Glycogen storage disease due to glucose-6-phosphatase deficiency null http://www.orpha.net/ORDO/Orphanet_364 node CLO_0014964 GM17110 null http://purl.obolibrary.org/obo/CLO_0014964 node EFO_1000543 Spinal Chordoma null http://www.ebi.ac.uk/efo/EFO_1000543 node CL_0002041 immature NK T cell stage III null http://purl.obolibrary.org/obo/CL_0002041 node EFO_0001006 obsolete_thallus null http://www.ebi.ac.uk/efo/EFO_0001006 node EFO_0009852 exhaustion null http://www.ebi.ac.uk/efo/EFO_0009852 node MONDO_0044979 disease by cell type null http://purl.obolibrary.org/obo/MONDO_0044979 node Orphanet_429 Hypochondroplasia null http://www.orpha.net/ORDO/Orphanet_429 node Orphanet_294965 Lethal congenital contracture syndrome null http://www.orpha.net/ORDO/Orphanet_294965 node EFO_1000132 Bone Epithelioid Hemangioma null http://www.ebi.ac.uk/efo/EFO_1000132 node EFO_0009665 disorder of patella null http://www.ebi.ac.uk/efo/EFO_0009665 node EFO_0002793 HL-60 null http://www.ebi.ac.uk/efo/EFO_0002793 node EFO_0002812 AB2.2 null http://www.ebi.ac.uk/efo/EFO_0002812 node EFO_0003635 obsolete_pharyngeal pouch 6 null http://www.ebi.ac.uk/efo/EFO_0003635 node NCBITaxon_9915 Bos indicus null http://purl.obolibrary.org/obo/NCBITaxon_9915 node UBERON_0008953 lower lobe of left lung null http://purl.obolibrary.org/obo/UBERON_0008953 node HP_0000473 Torticollis The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia. http://purl.obolibrary.org/obo/HP_0000473 node UBERON_0001054 Malpighian tubule null http://purl.obolibrary.org/obo/UBERON_0001054 node CHEBI_52717 bortezomib null http://purl.obolibrary.org/obo/CHEBI_52717 node HP_0001315 Reduced tendon reflexes The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect. http://purl.obolibrary.org/obo/HP_0001315 node UBERON_0002285 telencephalic ventricle modeled as space in EHDAA2 http://purl.obolibrary.org/obo/UBERON_0002285 node Orphanet_284160 8q21.11 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_284160 node Orphanet_276238 Machado-Joseph disease type 1 null http://www.orpha.net/ORDO/Orphanet_276238 node CLO_0033199 GM13883 null http://purl.obolibrary.org/obo/CLO_0033199 node CHEBI_16794 scopolamine null http://purl.obolibrary.org/obo/CHEBI_16794 node CHEBI_17636 sphingomyelin null http://purl.obolibrary.org/obo/CHEBI_17636 node Orphanet_99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria null http://www.orpha.net/ORDO/Orphanet_99646 node PO_0025074 embryo sac Produces an embryo sac egg cell (PO:0025123). http://purl.obolibrary.org/obo/PO_0025074 node Orphanet_137754 Neurological conditions associated with aminoacylase 1 deficiency null http://www.orpha.net/ORDO/Orphanet_137754 node Orphanet_20 3-hydroxy-3-methylglutaric aciduria null http://www.orpha.net/ORDO/Orphanet_20 node EFO_0002900 micromole per kilogram null http://www.ebi.ac.uk/efo/EFO_0002900 node OBI_0001162 validation by reverse transcription PCR design null http://purl.obolibrary.org/obo/OBI_0001162 node Orphanet_240760 Nijmegen breakage syndrome-like disorder null http://www.orpha.net/ORDO/Orphanet_240760 node EFO_0007007 ticagrelor measurement null http://www.ebi.ac.uk/efo/EFO_0007007 node NCBITaxon_4529 Oryza rufipogon null http://purl.obolibrary.org/obo/NCBITaxon_4529 node Orphanet_96097 Distal trisomy 5q null http://www.orpha.net/ORDO/Orphanet_96097 node CHEBI_16196 oleic acid null http://purl.obolibrary.org/obo/CHEBI_16196 node MONDO_0021322 malignant tumor of meninges null http://purl.obolibrary.org/obo/MONDO_0021322 node CHEBI_17724 N,N-dimethylglycine null http://purl.obolibrary.org/obo/CHEBI_17724 node Orphanet_2059 Fryns syndrome null http://www.orpha.net/ORDO/Orphanet_2059 node Orphanet_284408 Glycerol kinase deficiency, infantile form null http://www.orpha.net/ORDO/Orphanet_284408 node CHEBI_6198 (S)-azetidine-2-carboxylic acid null http://purl.obolibrary.org/obo/CHEBI_6198 node CHEBI_37154 fumarate(1-) null http://purl.obolibrary.org/obo/CHEBI_37154 node HP_0007034 Generalized hyperreflexia null http://purl.obolibrary.org/obo/HP_0007034 node Orphanet_86788 X-linked severe congenital neutropenia null http://www.orpha.net/ORDO/Orphanet_86788 node EFO_1001774 central nervous system venous angioma null http://www.ebi.ac.uk/efo/EFO_1001774 node EFO_0004208 Vitiligo null http://www.ebi.ac.uk/efo/EFO_0004208 node EFO_0000422 obsolete_dorsal pharyngeal muscle primordium null http://www.ebi.ac.uk/efo/EFO_0000422 node EFO_1001103 persistent fetal circulation syndrome Editor note: consider relationship to MONDO:0009934 http://www.ebi.ac.uk/efo/EFO_1001103 node EFO_0000903 obsolete_trigeminal ganglion null http://www.ebi.ac.uk/efo/EFO_0000903 node MONDO_0018575 microcephalic primordial dwarfism-insulin resistance syndrome null http://purl.obolibrary.org/obo/MONDO_0018575 node Orphanet_85146 Scapuloperoneal amyotrophy null http://www.orpha.net/ORDO/Orphanet_85146 node EFO_0005533 response to non-steroidal anti-inflammatory null http://www.ebi.ac.uk/efo/EFO_0005533 node EFO_0004606 gallbladder neoplasm null http://www.ebi.ac.uk/efo/EFO_0004606 node MONDO_0021631 brain astrocytoma null http://purl.obolibrary.org/obo/MONDO_0021631 node NCBITaxon_29390 Streptococcus gordonii str. Challis null http://purl.obolibrary.org/obo/NCBITaxon_29390 node Orphanet_2972 Non-eruption of teeth - maxillary hypoplasia - genu valgum null http://www.orpha.net/ORDO/Orphanet_2972 node EFO_0000716 obsolete_syndrome null http://www.ebi.ac.uk/efo/EFO_0000716 node EFO_1001407 Puerperal Infection null http://www.ebi.ac.uk/efo/EFO_1001407 node EFO_0004429 inbred null http://www.ebi.ac.uk/efo/EFO_0004429 node MONDO_0007653 genochondromatosis null http://purl.obolibrary.org/obo/MONDO_0007653 node MONDO_0004828 lower urinary tract calculus null http://purl.obolibrary.org/obo/MONDO_0004828 node Orphanet_2282 Dysmorphism - short stature - deafness - disorder of sex development null http://www.orpha.net/ORDO/Orphanet_2282 node HP_0002109 obsolete Abnormality of the bronchi null http://purl.obolibrary.org/obo/HP_0002109 node Orphanet_60015 Parietal foramina null http://www.orpha.net/ORDO/Orphanet_60015 node EFO_0000510 genetic modification null http://www.ebi.ac.uk/efo/EFO_0000510 node EFO_0010931 tumor necrosis factor receptor 1 measurement null http://www.ebi.ac.uk/efo/EFO_0010931 node MONDO_0017635 parkinsonian syndrome due to neurodegenerative disease Editor note: TODO checkme http://purl.obolibrary.org/obo/MONDO_0017635 node EFO_0007979 childhood trauma measurement null http://www.ebi.ac.uk/efo/EFO_0007979 node EFO_0000323 cell property null http://www.ebi.ac.uk/efo/EFO_0000323 node EFO_1001004 kidney papillary necrosis null http://www.ebi.ac.uk/efo/EFO_1001004 node HANCESTRO_0022 Korean null http://purl.obolibrary.org/obo/HANCESTRO_0022 node EFO_0000804 obsolete_respiratory system structure null http://www.ebi.ac.uk/efo/EFO_0000804 node CHEBI_18248 iron null http://purl.obolibrary.org/obo/CHEBI_18248 node EFO_0004517 arterial stiffness measurement null http://www.ebi.ac.uk/efo/EFO_0004517 node EFO_0010064 Pharmacotherapy null http://www.ebi.ac.uk/efo/EFO_0010064 node EFO_0008290 spondin-1 measurement null http://www.ebi.ac.uk/efo/EFO_0008290 node EFO_0007363 meibomian cyst null http://www.ebi.ac.uk/efo/EFO_0007363 node HP_0031481 Abnormal mitral valve physiology null http://purl.obolibrary.org/obo/HP_0031481 node MONDO_0045068 minor salivary gland adenoid cystic carcinoma null http://purl.obolibrary.org/obo/MONDO_0045068 node EFO_1001308 Embolism, Paradoxical null http://www.ebi.ac.uk/efo/EFO_1001308 node Orphanet_295028 Tibio-fibular synostosis null http://www.orpha.net/ORDO/Orphanet_295028 node EFO_0007176 bone giant cell tumor null http://www.ebi.ac.uk/efo/EFO_0007176 node CL_0002188 glomerular endothelial cell null http://purl.obolibrary.org/obo/CL_0002188 node Orphanet_1451 CINCA syndrome null http://www.orpha.net/ORDO/Orphanet_1451 node EFO_0006790 cerebral amyloid angiopathy null http://www.ebi.ac.uk/efo/EFO_0006790 node NCBITaxon_552467 Cryptococcus gattii null http://purl.obolibrary.org/obo/NCBITaxon_552467 node EFO_0007586 Cannabis use initiation null http://www.ebi.ac.uk/efo/EFO_0007586 node Orphanet_2591 Infantile myofibromatosis null http://www.orpha.net/ORDO/Orphanet_2591 node Orphanet_1264 Tricho-retino-dento-digital syndrome null http://www.orpha.net/ORDO/Orphanet_1264 node Orphanet_85322 X-linked intellectual disability, Pai type null http://www.orpha.net/ORDO/Orphanet_85322 node EFO_0008909 SCL-exo null http://www.ebi.ac.uk/efo/EFO_0008909 node MONDO_0001288 endometriosis of rectovaginal septum and vagina null http://purl.obolibrary.org/obo/MONDO_0001288 node Orphanet_599 Distal myopathy null http://www.orpha.net/ORDO/Orphanet_599 node Orphanet_209886 Familial juvenile hyperuricemic nephropathy type 1 null http://www.orpha.net/ORDO/Orphanet_209886 node EFO_0006319 HIV viral set point measurement null http://www.ebi.ac.uk/efo/EFO_0006319 node PO_0009072 plant ovary The enlarged rounded usually basal portion of the pistil or gynoecium of an angiospermous plant that bears the ovules and consists of one or more carpels. http://purl.obolibrary.org/obo/PO_0009072 node EFO_0008191 interleukin 8 measurement null http://www.ebi.ac.uk/efo/EFO_0008191 node CHEBI_15901 5,6-dihydrouracil null http://purl.obolibrary.org/obo/CHEBI_15901 node EFO_0007264 ethmoid sinusitis null http://www.ebi.ac.uk/efo/EFO_0007264 node EFO_0007674 Darwin's tubercule null http://www.ebi.ac.uk/efo/EFO_0007674 node Orphanet_383 X-linked mixed deafness with perilymphatic gusher null http://www.orpha.net/ORDO/Orphanet_383 node HP_0001883 Talipes Talipes means (a deformity of) foot and ankle. There are four types of talipes. 1) Talipes equinovarus - the foot is pointing inwards and down (the most common form) 2) Talipes equinovalgus - where the foot points outwards and down 3) Talipes calcaneovarus - where the foot points inwards and up 4) Talipes calcaneovalgus - where the foot points inwards and down. http://purl.obolibrary.org/obo/HP_0001883 node MONDO_0100131 pediatric acute respiratory distress syndrome null http://purl.obolibrary.org/obo/MONDO_0100131 node Orphanet_98908 Neutral lipid storage myopathy null http://www.orpha.net/ORDO/Orphanet_98908 node Orphanet_156071 Keratoconus null http://www.orpha.net/ORDO/Orphanet_156071 node EFO_0007511 tinea favosa null http://www.ebi.ac.uk/efo/EFO_0007511 node EFO_0007487 skeletal tuberculosis null http://www.ebi.ac.uk/efo/EFO_0007487 node Orphanet_2492 Limb transversal defect - cardiac anomaly null http://www.orpha.net/ORDO/Orphanet_2492 node EFO_0001457 RNA assay null http://www.ebi.ac.uk/efo/EFO_0001457 node EFO_0002384 obsolete_U266B1 null http://www.ebi.ac.uk/efo/EFO_0002384 node EFO_0006407 G28T null http://www.ebi.ac.uk/efo/EFO_0006407 node CL_0002060 melanophage null http://purl.obolibrary.org/obo/CL_0002060 node CHEBI_88670 dihomo-linoleate (20:2n6) null http://purl.obolibrary.org/obo/CHEBI_88670 node CL_0002358 pyrenocyte null http://purl.obolibrary.org/obo/CL_0002358 node EFO_0005908 obsolete_Oci-Ly-3 null http://www.ebi.ac.uk/efo/EFO_0005908 node Orphanet_263487 COG5-CDG null http://www.orpha.net/ORDO/Orphanet_263487 node NCBITaxon_15371 Bromus inermis null http://purl.obolibrary.org/obo/NCBITaxon_15371 node MONDO_0001160 dissociative disorder null http://purl.obolibrary.org/obo/MONDO_0001160 node EFO_0009455 lacrimal apparatus disease null http://www.ebi.ac.uk/efo/EFO_0009455 node Orphanet_769 Rabson-Mendenhall syndrome null http://www.orpha.net/ORDO/Orphanet_769 node Orphanet_139466 SERKAL syndrome null http://www.orpha.net/ORDO/Orphanet_139466 node EFO_1000948 gastroparesis null http://www.ebi.ac.uk/efo/EFO_1000948 node Orphanet_2878 Phocomelia - ectrodactyly - deafness - sinus arrhythmia null http://www.orpha.net/ORDO/Orphanet_2878 node EFO_1001185 smooth muscle tumor null http://www.ebi.ac.uk/efo/EFO_1001185 node EFO_0008361 environmental tobacco smoke exposure measurement null http://www.ebi.ac.uk/efo/EFO_0008361 node EFO_0007412 ossifying fibroma null http://www.ebi.ac.uk/efo/EFO_0007412 node CL_0002446 Ly49CI-negative natural killer cell, mouse null http://purl.obolibrary.org/obo/CL_0002446 node EFO_0004688 obsolete_long QT syndrome null http://www.ebi.ac.uk/efo/EFO_0004688 node EFO_0002870 VH-64 null http://www.ebi.ac.uk/efo/EFO_0002870 node NCBITaxon_9995 Marmota monax null http://purl.obolibrary.org/obo/NCBITaxon_9995 node EFO_0007820 cognitive behavioural therapy null http://www.ebi.ac.uk/efo/EFO_0007820 node EFO_0009543 disturbances of sensation of smell and taste null http://www.ebi.ac.uk/efo/EFO_0009543 node Orphanet_269528 Syndrome with microcephaly as major feature null http://www.orpha.net/ORDO/Orphanet_269528 node Orphanet_293381 Epithelial recurrent erosion dystrophy null http://www.orpha.net/ORDO/Orphanet_293381 node Orphanet_857 Townes-Brocks syndrome null http://www.orpha.net/ORDO/Orphanet_857 node NCBITaxon_35328 Bluetongue virus 2 null http://purl.obolibrary.org/obo/NCBITaxon_35328 node Orphanet_209182 Qualitative or quantitative defects of nebulin null http://www.orpha.net/ORDO/Orphanet_209182 node EFO_1001887 epicondylitis null http://www.ebi.ac.uk/efo/EFO_1001887 node HP_0010783 Erythema null http://purl.obolibrary.org/obo/HP_0010783 node EFO_0009356 Anti-mumps virus IgG measurement null http://www.ebi.ac.uk/efo/EFO_0009356 node Orphanet_1945 Rolandic epilepsy null http://www.orpha.net/ORDO/Orphanet_1945 node NCBITaxon_2184 Methanococcus null http://purl.obolibrary.org/obo/NCBITaxon_2184 node EFO_1001273 obsolete_Birt-Hogg-Dube Syndrome null http://www.ebi.ac.uk/efo/EFO_1001273 node Orphanet_269190 Encephaloclastic disorder null http://www.orpha.net/ORDO/Orphanet_269190 node EFO_0004776 alcohol and nicotine codependence null http://www.ebi.ac.uk/efo/EFO_0004776 node EFO_0000990 obsolete_meristem null http://www.ebi.ac.uk/efo/EFO_0000990 node EFO_1001086 paraphimosis null http://www.ebi.ac.uk/efo/EFO_1001086 node EFO_1001494 psoriasis vulgaris null http://www.ebi.ac.uk/efo/EFO_1001494 node NCBITaxon_52765 Caldicellulosiruptor kristjanssonii null http://purl.obolibrary.org/obo/NCBITaxon_52765 node MONDO_0033482 spinocerebellar ataxia 47 null http://purl.obolibrary.org/obo/MONDO_0033482 node Orphanet_95434 Autosomal recessive cerebellar ataxia - saccadic intrusion null http://www.orpha.net/ORDO/Orphanet_95434 node Orphanet_295175 Preaxial polydactyly of toes, unilateral null http://www.orpha.net/ORDO/Orphanet_295175 node EFO_1001975 vulvar leiomyosarcoma null http://www.ebi.ac.uk/efo/EFO_1001975 node EFO_0004997 type 2 diabetes nephropathy null http://www.ebi.ac.uk/efo/EFO_0004997 node Orphanet_319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency null http://www.orpha.net/ORDO/Orphanet_319589 node MONDO_0009179 recessive dystrophic epidermolysis bullosa null http://purl.obolibrary.org/obo/MONDO_0009179 node EFO_0005839 Sg4 null http://www.ebi.ac.uk/efo/EFO_0005839 node EFO_1000404 Ocular Melanoma with Extraocular Extension null http://www.ebi.ac.uk/efo/EFO_1000404 node CHEBI_47804 dibenzazepines null http://purl.obolibrary.org/obo/CHEBI_47804 node MONDO_0016397 lysosomal disease with epilepsy null http://purl.obolibrary.org/obo/MONDO_0016397 node Orphanet_73230 Ossification anomalies - psychomotor development delay null http://www.orpha.net/ORDO/Orphanet_73230 node EFO_0003355 obsolete_labral sensory complex primordium null http://www.ebi.ac.uk/efo/EFO_0003355 node EFO_0004178 reduced representation preparation null http://www.ebi.ac.uk/efo/EFO_0004178 node Orphanet_99811 Neuronal intestinal pseudoobstruction null http://www.orpha.net/ORDO/Orphanet_99811 node Orphanet_94089 Pseudohypoparathyroidism type 1B null http://www.orpha.net/ORDO/Orphanet_94089 node EFO_0000873 obsolete_lymph vessel null http://www.ebi.ac.uk/efo/EFO_0000873 node MONDO_0014805 16p13.2 microdeletion syndrome null http://purl.obolibrary.org/obo/MONDO_0014805 node Orphanet_1775 Dyskeratosis congenita Editor note: in ORDO this is X-linked but this is the inheritance-neutral form and non-X-linked forms exist http://www.orpha.net/ORDO/Orphanet_1775 node EFO_0009045 Fanconi anemia complementation group F null http://www.ebi.ac.uk/efo/EFO_0009045 node EFO_1001377 Neisseriaceae Infections null http://www.ebi.ac.uk/efo/EFO_1001377 node MONDO_0018178 intestinal lymphangiectasia (disease) null http://purl.obolibrary.org/obo/MONDO_0018178 node HP_0002079 Hypoplasia of the corpus callosum The corpus callosum appears thin in midline views of the brain in neuroradiological images. http://purl.obolibrary.org/obo/HP_0002079 node EFO_0003443 obsolete_presumptive paraxial mesoderm null http://www.ebi.ac.uk/efo/EFO_0003443 node CHEBI_72734 lysophosphatidylethanolamine 22:6 null http://purl.obolibrary.org/obo/CHEBI_72734 node Orphanet_141000 Orofaciodigital syndrome type 11 null http://www.orpha.net/ORDO/Orphanet_141000 node EFO_0002339 SKO007 null http://www.ebi.ac.uk/efo/EFO_0002339 node Orphanet_46059 Lathosterolosis null http://www.orpha.net/ORDO/Orphanet_46059 node HP_0001123 Visual field defect null http://purl.obolibrary.org/obo/HP_0001123 node Orphanet_3006 Pyridoxine-dependent epilepsy null http://www.orpha.net/ORDO/Orphanet_3006 node NCBITaxon_3349 Pinus sylvestris null http://purl.obolibrary.org/obo/NCBITaxon_3349 node NCBITaxon_342108 Magnetospirillum magneticum AMB-1 null http://purl.obolibrary.org/obo/NCBITaxon_342108 node EFO_0009133 cholesteryl ester transfer protein measurement null http://www.ebi.ac.uk/efo/EFO_0009133 node EFO_0003079 obsolete_X-linked agammaglobulinemia null http://www.ebi.ac.uk/efo/EFO_0003079 node NCBITaxon_192399 Eucalyptus grandis x Eucalyptus urophylla null http://purl.obolibrary.org/obo/NCBITaxon_192399 node HP_0000019 Urinary hesitancy null http://purl.obolibrary.org/obo/HP_0000019 node Orphanet_401996 Karyomegalic interstitial nephritis null http://www.orpha.net/ORDO/Orphanet_401996 node EFO_0006887 radiologic finding null http://www.ebi.ac.uk/efo/EFO_0006887 node MONDO_0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade Editor note: TODO apply G1/G2 pattern http://purl.obolibrary.org/obo/MONDO_0015064 node UBERON_0001003 skin epidermis null http://purl.obolibrary.org/obo/UBERON_0001003 node HP_0002167 Neurological speech impairment null http://purl.obolibrary.org/obo/HP_0002167 node NCBITaxon_13427 Cichorium intybus null http://purl.obolibrary.org/obo/NCBITaxon_13427 node EFO_0003531 obsolete_trunk musculature null http://www.ebi.ac.uk/efo/EFO_0003531 node CHEBI_64216 metergoline null http://purl.obolibrary.org/obo/CHEBI_64216 node UBERON_0004741 cleithrum null http://purl.obolibrary.org/obo/UBERON_0004741 node NCBITaxon_149539 Salmonella enterica subsp. enterica serovar Enteritidis null http://purl.obolibrary.org/obo/NCBITaxon_149539 node Orphanet_93222 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation null http://www.orpha.net/ORDO/Orphanet_93222 node EFO_0004293 recombination null http://www.ebi.ac.uk/efo/EFO_0004293 node MONDO_0002786 diencephalic cancer null http://purl.obolibrary.org/obo/MONDO_0002786 node Orphanet_262065 Partial deletion of the long arm of chromosome 8 null http://www.orpha.net/ORDO/Orphanet_262065 node EFO_0000014 CS57556 null http://www.ebi.ac.uk/efo/EFO_0000014 node EFO_0010640 chronic post-operative pain measurement null http://www.ebi.ac.uk/efo/EFO_0010640 node Orphanet_168549 Axial spondylometaphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_168549 node EFO_0005125 RNAlater specimen null http://www.ebi.ac.uk/efo/EFO_0005125 node EFO_1000227 Dysplasia of Larynx null http://www.ebi.ac.uk/efo/EFO_1000227 node Orphanet_98878 Hemophilia A null http://www.orpha.net/ORDO/Orphanet_98878 node MONDO_0002874 testicular pure germ cell tumor null http://purl.obolibrary.org/obo/MONDO_0002874 node MONDO_0000461 nutritional biotin deficiency Editor note: the DO class is 'biotin deficiency' but DO places as a subclass of nutritional. Consider adding grouping for inborn form, see PMID:3318710. MESH seems to refer to this? http://purl.obolibrary.org/obo/MONDO_0000461 node HP_0011220 Prominent forehead Not to be confused with frontal bossing. http://purl.obolibrary.org/obo/HP_0011220 node EFO_0000102 obsolete_B lymphocyte null http://www.ebi.ac.uk/efo/EFO_0000102 node MONDO_0024519 renal hypodysplasia/aplasia 1 null http://purl.obolibrary.org/obo/MONDO_0024519 node EFO_0005213 central corneal thickness null http://www.ebi.ac.uk/efo/EFO_0005213 node EFO_1000315 Kidney Oncocytoma null http://www.ebi.ac.uk/efo/EFO_1000315 node MONDO_0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive null http://purl.obolibrary.org/obo/MONDO_0032938 node MONDO_0017021 secondary interstitial lung disease specific to childhood associated with a connective tissue disease null http://purl.obolibrary.org/obo/MONDO_0017021 node EFO_0007365 mesoblastic nephroma null http://www.ebi.ac.uk/efo/EFO_0007365 node Orphanet_2921 Preaxial polydactyly - colobomata - intellectual disability null http://www.orpha.net/ORDO/Orphanet_2921 node Orphanet_2013 Cleft palate - large ears - small head null http://www.orpha.net/ORDO/Orphanet_2013 node UO_0000009 kilogram null http://purl.obolibrary.org/obo/UO_0000009 node Orphanet_183524 Rare genetic bone disease null http://www.orpha.net/ORDO/Orphanet_183524 node EFO_0007178 borna disease null http://www.ebi.ac.uk/efo/EFO_0007178 node MONDO_0021218 placenta neoplasm null http://purl.obolibrary.org/obo/MONDO_0021218 node EFO_0006271 ARPE-19 null http://www.ebi.ac.uk/efo/EFO_0006271 node EFO_0003848 obsolete_cardiovascular abnormality null http://www.ebi.ac.uk/efo/EFO_0003848 node Orphanet_268950 Cerebral cortical dysplasia null http://www.orpha.net/ORDO/Orphanet_268950 node Orphanet_2101 Grubben-de Cock-Borghgraef syndrome null http://www.orpha.net/ORDO/Orphanet_2101 node EFO_1000158 Central Nervous System Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000158 node EFO_1000639 acquired metabolic disease null http://www.ebi.ac.uk/efo/EFO_1000639 node EFO_0007266 eunuchism null http://www.ebi.ac.uk/efo/EFO_0007266 node Orphanet_2822 Autosomal recessive spastic paraplegia type 11 null http://www.orpha.net/ORDO/Orphanet_2822 node CHEBI_50527 arsenic oxide null http://purl.obolibrary.org/obo/CHEBI_50527 node EFO_0008052 C-C motif chemokine 3-like 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008052 node Orphanet_86812 Autosomal recessive limb-girdle muscular dystrophy type 2K null http://www.orpha.net/ORDO/Orphanet_86812 node NCBITaxon_260799 Bacillus anthracis str. Sterne null http://purl.obolibrary.org/obo/NCBITaxon_260799 node Orphanet_98560 Rare palpebral disease null http://www.orpha.net/ORDO/Orphanet_98560 node Orphanet_163649 Spondyloepiphyseal dysplasia, Nishimura type null http://www.orpha.net/ORDO/Orphanet_163649 node EFO_1001350 Immunoblastic Lymphadenopathy null http://www.ebi.ac.uk/efo/EFO_1001350 node MONDO_0003182 anterior horn disease TODO - check this. DO places as a subtype of SMA, but we invert this. Consider merging into MND http://purl.obolibrary.org/obo/MONDO_0003182 node EFO_1001831 pseudolymphoma null http://www.ebi.ac.uk/efo/EFO_1001831 node NCBITaxon_7165 Anopheles gambiae null http://purl.obolibrary.org/obo/NCBITaxon_7165 node EFO_0008756 GRO-CAP null http://www.ebi.ac.uk/efo/EFO_0008756 node EFO_1000246 Ethmoid Sinus Adenoid Cystic Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000246 node EFO_0009803 number of treatments or medications taken, self-reported null http://www.ebi.ac.uk/efo/EFO_0009803 node EFO_0003749 MeDIP-seq null http://www.ebi.ac.uk/efo/EFO_0003749 node EFO_0001955 heart component null http://www.ebi.ac.uk/efo/EFO_0001955 node Orphanet_231720 Non-acquired combined pituitary hormone deficiency with spine abnormalities null http://www.orpha.net/ORDO/Orphanet_231720 node EFO_0008140 gp41 C34 peptide, HIV measurement null http://www.ebi.ac.uk/efo/EFO_0008140 node EFO_0001265 obsolete_female null http://www.ebi.ac.uk/efo/EFO_0001265 node EFO_0000096 neoplasm of mature B-cells Editor note: is a non-hodgkin in ONCOTREE http://www.ebi.ac.uk/efo/EFO_0000096 node EFO_0000681 renal cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0000681 node UBERON_0006479 Brodmann (1909) area 38 null http://purl.obolibrary.org/obo/UBERON_0006479 node CL_0002038 T follicular helper cell null http://purl.obolibrary.org/obo/CL_0002038 node EFO_0001088 obsolete_Beas2B null http://www.ebi.ac.uk/efo/EFO_0001088 node Orphanet_85 Congenital dyserythropoietic anemia null http://www.orpha.net/ORDO/Orphanet_85 node Orphanet_180074 True unicornuate uterus null http://www.orpha.net/ORDO/Orphanet_180074 node EFO_1000809 anterior ischemic optic neuropathy null http://www.ebi.ac.uk/efo/EFO_1000809 node MONDO_0002242 coagulation protein disease null http://purl.obolibrary.org/obo/MONDO_0002242 node GO_0007165 signal transduction Note that signal transduction is defined broadly to include a ligand interacting with a receptor, downstream signaling steps and a response being triggered. A change in form of the signal in every step is not necessary. Note that in many cases the end of this process is regulation of the initiation of transcription. Note that specific transcription factors may be annotated to this term, but core/general transcription machinery such as RNA polymerase should not. http://purl.obolibrary.org/obo/GO_0007165 node EFO_0004941 T3a tumor stage null http://www.ebi.ac.uk/efo/EFO_0004941 node EFO_0008844 PAPERCLIP null http://www.ebi.ac.uk/efo/EFO_0008844 node EFO_1000334 Lung Lymphangioleiomyomatosis null http://www.ebi.ac.uk/efo/EFO_1000334 node Orphanet_178377 Osteosclerosis-developmental delay-craniosynostosis syndrome null http://www.orpha.net/ORDO/Orphanet_178377 node MONDO_0014885 Hermansky-Pudlak syndrome 10 null http://purl.obolibrary.org/obo/MONDO_0014885 node FBbt_00005824 lateral cord surface glial cell null http://purl.obolibrary.org/obo/FBbt_00005824 node HP_0002140 Ischemic stroke null http://purl.obolibrary.org/obo/HP_0002140 node EFO_0002809 4483 null http://www.ebi.ac.uk/efo/EFO_0002809 node EFO_0002351 SNU5 null http://www.ebi.ac.uk/efo/EFO_0002351 node EFO_0008657 BLESS null http://www.ebi.ac.uk/efo/EFO_0008657 node EFO_0000659 obsolete_ploidy null http://www.ebi.ac.uk/efo/EFO_0000659 node EFO_1000091 Appendix Hyperplastic Polyp null http://www.ebi.ac.uk/efo/EFO_1000091 node EFO_0001353 Lewis null http://www.ebi.ac.uk/efo/EFO_0001353 node HP_0000031 Epididymitis null http://purl.obolibrary.org/obo/HP_0000031 node NCBITaxon_2361 Calyptogena magnifica symbiont null http://purl.obolibrary.org/obo/NCBITaxon_2361 node EFO_0009217 Hemoglobin D to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009217 node MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease null http://purl.obolibrary.org/obo/MONDO_0018788 node MONDO_0034103 infection-related hemolytic uremic syndrome null http://purl.obolibrary.org/obo/MONDO_0034103 node NCBITaxon_3714 Brassica oleracea var. alboglabra null http://purl.obolibrary.org/obo/NCBITaxon_3714 node EFO_1000795 acute retinal necrosis syndrome null http://www.ebi.ac.uk/efo/EFO_1000795 node CLO_0013833 GM17206 null http://purl.obolibrary.org/obo/CLO_0013833 node EFO_0000266 aortic stenosis null http://www.ebi.ac.uk/efo/EFO_0000266 node MONDO_0021662 bile duct neoplasm null http://purl.obolibrary.org/obo/MONDO_0021662 node HP_0000077 Abnormality of the kidney The kidney is a paired organ whose primary function is the production of urine. http://purl.obolibrary.org/obo/HP_0000077 node EFO_0000747 antigen profiling null http://www.ebi.ac.uk/efo/EFO_0000747 node EFO_0003134 HCC461 null http://www.ebi.ac.uk/efo/EFO_0003134 node UBERON_0002170 upper lobe of right lung null http://purl.obolibrary.org/obo/UBERON_0002170 node Orphanet_1168 Ataxia - oculomotor apraxia type 1 Editor note: see PMID:17094036 for a discussion of relationship to CoQ10 deficiency. This is not a primary CoQ10 deficiency, http://www.orpha.net/ORDO/Orphanet_1168 node CHEBI_63043 potassium nitrate null http://purl.obolibrary.org/obo/CHEBI_63043 node Orphanet_247685 Odontohypophosphatasia null http://www.orpha.net/ORDO/Orphanet_247685 node EFO_0009305 total glycated albumin null http://www.ebi.ac.uk/efo/EFO_0009305 node Orphanet_79204 Lipid storage disease null http://www.orpha.net/ORDO/Orphanet_79204 node EFO_0000968 obsolete_abdomen null http://www.ebi.ac.uk/efo/EFO_0000968 node Orphanet_220 Denys-Drash syndrome null http://www.orpha.net/ORDO/Orphanet_220 node EFO_0002040 B117H null http://www.ebi.ac.uk/efo/EFO_0002040 node EFO_0002504 serous cystadenoma null http://www.ebi.ac.uk/efo/EFO_0002504 node CLO_0013921 GM17218 null http://purl.obolibrary.org/obo/CLO_0013921 node EFO_0000354 obsolete_clinical information null http://www.ebi.ac.uk/efo/EFO_0000354 node EFO_1001035 maxillary sinus neoplasm null http://www.ebi.ac.uk/efo/EFO_1001035 node Orphanet_1256 Blepharophimosis - radioulnar synostosis null http://www.orpha.net/ORDO/Orphanet_1256 node EFO_0008775 icSHAPE null http://www.ebi.ac.uk/efo/EFO_0008775 node EFO_0006981 Catania ecotype null http://www.ebi.ac.uk/efo/EFO_0006981 node Orphanet_93402 Syndactyly type 1 null http://www.orpha.net/ORDO/Orphanet_93402 node CL_0000943 Be1 Cell Be1 cells are also reportedly capable of secreting IL-6, IL-10, and IL-12. They are also reportedly CD11b-negative and B220-positive. http://purl.obolibrary.org/obo/CL_0000943 node CHEBI_80730 Coronatine null http://purl.obolibrary.org/obo/CHEBI_80730 node Orphanet_261183 15q11.2 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261183 node MONDO_0024295 skin disease caused by bacterial infection null http://purl.obolibrary.org/obo/MONDO_0024295 node EFO_0010178 non-lobar intracerebral hemorrhage null http://www.ebi.ac.uk/efo/EFO_0010178 node MONDO_0060704 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures null http://purl.obolibrary.org/obo/MONDO_0060704 node EFO_0004072 AA120 null http://www.ebi.ac.uk/efo/EFO_0004072 node EFO_0010659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies null http://www.ebi.ac.uk/efo/EFO_0010659 node Orphanet_83619 Macrostomia - preauricular tags - external ophthalmoplegia null http://www.orpha.net/ORDO/Orphanet_83619 node MONDO_0000866 myoglobinuria TODO: cede to HPO http://purl.obolibrary.org/obo/MONDO_0000866 node CHEBI_9150 simvastatin null http://purl.obolibrary.org/obo/CHEBI_9150 node MONDO_0014993 myofibrillar myopathy 8 null http://purl.obolibrary.org/obo/MONDO_0014993 node GO_1902520 response to doxorubicin null http://purl.obolibrary.org/obo/GO_1902520 node MONDO_0019263 autosomal erythropoietic protoporphyria null http://purl.obolibrary.org/obo/MONDO_0019263 node CL_0000550 polychromatophilic erythroblast null http://purl.obolibrary.org/obo/CL_0000550 node CL_0000826 pro-B cell Human pro-B cells are reportedly CD10-positive, CD22-positive, CD34-positive, CD38-positive, CD45-low, CD48-positive, CD79a-positive, CD127-positive, CD184-positive, RAG-positive, TdT-positive, Vpre-B-positive, pre-BCR-negative, IgD-negative, and IgM-negative. Transcription factors expressed: Pax5-positive, EBF-positive, E2A-negative, Ikaros-negative, and PU.1-negative. http://purl.obolibrary.org/obo/CL_0000826 node Orphanet_2542 Isolated anophthalmia - microphthalmia null http://www.orpha.net/ORDO/Orphanet_2542 node EFO_0005618 thoracic aortic raised atherosclerotic lesion null http://www.ebi.ac.uk/efo/EFO_0005618 node CLO_0014037 GM17177 null http://purl.obolibrary.org/obo/CLO_0014037 node EFO_0004132 obsolete_aniridia null http://www.ebi.ac.uk/efo/EFO_0004132 node CL_0002110 B220-low CD38-positive naive B cell null http://purl.obolibrary.org/obo/CL_0002110 node Orphanet_79135 Episodic ataxia type 3 null http://www.orpha.net/ORDO/Orphanet_79135 node MONDO_0011153 hyperinsulinemic hypoglycemia, familial, 2 null http://purl.obolibrary.org/obo/MONDO_0011153 node EFO_0003028 acute myeloblastic leukemia with maturation null http://www.ebi.ac.uk/efo/EFO_0003028 node EFO_0008287 SLAM family member 7 measurement null http://www.ebi.ac.uk/efo/EFO_0008287 node EFO_0007923 response to terbinafine null http://www.ebi.ac.uk/efo/EFO_0007923 node CL_0001006 dermal dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000019)(PMID:19243617). These cells are also CD281-positive (TLR1), CD282-positive (TLR2), CD283-positive (TLR3), CD284-positive (TLR4), CD285-positive (TLR5), CD288-positive (TLR8), and CD289-positive (TLR9). http://purl.obolibrary.org/obo/CL_0001006 node Orphanet_1448 Ring chromosome 6 null http://www.orpha.net/ORDO/Orphanet_1448 node EFO_0002862 STA-ET-1 null http://www.ebi.ac.uk/efo/EFO_0002862 node EFO_0006578 GTL-16 null http://www.ebi.ac.uk/efo/EFO_0006578 node EFO_0007625 asthenia null http://www.ebi.ac.uk/efo/EFO_0007625 node EFO_0004220 chronic hepatitis C virus infection null http://www.ebi.ac.uk/efo/EFO_0004220 node EFO_0002498 aggressive insulitis null http://www.ebi.ac.uk/efo/EFO_0002498 node EFO_0007530 urinary schistosomiasis null http://www.ebi.ac.uk/efo/EFO_0007530 node MONDO_0000307 parasitic Ichthyosporea infectious disease null http://purl.obolibrary.org/obo/MONDO_0000307 node CL_0002011 Kit-positive macrophage dendritic cell progenitor Markers are associated with mouse cells. http://purl.obolibrary.org/obo/CL_0002011 node HP_0000763 Sensory neuropathy null http://purl.obolibrary.org/obo/HP_0000763 node Orphanet_370002 Focal palmoplantar keratoderma with joint keratoses null http://www.orpha.net/ORDO/Orphanet_370002 node Orphanet_315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form null http://www.orpha.net/ORDO/Orphanet_315311 node Orphanet_158661 Suprabasal epidermolysis bullosa simplex null http://www.orpha.net/ORDO/Orphanet_158661 node CHEBI_84660 triacylglycerol 52:4 null http://purl.obolibrary.org/obo/CHEBI_84660 node MONDO_0002477 prostate neuroendocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0002477 node CL_0000521 fungal cell null http://purl.obolibrary.org/obo/CL_0000521 node NCBITaxon_61434 Dehalococcoides null http://purl.obolibrary.org/obo/NCBITaxon_61434 node EFO_0002763 obsolete_ChIP-seq by high throughput sequencing null http://www.ebi.ac.uk/efo/EFO_0002763 node EFO_0006666 NCI-H1915 null http://www.ebi.ac.uk/efo/EFO_0006666 node Orphanet_2513 Microcephaly - albinism - digital anomalies null http://www.orpha.net/ORDO/Orphanet_2513 node EFO_0007508 tick infestation null http://www.ebi.ac.uk/efo/EFO_0007508 node HP_0004325 Decreased body weight null http://purl.obolibrary.org/obo/HP_0004325 node GO_0002524 hypersensitivity null http://purl.obolibrary.org/obo/GO_0002524 node EFO_0002586 Theiler stage 24 null http://www.ebi.ac.uk/efo/EFO_0002586 node EFO_0005070 aminosilane substrate coating null http://www.ebi.ac.uk/efo/EFO_0005070 node Orphanet_93924 Lobar holoprosencephaly null http://www.orpha.net/ORDO/Orphanet_93924 node EFO_0002984 ILSXISS48/TejJ null http://www.ebi.ac.uk/efo/EFO_0002984 node UO_0000182 density unit null http://purl.obolibrary.org/obo/UO_0000182 node Orphanet_369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome null http://www.orpha.net/ORDO/Orphanet_369979 node EFO_0007039 human herpesvirus 8 seropositivity null http://www.ebi.ac.uk/efo/EFO_0007039 node CHEBI_16990 bilirubin null http://purl.obolibrary.org/obo/CHEBI_16990 node Orphanet_713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency null http://www.orpha.net/ORDO/Orphanet_713 node EFO_0008921 SHAPE-MaP null http://www.ebi.ac.uk/efo/EFO_0008921 node BTO_0001615 colorectal cancer cell null http://purl.obolibrary.org/obo/BTO_0001615 node UBERON_0007097 chordo neural hinge null http://purl.obolibrary.org/obo/UBERON_0007097 node Orphanet_397725 COASY protein-associated neurodegeneration null http://www.orpha.net/ORDO/Orphanet_397725 node GO_0035815 positive regulation of renal sodium excretion The amount of sodium excreted in urine over a unit of time can be increased by increasing the volume of urine produced (diuresis) and/or by increasing the concentration of sodium in the urine. http://purl.obolibrary.org/obo/GO_0035815 node EFO_0009076 nonsyndromic deafness null http://www.ebi.ac.uk/efo/EFO_0009076 node EFO_0007817 sleep apnea measurement null http://www.ebi.ac.uk/efo/EFO_0007817 node UO_0000065 nanomolar null http://purl.obolibrary.org/obo/UO_0000065 node MONDO_0002172 otosalpingitis null http://purl.obolibrary.org/obo/MONDO_0002172 node Orphanet_251383 CK syndrome null http://www.orpha.net/ORDO/Orphanet_251383 node EFO_0007127 actinobacillosis null http://www.ebi.ac.uk/efo/EFO_0007127 node EFO_0001430 population based design null http://www.ebi.ac.uk/efo/EFO_0001430 node EFO_0005581 red-green color blindness null http://www.ebi.ac.uk/efo/EFO_0005581 node EFO_0004632 nevus count null http://www.ebi.ac.uk/efo/EFO_0004632 node EFO_0005394 MLO-Y4 null http://www.ebi.ac.uk/efo/EFO_0005394 node EFO_0009297 fg syndrome null http://www.ebi.ac.uk/efo/EFO_0009297 node NCBITaxon_6289 Haemonchus contortus null http://purl.obolibrary.org/obo/NCBITaxon_6289 node Orphanet_3219 Fountain syndrome null http://www.orpha.net/ORDO/Orphanet_3219 node Orphanet_98920 Spinal muscular atrophy with respiratory distress type 1 null http://www.orpha.net/ORDO/Orphanet_98920 node EFO_0006597 IGR-37 null http://www.ebi.ac.uk/efo/EFO_0006597 node EFO_0007215 composite lymphoma null http://www.ebi.ac.uk/efo/EFO_0007215 node MONDO_0015277 medullary thyroid gland carcinoma null http://purl.obolibrary.org/obo/MONDO_0015277 node Orphanet_94150 Anonychia congenita totalis null http://www.orpha.net/ORDO/Orphanet_94150 node MONDO_0015758 primary cutaneous T-cell lymphoma null http://purl.obolibrary.org/obo/MONDO_0015758 node EFO_1001328 fluoride poisoning null http://www.ebi.ac.uk/efo/EFO_1001328 node HP_0100249 Calcification of muscles null http://purl.obolibrary.org/obo/HP_0100249 node EFO_0005482 416B null http://www.ebi.ac.uk/efo/EFO_0005482 node MONDO_0004863 purulent endophthalmitis null http://purl.obolibrary.org/obo/MONDO_0004863 node EFO_0009385 familial tumoral calcinosis null http://www.ebi.ac.uk/efo/EFO_0009385 node Orphanet_3307 Tetrasomy 18p null http://www.orpha.net/ORDO/Orphanet_3307 node EFO_0010427 triacylglycerol 54:9 measurement null http://www.ebi.ac.uk/efo/EFO_0010427 node Orphanet_1520 Craniofrontonasal dysplasia null http://www.orpha.net/ORDO/Orphanet_1520 node EFO_0000431 obsolete_ductal breast carcinoma null http://www.ebi.ac.uk/efo/EFO_0000431 node EFO_0004802 family size null http://www.ebi.ac.uk/efo/EFO_0004802 node EFO_0000912 obsolete_telencephalon null http://www.ebi.ac.uk/efo/EFO_0000912 node NCBITaxon_75702 Populus euphratica null http://purl.obolibrary.org/obo/NCBITaxon_75702 node Orphanet_1333 Familial pancreatic carcinoma null http://www.orpha.net/ORDO/Orphanet_1333 node EFO_1000093 Appendix Villous Adenoma null http://www.ebi.ac.uk/efo/EFO_1000093 node EFO_0001904 obsolete_basal plate null http://www.ebi.ac.uk/efo/EFO_0001904 node HP_0012649 Increased inflammatory response null http://purl.obolibrary.org/obo/HP_0012649 node MONDO_0015846 syndromic uterovaginal malformation null http://purl.obolibrary.org/obo/MONDO_0015846 node EFO_1001416 rheumatic fever nodule null http://www.ebi.ac.uk/efo/EFO_1001416 node EFO_0000045 CS57629 null http://www.ebi.ac.uk/efo/EFO_0000045 node EFO_0004919 metastasis free survival null http://www.ebi.ac.uk/efo/EFO_0004919 node EFO_0004367 induces sterile inflammation null http://www.ebi.ac.uk/efo/EFO_0004367 node EFO_0010034 Cappable-Seq null http://www.ebi.ac.uk/efo/EFO_0010034 node NCBITaxon_32025 Helicobacter hepaticus null http://purl.obolibrary.org/obo/NCBITaxon_32025 node EFO_1001200 sulfhemoglobinemia null http://www.ebi.ac.uk/efo/EFO_1001200 node NCBITaxon_4959 Debaryomyces hansenii null http://purl.obolibrary.org/obo/NCBITaxon_4959 node EFO_0007988 myeloid white cell count null http://www.ebi.ac.uk/efo/EFO_0007988 node Orphanet_1421 Lethal chondrodysplasia, Seller type null http://www.orpha.net/ORDO/Orphanet_1421 node EFO_0005630 CEL data file format null http://www.ebi.ac.uk/efo/EFO_0005630 node EFO_0004703 age at menarche null http://www.ebi.ac.uk/efo/EFO_0004703 node EFO_1001504 small vessel stroke null http://www.ebi.ac.uk/efo/EFO_1001504 node EFO_0010736 cortical surface area measurement null http://www.ebi.ac.uk/efo/EFO_0010736 node CHEBI_24606 homoarginine null http://purl.obolibrary.org/obo/CHEBI_24606 node Orphanet_210144 Lethal polymalformative syndrome, Boissel type null http://www.orpha.net/ORDO/Orphanet_210144 node bao#BAO_0000875 Cyclic adenosine monophosphate null http://www.bioassayontology.org/bao#BAO_0000875 node CLO_0014945 GM17114 null http://purl.obolibrary.org/obo/CLO_0014945 node EFO_0002042 B140H null http://www.ebi.ac.uk/efo/EFO_0002042 node EFO_1001902 neuromuscular disease null http://www.ebi.ac.uk/efo/EFO_1001902 node MONDO_0017234 inherited prion disease null http://purl.obolibrary.org/obo/MONDO_0017234 node EFO_0010343 cholesteryl ester 18:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010343 node EFO_0007899 gamma-tocopherol measurement null http://www.ebi.ac.uk/efo/EFO_0007899 node EFO_0010824 response to rhododendrol null http://www.ebi.ac.uk/efo/EFO_0010824 node Orphanet_2947 Triphalangeal thumbs - brachyectrodactyly null http://www.orpha.net/ORDO/Orphanet_2947 node EFO_0005309 Ta stage null http://www.ebi.ac.uk/efo/EFO_0005309 node HP_0003074 Hyperglycemia null http://purl.obolibrary.org/obo/HP_0003074 node BTO_0000690 brain cancer cell line null http://purl.obolibrary.org/obo/BTO_0000690 node GO_0044464 cell part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0044464 node CHEBI_17755 cystathionine null http://purl.obolibrary.org/obo/CHEBI_17755 node Orphanet_1040 Metaphyseal anadysplasia null http://www.orpha.net/ORDO/Orphanet_1040 node MONDO_0001572 leiomyoma null http://purl.obolibrary.org/obo/MONDO_0001572 node CHEBI_17568 uracil null http://purl.obolibrary.org/obo/CHEBI_17568 node Orphanet_199340 Muscular dystrophy, Selcen type null http://www.orpha.net/ORDO/Orphanet_199340 node EFO_0007316 Human T-lymphotropic virus 1 infectious disease null http://www.ebi.ac.uk/efo/EFO_0007316 node MONDO_0036870 lymphatic vessel neoplasm null http://purl.obolibrary.org/obo/MONDO_0036870 node HP_0031456 Ectopic pregnancy null http://purl.obolibrary.org/obo/HP_0031456 node Orphanet_1018 X-linked diffuse leiomyomatosis - Alport syndrome null http://www.orpha.net/ORDO/Orphanet_1018 node HP_0010059 Broad hallux phalanx null http://purl.obolibrary.org/obo/HP_0010059 node EFO_0006930 brain volume measurement null http://www.ebi.ac.uk/efo/EFO_0006930 node NCBITaxon_393130 Listeria monocytogenes J0161 null http://purl.obolibrary.org/obo/NCBITaxon_393130 node MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 null http://purl.obolibrary.org/obo/MONDO_0011459 node Orphanet_3085 Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism null http://www.orpha.net/ORDO/Orphanet_3085 node EFO_0006743 RERF-GC-1B null http://www.ebi.ac.uk/efo/EFO_0006743 node EFO_0009945 psychological resilience measurement null http://www.ebi.ac.uk/efo/EFO_0009945 node CHEBI_23051 castasterone null http://purl.obolibrary.org/obo/CHEBI_23051 node MONDO_0021077 cystic neoplasm null http://purl.obolibrary.org/obo/MONDO_0021077 node NCBITaxon_233412 Haemophilus ducreyi 35000HP null http://purl.obolibrary.org/obo/NCBITaxon_233412 node HP_0003244 Penile hypospadias null http://purl.obolibrary.org/obo/HP_0003244 node EFO_0007404 opisthorchiasis null http://www.ebi.ac.uk/efo/EFO_0007404 node Orphanet_199241 Pulmonary capillary hemangiomatosis Editor note: check ORDO class - not clear if it intends to be the same as PVOD2 http://www.orpha.net/ORDO/Orphanet_199241 node EFO_0007217 congenital nystagmus null http://www.ebi.ac.uk/efo/EFO_0007217 node Orphanet_3173 Infantile spasms - broad thumbs null http://www.orpha.net/ORDO/Orphanet_3173 node EFO_0007780 periodontal measurement null http://www.ebi.ac.uk/efo/EFO_0007780 node EFO_0006831 acute insulin response measurement null http://www.ebi.ac.uk/efo/EFO_0006831 node EFO_1001896 lateral epicondylitis null http://www.ebi.ac.uk/efo/EFO_1001896 node Orphanet_42642 PFAPA syndrome Editor note: TODO check NCIT assigns this to be autoimmune but this is likely a mistake http://www.orpha.net/ORDO/Orphanet_42642 node HP_0001787 Abnormal delivery null http://purl.obolibrary.org/obo/HP_0001787 node Orphanet_268947 Unilateral focal polymicrogyria null http://www.orpha.net/ORDO/Orphanet_268947 node MONDO_0032751 arthrogryposis, distal, type 2b3 null http://purl.obolibrary.org/obo/MONDO_0032751 node Orphanet_75858 MORM syndrome null http://www.orpha.net/ORDO/Orphanet_75858 node Orphanet_3056 X-linked intellectual disability, Brooks type null http://www.orpha.net/ORDO/Orphanet_3056 node Orphanet_226292 Permanent congenital hypothyroidism null http://www.orpha.net/ORDO/Orphanet_226292 node Orphanet_98762 Spinocerebellar ataxia type 12 null http://www.orpha.net/ORDO/Orphanet_98762 node EFO_1001984 cardiac amyloidosis HP:0030843 http://www.ebi.ac.uk/efo/EFO_1001984 node MONDO_0003366 hydrarthrosis null http://purl.obolibrary.org/obo/MONDO_0003366 node Orphanet_3464 Woodhouse-Sakati syndrome null http://www.orpha.net/ORDO/Orphanet_3464 node MONDO_0000009 inherited bleeding disorder, platelet-type null http://purl.obolibrary.org/obo/MONDO_0000009 node EFO_0002624 obsolete_spinocerebellar ataxia null http://www.ebi.ac.uk/efo/EFO_0002624 node EFO_0007681 triglyceride change measurement null http://www.ebi.ac.uk/efo/EFO_0007681 node Orphanet_90652 Otopalatodigital syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_90652 node GO_0045184 establishment of protein localization null http://purl.obolibrary.org/obo/GO_0045184 node HP_0011398 Central hypotonia null http://purl.obolibrary.org/obo/HP_0011398 node EFO_0009241 Monocytoid Cells to Leukocytes Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009241 node CHEBI_25646 octanoate null http://purl.obolibrary.org/obo/CHEBI_25646 node EFO_0008700 CREST-seq null http://www.ebi.ac.uk/efo/EFO_0008700 node EFO_0002189 HCT8 null http://www.ebi.ac.uk/efo/EFO_0002189 node EFO_0000678 pterygium null http://www.ebi.ac.uk/efo/EFO_0000678 node HP_0002938 Lumbar hyperlordosis null http://purl.obolibrary.org/obo/HP_0002938 node MONDO_0014741 facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation null http://purl.obolibrary.org/obo/MONDO_0014741 node EFO_0009462 granuloma null http://www.ebi.ac.uk/efo/EFO_0009462 node EFO_0000720 test result null http://www.ebi.ac.uk/efo/EFO_0000720 node EFO_0002712 KIF5 While it is used in studies where pancreatic cell lines are also used, Kif-5 (the preferred name) are foreskin fibroblast. As described in: RX PubMed=11238448; DOI=10.1083/jcb.152.5.911; "Foreskin-derived fibroblasts (Kif-5) were used for coculture experiments. This fibroblast cell line was established previously in our laboratory." (FGPTO-736) http://www.ebi.ac.uk/efo/EFO_0002712 node HP_0001482 Subcutaneous nodule Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. http://purl.obolibrary.org/obo/HP_0001482 node NCBITaxon_59201 Salmonella enterica subsp. enterica null http://purl.obolibrary.org/obo/NCBITaxon_59201 node Orphanet_3365 Trigonocephaly - broad thumbs null http://www.orpha.net/ORDO/Orphanet_3365 node EFO_0003452 obsolete_presumptive rhombomere 8 null http://www.ebi.ac.uk/efo/EFO_0003452 node Orphanet_217385 17p13.3 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_217385 node CLO_0031534 GM14480 null http://purl.obolibrary.org/obo/CLO_0031534 node Orphanet_83473 Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus null http://www.orpha.net/ORDO/Orphanet_83473 node EFO_0002348 SNU423 null http://www.ebi.ac.uk/efo/EFO_0002348 node EFO_1001192 struma ovarii null http://www.ebi.ac.uk/efo/EFO_1001192 node EFO_0003860 pancreatic neoplasm null http://www.ebi.ac.uk/efo/EFO_0003860 node HP_0001132 Lens subluxation Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis). http://purl.obolibrary.org/obo/HP_0001132 node EFO_0005583 rickets null http://www.ebi.ac.uk/efo/EFO_0005583 node MONDO_0015923 acquired peripheral neuropathy null http://purl.obolibrary.org/obo/MONDO_0015923 node EFO_1000651 recalcitrant atopic dermatitis null http://www.ebi.ac.uk/efo/EFO_1000651 node MONDO_0002033 cecum cancer null http://purl.obolibrary.org/obo/MONDO_0002033 node EFO_0009550 headache disorder null http://www.ebi.ac.uk/efo/EFO_0009550 node EFO_0005396 exome sequencing null http://www.ebi.ac.uk/efo/EFO_0005396 node EFO_0000603 BALB/cByJ null http://www.ebi.ac.uk/efo/EFO_0000603 node EFO_1000979 hypothalamic neoplasm null http://www.ebi.ac.uk/efo/EFO_1000979 node EFO_0003540 obsolete_pectoral fin musculature null http://www.ebi.ac.uk/efo/EFO_0003540 node Orphanet_157 Carnitine palmitoyltransferase II deficiency null http://www.orpha.net/ORDO/Orphanet_157 node EFO_1001280 Burkholderia Infections null http://www.ebi.ac.uk/efo/EFO_1001280 node EFO_0001408 cervical neck region null http://www.ebi.ac.uk/efo/EFO_0001408 node UBERON_0003143 pupa null http://purl.obolibrary.org/obo/UBERON_0003143 node Orphanet_93214 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation null http://www.orpha.net/ORDO/Orphanet_93214 node CHEBI_30779 succinate(1-) null http://purl.obolibrary.org/obo/CHEBI_30779 node MONDO_0004479 malignant childhood germ cell neoplasm null http://purl.obolibrary.org/obo/MONDO_0004479 node Orphanet_314889 Autosomal dominant proximal renal tubular acidosis null http://www.orpha.net/ORDO/Orphanet_314889 node EFO_0000210 obsolete_T lymphocyte null http://www.ebi.ac.uk/efo/EFO_0000210 node EFO_0005484 46C null http://www.ebi.ac.uk/efo/EFO_0005484 node Orphanet_1112 Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis null http://www.orpha.net/ORDO/Orphanet_1112 node MONDO_0002415 bone carcinoma null http://purl.obolibrary.org/obo/MONDO_0002415 node EFO_0005321 molar-incisor hypomineralization null http://www.ebi.ac.uk/efo/EFO_0005321 node MONDO_0017387 epithelioid sarcoma null http://purl.obolibrary.org/obo/MONDO_0017387 node EFO_0001015 obsolete_tuber null http://www.ebi.ac.uk/efo/EFO_0001015 node Orphanet_289902 3-methylglutaconic aciduria null http://www.orpha.net/ORDO/Orphanet_289902 node Orphanet_168558 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency null http://www.orpha.net/ORDO/Orphanet_168558 node Orphanet_99797 Anodontia null http://www.orpha.net/ORDO/Orphanet_99797 node MONDO_0023868 melanoma associated retinopathy null http://purl.obolibrary.org/obo/MONDO_0023868 node Orphanet_96325 Isochromosome Y null http://www.orpha.net/ORDO/Orphanet_96325 node Orphanet_808 Seckel syndrome null http://www.orpha.net/ORDO/Orphanet_808 node Orphanet_93604 Antenatal Bartter syndrome null http://www.orpha.net/ORDO/Orphanet_93604 node EFO_0001103 CSBwt-rescued fibroblasts null http://www.ebi.ac.uk/efo/EFO_0001103 node MONDO_0000722 non-syndromic synpolydactyly null http://purl.obolibrary.org/obo/MONDO_0000722 node Orphanet_280270 Pelizaeus-Merzbacher-like disease null http://www.orpha.net/ORDO/Orphanet_280270 node EFO_1002047 spotted fever null http://www.ebi.ac.uk/efo/EFO_1002047 node EFO_0005069 array surface coating null http://www.ebi.ac.uk/efo/EFO_0005069 node EFO_0005173 Bl-1 null http://www.ebi.ac.uk/efo/EFO_0005173 node MONDO_0032898 spermatogenic failure 43 null http://purl.obolibrary.org/obo/MONDO_0032898 node Orphanet_33067 Metaphyseal chondrodysplasia, Jansen type null http://www.orpha.net/ORDO/Orphanet_33067 node CHEBI_15929 methyl (-)-jasmonate null http://purl.obolibrary.org/obo/CHEBI_15929 node HP_0010804 Tented upper lip vermilion This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture. http://purl.obolibrary.org/obo/HP_0010804 node Orphanet_97340 Hunter-McAlpine craniosynostosis null http://www.orpha.net/ORDO/Orphanet_97340 node EFO_0004316 exploratory behavior null http://www.ebi.ac.uk/efo/EFO_0004316 node CLO_0014806 GM02767 null http://purl.obolibrary.org/obo/CLO_0014806 node EFO_0007870 response to norepinephrine-dopamine reuptake inhibitor null http://www.ebi.ac.uk/efo/EFO_0007870 node CHEBI_17230 homocysteine null http://purl.obolibrary.org/obo/CHEBI_17230 node Orphanet_3466 WT limb-blood syndrome null http://www.orpha.net/ORDO/Orphanet_3466 node EFO_0007180 bovine respiratory disease complex null http://www.ebi.ac.uk/efo/EFO_0007180 node EFO_0004129 familial amyloid neuropathy null http://www.ebi.ac.uk/efo/EFO_0004129 node MONDO_0023557 infective vaginitis null http://purl.obolibrary.org/obo/MONDO_0023557 node CL_0002107 IgD-negative CD38-positive IgG memory B cell null http://purl.obolibrary.org/obo/CL_0002107 node UBERON_2000240 metapterygoid null http://purl.obolibrary.org/obo/UBERON_2000240 node Orphanet_2110 Hallux varus - preaxial polysyndactyly null http://www.orpha.net/ORDO/Orphanet_2110 node NCBITaxon_375288 Parabacteroides null http://purl.obolibrary.org/obo/NCBITaxon_375288 node EFO_0007809 response to flupirtine null http://www.ebi.ac.uk/efo/EFO_0007809 node HP_0030878 Abnormality on pulmonary function testing null http://purl.obolibrary.org/obo/HP_0030878 node Orphanet_79299 Hyperinsulinism due to glucokinase deficiency null http://www.orpha.net/ORDO/Orphanet_79299 node Orphanet_255241 Leigh syndrome with leukodystrophy null http://www.orpha.net/ORDO/Orphanet_255241 node Orphanet_926 Acatalasemia null http://www.orpha.net/ORDO/Orphanet_926 node HP_0000539 Abnormality of refraction null http://purl.obolibrary.org/obo/HP_0000539 node EFO_0004217 obsolete_Biliary atresia null http://www.ebi.ac.uk/efo/EFO_0004217 node MONDO_0024572 immunodeficiency-related disorder null http://purl.obolibrary.org/obo/MONDO_0024572 node EFO_0007063 organism status Created that term for Atlas, as viability is not the same concept. http://www.ebi.ac.uk/efo/EFO_0007063 node Orphanet_739 Prader-Willi syndrome null http://www.orpha.net/ORDO/Orphanet_739 node Orphanet_98365 Hereditary stomatocytosis null http://www.orpha.net/ORDO/Orphanet_98365 node EFO_0006522 asymmetrical dimethylarginine measurement null http://www.ebi.ac.uk/efo/EFO_0006522 node CHEBI_85870 triacylglycerol 48:0 null http://purl.obolibrary.org/obo/CHEBI_85870 node Orphanet_36386 Hereditary sensory and autonomic neuropathy type 1 null http://www.orpha.net/ORDO/Orphanet_36386 node Orphanet_316235 Autosomal dominant spastic ataxia null http://www.orpha.net/ORDO/Orphanet_316235 node EFO_0006369 CL-34 null http://www.ebi.ac.uk/efo/EFO_0006369 node EFO_0007284 geotrichosis null http://www.ebi.ac.uk/efo/EFO_0007284 node EFO_0001461 control null http://www.ebi.ac.uk/efo/EFO_0001461 node CL_0002416 mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte null http://purl.obolibrary.org/obo/CL_0002416 node Orphanet_166093 Von Willebrand disease type 2N null http://www.orpha.net/ORDO/Orphanet_166093 node Orphanet_79387 Metabolic disease with skin involvement null http://www.orpha.net/ORDO/Orphanet_79387 node EFO_0001274 blastula 1k-cell null http://www.ebi.ac.uk/efo/EFO_0001274 node UBERON_0001772 corneal epithelium null http://purl.obolibrary.org/obo/UBERON_0001772 node Orphanet_93598 Primary hyperoxaluria type 1 null http://www.orpha.net/ORDO/Orphanet_93598 node EFO_0000690 obsolete_sarcoidosis null http://www.ebi.ac.uk/efo/EFO_0000690 node NCBITaxon_38588 Syntrichia ruralis null http://purl.obolibrary.org/obo/NCBITaxon_38588 node CHEBI_16899 D-mannitol null http://purl.obolibrary.org/obo/CHEBI_16899 node Orphanet_99956 Charcot-Marie-Tooth disease type 4B2 null http://www.orpha.net/ORDO/Orphanet_99956 node HP_0001952 Glucose intolerance null http://purl.obolibrary.org/obo/HP_0001952 node Orphanet_827 Stargardt disease null http://www.orpha.net/ORDO/Orphanet_827 node BTO_0000381 embryonic blood null http://purl.obolibrary.org/obo/BTO_0000381 node Orphanet_314597 Chudley-McCullough syndrome null http://www.orpha.net/ORDO/Orphanet_314597 node EFO_0007372 mitral valve stenosis null http://www.ebi.ac.uk/efo/EFO_0007372 node EFO_0008168 interleukin 1 receptor-like 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008168 node EFO_0008649 Aba-seq null http://www.ebi.ac.uk/efo/EFO_0008649 node MONDO_0002123 calcinosis null http://purl.obolibrary.org/obo/MONDO_0002123 node EFO_0001362 obsolete_pulmonary arterial hypertension null http://www.ebi.ac.uk/efo/EFO_0001362 node NCBITaxon_40296 Penicillium italicum null http://purl.obolibrary.org/obo/NCBITaxon_40296 node MONDO_0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy null http://purl.obolibrary.org/obo/MONDO_0008409 node EFO_0001770 loop design null http://www.ebi.ac.uk/efo/EFO_0001770 node EFO_1001806 macrophage activation syndrome null http://www.ebi.ac.uk/efo/EFO_1001806 node Orphanet_391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome null http://www.orpha.net/ORDO/Orphanet_391487 node EFO_0007460 reactive arthritis null http://www.ebi.ac.uk/efo/EFO_0007460 node MONDO_0004569 brachial plexus neuropathy from injury null http://purl.obolibrary.org/obo/MONDO_0004569 node UO_0000104 femtoliter null http://purl.obolibrary.org/obo/UO_0000104 node EFO_0003143 CLIP-seq null http://www.ebi.ac.uk/efo/EFO_0003143 node EFO_0010679 eye swelling null http://www.ebi.ac.uk/efo/EFO_0010679 node MONDO_0009601 metaphyseal dysplasia without hypotrichosis null http://purl.obolibrary.org/obo/MONDO_0009601 node PATO_0002002 has extra parts of type null http://purl.obolibrary.org/obo/PATO_0002002 node UBERON_0007610 tibial artery null http://purl.obolibrary.org/obo/UBERON_0007610 node Orphanet_98623 Syndromic keratoconus null http://www.orpha.net/ORDO/Orphanet_98623 node Orphanet_293825 Congenital dyserythropoietic anemia type IV null http://www.orpha.net/ORDO/Orphanet_293825 node Orphanet_93367 CINCA syndrome without NLRP3 mutations null http://www.orpha.net/ORDO/Orphanet_93367 node Orphanet_212 Cystathioninuria null http://www.orpha.net/ORDO/Orphanet_212 node EFO_0004796 obsolete_freckling null http://www.ebi.ac.uk/efo/EFO_0004796 node EFO_1000189 Colon Sessile Serrated Adenoma/Polyp null http://www.ebi.ac.uk/efo/EFO_1000189 node EFO_0005843 cortisol measurement null http://www.ebi.ac.uk/efo/EFO_0005843 node EFO_0010463 asymmetric dimethylarginine measurement null http://www.ebi.ac.uk/efo/EFO_0010463 node EFO_0008139 glypican-5 measurement null http://www.ebi.ac.uk/efo/EFO_0008139 node HP_0008997 Proximal muscle weakness in upper limbs null http://purl.obolibrary.org/obo/HP_0008997 node EFO_0010286 banks of the superior temporal sulcus volume measurement null http://www.ebi.ac.uk/efo/EFO_0010286 node Orphanet_94147 Spinocerebellar ataxia type 7 null http://www.orpha.net/ORDO/Orphanet_94147 node EFO_0004180 DNA selection through 5-methylcytidine antibody null http://www.ebi.ac.uk/efo/EFO_0004180 node Orphanet_1850 Renal dysplasia - megalocystis - sirenomelia null http://www.orpha.net/ORDO/Orphanet_1850 node EFO_0000290 obsolete_bladder null http://www.ebi.ac.uk/efo/EFO_0000290 node EFO_0000159 CS57890 null http://www.ebi.ac.uk/efo/EFO_0000159 node MONDO_0020575 polymorphic ventricular tachycardia null http://purl.obolibrary.org/obo/MONDO_0020575 node EFO_0003078 obsolete_yolk sac null http://www.ebi.ac.uk/efo/EFO_0003078 node Orphanet_98711 Metabolic disease with corneal opacity null http://www.orpha.net/ORDO/Orphanet_98711 node EFO_1001381 Nocturnal Paroxysmal Dystonia null http://www.ebi.ac.uk/efo/EFO_1001381 node EFO_1000454 Paranasal Sinus Adenoid Cystic Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000454 node NCBITaxon_208973 Choristoneura fumiferana MNPV null http://purl.obolibrary.org/obo/NCBITaxon_208973 node CLO_0016687 GM17790 null http://purl.obolibrary.org/obo/CLO_0016687 node NCBITaxon_391290 Geobacillus sp. E263 null http://purl.obolibrary.org/obo/NCBITaxon_391290 node Orphanet_1517 Hypertrichotic osteochondrodysplasia, Cantu type null http://www.orpha.net/ORDO/Orphanet_1517 node EFO_1000277 Gastric Small Cell Neuroendocrine Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000277 node EFO_0004884 breast size null http://www.ebi.ac.uk/efo/EFO_0004884 node EFO_0010551 xanthurenate measurement null http://www.ebi.ac.uk/efo/EFO_0010551 node NCBITaxon_8038 Salvelinus fontinalis null http://purl.obolibrary.org/obo/NCBITaxon_8038 node EFO_0005726 LNCaP clone FGC null http://www.ebi.ac.uk/efo/EFO_0005726 node Orphanet_77 Aniridia null http://www.orpha.net/ORDO/Orphanet_77 node EFO_1001194 subacute thyroiditis null http://www.ebi.ac.uk/efo/EFO_1001194 node EFO_0010374 phosphatidylcholine 32:2 measurement null http://www.ebi.ac.uk/efo/EFO_0010374 node EFO_0004697 estradiol measurement null http://www.ebi.ac.uk/efo/EFO_0004697 node UBERON_0002228 rib null http://purl.obolibrary.org/obo/UBERON_0002228 node GO_0042451 purine nucleoside biosynthetic process null http://purl.obolibrary.org/obo/GO_0042451 node EFO_0010187 end bias null http://www.ebi.ac.uk/efo/EFO_0010187 node EFO_0002138 COLO668 null http://www.ebi.ac.uk/efo/EFO_0002138 node MONDO_0060713 deafness, congenital heart defects, and posterior embryotoxon null http://purl.obolibrary.org/obo/MONDO_0060713 node EFO_0004081 DR26 null http://www.ebi.ac.uk/efo/EFO_0004081 node Orphanet_284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia null http://www.orpha.net/ORDO/Orphanet_284324 node NCBITaxon_33154 Opisthokonta null http://purl.obolibrary.org/obo/NCBITaxon_33154 node NCBITaxon_109174 Haliotis asinina null http://purl.obolibrary.org/obo/NCBITaxon_109174 node EFO_1001282 Candidemia null http://www.ebi.ac.uk/efo/EFO_1001282 node PO_0007029 whole plant fruit formation stage 30 to 50% This terms is best used for plant with more or less synchronous fruit development and can only be used of the final size of the fruit is known. This stage is to be used for the development stage of a whole plant (PO:0000003). For an individual fruit, use fruit size 30 to 50% stage (PO:0025506). http://purl.obolibrary.org/obo/PO_0007029 node HP_0002171 Gliosis Gliosis generally occurs as a response to tissue damage. Gliosis appears bright on T2 scans upon magnetic resonance imaging, unlike encephalomalacia which follows CSF signal on all sequences. Glial cells, the non-neuronal component of the central nervous system, are divided into microglia and macroglia. The latter are in turn divided into astrocytes, oligodendrocytes, and ependymal cells. The astrocytes and the microglia are the glial cells predominantly responsible for tissue response to injury. http://purl.obolibrary.org/obo/HP_0002171 node HP_0002652 Skeletal dysplasia The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. http://purl.obolibrary.org/obo/HP_0002652 node MONDO_0017166 rare tumor of salivary glands null http://purl.obolibrary.org/obo/MONDO_0017166 node CLO_0014029 GM17178 null http://purl.obolibrary.org/obo/CLO_0014029 node UBERON_0000966 retina Currently this class encompasses only verteberate AOs but could in theory also include cephalopod - we may want to make a more specific class for vertebrate retina. note that this class excludes ommatidial retinas, as the retina must be part of an eyeball. Use the parent class photoreceptor array / light-sensitive tissue for arthropods http://purl.obolibrary.org/obo/UBERON_0000966 node HP_0002465 Poor speech null http://purl.obolibrary.org/obo/HP_0002465 node MONDO_0018491 3-phosphoglycerate dehydrogenase deficiency null http://purl.obolibrary.org/obo/MONDO_0018491 node Orphanet_2063 Splenogonadal fusion - limb defects - micrognathia null http://www.orpha.net/ORDO/Orphanet_2063 node Orphanet_183598 Rare genetic palpebral, lacrimal system and conjunctival disease null http://www.orpha.net/ORDO/Orphanet_183598 node EFO_0002039 67NR null http://www.ebi.ac.uk/efo/EFO_0002039 node MONDO_0022394 cervical intraepithelial neoplasia null http://purl.obolibrary.org/obo/MONDO_0022394 node EFO_0006956 intraocular pressure change measurement null http://www.ebi.ac.uk/efo/EFO_0006956 node NCBITaxon_2337 Thermotoga neapolitana null http://purl.obolibrary.org/obo/NCBITaxon_2337 node Orphanet_309192 Tay-Sachs disease, B variant, adult form null http://www.orpha.net/ORDO/Orphanet_309192 node HP_0012440 Abnormal biliary tract morphology null http://purl.obolibrary.org/obo/HP_0012440 node EFO_0006340 mean arterial pressure null http://www.ebi.ac.uk/efo/EFO_0006340 node HP_0007565 Multiple cafe-au-lait spots null http://purl.obolibrary.org/obo/HP_0007565 node Orphanet_169189 Autosomal dominant centronuclear myopathy null http://www.orpha.net/ORDO/Orphanet_169189 node EFO_0004025 AA86 null http://www.ebi.ac.uk/efo/EFO_0004025 node EFO_0009765 alanine measurement null http://www.ebi.ac.uk/efo/EFO_0009765 node CHEBI_17929 asymmetric dimethylarginine null http://purl.obolibrary.org/obo/CHEBI_17929 node EFO_0006459 OV7 null http://www.ebi.ac.uk/efo/EFO_0006459 node MONDO_0016700 anaplastic ependymoma null http://purl.obolibrary.org/obo/MONDO_0016700 node Orphanet_79477 Griscelli disease type 2 null http://www.orpha.net/ORDO/Orphanet_79477 node MONDO_0002691 liver cancer null http://purl.obolibrary.org/obo/MONDO_0002691 node HP_0008419 Intervertebral disc degeneration null http://purl.obolibrary.org/obo/HP_0008419 node CHEBI_32509 pirinixic acid null http://purl.obolibrary.org/obo/CHEBI_32509 node Orphanet_262173 Partial deletion of the long arm of chromosome 21 null http://www.orpha.net/ORDO/Orphanet_262173 node NCBITaxon_224308 Bacillus subtilis subsp. subtilis str. 168 null http://purl.obolibrary.org/obo/NCBITaxon_224308 node Orphanet_77297 Majeed syndrome null http://www.orpha.net/ORDO/Orphanet_77297 node Orphanet_251066 8p11.2 deletion syndrome null http://www.orpha.net/ORDO/Orphanet_251066 node Orphanet_66637 Diaphanospondylodysostosis null http://www.orpha.net/ORDO/Orphanet_66637 node Orphanet_3269 Radio-ulnar synostosis null http://www.orpha.net/ORDO/Orphanet_3269 node MONDO_0000530 rectum adenoma null http://purl.obolibrary.org/obo/MONDO_0000530 node Orphanet_325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency null http://www.orpha.net/ORDO/Orphanet_325524 node EFO_0009853 convulsion null http://www.ebi.ac.uk/efo/EFO_0009853 node Orphanet_98793 Prader-Willi syndrome due to paternal 15q11q13 deletion null http://www.orpha.net/ORDO/Orphanet_98793 node EFO_0006927 severe aplastic anemia null http://www.ebi.ac.uk/efo/EFO_0006927 node EFO_0009666 enthesopathy null http://www.ebi.ac.uk/efo/EFO_0009666 node MONDO_0000812 vertebral column disease null http://purl.obolibrary.org/obo/MONDO_0000812 node CHEBI_29746 glycocholate null http://purl.obolibrary.org/obo/CHEBI_29746 node CHEBI_64151 imetit dihydrobromide null http://purl.obolibrary.org/obo/CHEBI_64151 node EFO_0007872 caffeine metabolite measurement null http://www.ebi.ac.uk/efo/EFO_0007872 node Orphanet_42738 Severe congenital neutropenia null http://www.orpha.net/ORDO/Orphanet_42738 node MONDO_0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome null http://purl.obolibrary.org/obo/MONDO_0030065 node EFO_0009454 gastric ulcer null http://www.ebi.ac.uk/efo/EFO_0009454 node MONDO_0100130 adult acute respiratory distress syndrome null http://purl.obolibrary.org/obo/MONDO_0100130 node EFO_0008505 hepatitis virus-related hepatocellular carcinoma null http://www.ebi.ac.uk/efo/EFO_0008505 node NCBITaxon_502779 Paracoccidioides brasiliensis Pb01 null http://purl.obolibrary.org/obo/NCBITaxon_502779 node MONDO_0013499 Fanconi anemia complementation group P null http://purl.obolibrary.org/obo/MONDO_0013499 node Orphanet_1997 Blepharo-cheilo-odontic syndrome null http://www.orpha.net/ORDO/Orphanet_1997 node EFO_0008913 scRNA-seq null http://www.ebi.ac.uk/efo/EFO_0008913 node Orphanet_352403 Spectrin-associated autosomal recessive cerebellar ataxia null http://www.orpha.net/ORDO/Orphanet_352403 node PO_0025075 phyllid null http://purl.obolibrary.org/obo/PO_0025075 node Orphanet_371064 Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature null http://www.orpha.net/ORDO/Orphanet_371064 node Orphanet_99647 Cheirospondyloenchondromatosis null http://www.orpha.net/ORDO/Orphanet_99647 node Orphanet_93950 X-linked intellectual disability, Sutherland-Haan type null http://www.orpha.net/ORDO/Orphanet_93950 node EFO_0008726 dsRNA-Seq null http://www.ebi.ac.uk/efo/EFO_0008726 node Orphanet_251375 Sickle cell - hemoglobin E disease null http://www.orpha.net/ORDO/Orphanet_251375 node MONDO_0000254 cutaneous mycosis null http://purl.obolibrary.org/obo/MONDO_0000254 node EFO_1000162 Cervical Adenosquamous Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000162 node EFO_1000643 infantile epileptic encephalopathy null http://www.ebi.ac.uk/efo/EFO_1000643 node EFO_0010698 retinal break null http://www.ebi.ac.uk/efo/EFO_0010698 node GO_0010960 magnesium ion homeostasis null http://purl.obolibrary.org/obo/GO_0010960 node EFO_0003665 obsolete_caudal vein plexus null http://www.ebi.ac.uk/efo/EFO_0003665 node EFO_0009542 disorder of appendix null http://www.ebi.ac.uk/efo/EFO_0009542 node EFO_1000456 Parathyroid Gland Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000456 node EFO_0007008 allergy measurement null http://www.ebi.ac.uk/efo/EFO_0007008 node EFO_0009355 Anti-measles virus IgG measurement null http://www.ebi.ac.uk/efo/EFO_0009355 node EFO_1000864 cholecystolithiasis null http://www.ebi.ac.uk/efo/EFO_1000864 node EFO_0008814 MIPSTR null http://www.ebi.ac.uk/efo/EFO_0008814 node NCBITaxon_45218 Amapari virus null http://purl.obolibrary.org/obo/NCBITaxon_45218 node EFO_1000250 Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor null http://www.ebi.ac.uk/efo/EFO_1000250 node CHEBI_48416 olmesartan null http://purl.obolibrary.org/obo/CHEBI_48416 node Orphanet_280365 Autosomal codominant severe lipodystrophic laminopathy null http://www.orpha.net/ORDO/Orphanet_280365 node MONDO_0030036 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome null http://purl.obolibrary.org/obo/MONDO_0030036 node EFO_0003753 Bisulfite-seq null http://www.ebi.ac.uk/efo/EFO_0003753 node EFO_0000629 observational design null http://www.ebi.ac.uk/efo/EFO_0000629 node CHEBI_9407 taurochenodeoxycholate null http://purl.obolibrary.org/obo/CHEBI_9407 node Orphanet_365 Glycogen storage disease due to acid maltase deficiency null http://www.orpha.net/ORDO/Orphanet_365 node Orphanet_93459 Syndrome with synostosis or other joint formation defect null http://www.orpha.net/ORDO/Orphanet_93459 node EFO_1000544 Spinal Cord Astrocytoma null http://www.ebi.ac.uk/efo/EFO_1000544 node UBERON_0002407 pericardium null http://purl.obolibrary.org/obo/UBERON_0002407 node HP_0003521 Disproportionate short-trunk short stature null http://purl.obolibrary.org/obo/HP_0003521 node NCBITaxon_226185 Enterococcus faecalis V583 null http://purl.obolibrary.org/obo/NCBITaxon_226185 node Orphanet_3316 Thomas syndrome null http://www.orpha.net/ORDO/Orphanet_3316 node EFO_1000952 glycogen storage disease VIII null http://www.ebi.ac.uk/efo/EFO_1000952 node NCBITaxon_8128 Oreochromis niloticus null http://purl.obolibrary.org/obo/NCBITaxon_8128 node MONDO_0024334 peripheral nerve lesion null http://purl.obolibrary.org/obo/MONDO_0024334 node CL_0002042 immature NK T cell stage IV null http://purl.obolibrary.org/obo/CL_0002042 node EFO_0008421 non-alcoholic fatty liver disease severity measurement null http://www.ebi.ac.uk/efo/EFO_0008421 node MONDO_0032940 retinitis pigmentosa 88 null http://purl.obolibrary.org/obo/MONDO_0032940 node EFO_0001007 obsolete_phyllid_v2 null http://www.ebi.ac.uk/efo/EFO_0001007 node MONDO_0002300 dermis tumor null http://purl.obolibrary.org/obo/MONDO_0002300 node UBERON_0002198 neurohypophysis null http://purl.obolibrary.org/obo/UBERON_0002198 node Orphanet_2318 Joubert syndrome with oculorenal defect null http://www.orpha.net/ORDO/Orphanet_2318 node EFO_0000423 dorsal prothoracic pharyngeal muscle null http://www.ebi.ac.uk/efo/EFO_0000423 node UO_0000018 nanometer null http://purl.obolibrary.org/obo/UO_0000018 node EFO_1001104 phimosis null http://www.ebi.ac.uk/efo/EFO_1001104 node Orphanet_137667 Capillary malformation - arteriovenous malformation null http://www.orpha.net/ORDO/Orphanet_137667 node MONDO_0015855 isolated congenital breast hypoplasia/aplasia null http://purl.obolibrary.org/obo/MONDO_0015855 node EFO_0005534 delayed encephalopathy after acute carbon monoxide poisoning null http://www.ebi.ac.uk/efo/EFO_0005534 node EFO_0004607 duodenal ulcer null http://www.ebi.ac.uk/efo/EFO_0004607 node EFO_0000717 systemic scleroderma null http://www.ebi.ac.uk/efo/EFO_0000717 node CLO_0016951 GM07348 null http://purl.obolibrary.org/obo/CLO_0016951 node EFO_0002813 ABC-1 null http://www.ebi.ac.uk/efo/EFO_0002813 node EFO_0003636 obsolete_pharyngeal pouch 5 null http://www.ebi.ac.uk/efo/EFO_0003636 node Orphanet_93547 Syndromic renal or urinary tract malformation null http://www.orpha.net/ORDO/Orphanet_93547 node HP_0000474 Thickened nuchal skin fold A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org). http://purl.obolibrary.org/obo/HP_0000474 node EFO_0008022 angiogenin measurement null http://www.ebi.ac.uk/efo/EFO_0008022 node Orphanet_3404 Ulbright-Hodes syndrome null http://www.orpha.net/ORDO/Orphanet_3404 node ZFA_0000281 hair cell posterior macula null http://purl.obolibrary.org/obo/ZFA_0000281 node EFO_1000835 benign fibrous mesothelioma Editor note: consider merging into MONDO:0021041 http://www.ebi.ac.uk/efo/EFO_1000835 node EFO_0003857 arthrogryposis null http://www.ebi.ac.uk/efo/EFO_0003857 node CL_0000993 mature CD11c-low plasmacytoid dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000007)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0000993 node EFO_0000511 genetic trait null http://www.ebi.ac.uk/efo/EFO_0000511 node EFO_0010932 urokinase plasminogen activator surface receptor measurement null http://www.ebi.ac.uk/efo/EFO_0010932 node HP_0011923 Decreased activity of mitochondrial complex I null http://purl.obolibrary.org/obo/HP_0011923 node HP_0001537 Umbilical hernia null http://purl.obolibrary.org/obo/HP_0001537 node CL_0000830 basophilic promyelocyte null http://purl.obolibrary.org/obo/CL_0000830 node EFO_0004575 e-selectin measurement null http://www.ebi.ac.uk/efo/EFO_0004575 node EFO_0000324 cell type null http://www.ebi.ac.uk/efo/EFO_0000324 node EFO_0005622 Crohn's colitis null http://www.ebi.ac.uk/efo/EFO_0005622 node EFO_0002901 micromole per liter null http://www.ebi.ac.uk/efo/EFO_0002901 node EFO_0000805 obsolete_sensory system null http://www.ebi.ac.uk/efo/EFO_0000805 node EFO_1001005 Klatskin's tumor null http://www.ebi.ac.uk/efo/EFO_1001005 node EFO_0005435 array control empty null http://www.ebi.ac.uk/efo/EFO_0005435 node EFO_0002714 Panc89 null http://www.ebi.ac.uk/efo/EFO_0002714 node EFO_0008110 Dickkopf-related protein 4 measurement null http://www.ebi.ac.uk/efo/EFO_0008110 node MONDO_0022965 desmoplastic infantile ganglioglioma null http://purl.obolibrary.org/obo/MONDO_0022965 node Orphanet_96098 Distal trisomy 6q null http://www.orpha.net/ORDO/Orphanet_96098 node EFO_0003945 obsolete_menorrhagia null http://www.ebi.ac.uk/efo/EFO_0003945 node EFO_0006791 vascular brain injury null http://www.ebi.ac.uk/efo/EFO_0006791 node MONDO_0054636 Skraban-Deardorff syndrome null http://purl.obolibrary.org/obo/MONDO_0054636 node HP_0100578 Lipoatrophy This may occur as a result of subcutanous injections of insulin in the treatment of diabetes, from the use of human growth hormone or from subcutanous injections of Copaxone used for the treatment of multiple sclerosis. In the latter case, an injection may produce a small dent at the injection site. Lipoatrophy is also an adverse drug reaction that is associated with some antiretroviral drugs. http://purl.obolibrary.org/obo/HP_0100578 node EFO_0007587 Oryza sativa cv. Nipponbare Improvement of the Oryza sativa Nipponbare reference genome using next generation sequence and optical map data Yoshihiro Kawahara, Melissa de la Bastide, John P Hamilton, Hiroyuki Kanamori, W Richard McCombie, Shu Ouyang, David C Schwartz, Tsuyoshi Tanaka, Jianzhong Wu, Shiguo Zhou, Kevin L Childs, Rebecca M Davidson, Haining Lin, Lina Quesada-Ocampo, Brieanne Vaillancourt, Hiroaki Sakai, Sung Shin Lee, Jungsok Kim, Hisataka Numa, Takeshi ItohEmail author, C Robin Buell and Takashi Matsumoto Rice20136:4 DOI: 10.1186/1939-8433-6-4 © Kawahara et al.; licensee Springer. 2013 Received: 6 November 2012 Accepted: 30 January 2013 Published: 6 February 2013 http://www.ebi.ac.uk/efo/EFO_0007587 node MONDO_0004037 retinal edema null http://purl.obolibrary.org/obo/MONDO_0004037 node EFO_0000292 bladder carcinoma null http://www.ebi.ac.uk/efo/EFO_0000292 node NCBITaxon_169388 Fusarium solani null http://purl.obolibrary.org/obo/NCBITaxon_169388 node NCBITaxon_63400 Arthroderma benhamiae null http://purl.obolibrary.org/obo/NCBITaxon_63400 node Orphanet_77299 Microphthalmia - brain atrophy null http://www.orpha.net/ORDO/Orphanet_77299 node EFO_1002020 polyarticular juvenile idiopathic arthritis, rheumatoid factor negative null http://www.ebi.ac.uk/efo/EFO_1002020 node Orphanet_314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency null http://www.orpha.net/ORDO/Orphanet_314376 node Orphanet_183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency null http://www.orpha.net/ORDO/Orphanet_183675 node PO_0009073 stigma null http://purl.obolibrary.org/obo/PO_0009073 node GO_0030284 estrogen receptor activity null http://purl.obolibrary.org/obo/GO_0030284 node NCBITaxon_5741 Giardia intestinalis null http://purl.obolibrary.org/obo/NCBITaxon_5741 node Orphanet_86789 Patella aplasia/hypoplasia null http://www.orpha.net/ORDO/Orphanet_86789 node EFO_0007675 metastasis measurement null http://www.ebi.ac.uk/efo/EFO_0007675 node MONDO_0024969 parasitic disease, non-human animal null http://purl.obolibrary.org/obo/MONDO_0024969 node HP_0030236 Abnormality of muscle size null http://purl.obolibrary.org/obo/HP_0030236 node EFO_0007488 sparganosis null http://www.ebi.ac.uk/efo/EFO_0007488 node Orphanet_309845 Disorder of zinc metabolism null http://www.orpha.net/ORDO/Orphanet_309845 node Orphanet_261102 Distal 7q11.23 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_261102 node PATO_0001421 alive null http://purl.obolibrary.org/obo/PATO_0001421 node Orphanet_183763 Rare genetic intellectual disability with developmental anomaly null http://www.orpha.net/ORDO/Orphanet_183763 node MONDO_0021632 primary brain neoplasm null http://purl.obolibrary.org/obo/MONDO_0021632 node CL_0002359 placental hematopoietic stem cell null http://purl.obolibrary.org/obo/CL_0002359 node EFO_0005909 HGADFN167 null http://www.ebi.ac.uk/efo/EFO_0005909 node HP_0007256 Abnormal pyramidal sign Presence of these signs can indicate affection of the corticospinal (pyramidal) tracts. http://purl.obolibrary.org/obo/HP_0007256 node MONDO_0001161 schizoid personality disorder null http://purl.obolibrary.org/obo/MONDO_0001161 node NCBITaxon_55887 Rhabditinae null http://purl.obolibrary.org/obo/NCBITaxon_55887 node EFO_0006735 PK-45P null http://www.ebi.ac.uk/efo/EFO_0006735 node Orphanet_98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder null http://www.orpha.net/ORDO/Orphanet_98396 node EFO_0006548 CaR-1 null http://www.ebi.ac.uk/efo/EFO_0006548 node MONDO_0010920 microtia null http://purl.obolibrary.org/obo/MONDO_0010920 node CL_0002447 CD94-negative natural killer cell, mouse null http://purl.obolibrary.org/obo/CL_0002447 node Orphanet_206701 Bulbospinal muscular atrophy null http://www.orpha.net/ORDO/Orphanet_206701 node EFO_0010065 response to intravenous immunoglobulin therapy null http://www.ebi.ac.uk/efo/EFO_0010065 node EFO_0004518 creatinine measurement null http://www.ebi.ac.uk/efo/EFO_0004518 node EFO_0008291 stem Cell Factor measurement null http://www.ebi.ac.uk/efo/EFO_0008291 node NCBITaxon_837 Porphyromonas gingivalis null http://purl.obolibrary.org/obo/NCBITaxon_837 node EFO_0007364 meningoencephalitis null http://www.ebi.ac.uk/efo/EFO_0007364 node HP_0003049 Ulnar deviation of the wrist null http://purl.obolibrary.org/obo/HP_0003049 node CHEBI_18154 polysaccharide null http://purl.obolibrary.org/obo/CHEBI_18154 node MONDO_0045069 minor salivary gland carcinoma null http://purl.obolibrary.org/obo/MONDO_0045069 node EFO_1001309 Encephalitis, Tick-Borne null http://www.ebi.ac.uk/efo/EFO_1001309 node EFO_0006342 aggressive periodontitis null http://www.ebi.ac.uk/efo/EFO_0006342 node EFO_0007177 border disease null http://www.ebi.ac.uk/efo/EFO_0007177 node Orphanet_320391 Autosomal recessive spastic paraplegia type 46 null http://www.orpha.net/ORDO/Orphanet_320391 node Orphanet_1452 Cleidocranial dysplasia null http://www.orpha.net/ORDO/Orphanet_1452 node Orphanet_79360 Other genetic epidermal disease Editor note: consider merging http://www.orpha.net/ORDO/Orphanet_79360 node EFO_0006636 LN-18 null http://www.ebi.ac.uk/efo/EFO_0006636 node NCBITaxon_28610 Rhagoletis pomonella null http://purl.obolibrary.org/obo/NCBITaxon_28610 node CHEBI_22653 asparagine null http://purl.obolibrary.org/obo/CHEBI_22653 node EFO_0008971 TIVA null http://www.ebi.ac.uk/efo/EFO_0008971 node EFO_0000991 seed structure null http://www.ebi.ac.uk/efo/EFO_0000991 node MONDO_0009544 macrocephaly/megalencephaly syndrome, autosomal recessive null http://purl.obolibrary.org/obo/MONDO_0009544 node EFO_0006430 HCC2270 null http://www.ebi.ac.uk/efo/EFO_0006430 node EFO_0008192 interleukin 9 measurement null http://www.ebi.ac.uk/efo/EFO_0008192 node EFO_0007265 eumycotic mycetoma null http://www.ebi.ac.uk/efo/EFO_0007265 node Orphanet_79243 Pyruvate dehydrogenase E1-alpha deficiency null http://www.orpha.net/ORDO/Orphanet_79243 node CHEBI_50385 hemin null http://purl.obolibrary.org/obo/CHEBI_50385 node UBERON_0007808 adipose tissue of abdominal region null http://purl.obolibrary.org/obo/UBERON_0007808 node Orphanet_99812 LIG4 syndrome null http://www.orpha.net/ORDO/Orphanet_99812 node Orphanet_98970 Fleck corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98970 node MONDO_0001377 vitreous syneresis Editor note: TODO consider cede to HPO http://purl.obolibrary.org/obo/MONDO_0001377 node Orphanet_181425 Major hypertriglyceridemia null http://www.orpha.net/ORDO/Orphanet_181425 node EFO_0003356 obsolete_head mesoderm anlage null http://www.ebi.ac.uk/efo/EFO_0003356 node EFO_0002385 UACC893 null http://www.ebi.ac.uk/efo/EFO_0002385 node EFO_0001458 protein assay null http://www.ebi.ac.uk/efo/EFO_0001458 node EFO_0006408 G44 null http://www.ebi.ac.uk/efo/EFO_0006408 node EFO_0000874 obsolete_antenna null http://www.ebi.ac.uk/efo/EFO_0000874 node MONDO_0014806 spinal muscular atrophy with congenital bone fractures 1 null http://purl.obolibrary.org/obo/MONDO_0014806 node EFO_0009046 Fanconi anemia complementation group G null http://www.ebi.ac.uk/efo/EFO_0009046 node Orphanet_29072 Hereditary pheochromocytoma-paraganglioma null http://www.orpha.net/ORDO/Orphanet_29072 node EFO_0009456 exfoliative dermatitis null http://www.ebi.ac.uk/efo/EFO_0009456 node EFO_0009269 ADAMTS13 measurement null http://www.ebi.ac.uk/efo/EFO_0009269 node Orphanet_93298 Achondrogenesis type 1B null http://www.orpha.net/ORDO/Orphanet_93298 node EFO_0003444 obsolete_presumptive shield null http://www.ebi.ac.uk/efo/EFO_0003444 node Orphanet_2879 Phocomelia, Schinzel type null http://www.orpha.net/ORDO/Orphanet_2879 node CL_0001015 CD8_alpha-low Langerhans cell These markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000027)(PMID:19243617). They are also CD205-high, CD281-positive (TLR1), CD282-positive (TLR2), CD283-positive (TLR3), CD285-positive (TLR5), CD286-positive (TLR6), and CD289-positive (TLR9). http://purl.obolibrary.org/obo/CL_0001015 node NCBITaxon_121558 Senecio vulgaris subsp. vulgaris null http://purl.obolibrary.org/obo/NCBITaxon_121558 node Orphanet_1383 Cataract - deafness - hypogonadism null http://www.orpha.net/ORDO/Orphanet_1383 node Orphanet_391343 Fatal post-viral neurodegenerative disorder null http://www.orpha.net/ORDO/Orphanet_391343 node MONDO_0020122 idiopathic inflammatory myopathy null http://purl.obolibrary.org/obo/MONDO_0020122 node NCBITaxon_169963 Listeria monocytogenes EGD-e null http://purl.obolibrary.org/obo/NCBITaxon_169963 node EFO_0009134 trimethyllysine measurement null http://www.ebi.ac.uk/efo/EFO_0009134 node EFO_0002871 WB-F344 null http://www.ebi.ac.uk/efo/EFO_0002871 node Orphanet_530 Lipoid proteinosis null http://www.orpha.net/ORDO/Orphanet_530 node EFO_0007821 hair morphology measurement null http://www.ebi.ac.uk/efo/EFO_0007821 node UBERON_0002094 interventricular septum null http://purl.obolibrary.org/obo/UBERON_0002094 node Orphanet_139525 Distal hereditary motor neuropathy type 2 null http://www.orpha.net/ORDO/Orphanet_139525 node EFO_0001767 hardware variation design null http://www.ebi.ac.uk/efo/EFO_0001767 node Orphanet_231556 Late-onset localized junctional epidermolysis bullosa - intellectual disability null http://www.orpha.net/ORDO/Orphanet_231556 node CHEBI_4877 ethambutol null http://purl.obolibrary.org/obo/CHEBI_4877 node MONDO_0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade Editor note: TODO apply G1/G2 pattern http://purl.obolibrary.org/obo/MONDO_0015065 node EFO_1001888 eye infection null http://www.ebi.ac.uk/efo/EFO_1001888 node EFO_0009357 Anti-rubella virus IgG measurement null http://www.ebi.ac.uk/efo/EFO_0009357 node UBERON_0004742 dentary null http://purl.obolibrary.org/obo/UBERON_0004742 node Orphanet_1946 Amelo-cerebro-hypohidrotic syndrome null http://www.orpha.net/ORDO/Orphanet_1946 node Orphanet_238654 Congenital primary megaureter, nonrefluxing and unobstructed form null http://www.orpha.net/ORDO/Orphanet_238654 node EFO_0004294 left atrial function null http://www.ebi.ac.uk/efo/EFO_0004294 node UBERON_0001154 vermiform appendix null http://purl.obolibrary.org/obo/UBERON_0001154 node EFO_1001495 small artery occlusion null http://www.ebi.ac.uk/efo/EFO_1001495 node EFO_1001976 cardioembolic stroke null http://www.ebi.ac.uk/efo/EFO_1001976 node EFO_0004998 carbohydrate measurement null http://www.ebi.ac.uk/efo/EFO_0004998 node Orphanet_209 Cutis laxa null http://www.orpha.net/ORDO/Orphanet_209 node MONDO_0003805 malignant pericardial mesothelioma null http://purl.obolibrary.org/obo/MONDO_0003805 node EFO_1000405 Ocular Sebaceous Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000405 node EFO_1000228 EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood null http://www.ebi.ac.uk/efo/EFO_1000228 node Orphanet_93311 Multiple epiphyseal dysplasia type 5 null http://www.orpha.net/ORDO/Orphanet_93311 node MONDO_0004800 chronic dacryoadenitis null http://purl.obolibrary.org/obo/MONDO_0004800 node NCIT_C117245 decreased attention null http://purl.obolibrary.org/obo/NCIT_C117245 node EFO_1001378 neurogenic arthropathy null http://www.ebi.ac.uk/efo/EFO_1001378 node NCBITaxon_51351 Brassica rapa subsp. pekinensis null http://purl.obolibrary.org/obo/NCBITaxon_51351 node EFO_1000012 Rienhoff syndrome null http://www.ebi.ac.uk/efo/EFO_1000012 node Orphanet_261600 Alagille syndrome due to 20p12 microdeletion null http://www.orpha.net/ORDO/Orphanet_261600 node MONDO_0054801 erythrocytosis, familial, 6 null http://purl.obolibrary.org/obo/MONDO_0054801 node EFO_0002012 organization role null http://www.ebi.ac.uk/efo/EFO_0002012 node EFO_1000316 Krukenberg Tumor null http://www.ebi.ac.uk/efo/EFO_1000316 node NCBITaxon_4072 Capsicum annuum null http://purl.obolibrary.org/obo/NCBITaxon_4072 node NCBITaxon_153939 uncultured sulfate-reducing bacterium null http://purl.obolibrary.org/obo/NCBITaxon_153939 node EFO_0005590 steroid inherited metabolic disorder null http://www.ebi.ac.uk/efo/EFO_0005590 node EFO_1000100 Atypical Lobular Breast Hyperplasia null http://www.ebi.ac.uk/efo/EFO_1000100 node NCBITaxon_99287 Salmonella enterica subsp. enterica serovar Typhimurium str. LT2 null http://purl.obolibrary.org/obo/NCBITaxon_99287 node EFO_0006888 vascular malformation null http://www.ebi.ac.uk/efo/EFO_0006888 node CHEBI_9566 thioridazine null http://purl.obolibrary.org/obo/CHEBI_9566 node EFO_0010740 Diets-Jongmans syndrome null http://www.ebi.ac.uk/efo/EFO_0010740 node HP_0010609 Skin tags null http://purl.obolibrary.org/obo/HP_0010609 node Orphanet_183454 Genetic nail anomaly null http://www.orpha.net/ORDO/Orphanet_183454 node EFO_0002100 A101D null http://www.ebi.ac.uk/efo/EFO_0002100 node EFO_0006793 left inferior lateral ventricle volume measurement null http://www.ebi.ac.uk/efo/EFO_0006793 node MONDO_0018675 IgG4-related ophthalmic disease null http://purl.obolibrary.org/obo/MONDO_0018675 node MONDO_0018488 rare genetic odontal or periodontal disorder May be obsoleted. The semantics of the ORDO class are not clear http://purl.obolibrary.org/obo/MONDO_0018488 node Orphanet_2102 GTP cyclohydrolase I deficiency null http://www.orpha.net/ORDO/Orphanet_2102 node Orphanet_101972 Combined T and B cell immunodeficiency null http://www.orpha.net/ORDO/Orphanet_101972 node Orphanet_199310 Tetragametic chimerism null http://www.orpha.net/ORDO/Orphanet_199310 node EFO_0000015 CS57560 null http://www.ebi.ac.uk/efo/EFO_0000015 node EFO_0005313 picomole per microliter null http://www.ebi.ac.uk/efo/EFO_0005313 node EFO_0010641 3-ureidopropionate measurement null http://www.ebi.ac.uk/efo/EFO_0010641 node Orphanet_98561 Eyelid malformation null http://www.orpha.net/ORDO/Orphanet_98561 node PO_0006036 root epidermis The root epidermis is different from the shoot epidermis in its origin, function and structure. http://purl.obolibrary.org/obo/PO_0006036 node EFO_0005126 arylesterase enzyme measurement null http://www.ebi.ac.uk/efo/EFO_0005126 node UBERON_0002240 spinal cord null http://purl.obolibrary.org/obo/UBERON_0002240 node CHEBI_50855 antiatherogenic agent null http://purl.obolibrary.org/obo/CHEBI_50855 node MONDO_0002875 parasitic ectoparasitic infectious disease null http://purl.obolibrary.org/obo/MONDO_0002875 node Orphanet_2973 46,XX disorder of sex development - anorectal anomalies null http://www.orpha.net/ORDO/Orphanet_2973 node EFO_0008757 gSELEX-Seq null http://www.ebi.ac.uk/efo/EFO_0008757 node EFO_0010230 phosphatidylinositol measurement null http://www.ebi.ac.uk/efo/EFO_0010230 node Orphanet_228418 Microcephaly - seizures - developmental delay null http://www.orpha.net/ORDO/Orphanet_228418 node EFO_0001956 obsolete_interventricular septum null http://www.ebi.ac.uk/efo/EFO_0001956 node EFO_0000103 obsolete_Becker's muscular dystrophy null http://www.ebi.ac.uk/efo/EFO_0000103 node GO_0009199 ribonucleoside triphosphate metabolic process null http://purl.obolibrary.org/obo/GO_0009199 node EFO_0001266 obsolete_male null http://www.ebi.ac.uk/efo/EFO_0001266 node EFO_0005214 neuroblastoma cell line null http://www.ebi.ac.uk/efo/EFO_0005214 node PO_0007041 inflorescence emergence stage null http://purl.obolibrary.org/obo/PO_0007041 node FBbt_00016016 larval midline neuron null http://purl.obolibrary.org/obo/FBbt_00016016 node MONDO_0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly null http://purl.obolibrary.org/obo/MONDO_0032939 node MONDO_0002243 hemorrhagic disease null http://purl.obolibrary.org/obo/MONDO_0002243 node EFO_0001740 software manufacturer null http://www.ebi.ac.uk/efo/EFO_0001740 node EFO_0008845 PAR-CLIP null http://www.ebi.ac.uk/efo/EFO_0008845 node HP_0001094 Iridocyclitis null http://purl.obolibrary.org/obo/HP_0001094 node EFO_0008658 BrdU-CLIP null http://www.ebi.ac.uk/efo/EFO_0008658 node EFO_0007179 boutonneuse fever null http://www.ebi.ac.uk/efo/EFO_0007179 node GO_0003674 molecular function null http://purl.obolibrary.org/obo/GO_0003674 node Orphanet_483 Congenital high-molecular-weight kininogen deficiency null http://www.orpha.net/ORDO/Orphanet_483 node MONDO_0002289 iris disease null http://purl.obolibrary.org/obo/MONDO_0002289 node Orphanet_296 Enchondromatosis null http://www.orpha.net/ORDO/Orphanet_296 node Orphanet_325713 Genetic 46,XY disorder of sex development of endocrine origin null http://www.orpha.net/ORDO/Orphanet_325713 node MONDO_0002331 nephrosis null http://purl.obolibrary.org/obo/MONDO_0002331 node EFO_1000796 adrenal cortex carcinoma null http://www.ebi.ac.uk/efo/EFO_1000796 node HP_0001182 Tapered finger null http://purl.obolibrary.org/obo/HP_0001182 node EFO_0003849 palatal neoplasm null http://www.ebi.ac.uk/efo/EFO_0003849 node EFO_1000159 Cerebellar Liponeurocytoma null http://www.ebi.ac.uk/efo/EFO_1000159 node EFO_0007267 obsolete_factor VIII deficiency null http://www.ebi.ac.uk/efo/EFO_0007267 node UBERON_0002171 lower lobe of right lung null http://purl.obolibrary.org/obo/UBERON_0002171 node EFO_0008053 C-C motif chemokine 5 measurement null http://www.ebi.ac.uk/efo/EFO_0008053 node Orphanet_86813 Helicoid peripapillary chorioretinal degeneration null http://www.orpha.net/ORDO/Orphanet_86813 node Orphanet_384 Palmoplantar keratoderma-sclerodactyly syndrome null http://www.orpha.net/ORDO/Orphanet_384 node Orphanet_98428 Secondary polycythemia null http://www.orpha.net/ORDO/Orphanet_98428 node MONDO_0013730 graft versus host disease null http://purl.obolibrary.org/obo/MONDO_0013730 node EFO_0007512 tinea pedis null http://www.ebi.ac.uk/efo/EFO_0007512 node HP_0031652 Abnormal aortic valve physiology null http://purl.obolibrary.org/obo/HP_0031652 node CHEBI_90344 N-methylproline null http://purl.obolibrary.org/obo/CHEBI_90344 node Orphanet_98909 Desminopathy null http://www.orpha.net/ORDO/Orphanet_98909 node MONDO_0020771 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy null http://purl.obolibrary.org/obo/MONDO_0020771 node EFO_1000247 Extrahepatic Bile Duct Adenosquamous Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000247 node EFO_0009048 Intrahepatic cholestasis of pregnancy null http://www.ebi.ac.uk/efo/EFO_0009048 node Orphanet_165985 Diazoxide-sensitive diffuse hyperinsulinism null http://www.orpha.net/ORDO/Orphanet_165985 node HP_0003674 Onset Adolescent is defined by WHO as a person between 10-19 years of age. http://purl.obolibrary.org/obo/HP_0003674 node Orphanet_276193 Spinocerebellar ataxia type 35 null http://www.orpha.net/ORDO/Orphanet_276193 node Orphanet_156237 Syndrome or malformation associated with head and neck malformations null http://www.orpha.net/ORDO/Orphanet_156237 node Orphanet_276212 Mucopolysaccharidosis type 6, rapidly progressing null http://www.orpha.net/ORDO/Orphanet_276212 node Orphanet_2658 Lenz-Majewski hyperostotic dwarfism null http://www.orpha.net/ORDO/Orphanet_2658 node EFO_0008141 granulins measurement null http://www.ebi.ac.uk/efo/EFO_0008141 node EFO_0000097 obsolete_B-lymphocyte null http://www.ebi.ac.uk/efo/EFO_0000097 node EFO_0006982 Ct-1 null http://www.ebi.ac.uk/efo/EFO_0006982 node EFO_0000682 obsolete_renal clear cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0000682 node EFO_0007600 L1-S8R null http://www.ebi.ac.uk/efo/EFO_0007600 node NCBITaxon_32264 Tetranychus urticae null http://purl.obolibrary.org/obo/NCBITaxon_32264 node CL_0002039 immature NK T cell stage I null http://purl.obolibrary.org/obo/CL_0002039 node EFO_0001089 BEAS-2B null http://www.ebi.ac.uk/efo/EFO_0001089 node EFO_1000949 gastroschisis null http://www.ebi.ac.uk/efo/EFO_1000949 node Orphanet_209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 null http://www.orpha.net/ORDO/Orphanet_209033 node Orphanet_93403 Syndactyly type 2 null http://www.orpha.net/ORDO/Orphanet_93403 node Orphanet_86 Familial abdominal aortic aneurysm null http://www.orpha.net/ORDO/Orphanet_86 node Orphanet_156 Carnitine palmitoyl transferase 1A deficiency Editor note: consider adding sibling for CPT-1B http://www.orpha.net/ORDO/Orphanet_156 node EFO_1001186 Sneddon syndrome null http://www.ebi.ac.uk/efo/EFO_1001186 node EFO_0008362 farm exposure measurement null http://www.ebi.ac.uk/efo/EFO_0008362 node EFO_0007413 osteitis fibrosa null http://www.ebi.ac.uk/efo/EFO_0007413 node CHEBI_34839 methoprene null http://purl.obolibrary.org/obo/CHEBI_34839 node CL_0000944 Be2 cell Be2 cells are also reportedly capable of secreting IL-13 and TNF. They are also reportedly CD11b-negative and B220-positive. http://purl.obolibrary.org/obo/CL_0000944 node EFO_0004689 obsolete_Jervell and Lange-Nielsen syndrome null http://www.ebi.ac.uk/efo/EFO_0004689 node EFO_0002352 SR null http://www.ebi.ac.uk/efo/EFO_0002352 node EFO_1000092 Appendix Neuroendocrine Tumor G1 null http://www.ebi.ac.uk/efo/EFO_1000092 node GO_1902521 response to etoposide null http://purl.obolibrary.org/obo/GO_1902521 node EFO_0009218 Hemoglobin E to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009218 node EFO_0008450 fractional excretion of magnesium measurement null http://www.ebi.ac.uk/efo/EFO_0008450 node EFO_0004296 thyroid function null http://www.ebi.ac.uk/efo/EFO_0004296 node CL_0000827 pro-T cell null http://purl.obolibrary.org/obo/CL_0000827 node EFO_0004777 alcohol withdrawal null http://www.ebi.ac.uk/efo/EFO_0004777 node MONDO_0010542 dilated cardiomyopathy 3B null http://purl.obolibrary.org/obo/MONDO_0010542 node EFO_1001087 parathyroid adenoma null http://www.ebi.ac.uk/efo/EFO_1001087 node CLO_0013834 GM17205 null http://purl.obolibrary.org/obo/CLO_0013834 node EFO_0004133 obsolete_angioedemas, hereditary null http://www.ebi.ac.uk/efo/EFO_0004133 node MONDO_0021663 sarcomatoid squamous cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0021663 node Orphanet_158124 Genetic dementia null http://www.orpha.net/ORDO/Orphanet_158124 node HP_0000078 Abnormality of the genital system null http://purl.obolibrary.org/obo/HP_0000078 node NCBITaxon_52766 Caldicellulosiruptor lactoaceticus null http://purl.obolibrary.org/obo/NCBITaxon_52766 node EFO_0003135 HCC515 null http://www.ebi.ac.uk/efo/EFO_0003135 node Orphanet_2072 Gaucher disease - ophthalmoplegia - cardiovascular calcification null http://www.orpha.net/ORDO/Orphanet_2072 node MONDO_0021476 benign neoplasm of tongue null http://purl.obolibrary.org/obo/MONDO_0021476 node Orphanet_97678 Maternal uniparental disomy of chromosome 13 null http://www.orpha.net/ORDO/Orphanet_97678 node Orphanet_217613 Mitochondrial disease with dilated cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_217613 node CHEBI_66857 phosphatidylcholine 36:1 null http://purl.obolibrary.org/obo/CHEBI_66857 node NCBITaxon_3246 Selaginella null http://purl.obolibrary.org/obo/NCBITaxon_3246 node MONDO_0016398 peroxisomal disease with epilepsy null http://purl.obolibrary.org/obo/MONDO_0016398 node CLO_0033570 AG08048 null http://purl.obolibrary.org/obo/CLO_0033570 node EFO_0009306 atazanavir measurement null http://www.ebi.ac.uk/efo/EFO_0009306 node EFO_0000969 obsolete_female reproductive system null http://www.ebi.ac.uk/efo/EFO_0000969 node EFO_0004179 restriction digest null http://www.ebi.ac.uk/efo/EFO_0004179 node CHEBI_16236 ethanol null http://purl.obolibrary.org/obo/CHEBI_16236 node MONDO_0003008 hereditary renal cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0003008 node EFO_0006579 HEL null http://www.ebi.ac.uk/efo/EFO_0006579 node EFO_0002505 obsolete_multiple system atrophy null http://www.ebi.ac.uk/efo/EFO_0002505 node EFO_0004221 obsolete_External ear null http://www.ebi.ac.uk/efo/EFO_0004221 node NCBITaxon_38323 Bartonella henselae null http://purl.obolibrary.org/obo/NCBITaxon_38323 node EFO_0008776 iDES null http://www.ebi.ac.uk/efo/EFO_0008776 node CHEBI_28790 serotonin null http://purl.obolibrary.org/obo/CHEBI_28790 node MONDO_0002959 radiculopathy Editor note: DO classifies under polyradiculopathy, which we invert http://purl.obolibrary.org/obo/MONDO_0002959 node Orphanet_1478 Interauricular communication null http://www.orpha.net/ORDO/Orphanet_1478 node EFO_0006667 NCI-H1944 null http://www.ebi.ac.uk/efo/EFO_0006667 node EFO_0007992 basophil percentage of leukocytes null http://www.ebi.ac.uk/efo/EFO_0007992 node EFO_0005071 polylysine substrate coating null http://www.ebi.ac.uk/efo/EFO_0005071 node CHEBI_22584 antimycin A null http://purl.obolibrary.org/obo/CHEBI_22584 node EFO_0004073 CB66 null http://www.ebi.ac.uk/efo/EFO_0004073 node UBERON_0001004 respiratory system null http://purl.obolibrary.org/obo/UBERON_0001004 node Orphanet_295041 Patella aplasia/hypoplasia, bilateral null http://www.orpha.net/ORDO/Orphanet_295041 node CHEBI_3312 calcium chloride null http://purl.obolibrary.org/obo/CHEBI_3312 node GO_0007420 brain development null http://purl.obolibrary.org/obo/GO_0007420 node HP_0030914 Abnormal peristalsis null http://purl.obolibrary.org/obo/HP_0030914 node CHEBI_63959 celastrol null http://purl.obolibrary.org/obo/CHEBI_63959 node Orphanet_2543 Microphthalmia - cataract null http://www.orpha.net/ORDO/Orphanet_2543 node NCBITaxon_10036 Mesocricetus auratus null http://purl.obolibrary.org/obo/NCBITaxon_10036 node EFO_0008922 SHAPE-Seq null http://www.ebi.ac.uk/efo/EFO_0008922 node Orphanet_79136 Episodic ataxia type 4 null http://www.orpha.net/ORDO/Orphanet_79136 node MONDO_0002350 familial nephrotic syndrome null http://purl.obolibrary.org/obo/MONDO_0002350 node EFO_0003029 acute basophilic leukemia null http://www.ebi.ac.uk/efo/EFO_0003029 node UO_0000066 picomolar null http://purl.obolibrary.org/obo/UO_0000066 node CL_0001007 interstitial dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000020)(PMID:19243617). These cells are also CD281-positive (TLR1), CD282-positive (TLR2), CD283-positive (TLR3), CD284-positive (TLR4), CD286-positive (TLR6), CD288-positive (TLR8), and CD290-positive (TLR10). http://purl.obolibrary.org/obo/CL_0001007 node EFO_0001431 twin design null http://www.ebi.ac.uk/efo/EFO_0001431 node Orphanet_294992 Split hand null http://www.orpha.net/ORDO/Orphanet_294992 node Orphanet_98879 Hemophilia B null http://www.orpha.net/ORDO/Orphanet_98879 node EFO_0010325 precentral gyrus volume measurement null http://www.ebi.ac.uk/efo/EFO_0010325 node Orphanet_2631 Mesomelic dwarfism - cleft palate - camptodactyly null http://www.orpha.net/ORDO/Orphanet_2631 node GO_0005844 polysome null http://purl.obolibrary.org/obo/GO_0005844 node EFO_0002499 anaplastic astrocytoma null http://www.ebi.ac.uk/efo/EFO_0002499 node EFO_0007531 urogenital tuberculosis Editor note: in ORDO this is classified 'rare disorder with obstructive azoospermia' but this is male specific, so we move to the male-specific subclass http://www.ebi.ac.uk/efo/EFO_0007531 node Orphanet_743 Hereditary thrombophilia due to congenital protein S deficiency null http://www.orpha.net/ORDO/Orphanet_743 node HP_0000179 Thick lower lip vermilion Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately. http://purl.obolibrary.org/obo/HP_0000179 node MONDO_0014914 Dias-Logan syndrome null http://purl.obolibrary.org/obo/MONDO_0014914 node CHEBI_35559 furan null http://purl.obolibrary.org/obo/CHEBI_35559 node Orphanet_171889 Myopathy with hexagonally cross-linked tubular arrays null http://www.orpha.net/ORDO/Orphanet_171889 node CL_0002420 immature T cell null http://purl.obolibrary.org/obo/CL_0002420 node Orphanet_293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form null http://www.orpha.net/ORDO/Orphanet_293899 node HP_0003530 Elevated circulating glutaric acid concentration null http://purl.obolibrary.org/obo/HP_0003530 node Orphanet_331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency null http://www.orpha.net/ORDO/Orphanet_331206 node Orphanet_98967 Schnyder corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98967 node EFO_0002587 Theiler stage 26 null http://www.ebi.ac.uk/efo/EFO_0002587 node EFO_1000961 Helicobacter pylori infectious disease null http://www.ebi.ac.uk/efo/EFO_1000961 node Orphanet_93925 Alobar holoprosencephaly null http://www.orpha.net/ORDO/Orphanet_93925 node Orphanet_391457 HSD10 disease, neonatal type null http://www.orpha.net/ORDO/Orphanet_391457 node EFO_0009860 chromosomal aberration frequency null http://www.ebi.ac.uk/efo/EFO_0009860 node GO_0051046 regulation of secretion null http://purl.obolibrary.org/obo/GO_0051046 node EFO_0002985 ILSXISS49/TejJ null http://www.ebi.ac.uk/efo/EFO_0002985 node NCBITaxon_167542 Prochlorococcus marinus str. MIT 9515 null http://purl.obolibrary.org/obo/NCBITaxon_167542 node EFO_0001905 obsolete_blood plasma null http://www.ebi.ac.uk/efo/EFO_0001905 node NCBITaxon_9925 Capra hircus null http://purl.obolibrary.org/obo/NCBITaxon_9925 node EFO_0004368 Number of molecules null http://www.ebi.ac.uk/efo/EFO_0004368 node CHEBI_16991 DNA null http://purl.obolibrary.org/obo/CHEBI_16991 node Orphanet_714 Hemolytic anemia due to diphosphoglycerate mutase deficiency null http://www.orpha.net/ORDO/Orphanet_714 node Orphanet_319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Editor note: In ORDO classified at type 1 interferonopathy but we exclude this, as it is an autoinflammatory disease http://www.orpha.net/ORDO/Orphanet_319563 node BTO_0001616 colorectal cancer cell line null http://purl.obolibrary.org/obo/BTO_0001616 node Orphanet_2823 Paraplegia - brachydactyly - cone-shaped epiphysis null http://www.orpha.net/ORDO/Orphanet_2823 node EFO_0007818 athletic endurance measurement null http://www.ebi.ac.uk/efo/EFO_0007818 node Orphanet_238510 Lymphoproliferative syndrome null http://www.orpha.net/ORDO/Orphanet_238510 node NCBITaxon_9554 Papio null http://purl.obolibrary.org/obo/NCBITaxon_9554 node HP_0005562 Multiple renal cysts null http://purl.obolibrary.org/obo/HP_0005562 node EFO_0002910 ENCODE null http://www.ebi.ac.uk/efo/EFO_0002910 node EFO_0007128 actinomycosis null http://www.ebi.ac.uk/efo/EFO_0007128 node EFO_0005582 renal pelvis carcinoma null http://www.ebi.ac.uk/efo/EFO_0005582 node Orphanet_94063 12q14 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_94063 node Orphanet_935 Short-limb skeletal dysplasia with severe combined immunodeficiency null http://www.orpha.net/ORDO/Orphanet_935 node CHEBI_73924 His-Ala null http://purl.obolibrary.org/obo/CHEBI_73924 node Orphanet_138066 Pierre Robin syndrome associated with miscellaneous anomalies null http://www.orpha.net/ORDO/Orphanet_138066 node EFO_0005395 MUTZ-3 null http://www.ebi.ac.uk/efo/EFO_0005395 node EFO_0002043 B140P null http://www.ebi.ac.uk/efo/EFO_0002043 node EFO_0009298 hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency null http://www.ebi.ac.uk/efo/EFO_0009298 node HP_0002313 Spastic paraparesis null http://purl.obolibrary.org/obo/HP_0002313 node CHEBI_41774 tamoxifen null http://purl.obolibrary.org/obo/CHEBI_41774 node FBbt_00005534 gnathal primordium null http://purl.obolibrary.org/obo/FBbt_00005534 node EFO_1001351 infectious arthritis null http://www.ebi.ac.uk/efo/EFO_1001351 node CHEBI_16189 sulfate null http://purl.obolibrary.org/obo/CHEBI_16189 node HP_0002721 Immunodeficiency null http://purl.obolibrary.org/obo/HP_0002721 node EFO_0009804 pulse wave reflection index measurement null http://www.ebi.ac.uk/efo/EFO_0009804 node EFO_0006598 IM95m null http://www.ebi.ac.uk/efo/EFO_0006598 node Orphanet_261771 Partial deletion of chromosome 2 null http://www.orpha.net/ORDO/Orphanet_261771 node EFO_0007216 congenital diaphragmatic hernia null http://www.ebi.ac.uk/efo/EFO_0007216 node EFO_1001329 Follicular Cyst null http://www.ebi.ac.uk/efo/EFO_1001329 node EFO_0009386 central nervous system disease null http://www.ebi.ac.uk/efo/EFO_0009386 node NCBITaxon_308872 Phalaenopsis aphrodite subsp. formosana null http://purl.obolibrary.org/obo/NCBITaxon_308872 node EFO_0005483 ES-Bruce4 null http://www.ebi.ac.uk/efo/EFO_0005483 node MONDO_0028226 autosomal recessive severe congenital neutropenia null http://purl.obolibrary.org/obo/MONDO_0028226 node Orphanet_166472 Monogenic disease with epilepsy null http://www.orpha.net/ORDO/Orphanet_166472 node Orphanet_295120 Split hand, unilateral null http://www.orpha.net/ORDO/Orphanet_295120 node EFO_0004942 T3b tumor stage null http://www.ebi.ac.uk/efo/EFO_0004942 node EFO_0009199 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis null http://www.ebi.ac.uk/efo/EFO_0009199 node EFO_0010907 polyomavirus 2 seropositivity null http://www.ebi.ac.uk/efo/EFO_0010907 node HP_0002141 Gait imbalance null http://purl.obolibrary.org/obo/HP_0002141 node Orphanet_363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome null http://www.orpha.net/ORDO/Orphanet_363523 node NCBITaxon_90370 Salmonella enterica subsp. enterica serovar Typhi null http://purl.obolibrary.org/obo/NCBITaxon_90370 node Orphanet_281238 Autosomal ichthyosis syndrome with prominent neurologics signs null http://www.orpha.net/ORDO/Orphanet_281238 node EFO_1000094 Ascending Colon Neuroendocrine Tumor G1 null http://www.ebi.ac.uk/efo/EFO_1000094 node Orphanet_247598 Neonatal intrahepatic cholestasis due to citrin deficiency null http://www.orpha.net/ORDO/Orphanet_247598 node EFO_1001417 Rhinitis, Allergic, Perennial null http://www.ebi.ac.uk/efo/EFO_1001417 node UBERON_4000170 median fin skeleton null http://purl.obolibrary.org/obo/UBERON_4000170 node EFO_0004439 AB SOLiD System 3.0 null http://www.ebi.ac.uk/efo/EFO_0004439 node EFO_0000046 CS57630 null http://www.ebi.ac.uk/efo/EFO_0000046 node EFO_0006931 nucleus accumbens volume null http://www.ebi.ac.uk/efo/EFO_0006931 node Orphanet_183490 Genetic photodermatosis null http://www.orpha.net/ORDO/Orphanet_183490 node MONDO_0018789 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy null http://purl.obolibrary.org/obo/MONDO_0018789 node EFO_0006744 RERF-LC-OK null http://www.ebi.ac.uk/efo/EFO_0006744 node NCBITaxon_1302 Streptococcus gordonii null http://purl.obolibrary.org/obo/NCBITaxon_1302 node CLO_0015093 GM17134 null http://purl.obolibrary.org/obo/CLO_0015093 node EFO_0000267 obsolete_apical meristem null http://www.ebi.ac.uk/efo/EFO_0000267 node CHEBI_35705 immunosuppressive agent null http://purl.obolibrary.org/obo/CHEBI_35705 node Orphanet_363611 Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome null http://www.orpha.net/ORDO/Orphanet_363611 node EFO_0000748 ChIP-Chip null http://www.ebi.ac.uk/efo/EFO_0000748 node Orphanet_308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 null http://www.orpha.net/ORDO/Orphanet_308442 node EFO_0010256 neurodegeneration, childhood-onset, with cerebellar atrophy null http://www.ebi.ac.uk/efo/EFO_0010256 node Orphanet_206710 Generalized bulbospinal muscular atrophy null http://www.orpha.net/ORDO/Orphanet_206710 node EFO_0010737 autoinflammation with episodic fever and lymphadenopathy null http://www.ebi.ac.uk/efo/EFO_0010737 node EFO_0004150 obsolete_cherubism null http://www.ebi.ac.uk/efo/EFO_0004150 node MONDO_0020550 gestational choriocarcinoma null http://purl.obolibrary.org/obo/MONDO_0020550 node Orphanet_98675 Autosomal recessive optic atrophy null http://www.orpha.net/ORDO/Orphanet_98675 node Orphanet_1643 Xp22.3 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_1643 node EFO_1001903 nosophobia null http://www.ebi.ac.uk/efo/EFO_1001903 node EFO_0007781 stressful life event measurement null http://www.ebi.ac.uk/efo/EFO_0007781 node EFO_0006832 disposition index measurement null http://www.ebi.ac.uk/efo/EFO_0006832 node NCBITaxon_273057 Sulfolobus solfataricus P2 null http://purl.obolibrary.org/obo/NCBITaxon_273057 node CHEBI_28619 acrylamide null http://purl.obolibrary.org/obo/CHEBI_28619 node EFO_0000355 clinical treatment protocol null http://www.ebi.ac.uk/efo/EFO_0000355 node EFO_1001036 Meckel's diverticulum null http://www.ebi.ac.uk/efo/EFO_1001036 node MONDO_0012183 melanoma, cutaneous malignant, susceptibility to, 3 null http://purl.obolibrary.org/obo/MONDO_0012183 node HP_0001788 Premature rupture of membranes null http://purl.obolibrary.org/obo/HP_0001788 node EFO_0010344 cholesteryl ester 18:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010344 node EFO_0000168 obsolete_CTL sensitivity null http://www.ebi.ac.uk/efo/EFO_0000168 node EFO_0010825 response to fluoropyrimidines null http://www.ebi.ac.uk/efo/EFO_0010825 node CL_0000723 somatic stem cell null http://purl.obolibrary.org/obo/CL_0000723 node NCBITaxon_33743 Kyasanur forest disease virus null http://purl.obolibrary.org/obo/NCBITaxon_33743 node EFO_0001992 obsolete_seedling null http://www.ebi.ac.uk/efo/EFO_0001992 node CHEBI_42638 flufenamic acid null http://purl.obolibrary.org/obo/CHEBI_42638 node EFO_0005940 psychotic symptoms null http://www.ebi.ac.uk/efo/EFO_0005940 node Orphanet_98763 Spinocerebellar ataxia type 14 null http://www.orpha.net/ORDO/Orphanet_98763 node Orphanet_97369 Renal tubular dysgenesis of genetic origin null http://www.orpha.net/ORDO/Orphanet_97369 node EFO_0007682 response to cetuximab null http://www.ebi.ac.uk/efo/EFO_0007682 node NCBITaxon_8267 Hippoglossus hippoglossus null http://purl.obolibrary.org/obo/NCBITaxon_8267 node UBERON_0005439 definitive endoderm null http://purl.obolibrary.org/obo/UBERON_0005439 node NCBITaxon_60520 Lactobacillus paraplantarum null http://purl.obolibrary.org/obo/NCBITaxon_60520 node HP_0001395 Hepatic fibrosis null http://purl.obolibrary.org/obo/HP_0001395 node EFO_1002051 facial nerve disease null http://www.ebi.ac.uk/efo/EFO_1002051 node CHEBI_8435 prochlorperazine null http://purl.obolibrary.org/obo/CHEBI_8435 node MONDO_0024296 vascular neoplasm null http://purl.obolibrary.org/obo/MONDO_0024296 node Orphanet_90653 Stickler syndrome type 1 null http://www.orpha.net/ORDO/Orphanet_90653 node CL_0000125 glial cell null http://purl.obolibrary.org/obo/CL_0000125 node Orphanet_2322 Kabuki syndrome null http://www.orpha.net/ORDO/Orphanet_2322 node EFO_0007317 hymenolepiasis null http://www.ebi.ac.uk/efo/EFO_0007317 node MONDO_0014994 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies null http://purl.obolibrary.org/obo/MONDO_0014994 node EFO_0009946 low density lipoprotein triglyceride measurement null http://www.ebi.ac.uk/efo/EFO_0009946 node CL_0002111 CD38-negative unswitched memory B cell null http://purl.obolibrary.org/obo/CL_0002111 node MONDO_0002901 blood group incompatibility May be obsoleted as it represents a finding http://purl.obolibrary.org/obo/MONDO_0002901 node MONDO_0037735 sebaceous gland cancer null http://purl.obolibrary.org/obo/MONDO_0037735 node EFO_0007405 optic neuritis null http://www.ebi.ac.uk/efo/EFO_0007405 node EFO_0008167 interleukin 1 Receptor accessory protein measurement null http://www.ebi.ac.uk/efo/EFO_0008167 node EFO_0007218 congenital rubella null http://www.ebi.ac.uk/efo/EFO_0007218 node EFO_0008730 EnIGMA null http://www.ebi.ac.uk/efo/EFO_0008730 node Orphanet_209224 Qualitative or quantitative defects of myotilin null http://www.orpha.net/ORDO/Orphanet_209224 node Orphanet_335 Congenital fibrinogen deficiency null http://www.orpha.net/ORDO/Orphanet_335 node EFO_1001897 Morvan syndrome null http://www.ebi.ac.uk/efo/EFO_1001897 node EFO_0007626 emphysema imaging measurement null http://www.ebi.ac.uk/efo/EFO_0007626 node MONDO_0002328 intracranial hemangioma null http://purl.obolibrary.org/obo/MONDO_0002328 node EFO_0008449 magnesium:creatinine ratio measurement null http://www.ebi.ac.uk/efo/EFO_0008449 node HP_0000356 Abnormality of the outer ear null http://purl.obolibrary.org/obo/HP_0000356 node MONDO_0019611 TSH-secreting pituitary adenoma null http://purl.obolibrary.org/obo/MONDO_0019611 node EFO_0009774 serine measurement null http://www.ebi.ac.uk/efo/EFO_0009774 node CLO_0013777 GM17188 null http://purl.obolibrary.org/obo/CLO_0013777 node CL_0002012 Kit-low proerythroblast Markers are associated with mouse cells. http://purl.obolibrary.org/obo/CL_0002012 node CHEBI_16682 N-acetyl-beta-alanine null http://purl.obolibrary.org/obo/CHEBI_16682 node Orphanet_238459 SLC35A1-CDG null http://www.orpha.net/ORDO/Orphanet_238459 node CHEBI_84661 triacylglycerol 52:3 null http://purl.obolibrary.org/obo/CHEBI_84661 node EFO_0003691 obsolete_anterior lateral line system null http://www.ebi.ac.uk/efo/EFO_0003691 node EFO_0002764 ChIP-chip by SNP array null http://www.ebi.ac.uk/efo/EFO_0002764 node MONDO_0042488 Cestode infectious disease null http://purl.obolibrary.org/obo/MONDO_0042488 node EFO_1001985 congenital fibrosis of the extraocular muscles also in HPO HP_0001491 http://www.ebi.ac.uk/efo/EFO_1001985 node EFO_0007509 tick paralysis null http://www.ebi.ac.uk/efo/EFO_0007509 node EFO_0002120 C33A null http://www.ebi.ac.uk/efo/EFO_0002120 node EFO_0000633 operator variation null http://www.ebi.ac.uk/efo/EFO_0000633 node FBbt_00005611 embryonic precursor of adult foregut null http://purl.obolibrary.org/obo/FBbt_00005611 node HP_0000444 Convex nasal ridge null http://purl.obolibrary.org/obo/HP_0000444 node EFO_0009862 chromatid-type aberration frequency null http://www.ebi.ac.uk/efo/EFO_0009862 node Orphanet_3320 Thrombocytopenia - absent radius null http://www.orpha.net/ORDO/Orphanet_3320 node Orphanet_1839 Hereditary mucoepithelial dysplasia null http://www.orpha.net/ORDO/Orphanet_1839 node EFO_0008701 CROP-Seq null http://www.ebi.ac.uk/efo/EFO_0008701 node EFO_0000679 obsolete_rat strain null http://www.ebi.ac.uk/efo/EFO_0000679 node Orphanet_225154 Familial infantile bilateral striatal necrosis null http://www.orpha.net/ORDO/Orphanet_225154 node EFO_0009463 infarction null http://www.ebi.ac.uk/efo/EFO_0009463 node Orphanet_93605 Classic Bartter syndrome null http://www.orpha.net/ORDO/Orphanet_93605 node EFO_0000721 time null http://www.ebi.ac.uk/efo/EFO_0000721 node CHEBI_33527 ribonate null http://purl.obolibrary.org/obo/CHEBI_33527 node Orphanet_183580 Genetic malformation syndrome with odontal and/or periodontal component null http://www.orpha.net/ORDO/Orphanet_183580 node Orphanet_3366 Isolated trigonocephaly null http://www.orpha.net/ORDO/Orphanet_3366 node CLO_0031535 GM14479 null http://purl.obolibrary.org/obo/CLO_0031535 node EFO_0005174 Bayreuth ecotype null http://www.ebi.ac.uk/efo/EFO_0005174 node EFO_0009077 premature chromatid separation trait null http://www.ebi.ac.uk/efo/EFO_0009077 node EFO_0002349 SNU449 null http://www.ebi.ac.uk/efo/EFO_0002349 node ZFA_0000841 slow muscle cell somite 14 null http://purl.obolibrary.org/obo/ZFA_0000841 node EFO_0003861 pancreactic component null http://www.ebi.ac.uk/efo/EFO_0003861 node NCBITaxon_495 Neisseria elongata null http://purl.obolibrary.org/obo/NCBITaxon_495 node Orphanet_2186 Hydrocephalus - blue sclerae - nephropathy null http://www.orpha.net/ORDO/Orphanet_2186 node Orphanet_369929 Aldosterone-producing adenoma with seizures and neurological abnormalities null http://www.orpha.net/ORDO/Orphanet_369929 node EFO_1000652 acute pancreatitis null http://www.ebi.ac.uk/efo/EFO_1000652 node HP_0000029 Testicular atrophy null http://purl.obolibrary.org/obo/HP_0000029 node HP_0010805 Upturned corners of mouth This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the upper lip is enlarged. http://purl.obolibrary.org/obo/HP_0010805 node HP_0001541 Ascites Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. http://purl.obolibrary.org/obo/HP_0001541 node HP_0000614 Abnormal nasolacrimal system morphology The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct. http://purl.obolibrary.org/obo/HP_0000614 node Orphanet_221120 Pseudoaminopterin syndrome null http://www.orpha.net/ORDO/Orphanet_221120 node EFO_0009551 heart valve disease null http://www.ebi.ac.uk/efo/EFO_0009551 node EFO_0005397 high content analysis of cells Elenor Williams' note: Is high content analysis the same as high content screen? You could have high content analysis of only a few cells, but high content screen indicates that many cells or perturbations are analysed simultaneously Sira's response: seperate out HCA and HCS. This is different from ERO where HCA and HCS are seen synonymous. HCS is thus a subclass of HCA in EFO. http://www.ebi.ac.uk/efo/EFO_0005397 node EFO_0000604 C57BL/10 null http://www.ebi.ac.uk/efo/EFO_0000604 node EFO_0004317 extraversion null http://www.ebi.ac.uk/efo/EFO_0004317 node Orphanet_163209 Non-syndromic cerebral malformation due to abnormal neuronal migration null http://www.orpha.net/ORDO/Orphanet_163209 node CHEBI_36149 2-hydroxyglutarate(1-) null http://purl.obolibrary.org/obo/CHEBI_36149 node HP_0100813 Testicular torsion Many of the symptoms of testicular torsion are similar to the infection epididymitis. http://purl.obolibrary.org/obo/HP_0100813 node Orphanet_158 Systemic primary carnitine deficiency null http://www.orpha.net/ORDO/Orphanet_158 node NCBITaxon_54571 Streptomyces venezuelae null http://purl.obolibrary.org/obo/NCBITaxon_54571 node HP_0008388 Abnormal toenail morphology null http://purl.obolibrary.org/obo/HP_0008388 node EFO_0002060 IBL4 null http://www.ebi.ac.uk/efo/EFO_0002060 node CHEBI_74074 allopurinol riboside null http://purl.obolibrary.org/obo/CHEBI_74074 node FBbt_00001315 midline glial cell Ito et al. (1995) states that there are generally three or four midline glial cells per neuromere, but occasionally there are more than four. The thoracic neuromeres are more likely than the abdominal neuromeres to have more. Midline glia are repo (FBgn0011701) negative and are eliminated by apoptosis during the pupal stage. http://purl.obolibrary.org/obo/FBbt_00001315 node EFO_0001409 obsolete_ankle null http://www.ebi.ac.uk/efo/EFO_0001409 node EFO_0007010 drug use measurement null http://www.ebi.ac.uk/efo/EFO_0007010 node NCBITaxon_28572 Penicillium funiculosum null http://purl.obolibrary.org/obo/NCBITaxon_28572 node EFO_0000825 obsolete_mouth structure null http://www.ebi.ac.uk/efo/EFO_0000825 node MONDO_0004180 benign urinary system neoplasm null http://purl.obolibrary.org/obo/MONDO_0004180 node HP_0002015 Dysphagia null http://purl.obolibrary.org/obo/HP_0002015 node Orphanet_391307 Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome null http://www.orpha.net/ORDO/Orphanet_391307 node Orphanet_206659 Non-dystrophic myopathy with collagen 6 anomaly null http://www.orpha.net/ORDO/Orphanet_206659 node EFO_1000740 neurodermatitis null http://www.ebi.ac.uk/efo/EFO_1000740 node EFO_0003762 vitamin D deficiency null http://www.ebi.ac.uk/efo/EFO_0003762 node EFO_0000211 unspecified peripheral T-cell lymphoma null http://www.ebi.ac.uk/efo/EFO_0000211 node CHEBI_20070 3-hydroxyhexanoate null http://purl.obolibrary.org/obo/CHEBI_20070 node EFO_0005485 TT2 null http://www.ebi.ac.uk/efo/EFO_0005485 node MONDO_0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay null http://purl.obolibrary.org/obo/MONDO_0060549 node UBERON_0002416 integumental system null http://purl.obolibrary.org/obo/UBERON_0002416 node Orphanet_1113 Aphalangy - syndactyly - microcephaly null http://www.orpha.net/ORDO/Orphanet_1113 node EFO_0005322 callous-unemotional behaviour null http://www.ebi.ac.uk/efo/EFO_0005322 node Orphanet_1521 Craniofrontonasal dysplasia - Poland anomaly null http://www.orpha.net/ORDO/Orphanet_1521 node EFO_0010428 triacylglycerol 56:10 measurement null http://www.ebi.ac.uk/efo/EFO_0010428 node EFO_0001016 obsolete_cambium null http://www.ebi.ac.uk/efo/EFO_0001016 node EFO_0000432 breast ductal carcinoma in situ null http://www.ebi.ac.uk/efo/EFO_0000432 node MONDO_0008572 tibia, hypoplasia or aplasia of, with polydactyly null http://purl.obolibrary.org/obo/MONDO_0008572 node EFO_0004218 obsolete_marijuana dependence null http://www.ebi.ac.uk/efo/EFO_0004218 node MONDO_0024573 familial hypertrophic cardiomyopathy null http://purl.obolibrary.org/obo/MONDO_0024573 node EFO_0005730 endothelial cell derived cell line null http://www.ebi.ac.uk/efo/EFO_0005730 node EFO_0004803 male fertility null http://www.ebi.ac.uk/efo/EFO_0004803 node EFO_0000913 obsolete_frontal lobe null http://www.ebi.ac.uk/efo/EFO_0000913 node EFO_1001113 pneumatosis cystoides intestinalis null http://www.ebi.ac.uk/efo/EFO_1001113 node Orphanet_1334 Chronic mucocutaneous candidosis null http://www.orpha.net/ORDO/Orphanet_1334 node HP_0009921 Duane anomaly null http://purl.obolibrary.org/obo/HP_0009921 node CL_0000800 mature gamma-delta T cell null http://purl.obolibrary.org/obo/CL_0000800 node Orphanet_2292 Congenital bowing of long bones null http://www.orpha.net/ORDO/Orphanet_2292 node Orphanet_79388 Mucopolysaccharidosis with skin involvement null http://www.orpha.net/ORDO/Orphanet_79388 node EFO_0005410 tooth agenesis null http://www.ebi.ac.uk/efo/EFO_0005410 node Orphanet_53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity null http://www.orpha.net/ORDO/Orphanet_53583 node EFO_0010035 Frac-Seq null http://www.ebi.ac.uk/efo/EFO_0010035 node UBERON_0004193 loop of Henle ascending limb thin segment null http://purl.obolibrary.org/obo/UBERON_0004193 node EFO_0001104 obsolete_GLI56 null http://www.ebi.ac.uk/efo/EFO_0001104 node Orphanet_1422 Chondrodysplasia - disorder of sex development null http://www.orpha.net/ORDO/Orphanet_1422 node EFO_0000520 obsolete_glioma null http://www.ebi.ac.uk/efo/EFO_0000520 node EFO_1001201 superior mesenteric artery syndrome null http://www.ebi.ac.uk/efo/EFO_1001201 node MONDO_0001519 entropion (disease) null http://purl.obolibrary.org/obo/MONDO_0001519 node EFO_0007989 monocyte percentage of leukocytes null http://www.ebi.ac.uk/efo/EFO_0007989 node MONDO_0021272 inherited orthostatic hypotension null http://purl.obolibrary.org/obo/MONDO_0021272 node MONDO_0019781 astrocytoma (excluding glioblastoma) This class denotes astrocytomas proper which excludes GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 http://purl.obolibrary.org/obo/MONDO_0019781 node CHEBI_15588 (R)-malate(2-) null http://purl.obolibrary.org/obo/CHEBI_15588 node EFO_0005631 rectal adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0005631 node MONDO_0024474 intraepithelial neoplasia null http://purl.obolibrary.org/obo/MONDO_0024474 node EFO_0004704 age at menopause null http://www.ebi.ac.uk/efo/EFO_0004704 node EFO_0006552 CMA-03 null http://www.ebi.ac.uk/efo/EFO_0006552 node Orphanet_79476 Griscelli disease type 1 null http://www.orpha.net/ORDO/Orphanet_79476 node Orphanet_295038 Patella aplasia/hypoplasia, unilateral null http://www.orpha.net/ORDO/Orphanet_295038 node EFO_0007783 mosaic loss of chromosome Y measurement null http://www.ebi.ac.uk/efo/EFO_0007783 node MONDO_0019846 acquired central diabetes insipidus null http://purl.obolibrary.org/obo/MONDO_0019846 node Orphanet_309111 Combined pancreatic lipase-colipase deficiency null http://www.orpha.net/ORDO/Orphanet_309111 node UBERON_0000467 anatomical system null http://purl.obolibrary.org/obo/UBERON_0000467 node Orphanet_3467 Hereditary xanthinuria null http://www.orpha.net/ORDO/Orphanet_3467 node Orphanet_391665 Homozygous familial hypercholesterolemia null http://www.orpha.net/ORDO/Orphanet_391665 node NCBITaxon_35128 Thalassiosira pseudonana null http://purl.obolibrary.org/obo/NCBITaxon_35128 node EFO_0006640 LS 180 null http://www.ebi.ac.uk/efo/EFO_0006640 node GO_0044057 regulation of system process null http://purl.obolibrary.org/obo/GO_0044057 node Orphanet_580 Mucopolysaccharidosis type 2 null http://www.orpha.net/ORDO/Orphanet_580 node Orphanet_295215 Humero-ulnar synostosis, bilateral null http://www.orpha.net/ORDO/Orphanet_295215 node MONDO_0001750 non-renal secondary hyperparathyroidism null http://purl.obolibrary.org/obo/MONDO_0001750 node Orphanet_163681 Cortical dysplasia - focal epilepsy syndrome null http://www.orpha.net/ORDO/Orphanet_163681 node NCBITaxon_98360 Salmonella enterica subsp. enterica serovar Dublin null http://purl.obolibrary.org/obo/NCBITaxon_98360 node CLO_0036870 GM07029 null http://purl.obolibrary.org/obo/CLO_0036870 node EFO_0007684 response to high fat food intake null http://www.ebi.ac.uk/efo/EFO_0007684 node MONDO_0002610 purpura (disease) null http://purl.obolibrary.org/obo/MONDO_0002610 node Orphanet_927 Hyperammonemia due to N-acetylglutamate synthetase deficiency null http://www.orpha.net/ORDO/Orphanet_927 node EFO_0004797 obsolete_Li-Fraumeni syndrome null http://www.ebi.ac.uk/efo/EFO_0004797 node Orphanet_98366 Constitutional hemolytic anemia due to acanthocytosis null http://www.orpha.net/ORDO/Orphanet_98366 node Orphanet_280558 Warsaw breakage syndrome null http://www.orpha.net/ORDO/Orphanet_280558 node EFO_0006523 symmetrical dimethylarginine measurement null http://www.ebi.ac.uk/efo/EFO_0006523 node Orphanet_2849 Perlman syndrome null http://www.orpha.net/ORDO/Orphanet_2849 node Orphanet_401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency null http://www.orpha.net/ORDO/Orphanet_401948 node EFO_0007490 spinal stenosis null http://www.ebi.ac.uk/efo/EFO_0007490 node EFO_0007285 Gerstmann syndrome null http://www.ebi.ac.uk/efo/EFO_0007285 node CL_0002417 primitive erythroid lineage cell null http://purl.obolibrary.org/obo/CL_0002417 node HP_0000803 Renal cortical cysts null http://purl.obolibrary.org/obo/HP_0000803 node Orphanet_3086 Autosomal dominant vitreoretinochoroidopathy null http://www.orpha.net/ORDO/Orphanet_3086 node Orphanet_98712 Metabolic disease with cataract null http://www.orpha.net/ORDO/Orphanet_98712 node HP_0008081 Pes valgus Valgus refers to the twisting outward of a bone or joint is twisted outward from the center of the body, whereas varus is a twisting toward the center of the body. http://purl.obolibrary.org/obo/HP_0008081 node EFO_0009050 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome null http://www.ebi.ac.uk/efo/EFO_0009050 node EFO_0000691 sarcoma null http://www.ebi.ac.uk/efo/EFO_0000691 node EFO_1001382 Obesity Hypoventilation Syndrome null http://www.ebi.ac.uk/efo/EFO_1001382 node EFO_1000455 Paranasal Sinus Schneiderian Papilloma null http://www.ebi.ac.uk/efo/EFO_1000455 node EFO_0001098 C2C12 null http://www.ebi.ac.uk/efo/EFO_0001098 node EFO_0007101 iPS-11c null http://www.ebi.ac.uk/efo/EFO_0007101 node Orphanet_828 Stickler syndrome Editor notes: DOID places this under AD, but this is inconsistent with MONDO:0016647 autosomal recessive Stickler syndrome http://www.orpha.net/ORDO/Orphanet_828 node EFO_0004885 early cardiac repolarization measurement null http://www.ebi.ac.uk/efo/EFO_0004885 node Orphanet_209027 Qualitative or quantitative defects of protein glycosyltransferase-like null http://www.orpha.net/ORDO/Orphanet_209027 node Orphanet_98454 Platelet storage pool disease null http://www.orpha.net/ORDO/Orphanet_98454 node EFO_1001195 subclavian steal syndrome null http://www.ebi.ac.uk/efo/EFO_1001195 node CHEBI_24297 glucuronate null http://purl.obolibrary.org/obo/CHEBI_24297 node EFO_0004698 insomnia null http://www.ebi.ac.uk/efo/EFO_0004698 node MONDO_0025371 Parvoviridae infectious disease null http://purl.obolibrary.org/obo/MONDO_0025371 node EFO_0008420 parietal cortex measurement null http://www.ebi.ac.uk/efo/EFO_0008420 node EFO_0007373 mixed cell type cancer null http://www.ebi.ac.uk/efo/EFO_0007373 node EFO_0008169 interleukin 1 receptor-like 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008169 node CL_0002505 liver CD103-negative dendritic cell null http://purl.obolibrary.org/obo/CL_0002505 node NCBITaxon_10376 Human herpesvirus 4 null http://purl.obolibrary.org/obo/NCBITaxon_10376 node HP_0002378 Hand tremor null http://purl.obolibrary.org/obo/HP_0002378 node EFO_0002139 COLO704 null http://www.ebi.ac.uk/efo/EFO_0002139 node Orphanet_401859 Lipoic acid synthetase deficiency null http://www.orpha.net/ORDO/Orphanet_401859 node PO_0000230 inflorescence meristem null http://purl.obolibrary.org/obo/PO_0000230 node EFO_0001771 normalization testing design null http://www.ebi.ac.uk/efo/EFO_0001771 node Orphanet_295146 Polydactyly of a biphalangeal thumb, bilateral null http://www.orpha.net/ORDO/Orphanet_295146 node EFO_1001283 Candidiasis, Invasive null http://www.ebi.ac.uk/efo/EFO_1001283 node HP_0002172 Postural instability null http://purl.obolibrary.org/obo/HP_0002172 node Orphanet_156604 Genetic parenchymatous liver disease null http://www.orpha.net/ORDO/Orphanet_156604 node FBbt_00001766 eye-antennal disc Figure 12 from Cohen (1993, Bate, Martinez Arias, 1993: 747--841) provides a fate map of the eye-antennal disc. http://purl.obolibrary.org/obo/FBbt_00001766 node EFO_0007461 recurrent pneumonia null http://www.ebi.ac.uk/efo/EFO_0007461 node HP_0003146 Hypocholesterolemia null http://purl.obolibrary.org/obo/HP_0003146 node Orphanet_226295 Primary congenital hypothyroidism null http://www.orpha.net/ORDO/Orphanet_226295 node EFO_0003144 heart failure null http://www.ebi.ac.uk/efo/EFO_0003144 node Orphanet_217622 Sensorineural deafness with dilated cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_217622 node EFO_0006957 X12063 measurement null http://www.ebi.ac.uk/efo/EFO_0006957 node MONDO_0021468 benign neoplasm of adrenal medulla null http://purl.obolibrary.org/obo/MONDO_0021468 node NCBITaxon_52824 Brassica carinata null http://purl.obolibrary.org/obo/NCBITaxon_52824 node EFO_0002625 obsolete_teratozoospermia null http://www.ebi.ac.uk/efo/EFO_0002625 node Orphanet_163985 Hyperekplexia - epilepsy null http://www.orpha.net/ORDO/Orphanet_163985 node Orphanet_295234 Congenital patella dislocation, unilateral null http://www.orpha.net/ORDO/Orphanet_295234 node Orphanet_213 Cystinosis null http://www.orpha.net/ORDO/Orphanet_213 node EFO_0009242 Myeloid Progenitor Cell Count null http://www.ebi.ac.uk/efo/EFO_0009242 node EFO_0010287 brain cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010287 node Orphanet_94148 Autosomal dominant cerebellar ataxia type 3 null http://www.orpha.net/ORDO/Orphanet_94148 node EFO_0010768 CCL25 measurement null http://www.ebi.ac.uk/efo/EFO_0010768 node EFO_0004181 cap analysis gene expression null http://www.ebi.ac.uk/efo/EFO_0004181 node NCBITaxon_5888 Paramecium tetraurelia null http://purl.obolibrary.org/obo/NCBITaxon_5888 node MONDO_0056815 liver adenosquamous carcinoma null http://purl.obolibrary.org/obo/MONDO_0056815 node EFO_0000291 obsolete_bladder MMHCC Obsolete: No longer required in EFO http://www.ebi.ac.uk/efo/EFO_0000291 node MONDO_0016701 oligoastrocytic tumor null http://purl.obolibrary.org/obo/MONDO_0016701 node EFO_0003640 obsolete_tooth 3V null http://www.ebi.ac.uk/efo/EFO_0003640 node EFO_0002713 Panc1 null http://www.ebi.ac.uk/efo/EFO_0002713 node MONDO_0015222 syndromic respiratory or mediastinal malformation null http://purl.obolibrary.org/obo/MONDO_0015222 node ZFA_0001384 pelvic fin bud null http://purl.obolibrary.org/obo/ZFA_0001384 node CLO_0016688 GM17789 null http://purl.obolibrary.org/obo/CLO_0016688 node EFO_0003453 obsolete_presumptive hypochord null http://www.ebi.ac.uk/efo/EFO_0003453 node HP_0001320 Cerebellar vermis hypoplasia null http://purl.obolibrary.org/obo/HP_0001320 node EFO_0004500 radiation induced mutation null http://www.ebi.ac.uk/efo/EFO_0004500 node EFO_0008403 susceptibility to mononucleosis measurement null http://www.ebi.ac.uk/efo/EFO_0008403 node CLO_0016593 GM17767 null http://purl.obolibrary.org/obo/CLO_0016593 node CHEBI_8378 prednisolone null http://purl.obolibrary.org/obo/CHEBI_8378 node EFO_0010375 phosphatidylcholine 34:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010375 node NCBITaxon_5514 Fusarium sporotrichioides null http://purl.obolibrary.org/obo/NCBITaxon_5514 node Orphanet_77298 Anophthalmia/microphthalmia - esophageal atresia null http://www.orpha.net/ORDO/Orphanet_77298 node GO_0032276 regulation of gonadotropin secretion null http://purl.obolibrary.org/obo/GO_0032276 node EFO_0010188 3 prime tag null http://www.ebi.ac.uk/efo/EFO_0010188 node EFO_0004082 DR40 null http://www.ebi.ac.uk/efo/EFO_0004082 node CHEBI_29747 cholate null http://purl.obolibrary.org/obo/CHEBI_29747 node EFO_0007873 cartilage thickness measurement null http://www.ebi.ac.uk/efo/EFO_0007873 node EFO_0003541 obsolete_optic primordium null http://www.ebi.ac.uk/efo/EFO_0003541 node MONDO_0030066 granulomatous disease, chronic, autosomal recessive, 5 null http://purl.obolibrary.org/obo/MONDO_0030066 node Orphanet_370930 XYLT1-CDG null http://www.orpha.net/ORDO/Orphanet_370930 node CL_0000788 naive B cell This cell type is compatible with the HIPC Lyoplate markers for 'naive B cell'. Per DSD: Naive B cells are also reportedly CD10-negative, CD19-positive, CD20-positive, CD21-positive, CD22-positive, CD25-negative, CD27-negative, CD34-negative, CD40-positive, CD43-negative, CD45-positive, CD48-positive, CD53-positive, CD80-negative, CD81-positive, CD84-positive, CD86-negative, CD95-negative, CD138-negative, CD150-positive, CD184/CXCR4-positive, CD185/CXCR5-positive, CD196/CCR6-positive, CD200-positive, CD229-positive, CD243-positive, CD289-positive, CD290-positive, CD352-positive, MHCII/HLA-DR-positive, cadherin 9-positive, and sIgH-positive, Transcription factors: Pax5-positive, ETS1-positive, FOXO1A-positive, KLF4-positive, KLF9-positive, MiTF-positive, OBF1-positive, PLZF-positive, and SpiB-positive. http://purl.obolibrary.org/obo/CL_0000788 node EFO_0000306 breast tumor luminal null http://www.ebi.ac.uk/efo/EFO_0000306 node MONDO_0017167 malignant epithelial tumor of salivary glands null http://purl.obolibrary.org/obo/MONDO_0017167 node NCBITaxon_83331 Mycobacterium tuberculosis CDC1551 null http://purl.obolibrary.org/obo/NCBITaxon_83331 node MONDO_0018492 hereditary clear cell renal cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0018492 node ZFA_0000407 pectoral girdle null http://purl.obolibrary.org/obo/ZFA_0000407 node CHEBI_50667 mercaptopurine null http://purl.obolibrary.org/obo/CHEBI_50667 node Orphanet_2064 Posterior fusion of lumbosacral vertebrae - blepharoptosis null http://www.orpha.net/ORDO/Orphanet_2064 node MONDO_0021925 tracheobronchitis null http://purl.obolibrary.org/obo/MONDO_0021925 node CHEBI_28262 dimethyl sulfoxide null http://purl.obolibrary.org/obo/CHEBI_28262 node NCBITaxon_69293 Gasterosteus aculeatus null http://purl.obolibrary.org/obo/NCBITaxon_69293 node CHEBI_18153 ethene null http://purl.obolibrary.org/obo/CHEBI_18153 node Orphanet_107 BOR syndrome (from orpha.net)nSummarynnBranchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required. http://www.orpha.net/ORDO/Orphanet_107 node EFO_0006341 transferrin measurement null http://www.ebi.ac.uk/efo/EFO_0006341 node DOID_7551 gonorrhea null http://purl.obolibrary.org/obo/DOID_7551 node Orphanet_35612 Nanophthalmia null http://www.orpha.net/ORDO/Orphanet_35612 node MONDO_0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome null http://purl.obolibrary.org/obo/MONDO_0018580 node EFO_0008970 TIF-Seq null http://www.ebi.ac.uk/efo/EFO_0008970 node EFO_0004026 AA87 null http://www.ebi.ac.uk/efo/EFO_0004026 node EFO_0009766 asparagine measurement null http://www.ebi.ac.uk/efo/EFO_0009766 node MONDO_0003468 biphasic synovial sarcoma null http://purl.obolibrary.org/obo/MONDO_0003468 node Orphanet_2790 Autosomal dominant osteosclerosis, Worth type null http://www.orpha.net/ORDO/Orphanet_2790 node UBERON_0005511 rhombomere 4 null http://purl.obolibrary.org/obo/UBERON_0005511 node CL_0002043 CD34-positive, CD38-negative multipotent progenitor cell Cell markers are associated with human hematopoietic multipotent progenitor cells. http://purl.obolibrary.org/obo/CL_0002043 node MONDO_0032941 myopia 27 null http://purl.obolibrary.org/obo/MONDO_0032941 node MONDO_0003252 granular cell cancer null http://purl.obolibrary.org/obo/MONDO_0003252 node Orphanet_2319 Juberg-Hayward syndrome null http://www.orpha.net/ORDO/Orphanet_2319 node EFO_0009854 treatment resistant depression null http://www.ebi.ac.uk/efo/EFO_0009854 node Orphanet_294967 Amelia of upper limb null http://www.orpha.net/ORDO/Orphanet_294967 node EFO_0009667 eustachian tube disease null http://www.ebi.ac.uk/efo/EFO_0009667 node EFO_0002814 AZ-521 null http://www.ebi.ac.uk/efo/EFO_0002814 node UBERON_2005103 presumptive ventral fin fold null http://purl.obolibrary.org/obo/UBERON_2005103 node MONDO_0013302 nephronophthisis 11 null http://purl.obolibrary.org/obo/MONDO_0013302 node EFO_0007181 bovine virus diarrhea-mucosal disease null http://www.ebi.ac.uk/efo/EFO_0007181 node EFO_0008023 angiopoietin-1 receptor, soluble measurement null http://www.ebi.ac.uk/efo/EFO_0008023 node CL_0002108 CD38-negative IgG memory B cell null http://purl.obolibrary.org/obo/CL_0002108 node CHEBI_64446 phosphatidylcholine 38:3 null http://purl.obolibrary.org/obo/CHEBI_64446 node Orphanet_990 Agnathia - holoprosencephaly - situs inversus null http://www.orpha.net/ORDO/Orphanet_990 node Orphanet_101075 X-linked Charcot-Marie-Tooth disease type 1 null http://www.orpha.net/ORDO/Orphanet_101075 node GO_0050913 sensory perception of bitter taste null http://purl.obolibrary.org/obo/GO_0050913 node UBERON_0001464 hip null http://purl.obolibrary.org/obo/UBERON_0001464 node EFO_0008914 scRRBS null http://www.ebi.ac.uk/efo/EFO_0008914 node CHEBI_34440 4-nonylphenol null http://purl.obolibrary.org/obo/CHEBI_34440 node MONDO_0007056 acroosteolysis null http://purl.obolibrary.org/obo/MONDO_0007056 node EFO_0008727 Duplex-Seq null http://www.ebi.ac.uk/efo/EFO_0008727 node EFO_0002902 milligram per kilogram null http://www.ebi.ac.uk/efo/EFO_0002902 node PO_0000056 flower bud null http://purl.obolibrary.org/obo/PO_0000056 node Orphanet_156207 Macroglossia null http://www.orpha.net/ORDO/Orphanet_156207 node MONDO_0000255 subcutaneous mycosis null http://purl.obolibrary.org/obo/MONDO_0000255 node EFO_0007064 cell cycle phase null http://www.ebi.ac.uk/efo/EFO_0007064 node CHEBI_64053 4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate null http://purl.obolibrary.org/obo/CHEBI_64053 node EFO_0002715 PancTUI null http://www.ebi.ac.uk/efo/EFO_0002715 node EFO_0008111 diet measurement null http://www.ebi.ac.uk/efo/EFO_0008111 node MONDO_0049221 myopia 26, X-linked, female-limited null http://purl.obolibrary.org/obo/MONDO_0049221 node EFO_0007009 skin pigmentation measurement null http://www.ebi.ac.uk/efo/EFO_0007009 node HP_0005709 2-3 toe cutaneous syndactyly null http://purl.obolibrary.org/obo/HP_0005709 node CHEBI_85871 triacylglycerol 48:3 null http://purl.obolibrary.org/obo/CHEBI_85871 node Orphanet_101000 Autosomal recessive spastic paraplegia type 20 null http://www.orpha.net/ORDO/Orphanet_101000 node Orphanet_36387 Generalized epilepsy with febrile seizures-plus null http://www.orpha.net/ORDO/Orphanet_36387 node EFO_1000865 choledocholithiasis null http://www.ebi.ac.uk/efo/EFO_1000865 node EFO_0008334 TpTe measurement null http://www.ebi.ac.uk/efo/EFO_0008334 node UBERON_0001950 neocortex null http://purl.obolibrary.org/obo/UBERON_0001950 node EFO_0008815 MiR‐CLIP null http://www.ebi.ac.uk/efo/EFO_0008815 node NCBITaxon_38766 Lagos bat virus null http://purl.obolibrary.org/obo/NCBITaxon_38766 node MONDO_0002036 penile disease null http://purl.obolibrary.org/obo/MONDO_0002036 node NCBITaxon_45219 Guanarito virus null http://purl.obolibrary.org/obo/NCBITaxon_45219 node EFO_0001275 mating type a null http://www.ebi.ac.uk/efo/EFO_0001275 node EFO_0002322 RPMI8226 null http://www.ebi.ac.uk/efo/EFO_0002322 node Orphanet_93599 Primary hyperoxaluria type 2 null http://www.orpha.net/ORDO/Orphanet_93599 node MONDO_0021545 myomatous neoplasm null http://purl.obolibrary.org/obo/MONDO_0021545 node NCBITaxon_28377 Anolis carolinensis null http://purl.obolibrary.org/obo/NCBITaxon_28377 node CHEBI_53109 Bandrowski's base null http://purl.obolibrary.org/obo/CHEBI_53109 node Orphanet_369902 Orofaciodigital syndrome type 14 null http://www.orpha.net/ORDO/Orphanet_369902 node Orphanet_2475 White forelock with malformations null http://www.orpha.net/ORDO/Orphanet_2475 node NCBITaxon_226186 Bacteroides thetaiotaomicron VPI-5482 null http://purl.obolibrary.org/obo/NCBITaxon_226186 node Orphanet_3317 Thoracolaryngopelvic dysplasia null http://www.orpha.net/ORDO/Orphanet_3317 node MONDO_0004669 salivary gland cancer null http://purl.obolibrary.org/obo/MONDO_0004669 node EFO_1000953 gonadal tissue neoplasm null http://www.ebi.ac.uk/efo/EFO_1000953 node UBERON_2001471 posterior lateral line system null http://purl.obolibrary.org/obo/UBERON_2001471 node EFO_0008422 susceptibility to infectious disease measurement null http://www.ebi.ac.uk/efo/EFO_0008422 node EFO_0000424 obsolete_dorsal ridge null http://www.ebi.ac.uk/efo/EFO_0000424 node Orphanet_33110 Autosomal agammaglobulinemia null http://www.orpha.net/ORDO/Orphanet_33110 node Orphanet_88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis null http://www.orpha.net/ORDO/Orphanet_88924 node EFO_1001105 pigmented spindle cell nevus null http://www.ebi.ac.uk/efo/EFO_1001105 node EFO_0000237 obsolete_adrenal cortex null http://www.ebi.ac.uk/efo/EFO_0000237 node EFO_0001363 obsolete_inner ear structure null http://www.ebi.ac.uk/efo/EFO_0001363 node EFO_0005535 specimen vial null http://www.ebi.ac.uk/efo/EFO_0005535 node EFO_0004608 cystic fibrosis associated meconium ileus null http://www.ebi.ac.uk/efo/EFO_0004608 node MONDO_0021633 cerebral astrocytoma null http://purl.obolibrary.org/obo/MONDO_0021633 node EFO_0000718 exposure temperature null http://www.ebi.ac.uk/efo/EFO_0000718 node MONDO_0018798 other genetic dermis disorder Editor note: consider obsoleting http://purl.obolibrary.org/obo/MONDO_0018798 node Orphanet_3405 Umbilical cord ulceration - intestinal atresia null http://www.orpha.net/ORDO/Orphanet_3405 node Orphanet_171680 Lissencephaly due to TUBA1A mutation null http://www.orpha.net/ORDO/Orphanet_171680 node EFO_1001807 malacoplakia null http://www.ebi.ac.uk/efo/EFO_1001807 node EFO_0003858 skeleton structure null http://www.ebi.ac.uk/efo/EFO_0003858 node EFO_0010933 response to dexamethasone null http://www.ebi.ac.uk/efo/EFO_0010933 node EFO_0003900 ciliopathy null http://www.ebi.ac.uk/efo/EFO_0003900 node Orphanet_1178 Ataxia - tapetoretinal degeneration null http://www.orpha.net/ORDO/Orphanet_1178 node HP_0011924 Decreased activity of mitochondrial complex III null http://purl.obolibrary.org/obo/HP_0011924 node CL_0000831 mast cell progenitor MCP are CD16-positive, CD32-positive, CD34-positive, CD45-positive, integrin beta-7-positive, and lin-negative (CD2, CD3e, CD4, CD5, CD8a, CD14, CD19, CD20, CD27, integrin alpha-M, ly6c, ly6g, NCAM-1, and ter119). These cells also express the transcription factors GATA-1, GATA-2, and MITF, but not C/EBPa. http://purl.obolibrary.org/obo/CL_0000831 node EFO_0000325 cellular modification null http://www.ebi.ac.uk/efo/EFO_0000325 node EFO_0005623 distal colitis null http://www.ebi.ac.uk/efo/EFO_0005623 node EFO_0000806 obsolete_skeletal system null http://www.ebi.ac.uk/efo/EFO_0000806 node EFO_1001006 Klinefelter's syndrome null http://www.ebi.ac.uk/efo/EFO_1001006 node CHEBI_8069 phenobarbital null http://purl.obolibrary.org/obo/CHEBI_8069 node CL_0000644 Bergmann glial cell null http://purl.obolibrary.org/obo/CL_0000644 node EFO_0004519 soluble P-selectin measurement null http://www.ebi.ac.uk/efo/EFO_0004519 node EFO_0005436 array control genomic DNA null http://www.ebi.ac.uk/efo/EFO_0005436 node Orphanet_404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency null http://www.orpha.net/ORDO/Orphanet_404499 node EFO_0005844 response to dietary antigen null http://www.ebi.ac.uk/efo/EFO_0005844 node EFO_0010464 beta-aminoisobutyric acid measurement null http://www.ebi.ac.uk/efo/EFO_0010464 node Orphanet_319509 Combined oxidative phosphorylation defect type 9 null http://www.orpha.net/ORDO/Orphanet_319509 node EFO_0003946 obsolete_Fuchs' endothelial dystrophy null http://www.ebi.ac.uk/efo/EFO_0003946 node EFO_0006792 Lewy body dementia null http://www.ebi.ac.uk/efo/EFO_0006792 node EFO_0007588 Triticum aestivum cv. Chinese Spring null http://www.ebi.ac.uk/efo/EFO_0007588 node UBERON_0004086 brain ventricle null http://purl.obolibrary.org/obo/UBERON_0004086 node Orphanet_2593 Tubular aggregate myopathy null http://www.orpha.net/ORDO/Orphanet_2593 node CHEBI_49553 copper(II) chloride null http://purl.obolibrary.org/obo/CHEBI_49553 node Orphanet_1266 Dermato-cardio-skeletal syndrome, Borrone type null http://www.orpha.net/ORDO/Orphanet_1266 node HP_0001626 Abnormality of the cardiovascular system The cardiovascular system consists of the heart, vasculature, and the lymphatic system. http://purl.obolibrary.org/obo/HP_0001626 node Orphanet_1851 Multicystic dysplastic kidney null http://www.orpha.net/ORDO/Orphanet_1851 node EFO_1002021 ankle injury null http://www.ebi.ac.uk/efo/EFO_1002021 node Orphanet_53697 Gnathodiaphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_53697 node PO_0009074 style If you are annotating to this structure for Zea mays or other grasses, please also add an annotation to the corresponding floret type. Choose the most specific term possible from: spikelet floret (PO:0009082), ear floret (PO:0006354), upper floret of pedicellate spikelet of ear (PO:0006350), upper floret of sessile spikelet of ear (PO:0006352), tassel floret (PO:0006310), upper floret of pedicellate spikelet of tassel (PO:0006314), upper floret of sessile spikelet of tassel (PO:0006316). http://purl.obolibrary.org/obo/PO_0009074 node EFO_0005932 animal disease null http://www.ebi.ac.uk/efo/EFO_0005932 node EFO_0010552 social environment measurement null http://www.ebi.ac.uk/efo/EFO_0010552 node HP_0012470 Setting-sun eye phenomenon Setting-sun eye phenomenon can also be transiently elicited in healthy infants up to 7 months of age by changes of position or removal of light (benign setting-sun phenomenon). When persistent, this sign is one of the most frequent markers of elevated intracranial pressure. http://purl.obolibrary.org/obo/HP_0012470 node Orphanet_254871 Mitochondrial DNA depletion syndrome, hepatocerebral form Editor note: consider merging with MONDO:0014943 http://www.orpha.net/ORDO/Orphanet_254871 node EFO_0007676 response to zileuton null http://www.ebi.ac.uk/efo/EFO_0007676 node HP_0045059 Hyperkeratotic papule null http://purl.obolibrary.org/obo/HP_0045059 node EFO_0008591 free cholesterol measurement null http://www.ebi.ac.uk/efo/EFO_0008591 node MONDO_0100133 mitochondrial complex I deficiency null http://purl.obolibrary.org/obo/MONDO_0100133 node FBbt_00005571 embryonic tracheole null http://purl.obolibrary.org/obo/FBbt_00005571 node MONDO_0001378 urachus cancer null http://purl.obolibrary.org/obo/MONDO_0001378 node EFO_0007489 sphenoid sinusitis null http://www.ebi.ac.uk/efo/EFO_0007489 node PATO_0001422 dead null http://purl.obolibrary.org/obo/PATO_0001422 node NCBITaxon_47506 Human echovirus 18 null http://purl.obolibrary.org/obo/NCBITaxon_47506 node EFO_0007734 SPRET/EiJ null http://www.ebi.ac.uk/efo/EFO_0007734 node EFO_0006807 linoleic acid measurement null http://www.ebi.ac.uk/efo/EFO_0006807 node MONDO_0018271 peripheral primitive neuroectodermal tumor null http://purl.obolibrary.org/obo/MONDO_0018271 node MONDO_0001162 impulse control disorder null http://purl.obolibrary.org/obo/MONDO_0001162 node EFO_0009457 abnormal vascular wound healing null http://www.ebi.ac.uk/efo/EFO_0009457 node EFO_0006736 PK-59 null http://www.ebi.ac.uk/efo/EFO_0006736 node CL_0002120 CD24-positive CD38-negative IgG-negative class switched memory B cell null http://purl.obolibrary.org/obo/CL_0002120 node EFO_0006549 CaSki null http://www.ebi.ac.uk/efo/EFO_0006549 node Orphanet_401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type null http://www.orpha.net/ORDO/Orphanet_401979 node UBERON_0006865 metaphysis of femur null http://purl.obolibrary.org/obo/UBERON_0006865 node CL_0002448 Ly49H-negative natural killer cell, mouse null http://purl.obolibrary.org/obo/CL_0002448 node EFO_0002872 WE-68 null http://www.ebi.ac.uk/efo/EFO_0002872 node EFO_0007822 hair colour measurement null http://www.ebi.ac.uk/efo/EFO_0007822 node EFO_0006343 chronic periodontitis null http://www.ebi.ac.uk/efo/EFO_0006343 node CHEBI_22152 abscisic acid null http://purl.obolibrary.org/obo/CHEBI_22152 node EFO_1001889 flying phobia null http://www.ebi.ac.uk/efo/EFO_1001889 node Orphanet_79361 Inherited epidermolysis bullosa null http://www.orpha.net/ORDO/Orphanet_79361 node MONDO_0024500 duodenal neuroendocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0024500 node EFO_0009358 Anti-hepatitis B virus surface antigen IgG measurement null http://www.ebi.ac.uk/efo/EFO_0009358 node EFO_0006637 LN-229 null http://www.ebi.ac.uk/efo/EFO_0006637 node Orphanet_79665 Gardner syndrome null http://www.orpha.net/ORDO/Orphanet_79665 node Orphanet_681 Hypokalemic periodic paralysis null http://www.orpha.net/ORDO/Orphanet_681 node EFO_0000992 shoot null http://www.ebi.ac.uk/efo/EFO_0000992 node Orphanet_79478 Griscelli disease type 3 null http://www.orpha.net/ORDO/Orphanet_79478 node EFO_1001496 Autosomal dominant polycystic kidney disease null http://www.ebi.ac.uk/efo/EFO_1001496 node EFO_0004999 N-glycan measurement null http://www.ebi.ac.uk/efo/EFO_0004999 node Orphanet_79244 Pyruvate dehydrogenase E2 deficiency null http://www.orpha.net/ORDO/Orphanet_79244 node MONDO_0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies null http://purl.obolibrary.org/obo/MONDO_0032943 node Orphanet_324290 Early-onset Lafora body disease null http://www.orpha.net/ORDO/Orphanet_324290 node EFO_0003357 obsolete_proventriculus primordium null http://www.ebi.ac.uk/efo/EFO_0003357 node Orphanet_98971 Posterior amorphous corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98971 node MONDO_0014807 spinal muscular atrophy with congenital bone fractures 2 null http://purl.obolibrary.org/obo/MONDO_0014807 node EFO_0009047 Hyperpigmentation of the skin null http://www.ebi.ac.uk/efo/EFO_0009047 node EFO_0008025 angiotensinogen measurement null http://www.ebi.ac.uk/efo/EFO_0008025 node EFO_0008506 hyperparathyroidism Hyperparathyroidism is an increased parathyroid hormone levels in the blood. http://www.ebi.ac.uk/efo/EFO_0008506 node CHEBI_84415 acetyltaurine null http://purl.obolibrary.org/obo/CHEBI_84415 node Orphanet_93299 Achondrogenesis type 1A null http://www.orpha.net/ORDO/Orphanet_93299 node EFO_0003445 obsolete_posterior lateral line placode null http://www.ebi.ac.uk/efo/EFO_0003445 node CHEBI_72736 lysophosphatidylcholine 15:0 null http://purl.obolibrary.org/obo/CHEBI_72736 node CL_0001016 immature CD1a-positive Langerhans cell Originally described in the dendritic cell ontology (DC_CL:0000028)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001016 node Orphanet_93951 X-linked dominant intellectual disability - epilepsy syndrome null http://www.orpha.net/ORDO/Orphanet_93951 node Orphanet_3008 Pyruvate carboxylase deficiency null http://www.orpha.net/ORDO/Orphanet_3008 node Orphanet_275872 Frontotemporal dementia with motor neuron disease null http://www.orpha.net/ORDO/Orphanet_275872 node NCBITaxon_198431 uncultured prokaryote null http://purl.obolibrary.org/obo/NCBITaxon_198431 node EFO_1000163 Cervical Clear Cell Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000163 node Orphanet_98714 Metabolic disease with macular cherry-red spot null http://www.orpha.net/ORDO/Orphanet_98714 node EFO_1000644 newborn respiratory distress syndrome null http://www.ebi.ac.uk/efo/EFO_1000644 node EFO_0010699 diffuse plaque measurement null http://www.ebi.ac.uk/efo/EFO_0010699 node EFO_0003666 obsolete_renal tubule null http://www.ebi.ac.uk/efo/EFO_0003666 node Orphanet_278 Corticobasal degeneration null http://www.orpha.net/ORDO/Orphanet_278 node EFO_0008113 dual specificity mitogen-activated protein kinase kinase 4 measurement null http://www.ebi.ac.uk/efo/EFO_0008113 node EFO_0010260 global developmental delay with or without impaired intellectual development null http://www.ebi.ac.uk/efo/EFO_0010260 node EFO_0001768 obsolete_in vitro design null http://www.ebi.ac.uk/efo/EFO_0001768 node EFO_0010741 nasal brush null http://www.ebi.ac.uk/efo/EFO_0010741 node EFO_1000457 Parathyroid Hyperplasia null http://www.ebi.ac.uk/efo/EFO_1000457 node MONDO_0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade null http://purl.obolibrary.org/obo/MONDO_0015066 node HP_0002169 Clonus Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal. http://purl.obolibrary.org/obo/HP_0002169 node GO_0035456 response to interferon beta null http://purl.obolibrary.org/obo/GO_0035456 node Orphanet_93387 Brachydactyly type E null http://www.orpha.net/ORDO/Orphanet_93387 node PO_0005360 aleurone layer null http://purl.obolibrary.org/obo/PO_0005360 node UBERON_0000411 visual cortex The visual cortex is made up of Brodmann area 17 (the primary visual cortex), and Brodmann area 18 and Brodmann area 19, the extrastriate cortical areas. http://purl.obolibrary.org/obo/UBERON_0000411 node CHEBI_529996 cytochalasin D null http://purl.obolibrary.org/obo/CHEBI_529996 node EFO_0004295 left ventricular function null http://www.ebi.ac.uk/efo/EFO_0004295 node Orphanet_306708 Frontotemporal neurodegeneration with movement disorder null http://www.orpha.net/ORDO/Orphanet_306708 node EFO_1000251 Fallopian Tube Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000251 node Orphanet_366 Glycogen storage disease due to glycogen debranching enzyme deficiency null http://www.orpha.net/ORDO/Orphanet_366 node MP_0001845 inflammation null http://purl.obolibrary.org/obo/MP_0001845 node UBERON_0001155 colon null http://purl.obolibrary.org/obo/UBERON_0001155 node EFO_0003754 EST sequencing null http://www.ebi.ac.uk/efo/EFO_0003754 node HP_0001026 Penetrating foot ulcers null http://purl.obolibrary.org/obo/HP_0001026 node Orphanet_231140 Silver-Russell syndrome due to imprinting defect of 11p15 null http://www.orpha.net/ORDO/Orphanet_231140 node CHEBI_35610 antineoplastic agent null http://purl.obolibrary.org/obo/CHEBI_35610 node EFO_1000064 Acinar Prostate Adenocarcinoma, Foamy Gland Variant null http://www.ebi.ac.uk/efo/EFO_1000064 node MONDO_0016125 infectious, fungal or parasitic myopathy null http://purl.obolibrary.org/obo/MONDO_0016125 node EFO_1000545 Spinal Cord Primitive Neuroectodermal Tumor null http://www.ebi.ac.uk/efo/EFO_1000545 node Orphanet_261494 Kleefstra syndrome null http://www.orpha.net/ORDO/Orphanet_261494 node EFO_0000016 CS57563 null http://www.ebi.ac.uk/efo/EFO_0000016 node Orphanet_1530 Craniosynostosis - cataract null http://www.orpha.net/ORDO/Orphanet_1530 node EFO_0010642 Neurodevelopmental disorder null http://www.ebi.ac.uk/efo/EFO_0010642 node NCBITaxon_29459 Brucella melitensis null http://purl.obolibrary.org/obo/NCBITaxon_29459 node CHEBI_78737 fructose 1-phosphate null http://purl.obolibrary.org/obo/CHEBI_78737 node FBbt_00004011 insulin secreting cell of pars intercerebralis Insulin-producing cells are found amongst the median neurosecretory cells, but not all mNSCs are IPCs (FlyBase:FBrf0212696), despite misleading phrasing in some articles (e.g. FlyBase:FBrf0184236). http://purl.obolibrary.org/obo/FBbt_00004011 node EFO_0001008 obsolete_rhizome null http://www.ebi.ac.uk/efo/EFO_0001008 node Orphanet_90 Argininemia null http://www.orpha.net/ORDO/Orphanet_90 node EFO_0005127 cancer biomarker measurement null http://www.ebi.ac.uk/efo/EFO_0005127 node EFO_1000229 Eccrine Porocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000229 node MONDO_0015856 syndromic breast hypoplasia/aplasia null http://purl.obolibrary.org/obo/MONDO_0015856 node Orphanet_178382 Congenital vertical talus null http://www.orpha.net/ORDO/Orphanet_178382 node MONDO_0021635 neurocristopathy null http://purl.obolibrary.org/obo/MONDO_0021635 node EFO_0010231 sterol measurement null http://www.ebi.ac.uk/efo/EFO_0010231 node MONDO_0016093 borderline epithelial tumor of ovary null http://purl.obolibrary.org/obo/MONDO_0016093 node Orphanet_183625 Rare genetic diabetes mellitus null http://www.orpha.net/ORDO/Orphanet_183625 node EFO_0009504 crush injury null http://www.ebi.ac.uk/efo/EFO_0009504 node CHEBI_30614 benzo(a)pyrene diolepoxide 1 null http://purl.obolibrary.org/obo/CHEBI_30614 node UBERON_0001056 corpus cardiacum will be ceded to arthropod anatomy ontology http://purl.obolibrary.org/obo/UBERON_0001056 node Orphanet_211067 Episodic ataxia type 5 null http://www.orpha.net/ORDO/Orphanet_211067 node EFO_0002200 HT null http://www.ebi.ac.uk/efo/EFO_0002200 node MONDO_0054781 combined oxidative phosphorylation deficiency 36 null http://purl.obolibrary.org/obo/MONDO_0054781 node Orphanet_295093 Congenital absence of both forearm and hand, unilateral null http://www.orpha.net/ORDO/Orphanet_295093 node Orphanet_397922 Ferro-cerebro-cutaneous syndrome null http://www.orpha.net/ORDO/Orphanet_397922 node EFO_0005215 breast adenocarcinoma cell line null http://www.ebi.ac.uk/efo/EFO_0005215 node EFO_1000317 Lacrimal Gland Adenoid Cystic Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000317 node PO_0007042 whole plant fruit formation stage This term is to be used for a stage of development of a whole plant (PO:0000003). For the stages of development of an individual fruit, see fruit development stage (PO:0001002). An iteroparous plant will only have one fruit formation stage in its life, while a semelparous plant may have multiple whole plant fruit formation stages during its life. In plants with continuous (i.e., indeterminate) fruit development (GO:0010154), new fruits may continue to develop after the first fruit has begun to ripen and the fruit ripening stage of whole plant (PO:0007042) has begun. Although the use of synonyms like "07-milk stage in rice" properly refer to the development of an individual fruits, they are used as here to extrapolate to a whole plant. http://purl.obolibrary.org/obo/PO_0007042 node Orphanet_307067 Rare genetic disease with myoclonus as a major feature null http://www.orpha.net/ORDO/Orphanet_307067 node EFO_1000715 impetigo herpetiformis null http://www.ebi.ac.uk/efo/EFO_1000715 node MONDO_0019586 X-linked nonsyndromic deafness ORDO classification not correct: https://github.com/monarch-initiative/monarch-disease-ontology/issues/408 http://purl.obolibrary.org/obo/MONDO_0019586 node EFO_0005591 sweat gland carcinoma null http://www.ebi.ac.uk/efo/EFO_0005591 node Orphanet_183713 Pyogenic bacterial infections due to MyD88 deficiency null http://www.orpha.net/ORDO/Orphanet_183713 node EFO_0007991 eosinophil percentage of leukocytes null http://www.ebi.ac.uk/efo/EFO_0007991 node Orphanet_2015 Cleft palate - short stature - vertebral anomalies null http://www.orpha.net/ORDO/Orphanet_2015 node Orphanet_169163 Familial scaphocephaly syndrome null http://www.orpha.net/ORDO/Orphanet_169163 node EFO_0003050 large cell lung carcinoma null http://www.ebi.ac.uk/efo/EFO_0003050 node EFO_0002101 A172 null http://www.ebi.ac.uk/efo/EFO_0002101 node Orphanet_370927 SSR4-CDG null http://www.orpha.net/ORDO/Orphanet_370927 node CHEBI_16240 hydrogen peroxide null http://purl.obolibrary.org/obo/CHEBI_16240 node HP_0012758 Neurodevelopmental delay null http://purl.obolibrary.org/obo/HP_0012758 node MONDO_0001543 lesion of sciatic nerve null http://purl.obolibrary.org/obo/MONDO_0001543 node PO_0025001 cardinal organ part Cardinal refers to the fact that these are biologically meaningful and not arbitrary parts. Examples include petiole (PO:0020038), lamina (PO:0025060), and leaflet (PO:0020049). See also collective organ part structure (PO:0025269), for plant structures composed of parts of multiple organs. http://purl.obolibrary.org/obo/PO_0025001 node MONDO_0001941 blindness (disorder) null http://purl.obolibrary.org/obo/MONDO_0001941 node EFO_0006494 SU.86.86 null http://www.ebi.ac.uk/efo/EFO_0006494 node CL_0000579 border follicle cell null http://purl.obolibrary.org/obo/CL_0000579 node EFO_0000172 obsolete_Daudi Burkitt's lymphoma cell line obsolete_Daudi Burkitt's lymphoma cell line http://www.ebi.ac.uk/efo/EFO_0000172 node Orphanet_207094 Qualitative or quantitative defects of merosin null http://www.orpha.net/ORDO/Orphanet_207094 node EFO_0007268 fascioloidiasis null http://www.ebi.ac.uk/efo/EFO_0007268 node MONDO_0022410 retinal ciliopathy null http://purl.obolibrary.org/obo/MONDO_0022410 node CHEBI_37156 maleate (-1) null http://purl.obolibrary.org/obo/CHEBI_37156 node Orphanet_86814 Benign adult familial myoclonic epilepsy null http://www.orpha.net/ORDO/Orphanet_86814 node GO_0042110 T cell activation null http://purl.obolibrary.org/obo/GO_0042110 node MONDO_0004126 thyroiditis (disease) null http://purl.obolibrary.org/obo/MONDO_0004126 node Orphanet_98562 Cryptophthalmia null http://www.orpha.net/ORDO/Orphanet_98562 node NCBITaxon_529 Ochrobactrum anthropi null http://purl.obolibrary.org/obo/NCBITaxon_529 node MONDO_0008939 isolated cerebellar hypoplasia/agenesis null http://purl.obolibrary.org/obo/MONDO_0008939 node MONDO_0013731 MEGF10-Related Myopathy null http://purl.obolibrary.org/obo/MONDO_0013731 node CHEBI_5296 gemfibrozil null http://purl.obolibrary.org/obo/CHEBI_5296 node EFO_0008758 GT-seq null http://www.ebi.ac.uk/efo/EFO_0008758 node EFO_0001957 obsolete_knee joint null http://www.ebi.ac.uk/efo/EFO_0001957 node EFO_0001267 obsolete_hermaphrodite null http://www.ebi.ac.uk/efo/EFO_0001267 node EFO_0000683 replicate null http://www.ebi.ac.uk/efo/EFO_0000683 node HP_0002943 Thoracic scoliosis null http://purl.obolibrary.org/obo/HP_0002943 node EFO_0008540 helping behaviour null http://www.ebi.ac.uk/efo/EFO_0008540 node MONDO_0002244 factor VII deficiency null http://purl.obolibrary.org/obo/MONDO_0002244 node Orphanet_268384 Thoracolumbosacral spina bifida aperta null http://www.orpha.net/ORDO/Orphanet_268384 node EFO_0008846 PARE-Seq null http://www.ebi.ac.uk/efo/EFO_0008846 node MONDO_0002708 retinitis null http://purl.obolibrary.org/obo/MONDO_0002708 node GO_0051186 cofactor metabolic process null http://purl.obolibrary.org/obo/GO_0051186 node EFO_0008659 Break-seq null http://www.ebi.ac.uk/efo/EFO_0008659 node PO_0000037 shoot apex The terminal bud (0.1 - 1.0 mm) of a plant, which consists of the apical meristem (0.05 - 0.1 mm) and the immediate surrounding leaf primordia and developing leaves and adjacent stem tissue. http://purl.obolibrary.org/obo/PO_0000037 node EFO_0002680 urocortin II null http://www.ebi.ac.uk/efo/EFO_0002680 node Orphanet_79118 Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys null http://www.orpha.net/ORDO/Orphanet_79118 node EFO_0009219 Hemoglobin F to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009219 node CHEBI_48873 cholinergic antagonist null http://purl.obolibrary.org/obo/CHEBI_48873 node EFO_1000797 adrenal gland hyperfunction Editor note: consider obsoleting as is phenotypic feature http://www.ebi.ac.uk/efo/EFO_1000797 node HP_0000360 Tinnitus null http://purl.obolibrary.org/obo/HP_0000360 node CLO_0013835 GM17204 null http://purl.obolibrary.org/obo/CLO_0013835 node PO_0000258 root cortex null http://purl.obolibrary.org/obo/PO_0000258 node EFO_0008193 interstitial collagenase measurement null http://www.ebi.ac.uk/efo/EFO_0008193 node HP_0001591 Bell-shaped thorax A bell-shaped thorax is a non-specific finding. In newborns, bell-spahed thorax can indicate a history of intrauterine neuromuscular abnormalities. http://purl.obolibrary.org/obo/HP_0001591 node Orphanet_357506 Genetic non-syndromic renal or urinary tract malformation null http://www.orpha.net/ORDO/Orphanet_357506 node Orphanet_385 Neurodegeneration with brain iron accumulation Editor note: check relationship to PKAN http://www.orpha.net/ORDO/Orphanet_385 node CHEBI_85868 triacylglycerol 46:0 null http://purl.obolibrary.org/obo/CHEBI_85868 node EFO_0009307 glycated albumin measurement null http://www.ebi.ac.uk/efo/EFO_0009307 node EFO_0003610 obsolete_slow muscle cell somite 10 null http://www.ebi.ac.uk/efo/EFO_0003610 node EFO_0007513 Togaviridae infectious disease null http://www.ebi.ac.uk/efo/EFO_0007513 node EFO_0002591 erythrocytic schizont null http://www.ebi.ac.uk/efo/EFO_0002591 node EFO_0002506 osteoarthritis null http://www.ebi.ac.uk/efo/EFO_0002506 node EFO_0006409 G59 null http://www.ebi.ac.uk/efo/EFO_0006409 node EFO_0001020 obsolete_endosperm null http://www.ebi.ac.uk/efo/EFO_0001020 node EFO_0007326 infectious mononucleosis null http://www.ebi.ac.uk/efo/EFO_0007326 node EFO_0009049 Juvenile nephropathic cystinosis null http://www.ebi.ac.uk/efo/EFO_0009049 node EFO_0003831 obsolete_chromosome disorder null http://www.ebi.ac.uk/efo/EFO_0003831 node EFO_0006983 Antwerpen ecotype null http://www.ebi.ac.uk/efo/EFO_0006983 node HP_0004308 Ventricular arrhythmia null http://purl.obolibrary.org/obo/HP_0004308 node EFO_0000577 obsolete_material type redundant now and is synonymous to material entity http://www.ebi.ac.uk/efo/EFO_0000577 node BTO_0002217 culture supernatant null http://purl.obolibrary.org/obo/BTO_0002217 node EFO_1001258 Adenomatosis, Pulmonary null http://www.ebi.ac.uk/efo/EFO_1001258 node Orphanet_93404 Syndactyly type 3 null http://www.orpha.net/ORDO/Orphanet_93404 node Orphanet_1479 Atrial septal defect - atrioventricular conduction defects null http://www.orpha.net/ORDO/Orphanet_1479 node EFO_1001187 somatostatinoma null http://www.ebi.ac.uk/efo/EFO_1001187 node EFO_0008363 gamma-linoleic acid measurement null http://www.ebi.ac.uk/efo/EFO_0008363 node CHEBI_4657 disopyramide null http://purl.obolibrary.org/obo/CHEBI_4657 node EFO_0007414 ostertagiasis null http://www.ebi.ac.uk/efo/EFO_0007414 node CHEBI_50148 fenpropimorph null http://purl.obolibrary.org/obo/CHEBI_50148 node CL_0000945 lymphocyte of B lineage Types of B lineage lymphocytes include B cells and antibody secreting cells (plasmablasts and plasma cells). Lymphocytes of B cell lineage can be distinguished from those of T cell lineage by their lack of CD3e (as part of the T cell receptor complex). http://purl.obolibrary.org/obo/CL_0000945 node Orphanet_531 Miller-Dieker syndrome null http://www.orpha.net/ORDO/Orphanet_531 node Orphanet_369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C null http://www.orpha.net/ORDO/Orphanet_369867 node Orphanet_859 Transcobalamin deficiency null http://www.orpha.net/ORDO/Orphanet_859 node GO_1902522 response to epirubicin null http://purl.obolibrary.org/obo/GO_1902522 node NCBITaxon_220341 Salmonella enterica subsp. enterica serovar Typhi str. CT18 null http://purl.obolibrary.org/obo/NCBITaxon_220341 node Orphanet_1947 Progressive epilepsy - intellectual disability, Finnish type null http://www.orpha.net/ORDO/Orphanet_1947 node NCBITaxon_4543 Cenchrus americanus null http://purl.obolibrary.org/obo/NCBITaxon_4543 node EFO_0008451 activities of daily living score measurement null http://www.ebi.ac.uk/efo/EFO_0008451 node CL_0000552 orthochromatic erythroblast null http://purl.obolibrary.org/obo/CL_0000552 node EFO_0004297 clinical laboratory measurement null http://www.ebi.ac.uk/efo/EFO_0004297 node CHEBI_86094 1-tetradecanoyl-2-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_86094 node UBERON_0001228 renal papilla null http://purl.obolibrary.org/obo/UBERON_0001228 node CL_0000828 thromboblast Note that this is a non-mammalian cell type. http://purl.obolibrary.org/obo/CL_0000828 node EFO_1001088 pars planitis null http://www.ebi.ac.uk/efo/EFO_1001088 node EFO_0004134 tumor size null http://www.ebi.ac.uk/efo/EFO_0004134 node NCBITaxon_43696 Chara corallina null http://purl.obolibrary.org/obo/NCBITaxon_43696 node Orphanet_248340 Isolated delta-storage pool disease null http://www.orpha.net/ORDO/Orphanet_248340 node Orphanet_391311 Susceptibility to viral and mycobacterial infections null http://www.orpha.net/ORDO/Orphanet_391311 node Orphanet_295177 Preaxial polydactyly of toes, bilateral null http://www.orpha.net/ORDO/Orphanet_295177 node EFO_1000406 Odontogenic Cyst null http://www.ebi.ac.uk/efo/EFO_1000406 node HP_0007686 Abnormal pupillary function It is preferable to describe the functional defect precisely. http://purl.obolibrary.org/obo/HP_0007686 node MONDO_0016399 amino acid or protein metabolism disease with epilepsy null http://purl.obolibrary.org/obo/MONDO_0016399 node EFO_0010503 inosine measurement null http://www.ebi.ac.uk/efo/EFO_0010503 node Orphanet_29 Mevalonic aciduria null http://www.orpha.net/ORDO/Orphanet_29 node Orphanet_262758 Partial duplication of the short arm of chromosome 8 null http://www.orpha.net/ORDO/Orphanet_262758 node Orphanet_1848 Bilateral renal agenesis null http://www.orpha.net/ORDO/Orphanet_1848 node EFO_0004222 obsolete_astigmatism null http://www.ebi.ac.uk/efo/EFO_0004222 node MONDO_0019751 autoinflammatory syndrome Editor note: todo - investigate diseases that have autoinflammatory and autommune components, e.g. IBD, Ankylosing Spondylitis, Axial Spondyloarthropathy, perhaps adult Onset Still's Disease. Consider disjointness axiom http://purl.obolibrary.org/obo/MONDO_0019751 node HP_0100523 Liver abscess null http://purl.obolibrary.org/obo/HP_0100523 node HP_0025116 Fetal distress Fetal distress in itself is a non-specific term as the various parameters characterizing the type and degree of distress are themselves ill defined. Nonethless the term is in broad clinical use and thus is included as an HPO term. It is preferable to annotate with more precise terms if possible. http://purl.obolibrary.org/obo/HP_0025116 node HP_0010931 Abnormal blood sodium concentration null http://purl.obolibrary.org/obo/HP_0010931 node EFO_0004035 mating type F minus null http://www.ebi.ac.uk/efo/EFO_0004035 node Orphanet_98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies null http://www.orpha.net/ORDO/Orphanet_98370 node EFO_1000013 Prinzmetal's angina Potentially caused by mutations in smooth muscle K+ channel.nA syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). http://www.ebi.ac.uk/efo/EFO_1000013 node EFO_0000730 undifferentiated sarcoma null http://www.ebi.ac.uk/efo/EFO_0000730 node HP_0000765 Abnormal thorax morphology null http://purl.obolibrary.org/obo/HP_0000765 node EFO_0004443 material supplier null http://www.ebi.ac.uk/efo/EFO_0004443 node EFO_0003516 obsolete_pectoral fin cartilage null http://www.ebi.ac.uk/efo/EFO_0003516 node CL_0002421 nucleated reticulocyte null http://purl.obolibrary.org/obo/CL_0002421 node Orphanet_314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency null http://www.orpha.net/ORDO/Orphanet_314637 node EFO_0006668 NCI-H196 null http://www.ebi.ac.uk/efo/EFO_0006668 node MONDO_0037858 inherited fatty acid metabolism disorder null http://purl.obolibrary.org/obo/MONDO_0037858 node GO_0002526 acute inflammatory response null http://purl.obolibrary.org/obo/GO_0002526 node EFO_1002050 nephritis null http://www.ebi.ac.uk/efo/EFO_1002050 node EFO_0007993 lymphocyte percentage of leukocytes null http://www.ebi.ac.uk/efo/EFO_0007993 node EFO_0005072 array reporter null http://www.ebi.ac.uk/efo/EFO_0005072 node EFO_0007908 traffic air pollution measurement null http://www.ebi.ac.uk/efo/EFO_0007908 node EFO_1000101 Atypical Meningioma null http://www.ebi.ac.uk/efo/EFO_1000101 node EFO_0002986 ILSXISS50/TejJ null http://www.ebi.ac.uk/efo/EFO_0002986 node EFO_0006889 monoclonal B-cell lymphocytosis null http://www.ebi.ac.uk/efo/EFO_0006889 node HP_0001770 Toe syndactyly null http://purl.obolibrary.org/obo/HP_0001770 node HP_0000666 Horizontal nystagmus null http://purl.obolibrary.org/obo/HP_0000666 node CHEBI_28623 campesterol null http://purl.obolibrary.org/obo/CHEBI_28623 node MONDO_0000618 Her2-receptor negative breast cancer Editor note: check why not in NCIT; note also that triple-negative should be classified here http://purl.obolibrary.org/obo/MONDO_0000618 node EFO_0008923 SiMSen-Seq null http://www.ebi.ac.uk/efo/EFO_0008923 node EFO_0006496 TMD8 null http://www.ebi.ac.uk/efo/EFO_0006496 node EFO_0007819 advanced glycation end-product measurement null http://www.ebi.ac.uk/efo/EFO_0007819 node MONDO_0014274 L-ferritin deficiency null http://purl.obolibrary.org/obo/MONDO_0014274 node EFO_0007129 acute chest syndrome null http://www.ebi.ac.uk/efo/EFO_0007129 node EFO_0001432 obsolete_race null http://www.ebi.ac.uk/efo/EFO_0001432 node Orphanet_275864 Behavioral variant of frontotemporal dementia null http://www.orpha.net/ORDO/Orphanet_275864 node MONDO_0024582 male reproductive system neoplasm null http://purl.obolibrary.org/obo/MONDO_0024582 node EFO_0009299 marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections null http://www.ebi.ac.uk/efo/EFO_0009299 node EFO_0010326 precuneus cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010326 node FBbt_00005535 foregut primordium null http://purl.obolibrary.org/obo/FBbt_00005535 node Orphanet_293830 Constitutional dyserythropoietic anemia null http://www.orpha.net/ORDO/Orphanet_293830 node EFO_0001653 apical null http://www.ebi.ac.uk/efo/EFO_0001653 node Orphanet_220295 Xeroderma pigmentosum-Cockayne syndrome complex null http://www.orpha.net/ORDO/Orphanet_220295 node EFO_0009773 proline measurement null http://www.ebi.ac.uk/efo/EFO_0009773 node NCBITaxon_337 Burkholderia glumae null http://purl.obolibrary.org/obo/NCBITaxon_337 node CHEBI_62205 3-methylxanthine null http://purl.obolibrary.org/obo/CHEBI_62205 node MONDO_0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss null http://purl.obolibrary.org/obo/MONDO_0009968 node EFO_0008542 complement C3d subcomponent measurement null http://www.ebi.ac.uk/efo/EFO_0008542 node EFO_0009387 peripheral nervous system disease null http://www.ebi.ac.uk/efo/EFO_0009387 node EFO_0003690 obsolete_chondrocranium cartilage null http://www.ebi.ac.uk/efo/EFO_0003690 node Orphanet_369840 Autosomal recessive limb-girdle muscular dystrophy type 2S null http://www.orpha.net/ORDO/Orphanet_369840 node EFO_0001741 submitter null http://www.ebi.ac.uk/efo/EFO_0001741 node MONDO_0004678 dermatophytosis Editor note: check cutaneous vs superficial http://purl.obolibrary.org/obo/MONDO_0004678 node Orphanet_3309 Tetrasomy 5p null http://www.orpha.net/ORDO/Orphanet_3309 node EFO_1000962 hemometra null http://www.ebi.ac.uk/efo/EFO_1000962 node Orphanet_140477 Autosomal recessive hereditary sensory and autonomic neuropathy null http://www.orpha.net/ORDO/Orphanet_140477 node EFO_0009861 chromosome-type aberration frequency null http://www.ebi.ac.uk/efo/EFO_0009861 node Orphanet_2736 Lethal omphalocele-cleft palate syndrome null http://www.orpha.net/ORDO/Orphanet_2736 node EFO_1000095 Askin Tumor Editor note: in DO this is classified as Ewing sarcoma but we follow NCIT in placing as sibling http://www.ebi.ac.uk/efo/EFO_1000095 node EFO_0001906 obsolete_capillary null http://www.ebi.ac.uk/efo/EFO_0001906 node EFO_0008630 PacBio Sequel System null http://www.ebi.ac.uk/efo/EFO_0008630 node EFO_0006273 CGR8 null http://www.ebi.ac.uk/efo/EFO_0006273 node FBbt_00004202 hindgut anlage null http://purl.obolibrary.org/obo/FBbt_00004202 node Orphanet_300573 Polymicrogyria due to TUBB2B mutation null http://www.orpha.net/ORDO/Orphanet_300573 node EFO_0004369 obsolete_microgram per milliliter null http://www.ebi.ac.uk/efo/EFO_0004369 node EFO_1001816 neutropenic enterocolitis null http://www.ebi.ac.uk/efo/EFO_1001816 node NCBITaxon_98039 Schrenkiella parvula null http://purl.obolibrary.org/obo/NCBITaxon_98039 node TO_0000387 plant trait This includes physiological, molecular and biochemical traits as well. http://purl.obolibrary.org/obo/TO_0000387 node Orphanet_93338 Polysyndactyly null http://www.orpha.net/ORDO/Orphanet_93338 node Orphanet_295150 Polydactyly of a triphalangeal thumb, bilateral null http://www.orpha.net/ORDO/Orphanet_295150 node Orphanet_99135 6-phosphogluconate dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_99135 node Orphanet_2824 Paraplegia - intellectual disability - hyperkeratosis null http://www.orpha.net/ORDO/Orphanet_2824 node Orphanet_254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B null http://www.orpha.net/ORDO/Orphanet_254334 node EFO_1000202 Complex Endometrial Hyperplasia null http://www.ebi.ac.uk/efo/EFO_1000202 node EFO_0010257 global developmental delay, progressive ataxia, and elevated glutamine null http://www.ebi.ac.uk/efo/EFO_0010257 node CHEBI_24127 fungicide null http://purl.obolibrary.org/obo/CHEBI_24127 node HP_0003150 Glutaric aciduria null http://purl.obolibrary.org/obo/HP_0003150 node EFO_0004151 obsolete_Alagille syndrome null http://www.ebi.ac.uk/efo/EFO_0004151 node EFO_0010738 retinal dystrophy with leukodystrophy null http://www.ebi.ac.uk/efo/EFO_0010738 node EFO_0008054 C-C motif chemokine 7 measurement null http://www.ebi.ac.uk/efo/EFO_0008054 node EFO_1000581 Thymoma null http://www.ebi.ac.uk/efo/EFO_1000581 node HP_0010862 Delayed fine motor development null http://purl.obolibrary.org/obo/HP_0010862 node NCBITaxon_216389 Dehalococcoides sp. BAV1 null http://purl.obolibrary.org/obo/NCBITaxon_216389 node EFO_0002044 BC-1 null http://www.ebi.ac.uk/efo/EFO_0002044 node EFO_1001904 oral mucositis null http://www.ebi.ac.uk/efo/EFO_1001904 node EFO_1001352 Kartagener Syndrome null http://www.ebi.ac.uk/efo/EFO_1001352 node Orphanet_139390 Isolated craniosynostosis null http://www.orpha.net/ORDO/Orphanet_139390 node EFO_0005782 age-related hearing impairment Editor note: check classification sensorineural vs conductive http://www.ebi.ac.uk/efo/EFO_0005782 node EFO_1000248 Extrahepatic Bile Duct Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000248 node EFO_0009805 whole body water mass null http://www.ebi.ac.uk/efo/EFO_0009805 node EFO_0010345 cholesteryl ester 18:2 measurement null http://www.ebi.ac.uk/efo/EFO_0010345 node NCBITaxon_7004 Locusta migratoria null http://purl.obolibrary.org/obo/NCBITaxon_7004 node EFO_0002265 NCI-H1770 null http://www.ebi.ac.uk/efo/EFO_0002265 node EFO_0001338 TBP-71Q-16 null http://www.ebi.ac.uk/efo/EFO_0001338 node DOID_10113 trypanosomiasis null http://purl.obolibrary.org/obo/DOID_10113 node EFO_0008142 granulocyte colony-stimulating factor measurement null http://www.ebi.ac.uk/efo/EFO_0008142 node EFO_0000098 BY4741 null http://www.ebi.ac.uk/efo/EFO_0000098 node MONDO_0016663 overlapping connective tissue disease null http://purl.obolibrary.org/obo/MONDO_0016663 node MONDO_0044903 myelofibrosis null http://purl.obolibrary.org/obo/MONDO_0044903 node IAO_0000100 data set null http://purl.obolibrary.org/obo/IAO_0000100 node EFO_0005941 mammographic density measurement null http://www.ebi.ac.uk/efo/EFO_0005941 node UBERON_0002415 tail null http://purl.obolibrary.org/obo/UBERON_0002415 node Orphanet_87 Apert syndrome null http://www.orpha.net/ORDO/Orphanet_87 node Orphanet_399096 Distal anoctaminopathy null http://www.orpha.net/ORDO/Orphanet_399096 node MONDO_0054732 spermatogenic failure 28 null http://purl.obolibrary.org/obo/MONDO_0054732 node EFO_0005870 embryonic stage 10 Temporal ordering number - 290. http://www.ebi.ac.uk/efo/EFO_0005870 node EFO_0004943 T3c tumor stage null http://www.ebi.ac.uk/efo/EFO_0004943 node EFO_0010908 Epstein-Barr virus seropositivity null http://www.ebi.ac.uk/efo/EFO_0010908 node CHEBI_21549 N-acetyl-L-glutamate(1-) null http://purl.obolibrary.org/obo/CHEBI_21549 node EFO_0002353 ST486 null http://www.ebi.ac.uk/efo/EFO_0002353 node CL_0001071 group 3 innate lymphoid cell null http://purl.obolibrary.org/obo/CL_0001071 node EFO_0010190 5 prime tag null http://www.ebi.ac.uk/efo/EFO_0010190 node MONDO_0043510 brain injury null http://purl.obolibrary.org/obo/MONDO_0043510 node Orphanet_98588 Palpebral nevus null http://www.orpha.net/ORDO/Orphanet_98588 node EFO_0006745 RKN null http://www.ebi.ac.uk/efo/EFO_0006745 node NCBITaxon_1303 Streptococcus oralis null http://purl.obolibrary.org/obo/NCBITaxon_1303 node Orphanet_85179 Infantile osteopetrosis with neuroaxonal dysplasia null http://www.orpha.net/ORDO/Orphanet_85179 node CLO_0015094 GM17135 null http://purl.obolibrary.org/obo/CLO_0015094 node MONDO_0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor null http://purl.obolibrary.org/obo/MONDO_0018627 node EFO_0000268 obsolete_apoptotic amnioserosa null http://www.ebi.ac.uk/efo/EFO_0000268 node EFO_0010894 stromal cell of lamina propria of large intestine null http://www.ebi.ac.uk/efo/EFO_0010894 node EFO_0000749 comparative genomic hybridization by array null http://www.ebi.ac.uk/efo/EFO_0000749 node MONDO_0018550 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder null http://purl.obolibrary.org/obo/MONDO_0018550 node CHEBI_86910 N-acetyl histidine null http://purl.obolibrary.org/obo/CHEBI_86910 node EFO_0008731 EPIG-Seq null http://www.ebi.ac.uk/efo/EFO_0008731 node Orphanet_98676 Autosomal recessive isolated optic atrophy ORDO treats as isolated but includes syndromic forms as OMIM xrefs http://www.orpha.net/ORDO/Orphanet_98676 node EFO_0006833 glucose effectiveness measurement null http://www.ebi.ac.uk/efo/EFO_0006833 node MONDO_0018715 congenital hemangioma Editor note: this is distinct from inflantile hemangioma http://purl.obolibrary.org/obo/MONDO_0018715 node Orphanet_168563 46,XY gonadal dysgenesis - motor and sensory neuropathy null http://www.orpha.net/ORDO/Orphanet_168563 node EFO_0000356 obsolete_clypeo-labral primordium null http://www.ebi.ac.uk/efo/EFO_0000356 node CHEBI_31638 fulvestrant null http://purl.obolibrary.org/obo/CHEBI_31638 node EFO_1001037 meconium aspiration syndrome Editor note: ORDO says this is rare, yet NCIT says 5-10% of births http://www.ebi.ac.uk/efo/EFO_1001037 node Orphanet_1258 Blepharoptosis - cleft palate - ectrodactyly - dental anomalies null http://www.orpha.net/ORDO/Orphanet_1258 node EFO_0000169 obsolete_chronic lymphocytic leukemia null http://www.ebi.ac.uk/efo/EFO_0000169 node Orphanet_206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers null http://www.orpha.net/ORDO/Orphanet_206546 node EFO_0008777 Ig-Seq null http://www.ebi.ac.uk/efo/EFO_0008777 node Orphanet_98764 Spinocerebellar ataxia type 27 null http://www.orpha.net/ORDO/Orphanet_98764 node MONDO_0042489 disease susceptibility null http://purl.obolibrary.org/obo/MONDO_0042489 node Orphanet_140450 Hereditary motor and sensory neuropathy null http://www.orpha.net/ORDO/Orphanet_140450 node Orphanet_98074 Gonadal dysgenesis of gynecological interest null http://www.orpha.net/ORDO/Orphanet_98074 node Orphanet_262707 Partial duplication of the short arm of chromosome 3 null http://www.orpha.net/ORDO/Orphanet_262707 node Orphanet_251076 8p23.1 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_251076 node EFO_0007683 response to CAPOX-B null http://www.ebi.ac.uk/efo/EFO_0007683 node FBbt_00005612 embryonic esophagus null http://purl.obolibrary.org/obo/FBbt_00005612 node EFO_0008479 genomic DNA null http://www.ebi.ac.uk/efo/EFO_0008479 node Orphanet_101050 Familial hypocalciuric hypercalcemia type 3 null http://www.orpha.net/ORDO/Orphanet_101050 node MONDO_0024297 nutritional or metabolic disease Editor note: consider expanding to include endocrine http://purl.obolibrary.org/obo/MONDO_0024297 node Orphanet_90654 Stickler syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_90654 node Orphanet_206634 Genetic skeletal muscle disease null http://www.orpha.net/ORDO/Orphanet_206634 node Orphanet_2323 Sanjad-Sakati syndrome null http://www.orpha.net/ORDO/Orphanet_2323 node MONDO_0014995 neurodevelopmental disorder with hypotonia, seizures, and absent language null http://purl.obolibrary.org/obo/MONDO_0014995 node Orphanet_98132 Partial autosomal trisomy/tetrasomy null http://www.orpha.net/ORDO/Orphanet_98132 node MONDO_0014743 rhizomelic chondrodysplasia punctata type 5 null http://purl.obolibrary.org/obo/MONDO_0014743 node Orphanet_435 Ito hypomelanosis null http://www.orpha.net/ORDO/Orphanet_435 node EFO_0009464 corneal disease null http://www.ebi.ac.uk/efo/EFO_0009464 node GO_0090330 regulation of platelet aggregation null http://purl.obolibrary.org/obo/GO_0090330 node CLO_0014039 GM17176 null http://purl.obolibrary.org/obo/CLO_0014039 node EFO_0007100 iPS-11b null http://www.ebi.ac.uk/efo/EFO_0007100 node CL_0002112 B220-positive CD38-negative unswitched memory B cell null http://purl.obolibrary.org/obo/CL_0002112 node Orphanet_79137 Generalized epilepsy - paroxysmal dyskinesia null http://www.orpha.net/ORDO/Orphanet_79137 node MONDO_0004270 breast ductal adenoma null http://purl.obolibrary.org/obo/MONDO_0004270 node CL_0001008 Kit and Sca1-positive hematopoietic stem cell Cell markers are associated with mouse hematopoietic stem cell. Originally described in the dendritic cell ontology (DC_CL:0000043)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001008 node Orphanet_165988 Diazoxide-resistant diffuse hyperinsulinism null http://www.orpha.net/ORDO/Orphanet_165988 node EFO_0003862 obsolete_dementia null http://www.ebi.ac.uk/efo/EFO_0003862 node HP_0011886 Hyphema null http://purl.obolibrary.org/obo/HP_0011886 node CHEBI_15354 choline null http://purl.obolibrary.org/obo/CHEBI_15354 node MONDO_0024240 eccrine carcinoma null http://purl.obolibrary.org/obo/MONDO_0024240 node EFO_1000653 sarcopenia null http://www.ebi.ac.uk/efo/EFO_1000653 node PO_0009025 vascular leaf Has vascular tissue. From APweb Glossary: In angiosperms, commonly thought of as one of the three basic parts of the seed plant body, a structure usually of determinate growth, without secondary thickening, and of superficial origin, often flattened and photosynthetic in part, and in the axil of which is found a bud. Occurs in the sporophytic phase of a plant life cycle. http://purl.obolibrary.org/obo/PO_0009025 node MONDO_0002035 colon lymphoma null http://purl.obolibrary.org/obo/MONDO_0002035 node Orphanet_523 Hereditary leiomyomatosis and renal cell cancer null http://www.orpha.net/ORDO/Orphanet_523 node EFO_0009552 hemorrhoid null http://www.ebi.ac.uk/efo/EFO_0009552 node NCBITaxon_74035 Arthroderma uncinatum null http://purl.obolibrary.org/obo/NCBITaxon_74035 node EFO_0005398 high content analysis of cells by molecular content null http://www.ebi.ac.uk/efo/EFO_0005398 node EFO_0002677 saline null http://www.ebi.ac.uk/efo/EFO_0002677 node EFO_0007627 airway imaging measurement null http://www.ebi.ac.uk/efo/EFO_0007627 node Orphanet_2632 Langer mesomelic dysplasia null http://www.orpha.net/ORDO/Orphanet_2632 node Orphanet_744 Proteus syndrome null http://www.orpha.net/ORDO/Orphanet_744 node Orphanet_2445 Conotruncal heart malformations null http://www.orpha.net/ORDO/Orphanet_2445 node Orphanet_159 Carnitine-acylcarnitine translocase deficiency null http://www.orpha.net/ORDO/Orphanet_159 node EFO_0002061 ITM null http://www.ebi.ac.uk/efo/EFO_0002061 node EFO_0009775 threonine measurement null http://www.ebi.ac.uk/efo/EFO_0009775 node EFO_0007011 SSRI use measurement null http://www.ebi.ac.uk/efo/EFO_0007011 node CL_0002013 GlyA-positive basophillic erythroblast Markers are associated with human cells. http://purl.obolibrary.org/obo/CL_0002013 node MONDO_0024305 acquired hyperprolactinemia null http://purl.obolibrary.org/obo/MONDO_0024305 node EFO_0003950 ulna fracture null http://www.ebi.ac.uk/efo/EFO_0003950 node Orphanet_93216 Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes null http://www.orpha.net/ORDO/Orphanet_93216 node HP_0011974 Myelofibrosis null http://purl.obolibrary.org/obo/HP_0011974 node EFO_1000260 Floor of Mouth Mucoepidermoid Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000260 node Orphanet_130 Brugada syndrome null http://www.orpha.net/ORDO/Orphanet_130 node EFO_1000741 neurotic excoriation null http://www.ebi.ac.uk/efo/EFO_1000741 node EFO_0003763 cerebrovascular disorder null http://www.ebi.ac.uk/efo/EFO_0003763 node CHEBI_84662 triacylglycerol 50:2 null http://purl.obolibrary.org/obo/CHEBI_84662 node EFO_0009389 sum of eosinophil and basophil counts null http://www.ebi.ac.uk/efo/EFO_0009389 node EFO_0005486 J185a null http://www.ebi.ac.uk/efo/EFO_0005486 node EFO_0003692 obsolete_posterior lateral line system null http://www.ebi.ac.uk/efo/EFO_0003692 node EFO_0002765 proteomic profiling by array null http://www.ebi.ac.uk/efo/EFO_0002765 node Orphanet_320332 X-linked pure spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_320332 node EFO_0002121 C3A null http://www.ebi.ac.uk/efo/EFO_0002121 node HP_0000445 Wide nose null http://purl.obolibrary.org/obo/HP_0000445 node EFO_0001017 obsolete_apical shoot meristem null http://www.ebi.ac.uk/efo/EFO_0001017 node Orphanet_93926 Midline interhemispheric variant of holoprosencephaly null http://www.orpha.net/ORDO/Orphanet_93926 node Orphanet_832 Succinyl-CoA:3-ketoacid CoA transferase deficiency null http://www.orpha.net/ORDO/Orphanet_832 node BTO_0002180 184B5 cell null http://purl.obolibrary.org/obo/BTO_0002180 node EFO_0009863 anxiety measurement null http://www.ebi.ac.uk/efo/EFO_0009863 node Orphanet_399771 Male infertility due to sperm disorder null http://www.orpha.net/ORDO/Orphanet_399771 node HP_0000268 Dolichocephaly Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). http://purl.obolibrary.org/obo/HP_0000268 node Orphanet_251019 2q32q33 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_251019 node MONDO_0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures null http://purl.obolibrary.org/obo/MONDO_0100095 node EFO_0002823 obsolete_H69 null http://www.ebi.ac.uk/efo/EFO_0002823 node CL_0000801 gamma-delta intraepithelial T cell null http://purl.obolibrary.org/obo/CL_0000801 node MONDO_0010795 oncocytic neoplasm null http://purl.obolibrary.org/obo/MONDO_0010795 node Orphanet_228357 CLN9 disease null http://www.orpha.net/ORDO/Orphanet_228357 node Orphanet_93606 Nephrogenic syndrome of inappropriate antidiuresis null http://www.orpha.net/ORDO/Orphanet_93606 node Orphanet_141127 Congenital tracheal stenosis null http://www.orpha.net/ORDO/Orphanet_141127 node NCBITaxon_29058 Helicoverpa armigera null http://purl.obolibrary.org/obo/NCBITaxon_29058 node UBERON_0001473 lymphatic vessel null http://purl.obolibrary.org/obo/UBERON_0001473 node EFO_0001105 obsolete_GLI60 null http://www.ebi.ac.uk/efo/EFO_0001105 node MONDO_0027766 generalized lipodystrophy null http://purl.obolibrary.org/obo/MONDO_0027766 node MONDO_0021450 benign neoplasm of heart null http://purl.obolibrary.org/obo/MONDO_0021450 node NCBITaxon_168172 Puccinia striiformis f. sp. tritici null http://purl.obolibrary.org/obo/NCBITaxon_168172 node Orphanet_314485 Young adult-onset distal hereditary motor neuropathy null http://www.orpha.net/ORDO/Orphanet_314485 node CHEBI_7671 O-acetylhomoserine null http://purl.obolibrary.org/obo/CHEBI_7671 node NCBITaxon_3750 Malus x domestica null http://purl.obolibrary.org/obo/NCBITaxon_3750 node NCBITaxon_34199 Aloe vera null http://purl.obolibrary.org/obo/NCBITaxon_34199 node NCBITaxon_9555 Papio anubis null http://purl.obolibrary.org/obo/NCBITaxon_9555 node EFO_0002911 The International HapMap Project null http://www.ebi.ac.uk/efo/EFO_0002911 node MONDO_0004093 esophageal basaloid carcinoma null http://purl.obolibrary.org/obo/MONDO_0004093 node EFO_0004153 obsolete_cleidocranial dysplasia null http://www.ebi.ac.uk/efo/EFO_0004153 node EFO_0006553 CMA-03/06 null http://www.ebi.ac.uk/efo/EFO_0006553 node Orphanet_94064 Deafness-infertility syndrome null http://www.orpha.net/ORDO/Orphanet_94064 node MONDO_0054833 charcot-marie-tooth disease, axonal, type 2DD null http://purl.obolibrary.org/obo/MONDO_0054833 node CHEBI_4917 eugenol null http://purl.obolibrary.org/obo/CHEBI_4917 node Orphanet_268129 Spheroid body myopathy null http://www.orpha.net/ORDO/Orphanet_268129 node EFO_0006599 JHH-1 null http://www.ebi.ac.uk/efo/EFO_0006599 node NCBITaxon_9643 Ursus americanus null http://purl.obolibrary.org/obo/NCBITaxon_9643 node NCBITaxon_28573 Penicillium islandicum null http://purl.obolibrary.org/obo/NCBITaxon_28573 node BTO_0001518 B-lymphoma cell line null http://purl.obolibrary.org/obo/BTO_0001518 node EFO_0000826 obsolete_ear null http://www.ebi.ac.uk/efo/EFO_0000826 node NCBITaxon_584 Proteus mirabilis null http://purl.obolibrary.org/obo/NCBITaxon_584 node GO_0050794 regulation of cellular process null http://purl.obolibrary.org/obo/GO_0050794 node EFO_0006641 LXF-289 null http://www.ebi.ac.uk/efo/EFO_0006641 node MONDO_0030910 intellectual disability, autosomal dominant 45 null http://purl.obolibrary.org/obo/MONDO_0030910 node Orphanet_309816 Disorder of bilirubin metabolism and excretion null http://www.orpha.net/ORDO/Orphanet_309816 node Orphanet_137908 Hypotonia with lactic acidemia and hyperammonemia null http://www.orpha.net/ORDO/Orphanet_137908 node EFO_0010429 triacylglycerol 56:2 measurement null http://www.ebi.ac.uk/efo/EFO_0010429 node CLO_0016607 GM17759 null http://purl.obolibrary.org/obo/CLO_0016607 node EFO_0000433 duration null http://www.ebi.ac.uk/efo/EFO_0000433 node EFO_0004219 CD8-Positive T-Lymphocytes null http://www.ebi.ac.uk/efo/EFO_0004219 node MONDO_0024574 von Willebrand disease (hereditary or acquired) null http://purl.obolibrary.org/obo/MONDO_0024574 node EFO_0005731 cardiac myocyte cell derived cell line null http://www.ebi.ac.uk/efo/EFO_0005731 node EFO_0004804 birth rate null http://www.ebi.ac.uk/efo/EFO_0004804 node EFO_1001114 pneumococcal meningitis null http://www.ebi.ac.uk/efo/EFO_1001114 node EFO_0000914 obsolete_parietal lobe null http://www.ebi.ac.uk/efo/EFO_0000914 node NCBITaxon_90371 Salmonella enterica subsp. enterica serovar Typhimurium null http://purl.obolibrary.org/obo/NCBITaxon_90371 node Orphanet_1335 Cantrell pentalogy null http://www.orpha.net/ORDO/Orphanet_1335 node MONDO_0024387 benign ovarian sex cord-stromal tumor null http://purl.obolibrary.org/obo/MONDO_0024387 node EFO_0004617 cystatin C measurement null http://www.ebi.ac.uk/efo/EFO_0004617 node UBERON_2000125 mandibular lateral line neuromast null http://purl.obolibrary.org/obo/UBERON_2000125 node EFO_1001418 Salmonella Infections null http://www.ebi.ac.uk/efo/EFO_1001418 node EFO_0010192 primer null http://www.ebi.ac.uk/efo/EFO_0010192 node MONDO_0012565 Fanconi anemia complementation group N null http://purl.obolibrary.org/obo/MONDO_0012565 node UBERON_0002046 thyroid gland null http://purl.obolibrary.org/obo/UBERON_0002046 node MONDO_0007664 glaucoma 1, open angle, A null http://purl.obolibrary.org/obo/MONDO_0007664 node EFO_0007491 spleen cancer null http://www.ebi.ac.uk/efo/EFO_0007491 node EFO_0007286 glanders null http://www.ebi.ac.uk/efo/EFO_0007286 node Orphanet_79389 Premature aging null http://www.orpha.net/ORDO/Orphanet_79389 node EFO_0010036 HITS-KIN null http://www.ebi.ac.uk/efo/EFO_0010036 node EFO_0003003 ILSXISS100/TejJ null http://www.ebi.ac.uk/efo/EFO_0003003 node GO_0045321 leukocyte activation null http://purl.obolibrary.org/obo/GO_0045321 node UO_0000040 millimole null http://purl.obolibrary.org/obo/UO_0000040 node Orphanet_1423 Lethal recessive chondrodysplasia null http://www.orpha.net/ORDO/Orphanet_1423 node EFO_1001202 suppurative periapical periodontitis null http://www.ebi.ac.uk/efo/EFO_1001202 node CHEBI_15589 (S)-malate(2−) null http://purl.obolibrary.org/obo/CHEBI_15589 node MONDO_0024475 squamous cell intraepithelial neoplasia null http://purl.obolibrary.org/obo/MONDO_0024475 node EFO_0005632 intestinal necrosis null http://www.ebi.ac.uk/efo/EFO_0005632 node EFO_0004705 hypothyroidism null http://www.ebi.ac.uk/efo/EFO_0004705 node BTO_0000383 renal cell carcinoma cell line null http://purl.obolibrary.org/obo/BTO_0000383 node NCBITaxon_36630 Neosartorya fischeri null http://purl.obolibrary.org/obo/NCBITaxon_36630 node Orphanet_352328 MEGDEL syndrome Present because it is in the OMIM series. http://www.orpha.net/ORDO/Orphanet_352328 node EFO_0007374 mixed connective tissue disease null http://www.ebi.ac.uk/efo/EFO_0007374 node Orphanet_98853 Autosomal dominant Emery-Dreifuss muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_98853 node CL_0001020 mature CD8_alpha-low Langerhans cell These markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000031)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001020 node Orphanet_493 Familial keratoacanthoma Editor note: consider adding subtypes http://www.orpha.net/ORDO/Orphanet_493 node HP_0002208 Coarse hair null http://purl.obolibrary.org/obo/HP_0002208 node Orphanet_183518 Rare hereditary ataxia null http://www.orpha.net/ORDO/Orphanet_183518 node EFO_0007784 functional decline measurement null http://www.ebi.ac.uk/efo/EFO_0007784 node Orphanet_352682 Cobblestone lissencephaly without muscular or ocular involvement null http://www.orpha.net/ORDO/Orphanet_352682 node UBERON_0024151 tegmentum null http://purl.obolibrary.org/obo/UBERON_0024151 node NCBITaxon_98754 Festuca rubra subsp. fallax null http://purl.obolibrary.org/obo/NCBITaxon_98754 node NCBITaxon_5691 Trypanosoma brucei null http://purl.obolibrary.org/obo/NCBITaxon_5691 node EFO_0009976 DNase Hi-C null http://www.ebi.ac.uk/efo/EFO_0009976 node EFO_0001772 operator variation design null http://www.ebi.ac.uk/efo/EFO_0001772 node UBERON_0000468 multicellular organism null http://purl.obolibrary.org/obo/UBERON_0000468 node NCBITaxon_8222 Gillichthys mirabilis null http://purl.obolibrary.org/obo/NCBITaxon_8222 node MONDO_0001299 diabetic autonomic neuropathy null http://purl.obolibrary.org/obo/MONDO_0001299 node Orphanet_98941 Von Hippel anomaly null http://www.orpha.net/ORDO/Orphanet_98941 node Orphanet_98625 Superficial corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98625 node Orphanet_397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency null http://www.orpha.net/ORDO/Orphanet_397593 node Orphanet_2690 Neutropenia - monocytopenia - deafness null http://www.orpha.net/ORDO/Orphanet_2690 node PO_0000055 bud Any small part of the embryo or adult metazoon more or less resembling the bud of a plant and presumed to have potential for growth and differentiation. http://purl.obolibrary.org/obo/PO_0000055 node EFO_0007685 trichloroethylene-induced hypersensitivity null http://www.ebi.ac.uk/efo/EFO_0007685 node UBERON_0013203 hypogastrium null http://purl.obolibrary.org/obo/UBERON_0013203 node CHEBI_50919 antiemetic null http://purl.obolibrary.org/obo/CHEBI_50919 node EFO_0004798 copy number variation null http://www.ebi.ac.uk/efo/EFO_0004798 node NCBITaxon_284812 Schizosaccharomyces pombe 972h- null http://purl.obolibrary.org/obo/NCBITaxon_284812 node MONDO_0013536 heme oxygenase 1 deficiency null http://purl.obolibrary.org/obo/MONDO_0013536 node GO_0090407 organophosphate biosynthetic process null http://purl.obolibrary.org/obo/GO_0090407 node EFO_0007318 hyperinsulinemic hypoglycemia null http://www.ebi.ac.uk/efo/EFO_0007318 node HP_0031458 Adenoiditis Adenoiditis is usually caused by an infection. http://purl.obolibrary.org/obo/HP_0031458 node Orphanet_3087 Retinohepatoendocrinologic syndrome null http://www.orpha.net/ORDO/Orphanet_3087 node HP_0009053 Distal lower limb muscle weakness This finding can be due to peripheral neuropathy. http://purl.obolibrary.org/obo/HP_0009053 node EFO_0009466 Löfgren’s syndrome null http://www.ebi.ac.uk/efo/EFO_0009466 node Orphanet_98713 Metabolic disease with pigmentary retinitis null http://www.orpha.net/ORDO/Orphanet_98713 node EFO_0009947 nucleoside diphosphate kinase A measurement null http://www.ebi.ac.uk/efo/EFO_0009947 node MONDO_0001475 neutropenia null http://purl.obolibrary.org/obo/MONDO_0001475 node EFO_0007102 iPS-15b null http://www.ebi.ac.uk/efo/EFO_0007102 node EFO_0004886 intracranial volume measurement null http://www.ebi.ac.uk/efo/EFO_0004886 node Orphanet_79 Congenital alpha2 antiplasmin deficiency null http://www.orpha.net/ORDO/Orphanet_79 node EFO_1001196 subdural empyema null http://www.ebi.ac.uk/efo/EFO_1001196 node Orphanet_276244 Machado-Joseph disease type 3 null http://www.orpha.net/ORDO/Orphanet_276244 node EFO_0007406 oral candidiasis null http://www.ebi.ac.uk/efo/EFO_0007406 node EFO_0004699 gambling behaviour null http://www.ebi.ac.uk/efo/EFO_0004699 node EFO_0009272 Epstein Barr viral capsid antigen seropositivity null http://www.ebi.ac.uk/efo/EFO_0009272 node HP_0002566 Intestinal malrotation null http://purl.obolibrary.org/obo/HP_0002566 node EFO_0009649 susceptibility to breast cancer null http://www.ebi.ac.uk/efo/EFO_0009649 node EFO_0007219 congenital syphilis null http://www.ebi.ac.uk/efo/EFO_0007219 node Orphanet_3175 Spasticity - intellectual disability - X-linked epilepsy null http://www.orpha.net/ORDO/Orphanet_3175 node EFO_0009554 malabsorption syndrome null http://www.ebi.ac.uk/efo/EFO_0009554 node EFO_1001898 mucositis null http://www.ebi.ac.uk/efo/EFO_1001898 node EFO_1001284 capillary leak syndrome null http://www.ebi.ac.uk/efo/EFO_1001284 node EFO_0007013 aspirin use measurement null http://www.ebi.ac.uk/efo/EFO_0007013 node EFO_0009360 eyelid sagging measurement null http://www.ebi.ac.uk/efo/EFO_0009360 node HP_0012762 Cerebral white matter atrophy null http://purl.obolibrary.org/obo/HP_0012762 node MONDO_0004651 smallpox null http://purl.obolibrary.org/obo/MONDO_0004651 node CHEBI_4975 famotidine null http://purl.obolibrary.org/obo/CHEBI_4975 node EFO_1001986 connective tissue disease null http://www.ebi.ac.uk/efo/EFO_1001986 node EFO_0006958 mannose measurement null http://www.ebi.ac.uk/efo/EFO_0006958 node MONDO_0021469 benign neoplasm of anus null http://purl.obolibrary.org/obo/MONDO_0021469 node UBERON_0003456 respiratory system lymphatic vessel null http://purl.obolibrary.org/obo/UBERON_0003456 node EFO_0002626 thymus neoplasm null http://www.ebi.ac.uk/efo/EFO_0002626 node Orphanet_284414 Glycerol kinase deficiency, adult form null http://www.orpha.net/ORDO/Orphanet_284414 node EFO_0003366 obsolete_primary segmental branch primordium null http://www.ebi.ac.uk/efo/EFO_0003366 node EFO_0000020 CS57580 null http://www.ebi.ac.uk/efo/EFO_0000020 node EFO_0009243 Myeloid to Erythroid Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009243 node MONDO_0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 Obsolete in OMIM. http://purl.obolibrary.org/obo/MONDO_0010387 node Orphanet_289103 Hypocalcemic rickets null http://www.orpha.net/ORDO/Orphanet_289103 node HP_0011736 Primary hyperaldosteronism null http://purl.obolibrary.org/obo/HP_0011736 node EFO_0004027 AA89 null http://www.ebi.ac.uk/efo/EFO_0004027 node MONDO_0015860 anomaly of puberty or/and menstrual cycle null http://purl.obolibrary.org/obo/MONDO_0015860 node EFO_0000241 obsolete_adult foregut precursor null http://www.ebi.ac.uk/efo/EFO_0000241 node EFO_0000722 obsolete_time before disease progression candidate for deprecation http://www.ebi.ac.uk/efo/EFO_0000722 node Orphanet_2791 Otodental syndrome null http://www.orpha.net/ORDO/Orphanet_2791 node MONDO_0000726 idiopathic scoliosis null http://purl.obolibrary.org/obo/MONDO_0000726 node EFO_0007786 menstrual cycle measurement null http://www.ebi.ac.uk/efo/EFO_0007786 node EFO_0006859 head and neck malignant neoplasia null http://www.ebi.ac.uk/efo/EFO_0006859 node HP_0025324 Arterial occlusion null http://purl.obolibrary.org/obo/HP_0025324 node EFO_0003454 obsolete_presumptive floor plate null http://www.ebi.ac.uk/efo/EFO_0003454 node HP_0001321 Cerebellar hypoplasia By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments. http://purl.obolibrary.org/obo/HP_0001321 node EFO_0004501 HOMA-IR null http://www.ebi.ac.uk/efo/EFO_0004501 node EFO_0008404 susceptibility to mumps measurement null http://www.ebi.ac.uk/efo/EFO_0008404 node UBERON_6001060 embryonic brain null http://purl.obolibrary.org/obo/UBERON_6001060 node MONDO_0016233 rare lymphatic system malformation null http://purl.obolibrary.org/obo/MONDO_0016233 node GO_0032277 negative regulation of gonadotropin secretion null http://purl.obolibrary.org/obo/GO_0032277 node MONDO_0000532 lung combined type small cell adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0000532 node Orphanet_324703 Hereditary cerebral hemorrhage with amyloidosis, Piedmont type null http://www.orpha.net/ORDO/Orphanet_324703 node EFO_1001010 Landau-Kleffner syndrome null http://www.ebi.ac.uk/efo/EFO_1001010 node EFO_0010750 PHF-tau measurement null http://www.ebi.ac.uk/efo/EFO_0010750 node EFO_0000810 obsolete_fat body sensu invertebrata null http://www.ebi.ac.uk/efo/EFO_0000810 node Orphanet_247638 Prenatal benign hypophosphatasia null http://www.orpha.net/ORDO/Orphanet_247638 node EFO_0005440 array control design null http://www.ebi.ac.uk/efo/EFO_0005440 node EFO_0007874 gut microbiome measurement null http://www.ebi.ac.uk/efo/EFO_0007874 node EFO_0003542 obsolete_prootic null http://www.ebi.ac.uk/efo/EFO_0003542 node Orphanet_183530 Rare genetic developmental defect during embryogenesis null http://www.orpha.net/ORDO/Orphanet_183530 node MONDO_0030067 treacher collins syndrome 4 null http://purl.obolibrary.org/obo/MONDO_0030067 node Orphanet_991 PAGOD syndrome null http://www.orpha.net/ORDO/Orphanet_991 node Orphanet_101076 X-linked Charcot-Marie-Tooth disease type 2 null http://www.orpha.net/ORDO/Orphanet_101076 node MONDO_0021222 lacrimal gland neoplasm null http://purl.obolibrary.org/obo/MONDO_0021222 node CL_0000789 alpha-beta T cell null http://purl.obolibrary.org/obo/CL_0000789 node EFO_0000307 obsolete_bronchial epithelium null http://www.ebi.ac.uk/efo/EFO_0000307 node Orphanet_352490 Autism spectrum disorder due to AUTS2 deficiency null http://www.orpha.net/ORDO/Orphanet_352490 node NCBITaxon_83332 Mycobacterium tuberculosis H37Rv null http://purl.obolibrary.org/obo/NCBITaxon_83332 node MONDO_0000620 breast benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0000620 node EFO_0008915 scTHS-seq null http://www.ebi.ac.uk/efo/EFO_0008915 node EFO_0000212 obsolete_Wilms tumor null http://www.ebi.ac.uk/efo/EFO_0000212 node GO_0007049 cell cycle null http://purl.obolibrary.org/obo/GO_0007049 node Orphanet_324604 Classic multiminicore myopathy null http://www.orpha.net/ORDO/Orphanet_324604 node EFO_0008728 EC-seq null http://www.ebi.ac.uk/efo/EFO_0008728 node EFO_0005323 post-operative sign or symptom null http://www.ebi.ac.uk/efo/EFO_0005323 node MONDO_0000256 systemic mycosis null http://purl.obolibrary.org/obo/MONDO_0000256 node Orphanet_308013 Focal acral hyperkeratosis null http://www.orpha.net/ORDO/Orphanet_308013 node BTO_0000849 melanoma cell line null http://purl.obolibrary.org/obo/BTO_0000849 node CHEBI_48942 isovalerate null http://purl.obolibrary.org/obo/CHEBI_48942 node Orphanet_2388 Choreoacanthocytosis null http://www.orpha.net/ORDO/Orphanet_2388 node EFO_0009920 Slide-seq null http://www.ebi.ac.uk/efo/EFO_0009920 node EFO_1000866 choroid cancer null http://www.ebi.ac.uk/efo/EFO_1000866 node EFO_0007288 obsolete_glycogen storage disease I null http://www.ebi.ac.uk/efo/EFO_0007288 node EFO_0008335 ventricular repolarisation duration measurement null http://www.ebi.ac.uk/efo/EFO_0008335 node MONDO_0021052 parasympathetic paraganglioma null http://purl.obolibrary.org/obo/MONDO_0021052 node EFO_0008816 MIRA null http://www.ebi.ac.uk/efo/EFO_0008816 node PO_0009056 flower nectary null http://purl.obolibrary.org/obo/PO_0009056 node Orphanet_93571 Dense deposit disease null http://www.orpha.net/ORDO/Orphanet_93571 node MONDO_0019801 acute adrenal insufficiency null http://purl.obolibrary.org/obo/MONDO_0019801 node Orphanet_35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency null http://www.orpha.net/ORDO/Orphanet_35701 node EFO_0007094 HUES9 null http://www.ebi.ac.uk/efo/EFO_0007094 node Orphanet_33069 Dravet syndrome null http://www.orpha.net/ORDO/Orphanet_33069 node Orphanet_2476 Medeira-Dennis-Donnai syndrome null http://www.orpha.net/ORDO/Orphanet_2476 node CHEBI_68443 1-methylxanthine null http://purl.obolibrary.org/obo/CHEBI_68443 node Orphanet_157949 Combined immunodeficiency with skin granulomas null http://www.orpha.net/ORDO/Orphanet_157949 node UO_0000207 milliliter per liter null http://purl.obolibrary.org/obo/UO_0000207 node CL_0002044 Kit-positive, integrin beta7-high basophil mast progenitor cell Markers are associated with mouse cells. http://purl.obolibrary.org/obo/CL_0002044 node EFO_1000954 habitual abortion null http://www.ebi.ac.uk/efo/EFO_1000954 node MONDO_0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies null http://purl.obolibrary.org/obo/MONDO_0032942 node EFO_0007376 Mononegavirales infectious disease null http://www.ebi.ac.uk/efo/EFO_0007376 node UBERON_0001377 quadriceps femoris null http://purl.obolibrary.org/obo/UBERON_0001377 node EFO_0008423 IgG monogalactosylation measurement null http://www.ebi.ac.uk/efo/EFO_0008423 node UBERON_0001836 saliva null http://purl.obolibrary.org/obo/UBERON_0001836 node EFO_1000767 skin sarcoidosis null http://www.ebi.ac.uk/efo/EFO_1000767 node EFO_0002815 BJAB null http://www.ebi.ac.uk/efo/EFO_0002815 node EFO_0007182 Brill-Zinsser disease null http://www.ebi.ac.uk/efo/EFO_0007182 node EFO_0008024 angiostatin measurement null http://www.ebi.ac.uk/efo/EFO_0008024 node CL_0002109 B220-positive CD38-positive naive B cell null http://purl.obolibrary.org/obo/CL_0002109 node NCBITaxon_2926 Alexandrium tamarense null http://purl.obolibrary.org/obo/NCBITaxon_2926 node MONDO_0012274 acromesomelic dysplasia, Demirhan type null http://purl.obolibrary.org/obo/MONDO_0012274 node UBERON_0001465 knee null http://purl.obolibrary.org/obo/UBERON_0001465 node EFO_0003859 uterine neoplasm null http://www.ebi.ac.uk/efo/EFO_0003859 node Orphanet_268961 Isolated focal cortical dysplasia type I null http://www.orpha.net/ORDO/Orphanet_268961 node NCBITaxon_1263 Ruminococcus null http://purl.obolibrary.org/obo/NCBITaxon_1263 node CHEBI_16797 1-methylnicotinamide null http://purl.obolibrary.org/obo/CHEBI_16797 node EFO_0002422 benign neoplasm Editor note: see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/14 http://www.ebi.ac.uk/efo/EFO_0002422 node NCBITaxon_1076 Rhodopseudomonas palustris null http://purl.obolibrary.org/obo/NCBITaxon_1076 node MONDO_0024645 retroperitoneal neoplasm null http://purl.obolibrary.org/obo/MONDO_0024645 node EFO_0001188 HMEC null http://www.ebi.ac.uk/efo/EFO_0001188 node EFO_0007270 femoral cancer null http://www.ebi.ac.uk/efo/EFO_0007270 node EFO_0002716 Pt45P1 null http://www.ebi.ac.uk/efo/EFO_0002716 node EFO_0008112 dual specificity mitogen-activated protein kinase kinase 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008112 node MONDO_0004355 childhood leukemia null http://purl.obolibrary.org/obo/MONDO_0004355 node EFO_0003947 personality null http://www.ebi.ac.uk/efo/EFO_0003947 node NCBITaxon_7176 Culex quinquefasciatus null http://purl.obolibrary.org/obo/NCBITaxon_7176 node CHEBI_16199 urea null http://purl.obolibrary.org/obo/CHEBI_16199 node Orphanet_2200 Focal palmoplantar and gingival keratoderma null http://www.orpha.net/ORDO/Orphanet_2200 node NCBITaxon_757424 Herbaspirillum seropedicae SmR1 null http://purl.obolibrary.org/obo/NCBITaxon_757424 node HP_0001627 Abnormal heart morphology null http://purl.obolibrary.org/obo/HP_0001627 node EFO_0002510 serous cystadenofibroma null http://www.ebi.ac.uk/efo/EFO_0002510 node Orphanet_171929 Trisomy 10p null http://www.orpha.net/ORDO/Orphanet_171929 node MONDO_0002037 pleural disease null http://purl.obolibrary.org/obo/MONDO_0002037 node UBERON_0001774 skeletal muscle of trunk null http://purl.obolibrary.org/obo/UBERON_0001774 node EFO_0001276 blastula 256-cell null http://www.ebi.ac.uk/efo/EFO_0001276 node EFO_0009051 Non-immune hydrops fetalis null http://www.ebi.ac.uk/efo/EFO_0009051 node EFO_0002323 RWPE1 null http://www.ebi.ac.uk/efo/EFO_0002323 node EFO_0000692 schizophrenia null http://www.ebi.ac.uk/efo/EFO_0000692 node MONDO_0021546 ependymal tumor of spinal cord null http://purl.obolibrary.org/obo/MONDO_0021546 node EFO_0001099 Caco-2 null http://www.ebi.ac.uk/efo/EFO_0001099 node CHEBI_254496 7,12-dimethylbenz(a)anthracene null http://purl.obolibrary.org/obo/CHEBI_254496 node GO_0045839 negative regulation of mitotic nuclear division null http://purl.obolibrary.org/obo/GO_0045839 node Orphanet_251523 Recurrent infections - inflammatory syndrome due to zinc metabolism disorder null http://www.orpha.net/ORDO/Orphanet_251523 node EFO_0004104 obsolete_seq library source null http://www.ebi.ac.uk/efo/EFO_0004104 node EFO_0001364 obsolete_organ of corti null http://www.ebi.ac.uk/efo/EFO_0001364 node EFO_0000780 Enterococcus faecalis infection null http://www.ebi.ac.uk/efo/EFO_0000780 node MONDO_0021634 epithelial skin neoplasm null http://purl.obolibrary.org/obo/MONDO_0021634 node CHEBI_28177 theophylline null http://purl.obolibrary.org/obo/CHEBI_28177 node HP_0002350 Cerebellar cyst null http://purl.obolibrary.org/obo/HP_0002350 node MONDO_0015070 laryngeal neuroendocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0015070 node Orphanet_314701 Primary systemic amyloidosis null http://www.orpha.net/ORDO/Orphanet_314701 node EFO_1001808 manganese poisoning null http://www.ebi.ac.uk/efo/EFO_1001808 node EFO_0006737 PK-8 null http://www.ebi.ac.uk/efo/EFO_0006737 node Orphanet_1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia null http://www.orpha.net/ORDO/Orphanet_1366 node Orphanet_261806 Partial deletion of chromosome 9 null http://www.orpha.net/ORDO/Orphanet_261806 node EFO_0003145 high output heart failure null http://www.ebi.ac.uk/efo/EFO_0003145 node Orphanet_324761 Microcephalic primordial dwarfism null http://www.orpha.net/ORDO/Orphanet_324761 node Orphanet_1179 Benign paroxysmal tonic upgaze of childhood with ataxia null http://www.orpha.net/ORDO/Orphanet_1179 node Orphanet_1764 Familial dysautonomia null http://www.orpha.net/ORDO/Orphanet_1764 node EFO_1001090 partial sensory epilepsy null http://www.ebi.ac.uk/efo/EFO_1001090 node Orphanet_1587 Monosomy 13q14 null http://www.orpha.net/ORDO/Orphanet_1587 node MONDO_0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder null http://purl.obolibrary.org/obo/MONDO_0044302 node HP_0200055 Small hand null http://purl.obolibrary.org/obo/HP_0200055 node EFO_0006344 medication adherence behavior null http://www.ebi.ac.uk/efo/EFO_0006344 node Orphanet_85458 Hereditary cerebral hemorrhage with amyloidosis null http://www.orpha.net/ORDO/Orphanet_85458 node MONDO_0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia null http://purl.obolibrary.org/obo/MONDO_0060611 node EFO_0005845 hemoglobin A2 measurement null http://www.ebi.ac.uk/efo/EFO_0005845 node EFO_0010465 beta-hydroxybutyric acid measurement null http://www.ebi.ac.uk/efo/EFO_0010465 node Orphanet_96180 Maternal uniparental disomy of chromosome 4 null http://www.orpha.net/ORDO/Orphanet_96180 node EFO_0010288 brain density measurement null http://www.ebi.ac.uk/efo/EFO_0010288 node Orphanet_94149 Autosomal dominant cerebellar ataxia type 4 null http://www.orpha.net/ORDO/Orphanet_94149 node EFO_0006638 LOU-NH91 null http://www.ebi.ac.uk/efo/EFO_0006638 node EFO_0004182 Rapid Amplification of cDNA Ends null http://www.ebi.ac.uk/efo/EFO_0004182 node Orphanet_168621 Dysplasia of head of femur, Meyer type null http://www.orpha.net/ORDO/Orphanet_168621 node MONDO_0004600 monocytic leukemia null http://purl.obolibrary.org/obo/MONDO_0004600 node Orphanet_1852 X-linked retinal dysplasia null http://www.orpha.net/ORDO/Orphanet_1852 node Orphanet_1675 Dihydropyrimidine dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_1675 node ZFA_0001385 apical ectodermal ridge pelvic fin bud null http://purl.obolibrary.org/obo/ZFA_0001385 node MONDO_0023726 mediastinal yolk sac tumor null http://purl.obolibrary.org/obo/MONDO_0023726 node EFO_0010553 cocaine use measurement null http://www.ebi.ac.uk/efo/EFO_0010553 node EFO_0005728 bronchial epithelial cell derived cell line null http://www.ebi.ac.uk/efo/EFO_0005728 node CHEBI_17234 glucose null http://purl.obolibrary.org/obo/CHEBI_17234 node PO_0020099 microgametophyte vegetative cell null http://purl.obolibrary.org/obo/PO_0020099 node Orphanet_79450 obsolete_Non hereditary congenital primary lymphedema null http://www.orpha.net/ORDO/Orphanet_79450 node HP_0012471 Thick vermilion border null http://purl.obolibrary.org/obo/HP_0012471 node CL_0000954 small pre-B-II cell Small pre-B-II cells are also reportedly CD10-positive, CD19-positive, CD34-negative, CD79a-positive, CD127-negative, TdT-negative, Vpre-B-negative, sIgM-negative, and sIgD-negative. Transcription factors: PU.1-positive, Ikaros-positive, E2A-positive, and PAX5-positive. http://purl.obolibrary.org/obo/CL_0000954 node Orphanet_295012 Syndactyly type 6 null http://www.orpha.net/ORDO/Orphanet_295012 node EFO_0010376 phosphatidylcholine 34:2 measurement null http://www.ebi.ac.uk/efo/EFO_0010376 node EFO_0008592 high density lipoprotein particle size measurement null http://www.ebi.ac.uk/efo/EFO_0008592 node EFO_0010189 3 prime end bias null http://www.ebi.ac.uk/efo/EFO_0010189 node Orphanet_2495 Meningioma null http://www.orpha.net/ORDO/Orphanet_2495 node EFO_0004083 DR47 null http://www.ebi.ac.uk/efo/EFO_0004083 node MONDO_0010283 syndromic X-linked intellectual disability Lubs type null http://purl.obolibrary.org/obo/MONDO_0010283 node CLO_0014417 GM17247 null http://purl.obolibrary.org/obo/CLO_0014417 node Orphanet_324977 Proteasome disability syndrome null http://www.orpha.net/ORDO/Orphanet_324977 node EFO_0002990 ILSXISS62/TejJ null http://www.ebi.ac.uk/efo/EFO_0002990 node EFO_0007735 CBA/J null http://www.ebi.ac.uk/efo/EFO_0007735 node EFO_0006808 arachidonic acid measurement null http://www.ebi.ac.uk/efo/EFO_0006808 node Orphanet_364536 Primary bone dysplasia with micromelia null http://www.orpha.net/ORDO/Orphanet_364536 node HP_0004552 Scarring alopecia of scalp null http://purl.obolibrary.org/obo/HP_0004552 node EFO_0009458 alcohol use disorder measurement null http://www.ebi.ac.uk/efo/EFO_0009458 node Orphanet_169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells null http://www.orpha.net/ORDO/Orphanet_169443 node EFO_0008680 ChAP-seq null http://www.ebi.ac.uk/efo/EFO_0008680 node MONDO_0045001 cardiac ventricle disease null http://purl.obolibrary.org/obo/MONDO_0045001 node CL_0002121 CD24-negative CD38-negative IgG-negative class switched memory B cell null http://purl.obolibrary.org/obo/CL_0002121 node Orphanet_522077 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome null http://www.orpha.net/ORDO/Orphanet_522077 node Orphanet_263548 Peeling skin syndrome type A null http://www.orpha.net/ORDO/Orphanet_263548 node Orphanet_220452 Inherited giant platelet disorder null http://www.orpha.net/ORDO/Orphanet_220452 node CL_0001017 mature CD1a-positive Langerhans cell Originally described in the dendritic cell ontology (DC_CL:0000029)(PMID:19243617). When activated, these cells produce IL-6, IL-8, and IL-15. http://purl.obolibrary.org/obo/CL_0001017 node CHEBI_63940 sodium tungstate null http://purl.obolibrary.org/obo/CHEBI_63940 node EFO_0002873 WM793 null http://www.ebi.ac.uk/efo/EFO_0002873 node NCBITaxon_99883 Tetraodon nigroviridis null http://purl.obolibrary.org/obo/NCBITaxon_99883 node EFO_0007823 facial hair thickness measurement null http://www.ebi.ac.uk/efo/EFO_0007823 node CHEBI_28088 genistein null http://purl.obolibrary.org/obo/CHEBI_28088 node EFO_0001769 obsolete_in vivo design null http://www.ebi.ac.uk/efo/EFO_0001769 node Orphanet_2641 Micromelic dwarfism, Fryns type null http://www.orpha.net/ORDO/Orphanet_2641 node MONDO_0024501 appendix neuroendocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0024501 node EFO_0009359 Anti-hepatitis B virus core antigen IgG measurement null http://www.ebi.ac.uk/efo/EFO_0009359 node Orphanet_93388 Brachydactyly type A1 null http://www.orpha.net/ORDO/Orphanet_93388 node EFO_0009767 glycine measurement null http://www.ebi.ac.uk/efo/EFO_0009767 node HP_0000774 Narrow chest null http://purl.obolibrary.org/obo/HP_0000774 node Orphanet_682 Hyperkalemic periodic paralysis null http://www.orpha.net/ORDO/Orphanet_682 node CLO_0026789 GM15385 null http://purl.obolibrary.org/obo/CLO_0026789 node CHEBI_23354 coenzyme null http://purl.obolibrary.org/obo/CHEBI_23354 node CL_0002430 CD4-intermediate, CD8-positive double-positive thymocyte null http://purl.obolibrary.org/obo/CL_0002430 node UBERON_0001156 ascending colon null http://purl.obolibrary.org/obo/UBERON_0001156 node Orphanet_309282 Alpha-mannosidosis, infantile form null http://www.orpha.net/ORDO/Orphanet_309282 node HP_0000160 Narrow mouth The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width. http://purl.obolibrary.org/obo/HP_0000160 node EFO_1001497 cardiac conduction defect null http://www.ebi.ac.uk/efo/EFO_1001497 node HP_0004839 Pyropoikilocytosis null http://purl.obolibrary.org/obo/HP_0004839 node CHEBI_47807 sulforaphane null http://purl.obolibrary.org/obo/CHEBI_47807 node Orphanet_841 Sebocystomatosis null http://www.orpha.net/ORDO/Orphanet_841 node CHEBI_16962 cortisone null http://purl.obolibrary.org/obo/CHEBI_16962 node EFO_0002590 ring stage trophozoite null http://www.ebi.ac.uk/efo/EFO_0002590 node EFO_0009668 external ear disease null http://www.ebi.ac.uk/efo/EFO_0009668 node CHEBI_64153 tanespimycin null http://purl.obolibrary.org/obo/CHEBI_64153 node EFO_0004760 t-tau measurement null http://www.ebi.ac.uk/efo/EFO_0004760 node EFO_0009505 head injury null http://www.ebi.ac.uk/efo/EFO_0009505 node FBbt_00005643 embryonic Malpighian tubule tip cell null http://purl.obolibrary.org/obo/FBbt_00005643 node UBERON_0001057 corpus allatum will be ceded to arthropod anatomy ontology http://purl.obolibrary.org/obo/UBERON_0001057 node EFO_0008026 annexin A1 measurement null http://www.ebi.ac.uk/efo/EFO_0008026 node Orphanet_225147 Sporadic infantile bilateral striatal necrosis null http://www.orpha.net/ORDO/Orphanet_225147 node Orphanet_141136 Hemifacial microsomia null http://www.orpha.net/ORDO/Orphanet_141136 node EFO_0008507 interstitial cystitis Interstitial cystitis, also known as bladder pain syndrome, is a type of chronic pain that affects the bladder. Symptoms include feeling the need to urinate right away, needing to urinate often, and pain with sex. http://www.ebi.ac.uk/efo/EFO_0008507 node MONDO_0014548 long QT syndrome 14 null http://purl.obolibrary.org/obo/MONDO_0014548 node NCBITaxon_1265 Ruminococcus flavefaciens null http://purl.obolibrary.org/obo/NCBITaxon_1265 node Orphanet_83620 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells null http://www.orpha.net/ORDO/Orphanet_83620 node EFO_1001820 oroficial granulomatosis null http://www.ebi.ac.uk/efo/EFO_1001820 node Orphanet_90042 Primary familial polycythemia null http://www.orpha.net/ORDO/Orphanet_90042 node EFO_1000716 obsolete_incontinentia pigmenti achromians null http://www.ebi.ac.uk/efo/EFO_1000716 node EFO_0005592 T-cell leukemia null http://www.ebi.ac.uk/efo/EFO_0005592 node EFO_1000164 Cervical Endometrioid Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000164 node EFO_1000645 orthostatic intolerance null http://www.ebi.ac.uk/efo/EFO_1000645 node CHEBI_47426 furosemide null http://purl.obolibrary.org/obo/CHEBI_47426 node EFO_0003667 obsolete_renal glomerulus null http://www.ebi.ac.uk/efo/EFO_0003667 node EFO_0008114 dynein light chain roadblock-type 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008114 node EFO_0010261 Paganini-Miozzo syndrome null http://www.ebi.ac.uk/efo/EFO_0010261 node EFO_0010742 protein binding measurement null http://www.ebi.ac.uk/efo/EFO_0010742 node EFO_1000458 Parotid Gland Acinic Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000458 node HP_0001347 Hyperreflexia Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less. http://purl.obolibrary.org/obo/HP_0001347 node EFO_0003051 obsolete_calf null http://www.ebi.ac.uk/efo/EFO_0003051 node EFO_0002102 A204 null http://www.ebi.ac.uk/efo/EFO_0002102 node Orphanet_101001 Autosomal recessive spastic paraplegia type 21 null http://www.orpha.net/ORDO/Orphanet_101001 node EFO_0010555 left ventricular stroke volume measurement null http://www.ebi.ac.uk/efo/EFO_0010555 node Orphanet_139450 Microtia - eye coloboma - imperforation of the nasolacrimal duct null http://www.orpha.net/ORDO/Orphanet_139450 node HP_0012759 Neurodevelopmental abnormality This term should be used to describe abnormalities with onset in the developmental period. http://purl.obolibrary.org/obo/HP_0012759 node EFO_0001070 folate deficiency null http://www.ebi.ac.uk/efo/EFO_0001070 node EFO_1000252 Fallopian Tube Carcinosarcoma null http://www.ebi.ac.uk/efo/EFO_1000252 node CHEBI_35569 alpha-adrenergic agonist null http://purl.obolibrary.org/obo/CHEBI_35569 node Orphanet_94090 Pseudohypoparathyroidism type 2 null http://www.orpha.net/ORDO/Orphanet_94090 node Orphanet_367 Glycogen storage disease due to glycogen branching enzyme deficiency null http://www.orpha.net/ORDO/Orphanet_367 node EFO_0003755 FL-cDNA null http://www.ebi.ac.uk/efo/EFO_0003755 node EFO_1000065 Acinar Prostate Mucinous Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000065 node EFO_0000173 obsolete_Ewing family tumor null http://www.ebi.ac.uk/efo/EFO_0000173 node CHEBI_89836 propionylglycine null http://purl.obolibrary.org/obo/CHEBI_89836 node NCBITaxon_2001 Streptosporangium roseum null http://purl.obolibrary.org/obo/NCBITaxon_2001 node EFO_1000546 Spindle Cell Melanoma null http://www.ebi.ac.uk/efo/EFO_1000546 node EFO_0003568 obsolete_floor plate rhombomere 2 null http://www.ebi.ac.uk/efo/EFO_0003568 node EFO_0000017 CS57569 null http://www.ebi.ac.uk/efo/EFO_0000017 node EFO_0010643 Snijders Blok-Campeau syndrome null http://www.ebi.ac.uk/efo/EFO_0010643 node Orphanet_1531 Craniosynostosis null http://www.orpha.net/ORDO/Orphanet_1531 node EFO_0001009 obsolete_apical root meristem null http://www.ebi.ac.uk/efo/EFO_0001009 node Orphanet_91 Aromatase deficiency null http://www.orpha.net/ORDO/Orphanet_91 node EFO_0005128 albumin:globulin ratio measurement null http://www.ebi.ac.uk/efo/EFO_0005128 node EFO_1001106 pigmented villonodular synovitis null http://www.ebi.ac.uk/efo/EFO_1001106 node MONDO_0015857 rare non-malformative gynecologic or obstetric disease null http://purl.obolibrary.org/obo/MONDO_0015857 node EFO_0005536 nitric oxide exhalation measurement null http://www.ebi.ac.uk/efo/EFO_0005536 node EFO_0004609 treatment refractory schizophrenia null http://www.ebi.ac.uk/efo/EFO_0004609 node EO_0007165 growth hormone treatment null http://purl.obolibrary.org/obo/EO_0007165 node UBERON_2001156 posterior lateral line placode null http://purl.obolibrary.org/obo/UBERON_2001156 node EFO_0000719 temporal measurement null http://www.ebi.ac.uk/efo/EFO_0000719 node MONDO_0016009 fetal trimethadione syndrome null http://purl.obolibrary.org/obo/MONDO_0016009 node Orphanet_1062 Hereditary neurocutaneous angioma null http://www.orpha.net/ORDO/Orphanet_1062 node UBERON_0004363 pharyngeal arch artery null http://purl.obolibrary.org/obo/UBERON_0004363 node MONDO_0015009 hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to null http://purl.obolibrary.org/obo/MONDO_0015009 node Orphanet_3406 Ulerythema ophryogenesis null http://www.orpha.net/ORDO/Orphanet_3406 node Orphanet_402075 Familial bicuspid aortic valve null http://www.orpha.net/ORDO/Orphanet_402075 node Orphanet_261349 2p15p16.1 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261349 node EFO_0005216 hepatoma cell line null http://www.ebi.ac.uk/efo/EFO_0005216 node MONDO_0017362 neuralgic amyotrophy null http://purl.obolibrary.org/obo/MONDO_0017362 node PO_0007043 hypocotyl emergence stage null http://purl.obolibrary.org/obo/PO_0007043 node EFO_0010934 aspartate aminotransferase to alanine aminotransferase ratio null http://www.ebi.ac.uk/efo/EFO_0010934 node EFO_0003901 dysuria null http://www.ebi.ac.uk/efo/EFO_0003901 node CL_0000832 eosinophilic myeloblast null http://purl.obolibrary.org/obo/CL_0000832 node EFO_0000326 central nervous system cancer null http://www.ebi.ac.uk/efo/EFO_0000326 node EFO_0005624 ileocolitis null http://www.ebi.ac.uk/efo/EFO_0005624 node EFO_1001007 krebs 2 carcinoma null http://www.ebi.ac.uk/efo/EFO_1001007 node MONDO_0019587 autosomal dominant nonsyndromic deafness null http://purl.obolibrary.org/obo/MONDO_0019587 node MONDO_0013081 lymphoproliferative syndrome 1 null http://purl.obolibrary.org/obo/MONDO_0013081 node MONDO_0013562 aspergillosis, susceptibility to null http://purl.obolibrary.org/obo/MONDO_0013562 node EFO_0005437 array control hybridization quality null http://www.ebi.ac.uk/efo/EFO_0005437 node Orphanet_1150 Arthrogryposis multiplex congenita - whistling face null http://www.orpha.net/ORDO/Orphanet_1150 node Orphanet_183527 Genetic bone tumor null http://www.orpha.net/ORDO/Orphanet_183527 node CL_0000031 neuroblast (sensu Vertebrata) null http://purl.obolibrary.org/obo/CL_0000031 node Orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation null http://www.orpha.net/ORDO/Orphanet_399805 node CHEBI_73067 O-palmitoylcarnitine null http://purl.obolibrary.org/obo/CHEBI_73067 node EFO_0007589 etiolation BTO also lists 'culture condition:dark-grown cell' as has_related_synonym to BTO_0003385 (etiolated plant tissue) http://www.ebi.ac.uk/efo/EFO_0007589 node CHEBI_18035 diglyceride null http://purl.obolibrary.org/obo/CHEBI_18035 node Orphanet_298 Mitochondrial neurogastrointestinal encephalomyopathy null http://www.orpha.net/ORDO/Orphanet_298 node Orphanet_352487 Digital anomalies - intellectual disability - short stature null http://www.orpha.net/ORDO/Orphanet_352487 node Orphanet_48471 Lissencephaly Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pchygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping. http://www.orpha.net/ORDO/Orphanet_48471 node CL_0000252 obsolete microspore replaced_by: PO:0020048 http://purl.obolibrary.org/obo/CL_0000252 node Orphanet_2958 X-linked intellectual disability - dysmorphism - cerebral atrophy null http://www.orpha.net/ORDO/Orphanet_2958 node EFO_1002022 Herpes simplex infection null http://www.ebi.ac.uk/efo/EFO_1002022 node EFO_0005044 Leishmaniasis null http://www.ebi.ac.uk/efo/EFO_0005044 node Orphanet_53698 Hyaline body myopathy null http://www.orpha.net/ORDO/Orphanet_53698 node EFO_0006495 SUIT-2 null http://www.ebi.ac.uk/efo/EFO_0006495 node CHEBI_24852 insecticide null http://purl.obolibrary.org/obo/CHEBI_24852 node Orphanet_86815 Aplasia of lacrimal and salivary glands null http://www.orpha.net/ORDO/Orphanet_86815 node MONDO_0013732 glucocorticoid therapy, response to null http://purl.obolibrary.org/obo/MONDO_0013732 node EFO_0007514 Torovirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007514 node EFO_0008276 scavenger receptor class F member 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008276 node EFO_0007327 infectious myxomatosis null http://www.ebi.ac.uk/efo/EFO_0007327 node Orphanet_3283 His bundle tachycardia null http://www.orpha.net/ORDO/Orphanet_3283 node EFO_0007912 conscientiousness measurement null http://www.ebi.ac.uk/efo/EFO_0007912 node MONDO_0002090 eccrine sweat gland neoplasm null http://purl.obolibrary.org/obo/MONDO_0002090 node MONDO_0001163 paranoid personality disorder null http://purl.obolibrary.org/obo/MONDO_0001163 node Orphanet_352657 Hereditary benign intraepithelial dyskeratosis null http://www.orpha.net/ORDO/Orphanet_352657 node FBbt_00004784 capitellum null http://purl.obolibrary.org/obo/FBbt_00004784 node EFO_0000684 respiratory system disease null http://www.ebi.ac.uk/efo/EFO_0000684 node HP_0002944 Thoracolumbar scoliosis null http://purl.obolibrary.org/obo/HP_0002944 node Orphanet_98518 Cranial nerve and nuclear aplasia null http://www.orpha.net/ORDO/Orphanet_98518 node EFO_0008541 response to opioid null http://www.ebi.ac.uk/efo/EFO_0008541 node Orphanet_33108 Lethal multiple pterygium syndrome null http://www.orpha.net/ORDO/Orphanet_33108 node EFO_1001188 space motion sickness null http://www.ebi.ac.uk/efo/EFO_1001188 node EFO_0002968 embryonic stem cell derived neuronal stem cell null http://www.ebi.ac.uk/efo/EFO_0002968 node EFO_0008364 generational effect measurement null http://www.ebi.ac.uk/efo/EFO_0008364 node EFO_0007415 otitis media with effusion null http://www.ebi.ac.uk/efo/EFO_0007415 node Orphanet_99843 Leukocyte adhesion deficiency type II null http://www.orpha.net/ORDO/Orphanet_99843 node Orphanet_79141 Hereditary painful callosities null http://www.orpha.net/ORDO/Orphanet_79141 node Orphanet_3184 Steatocystoma multiplex - natal teeth null http://www.orpha.net/ORDO/Orphanet_3184 node MONDO_0000119 congenital heart defects, multiple types Genetic heterogeneity of OMIM 306955 which includes CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED lists 614980, 614954 and 615779 as forms of this disease. http://purl.obolibrary.org/obo/MONDO_0000119 node Orphanet_352745 Oculocutaneous albinism type 7 null http://www.orpha.net/ORDO/Orphanet_352745 node Orphanet_158038 Primary hemophagocytic lymphohistiocytosis null http://www.orpha.net/ORDO/Orphanet_158038 node CHEBI_7798 oseltamivir null http://purl.obolibrary.org/obo/CHEBI_7798 node Orphanet_209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) null http://www.orpha.net/ORDO/Orphanet_209185 node HP_0001798 Anonychia Total absence of nails. http://purl.obolibrary.org/obo/HP_0001798 node HP_0005241 Total intestinal aganglionosis null http://purl.obolibrary.org/obo/HP_0005241 node HP_0004933 Ascending aortic dissection According to the Stanford classification, type A aortic dissection affects the ascending aorta and arch. http://purl.obolibrary.org/obo/HP_0004933 node CHEBI_133613 p-hydroxyhippurate null http://purl.obolibrary.org/obo/CHEBI_133613 node EFO_0008452 mid-arm muscle circumference measurement null http://www.ebi.ac.uk/efo/EFO_0008452 node EFO_0004298 cardiovascular measurement null http://www.ebi.ac.uk/efo/EFO_0004298 node CHEBI_39268 dibenzothiazepine null http://purl.obolibrary.org/obo/CHEBI_39268 node Orphanet_67041 Hyaluronidase deficiency null http://www.orpha.net/ORDO/Orphanet_67041 node GO_0043230 extracellular organelle null http://purl.obolibrary.org/obo/GO_0043230 node EFO_0000993 obsolete_leaf null http://www.ebi.ac.uk/efo/EFO_0000993 node CLO_0013836 GM17203 null http://purl.obolibrary.org/obo/CLO_0013836 node EFO_1001089 partial motor epilepsy null http://www.ebi.ac.uk/efo/EFO_1001089 node EFO_0000830 obsolete_taste system null http://www.ebi.ac.uk/efo/EFO_0000830 node EFO_0008194 kallikrein-12 measurement null http://www.ebi.ac.uk/efo/EFO_0008194 node Orphanet_369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies null http://www.orpha.net/ORDO/Orphanet_369897 node CHEBI_85869 triacylglycerol 46:1 null http://purl.obolibrary.org/obo/CHEBI_85869 node CHEBI_66859 phosphatidylcholine 38:2 null http://purl.obolibrary.org/obo/CHEBI_66859 node EFO_0009308 response to long-chain n-3 PUFA dietary supplementation null http://www.ebi.ac.uk/efo/EFO_0009308 node UBERON_0009676 early telencephalic vesicle null http://purl.obolibrary.org/obo/UBERON_0009676 node EFO_0003358 obsolete_sensory nervous system primordium null http://www.ebi.ac.uk/efo/EFO_0003358 node NCBITaxon_7215 Drosophila null http://purl.obolibrary.org/obo/NCBITaxon_7215 node EFO_0002507 ovarian adenoma benign null http://www.ebi.ac.uk/efo/EFO_0002507 node EFO_0001021 obsolete_seed coat null http://www.ebi.ac.uk/efo/EFO_0001021 node CLO_0013924 GM17219 null http://purl.obolibrary.org/obo/CLO_0013924 node Orphanet_2332 KBG syndrome null http://www.orpha.net/ORDO/Orphanet_2332 node NCBITaxon_3469 Papaver somniferum null http://purl.obolibrary.org/obo/NCBITaxon_3469 node HP_0011380 Morphological abnormality of the semicircular canal null http://purl.obolibrary.org/obo/HP_0011380 node Orphanet_177926 Symptomatic form of hemophilia A in female carriers null http://www.orpha.net/ORDO/Orphanet_177926 node EFO_1000810 anterior spinal artery syndrome null http://www.ebi.ac.uk/efo/EFO_1000810 node EFO_0003832 gallbladder disease null http://www.ebi.ac.uk/efo/EFO_0003832 node Orphanet_444 Marie Unna hereditary hypotrichosis null http://www.orpha.net/ORDO/Orphanet_444 node EFO_0004621 vitamin B6 measurement null http://www.ebi.ac.uk/efo/EFO_0004621 node EFO_0000731 uterine fibroid null http://www.ebi.ac.uk/efo/EFO_0000731 node MONDO_0017611 pituitary tumor null http://purl.obolibrary.org/obo/MONDO_0017611 node Orphanet_77830 Rare genetic odontologic disease null http://www.orpha.net/ORDO/Orphanet_77830 node EFO_0004550 amygdala reactivity measurement null http://www.ebi.ac.uk/efo/EFO_0004550 node MONDO_0016507 rare surgically correctable form of primary aldosteronism null http://purl.obolibrary.org/obo/MONDO_0016507 node Orphanet_217396 Progressive demyelinating neuropathy with bilateral striatal necrosis null http://www.orpha.net/ORDO/Orphanet_217396 node EFO_1001259 Adenoviridae Infections null http://www.ebi.ac.uk/efo/EFO_1001259 node EFO_0003446 obsolete_presumptive midbrain hindbrain boundary null http://www.ebi.ac.uk/efo/EFO_0003446 node NCBITaxon_10112 Mastomys natalensis null http://purl.obolibrary.org/obo/NCBITaxon_10112 node EFO_0010040 Nano-hmC-Seal null http://www.ebi.ac.uk/efo/EFO_0010040 node EFO_0005689 non-high density lipoprotein cholesterol measurement null http://www.ebi.ac.uk/efo/EFO_0005689 node EFO_0008209 leukocyte immunoglobulin-like receptor subfamily B member 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008209 node EFO_0007994 neutrophil percentage of granulocytes null http://www.ebi.ac.uk/efo/EFO_0007994 node CHEBI_22586 antioxidant null http://purl.obolibrary.org/obo/CHEBI_22586 node EFO_0003920 obsolete_cleft palate null http://www.ebi.ac.uk/efo/EFO_0003920 node CHEBI_73040 O-glutarylcarnitine null http://purl.obolibrary.org/obo/CHEBI_73040 node Orphanet_1240 Metaphyseal acroscyphodysplasia null http://www.orpha.net/ORDO/Orphanet_1240 node MONDO_0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor null http://purl.obolibrary.org/obo/MONDO_0015067 node HP_0001600 Abnormality of the larynx null http://purl.obolibrary.org/obo/HP_0001600 node EFO_0003053 obsolete_forearm null http://www.ebi.ac.uk/efo/EFO_0003053 node UBERON_0004744 articular/anguloarticular null http://purl.obolibrary.org/obo/UBERON_0004744 node UBERON_0002331 umbilical cord See notes for connecting stalk http://purl.obolibrary.org/obo/UBERON_0002331 node Orphanet_82004 Ehlers-Danlos syndrome with periventricular heterotopia null http://www.orpha.net/ORDO/Orphanet_82004 node Orphanet_1948 Epilepsy - microcephaly - skeletal dysplasia null http://www.orpha.net/ORDO/Orphanet_1948 node Orphanet_620 Common mesentery null http://www.orpha.net/ORDO/Orphanet_620 node Orphanet_163721 Rolandic epilepsy - speech dyspraxia null http://www.orpha.net/ORDO/Orphanet_163721 node UBERON_0004905 articulation null http://purl.obolibrary.org/obo/UBERON_0004905 node HP_0030211 Slow pupillary light response null http://purl.obolibrary.org/obo/HP_0030211 node NCBITaxon_10487 Iridovirus null http://purl.obolibrary.org/obo/NCBITaxon_10487 node EFO_1000407 Olfactory Neuroblastoma null http://www.ebi.ac.uk/efo/EFO_1000407 node CL_0002334 preadipocyte null http://purl.obolibrary.org/obo/CL_0002334 node EFO_0010504 inositol measurement null http://www.ebi.ac.uk/efo/EFO_0010504 node MONDO_0011377 long QT syndrome 3 null http://purl.obolibrary.org/obo/MONDO_0011377 node Orphanet_398173 Focal facial dermal dysplasia type II null http://www.orpha.net/ORDO/Orphanet_398173 node EFO_0010327 rostral anterior cingulate cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010327 node Orphanet_1849 Infundibulopelvic stenosis - multicystic kidney null http://www.orpha.net/ORDO/Orphanet_1849 node Orphanet_95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone null http://www.orpha.net/ORDO/Orphanet_95700 node CLO_0013210 GM17279 null http://purl.obolibrary.org/obo/CLO_0013210 node Orphanet_401953 Episodic ataxia with slurred speech null http://www.orpha.net/ORDO/Orphanet_401953 node Orphanet_2854 Fuhrmann syndrome null http://www.orpha.net/ORDO/Orphanet_2854 node EFO_1000014 acidosis null http://www.ebi.ac.uk/efo/EFO_1000014 node NCBITaxon_338 Xanthomonas null http://purl.obolibrary.org/obo/NCBITaxon_338 node EFO_0002899 microgram per kilogram null http://www.ebi.ac.uk/efo/EFO_0002899 node HP_0000766 Abnormal sternum morphology null http://purl.obolibrary.org/obo/HP_0000766 node MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder null http://purl.obolibrary.org/obo/MONDO_0018386 node GO_0031410 cytoplasmic vesicle null http://purl.obolibrary.org/obo/GO_0031410 node EFO_0004444 environmental history null http://www.ebi.ac.uk/efo/EFO_0004444 node EFO_0003517 obsolete_preopercle null http://www.ebi.ac.uk/efo/EFO_0003517 node MONDO_0014916 developmental and epileptic encephalopathy, 41 null http://purl.obolibrary.org/obo/MONDO_0014916 node EFO_0010111 acetoacetate measurement null http://www.ebi.ac.uk/efo/EFO_0010111 node EFO_0007290 Goodpasture syndrome null http://www.ebi.ac.uk/efo/EFO_0007290 node CL_0002422 enucleated reticulocyte null http://purl.obolibrary.org/obo/CL_0002422 node EFO_1000318 Langerhans Cell Histiocytosis We follow NCIT in classifying this as a neoplasm but this may be revisited http://www.ebi.ac.uk/efo/EFO_1000318 node Orphanet_98592 Palpebral tumor with a vascular malformation null http://www.orpha.net/ORDO/Orphanet_98592 node Orphanet_280628 Familial progressive hyper- and hypopigmentation null http://www.orpha.net/ORDO/Orphanet_280628 node CLO_0029036 ND06229 null http://purl.obolibrary.org/obo/CLO_0029036 node Orphanet_268865 Neurenteric cyst null http://www.orpha.net/ORDO/Orphanet_268865 node Orphanet_2016 Cleft palate-lateral synechia syndrome null http://www.orpha.net/ORDO/Orphanet_2016 node EFO_1000102 B-Cell Prolymphocytic Leukemia null http://www.ebi.ac.uk/efo/EFO_1000102 node NCBITaxon_11590 Toscana virus null http://purl.obolibrary.org/obo/NCBITaxon_11590 node EFO_0002987 ILSXISS51/TejJ null http://www.ebi.ac.uk/efo/EFO_0002987 node Orphanet_178145 Moderate multiminicore disease with hand involvement null http://www.orpha.net/ORDO/Orphanet_178145 node HP_0012075 Personality disorder A Personality disorder is generally associated with significant problems and limitations in relationships, social encounters, work and school. It is usually manifest since childhood or adolescence and continues throughout adulthood. http://purl.obolibrary.org/obo/HP_0012075 node MONDO_0001721 urethral intrinsic sphincter deficiency null http://purl.obolibrary.org/obo/MONDO_0001721 node EFO_0006274 DT40 null http://www.ebi.ac.uk/efo/EFO_0006274 node MONDO_0016693 subependymal giant cell astrocytoma null http://purl.obolibrary.org/obo/MONDO_0016693 node EFO_0007191 cannabis dependence null http://www.ebi.ac.uk/efo/EFO_0007191 node Orphanet_308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency null http://www.orpha.net/ORDO/Orphanet_308425 node EFO_0006650 MHH-ES-1 null http://www.ebi.ac.uk/efo/EFO_0006650 node Orphanet_216978 Niemann-Pick disease type C, late infantile neurologic onset null http://www.orpha.net/ORDO/Orphanet_216978 node MONDO_0000376 respiratory system cancer null http://purl.obolibrary.org/obo/MONDO_0000376 node EFO_0006497 transitional cell papilloma null http://www.ebi.ac.uk/efo/EFO_0006497 node EFO_0009718 peak expiratory flow null http://www.ebi.ac.uk/efo/EFO_0009718 node MONDO_0013511 cyanosis, transient neonatal null http://purl.obolibrary.org/obo/MONDO_0013511 node Orphanet_97229 Riboflavin transporter deficiency null http://www.orpha.net/ORDO/Orphanet_97229 node Orphanet_268766 Cervicothoracic spina bifida cystica null http://www.orpha.net/ORDO/Orphanet_268766 node CHEBI_61276 scopolamine methobromide null http://purl.obolibrary.org/obo/CHEBI_61276 node UBERON_0009472 axilla null http://purl.obolibrary.org/obo/UBERON_0009472 node HP_0010863 Receptive language delay null http://purl.obolibrary.org/obo/HP_0010863 node NCBITaxon_5037 Ajellomyces capsulatus null http://purl.obolibrary.org/obo/NCBITaxon_5037 node Orphanet_98563 Microblepharon - ablephara null http://www.orpha.net/ORDO/Orphanet_98563 node FBbt_00005536 stomatogastric nervous system primordium null http://purl.obolibrary.org/obo/FBbt_00005536 node EFO_1001353 Klebsiella Infections null http://www.ebi.ac.uk/efo/EFO_1001353 node EFO_0008278 semaphorin-3A measurement null http://www.ebi.ac.uk/efo/EFO_0008278 node EFO_0001654 basal null http://www.ebi.ac.uk/efo/EFO_0001654 node EFO_0005783 NUT midline carcinoma null http://www.ebi.ac.uk/efo/EFO_0005783 node EFO_0008759 GTI-Seq null http://www.ebi.ac.uk/efo/EFO_0008759 node EFO_0009806 total hip arthroplasty null http://www.ebi.ac.uk/efo/EFO_0009806 node EFO_0001958 joint component null http://www.ebi.ac.uk/efo/EFO_0001958 node HP_0002536 Abnormal cortical gyration null http://purl.obolibrary.org/obo/HP_0002536 node Orphanet_1790 Hypomandibular faciocranial dysostosis null http://www.orpha.net/ORDO/Orphanet_1790 node UBERON_0001783 optic disc null http://purl.obolibrary.org/obo/UBERON_0001783 node EFO_0009060 Spinocerebellar ataxia type 43 null http://www.ebi.ac.uk/efo/EFO_0009060 node EFO_0001268 mating type null http://www.ebi.ac.uk/efo/EFO_0001268 node EFO_0008543 c3d:C3 ratio null http://www.ebi.ac.uk/efo/EFO_0008543 node GO_0034641 cellular nitrogen compound metabolic process null http://purl.obolibrary.org/obo/GO_0034641 node EFO_0009388 sum of basophil and neutrophil counts null http://www.ebi.ac.uk/efo/EFO_0009388 node MONDO_0002245 blood platelet disease null http://purl.obolibrary.org/obo/MONDO_0002245 node EFO_0008366 IgG isotype profile measurement null http://www.ebi.ac.uk/efo/EFO_0008366 node EFO_0001742 publication status null http://www.ebi.ac.uk/efo/EFO_0001742 node CHEBI_6820 methapyrilene null http://purl.obolibrary.org/obo/CHEBI_6820 node MONDO_0014888 MIRAGE syndrome null http://purl.obolibrary.org/obo/MONDO_0014888 node HP_0002624 Abnormal venous morphology null http://purl.obolibrary.org/obo/HP_0002624 node EFO_1000096 Atrophy null http://www.ebi.ac.uk/efo/EFO_1000096 node Orphanet_401840 Autosomal recessive spastic paraplegia type 71 null http://www.orpha.net/ORDO/Orphanet_401840 node EFO_0008631 PacBio RS II null http://www.ebi.ac.uk/efo/EFO_0008631 node OMIT_0015368 Uridine Diphosphate Glucose null http://purl.obolibrary.org/obo/OMIT_0015368 node EFO_0008454 short physical performance battery score measurement null http://www.ebi.ac.uk/efo/EFO_0008454 node GO_0070062 extracellular vesicular exosome null http://purl.obolibrary.org/obo/GO_0070062 node HP_0001279 Syncope null http://purl.obolibrary.org/obo/HP_0001279 node CLO_0010526 GM08398 null http://purl.obolibrary.org/obo/CLO_0010526 node Orphanet_231393 Beta-thalassemia - X-linked thrombocytopenia null http://www.orpha.net/ORDO/Orphanet_231393 node EFO_1001817 ocular posterior capsular rupture null http://www.ebi.ac.uk/efo/EFO_1001817 node NCBITaxon_13442 Coffea null http://purl.obolibrary.org/obo/NCBITaxon_13442 node EFO_1000798 adrenal rest tumor null http://www.ebi.ac.uk/efo/EFO_1000798 node EFO_0000269 array design null http://www.ebi.ac.uk/efo/EFO_0000269 node EFO_0010895 stromal cell of lamina propria of small intestine null http://www.ebi.ac.uk/efo/EFO_0010895 node MONDO_0011789 familial meningioma null http://purl.obolibrary.org/obo/MONDO_0011789 node EFO_1000203 Conjunctival Disorder null http://www.ebi.ac.uk/efo/EFO_1000203 node EFO_0010739 epilepsy, early-onset, with or without developmental delay null http://www.ebi.ac.uk/efo/EFO_0010739 node EFO_0010258 inflammatory bowel disease, immunodeficiency, and encephalopathy null http://www.ebi.ac.uk/efo/EFO_0010258 node CHEBI_16602 trichloroethylene null http://purl.obolibrary.org/obo/CHEBI_16602 node EFO_0004152 chorea null http://www.ebi.ac.uk/efo/EFO_0004152 node MONDO_0016608 megalencephaly (disease) null http://purl.obolibrary.org/obo/MONDO_0016608 node EFO_0008055 C-C motif chemokine 8 measurement null http://www.ebi.ac.uk/efo/EFO_0008055 node EFO_0003706 obsolete_trabecular layer null http://www.ebi.ac.uk/efo/EFO_0003706 node EFO_1000582 Thymoma Type AB null http://www.ebi.ac.uk/efo/EFO_1000582 node EFO_0003611 obsolete_caudal division of the internal carotid artery null http://www.ebi.ac.uk/efo/EFO_0003611 node Orphanet_223 Nephrogenic diabetes insipidus null http://www.orpha.net/ORDO/Orphanet_223 node CHEBI_27779 griseofulvin null http://purl.obolibrary.org/obo/CHEBI_27779 node EFO_1001905 Oxidative Stress null http://www.ebi.ac.uk/efo/EFO_1001905 node NCBITaxon_7217 Drosophila ananassae null http://purl.obolibrary.org/obo/NCBITaxon_7217 node EFO_0000357 obsolete_cochlea structure null http://www.ebi.ac.uk/efo/EFO_0000357 node EFO_1000249 Extramammary Paget Disease null http://www.ebi.ac.uk/efo/EFO_1000249 node EFO_1001038 melanotic neuroectodermal tumor null http://www.ebi.ac.uk/efo/EFO_1001038 node EFO_0002266 NCI-H1792 null http://www.ebi.ac.uk/efo/EFO_0002266 node EFO_0001339 CB6F1 null http://www.ebi.ac.uk/efo/EFO_0001339 node EFO_0010346 cholesteryl ester 18:3 measurement null http://www.ebi.ac.uk/efo/EFO_0010346 node MONDO_0004386 uterine corpus atypical polypoid adenomyoma null http://purl.obolibrary.org/obo/MONDO_0004386 node Orphanet_93610 Distal renal tubular acidosis with anemia null http://www.orpha.net/ORDO/Orphanet_93610 node CL_0000057 fibroblast These cells may be vimentin-positive, fibronectin-positive, fsp1-positive, MMP-1-positive, collagen I-positive, collagen III-positive, and alpha-SMA-negative. http://purl.obolibrary.org/obo/CL_0000057 node CHEBI_28794 coumarin null http://purl.obolibrary.org/obo/CHEBI_28794 node IAO_0000101 image null http://purl.obolibrary.org/obo/IAO_0000101 node EFO_0005942 chemotherapy-induced hypertension null http://www.ebi.ac.uk/efo/EFO_0005942 node Orphanet_93405 Syndactyly type 4 null http://www.orpha.net/ORDO/Orphanet_93405 node MONDO_0054733 spermatogenic failure 29 null http://purl.obolibrary.org/obo/MONDO_0054733 node NCBITaxon_119676 Arthroderma obtusum null http://purl.obolibrary.org/obo/NCBITaxon_119676 node Orphanet_183500 Genetic neurodegenerative disease null http://www.orpha.net/ORDO/Orphanet_183500 node NCBITaxon_28081 Bordetella sp. null http://purl.obolibrary.org/obo/NCBITaxon_28081 node CL_0000946 antibody secreting cell null http://purl.obolibrary.org/obo/CL_0000946 node NCBITaxon_198504 Spartina x townsendii null http://purl.obolibrary.org/obo/NCBITaxon_198504 node CHEBI_9288 streptozotocin null http://purl.obolibrary.org/obo/CHEBI_9288 node Orphanet_100071 Mosaic trisomy 3 null http://www.orpha.net/ORDO/Orphanet_100071 node MONDO_0024298 vitamin deficiency disorder null http://purl.obolibrary.org/obo/MONDO_0024298 node EFO_0002354 SUDHL10 null http://www.ebi.ac.uk/efo/EFO_0002354 node Orphanet_308993 Glycerol kinase deficiency null http://www.orpha.net/ORDO/Orphanet_308993 node HP_0003298 Spina bifida occulta May be asymptomatic. http://purl.obolibrary.org/obo/HP_0003298 node PATO_0001384 hexaploid null http://purl.obolibrary.org/obo/PATO_0001384 node UBERON_0001008 renal system null http://purl.obolibrary.org/obo/UBERON_0001008 node MONDO_0010292 Uruguay Faciocardiomusculoskeletal syndrome null http://purl.obolibrary.org/obo/MONDO_0010292 node EFO_0010191 5 prime end bias null http://www.ebi.ac.uk/efo/EFO_0010191 node CL_0000553 megakaryocyte progenitor cell Lineage negative is described here as CD2-negative, CD3-negative, CD4-negative, CD5-negative, CD8a-negative, CD14-negative, CD19-negative, CD20-negative, CD56-negative, Ly6g-negative, and Ter119-negative. http://purl.obolibrary.org/obo/CL_0000553 node CHEBI_17282 3-(indol-3-yl)lactate null http://purl.obolibrary.org/obo/CHEBI_17282 node GO_0090331 negative regulation of platelet aggregation null http://purl.obolibrary.org/obo/GO_0090331 node EFO_0004135 obsolete_Machado-Joseph disease null http://www.ebi.ac.uk/efo/EFO_0004135 node HP_0008513 Bilateral conductive hearing impairment null http://purl.obolibrary.org/obo/HP_0008513 node CL_0002113 B220-low CD38-negative unswitched memory B cell null http://purl.obolibrary.org/obo/CL_0002113 node UBERON_0007294 presumptive rhombomere 7 null http://purl.obolibrary.org/obo/UBERON_0007294 node MONDO_0019050 inherited hemoglobinopathy null http://purl.obolibrary.org/obo/MONDO_0019050 node HP_0008734 Decreased testicular size null http://purl.obolibrary.org/obo/HP_0008734 node MONDO_0001697 reading disorder null http://purl.obolibrary.org/obo/MONDO_0001697 node CL_2000074 splenocyte Splenocytes is a vague term that refers to any one of the different white blood cell types in the spleen. This name is seen many references as such and is not explained further, necessitating a need for this terminology. http://purl.obolibrary.org/obo/CL_2000074 node EFO_0008732 epiGBS null http://www.ebi.ac.uk/efo/EFO_0008732 node EFO_0002678 tempol null http://www.ebi.ac.uk/efo/EFO_0002678 node Orphanet_156212 Hypoglossia/aglossia null http://www.orpha.net/ORDO/Orphanet_156212 node EFO_0007628 gas trapping measurement null http://www.ebi.ac.uk/efo/EFO_0007628 node EFO_0004223 obsolete_Keratoconus null http://www.ebi.ac.uk/efo/EFO_0004223 node HP_0000358 Posteriorly rotated ears Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age. http://purl.obolibrary.org/obo/HP_0000358 node Orphanet_53719 Wyburn-Mason syndrome null http://www.orpha.net/ORDO/Orphanet_53719 node EFO_0004036 mating type h plus null http://www.ebi.ac.uk/efo/EFO_0004036 node EFO_0009776 ornithine measurement null http://www.ebi.ac.uk/efo/EFO_0009776 node UBERON_0003050 olfactory placode Olfactory placodes are the only ectodermal placodes to produce glia, a cell type typically derived from neural crest // Note that NBK53171 classifies this as non-neurogenic http://purl.obolibrary.org/obo/UBERON_0003050 node MONDO_0024306 acquired lactic acidosis null http://purl.obolibrary.org/obo/MONDO_0024306 node CL_0002014 Kit-negative, Ly-76 high basophilic erythroblast Cell surface markers are associated with mouse cells. http://purl.obolibrary.org/obo/CL_0002014 node UO_0000097 cubic centimeter null http://purl.obolibrary.org/obo/UO_0000097 node EFO_0008820 Mosaic-Seq null http://www.ebi.ac.uk/efo/EFO_0008820 node EFO_0008633 ONT GridION X5 null http://www.ebi.ac.uk/efo/EFO_0008633 node EFO_0005250 occupation-related stress disorder null http://www.ebi.ac.uk/efo/EFO_0005250 node Orphanet_92050 Intestinal epithelial dysplasia null http://www.orpha.net/ORDO/Orphanet_92050 node Orphanet_251282 Autosomal dominant spastic ataxia type 1 null http://www.orpha.net/ORDO/Orphanet_251282 node HP_0000446 Narrow nasal bridge The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age. http://purl.obolibrary.org/obo/HP_0000446 node EFO_0005073 in situ oligo null http://www.ebi.ac.uk/efo/EFO_0005073 node EFO_0009864 metabolic network measurement null http://www.ebi.ac.uk/efo/EFO_0009864 node CLO_0016490 GM17799 null http://purl.obolibrary.org/obo/CLO_0016490 node EFO_0007909 CHGA cleavage product measurement null http://www.ebi.ac.uk/efo/EFO_0007909 node MONDO_0019514 hepatic veno-occlusive disease null http://purl.obolibrary.org/obo/MONDO_0019514 node HP_0001771 Achilles tendon contracture null http://purl.obolibrary.org/obo/HP_0001771 node UO_0000185 degree null http://purl.obolibrary.org/obo/UO_0000185 node CHEBI_64162 N-methylquipazine dimaleate null http://purl.obolibrary.org/obo/CHEBI_64162 node CHEBI_28216 methyl mercuric(II) chloride null http://purl.obolibrary.org/obo/CHEBI_28216 node MONDO_0002087 peritoneum cancer null http://purl.obolibrary.org/obo/MONDO_0002087 node Orphanet_275777 Heritable pulmonary arterial hypertension null http://www.orpha.net/ORDO/Orphanet_275777 node Orphanet_140976 RHYNS syndrome null http://www.orpha.net/ORDO/Orphanet_140976 node EFO_0006276 GM15850 null http://www.ebi.ac.uk/efo/EFO_0006276 node EFO_1000771 subcorneal pustular dermatosis null http://www.ebi.ac.uk/efo/EFO_1000771 node HP_0000528 Anophthalmia null http://purl.obolibrary.org/obo/HP_0000528 node EFO_0009670 gingival disease null http://www.ebi.ac.uk/efo/EFO_0009670 node MONDO_0003350 granular cell leiomyosarcoma null http://purl.obolibrary.org/obo/MONDO_0003350 node MONDO_0027767 partial lipodystrophy null http://purl.obolibrary.org/obo/MONDO_0027767 node EFO_0008924 Simul-seq null http://www.ebi.ac.uk/efo/EFO_0008924 node GO_0005758 mitochondrial intermembrane space null http://purl.obolibrary.org/obo/GO_0005758 node NCBITaxon_515622 Butyrivibrio proteoclasticus B316 null http://purl.obolibrary.org/obo/NCBITaxon_515622 node Orphanet_391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome null http://www.orpha.net/ORDO/Orphanet_391408 node EFO_0000944 obsolete_exoskeleton null http://www.ebi.ac.uk/efo/EFO_0000944 node EFO_0003863 urogenital neoplasm null http://www.ebi.ac.uk/efo/EFO_0003863 node NCBITaxon_57329 Piriqueta cistoides subsp. caroliniana null http://purl.obolibrary.org/obo/NCBITaxon_57329 node EFO_1000173 Cervical Wilms Tumor null http://www.ebi.ac.uk/efo/EFO_1000173 node EFO_1000654 childhood cancer null http://www.ebi.ac.uk/efo/EFO_1000654 node GO_0007051 spindle organization null http://purl.obolibrary.org/obo/GO_0007051 node HP_0000616 Miosis null http://purl.obolibrary.org/obo/HP_0000616 node EFO_0009553 HIV-associated cancer null http://www.ebi.ac.uk/efo/EFO_0009553 node EFO_0005399 high content analysis of cells by morphological and physical properties null http://www.ebi.ac.uk/efo/EFO_0005399 node Orphanet_79401 Epidermolysis bullosa simplex, Ogna type null http://www.orpha.net/ORDO/Orphanet_79401 node Orphanet_2633 Mesomelic dwarfism, Nievergelt type null http://www.orpha.net/ORDO/Orphanet_2633 node Orphanet_228387 Spondylo-megaepiphyseal-metaphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_228387 node MONDO_0001308 corneal deposit Editor note: consider placing in HPO http://purl.obolibrary.org/obo/MONDO_0001308 node Orphanet_289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation null http://www.orpha.net/ORDO/Orphanet_289266 node Orphanet_745 Hereditary thrombophilia due to congenital protein C deficiency null http://www.orpha.net/ORDO/Orphanet_745 node EFO_0007012 NSAID use measurement null http://www.ebi.ac.uk/efo/EFO_0007012 node Orphanet_319514 Combined oxidative phosphorylation defect type 13 null http://www.orpha.net/ORDO/Orphanet_319514 node EFO_0003951 percutaneous transluminal coronary angioplasty null http://www.ebi.ac.uk/efo/EFO_0003951 node EFO_0000827 obsolete_eye structure null http://www.ebi.ac.uk/efo/EFO_0000827 node EFO_1000261 Follicular Variant Thyroid Gland Papillary Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000261 node MONDO_0003478 childhood ependymoma null http://purl.obolibrary.org/obo/MONDO_0003478 node EFO_1000742 nodular nonsuppurative panniculitis null http://www.ebi.ac.uk/efo/EFO_1000742 node EFO_0003764 transient ischemic attack null http://www.ebi.ac.uk/efo/EFO_0003764 node Orphanet_93580 Atypical hemolytic-uremic syndrome with I factor anomaly null http://www.orpha.net/ORDO/Orphanet_93580 node Orphanet_833 Encephalopathy due to sulfite oxidase deficiency null http://www.orpha.net/ORDO/Orphanet_833 node HP_0100783 Breast aplasia null http://purl.obolibrary.org/obo/HP_0100783 node NCBITaxon_90988 Pimephales promelas null http://purl.obolibrary.org/obo/NCBITaxon_90988 node EFO_1000963 hemopneumothorax null http://www.ebi.ac.uk/efo/EFO_1000963 node EFO_0001018 lateral shoot meristem null http://www.ebi.ac.uk/efo/EFO_0001018 node Orphanet_646 Niemann-Pick disease type C null http://www.orpha.net/ORDO/Orphanet_646 node Orphanet_294977 Congenital absence of thigh and lower leg with foot present null http://www.orpha.net/ORDO/Orphanet_294977 node EFO_0000434 ecotype null http://www.ebi.ac.uk/efo/EFO_0000434 node EFO_0004805 formal thought disorder null http://www.ebi.ac.uk/efo/EFO_0004805 node Orphanet_216828 Osteogenesis imperfecta type 5 null http://www.orpha.net/ORDO/Orphanet_216828 node Orphanet_1336 Hyperkeratosis-hyperpigmentation syndrome null http://www.orpha.net/ORDO/Orphanet_1336 node EFO_1001320 Exanthema Subitum null http://www.ebi.ac.uk/efo/EFO_1001320 node EFO_0000915 obsolete_occipital lobe null http://www.ebi.ac.uk/efo/EFO_0000915 node EFO_1001115 POEMS syndrome POEMS syndrome is associated with plasmacytomas and osteosclerotic lesions. The etiologic factors of this constellation of diseases are not well defined, but radiation therapy to localized lesions is often of benefit, and there is a report that autologous hematopoetic cell transplantation benefited a patient with refractory disease. http://www.ebi.ac.uk/efo/EFO_1001115 node MONDO_0100096 COVID-19 null http://purl.obolibrary.org/obo/MONDO_0100096 node EFO_0005545 congenital disorder of glycosylation type I null http://www.ebi.ac.uk/efo/EFO_0005545 node EFO_0004618 vitamin K measurement null http://www.ebi.ac.uk/efo/EFO_0004618 node NCBITaxon_258594 Rhodopseudomonas palustris CGA009 null http://purl.obolibrary.org/obo/NCBITaxon_258594 node EFO_0001907 dorsal skin null http://www.ebi.ac.uk/efo/EFO_0001907 node NCBITaxon_2160 Methanobacterium null http://purl.obolibrary.org/obo/NCBITaxon_2160 node EFO_0002824 HCT116 null http://www.ebi.ac.uk/efo/EFO_0002824 node EFO_0008220 macrophage metalloelastase measurement null http://www.ebi.ac.uk/efo/EFO_0008220 node CL_0000802 CD8-alpha alpha positive, gamma-delta intraepithelial T cell null http://purl.obolibrary.org/obo/CL_0000802 node EFO_0010037 INTACT null http://www.ebi.ac.uk/efo/EFO_0010037 node EFO_0003004 ILSXISS103/TejJ null http://www.ebi.ac.uk/efo/EFO_0003004 node Orphanet_93339 Polydactyly of a biphalangeal thumb null http://www.orpha.net/ORDO/Orphanet_93339 node UBERON_0001474 bone element null http://purl.obolibrary.org/obo/UBERON_0001474 node EFO_0001106 obsolete_GLI72 null http://www.ebi.ac.uk/efo/EFO_0001106 node FMA_66762 synovial membrane null http://purl.obolibrary.org/obo/FMA_66762 node EFO_1001203 suppurative uveitis null http://www.ebi.ac.uk/efo/EFO_1001203 node EFO_0002431 tumour of cranial and spinal nerves null http://www.ebi.ac.uk/efo/EFO_0002431 node EFO_0005633 ATC Code A Alimentary tract and metabolism A ALIMENTARY TRACT AND METABOLISM A01 STOMATOLOGICAL PREPARATIONS A02 DRUGS FOR ACID RELATED DISORDERS A03 DRUGS FOR FUNCTIONAL GASTROINTESTINAL DISORDERS A major part of the preparations in this group are combined preparations. Preparations containing e.g. analgesics and antispasmodics could be classified either in this group or in N02 - Analgesics. Combinations of psycholeptics and antispasmodics could be classified in A03 or in N05 - Psycholeptics etc. The main indication for the use of the combination will, together with the relative effect of the active components, decide the classification. In the treatment of pain caused by spasms, the spasmolytic component must be judged as more important than the analgesic component. Accordingly, analgesic/antispasmodic combinations should be classified in A03 if the main effect of the preparation is the antispasmodic action. Combined preparations are classified in: A03C - Antispasmodics in combination with psycholeptics A03D - Antispasmodics in combination with analgesics A03E - Antispasmodics and anticholinergics in combination with other drugs Antispasmodics, which are used specifically in the urogenital tractus, are classified in G04BD - Drugs for urinary frequency and incontinence. The DDD is equal for different routes of administration (oral, parenteral or rectal) of the same compound and is based on the oral dose. A04 ANTIEMETICS AND ANTINAUSEANTS A05 BILE AND LIVER THERAPY A06 DRUGS FOR CONSTIPATION A07 ANTIDIARRHEALS, INTESTINAL ANTIINFLAMMATORY/ANTIINFECTIVE AGENTS A08 ANTIOBESITY PREPARATIONS, EXCL. DIET PRODUCTS A09 DIGESTIVES, INCL. ENZYMES A10 DRUGS USED IN DIABETES A11 VITAMINS Vitamins constitute a comprehensive group of therapeutic and prophylactic preparations. Before classifying any product it is important to be familiar with the main subdivision of the group. It may be necessary to consider whether a product is a vitamin preparation with iron or an iron preparation with vitamins, a mineral preparation with vitamins or a vitamin preparation with minerals, or if the product should be regarded as a tonic etc. As an aid to such considerations, guidelines are given at each sublevel. Vitamin B12 is classified in B03 - Antianemic preparations. Vitamin K is classified in B02 - Antihemorrhagics. Vitamins administered as i.v. solution additives, see B05XC. Some definitions: Multivitamins: Products containing minimum vitamins A, B, C and D. One B-vitamin is sufficient. B-complex: Products containing minimum thiamine, riboflavine, pyridoxine, nicotinamide. The products may contain other B-vitamins. A12 MINERAL SUPPLEMENTS This group contains mineral supplements used for treatment of mineral deficiency. Magnesium carbonate used for treatment of mineral deficiency is classified in A02AA01. A13 TONICS A14 ANABOLIC AGENTS FOR SYSTEMIC USE A15 APPETITE STIMULANTS This group comprises preparations only used as appetite stimulants. A number of drugs with other main actions may have appetite stimulating properties. Cyproheptadine, also used as an appetite stimulant in children, is classified in R06AX. Pizotifen is classified in N02CX. No DDDs are established in this group. A16 OTHER ALIMENTARY TRACT AND METABOLISM PRODUCTS http://www.ebi.ac.uk/efo/EFO_0005633 node MONDO_0033014 erythrokeratodermia variabilis et progressiva 4 null http://purl.obolibrary.org/obo/MONDO_0033014 node EFO_0002912 characterization of functional areas of human genome null http://www.ebi.ac.uk/efo/EFO_0002912 node EFO_0004154 Sequence Read Format (SRF) null http://www.ebi.ac.uk/efo/EFO_0004154 node FMA_3832 distal portion of right coronary artery null http://purl.obolibrary.org/obo/FMA_3832 node Orphanet_94065 15q24 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_94065 node EFO_0006554 COLO 206F null http://www.ebi.ac.uk/efo/EFO_0006554 node Orphanet_1822 Dysplasia epiphysealis hemimelica null http://www.orpha.net/ORDO/Orphanet_1822 node EFO_1001448 Ventricular Outflow Obstruction null http://www.ebi.ac.uk/efo/EFO_1001448 node CHEBI_4918 methyleugenol null http://purl.obolibrary.org/obo/CHEBI_4918 node EFO_0002045 BC-2 null http://www.ebi.ac.uk/efo/EFO_0002045 node EFO_0007785 femoral neck bone mineral density null http://www.ebi.ac.uk/efo/EFO_0007785 node UBERON_0002533 post-anal tail bud null http://purl.obolibrary.org/obo/UBERON_0002533 node Orphanet_1506 Thin ribs - tubular bones - dysmorphism null http://www.orpha.net/ORDO/Orphanet_1506 node NCBITaxon_98755 Festuca rubra subsp. littoralis null http://purl.obolibrary.org/obo/NCBITaxon_98755 node EFO_0007598 HAP-1 null http://www.ebi.ac.uk/efo/EFO_0007598 node Orphanet_263775 Partial duplication of the short arm of chromosome X null http://www.orpha.net/ORDO/Orphanet_263775 node MONDO_0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia null http://purl.obolibrary.org/obo/MONDO_0010308 node EFO_0006642 LXFL529 null http://www.ebi.ac.uk/efo/EFO_0006642 node Orphanet_295217 Radio-ulnar synostosis, unilateral null http://www.orpha.net/ORDO/Orphanet_295217 node Orphanet_370959 Congenital muscular dystrophy with cerebellar involvement null http://www.orpha.net/ORDO/Orphanet_370959 node MONDO_0001084 primary optic atrophy null http://purl.obolibrary.org/obo/MONDO_0001084 node EFO_0007686 surgical shock null http://www.ebi.ac.uk/efo/EFO_0007686 node EFO_0006863 obsolete_longissimus dorsi null http://www.ebi.ac.uk/efo/EFO_0006863 node MONDO_0018242 autoimmune hypoparathyroidism (disease) null http://purl.obolibrary.org/obo/MONDO_0018242 node CLO_0016608 GM17758 null http://purl.obolibrary.org/obo/CLO_0016608 node EFO_0004300 longevity Combine with age, or move? http://www.ebi.ac.uk/efo/EFO_0004300 node EFO_0010909 adrenomedullin measurement null http://www.ebi.ac.uk/efo/EFO_0010909 node Orphanet_83418 Proximal spinal muscular atrophy type 2 null http://www.orpha.net/ORDO/Orphanet_83418 node MONDO_0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency null http://purl.obolibrary.org/obo/MONDO_0014464 node EFO_1001419 Schistosomiasis japonica null http://www.ebi.ac.uk/efo/EFO_1001419 node EFO_0010193 spike in null http://www.ebi.ac.uk/efo/EFO_0010193 node EFO_0007492 splenic tuberculosis null http://www.ebi.ac.uk/efo/EFO_0007492 node EFO_0007287 glucosephosphate dehydrogenase deficiency null http://www.ebi.ac.uk/efo/EFO_0007287 node NCBITaxon_393133 Listeria monocytogenes 10403S null http://purl.obolibrary.org/obo/NCBITaxon_393133 node CL_0002419 mature T cell null http://purl.obolibrary.org/obo/CL_0002419 node Orphanet_3088 Revesz syndrome null http://www.orpha.net/ORDO/Orphanet_3088 node Orphanet_254892 Autosomal dominant progressive external ophthalmoplegia null http://www.orpha.net/ORDO/Orphanet_254892 node MONDO_0060532 congenital heart defects and skeletal malformations syndrome null http://purl.obolibrary.org/obo/MONDO_0060532 node Orphanet_98589 Palpebral malignant melanoma null http://www.orpha.net/ORDO/Orphanet_98589 node EFO_0006746 RMG-I null http://www.ebi.ac.uk/efo/EFO_0006746 node UO_0000041 nanomole null http://purl.obolibrary.org/obo/UO_0000041 node CLO_0012496 ND03432 null http://purl.obolibrary.org/obo/CLO_0012496 node EFO_0007103 iPS-17a null http://www.ebi.ac.uk/efo/EFO_0007103 node EFO_0009273 anti-Epstein Barr virus antibody measurement null http://www.ebi.ac.uk/efo/EFO_0009273 node MONDO_0015928 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease null http://purl.obolibrary.org/obo/MONDO_0015928 node EFO_0007375 molluscum contagiosum null http://www.ebi.ac.uk/efo/EFO_0007375 node CL_0001021 CD34-positive, CD38-positive common lymphoid progenitor These markers are associated with human common lymphoid progenitors. Originally described in the dendritic cell ontology (DC_CL:0000032)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001021 node Orphanet_3176 Spina bifida - hypospadias null http://www.orpha.net/ORDO/Orphanet_3176 node Orphanet_98677 Autosomal recessive syndromic optic atrophy null http://www.orpha.net/ORDO/Orphanet_98677 node EFO_0006834 septic shock null http://www.ebi.ac.uk/efo/EFO_0006834 node CHEBI_48999 4-hydroxyphenylacetate null http://purl.obolibrary.org/obo/CHEBI_48999 node NCBITaxon_264462 Bdellovibrio bacteriovorus HD100 null http://purl.obolibrary.org/obo/NCBITaxon_264462 node Orphanet_199642 Isolated congenital microcephaly null http://www.orpha.net/ORDO/Orphanet_199642 node EFO_0009977 sci-Hi-C null http://www.ebi.ac.uk/efo/EFO_0009977 node EFO_0001773 optimization design null http://www.ebi.ac.uk/efo/EFO_0001773 node CLO_0022371 AG11726 null http://purl.obolibrary.org/obo/CLO_0022371 node Orphanet_99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F null http://www.orpha.net/ORDO/Orphanet_99940 node MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) null http://purl.obolibrary.org/obo/MONDO_0024308 node Orphanet_59135 Laing early-onset distal myopathy null http://www.orpha.net/ORDO/Orphanet_59135 node EFO_1001870 late-onset Alzheimers disease null http://www.ebi.ac.uk/efo/EFO_1001870 node EFO_0009361 colorectal mucinous adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0009361 node Orphanet_98942 Coloboma of choroid and retina null http://www.orpha.net/ORDO/Orphanet_98942 node Orphanet_263004 Partial duplication of the long arm of chromosome 22 null http://www.orpha.net/ORDO/Orphanet_263004 node EFO_0006441 Hs 683 null http://www.ebi.ac.uk/efo/EFO_0006441 node Orphanet_98765 Spinocerebellar ataxia type 4 null http://www.orpha.net/ORDO/Orphanet_98765 node EFO_0002627 vulvar intraepithelial neoplasia null http://www.ebi.ac.uk/efo/EFO_0002627 node Orphanet_2710 Oculodentodigital dysplasia null http://www.orpha.net/ORDO/Orphanet_2710 node HP_0001397 Hepatic steatosis Although steatosis is the hallmark of the fatty liver disease, it is not a specific feature because it can be seen as part of other disease processes, such as drug injury, Wilson disease, or hepatitis C virus infection (especially genotype-3). Involvement of less than 5% of the hepatocytes by steatosis is considered clinically insignificant and within reference range. Based on the morphologic appearance and the size of the lipid droplets within the cytoplasm of the hepatocytes, steatosis is characterized as macrovesicular or microvesicular. Macrovesicular steatosis is characterized by large lipid droplets occupying the cytoplasm, displacing the nucleus to the periphery (large droplet macrovesicular steatosis) or multiple small lipid droplets of variable size occupying the cytoplasm with the nucleus maintaining its central location (small droplet macrovesicular steatosis). Microvesicular steatosis is characterized by innumerable tiny, relatively uniform lipid vacuoles that result in a bubbly appearance of the hepatocytes. http://purl.obolibrary.org/obo/HP_0001397 node MONDO_0002359 periosteal chondroma null http://purl.obolibrary.org/obo/MONDO_0002359 node NCBITaxon_487795 Cardamine sp. SIM-2007 null http://purl.obolibrary.org/obo/NCBITaxon_487795 node EFO_0003572 obsolete_mesenchyme derived from head neural crest null http://www.ebi.ac.uk/efo/EFO_0003572 node EFO_0003367 obsolete_oenocyte primordium null http://www.ebi.ac.uk/efo/EFO_0003367 node HP_0000307 Pointed chin The two rami of the mandible meet at an acute angle. http://purl.obolibrary.org/obo/HP_0000307 node UBERON_0002381 pectoralis major null http://purl.obolibrary.org/obo/UBERON_0002381 node Orphanet_280640 Occipital pachygyria and polymicrogyria null http://www.orpha.net/ORDO/Orphanet_280640 node EFO_0007319 hyperprolactinemia null http://www.ebi.ac.uk/efo/EFO_0007319 node MONDO_0015861 rare uterine adnexal tumor null http://purl.obolibrary.org/obo/MONDO_0015861 node Orphanet_436 Hypophosphatasia null http://www.orpha.net/ORDO/Orphanet_436 node EFO_0009467 response to anti-vascular endothelial growth factor drug null http://www.ebi.ac.uk/efo/EFO_0009467 node EFO_0003455 obsolete_epibranchial placode null http://www.ebi.ac.uk/efo/EFO_0003455 node HP_0001298 Encephalopathy This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. http://purl.obolibrary.org/obo/HP_0001298 node EFO_0008405 susceptibility to hepatitis B infection measurement null http://www.ebi.ac.uk/efo/EFO_0008405 node Orphanet_910 Xeroderma pigmentosum null http://www.orpha.net/ORDO/Orphanet_910 node Orphanet_240094 Progressive supranuclear palsy - pure akinesia with gait freezing null http://www.orpha.net/ORDO/Orphanet_240094 node Orphanet_91483 Rieger anomaly null http://www.orpha.net/ORDO/Orphanet_91483 node NCBITaxon_1772 Mycobacterium smegmatis null http://purl.obolibrary.org/obo/NCBITaxon_1772 node CHEBI_16716 benzene null http://purl.obolibrary.org/obo/CHEBI_16716 node UBERON_0001282 intralobular bile duct null http://purl.obolibrary.org/obo/UBERON_0001282 node Orphanet_524 Li-Fraumeni syndrome null http://www.orpha.net/ORDO/Orphanet_524 node HP_0008981 Calf muscle hypertrophy Distal lower limb hypertrophy http://purl.obolibrary.org/obo/HP_0008981 node Orphanet_276058 Genetic neurodegenerative disease with dementia null http://www.orpha.net/ORDO/Orphanet_276058 node EFO_0009555 male reproductive system disease null http://www.ebi.ac.uk/efo/EFO_0009555 node EFO_1001899 muscular channelopathy null http://www.ebi.ac.uk/efo/EFO_1001899 node Orphanet_337 Fibrodysplasia ossificans progressiva null http://www.orpha.net/ORDO/Orphanet_337 node HP_0002788 Recurrent upper respiratory tract infections null http://purl.obolibrary.org/obo/HP_0002788 node EFO_0003543 obsolete_statoacoustic (VIII) ganglion null http://www.ebi.ac.uk/efo/EFO_0003543 node NCBITaxon_9823 Sus scrofa null http://purl.obolibrary.org/obo/NCBITaxon_9823 node Orphanet_102010 Other syndrome with lissencephaly as a major feature Editor note: consider merging http://www.orpha.net/ORDO/Orphanet_102010 node HP_0030436 Fibrofolliculoma null http://purl.obolibrary.org/obo/HP_0030436 node EFO_0007014 3-hydroxypropylmercapturic acid measurement null http://www.ebi.ac.uk/efo/EFO_0007014 node PO_0007112 1 main shoot growth stage null http://purl.obolibrary.org/obo/PO_0007112 node NCBITaxon_8022 Oncorhynchus mykiss null http://purl.obolibrary.org/obo/NCBITaxon_8022 node Orphanet_61 Alpha-mannosidosis null http://www.orpha.net/ORDO/Orphanet_61 node NCBITaxon_502705 Fusarium acuminatum null http://purl.obolibrary.org/obo/NCBITaxon_502705 node UBERON_0001165 pyloric antrum null http://purl.obolibrary.org/obo/UBERON_0001165 node NCBITaxon_83333 Escherichia coli K-12 null http://purl.obolibrary.org/obo/NCBITaxon_83333 node Orphanet_183681 Functional neutrophil defect null http://www.orpha.net/ORDO/Orphanet_183681 node EFO_1001987 dropped head syndrome null http://www.ebi.ac.uk/efo/EFO_1001987 node MONDO_0016064 cleft palate null http://purl.obolibrary.org/obo/MONDO_0016064 node EFO_0002122 C4I null http://www.ebi.ac.uk/efo/EFO_0002122 node EFO_0000635 organism part null http://www.ebi.ac.uk/efo/EFO_0000635 node Orphanet_247573 Adult-onset citrullinemia type I null http://www.orpha.net/ORDO/Orphanet_247573 node Orphanet_109 Bannayan-Riley-Ruvalcaba syndrome null http://www.orpha.net/ORDO/Orphanet_109 node Orphanet_3322 Hoyeraal-Hreidarsson syndrome null http://www.orpha.net/ORDO/Orphanet_3322 node NCBITaxon_455632 Streptomyces griseus subsp. griseus NBRC 13350 null http://purl.obolibrary.org/obo/NCBITaxon_455632 node NCBITaxon_9031 Gallus gallus null http://purl.obolibrary.org/obo/NCBITaxon_9031 node MONDO_0010796 Parkinson disease, mitochondrial null http://purl.obolibrary.org/obo/MONDO_0010796 node HP_0012664 Reduced ejection fraction The normal range is at least 55 percent. http://purl.obolibrary.org/obo/HP_0012664 node EFO_0004028 N2 null http://www.ebi.ac.uk/efo/EFO_0004028 node MONDO_0021053 carotid body paraganglioma null http://purl.obolibrary.org/obo/MONDO_0021053 node EFO_0000242 obsolete_adult hindgut precursor null http://www.ebi.ac.uk/efo/EFO_0000242 node EFO_0002210 J82 null http://www.ebi.ac.uk/efo/EFO_0002210 node Orphanet_93607 Autosomal recessive proximal renal tubular acidosis null http://www.orpha.net/ORDO/Orphanet_93607 node EFO_0000723 obsolete_time to development of distant metastases synonym of distant metastasis free survival http://www.ebi.ac.uk/efo/EFO_0000723 node MONDO_0000727 scapuloperoneal myopathy null http://purl.obolibrary.org/obo/MONDO_0000727 node MONDO_0021451 benign neoplasm of brain null http://purl.obolibrary.org/obo/MONDO_0021451 node Orphanet_2792 Otofaciocervical syndrome null http://www.orpha.net/ORDO/Orphanet_2792 node EFO_0004249 meningococcal infection null http://www.ebi.ac.uk/efo/EFO_0004249 node EFO_0007095 iPS DF 19.7 null http://www.ebi.ac.uk/efo/EFO_0007095 node CLO_0016489 GM17798 null http://purl.obolibrary.org/obo/CLO_0016489 node MONDO_0021135 rare or common null http://purl.obolibrary.org/obo/MONDO_0021135 node Orphanet_2025 Gingival fibromatosis - facial dysmorphism null http://www.orpha.net/ORDO/Orphanet_2025 node EFO_0000330 childhood acute myeloid leukemia null http://www.ebi.ac.uk/efo/EFO_0000330 node EFO_0010751 nucleotide sequence offset null http://www.ebi.ac.uk/efo/EFO_0010751 node EFO_1001011 lateral medullary syndrome null http://www.ebi.ac.uk/efo/EFO_1001011 node Orphanet_268184 Thiamine-responsive maple syrup urine disease null http://www.orpha.net/ORDO/Orphanet_268184 node EFO_0005441 DU 145 null http://www.ebi.ac.uk/efo/EFO_0005441 node EFO_0003060 non-small cell lung carcinoma null http://www.ebi.ac.uk/efo/EFO_0003060 node Orphanet_262878 Partial duplication of the long arm of chromosome 6 null http://www.orpha.net/ORDO/Orphanet_262878 node Orphanet_2880 Phosphoenolpyruvate carboxykinase deficiency null http://www.orpha.net/ORDO/Orphanet_2880 node NCBITaxon_60711 Chlorocebus sabaeus null http://purl.obolibrary.org/obo/NCBITaxon_60711 node MONDO_0000169 microphthalmia, isolated, with cataract null http://purl.obolibrary.org/obo/MONDO_0000169 node Orphanet_309115 Disorder of mitochondrial fatty acid oxidation null http://www.orpha.net/ORDO/Orphanet_309115 node EFO_0007183 bronchiolitis obliterans Editor note: TODO check this http://www.ebi.ac.uk/efo/EFO_0007183 node Orphanet_101077 X-linked Charcot-Marie-Tooth disease type 3 null http://www.orpha.net/ORDO/Orphanet_101077 node HP_0002017 Nausea and vomiting null http://purl.obolibrary.org/obo/HP_0002017 node MONDO_0016322 neuroendocrine cell hyperplasia of infancy null http://purl.obolibrary.org/obo/MONDO_0016322 node Orphanet_3253 Zlotogora-Ogur syndrome null http://www.orpha.net/ORDO/Orphanet_3253 node Orphanet_209893 Congenital isolated thyroxine-binding globulin deficiency null http://www.orpha.net/ORDO/Orphanet_209893 node EFO_0008729 END-seq null http://www.ebi.ac.uk/efo/EFO_0008729 node EFO_0005324 post-operative sensory disturbance null http://www.ebi.ac.uk/efo/EFO_0005324 node EFO_0001394 obsolete_pons null http://www.ebi.ac.uk/efo/EFO_0001394 node EFO_0001189 HMEC S1 null http://www.ebi.ac.uk/efo/EFO_0001189 node EFO_0007271 fibroepithelial neoplasm null http://www.ebi.ac.uk/efo/EFO_0007271 node MONDO_0015792 transient congenital hypothyroidism null http://purl.obolibrary.org/obo/MONDO_0015792 node Orphanet_2201 Palmoplantar keratoderma-spastic paralysis syndrome null http://www.orpha.net/ORDO/Orphanet_2201 node EFO_1000867 chromophobe adenoma null http://www.ebi.ac.uk/efo/EFO_1000867 node EFO_0007289 gnathomiasis null http://www.ebi.ac.uk/efo/EFO_0007289 node EFO_0008336 disease progression measurement null http://www.ebi.ac.uk/efo/EFO_0008336 node Orphanet_3341 Torticollis - keloids - cryptorchidism - renal dysplasia null http://www.orpha.net/ORDO/Orphanet_3341 node EFO_0008817 MitoRCA-seq null http://www.ebi.ac.uk/efo/EFO_0008817 node Orphanet_209981 IRIDA syndrome null http://www.orpha.net/ORDO/Orphanet_209981 node MONDO_0002038 head and neck carcinoma null http://purl.obolibrary.org/obo/MONDO_0002038 node EFO_0001277 blastula 30%-epiboly null http://www.ebi.ac.uk/efo/EFO_0001277 node Orphanet_251279 Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen null http://www.orpha.net/ORDO/Orphanet_251279 node FBbt_00005554 ventral nerve cord primordium null http://purl.obolibrary.org/obo/FBbt_00005554 node MONDO_0024476 epithelial neoplasm of rectum null http://purl.obolibrary.org/obo/MONDO_0024476 node Orphanet_319671 Microcephalic primordial dwarfism, Alazami type null http://www.orpha.net/ORDO/Orphanet_319671 node EFO_1000955 Haemophilus influenzae meningitis null http://www.ebi.ac.uk/efo/EFO_1000955 node EFO_0007377 Morbillivirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007377 node EFO_0008424 IgG digalactosylation measurement null http://www.ebi.ac.uk/efo/EFO_0008424 node Orphanet_494 Keratoderma hereditarium mutilans null http://www.orpha.net/ORDO/Orphanet_494 node EFO_1000768 spongiotic dermatitis null http://www.ebi.ac.uk/efo/EFO_1000768 node UBERON_0007688 anlage null http://purl.obolibrary.org/obo/UBERON_0007688 node HP_0001657 Prolonged QT interval The QT interval represents electrical depolarization and repolarization of the left and right ventricles. http://purl.obolibrary.org/obo/HP_0001657 node EFO_0001365 age-related macular degeneration null http://www.ebi.ac.uk/efo/EFO_0001365 node NCBITaxon_316275 Aliivibrio salmonicida LFI1238 null http://purl.obolibrary.org/obo/NCBITaxon_316275 node EFO_0002690 systemic lupus erythematosus null http://www.ebi.ac.uk/efo/EFO_0002690 node EFO_1001809 Marchiafava-Bignami Disease null http://www.ebi.ac.uk/efo/EFO_1001809 node EFO_0005758 cycloplegia null http://www.ebi.ac.uk/efo/EFO_0005758 node EFO_1000375 Metaplastic Meningioma null http://www.ebi.ac.uk/efo/EFO_1000375 node CLO_0013179 GM17267 null http://purl.obolibrary.org/obo/CLO_0013179 node Orphanet_400003 Rare genetic disorder with obstructive azoospermia Editor note: unclear how this is distinguished from parent; sib is Congenital bilateral absence of vas deferens http://www.orpha.net/ORDO/Orphanet_400003 node Orphanet_1765 Dyschondrosteosis - nephritis null http://www.orpha.net/ORDO/Orphanet_1765 node Orphanet_98626 Stromal corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98626 node MONDO_0002612 frontal lobe epilepsy null http://purl.obolibrary.org/obo/MONDO_0002612 node Orphanet_284385 Familial intrahepatic cholestasis null http://www.orpha.net/ORDO/Orphanet_284385 node NCBITaxon_81824 Monosiga brevicollis null http://purl.obolibrary.org/obo/NCBITaxon_81824 node Orphanet_308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form null http://www.orpha.net/ORDO/Orphanet_308698 node EFO_0004799 cholelithiasis null http://www.ebi.ac.uk/efo/EFO_0004799 node EFO_0005846 cryoglobulinemia null http://www.ebi.ac.uk/efo/EFO_0005846 node EFO_0010466 carboxamide measurement null http://www.ebi.ac.uk/efo/EFO_0010466 node CHEBI_4784 enalapril null http://purl.obolibrary.org/obo/CHEBI_4784 node Orphanet_96181 Maternal uniparental disomy of chromosome 6 null http://www.orpha.net/ORDO/Orphanet_96181 node Orphanet_261836 Partial deletion of chromosome 18 null http://www.orpha.net/ORDO/Orphanet_261836 node MONDO_0015319 rare disease with Pierre Robin syndrome null http://purl.obolibrary.org/obo/MONDO_0015319 node EFO_0009123 urine collection null http://www.ebi.ac.uk/efo/EFO_0009123 node Orphanet_166096 Von Willebrand disease type 3 null http://www.orpha.net/ORDO/Orphanet_166096 node CHEBI_2038 5-azacytidine null http://purl.obolibrary.org/obo/CHEBI_2038 node EFO_0009052 Pleuropulmonary blastoma null http://www.ebi.ac.uk/efo/EFO_0009052 node EFO_0000693 schwannoma null http://www.ebi.ac.uk/efo/EFO_0000693 node NCBITaxon_391295 Streptococcus suis 05ZYH33 null http://purl.obolibrary.org/obo/NCBITaxon_391295 node Orphanet_300525 Pseudohypoaldosteronism type 2D null http://www.orpha.net/ORDO/Orphanet_300525 node Orphanet_353327 Congenital myasthenic syndromes with glycosylation defect null http://www.orpha.net/ORDO/Orphanet_353327 node EFO_0010554 retinal vasculature measurement null http://www.ebi.ac.uk/efo/EFO_0010554 node EFO_0005934 disease cell type null http://www.ebi.ac.uk/efo/EFO_0005934 node NCBITaxon_216895 Vibrio vulnificus CMCP6 null http://purl.obolibrary.org/obo/NCBITaxon_216895 node Orphanet_138041 Pierre Robin syndrome associated with collagen disease null http://www.orpha.net/ORDO/Orphanet_138041 node EFO_1001197 subependymal glioma null http://www.ebi.ac.uk/efo/EFO_1001197 node HP_0002086 Abnormality of the respiratory system null http://purl.obolibrary.org/obo/HP_0002086 node CL_0000955 pre-B-II cell pre-B-II cell are also reportedly CD19-positive, CD22-positive, CD38-positive, CD45-positive, and CD48-positive. http://purl.obolibrary.org/obo/CL_0000955 node MONDO_0016511 infectious embryofetopathy null http://purl.obolibrary.org/obo/MONDO_0016511 node Orphanet_262851 Partial duplication of the long arm of chromosome 3 null http://www.orpha.net/ORDO/Orphanet_262851 node EFO_0004105 obsolete_seq library selection null http://www.ebi.ac.uk/efo/EFO_0004105 node EFO_0000781 Pectobacterium carotovorum infection null http://www.ebi.ac.uk/efo/EFO_0000781 node Orphanet_295148 Polydactyly of a triphalangeal thumb, unilateral null http://www.orpha.net/ORDO/Orphanet_295148 node EFO_1001285 Cardiac Tamponade null http://www.ebi.ac.uk/efo/EFO_1001285 node CL_0000562 nucleate erythrocyte null http://purl.obolibrary.org/obo/CL_0000562 node EFO_0004807 short sleep null http://www.ebi.ac.uk/efo/EFO_0004807 node EFO_0003146 symptomatic heart failure null http://www.ebi.ac.uk/efo/EFO_0003146 node EFO_1001091 Pasteurella hemorrhagic septicemia null http://www.ebi.ac.uk/efo/EFO_1001091 node EFO_0006959 gene methylation measurement null http://www.ebi.ac.uk/efo/EFO_0006959 node CHEBI_27266 valine null http://purl.obolibrary.org/obo/CHEBI_27266 node EFO_0006345 response to phenytoin null http://www.ebi.ac.uk/efo/EFO_0006345 node EFO_0000021 CS57581 null http://www.ebi.ac.uk/efo/EFO_0000021 node CHEBI_53003 naphthalene-1,5-diamine null http://purl.obolibrary.org/obo/CHEBI_53003 node HP_0040233 Factor XIII subunit A deficiency Measurement of subunit A or B can be performed by Elisa kits. Adding the more granular term would facilitate mutation analysis as both subunits are encoded by different genes. This is not always performed in the diagnostic workup so 'Reduced factor XIII activity' would sufice. This term has been requested and created by members of the BRIDGE consortium http://purl.obolibrary.org/obo/HP_0040233 node EFO_0010289 caudal anterior cingulate cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010289 node EFO_0006639 LoVo null http://www.ebi.ac.uk/efo/EFO_0006639 node MONDO_0001926 ureteral disease null http://purl.obolibrary.org/obo/MONDO_0001926 node Orphanet_98885 Bleeding diathesis due to glycoprotein VI deficiency null http://www.orpha.net/ORDO/Orphanet_98885 node Orphanet_683 Progressive supranuclear palsy null http://www.orpha.net/ORDO/Orphanet_683 node EFO_0007964 gestational serum measurement null http://www.ebi.ac.uk/efo/EFO_0007964 node EFO_0005043 cardiac troponin T measurement null http://www.ebi.ac.uk/efo/EFO_0005043 node EFO_0007787 plasma betaine measurement null http://www.ebi.ac.uk/efo/EFO_0007787 node EFO_0004502 adiponectin measurement null http://www.ebi.ac.uk/efo/EFO_0004502 node EFO_0001799 ethnic group null http://www.ebi.ac.uk/efo/EFO_0001799 node Orphanet_79246 Pyruvate dehydrogenase phosphatase deficiency null http://www.orpha.net/ORDO/Orphanet_79246 node MPATH_212 inflammation (MPATH) null http://purl.obolibrary.org/obo/MPATH_212 node CHEBI_74348 1-[(4Z,7Z,10Z,13Z,16Z)-docosapentaenoyl]-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_74348 node EFO_0004084 DR1564 null http://www.ebi.ac.uk/efo/EFO_0004084 node Orphanet_157962 Oculoauricular syndrome, Schorderet type null http://www.orpha.net/ORDO/Orphanet_157962 node Orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection null http://www.orpha.net/ORDO/Orphanet_91387 node HP_0011110 Tonsillitis null http://purl.obolibrary.org/obo/HP_0011110 node EFO_0007875 excessive daytime sleepiness measurement null http://www.ebi.ac.uk/efo/EFO_0007875 node MONDO_0021400 polyp of colon null http://purl.obolibrary.org/obo/MONDO_0021400 node Orphanet_2741 Ophthalmomandibulomelic dysplasia null http://www.orpha.net/ORDO/Orphanet_2741 node EFO_0008027 annexin A2 measurement null http://www.ebi.ac.uk/efo/EFO_0008027 node CLO_0015112 GM17120 null http://purl.obolibrary.org/obo/CLO_0015112 node EFO_0000308 bronchoalveolar adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0000308 node Orphanet_2554 Ear-patella-short stature syndrome null http://www.orpha.net/ORDO/Orphanet_2554 node MONDO_0000621 immune system cancer null http://purl.obolibrary.org/obo/MONDO_0000621 node NCBITaxon_446 Legionella pneumophila null http://purl.obolibrary.org/obo/NCBITaxon_446 node Orphanet_2962 De Barsy syndrome null http://www.orpha.net/ORDO/Orphanet_2962 node CL_0001018 immature CD8_alpha-low Langerhans cell These markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000030)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001018 node MONDO_0015887 rare diabetes mellitus type 2 null http://purl.obolibrary.org/obo/MONDO_0015887 node EFO_1000165 Cervical Glandular Intraepithelial Neoplasia null http://www.ebi.ac.uk/efo/EFO_1000165 node EFO_0003668 obsolete_ciliary marginal zone null http://www.ebi.ac.uk/efo/EFO_0003668 node Orphanet_268770 Upper thoracic spina bifida cystica null http://www.orpha.net/ORDO/Orphanet_268770 node EFO_0008115 ectonucleoside triphosphate diphosphohydrolase 5 measurement null http://www.ebi.ac.uk/efo/EFO_0008115 node MONDO_0000118 reticulate pigment disorder null http://purl.obolibrary.org/obo/MONDO_0000118 node EFO_1000459 Parotid Gland Adenoid Cystic Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000459 node Orphanet_941 D-glyceric aciduria null http://www.orpha.net/ORDO/Orphanet_941 node HP_0001348 Brisk reflexes null http://purl.obolibrary.org/obo/HP_0001348 node Orphanet_93389 Brachydactyly type A5 null http://www.orpha.net/ORDO/Orphanet_93389 node EFO_0009921 10x 5' v3 sequencing null http://www.ebi.ac.uk/efo/EFO_0009921 node EFO_1000430 Ovarian Sex Cord Tumor with Annular Tubules null http://www.ebi.ac.uk/efo/EFO_1000430 node EFO_0009768 glutamine measurement null http://www.ebi.ac.uk/efo/EFO_0009768 node UBERON_0001954 Ammon's horn null http://purl.obolibrary.org/obo/UBERON_0001954 node HP_0000980 Pallor null http://purl.obolibrary.org/obo/HP_0000980 node EFO_0001071 lung carcinoma null http://www.ebi.ac.uk/efo/EFO_0001071 node HP_0000775 Abnormality of the diaphragm null http://purl.obolibrary.org/obo/HP_0000775 node NCBITaxon_40559 Botrytis cinerea null http://purl.obolibrary.org/obo/NCBITaxon_40559 node EFO_0004860 common carotid intimal medial thickness null http://www.ebi.ac.uk/efo/EFO_0004860 node EFO_1000253 Fallopian Tube Serous Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000253 node NCBITaxon_8014 Osmerus mordax null http://purl.obolibrary.org/obo/NCBITaxon_8014 node Orphanet_368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency null http://www.orpha.net/ORDO/Orphanet_368 node CL_0002431 CD4-positive, CD8-intermediate double-positive thymocyte null http://purl.obolibrary.org/obo/CL_0002431 node EFO_0003756 autism spectrum disorder null http://www.ebi.ac.uk/efo/EFO_0003756 node HP_0002540 Inability to walk null http://purl.obolibrary.org/obo/HP_0002540 node EFO_0004673 obsolete_response to lapatinib null http://www.ebi.ac.uk/efo/EFO_0004673 node GO_1900134 negative regulation of renin secretion into blood stream null http://purl.obolibrary.org/obo/GO_1900134 node UBERON_2005017 primordial midbrain channel null http://purl.obolibrary.org/obo/UBERON_2005017 node EFO_1000066 ACTH-Producing Pituitary Gland Adenoma null http://www.ebi.ac.uk/efo/EFO_1000066 node FBbt_00005556 apoptotic amnioserosa null http://purl.obolibrary.org/obo/FBbt_00005556 node EFO_1000547 Splenic Diffuse Large B-Cell Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000547 node EFO_0003569 obsolete_floor plate rhombomere 5 null http://www.ebi.ac.uk/efo/EFO_0003569 node MONDO_0024337 urothelial neoplasm null http://purl.obolibrary.org/obo/MONDO_0024337 node MONDO_0054695 myopathy, centronuclear, 6, with fiber-type disproportion null http://purl.obolibrary.org/obo/MONDO_0054695 node EFO_1001872 agoraphobia null http://www.ebi.ac.uk/efo/EFO_1001872 node HP_0001249 Intellectual disability This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). http://purl.obolibrary.org/obo/HP_0001249 node HP_0000863 Central diabetes insipidus null http://purl.obolibrary.org/obo/HP_0000863 node Orphanet_1930 Herpetic encephalitis null http://www.orpha.net/ORDO/Orphanet_1930 node Orphanet_294969 Amelia of lower limb null http://www.orpha.net/ORDO/Orphanet_294969 node EFO_0009669 flatulence null http://www.ebi.ac.uk/efo/EFO_0009669 node EFO_0002816 C3H10T1/2 null http://www.ebi.ac.uk/efo/EFO_0002816 node EFO_0004761 uric acid measurement null http://www.ebi.ac.uk/efo/EFO_0004761 node CHEBI_64519 phosphatidylcholine 38:6 null http://purl.obolibrary.org/obo/CHEBI_64519 node EFO_0009506 heart injury null http://www.ebi.ac.uk/efo/EFO_0009506 node HP_0003121 Limb joint contracture null http://purl.obolibrary.org/obo/HP_0003121 node EFO_0002629 viral cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_0002629 node UBERON_0001058 mushroom body null http://purl.obolibrary.org/obo/UBERON_0001058 node Orphanet_3032 NPHP3-related Meckel-like syndrome null http://www.orpha.net/ORDO/Orphanet_3032 node Orphanet_295095 Congenital absence of both forearm and hand, bilateral null http://www.orpha.net/ORDO/Orphanet_295095 node EFO_1001960 hypopharyngeal squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_1001960 node MONDO_0003342 benign perivascular tumor null http://purl.obolibrary.org/obo/MONDO_0003342 node UO_0000109 pressure unit null http://purl.obolibrary.org/obo/UO_0000109 node EFO_0002600 obsolete_distal portion of right coronary artery null http://www.ebi.ac.uk/efo/EFO_0002600 node HP_0000951 Abnormality of the skin null http://purl.obolibrary.org/obo/HP_0000951 node HP_0012877 Retrograde ejaculation null http://purl.obolibrary.org/obo/HP_0012877 node EFO_0002423 osteoma null http://www.ebi.ac.uk/efo/EFO_0002423 node CLO_0013840 GM17200 null http://purl.obolibrary.org/obo/CLO_0013840 node EFO_1000717 inverted follicular keratosis null http://www.ebi.ac.uk/efo/EFO_1000717 node EFO_0005593 tetanus We treat tetanus and infection due to Clostridium tetani as synonymous http://www.ebi.ac.uk/efo/EFO_0005593 node HP_0000103 Polyuria An excessive volume of urination for an adult is more than 2.5 liters of urine per day. http://purl.obolibrary.org/obo/HP_0000103 node MONDO_0032610 mitochondrial complex 1 deficiency, nuclear type 5 null http://purl.obolibrary.org/obo/MONDO_0032610 node EFO_0002717 SH-SY5Y null http://www.ebi.ac.uk/efo/EFO_0002717 node CHEBI_48354 polar solvent role null http://purl.obolibrary.org/obo/CHEBI_48354 node OBI_0001166 validation by real time PCR design null http://purl.obolibrary.org/obo/OBI_0001166 node NCBITaxon_5861 Plasmodium yoelii null http://purl.obolibrary.org/obo/NCBITaxon_5861 node UBERON_0002471 zeugopod There exists some controversy about which podial segments are present in some fishes, e.g. if the autopod is not newly evolved in tetrapods, there is a question as to which segments are actually present in basal vertebrate taxa.[PHENOSCAPE:curators] http://purl.obolibrary.org/obo/UBERON_0002471 node EFO_0003052 obsolete_fibula null http://www.ebi.ac.uk/efo/EFO_0003052 node EFO_0002103 A375 null http://www.ebi.ac.uk/efo/EFO_0002103 node EFO_0009815 CASCOT confidence score measurement null http://www.ebi.ac.uk/efo/EFO_0009815 node CLO_0013818 GM17197 null http://purl.obolibrary.org/obo/CLO_0013818 node NCBITaxon_90961 Australian bat lyssavirus null http://purl.obolibrary.org/obo/NCBITaxon_90961 node EFO_0002511 simple cystadenoma null http://www.ebi.ac.uk/efo/EFO_0002511 node EFO_0009125 bronchial brush biopsy null http://www.ebi.ac.uk/efo/EFO_0009125 node CLO_0031510 GM14502 null http://purl.obolibrary.org/obo/CLO_0031510 node Orphanet_183678 Hermansky-Pudlak syndrome with neutropenia null http://www.orpha.net/ORDO/Orphanet_183678 node EFO_0002324 Raji null http://www.ebi.ac.uk/efo/EFO_0002324 node Orphanet_261222 Distal 16p11.2 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261222 node EFO_0000174 Ewing sarcoma null http://www.ebi.ac.uk/efo/EFO_0000174 node GO_0055069 zinc ion homeostasis null http://purl.obolibrary.org/obo/GO_0055069 node GO_0019438 aromatic compound biosynthetic process null http://purl.obolibrary.org/obo/GO_0019438 node MONDO_0005232 large cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0005232 node Orphanet_3319 Congenital amegakaryocytic thrombocytopenia null http://www.orpha.net/ORDO/Orphanet_3319 node Orphanet_171714 Amish infantile epilepsy syndrome null http://www.orpha.net/ORDO/Orphanet_171714 node CHEBI_16330 17beta-hydroxy-5alpha-androstan-3-one null http://purl.obolibrary.org/obo/CHEBI_16330 node EFO_0000426 obsolete_dorsal trunk specific anlage null http://www.ebi.ac.uk/efo/EFO_0000426 node EFO_1001107 pilar sheath acanthoma null http://www.ebi.ac.uk/efo/EFO_1001107 node EFO_0000239 adrenal gland pheochromocytoma null http://www.ebi.ac.uk/efo/EFO_0000239 node EFO_0005537 triple-negative breast cancer null http://www.ebi.ac.uk/efo/EFO_0005537 node UBERON_2001157 posterior lateral line primordium null http://purl.obolibrary.org/obo/UBERON_2001157 node Orphanet_1063 Tufted angioma null http://www.orpha.net/ORDO/Orphanet_1063 node MONDO_0044765 steroid-resistant nephrotic syndrome null http://purl.obolibrary.org/obo/MONDO_0044765 node Orphanet_250994 1q21.1 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_250994 node EFO_0003902 spinal fracture null http://www.ebi.ac.uk/efo/EFO_0003902 node EFO_0000327 obsolete_cerebellum null http://www.ebi.ac.uk/efo/EFO_0000327 node EFO_1001008 kuru null http://www.ebi.ac.uk/efo/EFO_1001008 node CL_0000646 basal cell null http://purl.obolibrary.org/obo/CL_0000646 node MONDO_0000916 intestinal infectious disease null http://purl.obolibrary.org/obo/MONDO_0000916 node EFO_0005438 array control label null http://www.ebi.ac.uk/efo/EFO_0005438 node PO_0009030 carpel The female reproductive part of a flower, consisting of stigma, style, and ovary. http://purl.obolibrary.org/obo/PO_0009030 node EFO_0002682 third instar larva stage null http://www.ebi.ac.uk/efo/EFO_0002682 node EFO_1000300 Ileal Neuroendocrine Tumor G1 null http://www.ebi.ac.uk/efo/EFO_1000300 node EFO_1002023 plantar wart null http://www.ebi.ac.uk/efo/EFO_1002023 node EFO_0005045 visceral Leishmaniasis Editor note: split out susceptibility/PS http://www.ebi.ac.uk/efo/EFO_0005045 node Orphanet_90625 X-linked non-syndromic sensorineural deafness type DFN null http://www.orpha.net/ORDO/Orphanet_90625 node NCBITaxon_382539 Strelkovimermis null http://purl.obolibrary.org/obo/NCBITaxon_382539 node NCBITaxon_59312 Sarcophaga crassipalpis null http://purl.obolibrary.org/obo/NCBITaxon_59312 node Orphanet_309144 Gangliosidosis null http://www.orpha.net/ORDO/Orphanet_309144 node EFO_0008780 inDrop null http://www.ebi.ac.uk/efo/EFO_0008780 node MONDO_0023206 functional pancreatic neuroendocrine tumor null http://purl.obolibrary.org/obo/MONDO_0023206 node EFO_0008593 low density lipoprotein particle size measurement null http://www.ebi.ac.uk/efo/EFO_0008593 node Orphanet_280224 Pelizaeus-Merzbacher disease, transitional form null http://www.orpha.net/ORDO/Orphanet_280224 node Orphanet_324294 T-cell immunodeficiency with epidermodysplasia verruciformis null http://www.orpha.net/ORDO/Orphanet_324294 node EFO_0007515 toxascariasis null http://www.ebi.ac.uk/efo/EFO_0007515 node Orphanet_2496 Mesomelia-synostoses syndrome null http://www.orpha.net/ORDO/Orphanet_2496 node UBERON_0008930 somatosensory cortex null http://purl.obolibrary.org/obo/UBERON_0008930 node Orphanet_650 LCAT deficiency null http://www.orpha.net/ORDO/Orphanet_650 node Orphanet_309848 Disorder of magnesium transport null http://www.orpha.net/ORDO/Orphanet_309848 node EFO_0008277 Secreted frizzled-related protein 3 measurement null http://www.ebi.ac.uk/efo/EFO_0008277 node EFO_0007328 influenza null http://www.ebi.ac.uk/efo/EFO_0007328 node Orphanet_2333 Kenny-Caffey syndrome null http://www.orpha.net/ORDO/Orphanet_2333 node Orphanet_294981 Congenital absence of both lower leg and foot null http://www.orpha.net/ORDO/Orphanet_294981 node EFO_0007913 extraversion measurement null http://www.ebi.ac.uk/efo/EFO_0007913 node NCBITaxon_43988 Cyanothece null http://purl.obolibrary.org/obo/NCBITaxon_43988 node EFO_0002991 ILSXISS66/TejJ null http://www.ebi.ac.uk/efo/EFO_0002991 node EFO_1000811 anterior uveitis null http://www.ebi.ac.uk/efo/EFO_1000811 node EFO_0003833 brain neoplasm null http://www.ebi.ac.uk/efo/EFO_0003833 node EFO_0007736 NOD/ShiLtJ null http://www.ebi.ac.uk/efo/EFO_0007736 node EFO_0006809 docosapentaenoic acid measurement null http://www.ebi.ac.uk/efo/EFO_0006809 node EFO_0008681 CHART null http://www.ebi.ac.uk/efo/EFO_0008681 node MONDO_0045002 vertebral disease null http://purl.obolibrary.org/obo/MONDO_0045002 node Orphanet_263726 Partial deletion of chromosome X null http://www.orpha.net/ORDO/Orphanet_263726 node CL_0002122 B220-positive CD38-positive IgG-negative class switched memory B cell null http://purl.obolibrary.org/obo/CL_0002122 node Orphanet_238569 Autosomal recessive early-onset inflammatory bowel disease null http://www.orpha.net/ORDO/Orphanet_238569 node EFO_0008365 heart amyloid deposition measurement null http://www.ebi.ac.uk/efo/EFO_0008365 node EFO_0002969 obsolete_endocrine system null http://www.ebi.ac.uk/efo/EFO_0002969 node EFO_0007416 pancreatic endocrine carcinoma null http://www.ebi.ac.uk/efo/EFO_0007416 node Orphanet_99844 Leukocyte adhesion deficiency type III null http://www.orpha.net/ORDO/Orphanet_99844 node GO_0071944 cell periphery null http://purl.obolibrary.org/obo/GO_0071944 node EFO_0002874 WM793-P1N1 null http://www.ebi.ac.uk/efo/EFO_0002874 node NCBITaxon_1764 Mycobacterium avium null http://purl.obolibrary.org/obo/NCBITaxon_1764 node EFO_0003921 pouchitis null http://www.ebi.ac.uk/efo/EFO_0003921 node EFO_0007824 hair shape measurement null http://www.ebi.ac.uk/efo/EFO_0007824 node EFO_0007637 traditional Chinese medicine type null http://www.ebi.ac.uk/efo/EFO_0007637 node HP_0001601 Laryngomalacia Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor. http://purl.obolibrary.org/obo/HP_0001601 node MONDO_0024502 gallbladder neuroendocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0024502 node Orphanet_182040 Medullar aplasia null http://www.orpha.net/ORDO/Orphanet_182040 node EFO_0001250 TERV-AntiSenseB56 null http://www.ebi.ac.uk/efo/EFO_0001250 node EFO_0002576 intestinal endoderm null http://www.ebi.ac.uk/efo/EFO_0002576 node Orphanet_1949 Benign familial neonatal seizures null http://www.orpha.net/ORDO/Orphanet_1949 node EFO_0008453 calf circumference measurement null http://www.ebi.ac.uk/efo/EFO_0008453 node EFO_0001073 obesity Obesity is a complex disease that may involve multiple environmental and genetic causes. See the subclass monogenic disease for genetic subtypes http://www.ebi.ac.uk/efo/EFO_0001073 node EFO_0004299 life expectancy null http://www.ebi.ac.uk/efo/EFO_0004299 node Orphanet_235936 Familial hyperaldosteronism null http://www.orpha.net/ORDO/Orphanet_235936 node Orphanet_140 Campomelic dysplasia Editor note: consider adding grouping class for related disorders http://www.orpha.net/ORDO/Orphanet_140 node GO_0043231 intracellular membrane-bounded organelle null http://purl.obolibrary.org/obo/GO_0043231 node EFO_0000994 plant fluid null http://www.ebi.ac.uk/efo/EFO_0000994 node NCBITaxon_449216 Rickettsia prowazekii Rp22 null http://purl.obolibrary.org/obo/NCBITaxon_449216 node Orphanet_621 Hereditary methemoglobinemia null http://www.orpha.net/ORDO/Orphanet_621 node MONDO_0016260 uterine corpus rhabdomyosarcoma null http://purl.obolibrary.org/obo/MONDO_0016260 node HP_0000161 Median cleft lip null http://purl.obolibrary.org/obo/HP_0000161 node EFO_0000831 obsolete_cranium null http://www.ebi.ac.uk/efo/EFO_0000831 node Orphanet_206599 Isolated asymptomatic elevation of creatine phosphokinase null http://www.orpha.net/ORDO/Orphanet_206599 node EFO_1001498 disseminated atypical mycobacterial infection null http://www.ebi.ac.uk/efo/EFO_1001498 node UBERON_0000115 lung epithelium null http://purl.obolibrary.org/obo/UBERON_0000115 node Orphanet_295179 Postaxial polydactyly of toes, unilateral null http://www.orpha.net/ORDO/Orphanet_295179 node EFO_1000408 Ossifying Fibromyxoid Tumor null http://www.ebi.ac.uk/efo/EFO_1000408 node MONDO_0018299 sphingolipidosis with epilepsy null http://purl.obolibrary.org/obo/MONDO_0018299 node NCBITaxon_226302 Lachancea kluyveri NRRL Y-12651 null http://purl.obolibrary.org/obo/NCBITaxon_226302 node CHEBI_40279 allopurinol null http://purl.obolibrary.org/obo/CHEBI_40279 node CHEBI_7719 ochratoxin A null http://purl.obolibrary.org/obo/CHEBI_7719 node MONDO_0025511 inherited neuroendocrine tumor null http://purl.obolibrary.org/obo/MONDO_0025511 node EFO_0001161 GM12874 null http://www.ebi.ac.uk/efo/EFO_0001161 node EFO_0003359 obsolete_ventral sensory complex primordium null http://www.ebi.ac.uk/efo/EFO_0003359 node MONDO_0014809 DDX41-related hematologic malignancy predisposition syndrome null http://purl.obolibrary.org/obo/MONDO_0014809 node Orphanet_1340 Cardiofaciocutaneous syndrome null http://www.orpha.net/ORDO/Orphanet_1340 node EFO_0004622 sphingolipid measurement null http://www.ebi.ac.uk/efo/EFO_0004622 node EFO_1000015 aldosterone-producing adenoma PMID:20482833 http://www.ebi.ac.uk/efo/EFO_1000015 node EFO_0000732 vehicle role null http://www.ebi.ac.uk/efo/EFO_0000732 node MONDO_0018387 rare male infertility due to adrenal disorder null http://purl.obolibrary.org/obo/MONDO_0018387 node EFO_0004445 cohort null http://www.ebi.ac.uk/efo/EFO_0004445 node EFO_0003518 obsolete_hair cell posterior macula null http://www.ebi.ac.uk/efo/EFO_0003518 node MONDO_0015185 intestinal polyposis syndrome null http://purl.obolibrary.org/obo/MONDO_0015185 node CLO_0031225 GM14414 null http://purl.obolibrary.org/obo/CLO_0031225 node EFO_0002170 Detroit562 null http://www.ebi.ac.uk/efo/EFO_0002170 node MONDO_0016508 rare non surgically correctable form of primary aldosteronism null http://purl.obolibrary.org/obo/MONDO_0016508 node Orphanet_238722 Familial congenital mirror movements null http://www.orpha.net/ORDO/Orphanet_238722 node Orphanet_228360 CLN5 disease null http://www.orpha.net/ORDO/Orphanet_228360 node EFO_1001821 osteoradionecrosis null http://www.ebi.ac.uk/efo/EFO_1001821 node EFO_0010041 Nascent-Seq null http://www.ebi.ac.uk/efo/EFO_0010041 node EFO_0005595 toxic encephalopathy null http://www.ebi.ac.uk/efo/EFO_0005595 node MONDO_0020125 acquired neuromuscular junction disease null http://purl.obolibrary.org/obo/MONDO_0020125 node EFO_0007995 basophil percentage of granulocytes null http://www.ebi.ac.uk/efo/EFO_0007995 node MONDO_0054591 Stankiewicz-Isidor syndrome null http://purl.obolibrary.org/obo/MONDO_0054591 node CHEBI_22587 antiviral null http://purl.obolibrary.org/obo/CHEBI_22587 node EFO_0004710 pelvic organ prolapse Text of OMIM 613088 points to OMIM 176780 for disease description. http://www.ebi.ac.uk/efo/EFO_0004710 node EFO_0010262 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate null http://www.ebi.ac.uk/efo/EFO_0010262 node EFO_1000103 Bartholin Gland Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000103 node Orphanet_2190 Congenital hydronephrosis Editor note: TODO check relationship to OMIM:143400 http://www.orpha.net/ORDO/Orphanet_2190 node EFO_1001020 lipoid nephrosis null http://www.ebi.ac.uk/efo/EFO_1001020 node EFO_0010743 sperm measurement null http://www.ebi.ac.uk/efo/EFO_0010743 node HP_0012076 Borderline personality disorder null http://purl.obolibrary.org/obo/HP_0012076 node Orphanet_1241 Bencze syndrome null http://www.orpha.net/ORDO/Orphanet_1241 node UBERON_0001007 digestive system null http://purl.obolibrary.org/obo/UBERON_0001007 node EFO_0003054 obsolete_tibia null http://www.ebi.ac.uk/efo/EFO_0003054 node EFO_0010556 Left ventricular mass to end-diastolic volume ratio null http://www.ebi.ac.uk/efo/EFO_0010556 node Orphanet_295044 Macrodactyly of fingers null http://www.orpha.net/ORDO/Orphanet_295044 node CHEBI_72639 13-HODE null http://purl.obolibrary.org/obo/CHEBI_72639 node HP_0030791 Abnormal jaw morphology null http://purl.obolibrary.org/obo/HP_0030791 node EFO_0006498 U-251 MG null http://www.ebi.ac.uk/efo/EFO_0006498 node EFO_0010350 cholesteryl ester 22:6 measurement null http://www.ebi.ac.uk/efo/EFO_0010350 node MONDO_0016127 bacterial myositis null http://purl.obolibrary.org/obo/MONDO_0016127 node GO_0031960 response to corticosteroid null http://purl.obolibrary.org/obo/GO_0031960 node MONDO_0024280 polyarticular arthritis null http://purl.obolibrary.org/obo/MONDO_0024280 node EFO_0010163 dilatation of the sinus of Valsalva null http://www.ebi.ac.uk/efo/EFO_0010163 node NCBITaxon_262728 Haemophilus influenzae R2866 null http://purl.obolibrary.org/obo/NCBITaxon_262728 node EFO_0000018 CS57570 null http://www.ebi.ac.uk/efo/EFO_0000018 node EFO_0010644 Developmental delay with variable intellectual impairment and behavioural abnormalities null http://www.ebi.ac.uk/efo/EFO_0010644 node CHEBI_76071 2-oleoyl-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_76071 node Orphanet_1532 Gómez-López-Hernández syndrome null http://www.orpha.net/ORDO/Orphanet_1532 node UBERON_0002420 basal ganglion null http://purl.obolibrary.org/obo/UBERON_0002420 node EFO_0005129 hepatitis C induced liver cirrhosis null http://www.ebi.ac.uk/efo/EFO_0005129 node EFO_0010328 rostral middle frontal gyrus volume measurement null http://www.ebi.ac.uk/efo/EFO_0010328 node MONDO_0010837 primary hyperparathyroidism (disease) Editor note: check relationship to parent and familiar form http://purl.obolibrary.org/obo/MONDO_0010837 node EFO_0001655 distal null http://www.ebi.ac.uk/efo/EFO_0001655 node MONDO_0000465 atrioventricular block (disease) null http://purl.obolibrary.org/obo/MONDO_0000465 node MONDO_0017142 hemorrhagic disorder due to a qualitative platelet defect null http://purl.obolibrary.org/obo/MONDO_0017142 node PO_0020020 nucellus In seed plants, the megaspores and megagametophyte are retained within the nucellus. If you are annotating to this structure for an angiosperm, please add an additional annotation to plant ovary ovule (PO:0025490). If you are annotating to this structure for an gymnosperm, please add an additional annotation to ovuliferous scale ovule (PO:0025491). If you are annotating to this structure for Zea mays or other grasses, please also add an annotation to the corresponding floret type. Choose the most specific term possible from: spikelet floret (PO:0009082), ear floret (PO:0006354), upper floret of pedicellate spikelet of ear (PO:0006350), upper floret of sessile spikelet of ear (PO:0006352). http://purl.obolibrary.org/obo/PO_0020020 node UBERON_0001890 forebrain null http://purl.obolibrary.org/obo/UBERON_0001890 node Orphanet_2855 Perrault syndrome null http://www.orpha.net/ORDO/Orphanet_2855 node Orphanet_316240 Autosomal recessive spastic ataxia null http://www.orpha.net/ORDO/Orphanet_316240 node EFO_0008544 analgesia requirement measurement null http://www.ebi.ac.uk/efo/EFO_0008544 node Orphanet_98593 Neurogenic palpebral tumor null http://www.orpha.net/ORDO/Orphanet_98593 node EFO_0006750 SCLC-22H null http://www.ebi.ac.uk/efo/EFO_0006750 node EFO_0001743 cell component comparison design null http://www.ebi.ac.uk/efo/EFO_0001743 node PO_0004505 fertilized ovule stage null http://purl.obolibrary.org/obo/PO_0004505 node EFO_0010814 proinsulin measurement null http://www.ebi.ac.uk/efo/EFO_0010814 node EO_0007067 hydroponic plant culture media null http://purl.obolibrary.org/obo/EO_0007067 node Orphanet_79506 Cholesterol-ester transfer protein deficiency null http://www.orpha.net/ORDO/Orphanet_79506 node MONDO_0002720 sella turcica neoplasm null http://purl.obolibrary.org/obo/MONDO_0002720 node MONDO_0001618 balanoposthitis null http://purl.obolibrary.org/obo/MONDO_0001618 node EFO_0008632 ONT MinION null http://www.ebi.ac.uk/efo/EFO_0008632 node EFO_0006275 ES-E14TG2a null http://www.ebi.ac.uk/efo/EFO_0006275 node FBbt_00004204 ventral ectoderm anlage null http://purl.obolibrary.org/obo/FBbt_00004204 node Orphanet_139547 Distal spinal muscular atrophy type 3 null http://www.orpha.net/ORDO/Orphanet_139547 node Orphanet_98681 Rare strabismus and restriction syndrome null http://www.orpha.net/ORDO/Orphanet_98681 node Orphanet_2959 Progéria - short stature - pigmented nevi null http://www.orpha.net/ORDO/Orphanet_2959 node EFO_0006651 MHH-NB-11 null http://www.ebi.ac.uk/efo/EFO_0006651 node MONDO_0003098 mediastinal neural neoplasm null http://purl.obolibrary.org/obo/MONDO_0003098 node EFO_0009719 artificial cardiac pacemaker null http://www.ebi.ac.uk/efo/EFO_0009719 node GO_0033577 protein glycosylation in endoplasmic reticulum null http://purl.obolibrary.org/obo/GO_0033577 node EFO_0008056 C-X-C motif chemokine 10 measurement null http://www.ebi.ac.uk/efo/EFO_0008056 node EFO_1000583 Thymoma Type B3 null http://www.ebi.ac.uk/efo/EFO_1000583 node HP_0010864 Intellectual disability, severe Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision. http://purl.obolibrary.org/obo/HP_0010864 node MONDO_0025481 zoonosis null http://purl.obolibrary.org/obo/MONDO_0025481 node EFO_1001354 Kleine-Levin Syndrome null http://www.ebi.ac.uk/efo/EFO_1001354 node EFO_0008279 semaphorin-3E measurement null http://www.ebi.ac.uk/efo/EFO_0008279 node EFO_0005784 embryonal neoplasm null http://www.ebi.ac.uk/efo/EFO_0005784 node EFO_0004857 vitamin A measurement null http://www.ebi.ac.uk/efo/EFO_0004857 node EFO_0009807 cadaver dissection null http://www.ebi.ac.uk/efo/EFO_0009807 node NCBITaxon_39758 Mayetiola destructor null http://purl.obolibrary.org/obo/NCBITaxon_39758 node Orphanet_3097 Meacham syndrome null http://www.orpha.net/ORDO/Orphanet_3097 node EFO_0002267 NCI-H1793 null http://www.ebi.ac.uk/efo/EFO_0002267 node HP_0009063 Progressive distal muscle weakness null http://purl.obolibrary.org/obo/HP_0009063 node Orphanet_1791 Frontofacionasal dysplasia null http://www.orpha.net/ORDO/Orphanet_1791 node EFO_0009061 TELO2-related intellectual disability-neurodevelopmental disorder null http://www.ebi.ac.uk/efo/EFO_0009061 node Orphanet_254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism null http://www.orpha.net/ORDO/Orphanet_254822 node EFO_0007112 Loucy null http://www.ebi.ac.uk/efo/EFO_0007112 node MONDO_0043424 digestive system infectious disease null http://purl.obolibrary.org/obo/MONDO_0043424 node Orphanet_209038 Qualitative or quantitative defects of myofibrillar proteins null http://www.orpha.net/ORDO/Orphanet_209038 node Orphanet_139480 Autosomal recessive spastic paraplegia type 39 null http://www.orpha.net/ORDO/Orphanet_139480 node MONDO_0002246 perichondritis of auricle null http://purl.obolibrary.org/obo/MONDO_0002246 node EFO_0008367 infant cerebrospinal fluid volume measurement null http://www.ebi.ac.uk/efo/EFO_0008367 node HP_0000902 Rib fusion null http://purl.obolibrary.org/obo/HP_0000902 node MONDO_0014889 striatonigral degeneration, childhood-onset null http://purl.obolibrary.org/obo/MONDO_0014889 node HP_0002144 Tethered cord null http://purl.obolibrary.org/obo/HP_0002144 node EFO_0002355 SUDHL16 null http://www.ebi.ac.uk/efo/EFO_0002355 node UBERON_0000029 lymph node null http://purl.obolibrary.org/obo/UBERON_0000029 node EFO_0007200 cerebral toxoplasmosis null http://www.ebi.ac.uk/efo/EFO_0007200 node Orphanet_314697 Acquired porencephaly null http://www.orpha.net/ORDO/Orphanet_314697 node MONDO_0002334 hematopoietic and lymphoid system neoplasm null http://purl.obolibrary.org/obo/MONDO_0002334 node CHEBI_35366 fatty acid null http://purl.obolibrary.org/obo/CHEBI_35366 node EFO_0009370 radon exposure measurement null http://www.ebi.ac.uk/efo/EFO_0009370 node NCBITaxon_13443 Coffea arabica null http://purl.obolibrary.org/obo/NCBITaxon_13443 node NCBITaxon_1305 Streptococcus sanguinis null http://purl.obolibrary.org/obo/NCBITaxon_1305 node EFO_1000799 afferent loop syndrome null http://www.ebi.ac.uk/efo/EFO_1000799 node HP_0006487 Bowing of the long bones Curvatures of a long bone such as femur, tibia, or fibula. http://purl.obolibrary.org/obo/HP_0006487 node CLO_0013837 GM17202 null http://purl.obolibrary.org/obo/CLO_0013837 node EFO_0010896 small intestine Peyer's patch T cell null http://www.ebi.ac.uk/efo/EFO_0010896 node CHEBI_85210 N-acetyl-D-methionine null http://purl.obolibrary.org/obo/CHEBI_85210 node UBERON_0002174 middle lobe of right lung Called 'middle lobe of lung' in FMA http://purl.obolibrary.org/obo/UBERON_0002174 node UBERON_0001728 nasopharynx null http://purl.obolibrary.org/obo/UBERON_0001728 node EFO_0006968 Estland ecotype null http://www.ebi.ac.uk/efo/EFO_0006968 node Orphanet_217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_217616 node EFO_0009309 Div-Seq null http://www.ebi.ac.uk/efo/EFO_0009309 node EFO_0003612 obsolete_primitive internal carotid artery null http://www.ebi.ac.uk/efo/EFO_0003612 node Orphanet_224 Neonatal diabetes mellitus null http://www.orpha.net/ORDO/Orphanet_224 node EFO_0000030 CS57603 null http://www.ebi.ac.uk/efo/EFO_0000030 node MONDO_0004805 leukocyte disease null http://purl.obolibrary.org/obo/MONDO_0004805 node HP_0011476 Profound sensorineural hearing impairment null http://purl.obolibrary.org/obo/HP_0011476 node EFO_0001022 obsolete_cotyledon null http://www.ebi.ac.uk/efo/EFO_0001022 node EFO_0005163 Uk-3 null http://www.ebi.ac.uk/efo/EFO_0005163 node EFO_1001039 Melkersson-Rosenthal syndrome null http://www.ebi.ac.uk/efo/EFO_1001039 node Orphanet_262146 Partial deletion of the long arm of chromosome 18 null http://www.orpha.net/ORDO/Orphanet_262146 node GO_0046483 heterocycle metabolic process null http://purl.obolibrary.org/obo/GO_0046483 node MONDO_0007608 desmoid tumor Editor note: consider separate class for inherited disease http://purl.obolibrary.org/obo/MONDO_0007608 node EFO_0000579 media probably a role http://www.ebi.ac.uk/efo/EFO_0000579 node CHEBI_27363 Zinc null http://purl.obolibrary.org/obo/CHEBI_27363 node Orphanet_93406 Syndactyly type 5 null http://www.orpha.net/ORDO/Orphanet_93406 node EFO_0001110 GM07000 null http://www.ebi.ac.uk/efo/EFO_0001110 node Orphanet_96145 Distal monosomy 4q null http://www.orpha.net/ORDO/Orphanet_96145 node EFO_0005251 hypotension null http://www.ebi.ac.uk/efo/EFO_0005251 node CL_0000947 IgE plasma cell null http://purl.obolibrary.org/obo/CL_0000947 node MONDO_0024299 vitamin D-dependent rickets null http://purl.obolibrary.org/obo/MONDO_0024299 node HP_0009810 Abnormality of upper limb joint null http://purl.obolibrary.org/obo/HP_0009810 node Orphanet_279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency null http://www.orpha.net/ORDO/Orphanet_279934 node MONDO_0024618 poliovirus infection Editor note: TODO placeholder class for poliovirus in NCIT http://purl.obolibrary.org/obo/MONDO_0024618 node Orphanet_166305 Benign infantile seizures associated to mild gastroenteritis null http://www.orpha.net/ORDO/Orphanet_166305 node HP_0031844 Euphoria null http://purl.obolibrary.org/obo/HP_0031844 node EFO_0004136 obsolete_basal cell nevus syndrome null http://www.ebi.ac.uk/efo/EFO_0004136 node UBERON_0000978 leg we use the less open to misinterpretation 'hindlimb zeugopod'. Editor note: currently declared as overlapping foot, as AOs disagree over whether some ankle parts are in the leg or foot http://purl.obolibrary.org/obo/UBERON_0000978 node Orphanet_2075 Genito-palato-cardiac syndrome null http://www.orpha.net/ORDO/Orphanet_2075 node EFO_0009689 urethral disease null http://www.ebi.ac.uk/efo/EFO_0009689 node GO_0007052 mitotic spindle organization null http://purl.obolibrary.org/obo/GO_0007052 node NCBITaxon_8965 Gyps null http://purl.obolibrary.org/obo/NCBITaxon_8965 node EFO_0010505 isocitrate measurement null http://www.ebi.ac.uk/efo/EFO_0010505 node EFO_0006352 laryngeal squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0006352 node NCBITaxon_177416 Francisella tularensis subsp. tularensis SCHU S4 null http://purl.obolibrary.org/obo/NCBITaxon_177416 node EFO_0002679 urocortin I null http://www.ebi.ac.uk/efo/EFO_0002679 node Orphanet_2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type null http://www.orpha.net/ORDO/Orphanet_2634 node EFO_0007629 hemoglobin A1 measurement null http://www.ebi.ac.uk/efo/EFO_0007629 node EFO_0004224 Coronary Restenosis null http://www.ebi.ac.uk/efo/EFO_0004224 node Orphanet_98372 Hemolytic anemia due to a disorder of glycolytic enzymes null http://www.orpha.net/ORDO/Orphanet_98372 node HP_0000359 Abnormality of the inner ear null http://purl.obolibrary.org/obo/HP_0000359 node Orphanet_85162 Facial onset sensory and motor neuronopathy null http://www.orpha.net/ORDO/Orphanet_85162 node Orphanet_746 Mitochondrial trifunctional protein deficiency null http://www.orpha.net/ORDO/Orphanet_746 node EFO_0004037 MEF cell line null http://www.ebi.ac.uk/efo/EFO_0004037 node EFO_0009777 citrulline measurement null http://www.ebi.ac.uk/efo/EFO_0009777 node MONDO_0003656 hemoglobinuria May be obsoleted as it represents a finding http://purl.obolibrary.org/obo/MONDO_0003656 node MONDO_0024307 prothrombin deficiency null http://purl.obolibrary.org/obo/MONDO_0024307 node CL_0002015 Kit-negative, Ly-76 high polychromatophilic erythroblast null http://purl.obolibrary.org/obo/CL_0002015 node HP_0000767 Pectus excavatum null http://purl.obolibrary.org/obo/HP_0000767 node UO_0000098 milliliter null http://purl.obolibrary.org/obo/UO_0000098 node EFO_0010112 acetate measurement null http://www.ebi.ac.uk/efo/EFO_0010112 node EFO_0007291 granuloma inguinale null http://www.ebi.ac.uk/efo/EFO_0007291 node CL_0002423 DN2a thymocyte Observed in mice. http://purl.obolibrary.org/obo/CL_0002423 node HP_0003710 Exercise-induced muscle cramps null http://purl.obolibrary.org/obo/HP_0003710 node EFO_0006440 HOP92 null http://www.ebi.ac.uk/efo/EFO_0006440 node Orphanet_248408 Familial hypodysfibrinogenemia null http://www.orpha.net/ORDO/Orphanet_248408 node NCBITaxon_813 Chlamydia trachomatis null http://purl.obolibrary.org/obo/NCBITaxon_813 node CHEBI_64574 lysophosphatidylethanolamine null http://purl.obolibrary.org/obo/CHEBI_64574 node Orphanet_834 Free sialic acid storage disease null http://www.orpha.net/ORDO/Orphanet_834 node Orphanet_324713 Hereditary cerebral hemorrhage with amyloidosis, Italian type null http://www.orpha.net/ORDO/Orphanet_324713 node CHEBI_7772 omeprazole null http://purl.obolibrary.org/obo/CHEBI_7772 node MONDO_0003263 childhood cerebellar neoplasm null http://purl.obolibrary.org/obo/MONDO_0003263 node EFO_0005074 spotted antibody reporter null http://www.ebi.ac.uk/efo/EFO_0005074 node MONDO_0003744 spindle cell intraocular melanoma null http://purl.obolibrary.org/obo/MONDO_0003744 node CHEBI_2955 azithromycin null http://purl.obolibrary.org/obo/CHEBI_2955 node CLO_0016491 GM17800 null http://purl.obolibrary.org/obo/CLO_0016491 node EFO_0009865 transcriptome measurement null http://www.ebi.ac.uk/efo/EFO_0009865 node Orphanet_93928 Epispadias null http://www.orpha.net/ORDO/Orphanet_93928 node EFO_0002988 ILSXISS52/TejJ null http://www.ebi.ac.uk/efo/EFO_0002988 node CHEBI_25350 mevalonate null http://purl.obolibrary.org/obo/CHEBI_25350 node Orphanet_647 Nijmegen breakage syndrome null http://www.orpha.net/ORDO/Orphanet_647 node UO_0000186 dimensionless unit null http://purl.obolibrary.org/obo/UO_0000186 node MONDO_0016286 adenoid cystic carcinoma of the cervix uteri null http://purl.obolibrary.org/obo/MONDO_0016286 node CHEBI_64163 diquat null http://purl.obolibrary.org/obo/CHEBI_64163 node EFO_0002825 obsolete_Jurkat null http://www.ebi.ac.uk/efo/EFO_0002825 node EFO_0008221 macrophage migration inhibitory factor measurement null http://www.ebi.ac.uk/efo/EFO_0008221 node EFO_0007192 Caplan's syndrome null http://www.ebi.ac.uk/efo/EFO_0007192 node HP_0040165 Periostitis null http://purl.obolibrary.org/obo/HP_0040165 node HP_0000054 Micropenis null http://purl.obolibrary.org/obo/HP_0000054 node Orphanet_166299 Benign partial epilepsy of infancy with complex partial seizures null http://www.orpha.net/ORDO/Orphanet_166299 node EFO_0008925 Single cell ATAC-seq (cell index) null http://www.ebi.ac.uk/efo/EFO_0008925 node Orphanet_156610 Rare genetic respiratory disease null http://www.orpha.net/ORDO/Orphanet_156610 node MONDO_0016374 cranial neuralgia null http://purl.obolibrary.org/obo/MONDO_0016374 node EFO_0000945 obsolete_limb bone null http://www.ebi.ac.uk/efo/EFO_0000945 node NCBITaxon_9557 Papio hamadryas null http://purl.obolibrary.org/obo/NCBITaxon_9557 node EFO_0002913 Cutaneous T-cell lymphoma null http://www.ebi.ac.uk/efo/EFO_0002913 node MONDO_0004095 B-cell neoplasm null http://purl.obolibrary.org/obo/MONDO_0004095 node EFO_0004155 FASTQ format null http://www.ebi.ac.uk/efo/EFO_0004155 node EFO_0008058 C-X-C motif chemokine 5 measurement null http://www.ebi.ac.uk/efo/EFO_0008058 node Orphanet_94066 Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia null http://www.orpha.net/ORDO/Orphanet_94066 node HP_0000112 Nephropathy null http://purl.obolibrary.org/obo/HP_0000112 node EFO_0000850 obsolete_caecum null http://www.ebi.ac.uk/efo/EFO_0000850 node NCBITaxon_12280 Tomato ringspot virus null http://purl.obolibrary.org/obo/NCBITaxon_12280 node EFO_1001449 Vertebrobasilar insufficiency null http://www.ebi.ac.uk/efo/EFO_1001449 node Orphanet_306530 Congenital hereditary facial paralysis with variable hearing loss null http://www.orpha.net/ORDO/Orphanet_306530 node Orphanet_79402 Generalized junctional epidermolysis bullosa, non-Herlitz type null http://www.orpha.net/ORDO/Orphanet_79402 node EFO_0001191 HMT3522S1 null http://www.ebi.ac.uk/efo/EFO_0001191 node EFO_1000876 common bile duct neoplasm null http://www.ebi.ac.uk/efo/EFO_1000876 node EFO_0000552 invasive breast ductal and lobular carcinoma null http://www.ebi.ac.uk/efo/EFO_0000552 node EFO_0002520 neurointermediate lobe null http://www.ebi.ac.uk/efo/EFO_0002520 node EFO_0000828 obsolete_nose structure null http://www.ebi.ac.uk/efo/EFO_0000828 node MONDO_0004183 axonal neuropathy null http://purl.obolibrary.org/obo/MONDO_0004183 node HP_0000200 Short lingual frenulum null http://purl.obolibrary.org/obo/HP_0000200 node NCBITaxon_3326 Larix laricina null http://purl.obolibrary.org/obo/NCBITaxon_3326 node Orphanet_166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes null http://www.orpha.net/ORDO/Orphanet_166475 node Orphanet_93581 Atypical hemolytic-uremic syndrome with anti-factor H antibodies null http://www.orpha.net/ORDO/Orphanet_93581 node Orphanet_171723 White sponge nevus null http://www.orpha.net/ORDO/Orphanet_171723 node EFO_1000964 hemorrhagic disease of newborn null http://www.ebi.ac.uk/efo/EFO_1000964 node UBERON_0002827 vestibulocochlear ganglion null http://purl.obolibrary.org/obo/UBERON_0002827 node Orphanet_284139 Larsen-like syndrome, B3GAT3 type null http://www.orpha.net/ORDO/Orphanet_284139 node Orphanet_1493 Vici syndrome null http://www.orpha.net/ORDO/Orphanet_1493 node EFO_0000435 ectoderm anlage in statu nascendi null http://www.ebi.ac.uk/efo/EFO_0000435 node EFO_0004806 asbestos exposure measurement null http://www.ebi.ac.uk/efo/EFO_0004806 node Orphanet_83419 Proximal spinal muscular atrophy type 3 null http://www.orpha.net/ORDO/Orphanet_83419 node EFO_1001321 extrinsic allergic alveolitis null http://www.ebi.ac.uk/efo/EFO_1001321 node EFO_1001116 polyradiculoneuropathy null http://www.ebi.ac.uk/efo/EFO_1001116 node EFO_1000097 Atypical Carcinoid Tumor null http://www.ebi.ac.uk/efo/EFO_1000097 node EFO_0005546 congenital disorder of glycosylation type II null http://www.ebi.ac.uk/efo/EFO_0005546 node EFO_0004619 factor VII measurement null http://www.ebi.ac.uk/efo/EFO_0004619 node EFO_0010194 barcode null http://www.ebi.ac.uk/efo/EFO_0010194 node UBERON_0002048 lung Snakes and limbless lizards typically possess only the right lung as a major respiratory organ; the left lung is greatly reduced, or even absent. Amphisbaenians, however, have the opposite arrangement, with a major left lung, and a reduced or absent right lung [WP] http://purl.obolibrary.org/obo/UBERON_0002048 node MONDO_0060720 congenital disorder of glycosylation with defective fucosylation null http://purl.obolibrary.org/obo/MONDO_0060720 node EFO_1001818 oral submucous fibrosis null http://www.ebi.ac.uk/efo/EFO_1001818 node MONDO_0060533 microcephaly, short stature, and limb abnormalities null http://purl.obolibrary.org/obo/MONDO_0060533 node EFO_0003005 ILSXISS107/TejJ null http://www.ebi.ac.uk/efo/EFO_0003005 node CHEBI_35227 4-nitrotoluene null http://purl.obolibrary.org/obo/CHEBI_35227 node Orphanet_295152 Polydactyly of an index finger, unilateral null http://www.orpha.net/ORDO/Orphanet_295152 node EFO_0000523 growth condition null http://www.ebi.ac.uk/efo/EFO_0000523 node OBI_0400155 water bath null http://purl.obolibrary.org/obo/OBI_0400155 node Orphanet_364541 Frontootopalatodigital syndrome null http://www.orpha.net/ORDO/Orphanet_364541 node UBERON_0002728 entorhinal cortex null http://purl.obolibrary.org/obo/UBERON_0002728 node EFO_1001204 sweat gland neoplasm null http://www.ebi.ac.uk/efo/EFO_1001204 node EFO_1000204 Conjunctival Melanoma null http://www.ebi.ac.uk/efo/EFO_1000204 node EFO_0005634 ATC Classification System In the Anatomical Therapeutic Chemical (ATC) classification system, the active substances are divided into different groups according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. Drugs are classified in groups at five different levels. The drugs are divided into fourteen main groups (1st level), with pharmacological/therapeutic subgroups (2nd level). The 3rd and 4th levels are chemical/pharmacological/therapeutic subgroups and the 5th level is the chemical substance. The 2nd, 3rd and 4th levels are often used to identify pharmacological subgroups when that is considered more appropriate than therapeutic or chemical subgroups. http://www.ebi.ac.uk/efo/EFO_0005634 node EFO_0004707 infantile hypertrophic pyloric stenosis null http://www.ebi.ac.uk/efo/EFO_0004707 node EFO_0010259 intellectual developmental disorder with macrocephaly, seizures, and speech delay null http://www.ebi.ac.uk/efo/EFO_0010259 node Orphanet_206713 Distal spinal muscular atrophy null http://www.orpha.net/ORDO/Orphanet_206713 node EFO_0003707 obsolete_atrioventricular ring null http://www.ebi.ac.uk/efo/EFO_0003707 node Orphanet_307967 Punctate palmoplantar keratoderma null http://www.orpha.net/ORDO/Orphanet_307967 node EFO_0010301 cuneus cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010301 node Orphanet_98855 Autosomal recessive Emery-Dreifuss muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_98855 node CLO_0030305 GM15029 null http://purl.obolibrary.org/obo/CLO_0030305 node CHEBI_50673 methimazole null http://purl.obolibrary.org/obo/CHEBI_50673 node Orphanet_1646 Partial chromosome Y deletion null http://www.orpha.net/ORDO/Orphanet_1646 node EFO_0002046 BC-3 null http://www.ebi.ac.uk/efo/EFO_0002046 node EFO_1001906 panic disorder with agoraphobia null http://www.ebi.ac.uk/efo/EFO_1001906 node EFO_0005855 narcolepsy without cataplexy null http://www.ebi.ac.uk/efo/EFO_0005855 node CHEBI_5132 flutamide null http://purl.obolibrary.org/obo/CHEBI_5132 node Orphanet_300313 Congenital cataract-hearing loss-severe developmental delay syndrome null http://www.orpha.net/ORDO/Orphanet_300313 node NCBITaxon_5693 Trypanosoma cruzi null http://purl.obolibrary.org/obo/NCBITaxon_5693 node EFO_0005165 Cal-0 null http://www.ebi.ac.uk/efo/EFO_0005165 node EFO_0009978 sn-Hi-C null http://www.ebi.ac.uk/efo/EFO_0009978 node EFO_0007599 L1-S8 null http://www.ebi.ac.uk/efo/EFO_0007599 node NCBITaxon_61362 Acanthopleura null http://purl.obolibrary.org/obo/NCBITaxon_61362 node EFO_0010347 cholesteryl ester 20:3 measurement null http://www.ebi.ac.uk/efo/EFO_0010347 node MONDO_0002933 osteosclerosis null http://purl.obolibrary.org/obo/MONDO_0002933 node EFO_1000105 Basaloid Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000105 node Orphanet_98943 Coloboma of eye lens null http://www.orpha.net/ORDO/Orphanet_98943 node CHEBI_22917 phytogenic insecticide null http://purl.obolibrary.org/obo/CHEBI_22917 node EFO_0005943 response to bevacizumab null http://www.ebi.ac.uk/efo/EFO_0005943 node MONDO_0012909 skeletal defects, genital hypoplasia, and mental retardation null http://purl.obolibrary.org/obo/MONDO_0012909 node Orphanet_1044 Anemia due to adenosine triphosphatase deficiency null http://www.orpha.net/ORDO/Orphanet_1044 node MONDO_0001085 interstitial nephritis null http://purl.obolibrary.org/obo/MONDO_0001085 node EFO_0005253 postprandial hypotension null http://www.ebi.ac.uk/efo/EFO_0005253 node EFO_0006864 breastfeeding duration null http://www.ebi.ac.uk/efo/EFO_0006864 node EFO_0007687 microRNA profiling by RT-PCR null http://www.ebi.ac.uk/efo/EFO_0007687 node EFO_0007706 manic or hypomanic episode null http://www.ebi.ac.uk/efo/EFO_0007706 node EFO_0004301 blood viscosity null http://www.ebi.ac.uk/efo/EFO_0004301 node Orphanet_262860 Partial duplication of the long arm of chromosome 4 null http://www.orpha.net/ORDO/Orphanet_262860 node NCBITaxon_37862 Heterorhabditis bacteriophora null http://purl.obolibrary.org/obo/NCBITaxon_37862 node Orphanet_33572 5-oxoprolinase deficiency null http://www.orpha.net/ORDO/Orphanet_33572 node EFO_0009468 jaw disease null http://www.ebi.ac.uk/efo/EFO_0009468 node EFO_0006747 RMUG-S null http://www.ebi.ac.uk/efo/EFO_0006747 node MONDO_0000173 muscular dystrophy-dystroglycanopathy, type C null http://purl.obolibrary.org/obo/MONDO_0000173 node CHEBI_142420 2-aminooctanoate null http://purl.obolibrary.org/obo/CHEBI_142420 node Orphanet_911 Combined immunodeficiency due to ZAP70 deficiency null http://www.orpha.net/ORDO/Orphanet_911 node EFO_0007104 iPS-17b null http://www.ebi.ac.uk/efo/EFO_0007104 node NCBITaxon_43179 Spermophilus tridecemlineatus null http://purl.obolibrary.org/obo/NCBITaxon_43179 node Orphanet_101081 Charcot-Marie-Tooth disease type 1A null http://www.orpha.net/ORDO/Orphanet_101081 node UBERON_0007295 presumptive rhombomere 8 null http://purl.obolibrary.org/obo/UBERON_0007295 node MONDO_0014553 Tenorio syndrome null http://purl.obolibrary.org/obo/MONDO_0014553 node MONDO_0013626 psoriasis 14, pustular null http://purl.obolibrary.org/obo/MONDO_0013626 node EFO_0009274 Epstein Barr viral capsid antigen IgG measurement null http://www.ebi.ac.uk/efo/EFO_0009274 node NCBITaxon_1773 Mycobacterium tuberculosis null http://purl.obolibrary.org/obo/NCBITaxon_1773 node Orphanet_371071 Congenital disorder of glycosylation with epilepsy as a major feature null http://www.orpha.net/ORDO/Orphanet_371071 node Orphanet_3177 Corneal-cerebellar syndrome null http://www.orpha.net/ORDO/Orphanet_3177 node EFO_0008733 eWGA null http://www.ebi.ac.uk/efo/EFO_0008733 node NCBITaxon_263 Francisella tularensis null http://purl.obolibrary.org/obo/NCBITaxon_263 node EFO_0006354 105KC null http://www.ebi.ac.uk/efo/EFO_0006354 node UBERON_0000152 pelvic fin null http://purl.obolibrary.org/obo/UBERON_0000152 node Orphanet_98678 X-linked recessive optic atrophy null http://www.orpha.net/ORDO/Orphanet_98678 node MONDO_0015686 primary peritoneal carcinoma (disease) null http://purl.obolibrary.org/obo/MONDO_0015686 node Orphanet_102011 Lissencephaly type 3 null http://www.orpha.net/ORDO/Orphanet_102011 node UBERON_0007383 enveloping layer of ectoderm null http://purl.obolibrary.org/obo/UBERON_0007383 node Orphanet_99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G null http://www.orpha.net/ORDO/Orphanet_99941 node EFO_1001871 acquired cold urticaria null http://www.ebi.ac.uk/efo/EFO_1001871 node Orphanet_3235 Progressive deafness with stapes fixation null http://www.orpha.net/ORDO/Orphanet_3235 node Orphanet_2308 Jacobsen syndrome A clinically recognized malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Most patients have a THROMBOCYTOPENIA and platelet dysfunction known also as Paris-Trousseau type thrombocytopenia. http://www.orpha.net/ORDO/Orphanet_2308 node EFO_0009362 nicotine withdrawal measurement null http://www.ebi.ac.uk/efo/EFO_0009362 node MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome null http://purl.obolibrary.org/obo/MONDO_0020831 node MONDO_0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA null http://purl.obolibrary.org/obo/MONDO_0032755 node Orphanet_34514 Autosomal recessive limb-girdle muscular dystrophy type 2G null http://www.orpha.net/ORDO/Orphanet_34514 node EFO_0009175 response to synacthen null http://www.ebi.ac.uk/efo/EFO_0009175 node EFO_0008821 MPE-seq null http://www.ebi.ac.uk/efo/EFO_0008821 node EFO_0006442 HT115 null http://www.ebi.ac.uk/efo/EFO_0006442 node UBERON_2001129 pharyngeal pouches 2-6 null http://purl.obolibrary.org/obo/UBERON_2001129 node EFO_1001988 Juvenile Polymyositis null http://www.ebi.ac.uk/efo/EFO_1001988 node EFO_0009583 place of residence measurement null http://www.ebi.ac.uk/efo/EFO_0009583 node EFO_0008634 ONT PremethION null http://www.ebi.ac.uk/efo/EFO_0008634 node EFO_0000636 obsolete_organism status Use PATO qualities , e.g. dead http://www.ebi.ac.uk/efo/EFO_0000636 node CHEBI_34071 1-arachidonoyl-sn-glycerol null http://purl.obolibrary.org/obo/CHEBI_34071 node EFO_0002628 peripartum cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_0002628 node FBbt_00005614 embryonic epipharynx null http://purl.obolibrary.org/obo/FBbt_00005614 node CHEBI_35397 tartrate(1-) null http://purl.obolibrary.org/obo/CHEBI_35397 node EFO_0003573 obsolete_neural crest diencephalon null http://www.ebi.ac.uk/efo/EFO_0003573 node EFO_0003368 obsolete_hindgut proper primordium null http://www.ebi.ac.uk/efo/EFO_0003368 node HP_0000308 Microretrognathia null http://purl.obolibrary.org/obo/HP_0000308 node Orphanet_181437 Rare syndromic dyslipidemia null http://www.orpha.net/ORDO/Orphanet_181437 node EFO_0008318 vitamin K-dependent protein C measurement null http://www.ebi.ac.uk/efo/EFO_0008318 node Orphanet_3323 Thrombocytopenia - Robin sequence null http://www.orpha.net/ORDO/Orphanet_3323 node Orphanet_91396 Isolated cryptophthalmia null http://www.orpha.net/ORDO/Orphanet_91396 node EFO_0008223 mannan-binding lectin serine protease 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008223 node MONDO_0004741 tyrosinemia null http://purl.obolibrary.org/obo/MONDO_0004741 node NCBITaxon_141969 Oscheius tipulae null http://purl.obolibrary.org/obo/NCBITaxon_141969 node EFO_1000772 sweat gland disease null http://www.ebi.ac.uk/efo/EFO_1000772 node HP_0000529 Progressive visual loss null http://purl.obolibrary.org/obo/HP_0000529 node Orphanet_437 Hypophosphatemic rickets null http://www.orpha.net/ORDO/Orphanet_437 node EFO_0000243 obsolete_Malpighian tubule null http://www.ebi.ac.uk/efo/EFO_0000243 node EFO_0009671 hereditary ataxia null http://www.ebi.ac.uk/efo/EFO_0009671 node EFO_0010664 pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5 null http://www.ebi.ac.uk/efo/EFO_0010664 node EFO_0000724 timepoint null http://www.ebi.ac.uk/efo/EFO_0000724 node CLO_0031234 GM14439 null http://purl.obolibrary.org/obo/CLO_0031234 node CHEBI_64523 phosphatidylcholine 36:3 null http://purl.obolibrary.org/obo/CHEBI_64523 node CHEBI_50504 osmotic diuretic null http://purl.obolibrary.org/obo/CHEBI_50504 node EFO_0005354 milligram per kilogram body weight null http://www.ebi.ac.uk/efo/EFO_0005354 node EFO_0003456 obsolete_vagal placode 1 null http://www.ebi.ac.uk/efo/EFO_0003456 node EFO_0008406 susceptibility to plantar warts measurement null http://www.ebi.ac.uk/efo/EFO_0008406 node Orphanet_3411 Double uterus - hemivagina - renal agenesis null http://www.orpha.net/ORDO/Orphanet_3411 node Orphanet_404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome null http://www.orpha.net/ORDO/Orphanet_404481 node UBERON_0000362 renal medulla null http://purl.obolibrary.org/obo/UBERON_0000362 node EFO_0003864 obsolete_genitourinary system null http://www.ebi.ac.uk/efo/EFO_0003864 node MONDO_0018648 Keratocystic odontogenic tumor null http://purl.obolibrary.org/obo/MONDO_0018648 node EFO_1000174 Chondroid Chordoma null http://www.ebi.ac.uk/efo/EFO_1000174 node MONDO_0016235 complex vascular malformation with associated anomalies null http://purl.obolibrary.org/obo/MONDO_0016235 node UBERON_0003077 paraxial mesoderm null http://purl.obolibrary.org/obo/UBERON_0003077 node EFO_0003677 obsolete_neurocranial trabecula null http://www.ebi.ac.uk/efo/EFO_0003677 node EFO_0000331 chondroblastoma null http://www.ebi.ac.uk/efo/EFO_0000331 node EFO_0010752 nucleotide sequence size null http://www.ebi.ac.uk/efo/EFO_0010752 node EFO_1001012 leptomeningeal metastasis null http://www.ebi.ac.uk/efo/EFO_1001012 node Orphanet_338 Familial multiple fibrofolliculoma null http://www.orpha.net/ORDO/Orphanet_338 node EFO_0000144 CS57848 null http://www.ebi.ac.uk/efo/EFO_0000144 node EFO_0005442 OVCAR4 null http://www.ebi.ac.uk/efo/EFO_0005442 node EFO_0001136 GM12144 null http://www.ebi.ac.uk/efo/EFO_0001136 node Orphanet_399685 Rare male infertility due to testicular endocrine disorder null http://www.orpha.net/ORDO/Orphanet_399685 node PO_0007113 rosette growth stage null http://purl.obolibrary.org/obo/PO_0007113 node Orphanet_163665 Spondyloepiphyseal dysplasia tarda, Kohn type null http://www.orpha.net/ORDO/Orphanet_163665 node EFO_1000262 Gallbladder Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000262 node NCBITaxon_8023 Oncorhynchus nerka null http://purl.obolibrary.org/obo/NCBITaxon_8023 node Orphanet_62 Autosomal recessive limb-girdle muscular dystrophy type 2D null http://www.orpha.net/ORDO/Orphanet_62 node Orphanet_132 Butyrylcholinesterase deficiency null http://www.orpha.net/ORDO/Orphanet_132 node EFO_0003765 sign or symptom null http://www.ebi.ac.uk/efo/EFO_0003765 node NCBITaxon_83334 Escherichia coli O157:H7 null http://purl.obolibrary.org/obo/NCBITaxon_83334 node EFO_0010840 GM21786 null http://www.ebi.ac.uk/efo/EFO_0010840 node MONDO_0004338 retinal cell cancer null http://purl.obolibrary.org/obo/MONDO_0004338 node EFO_0002123 C4II null http://www.ebi.ac.uk/efo/EFO_0002123 node EFO_0005325 response to angiotensin-converting enzyme inhibitor null http://www.ebi.ac.uk/efo/EFO_0005325 node NCBITaxon_469008 Escherichia coli BL21(DE3) null http://purl.obolibrary.org/obo/NCBITaxon_469008 node EFO_0001019 obsolete_radicle null http://www.ebi.ac.uk/efo/EFO_0001019 node EFO_1000350 Malignant Bone Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000350 node MONDO_0021187 hyperlipidemia (disease) null http://purl.obolibrary.org/obo/MONDO_0021187 node Orphanet_166078 Von Willebrand disease type 1 null http://www.orpha.net/ORDO/Orphanet_166078 node Orphanet_95710 Non-acquired premature ovarian failure null http://www.orpha.net/ORDO/Orphanet_95710 node CL_0000803 CD4-negative CD8-negative gamma-delta intraepithelial T cell null http://purl.obolibrary.org/obo/CL_0000803 node EFO_0002211 JAR null http://www.ebi.ac.uk/efo/EFO_0002211 node Orphanet_93608 Autosomal dominant distal renal tubular acidosis null http://www.orpha.net/ORDO/Orphanet_93608 node EFO_0001107 GM06985 null http://www.ebi.ac.uk/efo/EFO_0001107 node Orphanet_183583 Genetic head and neck malformation null http://www.orpha.net/ORDO/Orphanet_183583 node Orphanet_399380 Osteonecrosis of genetic origin null http://www.orpha.net/ORDO/Orphanet_399380 node MONDO_0021452 benign neoplasm of cornea null http://purl.obolibrary.org/obo/MONDO_0021452 node EFO_0007096 iPS DF 19.11 null http://www.ebi.ac.uk/efo/EFO_0007096 node Orphanet_261330 Distal 22q11.2 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261330 node Orphanet_2189 Hydrolethalus null http://www.orpha.net/ORDO/Orphanet_2189 node EFO_0006555 COR-L26 null http://www.ebi.ac.uk/efo/EFO_0006555 node Orphanet_231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 null http://www.orpha.net/ORDO/Orphanet_231117 node Orphanet_2026 Gingival fibromatosis-hypertrichosis syndrome null http://www.orpha.net/ORDO/Orphanet_2026 node EFO_0003061 OVCAR3 null http://www.ebi.ac.uk/efo/EFO_0003061 node Orphanet_1507 Autosomal recessive Robinow syndrome null http://www.orpha.net/ORDO/Orphanet_1507 node NCBITaxon_167481 Lactobacillus mindensis null http://purl.obolibrary.org/obo/NCBITaxon_167481 node Orphanet_98690 Myasthenic syndrome with eye involvement null http://www.orpha.net/ORDO/Orphanet_98690 node EFO_0007184 bronchopneumonia null http://www.ebi.ac.uk/efo/EFO_0007184 node Orphanet_352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency null http://www.orpha.net/ORDO/Orphanet_352563 node CLO_0034796 AG04351 null http://purl.obolibrary.org/obo/CLO_0034796 node HP_0002018 Nausea null http://purl.obolibrary.org/obo/HP_0002018 node GO_0050916 sensory perception of sweet taste null http://purl.obolibrary.org/obo/GO_0050916 node EFO_0006643 MCF10DCIS.COM null http://www.ebi.ac.uk/efo/EFO_0006643 node Orphanet_2114 Hip dysplasia, Beukes type null http://www.orpha.net/ORDO/Orphanet_2114 node HP_0000699 Diastema Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth. http://purl.obolibrary.org/obo/HP_0000699 node HP_0004751 Paroxysmal ventricular tachycardia null http://purl.obolibrary.org/obo/HP_0004751 node NCBITaxon_6549 Mytilus californianus null http://purl.obolibrary.org/obo/NCBITaxon_6549 node MONDO_0024647 urolithiasis null http://purl.obolibrary.org/obo/MONDO_0024647 node OBI_0302903 nucleic acid hybridization null http://purl.obolibrary.org/obo/OBI_0302903 node Orphanet_210115 Sterile multifocal osteomyelitis with periostitis and pustulosis null http://www.orpha.net/ORDO/Orphanet_210115 node EFO_0001395 obsolete_axilla null http://www.ebi.ac.uk/efo/EFO_0001395 node NCBITaxon_1488 Clostridium acetobutylicum null http://purl.obolibrary.org/obo/NCBITaxon_1488 node PO_0020019 megaspore null http://purl.obolibrary.org/obo/PO_0020019 node MONDO_0024389 anaerobic bacteria infectious disease Editor note: DP http://purl.obolibrary.org/obo/MONDO_0024389 node Orphanet_98369 Rare constitutional hemolytic anemia due to an enzyme disorder Editor note: consider merging with parent http://www.orpha.net/ORDO/Orphanet_98369 node Orphanet_2202 Palmoplantar keratoderma-deafness syndrome null http://www.orpha.net/ORDO/Orphanet_2202 node Orphanet_252202 Constitutional mismatch repair deficiency syndrome null http://www.orpha.net/ORDO/Orphanet_252202 node EFO_0007493 spondylolisthesis null http://www.ebi.ac.uk/efo/EFO_0007493 node Orphanet_3342 Arterial tortuosity syndrome null http://www.orpha.net/ORDO/Orphanet_3342 node CL_0000007 early embryonic cell null http://purl.obolibrary.org/obo/CL_0000007 node MONDO_0008734 adrenocortical carcinoma, hereditary null http://purl.obolibrary.org/obo/MONDO_0008734 node EFO_0009053 Primary progressive aphasia null http://www.ebi.ac.uk/efo/EFO_0009053 node EFO_0001278 blastula 512-cell null http://www.ebi.ac.uk/efo/EFO_0001278 node UO_0000042 picomole null http://purl.obolibrary.org/obo/UO_0000042 node Orphanet_275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia null http://www.orpha.net/ORDO/Orphanet_275729 node EFO_0000694 severe acute respiratory syndrome null http://www.ebi.ac.uk/efo/EFO_0000694 node MONDO_0024477 liver and intrahepatic bile duct neoplasm null http://purl.obolibrary.org/obo/MONDO_0024477 node EFO_0008480 mitochondrial DNA null http://www.ebi.ac.uk/efo/EFO_0008480 node HP_0004370 Abnormality of temperature regulation null http://purl.obolibrary.org/obo/HP_0004370 node Orphanet_79151 Acrokeratosis verruciformis of Hopf null http://www.orpha.net/ORDO/Orphanet_79151 node Orphanet_207049 Qualitative or quantitative protein defects in neuromuscular diseases null http://www.orpha.net/ORDO/Orphanet_207049 node Orphanet_293725 Blepharophimosis-intellectual disability syndrome, Verloes type null http://www.orpha.net/ORDO/Orphanet_293725 node CL_0001022 CD115-positive monocyte These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000033)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001022 node Orphanet_495 Transgrediens et progrediens palmoplantar keratoderma null http://www.orpha.net/ORDO/Orphanet_495 node Orphanet_163596 Hb Bart's hydrops fetalis null http://www.orpha.net/ORDO/Orphanet_163596 node HP_0000707 Abnormality of the nervous system The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. http://purl.obolibrary.org/obo/HP_0000707 node Orphanet_2699 Median nodule of the upper lip null http://www.orpha.net/ORDO/Orphanet_2699 node HP_0002352 Leukoencephalopathy This feature can be demonstrated by magnetic resonance imaging or computer tomography. http://purl.obolibrary.org/obo/HP_0002352 node EFO_0002691 retinal ganglion null http://www.ebi.ac.uk/efo/EFO_0002691 node EFO_0007641 embryonic day 9.5 null http://www.ebi.ac.uk/efo/EFO_0007641 node Orphanet_156607 Genetic biliary tract disease null http://www.orpha.net/ORDO/Orphanet_156607 node CL_0000492 CD4-positive helper T cell null http://purl.obolibrary.org/obo/CL_0000492 node Orphanet_226298 Central congenital hypothyroidism null http://www.orpha.net/ORDO/Orphanet_226298 node EFO_0003147 mild heart failure null http://www.ebi.ac.uk/efo/EFO_0003147 node Orphanet_163684 Leukoencephalopathy - dystonia - motor neuropathy null http://www.orpha.net/ORDO/Orphanet_163684 node GO_1905119 response to haloperidol null http://purl.obolibrary.org/obo/GO_1905119 node CL_0000890 alternatively activated macrophage Role or process: tissue remodeling. http://purl.obolibrary.org/obo/CL_0000890 node Orphanet_1766 Dysequilibrium syndrome null http://www.orpha.net/ORDO/Orphanet_1766 node EFO_1001092 patellofemoral pain syndrome null http://www.ebi.ac.uk/efo/EFO_1001092 node Orphanet_306527 Isolated hereditary congenital facial paralysis null http://www.orpha.net/ORDO/Orphanet_306527 node Orphanet_98627 Posterior corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98627 node NCBITaxon_3258 Equisetum arvense null http://purl.obolibrary.org/obo/NCBITaxon_3258 node GO_0071467 cellular response to pH null http://purl.obolibrary.org/obo/GO_0071467 node EFO_0005847 increased risk null http://www.ebi.ac.uk/efo/EFO_0005847 node EFO_0010467 carboxylic acid anion measurement null http://www.ebi.ac.uk/efo/EFO_0010467 node Orphanet_96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 null http://www.orpha.net/ORDO/Orphanet_96182 node NCBITaxon_27291 Saccharomyces paradoxus null http://purl.obolibrary.org/obo/NCBITaxon_27291 node HP_0012385 Camptodactyly null http://purl.obolibrary.org/obo/HP_0012385 node EFO_0009124 organ extraction null http://www.ebi.ac.uk/efo/EFO_0009124 node UBERON_2000627 posterior ceratohyal Posterohyal is used in Rapp Py Daniel (1997). http://purl.obolibrary.org/obo/UBERON_2000627 node EFO_0007965 response to combination chemotherapy null http://www.ebi.ac.uk/efo/EFO_0007965 node Orphanet_1677 Familial idiopathic dilatation of the right atrium null http://www.orpha.net/ORDO/Orphanet_1677 node CHEBI_67194 cannabinoid null http://purl.obolibrary.org/obo/CHEBI_67194 node EFO_0005935 overweight body mass index status null http://www.ebi.ac.uk/efo/EFO_0005935 node Orphanet_103907 Chronic diarrhea due to glucoamylase deficiency null http://www.orpha.net/ORDO/Orphanet_103907 node CHEBI_18185 gamma-tocopherol null http://purl.obolibrary.org/obo/CHEBI_18185 node EFO_1001198 substernal goiter null http://www.ebi.ac.uk/efo/EFO_1001198 node CL_0000956 pre-B-I cell Human pre-B-I cells are reportedly CD10-positive, CD19-positive, CD22-positive, CD38-positive, CD45-low, CD79a-positive, CD127-negative, pre-BCR-negative, IgM-negative, IgD-negative, and Tdt-positive. Transcription factors expressed: Pax5-positive. http://purl.obolibrary.org/obo/CL_0000956 node Orphanet_295014 Familial isolated clinodactyly of fingers null http://www.orpha.net/ORDO/Orphanet_295014 node EFO_0004085 DR1567 null http://www.ebi.ac.uk/efo/EFO_0004085 node Orphanet_231568 Generalized dominant dystrophic epidermolysis bullosa null http://www.orpha.net/ORDO/Orphanet_231568 node CHEBI_86387 3-methyladipate(2-) null http://purl.obolibrary.org/obo/CHEBI_86387 node Orphanet_357008 Atypical hemolytic-uremic syndrome with DGKE deficiency null http://www.orpha.net/ORDO/Orphanet_357008 node Orphanet_404571 Dysostosis of genetic origin with limb anomaly as a major feature null http://www.orpha.net/ORDO/Orphanet_404571 node Orphanet_370933 ST3GAL5-CDG null http://www.orpha.net/ORDO/Orphanet_370933 node EFO_0004808 L lactate dehydrogenase measurement null http://www.ebi.ac.uk/efo/EFO_0004808 node MONDO_0018087 viral hemorrhagic fever null http://purl.obolibrary.org/obo/MONDO_0018087 node GO_0006937 regulation of muscle contraction null http://purl.obolibrary.org/obo/GO_0006937 node Orphanet_140997 Orofaciodigital syndrome null http://www.orpha.net/ORDO/Orphanet_140997 node Orphanet_295237 Congenital patella dislocation, bilateral null http://www.orpha.net/ORDO/Orphanet_295237 node MONDO_0000845 fibrous dysplasia null http://purl.obolibrary.org/obo/MONDO_0000845 node CL_0002344 CD56-negative, CD161-positive immature natural killer cell, human Human markers; killer cell immunoglobulin-like receptor 2DL1 is used as a representative example (PRO at this time lacks a KIR superfamily). http://purl.obolibrary.org/obo/CL_0002344 node EFO_0004415 ionic salt null http://www.ebi.ac.uk/efo/EFO_0004415 node EFO_0000022 CS57583 null http://www.ebi.ac.uk/efo/EFO_0000022 node MONDO_0004812 acute dacryoadenitis null http://purl.obolibrary.org/obo/MONDO_0004812 node MONDO_0007462 multiple sclerosis, susceptibility to null http://purl.obolibrary.org/obo/MONDO_0007462 node EFO_0006720 OVCA420 null http://www.ebi.ac.uk/efo/EFO_0006720 node EFO_0004029 Drosophila simulans HW09 null http://www.ebi.ac.uk/efo/EFO_0004029 node Orphanet_178303 8q22.1 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_178303 node EFO_0009769 histidine measurement null http://www.ebi.ac.uk/efo/EFO_0009769 node MONDO_0016704 glial tumor of neuroepithelial tissue with unknown origin null http://purl.obolibrary.org/obo/MONDO_0016704 node MONDO_0023297 guttate psoriasis null http://purl.obolibrary.org/obo/MONDO_0023297 node Orphanet_684 Paramyotonia congenita of Von Eulenburg null http://www.orpha.net/ORDO/Orphanet_684 node CL_0002432 CD24-positive, CD4 single-positive thymocyte Described in the immgene database as being CD24-intermediate. http://purl.obolibrary.org/obo/CL_0002432 node UBERON_0000178 blood null http://purl.obolibrary.org/obo/UBERON_0000178 node EFO_0007788 BMI-adjusted waist-hip ratio null http://www.ebi.ac.uk/efo/EFO_0007788 node EFO_0004503 hematological measurement null http://www.ebi.ac.uk/efo/EFO_0004503 node EFO_0010050 thyroglobulin measurement null http://www.ebi.ac.uk/efo/EFO_0010050 node Orphanet_183444 Genetic porokeratosis null http://www.orpha.net/ORDO/Orphanet_183444 node MONDO_0021313 eyelid cancer null http://purl.obolibrary.org/obo/MONDO_0021313 node MONDO_0045054 cancer-related condition null http://purl.obolibrary.org/obo/MONDO_0045054 node Orphanet_308552 Glycogen storage disease due to acid maltase deficiency, infantile onset null http://www.orpha.net/ORDO/Orphanet_308552 node MONDO_0021136 rare null http://purl.obolibrary.org/obo/MONDO_0021136 node Orphanet_371157 Congenital disorder of glycosylation with hepatic involvement null http://www.orpha.net/ORDO/Orphanet_371157 node GO_0005790 smooth endoplasmic reticulum null http://purl.obolibrary.org/obo/GO_0005790 node EFO_0007257 eosinophilic pneumonia null http://www.ebi.ac.uk/efo/EFO_0007257 node EFO_0007876 insomnia measurement null http://www.ebi.ac.uk/efo/EFO_0007876 node MONDO_0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive null http://purl.obolibrary.org/obo/MONDO_0030069 node GO_0010876 lipid localization null http://purl.obolibrary.org/obo/GO_0010876 node EFO_0008028 apolipoprotein E isoform E2 measurement null http://www.ebi.ac.uk/efo/EFO_0008028 node Orphanet_101078 X-linked Charcot-Marie-Tooth disease type 4 null http://www.orpha.net/ORDO/Orphanet_101078 node MONDO_0021224 iris neoplasm null http://purl.obolibrary.org/obo/MONDO_0021224 node EFO_0000309 Burkitts lymphoma null http://www.ebi.ac.uk/efo/EFO_0000309 node UBERON_0002384 connective tissue null http://purl.obolibrary.org/obo/UBERON_0002384 node EFO_0002601 obsolete_proximal portion of anterior interventricular branch of left coronary artery null http://www.ebi.ac.uk/efo/EFO_0002601 node CHEBI_50370 parasympatholytic null http://purl.obolibrary.org/obo/CHEBI_50370 node Orphanet_90044 Familial pseudohyperkalemia null http://www.orpha.net/ORDO/Orphanet_90044 node Orphanet_2963 Progeroid syndrome, Petty type null http://www.orpha.net/ORDO/Orphanet_2963 node EFO_0008249 nidogen-1 measurement null http://www.ebi.ac.uk/efo/EFO_0008249 node MONDO_0024649 optic tract astrocytoma null http://purl.obolibrary.org/obo/MONDO_0024649 node MONDO_0015888 other rare diabetes mellitus Editor note: consider merging http://purl.obolibrary.org/obo/MONDO_0015888 node EFO_1000166 Cervical Intraepithelial Neoplasia Grade 2/3 null http://www.ebi.ac.uk/efo/EFO_1000166 node EFO_0003669 obsolete_facial ganglion null http://www.ebi.ac.uk/efo/EFO_0003669 node HP_0003508 Proportionate short stature null http://purl.obolibrary.org/obo/HP_0003508 node MONDO_0007533 elliptocytosis 2 null http://purl.obolibrary.org/obo/MONDO_0007533 node HP_0100759 Clubbing of fingers null http://purl.obolibrary.org/obo/HP_0100759 node Orphanet_3437 Vogt-Koyanagi-Harada disease null http://www.orpha.net/ORDO/Orphanet_3437 node Orphanet_101003 Autosomal recessive spastic paraplegia type 23 null http://www.orpha.net/ORDO/Orphanet_101003 node UBERON_0002472 stylopod null http://purl.obolibrary.org/obo/UBERON_0002472 node EFO_0005027 anti-Bcl11a null http://www.ebi.ac.uk/efo/EFO_0005027 node EFO_0009922 10x 3' v3 sequencing null http://www.ebi.ac.uk/efo/EFO_0009922 node EFO_1000868 chronic inflammatory demyelinating polyradiculoneuropathy null http://www.ebi.ac.uk/efo/EFO_1000868 node EFO_0008337 psychosis predisposition measurement null http://www.ebi.ac.uk/efo/EFO_0008337 node EFO_0008818 miTRAP null http://www.ebi.ac.uk/efo/EFO_0008818 node EFO_0001072 memory impairment null http://www.ebi.ac.uk/efo/EFO_0001072 node Orphanet_329324 Inverse Klippel-Trénaunay syndrome null http://www.orpha.net/ORDO/Orphanet_329324 node EFO_0003757 Asperger syndrome The name Aspergers is controversial, however, it seems to be the community accepted name. http://www.ebi.ac.uk/efo/EFO_0003757 node Orphanet_369 Glycogen storage disease due to liver glycogen phosphorylase deficiency null http://www.orpha.net/ORDO/Orphanet_369 node GO_1900135 positive regulation of renin secretion into blood stream null http://purl.obolibrary.org/obo/GO_1900135 node EFO_1000067 ACTH-Producing Pituitary Gland Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000067 node EFO_1000548 Splenic Hodgkin Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000548 node Orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts null http://www.orpha.net/ORDO/Orphanet_2478 node MONDO_0024338 mucinous neoplasm null http://purl.obolibrary.org/obo/MONDO_0024338 node EFO_1001873 AIDS phobia null http://www.ebi.ac.uk/efo/EFO_1001873 node EFO_1000956 hairy cell leukemia null http://www.ebi.ac.uk/efo/EFO_1000956 node UBERON_0001379 vastus lateralis null http://purl.obolibrary.org/obo/UBERON_0001379 node MONDO_0002304 protein S deficiency Editor note: TODO axiomatize http://purl.obolibrary.org/obo/MONDO_0002304 node EFO_0008425 IgG galactosylation measurement null http://www.ebi.ac.uk/efo/EFO_0008425 node Orphanet_93 Aspartylglucosaminuria null http://www.orpha.net/ORDO/Orphanet_93 node Orphanet_284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency null http://www.orpha.net/ORDO/Orphanet_284282 node EFO_0001160 GM12873 null http://www.ebi.ac.uk/efo/EFO_0001160 node EFO_1000769 steroid lipomatosis null http://www.ebi.ac.uk/efo/EFO_1000769 node EFO_0003815 nucleic acid hybridization to array protocol null http://www.ebi.ac.uk/efo/EFO_0003815 node EFO_1001108 pituitary apoplexy null http://www.ebi.ac.uk/efo/EFO_1001108 node Orphanet_1931 Frontal encephalocele null http://www.orpha.net/ORDO/Orphanet_1931 node MONDO_0013461 inosine triphosphatase deficiency null http://purl.obolibrary.org/obo/MONDO_0013461 node EFO_0005538 thrombin generation potential measurement null http://www.ebi.ac.uk/efo/EFO_0005538 node EFO_0010866 HG03095 null http://www.ebi.ac.uk/efo/EFO_0010866 node EFO_0002817 Caco-2/TC7 null http://www.ebi.ac.uk/efo/EFO_0002817 node CL_0000764 erythroid lineage cell Note that in FMA erythropoietic cells are types of nucleated erythrocytes and thus don't include erythrocytes. http://purl.obolibrary.org/obo/CL_0000764 node Orphanet_1064 Aniridia - renal agenesis - psychomotor retardation null http://www.orpha.net/ORDO/Orphanet_1064 node CHEBI_28864 tobramycin null http://purl.obolibrary.org/obo/CHEBI_28864 node Orphanet_3408 Upington disease null http://www.orpha.net/ORDO/Orphanet_3408 node EFO_1001480 metastatic colorectal cancer null http://www.ebi.ac.uk/efo/EFO_1001480 node Orphanet_295161 Polysyndactyly, bilateral null http://www.orpha.net/ORDO/Orphanet_295161 node EFO_1001961 intrahepatic cholangiocarcinoma null http://www.ebi.ac.uk/efo/EFO_1001961 node UBERON_0001467 shoulder null http://purl.obolibrary.org/obo/UBERON_0001467 node MONDO_0043768 thrombocytopenic purpura null http://purl.obolibrary.org/obo/MONDO_0043768 node EFO_1000376 Microcystic Meningioma null http://www.ebi.ac.uk/efo/EFO_1000376 node MONDO_0024239 congenital anomaly of cardiovascular system null http://purl.obolibrary.org/obo/MONDO_0024239 node Orphanet_289860 Infantile glycine encephalopathy null http://www.orpha.net/ORDO/Orphanet_289860 node HP_0011446 Abnormality of higher mental function null http://purl.obolibrary.org/obo/HP_0011446 node EFO_0003903 obsolete_Wiskott-Aldrich syndrome null http://www.ebi.ac.uk/efo/EFO_0003903 node EFO_0002424 fibroma null http://www.ebi.ac.uk/efo/EFO_0002424 node EFO_0000328 obsolete_cerebral cortex null http://www.ebi.ac.uk/efo/EFO_0000328 node EFO_1001094 penile neoplasm null http://www.ebi.ac.uk/efo/EFO_1001094 node HANCESTRO_0027 Han Chinese null http://purl.obolibrary.org/obo/HANCESTRO_0027 node EFO_1001009 kwashiorkor null http://www.ebi.ac.uk/efo/EFO_1001009 node CL_0000647 multinucleated giant cell Role or process: Chronic infection, granulomatous inflammation. Consider also megakaryocyte (CL:0000556) as sometimes multinucleated giant cell is used to refer to this. http://purl.obolibrary.org/obo/CL_0000647 node EFO_0002237 MJ null http://www.ebi.ac.uk/efo/EFO_0002237 node EFO_0005439 array control reporter size null http://www.ebi.ac.uk/efo/EFO_0005439 node EFO_0002718 hatching long-pec null http://www.ebi.ac.uk/efo/EFO_0002718 node EFO_0006972 Po-0 null http://www.ebi.ac.uk/efo/EFO_0006972 node MONDO_0004357 carcinoma of supraglottis null http://purl.obolibrary.org/obo/MONDO_0004357 node Orphanet_97685 17q11 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_97685 node NCBITaxon_12542 Omsk hemorrhagic fever virus null http://purl.obolibrary.org/obo/NCBITaxon_12542 node EFO_0009816 perineal laceration during delivery null http://www.ebi.ac.uk/efo/EFO_0009816 node Orphanet_300305 11p15.4 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_300305 node NCBITaxon_7220 Drosophila erecta null http://purl.obolibrary.org/obo/NCBITaxon_7220 node CHEBI_16243 quercetin null http://purl.obolibrary.org/obo/CHEBI_16243 node EFO_1000301 Inclusion Body Fibromatosis null http://www.ebi.ac.uk/efo/EFO_1000301 node EFO_0009126 leukapheresis null http://www.ebi.ac.uk/efo/EFO_0009126 node ZFA_0000023 forerunner cell group null http://purl.obolibrary.org/obo/ZFA_0000023 node EFO_0005046 cutaneous Leishmaniasis null http://www.ebi.ac.uk/efo/EFO_0005046 node EFO_0002325 SCaBER null http://www.ebi.ac.uk/efo/EFO_0002325 node Orphanet_75325 Osteosclerosis - ichthyosis - premature ovarian failure null http://www.orpha.net/ORDO/Orphanet_75325 node HP_0000005 Mode of inheritance null http://purl.obolibrary.org/obo/HP_0000005 node UBERON_0005281 ventricular system of central nervous system null http://purl.obolibrary.org/obo/UBERON_0005281 node UBERON_0005579 rhombomere 5 floor plate null http://purl.obolibrary.org/obo/UBERON_0005579 node CHEBI_64202 methiothepin maleate null http://purl.obolibrary.org/obo/CHEBI_64202 node EFO_0004106 obsolete_seq instrument model null http://www.ebi.ac.uk/efo/EFO_0004106 node UBERON_0003120 pharyngeal arch artery 3 null http://purl.obolibrary.org/obo/UBERON_0003120 node EFO_0007914 openness measurement null http://www.ebi.ac.uk/efo/EFO_0007914 node CHEBI_27432 alpha-linolenic acid null http://purl.obolibrary.org/obo/CHEBI_27432 node Orphanet_79276 Acute intermittent porphyria null http://www.orpha.net/ORDO/Orphanet_79276 node MONDO_0002490 breast sarcoma null http://purl.obolibrary.org/obo/MONDO_0002490 node Orphanet_2228 Hypodontia - dysplasia of nails null http://www.orpha.net/ORDO/Orphanet_2228 node EFO_0007040 blood lead measurement null http://www.ebi.ac.uk/efo/EFO_0007040 node Orphanet_99845 Genetic recurrent myoglobinuria null http://www.orpha.net/ORDO/Orphanet_99845 node EFO_0008742 obsolete_FISSEQ null http://www.ebi.ac.uk/efo/EFO_0008742 node MONDO_0002468 hyperimmunoglobulin syndrome null http://purl.obolibrary.org/obo/MONDO_0002468 node Orphanet_79364 Alopecia null http://www.orpha.net/ORDO/Orphanet_79364 node EFO_0001251 TERV-ST null http://www.ebi.ac.uk/efo/EFO_0001251 node UBERON_6005831 dorsal imaginal precursor null http://purl.obolibrary.org/obo/UBERON_6005831 node Orphanet_98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency null http://www.orpha.net/ORDO/Orphanet_98886 node EFO_1000880 corneal neovascularization null http://www.ebi.ac.uk/efo/EFO_1000880 node EFO_0000995 gall tissue null http://www.ebi.ac.uk/efo/EFO_0000995 node Orphanet_2451 Mucocutaneous venous malformations null http://www.orpha.net/ORDO/Orphanet_2451 node GO_0061476 response to anticoagulant null http://purl.obolibrary.org/obo/GO_0061476 node EFO_0008830 NOME-Seq null http://www.ebi.ac.uk/efo/EFO_0008830 node CHEBI_32360 arachidate null http://purl.obolibrary.org/obo/CHEBI_32360 node MONDO_0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures null http://purl.obolibrary.org/obo/MONDO_0000209 node Orphanet_391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome null http://www.orpha.net/ORDO/Orphanet_391376 node CHEBI_48432 angiotensin II null http://purl.obolibrary.org/obo/CHEBI_48432 node Orphanet_255182 Pyruvate dehydrogenase E3-binding protein deficiency null http://www.orpha.net/ORDO/Orphanet_255182 node Orphanet_79452 Milroy disease null http://www.orpha.net/ORDO/Orphanet_79452 node NCBITaxon_113636 Populus tremula null http://purl.obolibrary.org/obo/NCBITaxon_113636 node EFO_0008594 very low density lipoprotein particle size measurement null http://www.ebi.ac.uk/efo/EFO_0008594 node CHEBI_143616 sphingomyelin 16:1 null http://purl.obolibrary.org/obo/CHEBI_143616 node Orphanet_79102 Thyrotoxic periodic paralysis null http://www.orpha.net/ORDO/Orphanet_79102 node Orphanet_391641 Feingold syndrome type 1 null http://www.orpha.net/ORDO/Orphanet_391641 node Orphanet_280633 Multiple congenital anomalies - hypotonia - seizures syndrome null http://www.orpha.net/ORDO/Orphanet_280633 node Orphanet_2334 Autosomal dominant keratitis null http://www.orpha.net/ORDO/Orphanet_2334 node NCBITaxon_43989 Cyanothece sp. ATCC 51142 null http://purl.obolibrary.org/obo/NCBITaxon_43989 node MONDO_0019956 encephalitis Editor note: consider merging with brain inflammation http://purl.obolibrary.org/obo/MONDO_0019956 node EFO_0002992 ILSXISS79/TejJ null http://www.ebi.ac.uk/efo/EFO_0002992 node Orphanet_5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_5 node EFO_0003834 cutaneous lupus erythematosus null http://www.ebi.ac.uk/efo/EFO_0003834 node EFO_0007737 BMI-adjusted adiponectin measurement null http://www.ebi.ac.uk/efo/EFO_0007737 node Orphanet_446 Neonatal hemochromatosis null http://www.orpha.net/ORDO/Orphanet_446 node CLO_0031226 GM14409 null http://purl.obolibrary.org/obo/CLO_0031226 node EFO_0008682 ChEC-seq null http://www.ebi.ac.uk/efo/EFO_0008682 node EFO_0007111 iPS-5 null http://www.ebi.ac.uk/efo/EFO_0007111 node HP_0004367 obsolete Abnormality of glycoprotein metabolism null http://purl.obolibrary.org/obo/HP_0004367 node MONDO_0024620 meningitis caused by poliovirus null http://purl.obolibrary.org/obo/MONDO_0024620 node CL_0002123 B220-low CD38-positive IgG-negative class switched memory B cell null http://purl.obolibrary.org/obo/CL_0002123 node Orphanet_98600 Eyebrow/eyelashes distichiasis null http://www.orpha.net/ORDO/Orphanet_98600 node NCBITaxon_10114 Rattus null http://purl.obolibrary.org/obo/NCBITaxon_10114 node CL_0001019 CD115-positive monocyte OR common dendritic progenitor Originally described in the dendritic cell ontology (DC_CL:1111000)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001019 node CHEBI_63942 ferrozine monosodium salt null http://purl.obolibrary.org/obo/CHEBI_63942 node Orphanet_169147 Immunodeficiency due to an early component of complement deficiency null http://www.orpha.net/ORDO/Orphanet_169147 node EFO_0010440 triacylglycerol 58:6 measurement null http://www.ebi.ac.uk/efo/EFO_0010440 node NCBITaxon_220664 Pseudomonas fluorescens Pf-5 null http://purl.obolibrary.org/obo/NCBITaxon_220664 node NCBITaxon_1765 Mycobacterium bovis null http://purl.obolibrary.org/obo/NCBITaxon_1765 node EFO_0003922 menopause null http://www.ebi.ac.uk/efo/EFO_0003922 node EFO_0007825 balding measurement null http://www.ebi.ac.uk/efo/EFO_0007825 node Orphanet_534 Oculocerebrorenal syndrome null http://www.orpha.net/ORDO/Orphanet_534 node NCBITaxon_1578 Lactobacillus null http://purl.obolibrary.org/obo/NCBITaxon_1578 node Orphanet_2643 Microcephalic primordial dwarfism, Toriello type null http://www.orpha.net/ORDO/Orphanet_2643 node EFO_0007638 Yu-Zhi constitution type null http://www.ebi.ac.uk/efo/EFO_0007638 node GO_0005856 cytoskeleton null http://purl.obolibrary.org/obo/GO_0005856 node MONDO_0024503 digestive system neuroendocrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0024503 node UBERON_0004746 prootic bone null http://purl.obolibrary.org/obo/UBERON_0004746 node Orphanet_755 Leydig cell hypoplasia null http://www.orpha.net/ORDO/Orphanet_755 node UBERON_0002333 pulmonary trunk null http://purl.obolibrary.org/obo/UBERON_0002333 node EFO_1000431 Ovarian Small Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000431 node EFO_0001074 morbid obesity null http://www.ebi.ac.uk/efo/EFO_0001074 node EFO_0000490 extraction protocol null http://www.ebi.ac.uk/efo/EFO_0000490 node EFO_0004861 phosphorus measurement null http://www.ebi.ac.uk/efo/EFO_0004861 node Orphanet_300293 Transient infantile hypertriglyceridemia and hepatosteatosis null http://www.orpha.net/ORDO/Orphanet_300293 node Orphanet_141 Canavan disease null http://www.orpha.net/ORDO/Orphanet_141 node EFO_1001171 sebaceous adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1001171 node CLO_0013124 GM17296 null http://purl.obolibrary.org/obo/CLO_0013124 node EFO_0009419 CX3CL1 measurement null http://www.ebi.ac.uk/efo/EFO_0009419 node EFO_1001499 histiocytic medullary reticulosis null http://www.ebi.ac.uk/efo/EFO_1001499 node EFO_1000409 Ossifying Renal Tumor of Infancy null http://www.ebi.ac.uk/efo/EFO_1000409 node UBERON_0007329 pancreatic duct null http://purl.obolibrary.org/obo/UBERON_0007329 node EFO_0004358 event-related brain oscillation null http://www.ebi.ac.uk/efo/EFO_0004358 node UBERON_0002421 hippocampal formation null http://purl.obolibrary.org/obo/UBERON_0002421 node Orphanet_93937 Terminal transverse defects of arm null http://www.orpha.net/ORDO/Orphanet_93937 node EFO_0001162 GM12875 null http://www.ebi.ac.uk/efo/EFO_0001162 node MONDO_0004804 dacryoadenitis null http://purl.obolibrary.org/obo/MONDO_0004804 node NCBITaxon_4573 Aegilops speltoides null http://purl.obolibrary.org/obo/NCBITaxon_4573 node Orphanet_95702 Cytomegalic congenital adrenal hypoplasia null http://www.orpha.net/ORDO/Orphanet_95702 node EFO_0004762 vascular endothelial growth factor measurement null http://www.ebi.ac.uk/efo/EFO_0004762 node Orphanet_3128 Sakati-Nyhan syndrome null http://www.orpha.net/ORDO/Orphanet_3128 node MONDO_0001212 non-suppurative otitis media null http://purl.obolibrary.org/obo/MONDO_0001212 node EFO_0009507 knee injury null http://www.ebi.ac.uk/efo/EFO_0009507 node UBERON_0001059 pars intercerebralis will be ceded to arthropod anatomy ontology http://purl.obolibrary.org/obo/UBERON_0001059 node EFO_1000016 anaplastic lung carcinoma null http://www.ebi.ac.uk/efo/EFO_1000016 node HP_0002442 Dyscalculia null http://purl.obolibrary.org/obo/HP_0002442 node EFO_0003120 NCI-H2279 null http://www.ebi.ac.uk/efo/EFO_0003120 node EFO_0004446 biological macromolecule null http://www.ebi.ac.uk/efo/EFO_0004446 node EFO_0003519 obsolete_subopercle null http://www.ebi.ac.uk/efo/EFO_0003519 node HP_0030114 Absent muscle fiber dysferlin null http://purl.obolibrary.org/obo/HP_0030114 node NCBITaxon_5599 Alternaria alternata null http://purl.obolibrary.org/obo/NCBITaxon_5599 node Philippines Philippines null http://dbpedia.org/resource/Philippines node Orphanet_1562 Dacryocystitis - osteopoikilosis null http://www.orpha.net/ORDO/Orphanet_1562 node EFO_1001822 Paroxysmal Hemicrania null http://www.ebi.ac.uk/efo/EFO_1001822 node Orphanet_98594 Rare eyebrow/eyelashes anomaly null http://www.orpha.net/ORDO/Orphanet_98594 node EFO_0006751 SIG-M5 null http://www.ebi.ac.uk/efo/EFO_0006751 node Orphanet_228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N null http://www.orpha.net/ORDO/Orphanet_228174 node GO_0036270 response to diuretic null http://purl.obolibrary.org/obo/GO_0036270 node EFO_1000718 irritant dermatitis null http://www.ebi.ac.uk/efo/EFO_1000718 node PO_0004506 developing seed stage null http://purl.obolibrary.org/obo/PO_0004506 node EFO_0006564 DOK null http://www.ebi.ac.uk/efo/EFO_0006564 node EFO_0010815 remnant cholesterol measurement null http://www.ebi.ac.uk/efo/EFO_0010815 node EFO_0010263 gastrointestinal ulceration, recurrent, with dysfunctional platelets null http://www.ebi.ac.uk/efo/EFO_0010263 node EFO_0000087 CS57752 null http://www.ebi.ac.uk/efo/EFO_0000087 node EFO_1000104 Bartholin Gland Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000104 node EFO_0010744 testis size null http://www.ebi.ac.uk/efo/EFO_0010744 node HP_0030082 Abnormal drinking behavior Note that this HPO term refers to an abnormal habit of drinking fluids but does not directly refer to an psychological disorder. http://purl.obolibrary.org/obo/HP_0030082 node EFO_0010557 lactose tolerance test null http://www.ebi.ac.uk/efo/EFO_0010557 node Orphanet_98682 Essential strabismus null http://www.orpha.net/ORDO/Orphanet_98682 node EFO_1001910 pulmonary amyloidosis null http://www.ebi.ac.uk/efo/EFO_1001910 node EFO_0004932 N0 lymph node stage null http://www.ebi.ac.uk/efo/EFO_0004932 node Orphanet_98495 Genetic neuromuscular junction disease null http://www.orpha.net/ORDO/Orphanet_98495 node MONDO_0004192 urethra cancer null http://purl.obolibrary.org/obo/MONDO_0004192 node MONDO_0012880 hypogonadotropic hypogonadism 5 with or without anosmia null http://purl.obolibrary.org/obo/MONDO_0012880 node NCBITaxon_5061 Aspergillus niger null http://purl.obolibrary.org/obo/NCBITaxon_5061 node BFO_0000023 role null http://purl.obolibrary.org/obo/BFO_0000023 node EFO_0006652 MOLM-16 null http://www.ebi.ac.uk/efo/EFO_0006652 node Orphanet_309324 Free sialic acid storage disease, infantile form null http://www.orpha.net/ORDO/Orphanet_309324 node EFO_0010351 cholesteryl ester measurement null http://www.ebi.ac.uk/efo/EFO_0010351 node EFO_0006499 U-2932 null http://www.ebi.ac.uk/efo/EFO_0006499 node EFO_0000175 FUM1 null http://www.ebi.ac.uk/efo/EFO_0000175 node EFO_0010164 insulin-resistant diabetes mellitus null http://www.ebi.ac.uk/efo/EFO_0010164 node MONDO_0008638 varicose disease null http://purl.obolibrary.org/obo/MONDO_0008638 node EFO_0010645 Cardiac-urogenital syndrome null http://www.ebi.ac.uk/efo/EFO_0010645 node CL_0000062 osteoblast non-encoded relationships from VSAO - capable_of_producing VSAO:0000020 http://purl.obolibrary.org/obo/CL_0000062 node Orphanet_1533 Craniosynostosis - fibular aplasia null http://www.orpha.net/ORDO/Orphanet_1533 node NCBITaxon_6551 Mytilus trossulus null http://purl.obolibrary.org/obo/NCBITaxon_6551 node Orphanet_75508 Angioosteohypotrophic syndrome null http://www.orpha.net/ORDO/Orphanet_75508 node HP_0000978 Bruising susceptibility An ecchymosis is defined as being larger than 1 cm in size. http://purl.obolibrary.org/obo/HP_0000978 node EFO_0001656 dorsal null http://www.ebi.ac.uk/efo/EFO_0001656 node UBERON_0005363 inferior vagus X ganglion null http://purl.obolibrary.org/obo/UBERON_0005363 node Orphanet_183628 Rare genetic hypothalamic or pituitary disease null http://www.orpha.net/ORDO/Orphanet_183628 node PO_0007045 coleoptile emergence stage null http://purl.obolibrary.org/obo/PO_0007045 node EFO_0008545 Malignant Breast Phyllodes Tumor null http://www.ebi.ac.uk/efo/EFO_0008545 node Orphanet_254 Spondylometaphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_254 node CHEBI_38593 fenazaquin null http://purl.obolibrary.org/obo/CHEBI_38593 node MONDO_0002247 factor X deficiency null http://purl.obolibrary.org/obo/MONDO_0002247 node EFO_0008368 infant grey matter volume measurement null http://www.ebi.ac.uk/efo/EFO_0008368 node EFO_0001744 cell cycle design null http://www.ebi.ac.uk/efo/EFO_0001744 node MONDO_0013083 neuroblastoma, susceptibility to, 3 null http://purl.obolibrary.org/obo/MONDO_0013083 node NCBITaxon_5911 Tetrahymena thermophila null http://purl.obolibrary.org/obo/NCBITaxon_5911 node EO_0007068 ethylene treatment null http://purl.obolibrary.org/obo/EO_0007068 node MONDO_0020599 acquired coagulation factor deficiency null http://purl.obolibrary.org/obo/MONDO_0020599 node GO_0007568 aging null http://purl.obolibrary.org/obo/GO_0007568 node Orphanet_79507 Hypotonia - failure to thrive - microcephaly null http://www.orpha.net/ORDO/Orphanet_79507 node MONDO_0002721 necrosis of pituitary null http://purl.obolibrary.org/obo/MONDO_0002721 node PO_0009031 sepal One of the modified leaves comprising a calyx. http://purl.obolibrary.org/obo/PO_0009031 node CHEBI_35544 cyclooxygenase inhibitor null http://purl.obolibrary.org/obo/CHEBI_35544 node EFO_1000496 Prolactin-Producing Pituitary Gland Adenoma null http://www.ebi.ac.uk/efo/EFO_1000496 node GO_0042025 host cell nucleus null http://purl.obolibrary.org/obo/GO_0042025 node EFO_0002683 floral transition null http://www.ebi.ac.uk/efo/EFO_0002683 node Orphanet_34149 Autosomal dominant medullary cystic kidney disease with or without hyperuricemia null http://www.orpha.net/ORDO/Orphanet_34149 node Orphanet_342 Familial Mediterranean fever null http://www.orpha.net/ORDO/Orphanet_342 node Orphanet_93436 Acromelic dysplasia null http://www.orpha.net/ORDO/Orphanet_93436 node Orphanet_363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia null http://www.orpha.net/ORDO/Orphanet_363677 node HP_0000363 Abnormality of earlobe null http://purl.obolibrary.org/obo/HP_0000363 node MONDO_0019033 primary cutis verticis gyrata null http://purl.obolibrary.org/obo/MONDO_0019033 node NCBITaxon_156230 Karenia brevis null http://purl.obolibrary.org/obo/NCBITaxon_156230 node UBERON_0001906 subthalamic nucleus null http://purl.obolibrary.org/obo/UBERON_0001906 node MONDO_0003660 adult lymphoma null http://purl.obolibrary.org/obo/MONDO_0003660 node MONDO_0020687 supratentorial ependymal tumor null http://purl.obolibrary.org/obo/MONDO_0020687 node MONDO_0024311 cancer affecting bone of limb skeleton null http://purl.obolibrary.org/obo/MONDO_0024311 node Orphanet_309147 Hyper-beta-alaninemia null http://www.orpha.net/ORDO/Orphanet_309147 node UBERON_0001729 oropharynx null http://purl.obolibrary.org/obo/UBERON_0001729 node UBERON_0001811 conjunctiva null http://purl.obolibrary.org/obo/UBERON_0001811 node Orphanet_141327 Orofaciodigital syndrome type 12 null http://www.orpha.net/ORDO/Orphanet_141327 node GO_1901657 glycosyl compound metabolic process null http://purl.obolibrary.org/obo/GO_1901657 node EFO_0008057 C-X-C motif chemokine 11 measurement null http://www.ebi.ac.uk/efo/EFO_0008057 node EFO_1000584 Thymoma Type B1 null http://www.ebi.ac.uk/efo/EFO_1000584 node NCBITaxon_203119 Clostridium thermocellum ATCC 27405 null http://purl.obolibrary.org/obo/NCBITaxon_203119 node Orphanet_63440 Isolated oxycephaly null http://www.orpha.net/ORDO/Orphanet_63440 node EFO_0001200 MCF 10A null http://www.ebi.ac.uk/efo/EFO_0001200 node Orphanet_225 Maternally-inherited diabetes and deafness null http://www.orpha.net/ORDO/Orphanet_225 node Orphanet_139393 Syndromic craniosynostosis null http://www.orpha.net/ORDO/Orphanet_139393 node EFO_0007329 interdigitating dendritic cell sarcoma null http://www.ebi.ac.uk/efo/EFO_0007329 node EFO_0003370 posterior midgut proper primordium null http://www.ebi.ac.uk/efo/EFO_0003370 node Orphanet_3098 Rhizomelic syndrome, Urbach type null http://www.orpha.net/ORDO/Orphanet_3098 node EFO_0002268 NCI-H1838 null http://www.ebi.ac.uk/efo/EFO_0002268 node EFO_0007300 Henipavirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007300 node EFO_0007113 ML-DmD23 null http://www.ebi.ac.uk/efo/EFO_0007113 node NCBITaxon_103351 Vitis amurensis null http://purl.obolibrary.org/obo/NCBITaxon_103351 node EFO_0009470 soft tissue disease null http://www.ebi.ac.uk/efo/EFO_0009470 node Orphanet_93612 Cystinuria type A null http://www.orpha.net/ORDO/Orphanet_93612 node EFO_0007417 paracoccidioidomycosis null http://www.ebi.ac.uk/efo/EFO_0007417 node CL_0000948 IgE memory B cell null http://purl.obolibrary.org/obo/CL_0000948 node Orphanet_3186 Holoprosencephaly - radial heart renal anomalies null http://www.orpha.net/ORDO/Orphanet_3186 node EFO_0002356 SUDHL5 null http://www.ebi.ac.uk/efo/EFO_0002356 node NCBITaxon_45351 Nematostella vectensis null http://purl.obolibrary.org/obo/NCBITaxon_45351 node MONDO_0018652 biological anomaly without phenotypic characterization null http://purl.obolibrary.org/obo/MONDO_0018652 node EFO_0003681 obsolete_apical ectodermal ridge pelvic fin bud null http://www.ebi.ac.uk/efo/EFO_0003681 node EFO_0007201 cerebral ventricle cancer null http://www.ebi.ac.uk/efo/EFO_0007201 node EFO_0002577 liver endoderm null http://www.ebi.ac.uk/efo/EFO_0002577 node Orphanet_276525 Familial hyperinsulinism null http://www.orpha.net/ORDO/Orphanet_276525 node CLO_0013994 GM17164 null http://purl.obolibrary.org/obo/CLO_0013994 node EFO_0009371 ketogenic diet null http://www.ebi.ac.uk/efo/EFO_0009371 node EFO_0004137 obsolete_epidermolytic hyperkeratosis null http://www.ebi.ac.uk/efo/EFO_0004137 node Orphanet_308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form null http://www.orpha.net/ORDO/Orphanet_308621 node EFO_0000832 obsolete_retina structure null http://www.ebi.ac.uk/efo/EFO_0000832 node Orphanet_2076 X-linked intellectual disability - epilepsy null http://www.orpha.net/ORDO/Orphanet_2076 node MONDO_0003603 non-functioning pituitary gland neoplasm null http://purl.obolibrary.org/obo/MONDO_0003603 node EFO_0006969 San Feliu ecotype null http://www.ebi.ac.uk/efo/EFO_0006969 node EFO_0000645 obsolete_percent oxygen null http://www.ebi.ac.uk/efo/EFO_0000645 node CHEBI_35455 1-naphthyl isothiocyanate null http://purl.obolibrary.org/obo/CHEBI_35455 node EFO_0000031 CS57606 null http://www.ebi.ac.uk/efo/EFO_0000031 node EFO_0001023 obsolete_bud null http://www.ebi.ac.uk/efo/EFO_0001023 node MONDO_0100172 intellectual disability, autosomal dominant null http://purl.obolibrary.org/obo/MONDO_0100172 node CHEBI_85726 triacylglycerol 48:1 null http://purl.obolibrary.org/obo/CHEBI_85726 node EFO_0005164 Calver ecotype null http://www.ebi.ac.uk/efo/EFO_0005164 node Orphanet_168566 Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 null http://www.orpha.net/ORDO/Orphanet_168566 node Orphanet_306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome null http://www.orpha.net/ORDO/Orphanet_306558 node EFO_1001120 potassium deficiency null http://www.ebi.ac.uk/efo/EFO_1001120 node EFO_0004038 mouse embryonic stem cell null http://www.ebi.ac.uk/efo/EFO_0004038 node MONDO_0021191 malignant ependymoma null http://purl.obolibrary.org/obo/MONDO_0021191 node Orphanet_85163 Hypomyelination - congenital cataract null http://www.orpha.net/ORDO/Orphanet_85163 node EFO_0004623 fibrinogen measurement null http://www.ebi.ac.uk/efo/EFO_0004623 node Orphanet_206549 Autosomal recessive limb-girdle muscular dystrophy type 2L null http://www.orpha.net/ORDO/Orphanet_206549 node EFO_0000733 obsolete_virus strain null http://www.ebi.ac.uk/efo/EFO_0000733 node CL_0002601 uterine smooth muscle cell null http://purl.obolibrary.org/obo/CL_0002601 node Orphanet_1154 Arthrogryposis with oculomotor limitation and electroretinal anomalies null http://www.orpha.net/ORDO/Orphanet_1154 node UO_0000099 liter null http://purl.obolibrary.org/obo/UO_0000099 node HP_0007777 Chorioretinal scar null http://purl.obolibrary.org/obo/HP_0007777 node Orphanet_96333 Rare otorhinolaryngological malformation null http://www.orpha.net/ORDO/Orphanet_96333 node MONDO_0060457 autoinflammation with arthritis and dyskeratosis null http://purl.obolibrary.org/obo/MONDO_0060457 node EFO_0001111 GM07022 null http://www.ebi.ac.uk/efo/EFO_0001111 node EFO_0005252 orthostatic hypotension null http://www.ebi.ac.uk/efo/EFO_0005252 node UBERON_0005523 rhombomere 7 null http://purl.obolibrary.org/obo/UBERON_0005523 node NCBITaxon_33968 Leuconostoc pseudomesenteroides null http://purl.obolibrary.org/obo/NCBITaxon_33968 node EFO_0007996 eosinophil percentage of granulocytes null http://www.ebi.ac.uk/efo/EFO_0007996 node EFO_0005075 spotted colony reporter null http://www.ebi.ac.uk/efo/EFO_0005075 node EFO_0000340 obsolete_chronic myeloid leukemia Obsolete: Duplication: use EFO_0000339 instead http://www.ebi.ac.uk/efo/EFO_0000340 node CLO_0016492 GM17801 null http://purl.obolibrary.org/obo/CLO_0016492 node EFO_0004711 elephantiasis null http://www.ebi.ac.uk/efo/EFO_0004711 node Orphanet_178400 Distal myopathy with anterior tibial onset null http://www.orpha.net/ORDO/Orphanet_178400 node EFO_1001021 Listeria meningitis null http://www.ebi.ac.uk/efo/EFO_1001021 node HP_0001773 Short foot null http://purl.obolibrary.org/obo/HP_0001773 node UO_0000187 percent null http://purl.obolibrary.org/obo/UO_0000187 node EFO_0005451 SF268 null http://www.ebi.ac.uk/efo/EFO_0005451 node EFO_0010418 triacylglycerol 52:6 measurement null http://www.ebi.ac.uk/efo/EFO_0010418 node GO_0030155 regulation of cell adhesion null http://purl.obolibrary.org/obo/GO_0030155 node CHEBI_17741 N,N-dimethylformamide null http://purl.obolibrary.org/obo/CHEBI_17741 node Orphanet_324321 Sinoatrial node dysfunction and deafness null http://www.orpha.net/ORDO/Orphanet_324321 node MONDO_0000631 bone benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0000631 node EFO_0008926 SITE-Seq null http://www.ebi.ac.uk/efo/EFO_0008926 node CHEBI_47499 imipramine null http://purl.obolibrary.org/obo/CHEBI_47499 node Orphanet_2768 Blount disease null http://www.orpha.net/ORDO/Orphanet_2768 node EFO_0007302 hepatic tuberculosis null http://www.ebi.ac.uk/efo/EFO_0007302 node EFO_0010506 kynurenic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010506 node HP_0004398 Peptic ulcer A peptic ulcer is defined as an erosion of the mucosa of the gastrointestinal tract, and can occur as esophageal ulcer, gastric ulcer, duodenal ulcer, and Meckel's Diverticulum ulcer. http://purl.obolibrary.org/obo/HP_0004398 node Orphanet_79403 Junctional epidermolysis bullosa - pyloric atresia null http://www.orpha.net/ORDO/Orphanet_79403 node EFO_0010329 superior frontal gyrus volume measurement null http://www.ebi.ac.uk/efo/EFO_0010329 node EFO_0001192 HS578T null http://www.ebi.ac.uk/efo/EFO_0001192 node EFO_0007710 cognitive decline measurement null http://www.ebi.ac.uk/efo/EFO_0007710 node Orphanet_100015 Lissencephaly with cerebellar hypoplasia type E null http://www.orpha.net/ORDO/Orphanet_100015 node EFO_1000877 complex partial epilepsy null http://www.ebi.ac.uk/efo/EFO_1000877 node HP_0000768 Pectus carinatum null http://purl.obolibrary.org/obo/HP_0000768 node Orphanet_2856 Persistent Müllerian duct syndrome null http://www.orpha.net/ORDO/Orphanet_2856 node UBERON_0001891 midbrain null http://purl.obolibrary.org/obo/UBERON_0001891 node EFO_0010113 3-hydroxybutyric acid measurement null http://www.ebi.ac.uk/efo/EFO_0010113 node EFO_0007292 Guillain-Barre syndrome null http://www.ebi.ac.uk/efo/EFO_0007292 node UBERON_0006841 central vein of liver null http://purl.obolibrary.org/obo/UBERON_0006841 node CL_0002424 DN2b thymocyte Observed in mice. http://purl.obolibrary.org/obo/CL_0002424 node Orphanet_329284 Beta-propeller protein-associated neurodegeneration null http://www.orpha.net/ORDO/Orphanet_329284 node MONDO_0004582 rheumatic myocarditis null http://purl.obolibrary.org/obo/MONDO_0004582 node EFO_0001280 blastula high null http://www.ebi.ac.uk/efo/EFO_0001280 node EFO_1000965 Henoch-Schoenlein purpura null http://www.ebi.ac.uk/efo/EFO_1000965 node UBERON_0001388 gastrocnemius null http://purl.obolibrary.org/obo/UBERON_0001388 node MONDO_0016474 drug-induced lupus erythematosus null http://purl.obolibrary.org/obo/MONDO_0016474 node Orphanet_93929 Cloacal exstrophy null http://www.orpha.net/ORDO/Orphanet_93929 node EFO_0002989 ILSXISS56/TejJ null http://www.ebi.ac.uk/efo/EFO_0002989 node Orphanet_648 Noonan syndrome null http://www.orpha.net/ORDO/Orphanet_648 node Orphanet_294979 Congenital absence of both forearm and hand null http://www.orpha.net/ORDO/Orphanet_294979 node FBbt_00001685 plasmatocyte Brehelin and Zachary (1986) state that they never observe granular inclusions in plasmatocytes. Sometimes a few primary lysosomes as well as rare multivesicular bodies are visible, but these lysosomes are never 'condensed' into electron-dense granules. Together, this suggests that the synonym of 'granulocytes' is erroneous. The term podocyte refers to a plasmatocyte that extends long cytoplasmic extensions. They are no longer recognized as a distinct cell type (Michelle Crozatier, personal communication). http://purl.obolibrary.org/obo/FBbt_00001685 node EFO_0007380 mucormycosis null http://www.ebi.ac.uk/efo/EFO_0007380 node EFO_0002826 KS-IMM null http://www.ebi.ac.uk/efo/EFO_0002826 node HP_0003065 Patellar hypoplasia null http://purl.obolibrary.org/obo/HP_0003065 node EFO_0008222 macrophage scavenger receptor types I and II measurement null http://www.ebi.ac.uk/efo/EFO_0008222 node EFO_0007193 carbamoyl phosphate synthetase I deficiency disease null http://www.ebi.ac.uk/efo/EFO_0007193 node Orphanet_371188 Congenital disorder of glycosylation with intestinal involvement null http://www.orpha.net/ORDO/Orphanet_371188 node UBERON_0001476 deltoid We use a generic definition that includes the deltoideus as represented in AAO: 'Muscle which originates as three heads, the pars externalis, pars clavicularis, and pars scapularis. The pars externalis originates from the lateral border of the omosternum and inserts on the distal portion of the humerus. The pars clavicularis originates from the ventro-lateral surface of the clavicle and inserts on the deltoid crest of the humerus. The pars scapularis originates from the lateral surface of the clavicle and inserts on the deltoid crest of the humerus'. Kardong: Dorsal group http://purl.obolibrary.org/obo/UBERON_0001476 node MONDO_0009709 myopathy, centronuclear, 2 null http://purl.obolibrary.org/obo/MONDO_0009709 node Orphanet_3450 Weissenbacher- Zweymuller syndrome null http://www.orpha.net/ORDO/Orphanet_3450 node MONDO_0016375 acquired peripheral movement disorder null http://purl.obolibrary.org/obo/MONDO_0016375 node EFO_0002433 cumulus-oocyte complex null http://www.ebi.ac.uk/efo/EFO_0002433 node EFO_0002914 uterine sarcoma null http://www.ebi.ac.uk/efo/EFO_0002914 node HP_0001065 Striae distensae null http://purl.obolibrary.org/obo/HP_0001065 node HP_0001684 Secundum atrial septal defect null http://purl.obolibrary.org/obo/HP_0001684 node Orphanet_939 3-hydroxyisobutyric aciduria null http://www.orpha.net/ORDO/Orphanet_939 node Orphanet_1824 Lowry-Wood syndrome null http://www.orpha.net/ORDO/Orphanet_1824 node HP_0010865 Oppositional defiant disorder Oppositional defiant disorder is basically a persistent pattern of tantrums, arguing, and angry or disruptive behavior that goes beyond what can be considered normal. http://purl.obolibrary.org/obo/HP_0010865 node Orphanet_206959 Muscular glycogenosis null http://www.orpha.net/ORDO/Orphanet_206959 node Orphanet_295241 Macrodactyly of fingers, bilateral null http://www.orpha.net/ORDO/Orphanet_295241 node CHEBI_49747 methylmercury null http://purl.obolibrary.org/obo/CHEBI_49747 node MONDO_0003206 acquired hemangioma null http://purl.obolibrary.org/obo/MONDO_0003206 node EFO_0005785 blastoma null http://www.ebi.ac.uk/efo/EFO_0005785 node EFO_0003372 obsolete_visual primordium null http://www.ebi.ac.uk/efo/EFO_0003372 node EFO_0009808 immunosurgery null http://www.ebi.ac.uk/efo/EFO_0009808 node HP_0007750 Hypoplasia of the fovea A dull foveal reflex is an unusual reflex of the foveal region on fundoscopy that may indicate hypoplasia of the fovea. http://purl.obolibrary.org/obo/HP_0007750 node Orphanet_181441 Rare disorder with hypergonadotropic hypogonadism null http://www.orpha.net/ORDO/Orphanet_181441 node EFO_0002521 obsolete_cerebral hemisphere null http://www.ebi.ac.uk/efo/EFO_0002521 node PO_0025606 native plant cell A native plant cell is one that is not grown or maintained in vitro, nor part of an in vitro plant structure (PO:0000004). http://purl.obolibrary.org/obo/PO_0025606 node EFO_0009062 Temple-Baraitser syndrome null http://www.ebi.ac.uk/efo/EFO_0009062 node Orphanet_401849 Autosomal recessive spastic paraplegia type 72 Editor note: This class covers either AD or AR. in ORDO this is classified as *both* AD and AR. This would cause inconsistencies here, so we are neutral about the inheritance http://www.orpha.net/ORDO/Orphanet_401849 node HP_0000201 Pierre-Robin sequence null http://purl.obolibrary.org/obo/HP_0000201 node CHEBI_38866 tetrafluoroethene null http://purl.obolibrary.org/obo/CHEBI_38866 node EFO_0006865 urgency urinary incontinence Involuntary discharge of URINE that is associated with an abrupt and strong desire to void. It is usually related to the involuntary contractions of the detrusor muscle of the bladder (detrusor hyperreflexia or detrusor instability). http://www.ebi.ac.uk/efo/EFO_0006865 node EFO_0003460 obsolete_neurogenic placode null http://www.ebi.ac.uk/efo/EFO_0003460 node EFO_0004302 anthropometric measurement null http://www.ebi.ac.uk/efo/EFO_0004302 node EFO_1001759 alcohol amnestic disorder null http://www.ebi.ac.uk/efo/EFO_1001759 node MONDO_0015523 epithelioid hemangioendothelioma null http://purl.obolibrary.org/obo/MONDO_0015523 node PO_0020100 hypocotyl The part of the axis of a plant embryo or seedling below the cotyledon. http://purl.obolibrary.org/obo/PO_0020100 node HP_0006957 Loss of ability to walk null http://purl.obolibrary.org/obo/HP_0006957 node EFO_0009150 cholestasis, intrahepatic, of pregnancy 3 null http://www.ebi.ac.uk/efo/EFO_0009150 node EFO_1000098 Atypical Endometrial Hyperplasia null http://www.ebi.ac.uk/efo/EFO_1000098 node Orphanet_308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C null http://www.orpha.net/ORDO/Orphanet_308400 node EFO_0010195 cDNA read null http://www.ebi.ac.uk/efo/EFO_0010195 node NCBITaxon_3415 Liriodendron tulipifera null http://purl.obolibrary.org/obo/NCBITaxon_3415 node MONDO_0000351 disorder of methionine catabolism null http://purl.obolibrary.org/obo/MONDO_0000351 node Orphanet_183494 Genetic immune deficiency with skin involvement null http://www.orpha.net/ORDO/Orphanet_183494 node Orphanet_33573 Gamma-glutamyl transpeptidase deficiency null http://www.orpha.net/ORDO/Orphanet_33573 node EFO_1001819 orbital myositis null http://www.ebi.ac.uk/efo/EFO_1001819 node EFO_0006748 RTS3b null http://www.ebi.ac.uk/efo/EFO_0006748 node MONDO_0015130 acquired chronic primary adrenal insufficiency null http://purl.obolibrary.org/obo/MONDO_0015130 node EFO_0010897 mesothelial cell of small intestine null http://www.ebi.ac.uk/efo/EFO_0010897 node EFO_1000205 Conjunctival Nevus null http://www.ebi.ac.uk/efo/EFO_1000205 node CL_0000158 club cell null http://purl.obolibrary.org/obo/CL_0000158 node EFO_0003708 obsolete_primordial vasculature null http://www.ebi.ac.uk/efo/EFO_0003708 node EFO_0010302 entorhinal cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010302 node Orphanet_98856 Charcot-Marie-Tooth disease type 2B1 null http://www.orpha.net/ORDO/Orphanet_98856 node Orphanet_183601 Rare genetic refraction anomaly null http://www.orpha.net/ORDO/Orphanet_183601 node Orphanet_1647 Oculocerebrocutaneous syndrome null http://www.orpha.net/ORDO/Orphanet_1647 node GO_0042360 vitamin E metabolic process null http://purl.obolibrary.org/obo/GO_0042360 node EFO_0006355 143B null http://www.ebi.ac.uk/efo/EFO_0006355 node UBERON_0005256 trunk mesenchyme null http://purl.obolibrary.org/obo/UBERON_0005256 node EFO_1001907 panic disorder without agoraphobia null http://www.ebi.ac.uk/efo/EFO_1001907 node MONDO_0060622 neurodevelopmental disorder with severe motor impairment and absent language null http://purl.obolibrary.org/obo/MONDO_0060622 node EFO_0005856 arthritis Editor note: osteoarthritis is primarily non-inflammatory which causes issues if we classify arthritis as inflammatory. http://www.ebi.ac.uk/efo/EFO_0005856 node Orphanet_155899 Mandibulofacial dysostosis null http://www.orpha.net/ORDO/Orphanet_155899 node Orphanet_79373 Ectodermal dysplasia syndrome null http://www.orpha.net/ORDO/Orphanet_79373 node MONDO_0044202 episodic kinesigenic dyskinesia null http://purl.obolibrary.org/obo/MONDO_0044202 node NCBITaxon_4102 Petunia x hybrida null http://purl.obolibrary.org/obo/NCBITaxon_4102 node EFO_0005166 Blanes ecotype null http://www.ebi.ac.uk/efo/EFO_0005166 node EFO_0009979 single cell Hi-C null http://www.ebi.ac.uk/efo/EFO_0009979 node MONDO_0012187 Fanconi anemia complementation group j null http://purl.obolibrary.org/obo/MONDO_0012187 node EFO_0010348 cholesteryl ester 20:4 measurement null http://www.ebi.ac.uk/efo/EFO_0010348 node MONDO_0021108 meningitis (disease) null http://purl.obolibrary.org/obo/MONDO_0021108 node UBERON_0002100 trunk null http://purl.obolibrary.org/obo/UBERON_0002100 node EFO_1000106 Benign Adrenal Gland Pheochromocytoma null http://www.ebi.ac.uk/efo/EFO_1000106 node GO_0040012 regulation of locomotion null http://purl.obolibrary.org/obo/GO_0040012 node MONDO_0018502 hereditary gastric cancer null http://purl.obolibrary.org/obo/MONDO_0018502 node EFO_0005944 cumulative dose response to bevacizumab null http://www.ebi.ac.uk/efo/EFO_0005944 node EFO_0008790 m6A-seq null http://www.ebi.ac.uk/efo/EFO_0008790 node Orphanet_140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy null http://www.orpha.net/ORDO/Orphanet_140453 node EFO_0005254 neurally mediated hypotension null http://www.ebi.ac.uk/efo/EFO_0005254 node Orphanet_2712 Oculofaciocardiodental syndrome null http://www.orpha.net/ORDO/Orphanet_2712 node EFO_0005077 spotted protein reporter null http://www.ebi.ac.uk/efo/EFO_0005077 node CLO_0016494 GM17797 null http://purl.obolibrary.org/obo/CLO_0016494 node GO_0009628 response to abiotic stimulus Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0009628 node Orphanet_91397 Isolated ankyloblepharon filiforme adnatum null http://www.orpha.net/ORDO/Orphanet_91397 node Orphanet_79062 Disorder of amino acid and other organic acid metabolism null http://www.orpha.net/ORDO/Orphanet_79062 node NCBITaxon_272560 Burkholderia pseudomallei K96243 null http://purl.obolibrary.org/obo/NCBITaxon_272560 node EFO_0006470 Panc 08.13 null http://www.ebi.ac.uk/efo/EFO_0006470 node Orphanet_325345 46,XY ovotesticular disorder of sex development null http://www.orpha.net/ORDO/Orphanet_325345 node EFO_0009469 Bartholin gland disease null http://www.ebi.ac.uk/efo/EFO_0009469 node CHEBI_50505 sweetening agent role null http://purl.obolibrary.org/obo/CHEBI_50505 node UBERON_0000979 tibia null http://purl.obolibrary.org/obo/UBERON_0000979 node EFO_0008030 arylsulfatase B measurement null http://www.ebi.ac.uk/efo/EFO_0008030 node Orphanet_912 Zellweger syndrome Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61 http://www.orpha.net/ORDO/Orphanet_912 node Orphanet_101082 Charcot-Marie-Tooth disease type 1B null http://www.orpha.net/ORDO/Orphanet_101082 node EFO_0009895 oxcarbazepine-induced hyponatremia null http://www.ebi.ac.uk/efo/EFO_0009895 node EFO_0004782 behavior or behavioral disorder measurement null http://www.ebi.ac.uk/efo/EFO_0004782 node Orphanet_79150 Linear and whorled nevoid hypermelanosis null http://www.orpha.net/ORDO/Orphanet_79150 node EFO_0008734 ezRAD null http://www.ebi.ac.uk/efo/EFO_0008734 node EFO_0001194 IB3-1 null http://www.ebi.ac.uk/efo/EFO_0001194 node EFO_0002241 MT3 null http://www.ebi.ac.uk/efo/EFO_0002241 node EFO_0001314 pharyngula prim-5 null http://www.ebi.ac.uk/efo/EFO_0001314 node NCBITaxon_210007 Streptococcus mutans UA159 null http://purl.obolibrary.org/obo/NCBITaxon_210007 node Orphanet_102012 Pure hereditary spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_102012 node EFO_1000440 Pancreatic Gastrinoma null http://www.ebi.ac.uk/efo/EFO_1000440 node EFO_0009778 tri-iodothyronine measurement null http://www.ebi.ac.uk/efo/EFO_0009778 node CL_0002016 CD71-low, GlyA-positive polychromatic erythroblast Cell surface markers are associated with human cells. http://purl.obolibrary.org/obo/CL_0002016 node CHEBI_133607 m-hydroxyhippurate null http://purl.obolibrary.org/obo/CHEBI_133607 node EFO_0004870 sleep measurement null http://www.ebi.ac.uk/efo/EFO_0004870 node Orphanet_3236 Conductive deafness - ptosis - skeletal anomalies null http://www.orpha.net/ORDO/Orphanet_3236 node Orphanet_2309 Pachyonychia congenita null http://www.orpha.net/ORDO/Orphanet_2309 node Orphanet_63 Alport syndrome null http://www.orpha.net/ORDO/Orphanet_63 node EFO_0009820 seeing a general practitioner for nerves, anxiety, tension or depression, self-reported null http://www.ebi.ac.uk/efo/EFO_0009820 node MONDO_0002220 tooth hard tissue disease null http://purl.obolibrary.org/obo/MONDO_0002220 node Orphanet_34515 Autosomal recessive limb-girdle muscular dystrophy type 2I null http://www.orpha.net/ORDO/Orphanet_34515 node Orphanet_352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement null http://www.orpha.net/ORDO/Orphanet_352312 node EFO_0008822 MPRA null http://www.ebi.ac.uk/efo/EFO_0008822 node Orphanet_276556 Hyperinsulinism due to UCP2 deficiency null http://www.orpha.net/ORDO/Orphanet_276556 node CL_1000398 endothelial cell of hepatic sinusoid null http://purl.obolibrary.org/obo/CL_1000398 node EFO_0009584 AQP4-IgG-positive neuromyelitis optica null http://www.ebi.ac.uk/efo/EFO_0009584 node MONDO_0014863 macrocephaly, dysmorphic facies, and psychomotor retardation null http://purl.obolibrary.org/obo/MONDO_0014863 node CHEBI_64575 lysophosphatidylethanolamine 18:1 null http://purl.obolibrary.org/obo/CHEBI_64575 node EFO_0001282 obsolete_blastula stage null http://www.ebi.ac.uk/efo/EFO_0001282 node EFO_0008635 Illumina iSeq 100 null http://www.ebi.ac.uk/efo/EFO_0008635 node EFO_0002124 CA46 null http://www.ebi.ac.uk/efo/EFO_0002124 node NCBITaxon_3983 Manihot esculenta null http://purl.obolibrary.org/obo/NCBITaxon_3983 node EFO_0000637 osteosarcoma null http://www.ebi.ac.uk/efo/EFO_0000637 node EFO_0009866 pulmonary vascular congestion null http://www.ebi.ac.uk/efo/EFO_0009866 node Orphanet_3324 Familial thrombomodulin anomalies null http://www.orpha.net/ORDO/Orphanet_3324 node Orphanet_108985 Non-syndromic developmental defect of the eye null http://www.orpha.net/ORDO/Orphanet_108985 node EFO_0008224 mannose-binding protein C measurement null http://www.ebi.ac.uk/efo/EFO_0008224 node EFO_1000773 toxicodendron dermatitis null http://www.ebi.ac.uk/efo/EFO_1000773 node Orphanet_329211 Autosomal dominant neovascular inflammatory vitreoretinopathy null http://www.orpha.net/ORDO/Orphanet_329211 node EFO_0000244 adult midgut precursor null http://www.ebi.ac.uk/efo/EFO_0000244 node EFO_0002212 JM1 null http://www.ebi.ac.uk/efo/EFO_0002212 node EFO_0009672 inner ear disease null http://www.ebi.ac.uk/efo/EFO_0009672 node EFO_0010870 HG03135 null http://www.ebi.ac.uk/efo/EFO_0010870 node EFO_0010665 short stature and microcephaly with genital anomalies null http://www.ebi.ac.uk/efo/EFO_0010665 node UBERON_0006603 presumptive mesoderm null http://purl.obolibrary.org/obo/UBERON_0006603 node EFO_0005355 HUES1 null http://www.ebi.ac.uk/efo/EFO_0005355 node CLO_0014391 GM17251 null http://purl.obolibrary.org/obo/CLO_0014391 node EFO_0002610 cocaine dependence null http://www.ebi.ac.uk/efo/EFO_0002610 node Orphanet_3412 VACTERL with hydrocephalus null http://www.orpha.net/ORDO/Orphanet_3412 node EFO_0003865 kidney neoplasm null http://www.ebi.ac.uk/efo/EFO_0003865 node EFO_0000946 obsolete_pectoral girdle null http://www.ebi.ac.uk/efo/EFO_0000946 node EFO_1000380 Mixed Cell Uveal Melanoma null http://www.ebi.ac.uk/efo/EFO_1000380 node MA_0002714 autopod null http://purl.obolibrary.org/obo/MA_0002714 node EFO_1000175 Chondroid Hamartoma null http://www.ebi.ac.uk/efo/EFO_1000175 node MONDO_0016236 kaposiform hemangioendothelioma null http://purl.obolibrary.org/obo/MONDO_0016236 node UBERON_0003078 epibranchial placode null http://purl.obolibrary.org/obo/UBERON_0003078 node EFO_1000656 sporadic Creutzfeld Jacob disease null http://www.ebi.ac.uk/efo/EFO_1000656 node EFO_0003678 obsolete_terminal nerve null http://www.ebi.ac.uk/efo/EFO_0003678 node HP_0000618 Blindness Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. http://purl.obolibrary.org/obo/HP_0000618 node EFO_0010272 abdominal aortic calcification measurement null http://www.ebi.ac.uk/efo/EFO_0010272 node EFO_0000332 chondromyxoid fibroma null http://www.ebi.ac.uk/efo/EFO_0000332 node EFO_0010753 barcode read null http://www.ebi.ac.uk/efo/EFO_0010753 node UBERON_0002537 hermaphrodite gonad null http://purl.obolibrary.org/obo/UBERON_0002537 node EFO_1001013 lethal midline granuloma Editor note: TODO granuloma DP http://www.ebi.ac.uk/efo/EFO_1001013 node EFO_0005443 OVCAR5 null http://www.ebi.ac.uk/efo/EFO_0005443 node EFO_0003062 obsolete_peroneal nerve null http://www.ebi.ac.uk/efo/EFO_0003062 node EFO_0000145 CS57850 null http://www.ebi.ac.uk/efo/EFO_0000145 node Orphanet_275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections null http://www.orpha.net/ORDO/Orphanet_275517 node EFO_0001137 GM12145 null http://www.ebi.ac.uk/efo/EFO_0001137 node EFO_0000553 invasive lobular carcinoma null http://www.ebi.ac.uk/efo/EFO_0000553 node EFO_1001234 vasculogenic impotence null http://www.ebi.ac.uk/efo/EFO_1001234 node EFO_1000263 Gallbladder Adenoma null http://www.ebi.ac.uk/efo/EFO_1000263 node HP_0002019 Constipation null http://purl.obolibrary.org/obo/HP_0002019 node NCBITaxon_182096 Aspergillus chevalieri Entry Merged. Taxid 41411 was merged into taxid 182096 on January 25, 2013. http://purl.obolibrary.org/obo/NCBITaxon_182096 node EFO_0003766 pain in abdomen null http://www.ebi.ac.uk/efo/EFO_0003766 node EFO_0010360 lysophosphatidylcholine 18:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010360 node Orphanet_100988 Autosomal dominant spastic paraplegia type 6 null http://www.orpha.net/ORDO/Orphanet_100988 node MONDO_0016137 acute and subacute inflammatory demyelinating polyneuropathy null http://purl.obolibrary.org/obo/MONDO_0016137 node EFO_0010841 HG02571 null http://www.ebi.ac.uk/efo/EFO_0010841 node UBERON_2000058 polster null http://purl.obolibrary.org/obo/UBERON_2000058 node OBI_0001686 in-situ hybridization assay null http://purl.obolibrary.org/obo/OBI_0001686 node Orphanet_320335 Pure or complex hereditary spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_320335 node EFO_0000436 obsolete_plant embryo null http://www.ebi.ac.uk/efo/EFO_0000436 node EFO_1001322 Eye Foreign Bodies null http://www.ebi.ac.uk/efo/EFO_1001322 node EFO_1001117 postcholecystectomy syndrome null http://www.ebi.ac.uk/efo/EFO_1001117 node CL_0000960 T3 B cell null http://purl.obolibrary.org/obo/CL_0000960 node Orphanet_1338 Heart defect-tongue hamartoma-polysyndactyly syndrome null http://www.orpha.net/ORDO/Orphanet_1338 node CHEBI_45081 pentamidine null http://purl.obolibrary.org/obo/CHEBI_45081 node EFO_0005547 dengue disease null http://www.ebi.ac.uk/efo/EFO_0005547 node UBERON_0002049 vasculature null http://purl.obolibrary.org/obo/UBERON_0002049 node EFO_0004110 obsolete_validation flag null http://www.ebi.ac.uk/efo/EFO_0004110 node ZFA_0001369 anterior pancreatic bud null http://purl.obolibrary.org/obo/ZFA_0001369 node EFO_0003006 ILSXISS110/TejJ null http://www.ebi.ac.uk/efo/EFO_0003006 node PO_0002000 stomatal complex null http://purl.obolibrary.org/obo/PO_0002000 node EFO_1001205 sympathetic ophthalmia null http://www.ebi.ac.uk/efo/EFO_1001205 node MONDO_0001672 bronchus cancer null http://purl.obolibrary.org/obo/MONDO_0001672 node EFO_0005635 ATC Code B Blood and blood forming organs B BLOOD AND BLOOD FORMING ORGANS B01 ANTITHROMBOTIC AGENTS B02 ANTIHEMORRHAGICS B03 ANTIANEMIC PREPARATIONS B05 BLOOD SUBSTITUTES AND PERFUSION SOLUTIONS See also: V07AB - Solvents and diluting agents, incl. irrigating solutions V07AC - Blood transfusion, auxiliary products No DDDs are established in this group. It is considered difficult to establish DDDs, because of the great variations in dosages given. B06 OTHER HEMATOLOGICAL AGENTS No DDDs are established in this group. http://www.ebi.ac.uk/efo/EFO_0005635 node EFO_0004708 nodular sclerosis Hodgkin lymphoma null http://www.ebi.ac.uk/efo/EFO_0004708 node MONDO_0010427 syndromic X-linked intellectual disability Raymond type null http://purl.obolibrary.org/obo/MONDO_0010427 node EFO_0008481 cDNA null http://www.ebi.ac.uk/efo/EFO_0008481 node EFO_0006556 COR-L47 null http://www.ebi.ac.uk/efo/EFO_0006556 node CHEBI_17002 cholesterol ester null http://purl.obolibrary.org/obo/CHEBI_17002 node MONDO_0024876 tendon sheath disorder null http://purl.obolibrary.org/obo/MONDO_0024876 node Orphanet_261144 14q12 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261144 node EFO_0004011 major histocompatibility congenic strain null http://www.ebi.ac.uk/efo/EFO_0004011 node Orphanet_1508 Coxoauricular syndrome null http://www.orpha.net/ORDO/Orphanet_1508 node MONDO_0003453 conjunctival intraepithelial neoplasm null http://purl.obolibrary.org/obo/MONDO_0003453 node EFO_0002692 ChIP-seq null http://www.ebi.ac.uk/efo/EFO_0002692 node Orphanet_217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency null http://www.orpha.net/ORDO/Orphanet_217467 node EFO_0007642 embryonic day 13 null http://www.ebi.ac.uk/efo/EFO_0007642 node EFO_0006644 MDST8 null http://www.ebi.ac.uk/efo/EFO_0006644 node CL_0002489 double negative thymocyte These are precursors to mature T cells; normally, they do not circulate, but are found in the thymus and they have not undergone rearrangement of the alpha and beta T cell receptor genes. http://purl.obolibrary.org/obo/CL_0002489 node Orphanet_208650 Cryopyrin-associated periodic syndrome null http://www.orpha.net/ORDO/Orphanet_208650 node Orphanet_295219 Radio-ulnar synostosis, bilateral null http://www.orpha.net/ORDO/Orphanet_295219 node Orphanet_309819 Disorder of pterin metabolism null http://www.orpha.net/ORDO/Orphanet_309819 node Orphanet_99750 Atypical progressive supranuclear palsy null http://www.orpha.net/ORDO/Orphanet_99750 node Orphanet_98628 Syndromic corneal dystrophy null http://www.orpha.net/ORDO/Orphanet_98628 node Orphanet_397596 Activated PIK3-delta syndrome null http://www.orpha.net/ORDO/Orphanet_397596 node EFO_0007688 chromosome conformation capture assay null http://www.ebi.ac.uk/efo/EFO_0007688 node MONDO_0003541 adult acute lymphoblastic leukemia null http://purl.obolibrary.org/obo/MONDO_0003541 node MONDO_0002614 bone inflammation disease null http://purl.obolibrary.org/obo/MONDO_0002614 node EFO_0007707 cerebral amyloid deposition measurement null http://www.ebi.ac.uk/efo/EFO_0007707 node EFO_0002780 obsolete_chorion null http://www.ebi.ac.uk/efo/EFO_0002780 node Orphanet_1409 Woolly hair - hypotrichosis - everted lower lip - outstanding ears null http://www.orpha.net/ORDO/Orphanet_1409 node NCBITaxon_5111 Claviceps purpurea null http://purl.obolibrary.org/obo/NCBITaxon_5111 node HP_0000460 Narrow nose Note: a small nose has both decreased height and a decreased width. These should be coded separately. http://purl.obolibrary.org/obo/HP_0000460 node MONDO_0002837 sarcomatoid transitional cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0002837 node EFO_0007494 sporotrichosis null http://www.ebi.ac.uk/efo/EFO_0007494 node Orphanet_140905 Hyperlipidemia due to hepatic triglyceride lipase deficiency null http://www.orpha.net/ORDO/Orphanet_140905 node UBERON_0001777 substantia propria of cornea null http://purl.obolibrary.org/obo/UBERON_0001777 node UO_0000043 femtomole null http://purl.obolibrary.org/obo/UO_0000043 node NCBITaxon_186538 Zaire ebolavirus null http://purl.obolibrary.org/obo/NCBITaxon_186538 node EFO_0000695 obsolete_sex null http://www.ebi.ac.uk/efo/EFO_0000695 node EFO_0007105 iPS-18a null http://www.ebi.ac.uk/efo/EFO_0007105 node Orphanet_103908 Congenital sodium diarrhea null http://www.orpha.net/ORDO/Orphanet_103908 node EFO_1001199 subvalvular aortic stenosis null http://www.ebi.ac.uk/efo/EFO_1001199 node HP_0002088 Abnormal lung morphology null http://purl.obolibrary.org/obo/HP_0002088 node HP_0004371 Abnormality of glycosaminoglycan metabolism A glycosaminoglycan is any polysaccharide containing a substantial proportion of aminomonosaccharide residues. Glycosaminoglycan (GAG) are long unbranched polysaccharides consisting of a repeating disaccharide unit. Among the most common GAGs are chondroitin sulfate, dermatan sulfate, chondroitin sulfate, keratan sulfate, heparan sulfate, and hyaluronan. http://purl.obolibrary.org/obo/HP_0004371 node EFO_0009275 premature cardiac contractions null http://www.ebi.ac.uk/efo/EFO_0009275 node Orphanet_79152 Disseminated superficial actinic porokeratosis null http://www.orpha.net/ORDO/Orphanet_79152 node CL_0001023 Kit-positive, CD34-positive common myeloid progenitor Markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000034)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001023 node MONDO_0020130 malformation of the cerebellar vermis null http://purl.obolibrary.org/obo/MONDO_0020130 node HP_0000708 Behavioral abnormality null http://purl.obolibrary.org/obo/HP_0000708 node CLO_0013097 GM17281 null http://purl.obolibrary.org/obo/CLO_0013097 node HP_0002353 EEG abnormality null http://purl.obolibrary.org/obo/HP_0002353 node MONDO_0015073 gallbladder neuroendocrine tumor, grade 1/2 null http://purl.obolibrary.org/obo/MONDO_0015073 node Orphanet_99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I null http://www.orpha.net/ORDO/Orphanet_99942 node EFO_0009363 chronic central serous retinopathy null http://www.ebi.ac.uk/efo/EFO_0009363 node EFO_0004809 fructose-bisphosphate aldolase measurement null http://www.ebi.ac.uk/efo/EFO_0004809 node CHEBI_556075 radicicol null http://purl.obolibrary.org/obo/CHEBI_556075 node EFO_0009176 adrenal suppression measurement null http://www.ebi.ac.uk/efo/EFO_0009176 node EFO_1001093 Pelger-Huet anomaly null http://www.ebi.ac.uk/efo/EFO_1001093 node EFO_1000071 Adenoid Cystic Breast Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000071 node EFO_0005520 conversion protocol null http://www.ebi.ac.uk/efo/EFO_0005520 node HP_0011141 Age-related cataract The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibres throughout life, so with increasing age the lens becomes more compact and thicker. http://purl.obolibrary.org/obo/HP_0011141 node EFO_0003574 obsolete_neural crest telencephalon null http://www.ebi.ac.uk/efo/EFO_0003574 node HANCESTRO_0383 Irish null http://purl.obolibrary.org/obo/HANCESTRO_0383 node EFO_0003369 obsolete_Malpighian tubule primordium null http://www.ebi.ac.uk/efo/EFO_0003369 node EFO_0004416 acid null http://www.ebi.ac.uk/efo/EFO_0004416 node EFO_0008319 WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008319 node Orphanet_314051 Leukoencephalopathy - thalamus and brainstem anomalies - high lactate null http://www.orpha.net/ORDO/Orphanet_314051 node Orphanet_1350 Heart-hand syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_1350 node MONDO_0056819 nasal cavity and paranasal sinus carcinoma Editor note: TODO add uberon term http://purl.obolibrary.org/obo/MONDO_0056819 node EFO_0007966 clopidogrel metabolite measurement null http://www.ebi.ac.uk/efo/EFO_0007966 node EFO_0004561 obsolete_African null http://www.ebi.ac.uk/efo/EFO_0004561 node EFO_0007789 BMI-adjusted waist circumference null http://www.ebi.ac.uk/efo/EFO_0007789 node CLO_0014393 GM17257 null http://purl.obolibrary.org/obo/CLO_0014393 node EFO_0003457 obsolete_vagal placode 2 null http://www.ebi.ac.uk/efo/EFO_0003457 node EFO_0004504 serum hepcidin measurement null http://www.ebi.ac.uk/efo/EFO_0004504 node EFO_0010051 response to immunosuppressant null http://www.ebi.ac.uk/efo/EFO_0010051 node EFO_0008407 susceptibility to Mycobacterium tuberculosis infection measurement null http://www.ebi.ac.uk/efo/EFO_0008407 node HP_0032547 Low intraocular pressure Ocular hypotony is defined statistically as an intraocular pressure (IOP) of less than 6.5 mmHg, three standard deviations below the mean. Clinically significant hypotony is when the IOP is so low that there is resultant visual loss. Hypotony has also been described as low pressure in an individual eye, leading to functional changes and structural changes. http://purl.obolibrary.org/obo/HP_0032547 node CHEBI_18186 tyrosine null http://purl.obolibrary.org/obo/CHEBI_18186 node CHEBI_17822 serine null http://purl.obolibrary.org/obo/CHEBI_17822 node NCBITaxon_5518 Fusarium graminearum null http://purl.obolibrary.org/obo/NCBITaxon_5518 node MONDO_0000535 tonsil squamous cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0000535 node GO_0005791 rough endoplasmic reticulum null http://purl.obolibrary.org/obo/GO_0005791 node EFO_0003064 primary cell line null http://www.ebi.ac.uk/efo/EFO_0003064 node EFO_0007877 risky sexual behaviour measurement null http://www.ebi.ac.uk/efo/EFO_0007877 node Orphanet_183533 Genetic multiple congenital anomalies/dysmorphic syndrome null http://www.orpha.net/ORDO/Orphanet_183533 node Orphanet_70474 Leigh syndrome with cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_70474 node UBERON_0002214 macula of utricle of membranous labyrinth null http://purl.obolibrary.org/obo/UBERON_0002214 node Orphanet_137658 Microcephaly - intellectual disability - phalangeal and neurological anomalies null http://www.orpha.net/ORDO/Orphanet_137658 node Orphanet_2964 Autosomal dominant prognathism null http://www.orpha.net/ORDO/Orphanet_2964 node MONDO_0018496 ARX-related encephalopathy-brain malformation spectrum null http://purl.obolibrary.org/obo/MONDO_0018496 node CL_0002345 CD27-low, CD11b-low immature natural killer cell, mouse Markers are associated with mouse cells. http://purl.obolibrary.org/obo/CL_0002345 node EFO_0005205 response to dabigatran etexilate null http://www.ebi.ac.uk/efo/EFO_0005205 node Orphanet_95711 Congenital hypothyroidism due to developmental anomaly Editor note: fix definition http://www.orpha.net/ORDO/Orphanet_95711 node CHEBI_73017 O-isobutyrylcarnitine null http://purl.obolibrary.org/obo/CHEBI_73017 node EFO_0005028 anti-H3K27-3Me null http://www.ebi.ac.uk/efo/EFO_0005028 node EFO_0005110 fatty acid measurement null http://www.ebi.ac.uk/efo/EFO_0005110 node EFO_0006721 OVCA429 null http://www.ebi.ac.uk/efo/EFO_0006721 node EFO_0009923 Peptic ulcer and gastro-oesophageal reflux disease (GORD) drug use measurement null http://www.ebi.ac.uk/efo/EFO_0009923 node FBbt_00016000 hypopharynx anlage in statu nascendi null http://purl.obolibrary.org/obo/FBbt_00016000 node Orphanet_2865 Short stature - webbed neck - heart disease null http://www.orpha.net/ORDO/Orphanet_2865 node Orphanet_401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons null http://www.orpha.net/ORDO/Orphanet_401964 node CL_0002433 CD69-positive, CD4-positive single-positive thymocyte null http://purl.obolibrary.org/obo/CL_0002433 node GO_0060453 regulation of gastric acid secretion null http://purl.obolibrary.org/obo/GO_0060453 node EFO_0007097 iPS DF 4.7 null http://www.ebi.ac.uk/efo/EFO_0007097 node Orphanet_319675 Microcephalic primordial dwarfism, Dauber type ORDO calls this microcephalic primordial dwarfism, Dauber type http://www.orpha.net/ORDO/Orphanet_319675 node MONDO_0021137 not rare null http://purl.obolibrary.org/obo/MONDO_0021137 node MONDO_0024339 lymph node neoplasm null http://purl.obolibrary.org/obo/MONDO_0024339 node CLO_0023783 GM10845 null http://purl.obolibrary.org/obo/CLO_0023783 node EFO_1001874 amyloidoma null http://www.ebi.ac.uk/efo/EFO_1001874 node Orphanet_2232 Primary hypergonadotropic hypogonadism - partial alopecia null http://www.orpha.net/ORDO/Orphanet_2232 node Orphanet_2027 Gingival fibromatosis - progressive deafness null http://www.orpha.net/ORDO/Orphanet_2027 node EFO_0007571 HCS library protocol null http://www.ebi.ac.uk/efo/EFO_0007571 node NCBITaxon_11620 Lassa virus null http://purl.obolibrary.org/obo/NCBITaxon_11620 node Orphanet_156532 Rare syndrome with cardiac malformations null http://www.orpha.net/ORDO/Orphanet_156532 node MONDO_0002715 uterine cancer null http://purl.obolibrary.org/obo/MONDO_0002715 node EFO_0007258 ephemeral fever null http://www.ebi.ac.uk/efo/EFO_0007258 node EFO_0002818 CADO ES1 null http://www.ebi.ac.uk/efo/EFO_0002818 node MONDO_0002528 synovium neoplasm null http://purl.obolibrary.org/obo/MONDO_0002528 node Orphanet_98691 Abnormal eye movements null http://www.orpha.net/ORDO/Orphanet_98691 node FBbt_00005646 embryonic precursor of adult hindgut null http://purl.obolibrary.org/obo/FBbt_00005646 node EFO_0007185 brucellosis null http://www.ebi.ac.uk/efo/EFO_0007185 node Orphanet_994 Fetal akinesia deformation sequence null http://www.orpha.net/ORDO/Orphanet_994 node Orphanet_99324 Paternal uniparental disomy of chromosome 13 null http://www.orpha.net/ORDO/Orphanet_99324 node MONDO_0021225 uvea neoplasm null http://purl.obolibrary.org/obo/MONDO_0021225 node EFO_1001481 enterocolitis null http://www.ebi.ac.uk/efo/EFO_1001481 node MONDO_0042973 familial osteosclerosis null http://purl.obolibrary.org/obo/MONDO_0042973 node Orphanet_324313 9p13 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_324313 node Orphanet_2115 Harrod syndrome null http://www.orpha.net/ORDO/Orphanet_2115 node EFO_1001962 ovarian cystadenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1001962 node EFO_0004984 complement C4 measurement null http://www.ebi.ac.uk/efo/EFO_0004984 node EFO_0008887 Rep-Seq null http://www.ebi.ac.uk/efo/EFO_0008887 node MONDO_0021038 Ewing sarcoma/peripheral primitive neuroectodermal tumor null http://purl.obolibrary.org/obo/MONDO_0021038 node EFO_0002602 obsolete_proximal portion of circumflex branch of left coronary artery null http://www.ebi.ac.uk/efo/EFO_0002602 node Orphanet_90045 Hereditary folate malabsorption null http://www.orpha.net/ORDO/Orphanet_90045 node Orphanet_3255 Filippi syndrome null http://www.orpha.net/ORDO/Orphanet_3255 node EFO_0009039 Congenital bile acid synthesis defect null http://www.ebi.ac.uk/efo/EFO_0009039 node EFO_0002425 neoplasm of immature B and T cells null http://www.ebi.ac.uk/efo/EFO_0002425 node EFO_0003342 obsolete_hindgut anlage null http://www.ebi.ac.uk/efo/EFO_0003342 node EFO_0001396 obsolete_femur null http://www.ebi.ac.uk/efo/EFO_0001396 node MONDO_0002616 mesenchymal cell neoplasm null http://purl.obolibrary.org/obo/MONDO_0002616 node EFO_0002238 ML2 null http://www.ebi.ac.uk/efo/EFO_0002238 node PATO_0002182 molecular quality null http://purl.obolibrary.org/obo/PATO_0002182 node EFO_0002719 L2 larva null http://www.ebi.ac.uk/efo/EFO_0002719 node Orphanet_26791 Multiple acyl-CoA dehydrogenase deficiency Also known as glutaric acidemia II. Referenced from Glutaric aciduria, type I (231670). http://www.orpha.net/ORDO/Orphanet_26791 node Orphanet_101004 Autosomal recessive spastic paraplegia type 24 null http://www.orpha.net/ORDO/Orphanet_101004 node EFO_0009440 age at last pregnancy measurement null http://www.ebi.ac.uk/efo/EFO_0009440 node EFO_0009817 ease of getting up in the morning, self-reported null http://www.ebi.ac.uk/efo/EFO_0009817 node EFO_1000869 chronic interstitial cystitis null http://www.ebi.ac.uk/efo/EFO_1000869 node MONDO_0002217 central nervous system sarcoma null http://purl.obolibrary.org/obo/MONDO_0002217 node EFO_0008338 fear of severe pain measurement null http://www.ebi.ac.uk/efo/EFO_0008338 node HP_0004840 Hypochromic microcytic anemia null http://purl.obolibrary.org/obo/HP_0004840 node Orphanet_99176 Congenital eyelid retraction Editor note: check ORDO classification http://www.orpha.net/ORDO/Orphanet_99176 node EFO_0003430 obsolete_pectoral fin bud null http://www.ebi.ac.uk/efo/EFO_0003430 node CHEBI_64115 (1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride null http://purl.obolibrary.org/obo/CHEBI_64115 node Orphanet_98249 Ehlers-Danlos syndrome null http://www.orpha.net/ORDO/Orphanet_98249 node EFO_0001279 blastula dome null http://www.ebi.ac.uk/efo/EFO_0001279 node EFO_0002326 SEM null http://www.ebi.ac.uk/efo/EFO_0002326 node EFO_1001170 obsolete_sea-blue histiocyte syndrome null http://www.ebi.ac.uk/efo/EFO_1001170 node Orphanet_75326 Retinal arterial tortuosity null http://www.orpha.net/ORDO/Orphanet_75326 node UBERON_0002080 heart right ventricle null http://purl.obolibrary.org/obo/UBERON_0002080 node Orphanet_2479 Megalocornea-intellectual disability syndrome null http://www.orpha.net/ORDO/Orphanet_2479 node Orphanet_209041 Qualitative or quantitative defects of desmin null http://www.orpha.net/ORDO/Orphanet_209041 node EFO_0008426 IgG bisecting N-acetyl glucosamine measurement null http://www.ebi.ac.uk/efo/EFO_0008426 node EFO_0003816 normalization data transformation protocol null http://www.ebi.ac.uk/efo/EFO_0003816 node CLO_0031600 GM14535 null http://purl.obolibrary.org/obo/CLO_0031600 node Orphanet_1299 Branchio-skeleto-genital syndrome null http://www.orpha.net/ORDO/Orphanet_1299 node EFO_0005539 adrenal gland disease null http://www.ebi.ac.uk/efo/EFO_0005539 node EFO_0004280 movement disorder null http://www.ebi.ac.uk/efo/EFO_0004280 node EFO_0010867 HG03097 null http://www.ebi.ac.uk/efo/EFO_0010867 node EFO_0008183 interleukin 27 receptor subunit alpha measurement null http://www.ebi.ac.uk/efo/EFO_0008183 node Orphanet_289586 Exfoliative ichthyosis null http://www.orpha.net/ORDO/Orphanet_289586 node Orphanet_182098 pneumoconiosis null http://www.orpha.net/ORDO/Orphanet_182098 node CL_0000765 erythroblast null http://purl.obolibrary.org/obo/CL_0000765 node Orphanet_351 Galactosialidosis null http://www.orpha.net/ORDO/Orphanet_351 node Orphanet_1065 Aniridia - cerebellar ataxia - intellectual disability null http://www.orpha.net/ORDO/Orphanet_1065 node CL_0000670 primordial germ cell null http://purl.obolibrary.org/obo/CL_0000670 node Orphanet_363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome null http://www.orpha.net/ORDO/Orphanet_363686 node Orphanet_198 Occipital horn syndrome null http://www.orpha.net/ORDO/Orphanet_198 node NCBITaxon_7955 Danio rerio null http://purl.obolibrary.org/obo/NCBITaxon_7955 node EFO_1000377 Micropapillary Serous Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000377 node EFO_1000214 Dedifferentiated Solitary Fibrous Tumor null http://www.ebi.ac.uk/efo/EFO_1000214 node ZFA_0000141 pectoral fin bud null http://purl.obolibrary.org/obo/ZFA_0000141 node EFO_0000329 obsolete_cerebrospinal fluid null http://www.ebi.ac.uk/efo/EFO_0000329 node Orphanet_238475 Familial hypercholanemia null http://www.orpha.net/ORDO/Orphanet_238475 node EFO_1001095 peptic esophagitis null http://www.ebi.ac.uk/efo/EFO_1001095 node EFO_0010468 carboxylic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010468 node Orphanet_96183 Maternal uniparental disomy of chromosome 9 null http://www.orpha.net/ORDO/Orphanet_96183 node NCBITaxon_27292 Saccharomyces pastorianus null http://purl.obolibrary.org/obo/NCBITaxon_27292 node Orphanet_1855 Spondyloenchondrodysplasia null http://www.orpha.net/ORDO/Orphanet_1855 node CL_0000869 tonsillar macrophage null http://purl.obolibrary.org/obo/CL_0000869 node MONDO_0010584 dyskeratosis congenita, X-linked null http://purl.obolibrary.org/obo/MONDO_0010584 node Orphanet_168624 Familial scaphocephaly syndrome, McGillivray type null http://www.orpha.net/ORDO/Orphanet_168624 node EFO_1000302 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000302 node NCBITaxon_730 Haemophilus ducreyi null http://purl.obolibrary.org/obo/NCBITaxon_730 node MONDO_0004603 collagenopathy null http://purl.obolibrary.org/obo/MONDO_0004603 node MONDO_0000700 familial hemiplegic migraine null http://purl.obolibrary.org/obo/MONDO_0000700 node CHEBI_26710 sodium chloride null http://purl.obolibrary.org/obo/CHEBI_26710 node CHEBI_17120 hexanoate null http://purl.obolibrary.org/obo/CHEBI_17120 node NCBITaxon_379731 Pseudomonas stutzeri A1501 null http://purl.obolibrary.org/obo/NCBITaxon_379731 node EFO_0005047 erythrocyte measurement null http://www.ebi.ac.uk/efo/EFO_0005047 node CHEBI_43755 lisinopril null http://purl.obolibrary.org/obo/CHEBI_43755 node CHEBI_28297 hydantoin-5-propionic acid null http://purl.obolibrary.org/obo/CHEBI_28297 node Orphanet_71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_71212 node Orphanet_100932 Nuclear oculomotor paralysis Editor note: see notes for supranuclear http://www.orpha.net/ORDO/Orphanet_100932 node MONDO_0021316 malignant tumor of minor salivary gland null http://purl.obolibrary.org/obo/MONDO_0021316 node Orphanet_254875 Mitochondrial DNA depletion syndrome, myopathic form null http://www.orpha.net/ORDO/Orphanet_254875 node MONDO_0001078 tropical sprue null http://purl.obolibrary.org/obo/MONDO_0001078 node CL_0000957 large pre-B-II cell Large pre-B-II cells are also reportedly CD10-positive, CD19-positive, CD34-negative, CD79a-positive, CD127-negative, TdT-negative, Vpre-B-positive, pre-BCR-positive, sIgM-negative, and sIgD-negative. Transcription factors: PU.1-positive, Ikaros-positive, E2A-positive, and PAX5-positive. http://purl.obolibrary.org/obo/CL_0000957 node CHEBI_36313 glycerophosphocholine null http://purl.obolibrary.org/obo/CHEBI_36313 node EFO_0008595 intermediate density lipoprotein measurement null http://www.ebi.ac.uk/efo/EFO_0008595 node EFO_0005190 urinary nitrogen measurement null http://www.ebi.ac.uk/efo/EFO_0005190 node MONDO_0100137 telomere syndrome null http://purl.obolibrary.org/obo/MONDO_0100137 node GO_0044699 single-organism process null http://purl.obolibrary.org/obo/GO_0044699 node MONDO_0018661 Zika virus infectious disease null http://purl.obolibrary.org/obo/MONDO_0018661 node NCBITaxon_155892 Caulobacter vibrioides null http://purl.obolibrary.org/obo/NCBITaxon_155892 node EFO_0004107 obsolete_Atlas Quality Control type null http://www.ebi.ac.uk/efo/EFO_0004107 node EFO_0007915 agreeableness measurement null http://www.ebi.ac.uk/efo/EFO_0007915 node EFO_0002993 ILSXISS80/TejJ null http://www.ebi.ac.uk/efo/EFO_0002993 node NCBITaxon_1678 Bifidobacterium null http://purl.obolibrary.org/obo/NCBITaxon_1678 node EFO_0007738 cingulate cortex measurement null http://www.ebi.ac.uk/efo/EFO_0007738 node CL_0000564 neutrophilic promyelocyte These cells are CD11b-negative, CD15-positive, CD16-negative, CD49d-positive, CD68-positive, CD35-negative, and fMLP receptor-negative. They are found in the Band 3 fraction. http://purl.obolibrary.org/obo/CL_0000564 node EFO_0008683 Chem-Seq null http://www.ebi.ac.uk/efo/EFO_0008683 node NCBITaxon_7368 Haematobia irritans null http://purl.obolibrary.org/obo/NCBITaxon_7368 node Orphanet_79277 Congenital erythropoietic porphyria null http://www.orpha.net/ORDO/Orphanet_79277 node MONDO_0024621 serous cystadenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0024621 node CL_0002124 CD27-positive gamma-delta T cell null http://purl.obolibrary.org/obo/CL_0002124 node MONDO_0002491 substance abuse null http://purl.obolibrary.org/obo/MONDO_0002491 node MONDO_0004111 refractory hematologic cancer null http://purl.obolibrary.org/obo/MONDO_0004111 node Orphanet_52368 Mohr-Tranebjaerg syndrome null http://www.orpha.net/ORDO/Orphanet_52368 node EFO_0007041 obese body mass index status null http://www.ebi.ac.uk/efo/EFO_0007041 node UBERON_0010230 eyeball of camera-type eye null http://purl.obolibrary.org/obo/UBERON_0010230 node Orphanet_99846 Autosomal dominant myoglobinuria null http://www.orpha.net/ORDO/Orphanet_99846 node EFO_0008930 Smart-seq null http://www.ebi.ac.uk/efo/EFO_0008930 node GO_0005740 mitochondrial envelope null http://purl.obolibrary.org/obo/GO_0005740 node EFO_0007826 aggressive behaviour measurement null http://www.ebi.ac.uk/efo/EFO_0007826 node EFO_0009692 voice disorders null http://www.ebi.ac.uk/efo/EFO_0009692 node EFO_0008743 FiT-Seq null http://www.ebi.ac.uk/efo/EFO_0008743 node HP_0000280 Coarse facial features null http://purl.obolibrary.org/obo/HP_0000280 node NCBITaxon_74632 Rosa gallica null http://purl.obolibrary.org/obo/NCBITaxon_74632 node NCBITaxon_1579 Lactobacillus acidophilus null http://purl.obolibrary.org/obo/NCBITaxon_1579 node Orphanet_404521 Spinal muscular atrophy with respiratory distress type 2 null http://www.orpha.net/ORDO/Orphanet_404521 node Orphanet_209188 Qualitative or quantitative defects of emerin null http://www.orpha.net/ORDO/Orphanet_209188 node EFO_0007639 minimal erythema dose null http://www.ebi.ac.uk/efo/EFO_0007639 node CHEBI_33281 antimicrobial agent null http://purl.obolibrary.org/obo/CHEBI_33281 node Orphanet_79365 Hypertrichosis null http://www.orpha.net/ORDO/Orphanet_79365 node EFO_0001252 TERV-ST110 null http://www.ebi.ac.uk/efo/EFO_0001252 node GO_0003012 muscle system process null http://purl.obolibrary.org/obo/GO_0003012 node Orphanet_79178 Glucose transport disorder null http://www.orpha.net/ORDO/Orphanet_79178 node EFO_0001075 ovarian carcinoma Editor note: unclear why this is distinct from malignant ovarian epithelial tumor in NCIT. http://www.ebi.ac.uk/efo/EFO_0001075 node EFO_0001660 medial null http://www.ebi.ac.uk/efo/EFO_0001660 node Orphanet_685 Hereditary spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_685 node EFO_1000881 coronary aneurysm null http://www.ebi.ac.uk/efo/EFO_1000881 node GO_0061477 response to aromatase inhibitor null http://purl.obolibrary.org/obo/GO_0061477 node NCBITaxon_7240 Drosophila simulans null http://purl.obolibrary.org/obo/NCBITaxon_7240 node EFO_0009780 HER2 negative breast carcinoma null http://www.ebi.ac.uk/efo/EFO_0009780 node EFO_0008831 NS-seq null http://www.ebi.ac.uk/efo/EFO_0008831 node EFO_0007350 lymph node tuberculosis null http://www.ebi.ac.uk/efo/EFO_0007350 node HP_0004467 Preauricular pit Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. http://purl.obolibrary.org/obo/HP_0004467 node Orphanet_90321 Cockayne syndrome type 1 null http://www.orpha.net/ORDO/Orphanet_90321 node EFO_0001340 B6C3F1 null http://www.ebi.ac.uk/efo/EFO_0001340 node GO_0005886 plasma membrane null http://purl.obolibrary.org/obo/GO_0005886 node MONDO_0025513 autoimmune urticaria null http://purl.obolibrary.org/obo/MONDO_0025513 node EFO_0001163 obsolete_GM12891 null http://www.ebi.ac.uk/efo/EFO_0001163 node Orphanet_181399 Rare hyperthyroidism null http://www.orpha.net/ORDO/Orphanet_181399 node CHEBI_143617 sphingomyelin 18:0 null http://purl.obolibrary.org/obo/CHEBI_143617 node MONDO_0001829 lumbosacral plexus lesion null http://purl.obolibrary.org/obo/MONDO_0001829 node Orphanet_98807 Primary dystonia, DYT13 type null http://www.orpha.net/ORDO/Orphanet_98807 node Orphanet_3129 Sarcosinemia null http://www.orpha.net/ORDO/Orphanet_3129 node EFO_0006306 TUBO null http://www.ebi.ac.uk/efo/EFO_0006306 node CLO_0015209 ND02852 null http://purl.obolibrary.org/obo/CLO_0015209 node Orphanet_6 Isolated 3-methylcrotonyl-CoA carboxylase deficiency null http://www.orpha.net/ORDO/Orphanet_6 node Orphanet_88940 Pseudohypoaldosteronism type 2C null http://www.orpha.net/ORDO/Orphanet_88940 node Orphanet_2743 Ophthalmoplegia - intellectual disability - lingua scrotalis null http://www.orpha.net/ORDO/Orphanet_2743 node EFO_0008029 apolipoprotein E measurement null http://www.ebi.ac.uk/efo/EFO_0008029 node Orphanet_217093 Mucopolysaccharidosis type 2, attenuated form null http://www.orpha.net/ORDO/Orphanet_217093 node EFO_0003121 NCI-H2882 null http://www.ebi.ac.uk/efo/EFO_0003121 node CHEBI_2596 alliin null http://purl.obolibrary.org/obo/CHEBI_2596 node CLO_0031227 GM14408 null http://purl.obolibrary.org/obo/CLO_0031227 node Orphanet_2556 Microphthalmia with linear skin defects syndrome Editor notes: Renamed from MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 by OMIM on 5/15/15. Placed in both PS309801 and PS309800 by OMIM. http://www.orpha.net/ORDO/Orphanet_2556 node Orphanet_139552 Distal hereditary motor neuropathy, Jerash type null http://www.orpha.net/ORDO/Orphanet_139552 node GO_0065010 extracellular membrane-bounded organelle null http://purl.obolibrary.org/obo/GO_0065010 node Orphanet_98601 Eyebrow/eyelashes pigmentation anomaly null http://www.orpha.net/ORDO/Orphanet_98601 node Orphanet_1563 Dahlberg-Borer-Newcomer syndrome null http://www.orpha.net/ORDO/Orphanet_1563 node MONDO_0002866 duodenal disease null http://purl.obolibrary.org/obo/MONDO_0002866 node EFO_1001823 Periprosthetic Fractures null http://www.ebi.ac.uk/efo/EFO_1001823 node EFO_1000167 Cervical Large Cell Neuroendocrine Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000167 node MONDO_0015889 rare hypothalamic or pituitary disease null http://purl.obolibrary.org/obo/MONDO_0015889 node EFO_0010441 triacylglycerol 58:7 measurement null http://www.ebi.ac.uk/efo/EFO_0010441 node CHEBI_27690 acetazolamide null http://purl.obolibrary.org/obo/CHEBI_27690 node EFO_0010264 spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant null http://www.ebi.ac.uk/efo/EFO_0010264 node CHEBI_35526 hypoglycemic drug null http://purl.obolibrary.org/obo/CHEBI_35526 node Orphanet_943 Malonic aciduria null http://www.orpha.net/ORDO/Orphanet_943 node Orphanet_756 Pseudohypoaldosteronism type 1 null http://www.orpha.net/ORDO/Orphanet_756 node EFO_1001911 pulmonary nodular amyloidosis null http://www.ebi.ac.uk/efo/EFO_1001911 node EFO_1001430 Sublingual Gland Neoplasms null http://www.ebi.ac.uk/efo/EFO_1001430 node EFO_0010558 preprint null http://www.ebi.ac.uk/efo/EFO_0010558 node CHEBI_24532 organic heterocyclic compound null http://purl.obolibrary.org/obo/CHEBI_24532 node UBERON_0014892 skeletal muscle organ null http://purl.obolibrary.org/obo/UBERON_0014892 node EFO_0005860 embryonic stage 1 Temporal ordering number - 40. http://www.ebi.ac.uk/efo/EFO_0005860 node BTO_0000238 cerebrovascular endothelial cell null http://purl.obolibrary.org/obo/BTO_0000238 node EFO_0004933 N1 lymph node stage null http://www.ebi.ac.uk/efo/EFO_0004933 node Orphanet_398088 Hereditary cryohydrocytosis with normal stomatin null http://www.orpha.net/ORDO/Orphanet_398088 node EFO_0004862 phytosterol measurement null http://www.ebi.ac.uk/efo/EFO_0004862 node EFO_0000491 obsolete_facioscapulohumeral muscular dystrophy null http://www.ebi.ac.uk/efo/EFO_0000491 node EFO_1001172 sebaceous gland neoplasm null http://www.ebi.ac.uk/efo/EFO_1001172 node CHEBI_17489 3',5'-cyclic AMP null http://purl.obolibrary.org/obo/CHEBI_17489 node HP_0002061 Lower limb spasticity null http://purl.obolibrary.org/obo/HP_0002061 node CL_0000930 CD4-negative, CD8-negative type I NK T cell secreting interleukin-4 null http://purl.obolibrary.org/obo/CL_0000930 node CHEBI_16261 chitosan null http://purl.obolibrary.org/obo/CHEBI_16261 node EFO_0004675 obsolete_response to antidepressant null http://www.ebi.ac.uk/efo/EFO_0004675 node EFO_0010352 diacylglycerol 34:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010352 node EFO_1000068 Acute Leukemia null http://www.ebi.ac.uk/efo/EFO_1000068 node EFO_0009625 facial pain null http://www.ebi.ac.uk/efo/EFO_0009625 node Orphanet_1711 Mosaic trisomy 17 null http://www.orpha.net/ORDO/Orphanet_1711 node HP_0001438 Abnormal abdomen morphology null http://purl.obolibrary.org/obo/HP_0001438 node EFO_0010165 Osteomyelitis leading to amputation due to slow healing fractures null http://www.ebi.ac.uk/efo/EFO_0010165 node HP_0002355 Difficulty walking null http://purl.obolibrary.org/obo/HP_0002355 node EFO_0010646 genetic non-acquired premature ovarian failure null http://www.ebi.ac.uk/efo/EFO_0010646 node Orphanet_289365 Familial vesicoureteral reflux null http://www.orpha.net/ORDO/Orphanet_289365 node Orphanet_844 Atrial tachyarrhythmia with short PR interval null http://www.orpha.net/ORDO/Orphanet_844 node UBERON_0002245 cerebellar hemisphere null http://purl.obolibrary.org/obo/UBERON_0002245 node EO_0001001 plant treatment null http://purl.obolibrary.org/obo/EO_0001001 node Orphanet_231226 Dominant beta-thalassemia null http://www.orpha.net/ORDO/Orphanet_231226 node EFO_1001260 alcoholic psychosis null http://www.ebi.ac.uk/efo/EFO_1001260 node UBERON_0002058 main ciliary ganglion null http://purl.obolibrary.org/obo/UBERON_0002058 node EFO_0004763 p-tau measurement null http://www.ebi.ac.uk/efo/EFO_0004763 node EFO_0009508 leg injury null http://www.ebi.ac.uk/efo/EFO_0009508 node FMA_3804 proximal portion of right coronary artery null http://purl.obolibrary.org/obo/FMA_3804 node Orphanet_71270 Auriculoocular anomalies - cleft lip null http://www.orpha.net/ORDO/Orphanet_71270 node CHEBI_29806 fumarate(2-) null http://purl.obolibrary.org/obo/CHEBI_29806 node MONDO_0021396 polyp of vulva null http://purl.obolibrary.org/obo/MONDO_0021396 node EFO_0003015 aggressive behavior null http://www.ebi.ac.uk/efo/EFO_0003015 node Orphanet_295097 Congenital absence of both lower leg and foot, unilateral null http://www.orpha.net/ORDO/Orphanet_295097 node Orphanet_169079 Cernunnos-XLF deficiency null http://www.orpha.net/ORDO/Orphanet_169079 node NCBITaxon_328808 Streptopelia risoria null http://purl.obolibrary.org/obo/NCBITaxon_328808 node Orphanet_98595 Eyebrow/eyelashes hypertrichosis null http://www.orpha.net/ORDO/Orphanet_98595 node PO_0007631 plant embryo development stage The plant embryo stage generally starts after the first division of a plant zygote (PO:0000423), but in the case of a nucellar (adventitious) plant embryo (PO:0004537), somatic plant embryo (PO:0025302), microspore-derived cultured plant embryo (PO:0025305), and other embryos that arise through apogamy, it begins after the division of a single cell that is not a zygote. The end of the embryo stage varies among taxa. No plant species undergoes all of the sub-stages of plant embryo development stage listed here. http://purl.obolibrary.org/obo/PO_0007631 node CHEBI_85725 triacylglycerol 48:2 null http://purl.obolibrary.org/obo/CHEBI_85725 node NCBITaxon_556182 freshwater sediment metagenome null http://purl.obolibrary.org/obo/NCBITaxon_556182 node EFO_0006752 SK-CO-1 null http://www.ebi.ac.uk/efo/EFO_0006752 node GO_0036271 response to methylphenidate null http://purl.obolibrary.org/obo/GO_0036271 node EFO_1000719 juvenile dermatitis herpetiformis null http://www.ebi.ac.uk/efo/EFO_1000719 node Orphanet_294415 Renal-hepatic-pancreatic dysplasia null http://www.orpha.net/ORDO/Orphanet_294415 node EFO_0006565 DV-90 null http://www.ebi.ac.uk/efo/EFO_0006565 node Orphanet_231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion null http://www.orpha.net/ORDO/Orphanet_231127 node EFO_0010816 dietary fat liking measurement null http://www.ebi.ac.uk/efo/EFO_0010816 node EFO_0000088 CS57753 null http://www.ebi.ac.uk/efo/EFO_0000088 node Orphanet_2019 Femur-fibula-ulna complex null http://www.orpha.net/ORDO/Orphanet_2019 node EFO_0006973 Oystese ecotype null http://www.ebi.ac.uk/efo/EFO_0006973 node EFO_0005450 SF126 null http://www.ebi.ac.uk/efo/EFO_0005450 node HP_0011712 Right bundle branch block null http://purl.obolibrary.org/obo/HP_0011712 node HP_0000750 Delayed speech and language development Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. http://purl.obolibrary.org/obo/HP_0000750 node Orphanet_98683 Syndrome with a symptomatic strabismus null http://www.orpha.net/ORDO/Orphanet_98683 node Orphanet_71518 Benign paroxysmal torticollis of infancy null http://www.orpha.net/ORDO/Orphanet_71518 node Orphanet_47044 Familial papillary renal cell carcinoma null http://www.orpha.net/ORDO/Orphanet_47044 node NCBITaxon_5062 Aspergillus oryzae null http://purl.obolibrary.org/obo/NCBITaxon_5062 node EFO_0006653 MOLP-2 null http://www.ebi.ac.uk/efo/EFO_0006653 node MONDO_0021091 papillary cystadenoma null http://purl.obolibrary.org/obo/MONDO_0021091 node EFO_0000176 Fischer 344 null http://www.ebi.ac.uk/efo/EFO_0000176 node EFO_0008597 anti-p200 pemphigoid null http://www.ebi.ac.uk/efo/EFO_0008597 node NCBITaxon_48709 Orchesella cincta null http://purl.obolibrary.org/obo/NCBITaxon_48709 node Orphanet_275761 Lysosomal acid lipase deficiency null http://www.orpha.net/ORDO/Orphanet_275761 node Orphanet_96150 Distal monosomy 14q null http://www.orpha.net/ORDO/Orphanet_96150 node Orphanet_308023 Disease with punctate palmoplantar keratoderma as a major feature null http://www.orpha.net/ORDO/Orphanet_308023 node Orphanet_331184 Constitutional neutropenia with extra-haematopoietic manifestations null http://www.orpha.net/ORDO/Orphanet_331184 node EFO_0007690 4C null http://www.ebi.ac.uk/efo/EFO_0007690 node HP_0000979 Purpura Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm). http://purl.obolibrary.org/obo/HP_0000979 node Orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia null http://www.orpha.net/ORDO/Orphanet_3286 node Orphanet_64686 Tolosa-Hunt syndrome null http://www.orpha.net/ORDO/Orphanet_64686 node EFO_0007301 Hepadnaviridae infectious disease null http://www.ebi.ac.uk/efo/EFO_0007301 node FBbt_00017019 cibarium primordium null http://purl.obolibrary.org/obo/FBbt_00017019 node HP_0008067 Abnormally lax or hyperextensible skin null http://purl.obolibrary.org/obo/HP_0008067 node EFO_0007114 ML-DmD23-c4 null http://www.ebi.ac.uk/efo/EFO_0007114 node EFO_0009471 small kidney null http://www.ebi.ac.uk/efo/EFO_0009471 node MONDO_0015657 inflammatory and autoimmune disease with epilepsy null http://purl.obolibrary.org/obo/MONDO_0015657 node EFO_1002008 atypical teratoid rhabdoid tumor null http://www.ebi.ac.uk/efo/EFO_1002008 node Orphanet_2229 Dilated cardiomyopathy - hypergonadotropic hypogonadism null http://www.orpha.net/ORDO/Orphanet_2229 node Orphanet_255 Dopa-responsive dystonia null http://www.orpha.net/ORDO/Orphanet_255 node EFO_0008369 infant intracranial volume measurement null http://www.ebi.ac.uk/efo/EFO_0008369 node EFO_0009284 chloride measurement null http://www.ebi.ac.uk/efo/EFO_0009284 node Orphanet_268388 Lumbosacral spina bifida aperta null http://www.orpha.net/ORDO/Orphanet_268388 node Orphanet_2364 Glycogen storage disease due to lactate dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_2364 node EFO_0009988 MARGI null http://www.ebi.ac.uk/efo/EFO_0009988 node PO_0009032 petal The often showy flower component attached just inside the sepals; petals are usually colorful to attract pollinators. http://purl.obolibrary.org/obo/PO_0009032 node EFO_0003682 obsolete_regeneration epithelium null http://www.ebi.ac.uk/efo/EFO_0003682 node EFO_0002755 diet null http://www.ebi.ac.uk/efo/EFO_0002755 node MONDO_0031012 autoimmune uveitis null http://purl.obolibrary.org/obo/MONDO_0031012 node EFO_0007202 cervical incompetence null http://www.ebi.ac.uk/efo/EFO_0007202 node EFO_0002684 obsolete_pupa null http://www.ebi.ac.uk/efo/EFO_0002684 node Orphanet_343 Hyperimmunoglobulinemia D with periodic fever null http://www.orpha.net/ORDO/Orphanet_343 node EFO_0009372 response to ketogenic diet null http://www.ebi.ac.uk/efo/EFO_0009372 node Orphanet_93437 Acromesomelic dysplasia null http://www.orpha.net/ORDO/Orphanet_93437 node MONDO_0020841 neurodevelopmental disorder with cerebellar atrophy and with or without seizures null http://purl.obolibrary.org/obo/MONDO_0020841 node HP_0000364 Hearing abnormality According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear. http://purl.obolibrary.org/obo/HP_0000364 node CLO_0013839 GM17201 null http://purl.obolibrary.org/obo/CLO_0013839 node EFO_0007447 Pneumocystis infectious disease null http://www.ebi.ac.uk/efo/EFO_0007447 node MONDO_0003661 breast lymphoma null http://purl.obolibrary.org/obo/MONDO_0003661 node CLO_0028103 GM15590 null http://purl.obolibrary.org/obo/CLO_0028103 node CL_0002020 GlyA-positive reticulocytes Markers is associated with human cells. http://purl.obolibrary.org/obo/CL_0002020 node MONDO_0002076 pneumothorax (disease) null http://purl.obolibrary.org/obo/MONDO_0002076 node Orphanet_140462 X-linked recessive hereditary axonal motor and sensory neuropathy null http://www.orpha.net/ORDO/Orphanet_140462 node MONDO_0003604 functioning pituitary gland neoplasm null http://purl.obolibrary.org/obo/MONDO_0003604 node Orphanet_98086 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue null http://www.orpha.net/ORDO/Orphanet_98086 node EFO_0003770 diabetic retinopathy null http://www.ebi.ac.uk/efo/EFO_0003770 node ZFA_0001104 pharyngeal endoderm null http://purl.obolibrary.org/obo/ZFA_0001104 node NCBITaxon_8730 Crotalus atrox null http://purl.obolibrary.org/obo/NCBITaxon_8730 node EFO_0001024 obsolete_flower structure null http://www.ebi.ac.uk/efo/EFO_0001024 node CHEBI_24913 isoprenoid null http://purl.obolibrary.org/obo/CHEBI_24913 node Orphanet_88660 Pseudohyperaldosteronism type 2 null http://www.orpha.net/ORDO/Orphanet_88660 node CHEBI_6078 ivermectin null http://purl.obolibrary.org/obo/CHEBI_6078 node EFO_0003371 obsolete_embryonic inner optic lobe primordium null http://www.ebi.ac.uk/efo/EFO_0003371 node BTO_0002690 biofilm null http://purl.obolibrary.org/obo/BTO_0002690 node Orphanet_652 Multiple endocrine neoplasia type 1 null http://www.orpha.net/ORDO/Orphanet_652 node EFO_0003835 anal neoplasm null http://www.ebi.ac.uk/efo/EFO_0003835 node MONDO_0021192 odontogenic neoplasm null http://purl.obolibrary.org/obo/MONDO_0021192 node Orphanet_177929 Symptomatic form of hemophilia B in female carriers null http://www.orpha.net/ORDO/Orphanet_177929 node Orphanet_447 Paroxysmal nocturnal hemoglobinuria null http://www.orpha.net/ORDO/Orphanet_447 node Japan Japan null http://dbpedia.org/resource/Japan node Orphanet_294983 Acheiria null http://www.orpha.net/ORDO/Orphanet_294983 node EFO_0010910 C-C motif chemokine 20 measurement null http://www.ebi.ac.uk/efo/EFO_0010910 node Orphanet_138050 Pierre Robin syndrome associated with branchial archs anomalies null http://www.orpha.net/ORDO/Orphanet_138050 node CHEBI_16914 salicylic acid null http://purl.obolibrary.org/obo/CHEBI_16914 node EFO_0007418 paragonimiasis null http://www.ebi.ac.uk/efo/EFO_0007418 node CL_0000949 IgD plasmablast null http://purl.obolibrary.org/obo/CL_0000949 node EFO_0003923 bone density null http://www.ebi.ac.uk/efo/EFO_0003923 node MONDO_0021280 mucoepidermoid carcinoma of parotid gland null http://purl.obolibrary.org/obo/MONDO_0021280 node OBI_0000869 polyA RNA null http://purl.obolibrary.org/obo/OBI_0000869 node NCBITaxon_1140 Synechococcus elongatus PCC 7942 null http://purl.obolibrary.org/obo/NCBITaxon_1140 node PO_0001170 seed development stage Includes the stages of seed development, from fertilization to the dry or quiescent state. May have as part an embryo development stage. http://purl.obolibrary.org/obo/PO_0001170 node CHEBI_74767 Pro-Hyp null http://purl.obolibrary.org/obo/CHEBI_74767 node EFO_0002578 lung endoderm null http://www.ebi.ac.uk/efo/EFO_0002578 node EFO_0010419 triacylglycerol 54:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010419 node CL_0000556 megakaryocyte Megakaryocytes are reportedly CD181-positive and CD182-positive. http://purl.obolibrary.org/obo/CL_0000556 node MONDO_0021340 intertrigo null http://purl.obolibrary.org/obo/MONDO_0021340 node HP_0011090 Fused teeth null http://purl.obolibrary.org/obo/HP_0011090 node EFO_0004138 bundle branch block null http://www.ebi.ac.uk/efo/EFO_0004138 node Orphanet_1806 Ectodermal dysplasia - blindness null http://www.orpha.net/ORDO/Orphanet_1806 node EFO_0000833 obsolete_tongue null http://www.ebi.ac.uk/efo/EFO_0000833 node EFO_0004536 total blood protein measurement null http://www.ebi.ac.uk/efo/EFO_0004536 node UBERON_0004908 upper digestive tract null http://purl.obolibrary.org/obo/UBERON_0004908 node EFO_0000646 obsolete_percent oxygen concentration null http://www.ebi.ac.uk/efo/EFO_0000646 node Orphanet_284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency null http://www.orpha.net/ORDO/Orphanet_284426 node MONDO_0003680 periosteal chondrosarcoma null http://purl.obolibrary.org/obo/MONDO_0003680 node EFO_0004359 telomere null http://www.ebi.ac.uk/efo/EFO_0004359 node EFO_0010026 RESA?CLIP null http://www.ebi.ac.uk/efo/EFO_0010026 node EFO_0010507 lactose measurement null http://www.ebi.ac.uk/efo/EFO_0010507 node NCBITaxon_69891 Trichophyton soudanense null http://purl.obolibrary.org/obo/NCBITaxon_69891 node HP_0002039 Anorexia Note that this term does not refer to the condition anorexia nervosa (A disorder characterized by an obsessive desire to lose weight by refusing to eat). http://purl.obolibrary.org/obo/HP_0002039 node NCBITaxon_727 Haemophilus influenzae null http://purl.obolibrary.org/obo/NCBITaxon_727 node MONDO_0018775 axonal hereditary motor and sensory neuropathy null http://purl.obolibrary.org/obo/MONDO_0018775 node EFO_0000440 obsolete_embryonic brain null http://www.ebi.ac.uk/efo/EFO_0000440 node Orphanet_85164 Camptodactyly - tall stature - scoliosis - hearing loss null http://www.orpha.net/ORDO/Orphanet_85164 node CHEBI_42471 forskolin null http://purl.obolibrary.org/obo/CHEBI_42471 node Orphanet_1342 Heart-hand syndrome type 3 null http://www.orpha.net/ORDO/Orphanet_1342 node EFO_1001121 prediabetes syndrome null http://www.ebi.ac.uk/efo/EFO_1001121 node EFO_0008956 SUPeR-seq null http://www.ebi.ac.uk/efo/EFO_0008956 node EFO_0004039 mouse neural progenitor cell null http://www.ebi.ac.uk/efo/EFO_0004039 node EFO_0005551 dysembryoplastic neuroepithelial tumor null http://www.ebi.ac.uk/efo/EFO_0005551 node EFO_0004624 prostate specific antigen measurement null http://www.ebi.ac.uk/efo/EFO_0004624 node EFO_0000253 amyotrophic lateral sclerosis null http://www.ebi.ac.uk/efo/EFO_0000253 node EFO_1000017 autosomal recessive disease https://www.nlm.nih.gov/medlineplus/ency/article/002052.htm http://www.ebi.ac.uk/efo/EFO_1000017 node EFO_0000734 vitamin B12 deficiency null http://www.ebi.ac.uk/efo/EFO_0000734 node HP_0000769 Abnormality of the breast null http://purl.obolibrary.org/obo/HP_0000769 node Orphanet_1155 Arthrogryposis due to muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_1155 node EFO_0004447 peer review quality control role null http://www.ebi.ac.uk/efo/EFO_0004447 node EFO_0010114 citrate measurement null http://www.ebi.ac.uk/efo/EFO_0010114 node EFO_0007293 haemonchiasis null http://www.ebi.ac.uk/efo/EFO_0007293 node HP_0002304 Akinesia Akinesia is a typical extrapyramidal abnormality. http://purl.obolibrary.org/obo/HP_0002304 node CHEBI_28241 papaverine null http://purl.obolibrary.org/obo/CHEBI_28241 node HP_0002127 Abnormal upper motor neuron morphology previous def: 'has part' some (quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal)) http://purl.obolibrary.org/obo/HP_0002127 node Orphanet_86913 Myoclonic epilepsy in non-progressive encephalopathies null http://www.orpha.net/ORDO/Orphanet_86913 node HP_0040079 Irregular dentition null http://purl.obolibrary.org/obo/HP_0040079 node EFO_0007997 granulocyte percentage of myeloid white cells null http://www.ebi.ac.uk/efo/EFO_0007997 node MONDO_0018700 pseudohypoparathyroidism without Albright hereditary osteodystrophy null http://purl.obolibrary.org/obo/MONDO_0018700 node EFO_0005076 spotted double stranded DNA reporter null http://www.ebi.ac.uk/efo/EFO_0005076 node EFO_0004712 podoconiosis null http://www.ebi.ac.uk/efo/EFO_0004712 node CLO_0016493 GM17796 null http://purl.obolibrary.org/obo/CLO_0016493 node EFO_0000341 chronic obstructive pulmonary disease null http://www.ebi.ac.uk/efo/EFO_0000341 node Orphanet_178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita null http://www.orpha.net/ORDO/Orphanet_178148 node EFO_1001022 low tension glaucoma null http://www.ebi.ac.uk/efo/EFO_1001022 node MONDO_0018010 juvenile idiopathic inflammatory myopathy null http://purl.obolibrary.org/obo/MONDO_0018010 node Orphanet_1243 Best vitelliform macular dystrophy null http://www.orpha.net/ORDO/Orphanet_1243 node UBERON_2000033 intermediate cell mass of mesoderm null http://purl.obolibrary.org/obo/UBERON_2000033 node MONDO_0000952 cancer of long bone of lower limb null http://purl.obolibrary.org/obo/MONDO_0000952 node EFO_0005452 SF295 null http://www.ebi.ac.uk/efo/EFO_0005452 node MONDO_0024880 metastatic malignant neoplasm Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. http://purl.obolibrary.org/obo/MONDO_0024880 node CHEBI_4315 danazol null http://purl.obolibrary.org/obo/CHEBI_4315 node HP_0001597 Abnormality of the nail Abnormality of the fingernails and/or toenails. http://purl.obolibrary.org/obo/HP_0001597 node NCBITaxon_35523 Daphnia pulicaria null http://purl.obolibrary.org/obo/NCBITaxon_35523 node EFO_0007194 Cardiovirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007194 node NCBITaxon_49274 Lycopersicon null http://purl.obolibrary.org/obo/NCBITaxon_49274 node GO_0008219 cell death null http://purl.obolibrary.org/obo/GO_0008219 node Orphanet_79316 Phosphoenolpyruvate carboxykinase 1 deficiency null http://www.orpha.net/ORDO/Orphanet_79316 node Orphanet_3451 West syndrome Editor note: check placement of OMIM IDs and EIEE subtypes http://www.orpha.net/ORDO/Orphanet_3451 node EFO_0008927 SLAF-Seq null http://www.ebi.ac.uk/efo/EFO_0008927 node CHEBI_17050 3-phosphoglyceric acid null http://purl.obolibrary.org/obo/CHEBI_17050 node Orphanet_101977 Immunodeficiency predominantly affecting antibody production null http://www.orpha.net/ORDO/Orphanet_101977 node MONDO_0024282 mucinous ovarian cancer null http://purl.obolibrary.org/obo/MONDO_0024282 node EFO_0009894 carbamazepine-induced hyponatremia null http://www.ebi.ac.uk/efo/EFO_0009894 node Orphanet_2769 Familial osteodysplasia, Anderson type null http://www.orpha.net/ORDO/Orphanet_2769 node Orphanet_75381 Cystoid macular dystrophy null http://www.orpha.net/ORDO/Orphanet_75381 node Orphanet_79404 Junctional epidermolysis bullosa, Herlitz type null http://www.orpha.net/ORDO/Orphanet_79404 node Orphanet_324410 X-linked intellectual disability - cardiomegaly - congestive heart failure null http://www.orpha.net/ORDO/Orphanet_324410 node EFO_0001193 HT-29 null http://www.ebi.ac.uk/efo/EFO_0001193 node EFO_0007711 Platyhelminthes life stage null http://www.ebi.ac.uk/efo/EFO_0007711 node Orphanet_139396 X-linked cerebral adrenoleukodystrophy null http://www.orpha.net/ORDO/Orphanet_139396 node EFO_0001657 lateral null http://www.ebi.ac.uk/efo/EFO_0001657 node Orphanet_100016 Lissencephaly with cerebellar hypoplasia type F null http://www.orpha.net/ORDO/Orphanet_100016 node EFO_1000878 constrictive pericarditis null http://www.ebi.ac.uk/efo/EFO_1000878 node Orphanet_309020 Familial apolipoprotein C-II deficiency null http://www.orpha.net/ORDO/Orphanet_309020 node MONDO_0015917 malignant glioma null http://purl.obolibrary.org/obo/MONDO_0015917 node Orphanet_216445 Prelingual non-syndromic genetic deafness null http://www.orpha.net/ORDO/Orphanet_216445 node Orphanet_261776 Partial deletion of chromosome 3 null http://www.orpha.net/ORDO/Orphanet_261776 node MONDO_0014919 sessile serrated polyposis cancer syndrome null http://purl.obolibrary.org/obo/MONDO_0014919 node Orphanet_969 Acromicric dysplasia null http://www.orpha.net/ORDO/Orphanet_969 node EFO_0008546 poisoning null http://www.ebi.ac.uk/efo/EFO_0008546 node MONDO_0020379 early-onset zonular cataract null http://purl.obolibrary.org/obo/MONDO_0020379 node EFO_0001281 blastula oblong null http://www.ebi.ac.uk/efo/EFO_0001281 node Orphanet_93583 Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency null http://www.orpha.net/ORDO/Orphanet_93583 node EFO_1001937 amelanotic melanoma null http://www.ebi.ac.uk/efo/EFO_1001937 node EFO_0001745 cell type comparison design null http://www.ebi.ac.uk/efo/EFO_0001745 node EFO_1000966 hepatic vein thrombosis null http://www.ebi.ac.uk/efo/EFO_1000966 node GO_0045822 negative regulation of heart contraction null http://purl.obolibrary.org/obo/GO_0045822 node NCBITaxon_1392 Bacillus anthracis null http://purl.obolibrary.org/obo/NCBITaxon_1392 node MONDO_0002722 olfactory nerve neoplasm null http://purl.obolibrary.org/obo/MONDO_0002722 node Orphanet_262001 Partial deletion of the long arm of chromosome 1 null http://www.orpha.net/ORDO/Orphanet_262001 node EFO_1000099 Atypical Lipomatous Tumor null http://www.ebi.ac.uk/efo/EFO_1000099 node Orphanet_98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 null http://www.orpha.net/ORDO/Orphanet_98754 node EFO_1000497 Prolactin-Producing Pituitary Gland Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000497 node Orphanet_163976 X-linked intellectual disability, Van Esch type null http://www.orpha.net/ORDO/Orphanet_163976 node Orphanet_295154 Polydactyly of an index finger, bilateral null http://www.orpha.net/ORDO/Orphanet_295154 node MONDO_0003606 adrenal medulla cancer null http://purl.obolibrary.org/obo/MONDO_0003606 node EFO_1000206 Conjunctival Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000206 node Orphanet_276152 Multiple endocrine neoplasia type 4 null http://www.orpha.net/ORDO/Orphanet_276152 node HP_0003154 Increased circulating ACTH level null http://purl.obolibrary.org/obo/HP_0003154 node EFO_0009180 rosacea severity measurement null http://www.ebi.ac.uk/efo/EFO_0009180 node EFO_0003709 obsolete_vascular cord null http://www.ebi.ac.uk/efo/EFO_0003709 node NCBITaxon_139650 Teleopsis quinqueguttata null http://purl.obolibrary.org/obo/NCBITaxon_139650 node MONDO_0016784 gestational trophoblastic disease Grouping for hydatidiform mole and gestational trophoblastic neoplasm http://purl.obolibrary.org/obo/MONDO_0016784 node Orphanet_1825 Epiphyseal dysplasia - hearing loss - dysmorphism null http://www.orpha.net/ORDO/Orphanet_1825 node EFO_1000585 Thyroglossal Duct Cyst null http://www.ebi.ac.uk/efo/EFO_1000585 node GO_0031981 nuclear lumen null http://purl.obolibrary.org/obo/GO_0031981 node EFO_1001908 phobic disorder null http://www.ebi.ac.uk/efo/EFO_1001908 node EFO_0005857 mouse embryo stage null http://www.ebi.ac.uk/efo/EFO_0005857 node UBERON_0002536 arthropod sensillum null http://purl.obolibrary.org/obo/UBERON_0002536 node EFO_0005167 Bla-1 null http://www.ebi.ac.uk/efo/EFO_0005167 node CHEBI_36234 chenodeoxycholate null http://purl.obolibrary.org/obo/CHEBI_36234 node Orphanet_45 Adenosine monophosphate deaminase deficiency null http://www.orpha.net/ORDO/Orphanet_45 node EFO_0006778 YAPC null http://www.ebi.ac.uk/efo/EFO_0006778 node EFO_0003373 obsolete_fat body primordium null http://www.ebi.ac.uk/efo/EFO_0003373 node EFO_0009809 single nucleus sequencing null http://www.ebi.ac.uk/efo/EFO_0009809 node EFO_0004420 genome null http://www.ebi.ac.uk/efo/EFO_0004420 node EFO_0002269 NCI-H187 null http://www.ebi.ac.uk/efo/EFO_0002269 node MONDO_0021109 inverted urothelial papilloma null http://purl.obolibrary.org/obo/MONDO_0021109 node EFO_0009063 Wolfram-like syndrome null http://www.ebi.ac.uk/efo/EFO_0009063 node EFO_1000107 Benign Brain Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000107 node GO_0040013 negative regulation of locomotion null http://purl.obolibrary.org/obo/GO_0040013 node Orphanet_300536 DDOST-CDG null http://www.orpha.net/ORDO/Orphanet_300536 node NCBITaxon_349123 Lactobacillus reuteri 100-23 null http://purl.obolibrary.org/obo/NCBITaxon_349123 node CLO_0021597 AG11364 null http://purl.obolibrary.org/obo/CLO_0021597 node EFO_0006866 electrodermal activity measurement null http://www.ebi.ac.uk/efo/EFO_0006866 node CLO_0016672 GM17792 null http://purl.obolibrary.org/obo/CLO_0016672 node EFO_0003461 obsolete_anterior lateral line placode null http://www.ebi.ac.uk/efo/EFO_0003461 node NCBITaxon_1219 Prochlorococcus marinus null http://purl.obolibrary.org/obo/NCBITaxon_1219 node EFO_0004303 vital signs null http://www.ebi.ac.uk/efo/EFO_0004303 node EFO_0002357 SUDHL6 null http://www.ebi.ac.uk/efo/EFO_0002357 node OBI_0200169 normalization data transformation null http://purl.obolibrary.org/obo/OBI_0200169 node HP_0012735 Cough The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). There is agreement that an actue cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. http://purl.obolibrary.org/obo/HP_0012735 node Orphanet_33574 Gamma-glutamylcysteine synthetase deficiency null http://www.orpha.net/ORDO/Orphanet_33574 node Orphanet_228308 Carnitine palmitoyl transferase II deficiency, neonatal form null http://www.orpha.net/ORDO/Orphanet_228308 node EFO_0006749 SCLC-21H null http://www.ebi.ac.uk/efo/EFO_0006749 node NCBITaxon_1307 Streptococcus suis null http://purl.obolibrary.org/obo/NCBITaxon_1307 node NCBITaxon_7962 Cyprinus carpio null http://purl.obolibrary.org/obo/NCBITaxon_7962 node EFO_0010898 mesothelial cell of large intestine null http://www.ebi.ac.uk/efo/EFO_0010898 node Orphanet_101083 Charcot-Marie-Tooth disease type 1C null http://www.orpha.net/ORDO/Orphanet_101083 node CHEBI_27641 cycloheximide null http://purl.obolibrary.org/obo/CHEBI_27641 node UBERON_0007297 presumptive pronephric mesoderm null http://purl.obolibrary.org/obo/UBERON_0007297 node NCBITaxon_41411 Eurotium chevalieri null http://purl.obolibrary.org/obo/NCBITaxon_41411 node Orphanet_324569 Pontocerebellar hypoplasia type 8 null http://www.orpha.net/ORDO/Orphanet_324569 node Orphanet_324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation null http://www.orpha.net/ORDO/Orphanet_324611 node EFO_0008735 FACS-seq null http://www.ebi.ac.uk/efo/EFO_0008735 node EFO_0006356 501A null http://www.ebi.ac.uk/efo/EFO_0006356 node EFO_0000032 CS57610 null http://www.ebi.ac.uk/efo/EFO_0000032 node MONDO_0014776 spinocerebellar ataxia type 42 null http://purl.obolibrary.org/obo/MONDO_0014776 node MONDO_0000263 laryngotracheitis null http://purl.obolibrary.org/obo/MONDO_0000263 node Orphanet_96059 Mosaic trisomy 4 null http://www.orpha.net/ORDO/Orphanet_96059 node CHEBI_30045 divanadium pentaoxide null http://purl.obolibrary.org/obo/CHEBI_30045 node EFO_0004010 wild-derived inbred strain null http://www.ebi.ac.uk/efo/EFO_0004010 node Orphanet_34516 Autosomal dominant limb-girdle muscular dystrophy type 1D Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3 http://www.orpha.net/ORDO/Orphanet_34516 node Orphanet_64542 Acrofacial dysostosis, Kennedy-Teebi type null http://www.orpha.net/ORDO/Orphanet_64542 node EFO_1000686 dermatosis papulosa nigra null http://www.ebi.ac.uk/efo/EFO_1000686 node EFO_0009585 AQP4-IgG-negative neuromyelitis optica null http://www.ebi.ac.uk/efo/EFO_0009585 node EFO_0008636 Illumina MiniSeq null http://www.ebi.ac.uk/efo/EFO_0008636 node Orphanet_96147 Kleefstra syndrome due to 9q34 microdeletion null http://www.orpha.net/ORDO/Orphanet_96147 node Orphanet_183503 Genetic central nervous system and retinal vascular disease null http://www.orpha.net/ORDO/Orphanet_183503 node FBbt_00005616 embryonic foregut sensory structure null http://purl.obolibrary.org/obo/FBbt_00005616 node HP_0009907 Attached earlobe The earlobe does not have a dependent portion. http://purl.obolibrary.org/obo/HP_0009907 node Orphanet_331223 Hyper-IgE syndrome null http://www.orpha.net/ORDO/Orphanet_331223 node EFO_0005078 spotted single stranded DNA PCR amplicon reporter null http://www.ebi.ac.uk/efo/EFO_0005078 node MONDO_0000544 mucosal melanoma null http://purl.obolibrary.org/obo/MONDO_0000544 node CLO_0016495 GM17802 null http://purl.obolibrary.org/obo/CLO_0016495 node UBERON_0000453 decidua basalis null http://purl.obolibrary.org/obo/UBERON_0000453 node Orphanet_391474 Frontorhiny null http://www.orpha.net/ORDO/Orphanet_391474 node NCBITaxon_246200 Ruegeria pomeroyi DSS-3 null http://purl.obolibrary.org/obo/NCBITaxon_246200 node GO_0051726 regulation of cell cycle null http://purl.obolibrary.org/obo/GO_0051726 node Orphanet_2934 Polysyndactyly - cardiac malformation null http://www.orpha.net/ORDO/Orphanet_2934 node Orphanet_1104 Anophthalmia plus syndrome null http://www.orpha.net/ORDO/Orphanet_1104 node Orphanet_157769 Situs ambiguus null http://www.orpha.net/ORDO/Orphanet_157769 node EFO_1000774 vesiculobullous skin disease null http://www.ebi.ac.uk/efo/EFO_1000774 node Orphanet_254925 Combined oxidative phosphorylation defect type 4 null http://www.orpha.net/ORDO/Orphanet_254925 node EFO_0006471 pancreatic tubular adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0006471 node EFO_0009673 laryngeal disease null http://www.ebi.ac.uk/efo/EFO_0009673 node Orphanet_370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome null http://www.orpha.net/ORDO/Orphanet_370943 node Orphanet_217085 Mucopolysaccharidosis type 2, severe form null http://www.orpha.net/ORDO/Orphanet_217085 node MONDO_0000632 uterine benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0000632 node Orphanet_98610 Rare conjunctival disease null http://www.orpha.net/ORDO/Orphanet_98610 node EFO_0008031 aspartate aminotransferase, cytoplasmic measurement null http://www.ebi.ac.uk/efo/EFO_0008031 node EFO_0009896 anti-thyroglobulin antibody measurement null http://www.ebi.ac.uk/efo/EFO_0009896 node EFO_1000657 rectum cancer null http://www.ebi.ac.uk/efo/EFO_1000657 node EFO_1000381 Mixed Epithelial Stromal Tumor of the Kidney null http://www.ebi.ac.uk/efo/EFO_1000381 node EFO_0003866 paranasal sinus neoplasm null http://www.ebi.ac.uk/efo/EFO_0003866 node EFO_0004783 TEMPS-A questionnaire null http://www.ebi.ac.uk/efo/EFO_0004783 node EFO_1000176 Chordoid Meningioma null http://www.ebi.ac.uk/efo/EFO_1000176 node EFO_0008252 OCIA domain-containing protein 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008252 node PO_0009029 stamen The floral organ that produces pollen; consisting of an anther and filament. http://purl.obolibrary.org/obo/PO_0009029 node CHEBI_64194 paroxetine maleate null http://purl.obolibrary.org/obo/CHEBI_64194 node UBERON_0001285 nephron null http://purl.obolibrary.org/obo/UBERON_0001285 node BTO_0000152 infected cell null http://purl.obolibrary.org/obo/BTO_0000152 node EFO_0003679 obsolete_pineal complex null http://www.ebi.ac.uk/efo/EFO_0003679 node EFO_0007303 hepatitis E virus infection null http://www.ebi.ac.uk/efo/EFO_0007303 node Orphanet_1005 Alopecia-contractures-dwarfism-intellectual disability syndrome null http://www.orpha.net/ORDO/Orphanet_1005 node MONDO_0001029 Klippel-Feil syndrome Usage notes: this class includes both isolated forms and forms that are features of other syndromes http://purl.obolibrary.org/obo/MONDO_0001029 node Orphanet_156215 Oromandibular-limb anomalies syndrome null http://www.orpha.net/ORDO/Orphanet_156215 node Orphanet_137681 Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 null http://www.orpha.net/ORDO/Orphanet_137681 node EFO_0001195 IMR-32 null http://www.ebi.ac.uk/efo/EFO_0001195 node EFO_0002242 MV4II null http://www.ebi.ac.uk/efo/EFO_0002242 node EFO_0001315 segmentation stage null http://www.ebi.ac.uk/efo/EFO_0001315 node EFO_0001138 GM12146 null http://www.ebi.ac.uk/efo/EFO_0001138 node Orphanet_748 Mendelian susceptibility to mycobacterial diseases null http://www.orpha.net/ORDO/Orphanet_748 node Orphanet_64 Alström syndrome null http://www.orpha.net/ORDO/Orphanet_64 node EFO_1000441 Pancreatic Glucagonoma null http://www.ebi.ac.uk/efo/EFO_1000441 node NCBITaxon_338187 Vibrio harveyi ATCC BAA-1116 null http://purl.obolibrary.org/obo/NCBITaxon_338187 node EFO_0009779 tri-iodothyronine/thyroxine ratio measurement null http://www.ebi.ac.uk/efo/EFO_0009779 node Orphanet_280379 Erythropoietic uroporphyria associated with myeloid malignancy null http://www.orpha.net/ORDO/Orphanet_280379 node EFO_1000264 Gallbladder Adenosquamous Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000264 node EFO_0009821 seeing a psychiatrist for nerves, anxiety, tension or depression, self-reported null http://www.ebi.ac.uk/efo/EFO_0009821 node EFO_0008340 fear of minor pain measurement null http://www.ebi.ac.uk/efo/EFO_0008340 node CHEBI_23366 compatible osmolytes role null http://purl.obolibrary.org/obo/CHEBI_23366 node HP_0003231 Hypertyrosinemia Defect in fumarylacetoacetase. http://purl.obolibrary.org/obo/HP_0003231 node EFO_0003390 obsolete_embryonic Malpighian tubule tip cell null http://www.ebi.ac.uk/efo/EFO_0003390 node UBERON_2001391 anterior lateral line ganglion null http://purl.obolibrary.org/obo/UBERON_2001391 node EFO_0002944 nucleic acid extraction protocol null http://www.ebi.ac.uk/efo/EFO_0002944 node EFO_0003767 inflammatory bowel disease null http://www.ebi.ac.uk/efo/EFO_0003767 node MONDO_0009505 lactic aciduria due to D-lactic acid null http://purl.obolibrary.org/obo/MONDO_0009505 node Orphanet_100989 Autosomal dominant spastic paraplegia type 8 null http://www.orpha.net/ORDO/Orphanet_100989 node MONDO_0001117 methemoglobinemia null http://purl.obolibrary.org/obo/MONDO_0001117 node CHEBI_64576 lysophosphatidylethanolamine 18:0 null http://purl.obolibrary.org/obo/CHEBI_64576 node EFO_0001283 blastula sphere null http://www.ebi.ac.uk/efo/EFO_0001283 node EFO_0002330 SJSA1 null http://www.ebi.ac.uk/efo/EFO_0002330 node EFO_0002125 CAL54 null http://www.ebi.ac.uk/efo/EFO_0002125 node MONDO_0021553 transverse myelitis null http://purl.obolibrary.org/obo/MONDO_0021553 node EFO_1000070 Adenofibroma null http://www.ebi.ac.uk/efo/EFO_1000070 node UBERON_0001389 soleus muscle null http://purl.obolibrary.org/obo/UBERON_0001389 node MONDO_0003265 adjustment disorder null http://purl.obolibrary.org/obo/MONDO_0003265 node Orphanet_183497 Genetic neuromuscular disease null http://www.orpha.net/ORDO/Orphanet_183497 node Orphanet_281090 Syndromic X-linked ichthyosis null http://www.orpha.net/ORDO/Orphanet_281090 node MONDO_0021366 neoplasm of middle ear null http://purl.obolibrary.org/obo/MONDO_0021366 node Orphanet_399775 Male infertility with spermatogenesis disorder null http://www.orpha.net/ORDO/Orphanet_399775 node MONDO_0021189 intestinal motility disease null http://purl.obolibrary.org/obo/MONDO_0021189 node Orphanet_649 Norrie disease null http://www.orpha.net/ORDO/Orphanet_649 node Orphanet_271870 Rare genetic systemic or rheumatologic disease null http://www.orpha.net/ORDO/Orphanet_271870 node CHEBI_64165 clobenpropit dihydrobromide null http://purl.obolibrary.org/obo/CHEBI_64165 node EFO_0002827 LC-1F null http://www.ebi.ac.uk/efo/EFO_0002827 node EFO_0000859 obsolete_salivary gland null http://www.ebi.ac.uk/efo/EFO_0000859 node MONDO_0043579 enteritis null http://purl.obolibrary.org/obo/MONDO_0043579 node EFO_0004111 obsolete_seq file type flag null http://www.ebi.ac.uk/efo/EFO_0004111 node CHEBI_28874 phosphatidylinositol null http://purl.obolibrary.org/obo/CHEBI_28874 node UBERON_0002581 postcentral gyrus null http://purl.obolibrary.org/obo/UBERON_0002581 node Orphanet_2619 Brachydactylous dwarfism, Mseleni type null http://www.orpha.net/ORDO/Orphanet_2619 node NCBITaxon_31870 Colletotrichum graminicola null http://purl.obolibrary.org/obo/NCBITaxon_31870 node Orphanet_2050 Cole-Carpenter syndrome null http://www.orpha.net/ORDO/Orphanet_2050 node MONDO_0003353 heart leiomyosarcoma null http://purl.obolibrary.org/obo/MONDO_0003353 node MONDO_0021454 benign neoplasm of eye null http://purl.obolibrary.org/obo/MONDO_0021454 node CLO_0014392 GM17252 null http://purl.obolibrary.org/obo/CLO_0014392 node EFO_0002611 obsolete_hereditary breast and ovarian cancer null http://www.ebi.ac.uk/efo/EFO_0002611 node HP_0007663 Reduced visual acuity null http://purl.obolibrary.org/obo/HP_0007663 node NCBITaxon_257758 Streptococcus pseudopneumoniae null http://purl.obolibrary.org/obo/NCBITaxon_257758 node HP_0006150 Swan neck-like deformities of the fingers null http://purl.obolibrary.org/obo/HP_0006150 node EFO_0002915 obsolete_rectal carcinoma null http://www.ebi.ac.uk/efo/EFO_0002915 node EFO_0000947 obsolete_pelvic girdle null http://www.ebi.ac.uk/efo/EFO_0000947 node PO_0025131 plant anatomical entity Includes both material entities such as plant structures and immaterial entities such as plant anatomical spaces. CARO:0000000 anatomical entity is defined as: Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. http://purl.obolibrary.org/obo/PO_0025131 node CHEBI_28680 cytarabine null http://purl.obolibrary.org/obo/CHEBI_28680 node EFO_0006557 COV413A null http://www.ebi.ac.uk/efo/EFO_0006557 node Orphanet_94068 Spondyloepiphyseal dysplasia congenita null http://www.orpha.net/ORDO/Orphanet_94068 node NCBITaxon_12282 Tobacco ringspot virus null http://purl.obolibrary.org/obo/NCBITaxon_12282 node UBERON_0002538 hatching gland null http://purl.obolibrary.org/obo/UBERON_0002538 node Orphanet_324581 Benign Samaritan congenital myopathy null http://www.orpha.net/ORDO/Orphanet_324581 node EFO_0004012 mating type F null http://www.ebi.ac.uk/efo/EFO_0004012 node EFO_0003063 polymyositis null http://www.ebi.ac.uk/efo/EFO_0003063 node Orphanet_1509 Coxopodopatellar syndrome null http://www.orpha.net/ORDO/Orphanet_1509 node MONDO_0025445 Wieacker-Wolff syndrome (spectrum) Grouping for the X-linked form seen mostly in males and female-restricted http://purl.obolibrary.org/obo/MONDO_0025445 node CHEBI_42567 fisetin null http://purl.obolibrary.org/obo/CHEBI_42567 node EFO_0002522 BTBR mouse null http://www.ebi.ac.uk/efo/EFO_0002522 node EFO_0000554 irradiate null http://www.ebi.ac.uk/efo/EFO_0000554 node EFO_1001235 Vibrio infectious disease null http://www.ebi.ac.uk/efo/EFO_1001235 node CL_0000873 splenic metallophillic macrophage Markers: Mouse: F4/80-, Dectin2-low, sialoadhesin+. http://purl.obolibrary.org/obo/CL_0000873 node OBI_0001442 p-value null http://purl.obolibrary.org/obo/OBI_0001442 node Orphanet_85278 Christianson syndrome null http://www.orpha.net/ORDO/Orphanet_85278 node EFO_0005665 white matter hyperintensity measurement null http://www.ebi.ac.uk/efo/EFO_0005665 node EFO_0004738 tocopherol measurement null http://www.ebi.ac.uk/efo/EFO_0004738 node HP_0000202 Oral cleft null http://purl.obolibrary.org/obo/HP_0000202 node EFO_0007970 estrone measurement null http://www.ebi.ac.uk/efo/EFO_0007970 node MONDO_0017954 pyogenic autoinflammatory syndrome null http://purl.obolibrary.org/obo/MONDO_0017954 node CLO_0014336 GM17236 null http://purl.obolibrary.org/obo/CLO_0014336 node Orphanet_1495 Intellectual disability - hypoplastic corpus callosum - preauricular tag null http://www.orpha.net/ORDO/Orphanet_1495 node EFO_0000437 embryonal rhabdomyosarcoma null http://www.ebi.ac.uk/efo/EFO_0000437 node Orphanet_363528 Intellectual disability-strabismus syndrome null http://www.orpha.net/ORDO/Orphanet_363528 node EFO_1001323 Eye Injuries, Penetrating null http://www.ebi.ac.uk/efo/EFO_1001323 node EFO_1001118 posterior cerebral artery infarction null http://www.ebi.ac.uk/efo/EFO_1001118 node CL_0000961 Bm1 B cell These cells are also reportedly CD10-negative, CD39-positive, CD44-positive, CD71-negative, CD77-negative, IgM-positive, IgG-negative, IgA-negative, and IgE-negative. http://purl.obolibrary.org/obo/CL_0000961 node Orphanet_331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency null http://www.orpha.net/ORDO/Orphanet_331176 node EFO_0005548 developmental disorder of mental health null http://www.ebi.ac.uk/efo/EFO_0005548 node EFO_0010196 inferred cell type null http://www.ebi.ac.uk/efo/EFO_0010196 node EFO_0007495 St. Louis encephalitis null http://www.ebi.ac.uk/efo/EFO_0007495 node NCBITaxon_13037 Danaus plexippus null http://purl.obolibrary.org/obo/NCBITaxon_13037 node CLO_0035579 AG07307 null http://purl.obolibrary.org/obo/CLO_0035579 node EFO_0008900 RRBS null http://www.ebi.ac.uk/efo/EFO_0008900 node EFO_0003007 ILSXISS112/TejJ null http://www.ebi.ac.uk/efo/EFO_0003007 node Orphanet_98811 Paroxysmal exertion-induced dyskinesia null http://www.orpha.net/ORDO/Orphanet_98811 node UO_0000044 attomole null http://purl.obolibrary.org/obo/UO_0000044 node NCBITaxon_49225 Triticum dicoccon null http://purl.obolibrary.org/obo/NCBITaxon_49225 node EFO_0005636 ATC Code C Cardiovascular system C CARDIOVASCULAR SYSTEM C01 CARDIAC THERAPY C02 ANTIHYPERTENSIVES See also C03 - Diuretics, C07 - Beta blocking agents, C08 - Calcium channel blockers and C09 - Agents acting on the renin-angiotensin system. Antihypertensives are mainly classified at 3rd levels according to the mechanism of action. Most headings are self-explanatory: C02A Antiadrenergic agents, centrally acting C02B Antiadrenergic agents, ganglion-blocking C02C Antiadrenergic agents, peripherally acting C02D Arteriolar smooth muscle, agents acting on C02K Other antihypertensives C02L Antihypertensives and diuretics in combination C02N Combinations of antihypertensives in ATC gr. C02 The oral DDDs are based on the average doses needed to reduce the blood pressure to a normal level in patients with mild-moderate hypertension. Parenteral DDDs are based on dosages used for the treatment of hypertensive crises and are based on the content of the active ingredient pr. vial (ampoule). C03 DIURETICS This group comprises diuretics, plain and in combination with potassium or other agents. Vasopressin antagonists are also included in this group. Potassium-sparing agents are classified in C03D and C03E. Combinations with digitalis glycosides, see C01AA. Combinations with antihypertensives, see C02L - Antihypertensives and diuretics in combination. Combinations with beta blocking agents, see C07B - C07D. Combinations with calcium channel blockers, see C08. Combinations with agents acting on the renin angiotensin system, see C09B and C09D. The DDDs for diuretics are based on monotherapy. Most diuretics are used both for the treatment of edema and hypertension in similar doses and the DDDs are therefore based on both indications. The DDDs for combinations correspond to the DDD for the diuretic component, except for ATC group C03E, see comments under this level. C04 PERIPHERAL VASODILATORS C05 VASOPROTECTIVES No DDDs are established in this group, since most of the drugs in this group are for topical use. C07 BETA BLOCKING AGENTS C08 CALCIUM CHANNEL BLOCKERS The calcium channel blockers are classified according to selectivity of calcium channel activity and direct cardiac effects. The ATC 4th levels are subdivided according to chemical structure. Combinations with ergot alkaloids (C04AE) are classified in this group by using the 50-series. Combinations with diuretics are classified in C08G. Combinations with ACE inhibitors are classified in C09BB. Combinations with beta blocking agents are classified in C07F. The DDDs for calcium channel blockers are based on the treatment of mild-moderate hypertension, although some are used for other indications (e.g. angina pectoris). The DDDs for oral and parenteral preparations are equal and are based on the oral dose, since oral preparations represent the major fraction of the total consumption. C09 AGENTS ACTING ON THE RENIN-ANGIOTENSIN SYSTEM The DDDs are based on the treatment of mild-moderate hypertension. See comments to C02L concerning the principles for assignment of DDDs for combined preparations. C10 LIPID MODIFYING AGENTS The DDDs are based on the treatment of hypercholesterolemia. http://www.ebi.ac.uk/efo/EFO_0005636 node EFO_0004709 obsolete_orofacial cleft null http://www.ebi.ac.uk/efo/EFO_0004709 node Orphanet_268397 Cervicothoracic spina bifida aperta null http://www.orpha.net/ORDO/Orphanet_268397 node Orphanet_2560 Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism null http://www.orpha.net/ORDO/Orphanet_2560 node MONDO_0001879 anus cancer null http://purl.obolibrary.org/obo/MONDO_0001879 node HP_0004372 Reduced consciousness/confusion null http://purl.obolibrary.org/obo/HP_0004372 node Orphanet_79153 Autosomal dominant nail dysplasia null http://www.orpha.net/ORDO/Orphanet_79153 node EFO_0010303 fourth ventricle volume measurement null http://www.ebi.ac.uk/efo/EFO_0010303 node CL_0001024 CD34-positive, CD38-negative hematopoietic stem cell Cell markers are associated with human hematopoietic stem cells. Originally described in the dendritic cell ontology (DC_CL:0000035)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001024 node EFO_0009750 dissociation measurement null http://www.ebi.ac.uk/efo/EFO_0009750 node MONDO_0044203 foveal hypoplasia null http://purl.obolibrary.org/obo/MONDO_0044203 node EFO_0009499 HCEC 2CT null http://www.ebi.ac.uk/efo/EFO_0009499 node MONDO_0003454 conjunctival cancer null http://purl.obolibrary.org/obo/MONDO_0003454 node MONDO_0002527 keratoacanthoma null http://purl.obolibrary.org/obo/MONDO_0002527 node Orphanet_293948 1p21.3 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_293948 node EFO_0002693 DNA-seq null http://www.ebi.ac.uk/efo/EFO_0002693 node EFO_0007643 embryonic day 10.5 null http://www.ebi.ac.uk/efo/EFO_0007643 node NCBITaxon_5306 Phanerochaete chrysosporium null http://purl.obolibrary.org/obo/NCBITaxon_5306 node Orphanet_2461 Marden-Walker syndrome null http://www.orpha.net/ORDO/Orphanet_2461 node Orphanet_760 Purine nucleoside phosphorylase deficiency null http://www.orpha.net/ORDO/Orphanet_760 node MONDO_0024321 disorder of GPI anchor biosynthesis May be inborn or somatic http://purl.obolibrary.org/obo/MONDO_0024321 node GO_0042747 circadian sleep/wake cycle, REM sleep null http://purl.obolibrary.org/obo/GO_0042747 node Orphanet_199276 Familial multiple lipomatosis null http://www.orpha.net/ORDO/Orphanet_199276 node GO_0009408 response to heat Request per JIRA: FGPTO-1025 with term ref - PMID:26359986 http://purl.obolibrary.org/obo/GO_0009408 node EFO_0008791 MAF null http://www.ebi.ac.uk/efo/EFO_0008791 node MONDO_0001087 schizotypal personality disorder null http://purl.obolibrary.org/obo/MONDO_0001087 node EFO_0009587 anhedonia measurement null http://www.ebi.ac.uk/efo/EFO_0009587 node Orphanet_216804 Osteogenesis imperfecta type 2 null http://www.orpha.net/ORDO/Orphanet_216804 node Orphanet_294953 Limb overgrowth null http://www.orpha.net/ORDO/Orphanet_294953 node MONDO_0002615 xanthomatosis (disease) null http://purl.obolibrary.org/obo/MONDO_0002615 node EFO_0007708 t-tau:beta-amyloid 1-42 ratio measurement null http://www.ebi.ac.uk/efo/EFO_0007708 node Orphanet_2713 Oculoosteocutaneous syndrome null http://www.orpha.net/ORDO/Orphanet_2713 node EFO_0002781 chorion cell line null http://www.ebi.ac.uk/efo/EFO_0002781 node EFO_0002800 SAEC null http://www.ebi.ac.uk/efo/EFO_0002800 node EO_0007207 red light regimen null http://purl.obolibrary.org/obo/EO_0007207 node MONDO_0026767 immunodeficiency 74, covid19-related, x-linked null http://purl.obolibrary.org/obo/MONDO_0026767 node Orphanet_356947 3q26q27 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_356947 node NCBITaxon_7741 Branchiostoma belcheri null http://purl.obolibrary.org/obo/NCBITaxon_7741 node NCBITaxon_486041 Laccaria bicolor S238N-H82 null http://purl.obolibrary.org/obo/NCBITaxon_486041 node CL_0000980 plasmablast This cell type is compatible with the HIPC Lyoplate markers for 'plasmablast'. Plasmablasts are also reportedly CD48-positive, CD63-positive, CD229-positive, CD270-positive, CD319-positive, CD352-positive, CD361-positive, and IgD-negative. http://purl.obolibrary.org/obo/CL_0000980 node EFO_0009675 melanocytic nevus null http://www.ebi.ac.uk/efo/EFO_0009675 node HP_0000682 Abnormality of dental enamel The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite. http://purl.obolibrary.org/obo/HP_0000682 node EFO_0008104 cystatin-F measurement null http://www.ebi.ac.uk/efo/EFO_0008104 node EFO_0004562 cryptorchidism null http://www.ebi.ac.uk/efo/EFO_0004562 node EFO_0006310 obsolete_hyperopia null http://www.ebi.ac.uk/efo/EFO_0006310 node EFO_0007106 iPS-18b null http://www.ebi.ac.uk/efo/EFO_0007106 node Orphanet_103909 Diarrhea-vomiting due to trehalase deficiency null http://www.orpha.net/ORDO/Orphanet_103909 node CHEBI_17823 calcitriol null http://purl.obolibrary.org/obo/CHEBI_17823 node HP_0002089 Pulmonary hypoplasia null http://purl.obolibrary.org/obo/HP_0002089 node NCBITaxon_352374 Populus fremontii x Populus angustifolia null http://purl.obolibrary.org/obo/NCBITaxon_352374 node EFO_0009276 ventricular ectopy null http://www.ebi.ac.uk/efo/EFO_0009276 node NCBITaxon_32499 Julidochromis marlieri null http://purl.obolibrary.org/obo/NCBITaxon_32499 node MONDO_0016735 papillary glioneuronal tumor null http://purl.obolibrary.org/obo/MONDO_0016735 node HP_0003010 Prolonged bleeding time The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes. http://purl.obolibrary.org/obo/HP_0003010 node Orphanet_363717 Alexander disease type I null http://www.orpha.net/ORDO/Orphanet_363717 node Orphanet_102013 Complex hereditary spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_102013 node BTO_0001903 logarithmic phase culture null http://purl.obolibrary.org/obo/BTO_0001903 node EFO_0003487 obsolete_apical ectodermal ridge pectoral fin bud null http://www.ebi.ac.uk/efo/EFO_0003487 node NCBITaxon_2 Bacteria null http://purl.obolibrary.org/obo/NCBITaxon_2 node Orphanet_99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J null http://www.orpha.net/ORDO/Orphanet_99943 node Orphanet_3237 Multiple synostoses syndrome null http://www.orpha.net/ORDO/Orphanet_3237 node EFO_0009364 non-allergic rhinitis null http://www.ebi.ac.uk/efo/EFO_0009364 node CHEBI_77225 (7Z,10Z,13Z,16Z)-docosatetraenoate null http://purl.obolibrary.org/obo/CHEBI_77225 node EFO_0009177 myopic maculopathy severity measurement null http://www.ebi.ac.uk/efo/EFO_0009177 node CHEBI_88003 fructose 6-phosphate null http://purl.obolibrary.org/obo/CHEBI_88003 node CHEBI_45951 trifluoperazine null http://purl.obolibrary.org/obo/CHEBI_45951 node HP_0001010 Hypopigmentation of the skin null http://purl.obolibrary.org/obo/HP_0001010 node CHEBI_6888 6alpha-methylprednisolone null http://purl.obolibrary.org/obo/CHEBI_6888 node UBERON_0000055 vessel null http://purl.obolibrary.org/obo/UBERON_0000055 node EFO_0000638 overall survival null http://www.ebi.ac.uk/efo/EFO_0000638 node Orphanet_3021 RAPADILINO syndrome null http://www.orpha.net/ORDO/Orphanet_3021 node EFO_1000072 Adenomatoid Odontogenic Tumor null http://www.ebi.ac.uk/efo/EFO_1000072 node HP_0011142 Age-related nuclear cataract As the lens ages, new layers of fibres are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly. http://purl.obolibrary.org/obo/HP_0011142 node EFO_0003575 obsolete_infraorbital lateral line neuromast null http://www.ebi.ac.uk/efo/EFO_0003575 node EFO_0004417 amide null http://www.ebi.ac.uk/efo/EFO_0004417 node CHEBI_90305 triacylglycerol 54:1 null http://purl.obolibrary.org/obo/CHEBI_90305 node MONDO_0041850 pneumonia caused by gram negative bacteria null http://purl.obolibrary.org/obo/MONDO_0041850 node Orphanet_363618 LMNA-related cardiocutaneous progeria syndrome null http://www.orpha.net/ORDO/Orphanet_363618 node CHEBI_73018 tiglylglycine null http://purl.obolibrary.org/obo/CHEBI_73018 node Orphanet_3138 Ulnar-mammary syndrome null http://www.orpha.net/ORDO/Orphanet_3138 node EFO_0006722 OVCA432 null http://www.ebi.ac.uk/efo/EFO_0006722 node EFO_0010871 HG03139 null http://www.ebi.ac.uk/efo/EFO_0010871 node EFO_0000245 obsolete_adult muscle precursor primordium null http://www.ebi.ac.uk/efo/EFO_0000245 node EFO_0010666 airway submucosal gland Made as a placeholder for AE anatomagrams, term should be requested in UBERON. http://www.ebi.ac.uk/efo/EFO_0010666 node UBERON_0002703 precentral gyrus null http://purl.obolibrary.org/obo/UBERON_0002703 node NCBITaxon_5786 Dictyostelium purpureum null http://purl.obolibrary.org/obo/NCBITaxon_5786 node CLO_0031236 GM14433 null http://purl.obolibrary.org/obo/CLO_0031236 node CHEBI_64525 phosphatidylcholine 38:5 null http://purl.obolibrary.org/obo/CHEBI_64525 node EFO_0005356 CAL120 null http://www.ebi.ac.uk/efo/EFO_0005356 node CLO_0014394 GM17258 null http://purl.obolibrary.org/obo/CLO_0014394 node EFO_0003458 obsolete_vagal placode 3 null http://www.ebi.ac.uk/efo/EFO_0003458 node EFO_0004505 telomere length null http://www.ebi.ac.uk/efo/EFO_0004505 node EFO_0010052 response to tacrolimus null http://www.ebi.ac.uk/efo/EFO_0010052 node EFO_0008408 susceptibility to strep throat measurement null http://www.ebi.ac.uk/efo/EFO_0008408 node MONDO_0045056 grade II meningioma null http://purl.obolibrary.org/obo/MONDO_0045056 node MONDO_0021138 bone marrow cancer null http://purl.obolibrary.org/obo/MONDO_0021138 node NCBITaxon_82378 Amphiura filiformis null http://purl.obolibrary.org/obo/NCBITaxon_82378 node EFO_0010450 3-phosphoglyceric acid null http://www.ebi.ac.uk/efo/EFO_0010450 node EFO_0006810 oleic acid measurement null http://www.ebi.ac.uk/efo/EFO_0006810 node UBERON_0003079 floor plate null http://purl.obolibrary.org/obo/UBERON_0003079 node HP_0011451 Congenital microcephaly null http://purl.obolibrary.org/obo/HP_0011451 node EFO_0010273 thoracic aortic calcification measurement null http://www.ebi.ac.uk/efo/EFO_0010273 node EFO_0000333 chondrosarcoma null http://www.ebi.ac.uk/efo/EFO_0000333 node EFO_0007572 HCS image acquistion and feature extraction protocol null http://www.ebi.ac.uk/efo/EFO_0007572 node EFO_0010754 barcode offset null http://www.ebi.ac.uk/efo/EFO_0010754 node CL_0000171 pancreatic A cell null http://purl.obolibrary.org/obo/CL_0000171 node EFO_1001014 leukemoid reaction Represents a finding, may be obsoleted. http://www.ebi.ac.uk/efo/EFO_1001014 node EFO_0005444 OVCAR8 null http://www.ebi.ac.uk/efo/EFO_0005444 node EFO_0003065 obsolete_foot null http://www.ebi.ac.uk/efo/EFO_0003065 node EFO_0000146 CS57854 null http://www.ebi.ac.uk/efo/EFO_0000146 node EFO_0007878 alcohol consumption measurement null http://www.ebi.ac.uk/efo/EFO_0007878 node Orphanet_1660 Dermo-odonto dysplasia null http://www.orpha.net/ORDO/Orphanet_1660 node HANCESTRO_0304 ancestry status null http://purl.obolibrary.org/obo/HANCESTRO_0304 node EFO_0005257 response to anthracycline-based chemotherapy null http://www.ebi.ac.uk/efo/EFO_0005257 node EFO_1000359 Malignant Pancreatic Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000359 node PO_0007115 LP.04 four leaves visible stage null http://purl.obolibrary.org/obo/PO_0007115 node EFO_0001970 obsolete_myometrium null http://www.ebi.ac.uk/efo/EFO_0001970 node CHEBI_8364 prazosin null http://purl.obolibrary.org/obo/CHEBI_8364 node EFO_0010361 lysophosphatidylcholine 18:2 measurement null http://www.ebi.ac.uk/efo/EFO_0010361 node EFO_0007660 neuroticism measurement null http://www.ebi.ac.uk/efo/EFO_0007660 node UBERON_0001869 cerebral hemisphere null http://purl.obolibrary.org/obo/UBERON_0001869 node MONDO_0000437 cerebellar ataxia In ORDO this is called rare ataxia, we rename as ataxia since all forms are individually rare http://purl.obolibrary.org/obo/MONDO_0000437 node UBERON_0006763 epithelium of conjunctiva null http://purl.obolibrary.org/obo/UBERON_0006763 node HP_0009926 Epiphora Epiphora or tearing is the presence of a watering eye, which is a common complaint for referrals to oculoplastics clinics for evaluation. The etiology of tearing can be divided into two categories: reflex tearing and reduced tear outflow. Reflex tearing is usually secondary to dry eye, inflammation, allergy or other ocular surface disorders, whereas primary hypersecretion of the lacrimal glands is rare. Reduced tear outflow is due to eyelid malposition, tear pump dysfunction caused by eyelid laxity, or obstruction at any portion of the nasaolacrimal drainage system. http://purl.obolibrary.org/obo/HP_0009926 node Orphanet_95712 Thyroid ectopia null http://www.orpha.net/ORDO/Orphanet_95712 node EFO_0005029 anti-H3k4-3Me null http://www.ebi.ac.uk/efo/EFO_0005029 node EFO_0005111 folic acid measurement null http://www.ebi.ac.uk/efo/EFO_0005111 node EFO_0007497 staphyloenterotoxemia null http://www.ebi.ac.uk/efo/EFO_0007497 node EFO_0008339 fear of medical pain measurement null http://www.ebi.ac.uk/efo/EFO_0008339 node Orphanet_268994 Isolated focal cortical dysplasia type II null http://www.orpha.net/ORDO/Orphanet_268994 node Orphanet_99177 Isolated distichiasis null http://www.orpha.net/ORDO/Orphanet_99177 node Orphanet_2866 Short stature - deafness - neutrophil dysfunction - dysmorphism null http://www.orpha.net/ORDO/Orphanet_2866 node GO_0060454 positive regulation of gastric acid secretion null http://purl.obolibrary.org/obo/GO_0060454 node MONDO_0001673 diarrheal disease null http://purl.obolibrary.org/obo/MONDO_0001673 node EFO_0007098 iPS DF 6.9 null http://www.ebi.ac.uk/efo/EFO_0007098 node EFO_1001875 amyloidosis Editor note: in DO this is classified as acquired metabolic, but contains familial subtypes http://www.ebi.ac.uk/efo/EFO_1001875 node EFO_1002012 ligament rupture null http://www.ebi.ac.uk/efo/EFO_1002012 node Orphanet_2233 Hypogonadism - mitral valve prolapse - intellectual disability null http://www.orpha.net/ORDO/Orphanet_2233 node Orphanet_2028 Juvenile hyaline fibromatosis null http://www.orpha.net/ORDO/Orphanet_2028 node Orphanet_55595 Autosomal dominant limb-girdle muscular dystrophy type 1F null http://www.orpha.net/ORDO/Orphanet_55595 node CHEBI_53486 all-cis-icosa-8,11,14-trienoic acid null http://purl.obolibrary.org/obo/CHEBI_53486 node MONDO_0019004 kidney Wilms tumor null http://purl.obolibrary.org/obo/MONDO_0019004 node HP_0003738 Exercise-induced myalgia null http://purl.obolibrary.org/obo/HP_0003738 node MONDO_0024263 neonatal aspiration syndrome Editor note: TODO axiomatize using ECTO http://purl.obolibrary.org/obo/MONDO_0024263 node EFO_0009752 visuospatial impairment null http://www.ebi.ac.uk/efo/EFO_0009752 node Orphanet_79651 Mild hyperphenylalaninemia null http://www.orpha.net/ORDO/Orphanet_79651 node Orphanet_157808 Congenital pseudoarthrosis of the limbs null http://www.orpha.net/ORDO/Orphanet_157808 node EFO_0008184 interleukin 4 measurement null http://www.ebi.ac.uk/efo/EFO_0008184 node MONDO_0002529 skin squamous cell carcinoma null http://purl.obolibrary.org/obo/MONDO_0002529 node Orphanet_98692 Nervous system anomaly with eye involvement null http://www.orpha.net/ORDO/Orphanet_98692 node EFO_0007186 bulbar polio null http://www.ebi.ac.uk/efo/EFO_0007186 node EFO_1001482 cardiotoxicity null http://www.ebi.ac.uk/efo/EFO_1001482 node Orphanet_199 Cornelia de Lange syndrome null http://www.orpha.net/ORDO/Orphanet_199 node EFO_1001963 ovarian mucinous cystadenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1001963 node EFO_0004985 platelet reactivity measurement null http://www.ebi.ac.uk/efo/EFO_0004985 node EFO_0008888 RepeatSeq null http://www.ebi.ac.uk/efo/EFO_0008888 node EFO_1000378 Middle Ear Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000378 node Orphanet_2116 Hartnup disease null http://www.orpha.net/ORDO/Orphanet_2116 node Orphanet_209967 Episodic ataxia type 6 null http://www.orpha.net/ORDO/Orphanet_209967 node EFO_0009840 tachypnea null http://www.ebi.ac.uk/efo/EFO_0009840 node HP_0003826 Stillbirth null http://purl.obolibrary.org/obo/HP_0003826 node EFO_0002426 neoplasm of mature T-cells or NK-cells null http://www.ebi.ac.uk/efo/EFO_0002426 node MONDO_0008648 ventricular tachycardia, familial null http://purl.obolibrary.org/obo/MONDO_0008648 node UBERON_0006314 bodily fluid null http://purl.obolibrary.org/obo/UBERON_0006314 node EFO_1000800 alcohol withdrawal delirium null http://www.ebi.ac.uk/efo/EFO_1000800 node EFO_0001397 obsolete_inguinal region null http://www.ebi.ac.uk/efo/EFO_0001397 node EFO_0002239 MOLT16 null http://www.ebi.ac.uk/efo/EFO_0002239 node GO_0009167 purine ribonucleoside monophosphate metabolic process null http://purl.obolibrary.org/obo/GO_0009167 node Orphanet_317416 T-B+ severe combined immunodeficiency Editor note: add logical definition http://www.orpha.net/ORDO/Orphanet_317416 node MONDO_0003403 testicular non-seminomatous germ cell cancer Editor note: TODO owldef http://purl.obolibrary.org/obo/MONDO_0003403 node HP_0100256 Senile plaques Senile plaques can be found in human and animal brains. From an age of 60 years (10%) to an age of 80 years (60%) the proportion of people with plaques increases approximately linearly. A small number of plaques can be due to the physiological process of aging. Women are slightly more likely to have plaques than males. The plaques occur commonly in the amygdoid nucleus and the sulci of the cortex of brain. The deposits are associated with degenerative neural structures and an abundance of microglia and astrocytes. Large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimers disease, and some of the abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles. In Alzheimer's disease they are primarily composed of amyloid beta peptides. These polypeptides tend to aggregate and are believed to be neurotoxic. http://purl.obolibrary.org/obo/HP_0100256 node NCBITaxon_152331 Lactobacillus parabuchneri null http://purl.obolibrary.org/obo/NCBITaxon_152331 node HP_0000504 Abnormality of vision null http://purl.obolibrary.org/obo/HP_0000504 node Orphanet_26792 Short chain acyl-CoA dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_26792 node EFO_0009441 Waldenstrom macroglobulinemia PMID:30305637 http://www.ebi.ac.uk/efo/EFO_0009441 node Orphanet_171629 Autosomal recessive spastic paraplegia type 35 null http://www.orpha.net/ORDO/Orphanet_171629 node EFO_0009818 nap during day, self-reported null http://www.ebi.ac.uk/efo/EFO_0009818 node CHEBI_26711 sodium cholate null http://purl.obolibrary.org/obo/CHEBI_26711 node EFO_0009128 enzymatic dissociation null http://www.ebi.ac.uk/efo/EFO_0009128 node EFO_1001791 femoral hernia null http://www.ebi.ac.uk/efo/EFO_1001791 node Orphanet_75327 North Carolina macular dystrophy null http://www.orpha.net/ORDO/Orphanet_75327 node EFO_0002327 SH4 null http://www.ebi.ac.uk/efo/EFO_0002327 node NCBITaxon_186539 Reston ebolavirus null http://purl.obolibrary.org/obo/NCBITaxon_186539 node EFO_0000696 shear stressing null http://www.ebi.ac.uk/efo/EFO_0000696 node EFO_1000630 marginal zone B-cell lymphoma null http://www.ebi.ac.uk/efo/EFO_1000630 node Orphanet_370980 Congenital muscular dystrophy without intellectual disability null http://www.orpha.net/ORDO/Orphanet_370980 node CHEBI_36314 glycerophosphoethanolamine null http://purl.obolibrary.org/obo/CHEBI_36314 node EFO_0002548 obsolete_endothelium null http://www.ebi.ac.uk/efo/EFO_0002548 node EFO_0000398 dermatomyositis null http://www.ebi.ac.uk/efo/EFO_0000398 node CHEBI_37054 3-hydroxybutyrate null http://purl.obolibrary.org/obo/CHEBI_37054 node EFO_0003266 neuromedin U null http://www.ebi.ac.uk/efo/EFO_0003266 node EFO_0004108 obsolete_Atlas experiment type null http://www.ebi.ac.uk/efo/EFO_0004108 node CHEBI_16731 cinnamaldehyde null http://purl.obolibrary.org/obo/CHEBI_16731 node CHEBI_6550 loxtidine null http://purl.obolibrary.org/obo/CHEBI_6550 node CHEBI_33229 vitamin null http://purl.obolibrary.org/obo/CHEBI_33229 node EFO_0003740 assay by sequencer null http://www.ebi.ac.uk/efo/EFO_0003740 node Orphanet_352 Galactosemia null http://www.orpha.net/ORDO/Orphanet_352 node MONDO_0060527 maleylacetoacetate isomerase deficiency null http://purl.obolibrary.org/obo/MONDO_0060527 node EFO_0005300 word reading null http://www.ebi.ac.uk/efo/EFO_0005300 node Orphanet_79278 Erythropoietic protoporphyria null http://www.orpha.net/ORDO/Orphanet_79278 node MONDO_0002492 acute kidney failure null http://purl.obolibrary.org/obo/MONDO_0002492 node PO_0006023 bundle sheath null http://purl.obolibrary.org/obo/PO_0006023 node EFO_0000410 disease staging null http://www.ebi.ac.uk/efo/EFO_0000410 node Orphanet_1768 Familial caudal dysgenesis null http://www.orpha.net/ORDO/Orphanet_1768 node EFO_0005521 technology type null http://www.ebi.ac.uk/efo/EFO_0005521 node Orphanet_211240 Genetic vascular anomaly null http://www.orpha.net/ORDO/Orphanet_211240 node EFO_0005849 serum lipase activity measurement null http://www.ebi.ac.uk/efo/EFO_0005849 node EFO_0010469 carnitine measurement null http://www.ebi.ac.uk/efo/EFO_0010469 node Orphanet_79366 Isolated hair shaft abnormality null http://www.orpha.net/ORDO/Orphanet_79366 node Orphanet_254788 Maternally-inherited mitochondrial myopathy null http://www.orpha.net/ORDO/Orphanet_254788 node MONDO_0002580 orbit rhabdomyosarcoma null http://purl.obolibrary.org/obo/MONDO_0002580 node Orphanet_308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form null http://www.orpha.net/ORDO/Orphanet_308670 node NCBITaxon_731 Histophilus somni null http://purl.obolibrary.org/obo/NCBITaxon_731 node MONDO_0014405 STING-associated vasculopathy with onset in infancy null http://purl.obolibrary.org/obo/MONDO_0014405 node MONDO_0000701 ischemic colitis null http://purl.obolibrary.org/obo/MONDO_0000701 node Orphanet_79179 Disorder of glycerol metabolism null http://www.orpha.net/ORDO/Orphanet_79179 node CL_0002154 early promyelocyte null http://purl.obolibrary.org/obo/CL_0002154 node Orphanet_1856 Spondyloperipheral dysplasia - short ulna null http://www.orpha.net/ORDO/Orphanet_1856 node EFO_0007967 blood osmolality measurement null http://www.ebi.ac.uk/efo/EFO_0007967 node GO_0061478 response to platelet aggregation inhibitor Awaiting import from GO http://purl.obolibrary.org/obo/GO_0061478 node HANCESTRO_0010 African null http://purl.obolibrary.org/obo/HANCESTRO_0010 node MONDO_0060649 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies null http://purl.obolibrary.org/obo/MONDO_0060649 node Orphanet_93622 Dent disease type 1 null http://www.orpha.net/ORDO/Orphanet_93622 node CHEBI_32362 heptanoate null http://purl.obolibrary.org/obo/CHEBI_32362 node Orphanet_84064 Syndromic diarrhea null http://www.orpha.net/ORDO/Orphanet_84064 node Orphanet_71213 Retinal cavernous hemangioma null http://www.orpha.net/ORDO/Orphanet_71213 node NCBITaxon_28147 Salmonella enterica subsp. enterica serovar Oranienburg null http://purl.obolibrary.org/obo/NCBITaxon_28147 node CL_0000477 ovarian follicle cell Editors note: check this. Currently used in goxp http://purl.obolibrary.org/obo/CL_0000477 node Orphanet_295105 Apodia, unilateral null http://www.orpha.net/ORDO/Orphanet_295105 node NCBITaxon_158 Treponema denticola null http://purl.obolibrary.org/obo/NCBITaxon_158 node CL_0000958 T1 B cell T1 B cells are also reportedly CD10-negative/positive??, CD20-positive, CD24-positive, CD38-positive, CD48-positive, CD84-positive, CD150-positive, CD244-negative, and CD352-positive. http://purl.obolibrary.org/obo/CL_0000958 node Orphanet_295016 Camptodactyly of fingers null http://www.orpha.net/ORDO/Orphanet_295016 node EFO_0007761 docosahexaenoic acid measurement null http://www.ebi.ac.uk/efo/EFO_0007761 node Orphanet_470 Lysinuric protein intolerance null http://www.orpha.net/ORDO/Orphanet_470 node EFO_0008596 chylomicron measurement null http://www.ebi.ac.uk/efo/EFO_0008596 node Orphanet_314621 Duplication of the pituitary gland null http://www.orpha.net/ORDO/Orphanet_314621 node NCBITaxon_351534 Ptomaphagus null http://purl.obolibrary.org/obo/NCBITaxon_351534 node EFO_0007574 blood toxic metal measurement null http://www.ebi.ac.uk/efo/EFO_0007574 node Orphanet_157965 Ehlers-Danlos syndrome, spondylocheirodysplastic type null http://www.orpha.net/ORDO/Orphanet_157965 node NCBITaxon_632 Yersinia pestis null http://purl.obolibrary.org/obo/NCBITaxon_632 node Orphanet_98808 Autosomal dominant dopa-responsive dystonia null http://www.orpha.net/ORDO/Orphanet_98808 node NCBITaxon_115828 Streptomyces maritimus null http://purl.obolibrary.org/obo/NCBITaxon_115828 node EFO_0002994 ILSXISS84/TejJ null http://www.ebi.ac.uk/efo/EFO_0002994 node EFO_0000007 CS57537 null http://www.ebi.ac.uk/efo/EFO_0000007 node EFO_0007739 left superior temporal gyrus thickness measurement null http://www.ebi.ac.uk/efo/EFO_0007739 node MONDO_0021228 brainstem neoplasm null http://purl.obolibrary.org/obo/MONDO_0021228 node CHEBI_75062 1-myristoyl-2-palmitoyl-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_75062 node Orphanet_2557 Mietens syndrome null http://www.orpha.net/ORDO/Orphanet_2557 node GO_0006939 smooth muscle contraction null http://purl.obolibrary.org/obo/GO_0006939 node MONDO_0024622 thyroid gland adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0024622 node CL_0002125 CD27-negative gamma-delta T cell null http://purl.obolibrary.org/obo/CL_0002125 node Orphanet_98602 Rare lacrimal system disease null http://www.orpha.net/ORDO/Orphanet_98602 node EFO_0007662 response to triptolide null http://www.ebi.ac.uk/efo/EFO_0007662 node Orphanet_101090 Hyper-IgM syndrome type 3 null http://www.orpha.net/ORDO/Orphanet_101090 node UBERON_0015423 hilar portion of hepatic duct null http://purl.obolibrary.org/obo/UBERON_0015423 node Orphanet_98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia null http://www.orpha.net/ORDO/Orphanet_98415 node CL_0002346 Dx5-negative, NK1.1-positive immature natural killer cell, mouse null http://purl.obolibrary.org/obo/CL_0002346 node EFO_0004588 obsolete_gamma glutamyl transpeptidase measurement null http://www.ebi.ac.uk/efo/EFO_0004588 node EFO_0005206 oligoclonal band measurement null http://www.ebi.ac.uk/efo/EFO_0005206 node Orphanet_156224 Paralytic facial malformation null http://www.orpha.net/ORDO/Orphanet_156224 node Orphanet_2645 Osteoglophonic dwarfism null http://www.orpha.net/ORDO/Orphanet_2645 node MONDO_0024505 disorder by anatomical region null http://purl.obolibrary.org/obo/MONDO_0024505 node Orphanet_757 Pseudohypoaldosteronism type 2 null http://www.orpha.net/ORDO/Orphanet_757 node FBbt_00016001 hypopharyngeal sense organ primordium null http://purl.obolibrary.org/obo/FBbt_00016001 node EFO_0001076 Pseudomonas infection null http://www.ebi.ac.uk/efo/EFO_0001076 node Orphanet_329481 Lipoprotein glomerulopathy null http://www.orpha.net/ORDO/Orphanet_329481 node EFO_0001661 proximal null http://www.ebi.ac.uk/efo/EFO_0001661 node EFO_0000492 obsolete_familial combined hyperlipidemia null http://www.ebi.ac.uk/efo/EFO_0000492 node EFO_1001173 secondary hyperparathyroidism null http://www.ebi.ac.uk/efo/EFO_1001173 node CL_0002434 CD24-positive, CD8 single-positive thymocyte Described in the immgene database as being CD24-intermediate. http://purl.obolibrary.org/obo/CL_0002434 node EFO_0004676 obsolete_response to diruetic null http://www.ebi.ac.uk/efo/EFO_0004676 node EFO_0009626 pyloric stenosis null http://www.ebi.ac.uk/efo/EFO_0009626 node EFO_0007351 lymphangitis null http://www.ebi.ac.uk/efo/EFO_0007351 node MONDO_0033946 hereditary angioedema with C1Inh deficiency null http://purl.obolibrary.org/obo/MONDO_0033946 node NCBITaxon_121540 Senecio aethnensis null http://purl.obolibrary.org/obo/NCBITaxon_121540 node CHEBI_24621 hormone null http://purl.obolibrary.org/obo/CHEBI_24621 node CLO_0023784 GM10842 null http://purl.obolibrary.org/obo/CLO_0023784 node Orphanet_845 Tay-Sachs disease null http://www.orpha.net/ORDO/Orphanet_845 node MONDO_0003257 posterior pituitary gland neoplasm null http://purl.obolibrary.org/obo/MONDO_0003257 node HP_0010771 Pilonidal abscess null http://purl.obolibrary.org/obo/HP_0010771 node Orphanet_281082 Inherited non-syndromic ichthyosis null http://www.orpha.net/ORDO/Orphanet_281082 node EFO_0009205 Corpuscular Hemoglobin Content null http://www.ebi.ac.uk/efo/EFO_0009205 node Orphanet_207085 Qualitative or quantitative defects of dystrophin null http://www.orpha.net/ORDO/Orphanet_207085 node EFO_1001261 Alien Hand Syndrome null http://www.ebi.ac.uk/efo/EFO_1001261 node EFO_0007259 epidemic pleurodynia null http://www.ebi.ac.uk/efo/EFO_0007259 node CHEBI_29108 calcium(2+) null http://purl.obolibrary.org/obo/CHEBI_29108 node EFO_0004764 adipose tissue measurement null http://www.ebi.ac.uk/efo/EFO_0004764 node MONDO_0020702 autosomal dominant epidermolytic ichthyosis null http://purl.obolibrary.org/obo/MONDO_0020702 node MONDO_0001214 acute conjunctivitis null http://purl.obolibrary.org/obo/MONDO_0001214 node EFO_0006307 UKE1 null http://www.ebi.ac.uk/efo/EFO_0006307 node EFO_0009509 limb injury null http://www.ebi.ac.uk/efo/EFO_0009509 node HP_0003124 Hypercholesterolemia null http://purl.obolibrary.org/obo/HP_0003124 node EFO_0003122 NCI-H2287 null http://www.ebi.ac.uk/efo/EFO_0003122 node MONDO_0042976 vitamin B deficiency null http://purl.obolibrary.org/obo/MONDO_0042976 node UBERON_0003889 fallopian tube null http://purl.obolibrary.org/obo/UBERON_0003889 node UBERON_0002386 forelimb zeugopod null http://purl.obolibrary.org/obo/UBERON_0002386 node EFO_1001343 Hemangioma, Cavernous, Central Nervous System null http://www.ebi.ac.uk/efo/EFO_1001343 node EFO_0002603 obsolete_proximal portion of right coronary artery null http://www.ebi.ac.uk/efo/EFO_0002603 node NCBITaxon_46472 Aspergillus versicolor null http://purl.obolibrary.org/obo/NCBITaxon_46472 node CHEBI_114785 erlotinib null http://purl.obolibrary.org/obo/CHEBI_114785 node EFO_1001824 pinguecula null http://www.ebi.ac.uk/efo/EFO_1001824 node MONDO_0020284 heart position anomaly null http://purl.obolibrary.org/obo/MONDO_0020284 node MONDO_0003158 malignant myoepithelioma null http://purl.obolibrary.org/obo/MONDO_0003158 node EFO_0003343 obsolete_ventral ectoderm anlage null http://www.ebi.ac.uk/efo/EFO_0003343 node EFO_0000956 obsolete_nail null http://www.ebi.ac.uk/efo/EFO_0000956 node GO_0036272 response to gemcitabine null http://purl.obolibrary.org/obo/GO_0036272 node Orphanet_181412 Adrenogenital syndrome null http://www.orpha.net/ORDO/Orphanet_181412 node NCBITaxon_3641 Theobroma cacao null http://purl.obolibrary.org/obo/NCBITaxon_3641 node EFO_0001948 shoot component null http://www.ebi.ac.uk/efo/EFO_0001948 node EFO_1000168 Cervical Metaplasia null http://www.ebi.ac.uk/efo/EFO_1000168 node Orphanet_99027 Adult-onset autosomal dominant leukodystrophy null http://www.orpha.net/ORDO/Orphanet_99027 node HP_0003212 Increased circulating IgE level null http://purl.obolibrary.org/obo/HP_0003212 node EFO_0000089 CS57758 null http://www.ebi.ac.uk/efo/EFO_0000089 node Orphanet_369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome null http://www.orpha.net/ORDO/Orphanet_369970 node Orphanet_3439 Von Voss-Cherstvoy syndrome null http://www.orpha.net/ORDO/Orphanet_3439 node EFO_0010078 dentures null http://www.ebi.ac.uk/efo/EFO_0010078 node Orphanet_101005 Autosomal recessive spastic paraplegia type 25 null http://www.orpha.net/ORDO/Orphanet_101005 node EFO_1001431 suppurative thyroiditis null http://www.ebi.ac.uk/efo/EFO_1001431 node EFO_0010559 anti-drug antibody measurement null http://www.ebi.ac.uk/efo/EFO_0010559 node Orphanet_1652 Dent disease null http://www.orpha.net/ORDO/Orphanet_1652 node EFO_0005861 embryonic stage 2 Temporal ordering number - 70. http://www.ebi.ac.uk/efo/EFO_0005861 node EFO_0004934 N2 lymph node stage null http://www.ebi.ac.uk/efo/EFO_0004934 node PO_0007076 late rosette growth stage null http://purl.obolibrary.org/obo/PO_0007076 node EFO_0003431 obsolete_presumptive brain null http://www.ebi.ac.uk/efo/EFO_0003431 node Orphanet_1465 Coffin-Siris syndrome null http://www.orpha.net/ORDO/Orphanet_1465 node NCBITaxon_108619 Salmonella enterica subsp. enterica serovar Newport null http://purl.obolibrary.org/obo/NCBITaxon_108619 node Orphanet_363396 High myopia-sensorineural deafness syndrome null http://www.orpha.net/ORDO/Orphanet_363396 node EFO_1000069 Adamantinomatous Craniopharyngioma null http://www.ebi.ac.uk/efo/EFO_1000069 node UBERON_0002081 cardiac atrium null http://purl.obolibrary.org/obo/UBERON_0002081 node MONDO_0014008 phosphohydroxylysinuria null http://purl.obolibrary.org/obo/MONDO_0014008 node EFO_0010166 Warburg-Cinotti syndrome null http://www.ebi.ac.uk/efo/EFO_0010166 node EFO_0004060 TR389 null http://www.ebi.ac.uk/efo/EFO_0004060 node EFO_0010647 STAT3 gain of function null http://www.ebi.ac.uk/efo/EFO_0010647 node NCBITaxon_3330 Picea glauca null http://purl.obolibrary.org/obo/NCBITaxon_3330 node NCBITaxon_3707 Brassica juncea null http://purl.obolibrary.org/obo/NCBITaxon_3707 node Orphanet_95 Friedreich ataxia null http://www.orpha.net/ORDO/Orphanet_95 node MONDO_0017278 autoimmune polyendocrinopathy null http://purl.obolibrary.org/obo/MONDO_0017278 node MONDO_0043243 leukoplakia null http://purl.obolibrary.org/obo/MONDO_0043243 node EFO_0003817 laryngeal neoplasm null http://www.ebi.ac.uk/efo/EFO_0003817 node Orphanet_1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria null http://www.orpha.net/ORDO/Orphanet_1933 node EFO_0004281 testicular neoplasm null http://www.ebi.ac.uk/efo/EFO_0004281 node EFO_0010868 HG03103 null http://www.ebi.ac.uk/efo/EFO_0010868 node CL_0000766 myeloid leukocyte null http://purl.obolibrary.org/obo/CL_0000766 node HP_0011227 Elevated C-reactive protein level C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation. http://purl.obolibrary.org/obo/HP_0011227 node Orphanet_71271 Split hand - split foot - deafness DO classifies under split hand-foot malformation, but we enforce disjointness between syndromes and features http://www.orpha.net/ORDO/Orphanet_71271 node EFO_0003016 collecting duct carcinoma null http://www.ebi.ac.uk/efo/EFO_0003016 node MONDO_0018470 renal agenesis (disease) null http://purl.obolibrary.org/obo/MONDO_0018470 node EFO_0003601 obsolete_somite 13 null http://www.ebi.ac.uk/efo/EFO_0003601 node Orphanet_295163 Postaxial polydactyly type A, unilateral null http://www.orpha.net/ORDO/Orphanet_295163 node NCBITaxon_235 Brucella abortus null http://purl.obolibrary.org/obo/NCBITaxon_235 node PO_0007632 seed maturation stage null http://purl.obolibrary.org/obo/PO_0007632 node EFO_0003905 obsolete_venous thrombosis null http://www.ebi.ac.uk/efo/EFO_0003905 node CHEBI_28240 dichloroacetate null http://purl.obolibrary.org/obo/CHEBI_28240 node EFO_1000215 Desmoplastic Ameloblastoma null http://www.ebi.ac.uk/efo/EFO_1000215 node MONDO_0010435 nystagmus 6, congenital, X-linked null http://purl.obolibrary.org/obo/MONDO_0010435 node CL_0000168 insulin secreting cell null http://purl.obolibrary.org/obo/CL_0000168 node EFO_0003718 obsolete_liver (Pan troglodytes) null http://www.ebi.ac.uk/efo/EFO_0003718 node EFO_0006974 Oy-0 null http://www.ebi.ac.uk/efo/EFO_0006974 node HP_0007360 Aplasia/Hypoplasia of the cerebellum null http://purl.obolibrary.org/obo/HP_0007360 node HP_0011713 Left bundle branch block null http://purl.obolibrary.org/obo/HP_0011713 node NCBITaxon_323 Pseudomonas syringae pv. tomato null http://purl.obolibrary.org/obo/NCBITaxon_323 node PO_0009033 tepal null http://purl.obolibrary.org/obo/PO_0009033 node HP_0000751 Personality changes This term refers to changes in personality that are perceived as being abnormal. It does not refer to the usual gradual personality changes that tend to accompany aging and certain life situations. http://purl.obolibrary.org/obo/HP_0000751 node EFO_0009989 long read sequencer null http://www.ebi.ac.uk/efo/EFO_0009989 node EFO_1000303 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant null http://www.ebi.ac.uk/efo/EFO_1000303 node MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 null http://purl.obolibrary.org/obo/MONDO_0011450 node Orphanet_47045 Familial cold urticaria null http://www.orpha.net/ORDO/Orphanet_47045 node Orphanet_96063 Mosaic trisomy 10 null http://www.orpha.net/ORDO/Orphanet_96063 node EFO_0007448 pneumocystosis null http://www.ebi.ac.uk/efo/EFO_0007448 node NCBITaxon_243164 Dehalococcoides ethenogenes 195 null http://purl.obolibrary.org/obo/NCBITaxon_243164 node MONDO_0021092 fallopian tube neoplasm null http://purl.obolibrary.org/obo/MONDO_0021092 node Orphanet_199285 Hereditary hypercarotenemia and vitamin A deficiency null http://www.orpha.net/ORDO/Orphanet_199285 node Orphanet_2001 Cleft lip/palate - intestinal malrotation - cardiopathy null http://www.orpha.net/ORDO/Orphanet_2001 node CHEBI_28135 ponasterone A null http://purl.obolibrary.org/obo/CHEBI_28135 node EFO_0006875 acoustic startle blink response measurement null http://www.ebi.ac.uk/efo/EFO_0006875 node EFO_0008598 autoimmune bullous skin disease null http://www.ebi.ac.uk/efo/EFO_0008598 node Orphanet_63442 Angel-shaped phalango-epiphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_63442 node EFO_0007027 SD null http://www.ebi.ac.uk/efo/EFO_0007027 node HP_0003376 Steppage gait null http://purl.obolibrary.org/obo/HP_0003376 node MONDO_0013549 N-acetylaspartate deficiency null http://purl.obolibrary.org/obo/MONDO_0013549 node Orphanet_88661 Amelogenesis imperfecta null http://www.orpha.net/ORDO/Orphanet_88661 node MONDO_0004880 bowel dysfunction null http://purl.obolibrary.org/obo/MONDO_0004880 node Orphanet_308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency null http://www.orpha.net/ORDO/Orphanet_308410 node EFO_0007916 response to tricyclic antidepressant null http://www.ebi.ac.uk/efo/EFO_0007916 node FBbt_00004914 female accessory gland null http://purl.obolibrary.org/obo/FBbt_00004914 node NCBITaxon_44294 Actinobacillus pleuropneumoniae serovar 5 null http://purl.obolibrary.org/obo/NCBITaxon_44294 node EFO_0007115 NC-NC null http://www.ebi.ac.uk/efo/EFO_0007115 node Orphanet_101092 Hyper-IgM syndrome type 5 null http://www.orpha.net/ORDO/Orphanet_101092 node EFO_0009472 tympanic membrane perforation null http://www.ebi.ac.uk/efo/EFO_0009472 node EFO_1002009 macular telangiectasia type 2 null http://www.ebi.ac.uk/efo/EFO_1002009 node EFO_0009285 fractional shortening null http://www.ebi.ac.uk/efo/EFO_0009285 node EFO_0008931 Smart-seq2 null http://www.ebi.ac.uk/efo/EFO_0008931 node Orphanet_3207 White matter hypoplasia - corpus callosum agenesis - intellectual disability null http://www.orpha.net/ORDO/Orphanet_3207 node EFO_0009693 thiopurine metabolite measurement null http://www.ebi.ac.uk/efo/EFO_0009693 node NCBITaxon_90105 Salmonella enterica subsp. enterica serovar Saintpaul null http://purl.obolibrary.org/obo/NCBITaxon_90105 node EFO_0008744 FlowSeq null http://www.ebi.ac.uk/efo/EFO_0008744 node Orphanet_251393 Localized junctional epidermolysis bullosa, non-Herlitz type null http://www.orpha.net/ORDO/Orphanet_251393 node UBERON_6005425 visual anlage in statu nascendi null http://purl.obolibrary.org/obo/UBERON_6005425 node EFO_0003683 obsolete_anterior lateral line ganglion null http://www.ebi.ac.uk/efo/EFO_0003683 node EFO_0002756 fasting null http://www.ebi.ac.uk/efo/EFO_0002756 node EFO_0007203 cervicofacial actinomycosis null http://www.ebi.ac.uk/efo/EFO_0007203 node EFO_0001253 THP-1 null http://www.ebi.ac.uk/efo/EFO_0001253 node EFO_0002579 pancreatic endoderm null http://www.ebi.ac.uk/efo/EFO_0002579 node Orphanet_168796 Heart-hand syndrome, Slovenian type null http://www.orpha.net/ORDO/Orphanet_168796 node CLO_0013996 GM17163 null http://purl.obolibrary.org/obo/CLO_0013996 node EFO_0009373 edema null http://www.ebi.ac.uk/efo/EFO_0009373 node EFO_1000882 coronary stenosis null http://www.ebi.ac.uk/efo/EFO_1000882 node FMA_3906 distal portion of circumflex branch of left coronary artery null http://purl.obolibrary.org/obo/FMA_3906 node EFO_0009781 progesterone-receptor negative breast cancer Editor note: check why not in NCIT; note also that triple-negative should be classified here http://www.ebi.ac.uk/efo/EFO_0009781 node EFO_0008832 NSCR null http://www.ebi.ac.uk/efo/EFO_0008832 node EFO_0000834 obsolete_intestine null http://www.ebi.ac.uk/efo/EFO_0000834 node MONDO_0002558 melanotic neurilemmoma null http://purl.obolibrary.org/obo/MONDO_0002558 node Orphanet_565 Menkes disease null http://www.orpha.net/ORDO/Orphanet_565 node EFO_0004537 neonatal systemic lupus erythematosus null http://www.ebi.ac.uk/efo/EFO_0004537 node Orphanet_391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression null http://www.orpha.net/ORDO/Orphanet_391316 node EFO_0003771 obsolete_abdominal fat null http://www.ebi.ac.uk/efo/EFO_0003771 node EFO_0000647 experiment performer null http://www.ebi.ac.uk/efo/EFO_0000647 node EFO_0002290 obsolete_NCI-H322 null http://www.ebi.ac.uk/efo/EFO_0002290 node EFO_0001341 TBP-105Q null http://www.ebi.ac.uk/efo/EFO_0001341 node EFO_0001639 cancer cell line null http://www.ebi.ac.uk/efo/EFO_0001639 node Orphanet_247790 FTH1-related iron overload Editor notes: ORDO treats this as two diseases http://www.orpha.net/ORDO/Orphanet_247790 node CHEBI_143618 sphingomyelin 18:1 null http://purl.obolibrary.org/obo/CHEBI_143618 node Orphanet_93258 Pfeiffer syndrome type 1 null http://www.orpha.net/ORDO/Orphanet_93258 node EFO_1000970 hypercementosis null http://www.ebi.ac.uk/efo/EFO_1000970 node NCBITaxon_4577 Zea mays null http://purl.obolibrary.org/obo/NCBITaxon_4577 node EFO_0001025 obsolete_petal null http://www.ebi.ac.uk/efo/EFO_0001025 node Orphanet_7 3C syndrome null http://www.orpha.net/ORDO/Orphanet_7 node MONDO_0018776 demyelinating hereditary motor and sensory neuropathy null http://purl.obolibrary.org/obo/MONDO_0018776 node Orphanet_653 Multiple endocrine neoplasia type 2 null http://www.orpha.net/ORDO/Orphanet_653 node EFO_0000441 obsolete_embryonic central brain null http://www.ebi.ac.uk/efo/EFO_0000441 node Orphanet_448 Hemophilia null http://www.orpha.net/ORDO/Orphanet_448 node EFO_1000783 diabetic neuropathy null http://www.ebi.ac.uk/efo/EFO_1000783 node MONDO_0002165 rectal neoplasm null http://purl.obolibrary.org/obo/MONDO_0002165 node EFO_1001122 primary Actinomycetales infectious disease null http://www.ebi.ac.uk/efo/EFO_1001122 node EFO_0003836 lipoprotein null http://www.ebi.ac.uk/efo/EFO_0003836 node MONDO_0021193 neuroepithelial neoplasm Editor note consider adding grouping class for Neuroepithelial, Perineurial, and Schwann Cell Neoplasm http://purl.obolibrary.org/obo/MONDO_0021193 node EFO_0004625 progranulin measurement null http://www.ebi.ac.uk/efo/EFO_0004625 node EFO_0001423 encephalomyelitis null http://www.ebi.ac.uk/efo/EFO_0001423 node EFO_0000254 anal pad specific anlage null http://www.ebi.ac.uk/efo/EFO_0000254 node EFO_0000735 washing null http://www.ebi.ac.uk/efo/EFO_0000735 node CHEBI_37415 alpha-amanitin null http://purl.obolibrary.org/obo/CHEBI_37415 node NCBITaxon_38727 Panicum virgatum null http://purl.obolibrary.org/obo/NCBITaxon_38727 node CLO_0031228 GM14406 null http://purl.obolibrary.org/obo/CLO_0031228 node PO_0001083 inflorescence development stage null http://purl.obolibrary.org/obo/PO_0001083 node EFO_0008040 breast cancer anti-estrogen resistance protein 3 measurement null http://www.ebi.ac.uk/efo/EFO_0008040 node CL_0000622 acinar cell null http://purl.obolibrary.org/obo/CL_0000622 node NCBITaxon_10116 Rattus norvegicus null http://purl.obolibrary.org/obo/NCBITaxon_10116 node HP_0010720 Abnormal hair pattern null http://purl.obolibrary.org/obo/HP_0010720 node Orphanet_93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type null http://www.orpha.net/ORDO/Orphanet_93346 node EFO_0010442 triacylglycerol 58:8 measurement null http://www.ebi.ac.uk/efo/EFO_0010442 node Orphanet_285657 Disorder of folate metabolism and transport null http://www.orpha.net/ORDO/Orphanet_285657 node EFO_0007998 cognitive impairment measurement null http://www.ebi.ac.uk/efo/EFO_0007998 node EFO_0005640 ATC Code J Antiinfectives for systemic use J ANTIINFECTIVES FOR SYSTEMIC USE Antiinfectives are also classified in the following groups: A01AB Antiinfectives and antiseptics for local oral treatment A02BD Combinations for eradication of Helicobacter pylori A07A Intestinal antiinfectives D01 Antifungals for dermatological use D06 Antibiotics and chemotherapeutics for dermatological use D07C Corticosteroids, combinations with antibiotics D09AA Ointment dressings with antiinfectives D10AF Antiinfectives for treatment of acne G01 Gynecological antiinfectives and antiseptics P Antiparasitic products, insecticides and repellents R02AB Antibiotics R05X Other cold preparations S01/ S02/ S03 Eye and ear preparations with antiinfectives Even systemically administered antibacterials and antimycotics may be classified in other groups if their target is exclusively local, e.g. the skin - D01 - Antifungals for dermatological use Inhaled antiinfectives are classified in J. The DDDs for the antiinfectives are as a main rule based on the use in infections of moderate severity. However, some antiinfectives are only used in severe infections and their DDDs are assigned accordingly. The DDDs assigned are based on daily treatment. The duration of the treatment periods is not taken into consideration. For antiinfectives given in a high initially starting dose followed by a lower daily "maintenance" dose, the DDDs are based on the "maintenance" dose if the total duration of the treat-ment course is more than one week. If, however, the treatment course is 7 days or less, the DDDs are assigned according to the average daily dose i.e. the total course dose divided by the number of treatment days (e.g azithromycin). J01 ANTIBACTERIALS FOR SYSTEMIC USE This group comprises antibacterials for systemic use, except antimycobacterials, which are classified in J04. The antibacterials are classified according to their mode of action and chemistry. Combinations of two or more systemic antibacterials from different third levels are classified in J01R, except combinations of sulfonamides and trimethoprim, which are classified at a separate 4th level, J01EE. Combinations of antibacterials with other drugs, including local anesthetics or vitamins, are classified at separate 5th levels in the respective antibacterial group by using the 50-series. Common cold preparations containing minimal amounts of antibacterials are classified in R05X. Inhaled antiinfectives are classified here based on the fact that preparations for inhalation can not be separated from preparations for injection. J02 ANTIMYCOTICS FOR SYSTEMIC USE J04 ANTIMYCOBACTERIALS This group comprises drugs mainly used for the treatment of tuberculosis or lepra. However, streptomycins are classified in J01G - Aminoglycoside antibacterials. Streptomycin in combination with antimycobacterials are classified in J04AM. J05 ANTIVIRALS FOR SYSTEMIC USE This group comprises specific antiviral agents, excl. vaccines. Antivirals for dermatological use, see D06BB. Antivirals for ophthalmological use, see S01A - Antiinfectives. Amantadine, which is also used as an antiviral agent, is classified in N04BB. J06 IMMUNE SERA AND IMMUNOGLOBULINS No DDDs have been assigned, except for nebacumab in J06BC01. J07 VACCINES The vaccines are divided in bacterial, viral and combinations of bacterial and viral at separate ATC 3rd levels. Subdivision at the 4th level is made mainly according to indication, while subdivision at the 5th level is mainly related to the manufacturing process. Combinations of vaccines within the same 3rd level are given separate 5th levels using the 50-series. 5th levels may contain adjuvans. See comments under the 4th levels. No DDDs have been assigned. http://www.ebi.ac.uk/efo/EFO_0005640 node EFO_0004713 FEV/FEC ratio null http://www.ebi.ac.uk/efo/EFO_0004713 node EFO_0000342 chronic pancreatitis null http://www.ebi.ac.uk/efo/EFO_0000342 node EFO_1001023 lupus vulgaris null http://www.ebi.ac.uk/efo/EFO_1001023 node NCBITaxon_480 Moraxella catarrhalis null http://purl.obolibrary.org/obo/NCBITaxon_480 node MONDO_0021094 immunodeficiency disease null http://purl.obolibrary.org/obo/MONDO_0021094 node Orphanet_228399 8q12 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_228399 node EFO_0005453 SF539 null http://www.ebi.ac.uk/efo/EFO_0005453 node Orphanet_295047 Macrodactyly of toes null http://www.orpha.net/ORDO/Orphanet_295047 node UBERON_0002335 macula densa null http://purl.obolibrary.org/obo/UBERON_0002335 node Orphanet_166308 Benign infantile focal epilepsy with midline spikes and wave during sleep null http://www.orpha.net/ORDO/Orphanet_166308 node CHEBI_19641 2-hydroxyisobutyrate null http://purl.obolibrary.org/obo/CHEBI_19641 node GO_0030157 pancreatic juice secretion null http://purl.obolibrary.org/obo/GO_0030157 node EFO_0010530 ribulose-5-phosphate measurement null http://www.ebi.ac.uk/efo/EFO_0010530 node CL_0000931 activated type II NK T cell null http://purl.obolibrary.org/obo/CL_0000931 node Orphanet_1807 Focal facial dermal dysplasia type III null http://www.orpha.net/ORDO/Orphanet_1807 node HP_0002000 Short columella This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis. http://purl.obolibrary.org/obo/HP_0002000 node MONDO_0003681 myxoid chondrosarcoma null http://purl.obolibrary.org/obo/MONDO_0003681 node Orphanet_309824 Disorder of metabolite absorption and transport null http://www.orpha.net/ORDO/Orphanet_309824 node EFO_0010027 RESA null http://www.ebi.ac.uk/efo/EFO_0010027 node CL_0002338 CD56-positive, CD161-positive immature natural killer cell, human Human markers; killer cell immunoglobulin-like receptor 2DL1 is used as a representative example (PRO at this time lacks a KIR superfamily). http://purl.obolibrary.org/obo/CL_0002338 node UBERON_0002423 hepatobiliary system null http://purl.obolibrary.org/obo/UBERON_0002423 node MONDO_0044724 3-methylglutaconic aciduria type 9 null http://purl.obolibrary.org/obo/MONDO_0044724 node EFO_0010508 malate measurement null http://www.ebi.ac.uk/efo/EFO_0010508 node EFO_0007712 cercarium null http://www.ebi.ac.uk/efo/EFO_0007712 node Orphanet_1414 Cholestasis-lymphedema syndrome null http://www.orpha.net/ORDO/Orphanet_1414 node Orphanet_90790 Congenital lipoid adrenal hyperplasia due to STAR deficency null http://www.orpha.net/ORDO/Orphanet_90790 node MONDO_0012804 hypertrophic cardiomyopathy 12 null http://purl.obolibrary.org/obo/MONDO_0012804 node EFO_0004120 obsolete_ArrayExpress experiment type null http://www.ebi.ac.uk/efo/EFO_0004120 node EFO_0010729 sun exposure measurement null http://www.ebi.ac.uk/efo/EFO_0010729 node EFO_1000018 bladder disease null http://www.ebi.ac.uk/efo/EFO_1000018 node EFO_0010115 glycerol measurement null http://www.ebi.ac.uk/efo/EFO_0010115 node EFO_0007294 hand, foot and mouth disease null http://www.ebi.ac.uk/efo/EFO_0007294 node Orphanet_98596 Eyebrow hypertrophy null http://www.orpha.net/ORDO/Orphanet_98596 node Orphanet_86914 Lymphedema - cerebral arteriovenous anomaly null http://www.orpha.net/ORDO/Orphanet_86914 node EFO_0002850 RERF-LC-AI null http://www.ebi.ac.uk/efo/EFO_0002850 node NCBITaxon_816 Bacteroides null http://purl.obolibrary.org/obo/NCBITaxon_816 node EFO_0006753 SKM-1 null http://www.ebi.ac.uk/efo/EFO_0006753 node HP_0200032 Kayser-Fleischer ring null http://purl.obolibrary.org/obo/HP_0200032 node EFO_0007800 body fat percentage null http://www.ebi.ac.uk/efo/EFO_0007800 node EFO_0006566 dysplastic oral keratinocyte null http://www.ebi.ac.uk/efo/EFO_0006566 node EFO_0007613 response to endocrine therapy null http://www.ebi.ac.uk/efo/EFO_0007613 node EFO_0010817 self-injurious ideation null http://www.ebi.ac.uk/efo/EFO_0010817 node MONDO_0001902 congenital agammaglobulinemia null http://purl.obolibrary.org/obo/MONDO_0001902 node MONDO_0016697 low grade ependymoma null http://purl.obolibrary.org/obo/MONDO_0016697 node EFO_0007195 cat-scratch disease null http://www.ebi.ac.uk/efo/EFO_0007195 node Orphanet_98684 Craniostenosis associated with a strabismus null http://www.orpha.net/ORDO/Orphanet_98684 node Orphanet_401785 Autosomal recessive spastic paraplegia type 62 null http://www.orpha.net/ORDO/Orphanet_401785 node Orphanet_98497 Genetic peripheral neuropathy null http://www.orpha.net/ORDO/Orphanet_98497 node EFO_0006654 MOLP-8 null http://www.ebi.ac.uk/efo/EFO_0006654 node Orphanet_319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency null http://www.orpha.net/ORDO/Orphanet_319569 node UBERON_0001876 amygdala null http://purl.obolibrary.org/obo/UBERON_0001876 node HP_0003155 Elevated alkaline phosphatase null http://purl.obolibrary.org/obo/HP_0003155 node EFO_0009181 growth differentiation factor 15 measurement null http://www.ebi.ac.uk/efo/EFO_0009181 node UO_0000170 part per billion null http://purl.obolibrary.org/obo/UO_0000170 node MONDO_0016785 complete hydatidiform mole null http://purl.obolibrary.org/obo/MONDO_0016785 node MONDO_0025484 simian acquired immunodeficiency syndrome null http://purl.obolibrary.org/obo/MONDO_0025484 node EFO_0007691 Capture-C null http://www.ebi.ac.uk/efo/EFO_0007691 node EFO_0001658 left null http://www.ebi.ac.uk/efo/EFO_0001658 node EFO_0003374 obsolete_hindgut anlage in statu nascendi null http://www.ebi.ac.uk/efo/EFO_0003374 node NCBITaxon_11577 La Crosse virus null http://purl.obolibrary.org/obo/NCBITaxon_11577 node HP_0000817 Poor eye contact Eye contact, define as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication. http://purl.obolibrary.org/obo/HP_0000817 node HP_0002059 Cerebral atrophy Atrophy may be progressive over time. http://purl.obolibrary.org/obo/HP_0002059 node MONDO_0012112 hypertrophic cardiomyopathy 10 null http://purl.obolibrary.org/obo/MONDO_0012112 node Orphanet_217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Editor note: add transient course http://www.orpha.net/ORDO/Orphanet_217371 node CHEBI_25722 orotidine null http://purl.obolibrary.org/obo/CHEBI_25722 node EFO_0009064 X-linked erythropoietic protoporphyria null http://www.ebi.ac.uk/efo/EFO_0009064 node NCBITaxon_3329 Picea abies null http://purl.obolibrary.org/obo/NCBITaxon_3329 node CHEBI_132940 1,3,7-trimethylurate null http://purl.obolibrary.org/obo/CHEBI_132940 node CHEBI_6980 monocrotaline null http://purl.obolibrary.org/obo/CHEBI_6980 node MONDO_0002249 thrombocytosis disease null http://purl.obolibrary.org/obo/MONDO_0002249 node Orphanet_256 Early-onset generalized limb-onset dystonia null http://www.orpha.net/ORDO/Orphanet_256 node EFO_1001938 B-cell non-Hodgkins lymphoma null http://www.ebi.ac.uk/efo/EFO_1001938 node CHEBI_6343 labetalol null http://purl.obolibrary.org/obo/CHEBI_6343 node EFO_0003462 obsolete_presumptive enteric nervous system null http://www.ebi.ac.uk/efo/EFO_0003462 node MONDO_0003519 malignant syringoma null http://purl.obolibrary.org/obo/MONDO_0003519 node Orphanet_289098 Disorders of vitamin D metabolism null http://www.orpha.net/ORDO/Orphanet_289098 node Orphanet_98755 Spinocerebellar ataxia type 1 null http://www.orpha.net/ORDO/Orphanet_98755 node CHEBI_35546 perfluorodecanoic acid null http://purl.obolibrary.org/obo/CHEBI_35546 node Orphanet_171876 Generalized pseudohypoaldosteronism type 1 null http://www.orpha.net/ORDO/Orphanet_171876 node EFO_1000498 Prostate Rhabdomyosarcoma null http://www.ebi.ac.uk/efo/EFO_1000498 node EFO_0010595 heat shock protein beta-1 measurement null http://www.ebi.ac.uk/efo/EFO_0010595 node Orphanet_93438 Mesomelic and rhizo-mesomelic dysplasia null http://www.orpha.net/ORDO/Orphanet_93438 node Orphanet_50815 Branchiogenic deafness syndrome null http://www.orpha.net/ORDO/Orphanet_50815 node Orphanet_314029 High bone mass osteogenesis imperfecta null http://www.orpha.net/ORDO/Orphanet_314029 node EFO_0010899 anti-merkel cell virus antibody measurement null http://www.ebi.ac.uk/efo/EFO_0010899 node MONDO_0003607 neuritis of upper limb null http://purl.obolibrary.org/obo/MONDO_0003607 node EFO_1000207 obsolete_cortex of kidney null http://www.ebi.ac.uk/efo/EFO_1000207 node GO_1901659 glycosyl compound biosynthetic process null http://purl.obolibrary.org/obo/GO_1901659 node NCBITaxon_139651 Teleopsis whitei null http://purl.obolibrary.org/obo/NCBITaxon_139651 node EFO_1000586 obsolete_Thyroid Gland Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000586 node EFO_0001202 MCF12A null http://www.ebi.ac.uk/efo/EFO_0001202 node EFO_0005858 C. elegans embryo stage null http://www.ebi.ac.uk/efo/EFO_0005858 node UBERON_0001515 thoracic aorta null http://purl.obolibrary.org/obo/UBERON_0001515 node EFO_0005168 wild type genotype null http://www.ebi.ac.uk/efo/EFO_0005168 node MONDO_0021370 neoplasm of minor salivary gland null http://purl.obolibrary.org/obo/MONDO_0021370 node Orphanet_46 Adenylosuccinate lyase deficiency null http://www.orpha.net/ORDO/Orphanet_46 node MONDO_0021747 Acanthamoeba infectious disease null http://purl.obolibrary.org/obo/MONDO_0021747 node NCBITaxon_9541 Macaca fascicularis null http://purl.obolibrary.org/obo/NCBITaxon_9541 node EFO_1000108 Benign Carotid Body Paraganglioma null http://www.ebi.ac.uk/efo/EFO_1000108 node NCBITaxon_242124 Populus yunnanensis null http://purl.obolibrary.org/obo/NCBITaxon_242124 node MONDO_0000088 precocious puberty null http://purl.obolibrary.org/obo/MONDO_0000088 node CLO_0016496 GM17803 null http://purl.obolibrary.org/obo/CLO_0016496 node GO_0006970 response to osmotic stress null http://purl.obolibrary.org/obo/GO_0006970 node Orphanet_2195 Dicarboxylic aminoaciduria null http://www.orpha.net/ORDO/Orphanet_2195 node CHEBI_3650 chlorpropamide null http://purl.obolibrary.org/obo/CHEBI_3650 node HP_0012736 Profound global developmental delay null http://purl.obolibrary.org/obo/HP_0012736 node Orphanet_284339 Pontocerebellar hypoplasia type 7 null http://www.orpha.net/ORDO/Orphanet_284339 node Orphanet_2935 Crossed polysyndactyly null http://www.orpha.net/ORDO/Orphanet_2935 node EFO_0006472 Pfeiffer null http://www.ebi.ac.uk/efo/EFO_0006472 node CL_0000557 granulocyte monocyte progenitor cell Originally described in the dendritic cell ontology (DC_CL:0000042)(PMID:19243617). GMPs are reportedly CD16-positive, CD32-positive, CD34-positive, CD38-positive, CD45RA-positive, CD110-negative, CD117-positive, CD123-positive, and SCA1-negative. http://purl.obolibrary.org/obo/CL_0000557 node EFO_0000150 CS57870 null http://www.ebi.ac.uk/efo/EFO_0000150 node CHEBI_16359 cholic acid null http://purl.obolibrary.org/obo/CHEBI_16359 node EFO_0004139 obsolete_Caffey disease null http://www.ebi.ac.uk/efo/EFO_0004139 node NCBITaxon_7963 Hypophthalmichthys null http://purl.obolibrary.org/obo/NCBITaxon_7963 node Orphanet_93108 Renal dysplasia null http://www.orpha.net/ORDO/Orphanet_93108 node Orphanet_101084 Charcot-Marie-Tooth disease type 1D null http://www.orpha.net/ORDO/Orphanet_101084 node Orphanet_85282 MEHMO syndrome null http://www.orpha.net/ORDO/Orphanet_85282 node EFO_0009897 10x v1 sequencing null http://www.ebi.ac.uk/efo/EFO_0009897 node MONDO_0001878 acquired hypertrophic pyloric stenosis null http://purl.obolibrary.org/obo/MONDO_0001878 node MONDO_0018555 hypogonadotropic hypogonadism null http://purl.obolibrary.org/obo/MONDO_0018555 node MONDO_0021043 mixed neoplasm null http://purl.obolibrary.org/obo/MONDO_0021043 node Orphanet_97245 Congenital myopathy null http://www.orpha.net/ORDO/Orphanet_97245 node CHEBI_64195 ritanserin null http://purl.obolibrary.org/obo/CHEBI_64195 node Orphanet_1006 Alopecia antibody deficiency null http://www.orpha.net/ORDO/Orphanet_1006 node NCBITaxon_69892 Microsporum gallinae null http://purl.obolibrary.org/obo/NCBITaxon_69892 node EFO_0008736 Fast-ATAC null http://www.ebi.ac.uk/efo/EFO_0008736 node EFO_0000033 CS57615 null http://www.ebi.ac.uk/efo/EFO_0000033 node CHEBI_64489 1-myristoyl-sn-glycero-3-phosphocholine null http://purl.obolibrary.org/obo/CHEBI_64489 node EFO_0001196 IMR-90 null http://www.ebi.ac.uk/efo/EFO_0001196 node Orphanet_281190 Congenital reticular ichthyosiform erythroderma null http://www.orpha.net/ORDO/Orphanet_281190 node EFO_0009498 MSiPS null http://www.ebi.ac.uk/efo/EFO_0009498 node EFO_0008549 digestive system neoplasm null http://www.ebi.ac.uk/efo/EFO_0008549 node Orphanet_85165 Severe achondroplasia - developmental delay - acanthosis nigricans null http://www.orpha.net/ORDO/Orphanet_85165 node EFO_0008957 T-WGBS null http://www.ebi.ac.uk/efo/EFO_0008957 node MONDO_0003659 pediatric lymphoma null http://purl.obolibrary.org/obo/MONDO_0003659 node EFO_0001670 obsolete_mediastinal lymph node null http://www.ebi.ac.uk/efo/EFO_0001670 node Orphanet_247768 Atypical Mayer-Rokitansky-Küster-Hauser syndrome null http://www.orpha.net/ORDO/Orphanet_247768 node CHEBI_85693 diacylglycerol 34:2 null http://purl.obolibrary.org/obo/CHEBI_85693 node Orphanet_34517 Autosomal dominant limb-girdle muscular dystrophy type 1E Terminology notes: See comments for LGMD1D http://www.orpha.net/ORDO/Orphanet_34517 node EFO_1000687 diffuse lipomatosis null http://www.ebi.ac.uk/efo/EFO_1000687 node EFO_0001284 cleavage 16-cell null http://www.ebi.ac.uk/efo/EFO_0001284 node NCBITaxon_10363 Human herpesvirus 5 strain Towne null http://purl.obolibrary.org/obo/NCBITaxon_10363 node EFO_0009586 skin hydration measurement null http://www.ebi.ac.uk/efo/EFO_0009586 node EFO_0008637 Illumina NovaSeq 6000 null http://www.ebi.ac.uk/efo/EFO_0008637 node Orphanet_96148 Distal monosomy 10q null http://www.orpha.net/ORDO/Orphanet_96148 node MONDO_0018701 congenital nemaline myopathy null http://purl.obolibrary.org/obo/MONDO_0018701 node UO_0000189 count unit null http://purl.obolibrary.org/obo/UO_0000189 node GO_0044710 single-organism metabolic process null http://purl.obolibrary.org/obo/GO_0044710 node EFO_1000294 HER2 Positive Breast Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000294 node CL_1000488 cholangiocyte null http://purl.obolibrary.org/obo/CL_1000488 node EFO_1000775 vibratory urticaria Editor note: TODO add ECTO http://www.ebi.ac.uk/efo/EFO_1000775 node EFO_0009674 lens disease Includes cataracts, lens subluxation and aphakia http://www.ebi.ac.uk/efo/EFO_0009674 node HP_0005359 Aplasia of the thymus null http://purl.obolibrary.org/obo/HP_0005359 node Orphanet_79317 Phosphoenolpyruvate carboxykinase 2 deficiency null http://www.orpha.net/ORDO/Orphanet_79317 node Orphanet_309120 Acyl-CoA dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_309120 node HP_0003565 Elevated erythrocyte sedimentation rate null http://purl.obolibrary.org/obo/HP_0003565 node Orphanet_2549 Oculoauriculovertebral spectrum with radial defects null http://www.orpha.net/ORDO/Orphanet_2549 node MONDO_0003354 heart sarcoma null http://purl.obolibrary.org/obo/MONDO_0003354 node MONDO_0000633 sensory organ benign neoplasm null http://purl.obolibrary.org/obo/MONDO_0000633 node EFO_0002612 human herpesvirus 8 infection null http://www.ebi.ac.uk/efo/EFO_0002612 node NCBITaxon_1502 Clostridium perfringens null http://purl.obolibrary.org/obo/NCBITaxon_1502 node HP_0001382 Joint hypermobility null http://purl.obolibrary.org/obo/HP_0001382 node BTO_0001795 anterior silk gland null http://purl.obolibrary.org/obo/BTO_0001795 node UBERON_0000365 urothelium null http://purl.obolibrary.org/obo/UBERON_0000365 node EFO_0000948 obsolete_joint null http://www.ebi.ac.uk/efo/EFO_0000948 node EFO_1000382 Mixed Lobular and Ductal Breast Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000382 node EFO_1000177 Choroid Plexus Papilloma null http://www.ebi.ac.uk/efo/EFO_1000177 node MONDO_0020089 acquired lipodystrophy null http://purl.obolibrary.org/obo/MONDO_0020089 node PO_0005645 leaf mesophyll If you are annotating to this term, please add an additional annotation to vascular leaf (PO:0009025) or non-vascular leaf (PO:0025075), depending on the species. All annotations for angiosperms, gymnosperms, and pteridophytes should go to vascular leaf and all annotations for bryophytes should go to non-vascular leaf. http://purl.obolibrary.org/obo/PO_0005645 node Orphanet_163690 Hypotonia - cystinuria syndrome Editor note: check this. ORDO has type 1 as a superclass http://www.orpha.net/ORDO/Orphanet_163690 node EFO_0008253 OX-2 membrane glycoprotein measurement null http://www.ebi.ac.uk/efo/EFO_0008253 node EFO_0007304 hepatitis D virus infection null http://www.ebi.ac.uk/efo/EFO_0007304 node Orphanet_79405 Junctional epidermolysis bullosa inversa null http://www.orpha.net/ORDO/Orphanet_79405 node MONDO_0044993 sympathetic nervous system disease null http://purl.obolibrary.org/obo/MONDO_0044993 node Orphanet_75382 Oguchi disease null http://www.orpha.net/ORDO/Orphanet_75382 node Orphanet_254827 Mitochondrial membrane transport disorder null http://www.orpha.net/ORDO/Orphanet_254827 node UBERON_0002539 pharyngeal arch null http://purl.obolibrary.org/obo/UBERON_0002539 node NCBITaxon_28930 Fagus sylvatica null http://purl.obolibrary.org/obo/NCBITaxon_28930 node Orphanet_43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency null http://www.orpha.net/ORDO/Orphanet_43115 node HP_0001945 Fever Hyperthermia is defined as a temperature greater than 37.5-38.3 degree celsius (100-101 degree Fahrenheit). http://purl.obolibrary.org/obo/HP_0001945 node EFO_1000879 corneal edema null http://www.ebi.ac.uk/efo/EFO_1000879 node MONDO_0019112 cancer-associated retinopathy null http://purl.obolibrary.org/obo/MONDO_0019112 node EFO_0001139 GM12154 null http://www.ebi.ac.uk/efo/EFO_0001139 node Orphanet_749 Congenital prekallikrein deficiency null http://www.orpha.net/ORDO/Orphanet_749 node EFO_0000555 irritable bowel syndrome Editor note: consider merging with MONDO:0005265 http://www.ebi.ac.uk/efo/EFO_0000555 node Orphanet_163668 Spondyloepiphyseal dysplasia, MacDermot type null http://www.orpha.net/ORDO/Orphanet_163668 node EFO_1001236 viral meningitis null http://www.ebi.ac.uk/efo/EFO_1001236 node EFO_1000265 Gallbladder Biliary Intraepithelial Neoplasia null http://www.ebi.ac.uk/efo/EFO_1000265 node CL_0000874 splenic red pulp macrophage Markers: Mouse: F4/80+, CD68+, MR+, Dectin2+, macrosialin+, sialoadhesin-low; role or process: immune, clearance of senescent erythrocytes. http://purl.obolibrary.org/obo/CL_0000874 node EFO_0005666 thyroid peroxidase antibody measurement null http://www.ebi.ac.uk/efo/EFO_0005666 node NCBITaxon_100226 Streptomyces coelicolor A3(2) null http://purl.obolibrary.org/obo/NCBITaxon_100226 node EFO_0004739 circulating cell free DNA measurement null http://www.ebi.ac.uk/efo/EFO_0004739 node EFO_0003391 obsolete_embryonic outer optic lobe primordium null http://www.ebi.ac.uk/efo/EFO_0003391 node UBERON_2001286 caudal vein plexus null http://purl.obolibrary.org/obo/UBERON_2001286 node EFO_0002945 familial cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_0002945 node EFO_0003768 nicotine dependence null http://www.ebi.ac.uk/efo/EFO_0003768 node EFO_0008341 snoring measurement null http://www.ebi.ac.uk/efo/EFO_0008341 node HP_0002419 Molar tooth sign on MRI Molar tooth appearance results from a lack of normal decussation of superior cerebellar peduncular fiber tracts which in turn leads to enlargement of the peduncles, which also follow a more horizontal course. The absence of crossing fibers also leads to a reduction in the anteroposterior diameter of the midbrain and deepening of the interpeduncular cistern. http://purl.obolibrary.org/obo/HP_0002419 node CHEBI_49375 dasatinib null http://purl.obolibrary.org/obo/CHEBI_49375 node Orphanet_37612 Episodic ataxia type 1 null http://www.orpha.net/ORDO/Orphanet_37612 node EFO_1000967 hidrocystoma null http://www.ebi.ac.uk/efo/EFO_1000967 node MONDO_0017955 granulomatous autoinflammatory syndrome null http://purl.obolibrary.org/obo/MONDO_0017955 node GO_0045823 positive regulation of heart contraction null http://purl.obolibrary.org/obo/GO_0045823 node Orphanet_178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation null http://www.orpha.net/ORDO/Orphanet_178396 node EFO_0000438 obsolete_embryonic anal pad null http://www.ebi.ac.uk/efo/EFO_0000438 node NCBITaxon_354242 Campylobacter jejuni subsp. jejuni 81-176 null http://purl.obolibrary.org/obo/NCBITaxon_354242 node EFO_1001324 Fascioliasis null http://www.ebi.ac.uk/efo/EFO_1001324 node EFO_1001119 posterior uveitis Editor note: choroid=PU. in MESH PUitis is defined to be choroid+retina+VB, and isa panuveitis. TODO check ORDO, GARD http://www.ebi.ac.uk/efo/EFO_1001119 node CL_0000962 Bm2 B cell These cells are also CD10-negative, CD39-positive, CD44-positive, CD71-negative, CD77-negative, IgM-positive, IgG-negative, IgA-negative, and IgE-negative. http://purl.obolibrary.org/obo/CL_0000962 node EFO_0002552 obsolete_renal artery null http://www.ebi.ac.uk/efo/EFO_0002552 node UBERON_0012168 umbilical cord blood Cord blood is collected because it contains stem cells, which can be used to treat hematopoietic and genetic disorders.[WP] http://purl.obolibrary.org/obo/UBERON_0012168 node EFO_0005549 diphtheria null http://www.ebi.ac.uk/efo/EFO_0005549 node EFO_0002828 Lu135 null http://www.ebi.ac.uk/efo/EFO_0002828 node Orphanet_289832 Disorder of lysine and hydroxylysine metabolism null http://www.orpha.net/ORDO/Orphanet_289832 node Orphanet_1738 Trisomy 4p null http://www.orpha.net/ORDO/Orphanet_1738 node Orphanet_238446 15q11q13 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_238446 node EFO_0004112 obsolete_seq library strategy flag null http://www.ebi.ac.uk/efo/EFO_0004112 node HP_0011821 Abnormality of facial skeleton The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer. http://purl.obolibrary.org/obo/HP_0011821 node GO_0097330 response to 5-fluoro-2'-deoxyuridine null http://purl.obolibrary.org/obo/GO_0097330 node HP_0004408 Abnormality of the sense of smell null http://purl.obolibrary.org/obo/HP_0004408 node EFO_0003008 ILSXISS114/TejJ null http://www.ebi.ac.uk/efo/EFO_0003008 node MONDO_0017375 congenital enterovirus infection null http://purl.obolibrary.org/obo/MONDO_0017375 node CHEBI_7676 O-butanoylcarnitine null http://purl.obolibrary.org/obo/CHEBI_7676 node MONDO_0004169 premenstrual tension null http://purl.obolibrary.org/obo/MONDO_0004169 node Orphanet_1826 Frontometaphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_1826 node MONDO_0008887 bronchiectasis with or without elevated sweat chloride 1 null http://purl.obolibrary.org/obo/MONDO_0008887 node EFO_0006558 COV413B null http://www.ebi.ac.uk/efo/EFO_0006558 node NCBITaxon_267377 Methanococcus maripaludis S2 null http://purl.obolibrary.org/obo/NCBITaxon_267377 node MONDO_0024878 secondary carcinoma Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. http://purl.obolibrary.org/obo/MONDO_0024878 node EFO_0004200 Illumina Genome Analyzer null http://www.ebi.ac.uk/efo/EFO_0004200 node MONDO_0037748 hyperlipoproteinemia null http://purl.obolibrary.org/obo/MONDO_0037748 node HP_0100501 Recurrent bronchiolitis null http://purl.obolibrary.org/obo/HP_0100501 node NCBITaxon_104955 Lactobacillus frumenti null http://purl.obolibrary.org/obo/NCBITaxon_104955 node UBERON_0003464 hindlimb bone null http://purl.obolibrary.org/obo/UBERON_0003464 node NCBITaxon_6669 Daphnia pulex null http://purl.obolibrary.org/obo/NCBITaxon_6669 node EFO_0004013 balanced reciprocal translocation null http://www.ebi.ac.uk/efo/EFO_0004013 node MONDO_0016435 acquired dermis elastic tissue disorder with decreased elastic tissue null http://purl.obolibrary.org/obo/MONDO_0016435 node EFO_0006779 YMB-1 null http://www.ebi.ac.uk/efo/EFO_0006779 node EFO_0004421 transcriptome null http://www.ebi.ac.uk/efo/EFO_0004421 node NCBITaxon_321956 Lactobacillus delbrueckii subsp. bulgaricus ATCC BAA-365 null http://purl.obolibrary.org/obo/NCBITaxon_321956 node EFO_0002523 obsolete_preoptic area null http://www.ebi.ac.uk/efo/EFO_0002523 node CLO_0013940 GM17148 null http://purl.obolibrary.org/obo/CLO_0013940 node CHEBI_42491 flavone null http://purl.obolibrary.org/obo/CHEBI_42491 node MONDO_0100030 adolescent/adult-onset epilepsy syndrome This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. http://purl.obolibrary.org/obo/MONDO_0100030 node NCBITaxon_4808 Blastocladiella emersonii null http://purl.obolibrary.org/obo/NCBITaxon_4808 node EFO_0007971 estrone conjugate measurement null http://www.ebi.ac.uk/efo/EFO_0007971 node EFO_0006386 COV644 null http://www.ebi.ac.uk/efo/EFO_0006386 node EFO_0006867 skin conductance level null http://www.ebi.ac.uk/efo/EFO_0006867 node NCBITaxon_28841 Moniezia expansa null http://purl.obolibrary.org/obo/NCBITaxon_28841 node Orphanet_1496 Corpus callosum agenesis - neuronopathy null http://www.orpha.net/ORDO/Orphanet_1496 node EFO_0007709 p-tau:beta-amyloid 1-42 ratio measurement null http://www.ebi.ac.uk/efo/EFO_0007709 node EFO_0004304 blood sedimentation null http://www.ebi.ac.uk/efo/EFO_0004304 node Orphanet_295020 Congenital pseudoarthrosis of the femur null http://www.orpha.net/ORDO/Orphanet_295020 node MONDO_0007844 hypogonadotropic hypogonadism 2 with or without anosmia null http://purl.obolibrary.org/obo/MONDO_0007844 node MONDO_0002839 leather-bottle stomach null http://purl.obolibrary.org/obo/MONDO_0002839 node EFO_0010216 random null http://www.ebi.ac.uk/efo/EFO_0010216 node EFO_0010197 single cell identifier null http://www.ebi.ac.uk/efo/EFO_0010197 node MONDO_0002280 anemia (disease) null http://purl.obolibrary.org/obo/MONDO_0002280 node EFO_0007496 staphylococcal pneumonia null http://www.ebi.ac.uk/efo/EFO_0007496 node EFO_0008901 Safe-SeqS null http://www.ebi.ac.uk/efo/EFO_0008901 node EFO_0006474 PL45 null http://www.ebi.ac.uk/efo/EFO_0006474 node EFO_0006311 obsolete_age-related cataract null http://www.ebi.ac.uk/efo/EFO_0006311 node EFO_0007107 iPS-18c null http://www.ebi.ac.uk/efo/EFO_0007107 node MONDO_0036484 Charcot-Marie-Tooth disease, dominant intermediate G null http://purl.obolibrary.org/obo/MONDO_0036484 node CLO_0030688 ND00151 null http://purl.obolibrary.org/obo/CLO_0030688 node Orphanet_2561 Ackerman syndrome null http://www.orpha.net/ORDO/Orphanet_2561 node Orphanet_99856 Primary syringomyelia null http://www.orpha.net/ORDO/Orphanet_99856 node EFO_0009277 supraventricular ectopy null http://www.ebi.ac.uk/efo/EFO_0009277 node EFO_0010304 frontal pole volume measurement null http://www.ebi.ac.uk/efo/EFO_0010304 node MONDO_0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome null http://purl.obolibrary.org/obo/MONDO_0014369 node GO_0015031 protein transport null http://purl.obolibrary.org/obo/GO_0015031 node EFO_0006357 537 MEL null http://www.ebi.ac.uk/efo/EFO_0006357 node EFO_1000852 carcinoid syndrome null http://www.ebi.ac.uk/efo/EFO_1000852 node MONDO_0060624 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter null http://purl.obolibrary.org/obo/MONDO_0060624 node EFO_0009751 facial asymmetry measurement null http://www.ebi.ac.uk/efo/EFO_0009751 node Orphanet_86309 DPAGT1-CDG null http://www.orpha.net/ORDO/Orphanet_86309 node EFO_0003488 obsolete_apical ectodermal ridge dorsal fin null http://www.ebi.ac.uk/efo/EFO_0003488 node Orphanet_99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K null http://www.orpha.net/ORDO/Orphanet_99944 node EFO_0008520 primary progressive multiple sclerosis null http://www.ebi.ac.uk/efo/EFO_0008520 node Orphanet_2462 Shprintzen-Goldberg syndrome null http://www.orpha.net/ORDO/Orphanet_2462 node Orphanet_79181 Disorder of histidine metabolism null http://www.orpha.net/ORDO/Orphanet_79181 node GO_0014072 response to opiate Note the synym is non exact http://purl.obolibrary.org/obo/GO_0014072 node EFO_0009178 neurofilament light chain measurement null http://www.ebi.ac.uk/efo/EFO_0009178 node EFO_1000940 Frey Syndrome null http://www.ebi.ac.uk/efo/EFO_1000940 node GO_0042748 circadian sleep/wake cycle, non-REM sleep null http://purl.obolibrary.org/obo/GO_0042748 node CL_0000893 thymocyte null http://purl.obolibrary.org/obo/CL_0000893 node EFO_0008792 MAINE-Seq null http://www.ebi.ac.uk/efo/EFO_0008792 node EFO_0009588 feeling "fed-up" measurement null http://www.ebi.ac.uk/efo/EFO_0009588 node Orphanet_281217 Autosomal ichthyosis syndrome null http://www.orpha.net/ORDO/Orphanet_281217 node Orphanet_2714 Oculo-palato-cerebral syndrome null http://www.orpha.net/ORDO/Orphanet_2714 node HP_0009908 Anterior creases of earlobe Shallow grooves or indentations are quite common, especially in large lobes. Ear lobe creases may arise postnatally. Posterior helical pits can be a related finding but should be assessed and coded separately. http://purl.obolibrary.org/obo/HP_0009908 node EFO_1000073 Adenosquamous Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000073 node HP_0003040 Arthropathy null http://purl.obolibrary.org/obo/HP_0003040 node EFO_0003576 obsolete_opercular lateral line neuromast null http://www.ebi.ac.uk/efo/EFO_0003576 node CLO_0014788 GM02783 null http://purl.obolibrary.org/obo/CLO_0014788 node MONDO_0008343 pulmonary atresia with ventricular septal defect null http://purl.obolibrary.org/obo/MONDO_0008343 node HP_0001256 Intellectual disability, mild null http://purl.obolibrary.org/obo/HP_0001256 node BTO_0001093 WEHI-231 cell null http://purl.obolibrary.org/obo/BTO_0001093 node CL_0000981 double negative memory B cell null http://purl.obolibrary.org/obo/CL_0000981 node HP_0008897 Postnatal growth retardation null http://purl.obolibrary.org/obo/HP_0008897 node EFO_0009676 musculoskeletal system disease null http://www.ebi.ac.uk/efo/EFO_0009676 node EFO_0008105 cystatin-SA measurement null http://www.ebi.ac.uk/efo/EFO_0008105 node CHEBI_72651 9-HODE null http://purl.obolibrary.org/obo/CHEBI_72651 node EFO_0004563 Sigma 1278b null http://www.ebi.ac.uk/efo/EFO_0004563 node CHEBI_64526 phosphatidylcholine 38:4 null http://purl.obolibrary.org/obo/CHEBI_64526 node Orphanet_3110 Rombo syndrome null http://www.orpha.net/ORDO/Orphanet_3110 node CHEBI_84634 O-tetradecanoyl-L-carnitine null http://purl.obolibrary.org/obo/CHEBI_84634 node CLO_0014395 GM17255 null http://purl.obolibrary.org/obo/CLO_0014395 node Orphanet_98611 Conjunctival vascular anomaly null http://www.orpha.net/ORDO/Orphanet_98611 node EFO_0008032 basal cell adhesion molecule measurement null http://www.ebi.ac.uk/efo/EFO_0008032 node NCBITaxon_9739 Tursiops truncatus null http://purl.obolibrary.org/obo/NCBITaxon_9739 node EFO_0008409 susceptibility to scarlet fever measurement null http://www.ebi.ac.uk/efo/EFO_0008409 node Orphanet_137888 Auriculocondylar syndrome null http://www.orpha.net/ORDO/Orphanet_137888 node GO_0043209 myelin sheath null http://purl.obolibrary.org/obo/GO_0043209 node EFO_0004784 self reported educational attainment null http://www.ebi.ac.uk/efo/EFO_0004784 node CHEBI_28683 kynurenine null http://purl.obolibrary.org/obo/CHEBI_28683 node EFO_0010451 aconitate measurement null http://www.ebi.ac.uk/efo/EFO_0010451 node EFO_0005831 ML-DmD4-c1 null http://www.ebi.ac.uk/efo/EFO_0005831 node EFO_0009734 unspecified juvenile idiopathic arthritis null http://www.ebi.ac.uk/efo/EFO_0009734 node EFO_0008807 miCLIP-m6A null http://www.ebi.ac.uk/efo/EFO_0008807 node Orphanet_314978 X-linked non progressive cerebellar ataxia null http://www.orpha.net/ORDO/Orphanet_314978 node EFO_0002243 Malme3M null http://www.ebi.ac.uk/efo/EFO_0002243 node EFO_0001316 segmentation 1-4 somites null http://www.ebi.ac.uk/efo/EFO_0001316 node EFO_0003066 obsolete_rib null http://www.ebi.ac.uk/efo/EFO_0003066 node EFO_1000537 Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000537 node Orphanet_35107 Desmosterolosis null http://www.orpha.net/ORDO/Orphanet_35107 node Orphanet_102014 Autosomal dominant limb-girdle muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_102014 node EFO_1000442 Pancreatic Large Cell Neuroendocrine Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000442 node UBERON_0001070 external carotid artery null http://purl.obolibrary.org/obo/UBERON_0001070 node Orphanet_65 Leber congenital amaurosis null http://www.orpha.net/ORDO/Orphanet_65 node EFO_0004872 inflammatory biomarker measurement A container class for inflammatory biomarker measurements, populated by selecting all human proteins annotated with inflammatory response, or a child term, and including measurements of these proteins in this class. Only protein-GO term associations with a curated evidence code were considered, so IEA for e.g. were excluded. http://www.ebi.ac.uk/efo/EFO_0004872 node Orphanet_3238 Cardiospondylocarpofacial syndrome null http://www.orpha.net/ORDO/Orphanet_3238 node MONDO_0004727 vestibule of mouth cancer null http://purl.obolibrary.org/obo/MONDO_0004727 node EFO_0009822 ability to walk or cycle unaided for 10 minutes, self-reported null http://www.ebi.ac.uk/efo/EFO_0009822 node MONDO_0018170 idiopathic nephrotic syndrome null http://purl.obolibrary.org/obo/MONDO_0018170 node Orphanet_314585 15q overgrowth syndrome null http://www.orpha.net/ORDO/Orphanet_314585 node Orphanet_228012 Progressive sensorineural hearing loss - hypertrophic cardiomyopathy Editor note: Orphanet xrefs OMIM:606346 which is DFNA22, check this http://www.orpha.net/ORDO/Orphanet_228012 node EFO_0002331 SKLMS1 null http://www.ebi.ac.uk/efo/EFO_0002331 node EFO_0002126 CAL62 null http://www.ebi.ac.uk/efo/EFO_0002126 node EFO_0000639 papillary cystadenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0000639 node MONDO_0018896 thrombotic thrombocytopenic purpura null http://purl.obolibrary.org/obo/MONDO_0018896 node HP_0000011 Neurogenic bladder Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause. http://purl.obolibrary.org/obo/HP_0000011 node MONDO_0001763 ethmoid sinus cancer null http://purl.obolibrary.org/obo/MONDO_0001763 node Orphanet_3326 Thymic-renal-anal-lung dysplasia null http://www.orpha.net/ORDO/Orphanet_3326 node Orphanet_108987 Syndromic developmental defect of the eye null http://www.orpha.net/ORDO/Orphanet_108987 node Orphanet_95713 Athyreosis null http://www.orpha.net/ORDO/Orphanet_95713 node Orphanet_308467 Disorder of galactose metabolism null http://www.orpha.net/ORDO/Orphanet_308467 node OBI_0001472 specimen with known storage state null http://purl.obolibrary.org/obo/OBI_0001472 node CHEBI_3764 clotrimazole null http://purl.obolibrary.org/obo/CHEBI_3764 node EFO_0006723 OVCA433 null http://www.ebi.ac.uk/efo/EFO_0006723 node NCBITaxon_119602 Streptococcus dysgalactiae subsp. equisimilis null http://purl.obolibrary.org/obo/NCBITaxon_119602 node MONDO_0018605 disorders of pentose/polyol metabolism null http://purl.obolibrary.org/obo/MONDO_0018605 node Orphanet_231183 Usher syndrome type 3 null http://www.orpha.net/ORDO/Orphanet_231183 node EFO_0000246 age null http://www.ebi.ac.uk/efo/EFO_0000246 node Orphanet_199354 CARASIL null http://www.orpha.net/ORDO/Orphanet_199354 node EFO_0010872 HG03159 null http://www.ebi.ac.uk/efo/EFO_0010872 node EFO_0010667 endothelial cell of respiratory system lymphatic vessel Made as a placeholder for AE anatomagrams, term should be requested in CL. http://www.ebi.ac.uk/efo/EFO_0010667 node Orphanet_183586 Genetic glomerular disease null http://www.orpha.net/ORDO/Orphanet_183586 node EFO_0005357 CAL148 null http://www.ebi.ac.uk/efo/EFO_0005357 node EFO_0000059 CS57671 null http://www.ebi.ac.uk/efo/EFO_0000059 node EFO_0006944 systolic blood pressure change measurement null http://www.ebi.ac.uk/efo/EFO_0006944 node Orphanet_206436 Infantile Krabbe disease null http://www.orpha.net/ORDO/Orphanet_206436 node GO_0060455 negative regulation of gastric acid secretion null http://purl.obolibrary.org/obo/GO_0060455 node NCBITaxon_33634 Stramenopiles null http://purl.obolibrary.org/obo/NCBITaxon_33634 node EFO_0007099 iPS-11a null http://www.ebi.ac.uk/efo/EFO_0007099 node Orphanet_169082 Combined immunodeficiency due to CD3gamma deficiency Editor note: check GARD http://www.orpha.net/ORDO/Orphanet_169082 node EFO_0007760 eicosapentaenoic acid measurement null http://www.ebi.ac.uk/efo/EFO_0007760 node HP_0012199 Cluster headache According to the International Classification of Headache Disorders (ICHD-II), the diagnosis of cluster headache can be made with at least five attacks fulfilling criteria B-D: B) Severe or very severe unilateral orbital, supraorbital and/or temporal pain lasting 15-180 minutes if untreated. C) Headache is accompanied by at least 1 of the following: (i) Ipsilateral conjunctival injection and/or lacrimation. (ii) Ipsilateral nasal congestion and/or rhinorrhea. (iii) Ipsilateral eyelid edema. (iv) Ipsilateral forehead and facial sweating. (v) Ipsilateral miosis and/or ptosis. (vi) A sense of restlessness or agitation. D) Attacks have a frequency from 1 every other day to 8/day. Additionally, the headaches cannot attributed to another disorder. http://purl.obolibrary.org/obo/HP_0012199 node MONDO_0021139 congenital or acquired null http://purl.obolibrary.org/obo/MONDO_0021139 node MONDO_0016238 solitary fibrous tumor null http://purl.obolibrary.org/obo/MONDO_0016238 node CHEBI_3647 chlorpromazine null http://purl.obolibrary.org/obo/CHEBI_3647 node Orphanet_2234 Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies null http://www.orpha.net/ORDO/Orphanet_2234 node EFO_1002013 alcoholic pancreatitis null http://www.ebi.ac.uk/efo/EFO_1002013 node Orphanet_2029 Multiple non-ossifying fibromatosis null http://www.orpha.net/ORDO/Orphanet_2029 node EFO_0010274 thoracic aortic artery calcification null http://www.ebi.ac.uk/efo/EFO_0010274 node EFO_1001015 leukoplakia of penis null http://www.ebi.ac.uk/efo/EFO_1001015 node EFO_0007573 HCS data analysis protocol null http://www.ebi.ac.uk/efo/EFO_0007573 node EFO_0010755 barcode size null http://www.ebi.ac.uk/efo/EFO_0010755 node NCBITaxon_5875 Theileria parva null http://purl.obolibrary.org/obo/NCBITaxon_5875 node MONDO_0056802 synovial bursa disease null http://purl.obolibrary.org/obo/MONDO_0056802 node MONDO_0018506 mesenchymal tumor of small intestine null http://purl.obolibrary.org/obo/MONDO_0018506 node EFO_0005445 PEO1 null http://www.ebi.ac.uk/efo/EFO_0005445 node EFO_0000147 CS57858 null http://www.ebi.ac.uk/efo/EFO_0000147 node Orphanet_98870 Congenital dyserythropoietic anemia type III null http://www.orpha.net/ORDO/Orphanet_98870 node Orphanet_1661 X-linked corneal dermoid null http://www.orpha.net/ORDO/Orphanet_1661 node HANCESTRO_0305 genetically isolated ancestry null http://purl.obolibrary.org/obo/HANCESTRO_0305 node Orphanet_98693 Spinocerebellar ataxia with oculomotor anomaly null http://www.orpha.net/ORDO/Orphanet_98693 node CLO_0016675 GM17791 null http://purl.obolibrary.org/obo/CLO_0016675 node EFO_0001971 obsolete_nucleus of terminal stria null http://www.ebi.ac.uk/efo/EFO_0001971 node BFO_0000034 function null http://purl.obolibrary.org/obo/BFO_0000034 node Orphanet_85279 Syndromic X-linked intellectual disability due to JARID1C mutation null http://www.orpha.net/ORDO/Orphanet_85279 node CHEBI_26130 pigment null http://purl.obolibrary.org/obo/CHEBI_26130 node EFO_0008889 Repli-Seq null http://www.ebi.ac.uk/efo/EFO_0008889 node EFO_0010362 lysophosphatidylcholine 20:3 measurement null http://www.ebi.ac.uk/efo/EFO_0010362 node Orphanet_2117 Hartsfield-Bixler-Demyer syndrome null http://www.orpha.net/ORDO/Orphanet_2117 node EFO_0007661 response to lamotrigine null http://www.ebi.ac.uk/efo/EFO_0007661 node Orphanet_77304 Not NOTCH3-related small vessel disease of the brain null http://www.orpha.net/ORDO/Orphanet_77304 node EFO_0001398 obsolete_humerus null http://www.ebi.ac.uk/efo/EFO_0001398 node MONDO_0002618 undifferentiated high grade pleomorphic sarcoma of bone null http://purl.obolibrary.org/obo/MONDO_0002618 node CHEBI_27902 tetracycline null http://purl.obolibrary.org/obo/CHEBI_27902 node GO_0009168 purine ribonucleoside monophosphate biosynthetic process null http://purl.obolibrary.org/obo/GO_0009168 node NCBITaxon_210 Helicobacter pylori null http://purl.obolibrary.org/obo/NCBITaxon_210 node MONDO_0002375 sebaceous adenoma null http://purl.obolibrary.org/obo/MONDO_0002375 node HP_0000505 Visual impairment null http://purl.obolibrary.org/obo/HP_0000505 node Orphanet_26793 Very long chain acyl-CoA dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_26793 node EFO_0007498 Stiff-Person syndrome null http://www.ebi.ac.uk/efo/EFO_0007498 node EFO_0003840 chronic progressive multiple sclerosis null http://www.ebi.ac.uk/efo/EFO_0003840 node Orphanet_452 X-linked lissencephaly with abnormal genitalia null http://www.orpha.net/ORDO/Orphanet_452 node EFO_1000150 Cardiac Rhabdomyoma null http://www.ebi.ac.uk/efo/EFO_1000150 node EFO_1000631 palsy null http://www.ebi.ac.uk/efo/EFO_1000631 node EFO_0007556 primary high content screen null http://www.ebi.ac.uk/efo/EFO_0007556 node MONDO_0001674 diverticulitis of colon null http://purl.obolibrary.org/obo/MONDO_0001674 node EFO_0006629 KYSE-270 null http://www.ebi.ac.uk/efo/EFO_0006629 node EFO_0003653 obsolete_ovarian follicle stage IV null http://www.ebi.ac.uk/efo/EFO_0003653 node HP_0001520 Large for gestational age Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate. http://purl.obolibrary.org/obo/HP_0001520 node CHEBI_9307 succinimide null http://purl.obolibrary.org/obo/CHEBI_9307 node EFO_0009530 anuria null http://www.ebi.ac.uk/efo/EFO_0009530 node EFO_0009279 response to tenofovir null http://www.ebi.ac.uk/efo/EFO_0009279 node Orphanet_309450 Disorder of O-xylosylglycan synthesis null http://www.orpha.net/ORDO/Orphanet_309450 node CHEBI_52640 N-acylethanolamine null http://purl.obolibrary.org/obo/CHEBI_52640 node Orphanet_55596 Autosomal dominant limb-girdle muscular dystrophy type 1G null http://www.orpha.net/ORDO/Orphanet_55596 node NCBITaxon_93929 Thermotoga petrophila null http://purl.obolibrary.org/obo/NCBITaxon_93929 node EFO_0008185 interleukin 5 measurement null http://www.ebi.ac.uk/efo/EFO_0008185 node Orphanet_540 Familial hemophagocytic lymphohistiocytosis Editor note: type 1 split out http://www.orpha.net/ORDO/Orphanet_540 node MONDO_0003455 bile duct papillary neoplasm null http://purl.obolibrary.org/obo/MONDO_0003455 node EFO_0002694 experimental process null http://www.ebi.ac.uk/efo/EFO_0002694 node EFO_0003741 pooled clone sequencing null http://www.ebi.ac.uk/efo/EFO_0003741 node EFO_0007644 embryonic day 9 null http://www.ebi.ac.uk/efo/EFO_0007644 node Orphanet_353 Autosomal recessive limb-girdle muscular dystrophy type 2C null http://www.orpha.net/ORDO/Orphanet_353 node Orphanet_93447 Primary bone dysplasia with defective bone mineralization null http://www.orpha.net/ORDO/Orphanet_93447 node EFO_1000379 Minor Salivary Gland Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000379 node MONDO_0024322 disorder of glycosylation May be inborn or somatic http://purl.obolibrary.org/obo/MONDO_0024322 node CL_0002030 Fc-epsilon RIalpha-high basophil progenitor cell Markers are associated with mouse cells. http://purl.obolibrary.org/obo/CL_0002030 node GO_0009409 response to cold null http://purl.obolibrary.org/obo/GO_0009409 node Orphanet_2809 Familial recurrent peripheral facial palsy null http://www.orpha.net/ORDO/Orphanet_2809 node EFO_0009841 irregular respiration null http://www.ebi.ac.uk/efo/EFO_0009841 node EFO_1000801 alcoholic cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_1000801 node Orphanet_68346 Rare genetic skin disease null http://www.orpha.net/ORDO/Orphanet_68346 node EFO_0002801 SKMC null http://www.ebi.ac.uk/efo/EFO_0002801 node Orphanet_369881 2p21 microdeletion syndrome without cystinuria null http://www.orpha.net/ORDO/Orphanet_369881 node HP_0100257 Ectrodactyly Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severly affected family member is seen. http://purl.obolibrary.org/obo/HP_0100257 node MONDO_0026768 warfarin sensitivity, x-linked null http://purl.obolibrary.org/obo/MONDO_0026768 node HP_0012388 Acute bronchitis null http://purl.obolibrary.org/obo/HP_0012388 node Orphanet_220443 Bleeding diathesis due to thromboxane synthesis deficiency null http://www.orpha.net/ORDO/Orphanet_220443 node NCBITaxon_3067 Volvox carteri null http://purl.obolibrary.org/obo/NCBITaxon_3067 node Orphanet_276432 Premature aging appearance-developmental delay-cardiac arrhythmia syndrome Editor note: check GARD http://www.orpha.net/ORDO/Orphanet_276432 node Orphanet_262767 Partial trisomy of the short arm of chromosome 9 null http://www.orpha.net/ORDO/Orphanet_262767 node EFO_1001792 femoral neck fracture null http://www.ebi.ac.uk/efo/EFO_1001792 node Orphanet_357074 Autosomal recessive cutis laxa type 2, classic type null http://www.orpha.net/ORDO/Orphanet_357074 node Orphanet_320360 Maternally-inherited spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_320360 node UBERON_0003949 tubal tonsil null http://purl.obolibrary.org/obo/UBERON_0003949 node MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome Editor note: check relationship to RA-ILD http://purl.obolibrary.org/obo/MONDO_0014629 node Orphanet_93623 Dent disease type 2 null http://www.orpha.net/ORDO/Orphanet_93623 node Orphanet_307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature null http://www.orpha.net/ORDO/Orphanet_307804 node CL_0000959 T2 B cell T2 B cells are also reportedly CD20-positive, CD24-positive, CD38-positive, CD48-positive, CD84-positive, CD150-positive, CD244-negative, and CD352-positive. http://purl.obolibrary.org/obo/CL_0000959 node EFO_0002549 obsolete_vagus nerve null http://www.ebi.ac.uk/efo/EFO_0002549 node EFO_0004265 peripheral arterial disease null http://www.ebi.ac.uk/efo/EFO_0004265 node EFO_0000960 obsolete_scale null http://www.ebi.ac.uk/efo/EFO_0000960 node EFO_0004109 obsolete_factor type null http://www.ebi.ac.uk/efo/EFO_0004109 node HP_0008846 Severe intrauterine growth retardation null http://purl.obolibrary.org/obo/HP_0008846 node MONDO_0010895 ABCD syndrome null http://purl.obolibrary.org/obo/MONDO_0010895 node MONDO_0016736 rosette-forming glioneuronal tumor of fourth ventricule null http://purl.obolibrary.org/obo/MONDO_0016736 node UBERON_2001054 lateral dorsal aorta null http://purl.obolibrary.org/obo/UBERON_2001054 node Orphanet_96168 Monosomy 13q34 null http://www.orpha.net/ORDO/Orphanet_96168 node EFO_0010082 nerve conduction measurement null http://www.ebi.ac.uk/efo/EFO_0010082 node Orphanet_79279 Alpha-N-acetylgalactosaminidase deficiency type 1 null http://www.orpha.net/ORDO/Orphanet_79279 node MONDO_0002493 prostatic acinar adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0002493 node CHEBI_28445 vincristine null http://purl.obolibrary.org/obo/CHEBI_28445 node EFO_0000411 obsolete_disease state null http://www.ebi.ac.uk/efo/EFO_0000411 node UBERON_0001048 primordium null http://purl.obolibrary.org/obo/UBERON_0001048 node Orphanet_264580 Glycogen storage disease due to liver phosphorylase kinase deficiency null http://www.orpha.net/ORDO/Orphanet_264580 node Orphanet_262959 Partial trisomy of the long arm of chromosome 16 null http://www.orpha.net/ORDO/Orphanet_262959 node EFO_0005522 substrate type null http://www.ebi.ac.uk/efo/EFO_0005522 node UBERON_2001142 tooth 5V null http://purl.obolibrary.org/obo/UBERON_2001142 node EFO_0004418 unit of flow rate null http://www.ebi.ac.uk/efo/EFO_0004418 node Orphanet_79367 Syndromic hair shaft abnormality null http://www.orpha.net/ORDO/Orphanet_79367 node Orphanet_1352 Atrioventricular defect - blepharophimosis -radial defects null http://www.orpha.net/ORDO/Orphanet_1352 node EFO_0001662 ventral null http://www.ebi.ac.uk/efo/EFO_0001662 node EFO_0007968 tissue factor pathway inhibitor measurement null http://www.ebi.ac.uk/efo/EFO_0007968 node GO_0061479 response to reverse transcriptase inhibitor null http://purl.obolibrary.org/obo/GO_0061479 node HANCESTRO_0011 Sub-Saharan African null http://purl.obolibrary.org/obo/HANCESTRO_0011 node Orphanet_183447 Genetic epidermal appendage anomaly null http://www.orpha.net/ORDO/Orphanet_183447 node EFO_0004506 monocyte early outgrowth colony forming unit null http://www.ebi.ac.uk/efo/EFO_0004506 node EFO_0010053 response to cyclosporine null http://www.ebi.ac.uk/efo/EFO_0010053 node EFO_0003020 ILSXISS60/TejJ null http://www.ebi.ac.uk/efo/EFO_0003020 node EFO_0007352 lymphatic system disease Editor note: check alignment to anatomy, consider lymphoid system disease http://www.ebi.ac.uk/efo/EFO_0007352 node NCBITaxon_121541 Senecio chrysanthemifolius null http://purl.obolibrary.org/obo/NCBITaxon_121541 node Orphanet_352731 Oculocutaneous albinism type 1 null http://www.orpha.net/ORDO/Orphanet_352731 node Orphanet_1440 Ring chromosome 14 null http://www.orpha.net/ORDO/Orphanet_1440 node EFO_0007575 blood aluminium measurement null http://www.ebi.ac.uk/efo/EFO_0007575 node CHEBI_63996 N-methyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide null http://purl.obolibrary.org/obo/CHEBI_63996 node Orphanet_2580 Shoulder and girdle defects - familial intellectual disability null http://www.orpha.net/ORDO/Orphanet_2580 node UBERON_0000446 septum of telencephalon null http://purl.obolibrary.org/obo/UBERON_0000446 node MONDO_0024890 pineal parenchymal cell neoplasm null http://purl.obolibrary.org/obo/MONDO_0024890 node Orphanet_98809 Paroxysmal kinesigenic dyskinesia null http://www.orpha.net/ORDO/Orphanet_98809 node EFO_0006308 V6.5 null http://www.ebi.ac.uk/efo/EFO_0006308 node EFO_0000008 CS57541 null http://www.ebi.ac.uk/efo/EFO_0000008 node Orphanet_2558 Mikati-Najjar-Sahli syndrome null http://www.orpha.net/ORDO/Orphanet_2558 node Orphanet_98603 Secretory apparatus of the lacrimal system anomaly null http://www.orpha.net/ORDO/Orphanet_98603 node EFO_0007663 childhood aggressive behaviour measurement null http://www.ebi.ac.uk/efo/EFO_0007663 node HP_0045046 Reduced insulin like growth factor binding protein acid labile subunit level Insulin-like growth factor binding protein, acid labile subunit, also known as IGFALS, is a protein which in humans is encoded by the IGFALS gene. http://purl.obolibrary.org/obo/HP_0045046 node Orphanet_101091 Hyper-IgM syndrome type 4 null http://www.orpha.net/ORDO/Orphanet_101091 node Orphanet_2966 Properdin deficiency null http://www.orpha.net/ORDO/Orphanet_2966 node EFO_0007500 Strongylida infectious disease null http://www.ebi.ac.uk/efo/EFO_0007500 node EFO_0001949 obsolete_muscle null http://www.ebi.ac.uk/efo/EFO_0001949 node Orphanet_309833 Disorder of other vitamins and cofactors metabolism and transport null http://www.orpha.net/ORDO/Orphanet_309833 node CL_0002347 CD27-high, CD11b-high natural killer cell, mouse null http://purl.obolibrary.org/obo/CL_0002347 node NCBITaxon_272630 Methylobacterium extorquens AM1 null http://purl.obolibrary.org/obo/NCBITaxon_272630 node EFO_0004589 brachial circumference null http://www.ebi.ac.uk/efo/EFO_0004589 node Orphanet_79414 Woolly hair nevus null http://www.orpha.net/ORDO/Orphanet_79414 node EFO_0005207 congenital heart disease null http://www.ebi.ac.uk/efo/EFO_0005207 node Orphanet_2646 Parastremmatic dwarfism null http://www.orpha.net/ORDO/Orphanet_2646 node Orphanet_180068 Partial bilateral aplasia of the Müllerian ducts null http://www.orpha.net/ORDO/Orphanet_180068 node EFO_0009444 hypoxia null http://www.ebi.ac.uk/efo/EFO_0009444 node MONDO_0009384 Leydig cell hypoplasia, type 1 null http://purl.obolibrary.org/obo/MONDO_0009384 node CHEBI_25461 myxothiazol null http://purl.obolibrary.org/obo/CHEBI_25461 node Orphanet_758 Pseudoxanthoma elasticum null http://www.orpha.net/ORDO/Orphanet_758 node Orphanet_139455 Autosomal recessive bestrophinopathy null http://www.orpha.net/ORDO/Orphanet_139455 node EFO_0000493 family history null http://www.ebi.ac.uk/efo/EFO_0000493 node Orphanet_2867 Short stature, Brussels type null http://www.orpha.net/ORDO/Orphanet_2867 node NCBITaxon_1363 Lactococcus garvieae null http://purl.obolibrary.org/obo/NCBITaxon_1363 node EFO_1001174 secondary hypertrophic osteoarthropathy null http://www.ebi.ac.uk/efo/EFO_1001174 node EFO_0008350 alpha-linoleic acid measurement null http://www.ebi.ac.uk/efo/EFO_0008350 node CL_0002435 CD69-positive, CD8-positive single-positive thymocyte null http://purl.obolibrary.org/obo/CL_0002435 node HP_0002063 Rigidity Rigidity is often a manifestation of basal ganglia diseases. http://purl.obolibrary.org/obo/HP_0002063 node MONDO_0004593 Bartholin duct cyst null http://purl.obolibrary.org/obo/MONDO_0004593 node EFO_0004677 obsolete_response to anticonvulsant null http://www.ebi.ac.uk/efo/EFO_0004677 node EFO_0000891 obsolete_peripheral nervous system null http://www.ebi.ac.uk/efo/EFO_0000891 node EFO_0009627 collecting specimen from organ postmortem null http://www.ebi.ac.uk/efo/EFO_0009627 node MONDO_0033947 hereditary angioedema with normal C1Inh null http://purl.obolibrary.org/obo/MONDO_0033947 node EFO_0002087 fibrosarcoma null http://www.ebi.ac.uk/efo/EFO_0002087 node Orphanet_325706 Genetic 46,XY disorder of sex development null http://www.orpha.net/ORDO/Orphanet_325706 node EFO_1001395 Phlebitis null http://www.ebi.ac.uk/efo/EFO_1001395 node CLO_0023785 GM10843 null http://purl.obolibrary.org/obo/CLO_0023785 node UBERON_0011153 ventral hyoid arch skeleton null http://purl.obolibrary.org/obo/UBERON_0011153 node Orphanet_846 Alpha-thalassemia synonyms and doid and parent http://www.orpha.net/ORDO/Orphanet_846 node MONDO_0015662 hemorrhagic disorder due to an acquired coagulation factor defect null http://purl.obolibrary.org/obo/MONDO_0015662 node EFO_1001876 animal phobia null http://www.ebi.ac.uk/efo/EFO_1001876 node Orphanet_96 Ataxia with vitamin E deficiency null http://www.orpha.net/ORDO/Orphanet_96 node HP_0001838 Rocker bottom foot Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a "reversed" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis. http://purl.obolibrary.org/obo/HP_0001838 node NCBITaxon_11622 Lassa virus Josiah null http://purl.obolibrary.org/obo/NCBITaxon_11622 node Orphanet_1934 Early infantile epileptic encephalopathy null http://www.orpha.net/ORDO/Orphanet_1934 node Orphanet_238642 Primary megaureter, adult-onset form null http://www.orpha.net/ORDO/Orphanet_238642 node MONDO_0003113 extragonadal germ cell cancer null http://purl.obolibrary.org/obo/MONDO_0003113 node EFO_0004765 visceral adipose tissue measurement null http://www.ebi.ac.uk/efo/EFO_0004765 node MONDO_0020703 erythroid neoplasm null http://purl.obolibrary.org/obo/MONDO_0020703 node Orphanet_295099 Congenital absence of both lower leg and foot, bilateral null http://www.orpha.net/ORDO/Orphanet_295099 node MONDO_0021398 polyp of rectum null http://purl.obolibrary.org/obo/MONDO_0021398 node EFO_1001483 non-obstructive coronary artery disease null http://www.ebi.ac.uk/efo/EFO_1001483 node EFO_0003602 obsolete_lateral wall spinal cord null http://www.ebi.ac.uk/efo/EFO_0003602 node CHEBI_4953 exemestane null http://purl.obolibrary.org/obo/CHEBI_4953 node EFO_1001964 pancreatic somatostatinoma null http://www.ebi.ac.uk/efo/EFO_1001964 node EFO_0009908 glabellar hemangioma null http://www.ebi.ac.uk/efo/EFO_0009908 node EFO_0004986 embryonal carcinoma Editor note: TODO check classification w.r.t carcinoma http://www.ebi.ac.uk/efo/EFO_0004986 node CHEBI_26216 potassium null http://purl.obolibrary.org/obo/CHEBI_26216 node UBERON_0002387 pes null http://purl.obolibrary.org/obo/UBERON_0002387 node MONDO_0001436 hemosiderosis null http://purl.obolibrary.org/obo/MONDO_0001436 node Orphanet_262932 Partial duplication of the long arm of chromosome 13 null http://www.orpha.net/ORDO/Orphanet_262932 node Orphanet_156622 Genetic urogenital tract malformation null http://www.orpha.net/ORDO/Orphanet_156622 node MONDO_0003159 vascular hemostatic disease null http://purl.obolibrary.org/obo/MONDO_0003159 node EFO_0003344 obsolete_tracheal primordium null http://www.ebi.ac.uk/efo/EFO_0003344 node CHEBI_35186 terpene null http://purl.obolibrary.org/obo/CHEBI_35186 node HP_0000107 Renal cyst null http://purl.obolibrary.org/obo/HP_0000107 node Orphanet_306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome null http://www.orpha.net/ORDO/Orphanet_306542 node EFO_0006975 Nossen ecotype null http://www.ebi.ac.uk/efo/EFO_0006975 node Orphanet_101006 Autosomal recessive spastic paraplegia type 26 null http://www.orpha.net/ORDO/Orphanet_101006 node EFO_0009819 comparative body size at age 10, self-reported null http://www.ebi.ac.uk/efo/EFO_0009819 node FBbt_00015256 central brain anlage null http://purl.obolibrary.org/obo/FBbt_00015256 node EFO_0009129 mechanical dissociation null http://www.ebi.ac.uk/efo/EFO_0009129 node EFO_0004381 mole per liter null http://www.ebi.ac.uk/efo/EFO_0004381 node EFO_0003432 obsolete_presumptive midbrain null http://www.ebi.ac.uk/efo/EFO_0003432 node EFO_0002328 SHP77 null http://www.ebi.ac.uk/efo/EFO_0002328 node CL_0000679 glutamatergic neuron null http://purl.obolibrary.org/obo/CL_0000679 node EFO_0000178 gastric carcinoma null http://www.ebi.ac.uk/efo/EFO_0000178 node OMIT_0001676 Adenosine Diphosphate null http://purl.obolibrary.org/obo/OMIT_0001676 node HP_0000008 Abnormal morphology of female internal genitalia null http://purl.obolibrary.org/obo/HP_0000008 node UBERON_0002082 cardiac ventricle null http://purl.obolibrary.org/obo/UBERON_0002082 node EFO_0006876 seasonality measurement null http://www.ebi.ac.uk/efo/EFO_0006876 node NCBITaxon_33085 Entamoeba invadens null http://purl.obolibrary.org/obo/NCBITaxon_33085 node MONDO_0018758 familial patent arterial duct null http://purl.obolibrary.org/obo/MONDO_0018758 node EFO_0000399 developmental stage This branch will be replaced by, and if necessary merged with an Uberon import in future. http://www.ebi.ac.uk/efo/EFO_0000399 node Orphanet_96152 Distal monosomy 20q null http://www.orpha.net/ORDO/Orphanet_96152 node EFO_0003818 lung disease null http://www.ebi.ac.uk/efo/EFO_0003818 node EFO_0004282 thoracic aortic aneurysm null http://www.ebi.ac.uk/efo/EFO_0004282 node EFO_0010869 HG03108 null http://www.ebi.ac.uk/efo/EFO_0010869 node UBERON_0005366 olfactory lobe null http://purl.obolibrary.org/obo/UBERON_0005366 node CL_0000767 basophil Matures in the bone marrow and account for <1% of leukocytes in the peripheral blood, spleen, and bone marrow. Basophils are described as being CD11a-positive, CD11b-positive, CD13-positive, CD15-positive, CD18-positive, CD21-positive, CD25-positive, CD29-positive, CD35-positive, CD40-positive, CD40L-positive, CD44-positive, CD45R-negative, CD46-positive, CD49a-positive, CD49b-positive, CD49d-positive, CD55-positive, CD59-positive, CD62L-positive, CD63-positive, CD69-positive, CD90-negative, CD116-positive, CD117-negative, CD124-positive, CD125-positive, CD131-positive, CD161-positive, CD184-positive, CD191-positive, CD192-positive, CD197-positive, CD200R3-positive, CD218-positive, CD282-positive, CD284-positive, CD289-positive, CD290-positive, CD294-positive, natural killer cell receptor 2B4-positive, smad1-positive, CD3-negative, CD4-negative, CD7-negative, CD8-negative, CD14-negative, CD15-negative, CD16-negative, CD19-negative, CD20-negative, CD34-negative, CD36-negative, CD45R-negative, CD56-negative, CD57-negative, CD235a-negative, and GR1-negative. Transcription factors- GATA1-positive, PU.1-positive. http://purl.obolibrary.org/obo/CL_0000767 node MONDO_0007902 lichen planus, familial null http://purl.obolibrary.org/obo/MONDO_0007902 node CHEBI_28938 ammonium null http://purl.obolibrary.org/obo/CHEBI_28938 node Orphanet_98984 Pulverulent cataract null http://www.orpha.net/ORDO/Orphanet_98984 node Orphanet_1067 Aniridia - ptosis - intellectual disability - familial obesity null http://www.orpha.net/ORDO/Orphanet_1067 node CHEBI_35444 antinematodal drug null http://purl.obolibrary.org/obo/CHEBI_35444 node EFO_0005301 reading and spelling ability null http://www.ebi.ac.uk/efo/EFO_0005301 node NCBITaxon_7957 Carassius auratus null http://purl.obolibrary.org/obo/NCBITaxon_7957 node CHEBI_50469 phospholipase A2 inhibitor null http://purl.obolibrary.org/obo/CHEBI_50469 node EFO_0003906 heart valve prosthesis null http://www.ebi.ac.uk/efo/EFO_0003906 node Orphanet_71493 Familial thrombocytosis null http://www.orpha.net/ORDO/Orphanet_71493 node EFO_1000216 Diffuse Melanocytosis null http://www.ebi.ac.uk/efo/EFO_1000216 node MONDO_0019191 IgG4-related dacryoadenitis and sialadenitis null http://purl.obolibrary.org/obo/MONDO_0019191 node NCBITaxon_413997 Escherichia coli B str. REL606 null http://purl.obolibrary.org/obo/NCBITaxon_413997 node UBERON_0001301 epididymis null http://purl.obolibrary.org/obo/UBERON_0001301 node CL_0000169 type B pancreatic cell Pancreatic beta cells are also reportedly CD284-positive. Upon activation, they upregulate their CD14 expression. http://purl.obolibrary.org/obo/CL_0000169 node EFO_0003719 obsolete_liver (Pongo pygmaeus) null http://www.ebi.ac.uk/efo/EFO_0003719 node EFO_0010313 limbic lobe volume measurement null http://www.ebi.ac.uk/efo/EFO_0010313 node Orphanet_97360 Robinow syndrome null http://www.orpha.net/ORDO/Orphanet_97360 node UBERON_0004913 hepatopancreatic ampulla null http://purl.obolibrary.org/obo/UBERON_0004913 node GO_1990054 response to temozolomide null http://purl.obolibrary.org/obo/GO_1990054 node Orphanet_33001 Lymphedema - distichiasis null http://www.orpha.net/ORDO/Orphanet_33001 node Orphanet_1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia null http://www.orpha.net/ORDO/Orphanet_1010 node EFO_1000304 Intestinal Type Adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000304 node CL_0002155 echinocyte null http://purl.obolibrary.org/obo/CL_0002155 node Orphanet_2454 Familial intestinal malrotation - facial anomalies null http://www.orpha.net/ORDO/Orphanet_2454 node EFO_0007449 pneumonic pasteurellosis null http://www.ebi.ac.uk/efo/EFO_0007449 node Orphanet_2249 Ulna hypoplasia - intellectual disability null http://www.orpha.net/ORDO/Orphanet_2249 node CHEBI_379896 methyltrienolone null http://purl.obolibrary.org/obo/CHEBI_379896 node CHEBI_15428 glycine null http://purl.obolibrary.org/obo/CHEBI_15428 node MONDO_0002078 heart septal defect null http://purl.obolibrary.org/obo/MONDO_0002078 node Orphanet_566 Congenital microcoria null http://www.orpha.net/ORDO/Orphanet_566 node Orphanet_280384 Recessive intellectual disability - motor dysfunction - multiple joint contractures null http://www.orpha.net/ORDO/Orphanet_280384 node EO_0007404 drought environment null http://purl.obolibrary.org/obo/EO_0007404 node NCBITaxon_10029 Cricetulus griseus null http://purl.obolibrary.org/obo/NCBITaxon_10029 node NCBITaxon_5530 Metarhizium anisopliae null http://purl.obolibrary.org/obo/NCBITaxon_5530 node NCBITaxon_633 Yersinia pseudotuberculosis null http://purl.obolibrary.org/obo/NCBITaxon_633 node EFO_0007917 response to tetracyclic antidepressant null http://www.ebi.ac.uk/efo/EFO_0007917 node EFO_0002995 ILSXISS86/TejJ null http://www.ebi.ac.uk/efo/EFO_0002995 node EFO_0003837 calcification null http://www.ebi.ac.uk/efo/EFO_0003837 node Orphanet_654 Nephroblastoma null http://www.orpha.net/ORDO/Orphanet_654 node EFO_0001424 obsolete_masseter muscle null http://www.ebi.ac.uk/efo/EFO_0001424 node HP_0000194 Open mouth null http://purl.obolibrary.org/obo/HP_0000194 node Orphanet_363989 Familial benign flecked retina null http://www.orpha.net/ORDO/Orphanet_363989 node NCBITaxon_74546 Prochlorococcus marinus str. MIT 9312 null http://purl.obolibrary.org/obo/NCBITaxon_74546 node MONDO_0024623 otorhinolaryngologic disease Editor note: consider uberon class http://purl.obolibrary.org/obo/MONDO_0024623 node Orphanet_329191 Tall stature - scoliosis - macrodactyly of the great toes null http://www.orpha.net/ORDO/Orphanet_329191 node EFO_0008041 C-C motif chemokine 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008041 node NCBITaxon_10117 Rattus rattus null http://purl.obolibrary.org/obo/NCBITaxon_10117 node HP_0005639 Hyperextensible hand joints null http://purl.obolibrary.org/obo/HP_0005639 node EFO_0009694 beta-lactam allergy measurement null http://www.ebi.ac.uk/efo/EFO_0009694 node UBERON_0001295 endometrium null http://purl.obolibrary.org/obo/UBERON_0001295 node GO_0006139 nucleobase-containing compound metabolic process null http://purl.obolibrary.org/obo/GO_0006139 node UBERON_0001880 bed nucleus of stria terminalis null http://purl.obolibrary.org/obo/UBERON_0001880 node NCBITaxon_8081 Poecilia reticulata null http://purl.obolibrary.org/obo/NCBITaxon_8081 node EFO_0008745 Frag-seq null http://www.ebi.ac.uk/efo/EFO_0008745 node HP_0000282 Facial edema null http://purl.obolibrary.org/obo/HP_0000282 node EFO_0001254 U266 null http://www.ebi.ac.uk/efo/EFO_0001254 node GO_0003014 renal system process null http://purl.obolibrary.org/obo/GO_0003014 node EFO_0001077 Pseudomonas aeruginosa CF5 infection null http://www.ebi.ac.uk/efo/EFO_0001077 node EFO_1000883 coronary thrombosis null http://www.ebi.ac.uk/efo/EFO_1000883 node MONDO_0001314 chondrocalcinosis null http://purl.obolibrary.org/obo/MONDO_0001314 node Orphanet_99749 Kostmann syndrome null http://www.orpha.net/ORDO/Orphanet_99749 node Orphanet_144 Lynch syndrome Editor note: check relationship to HNPPC http://www.orpha.net/ORDO/Orphanet_144 node GO_0007154 cell communication null http://purl.obolibrary.org/obo/GO_0007154 node Orphanet_88949 Autosomal dominant medullary cystic kidney disease without hyperuricemia null http://www.orpha.net/ORDO/Orphanet_88949 node Orphanet_34526 Familial primary hypomagnesemia null http://www.orpha.net/ORDO/Orphanet_34526 node EFO_0009782 progesterone-receptor positive breast cancer null http://www.ebi.ac.uk/efo/EFO_0009782 node EFO_0008833 nuc-ChIP-seq null http://www.ebi.ac.uk/efo/EFO_0008833 node EFO_0002340 SKOV3 null http://www.ebi.ac.uk/efo/EFO_0002340 node EFO_0004538 obsolete_bronchopulmonary dysplasia null http://www.ebi.ac.uk/efo/EFO_0004538 node EFO_0009595 guilt measurement null http://www.ebi.ac.uk/efo/EFO_0009595 node Orphanet_141258 Tessier number 4 facial cleft null http://www.orpha.net/ORDO/Orphanet_141258 node EFO_0000648 period of infection null http://www.ebi.ac.uk/efo/EFO_0000648 node Orphanet_369920 Pontocerebellar hypoplasia type 9 null http://www.orpha.net/ORDO/Orphanet_369920 node Orphanet_1069 Aniridia - absent patella null http://www.orpha.net/ORDO/Orphanet_1069 node EFO_1000080 Anal Melanoma Editor note: TODO relationship to mucosa http://www.ebi.ac.uk/efo/EFO_1000080 node EFO_0002291 NCI-H358 null http://www.ebi.ac.uk/efo/EFO_0002291 node HP_0000020 Urinary incontinence Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. http://purl.obolibrary.org/obo/HP_0000020 node CHEBI_143619 triacylglycerol 58:12 null http://purl.obolibrary.org/obo/CHEBI_143619 node EFO_1000971 hyperemesis gravidarum null http://www.ebi.ac.uk/efo/EFO_1000971 node EFO_0009411 CCL13 measurement null http://www.ebi.ac.uk/efo/EFO_0009411 node EFO_0009206 Free Hemoglobin Measurement null http://www.ebi.ac.uk/efo/EFO_0009206 node Orphanet_93259 Pfeiffer syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_93259 node EFO_0000442 obsolete_embryonic central brain glia null http://www.ebi.ac.uk/efo/EFO_0000442 node Orphanet_8 47,XYY syndrome null http://www.orpha.net/ORDO/Orphanet_8 node EFO_1000784 microscopic polyangiitis null http://www.ebi.ac.uk/efo/EFO_1000784 node EFO_1001123 primary Anaplasmataceae infectious disease null http://www.ebi.ac.uk/efo/EFO_1001123 node CLO_0015081 GM17132 null http://purl.obolibrary.org/obo/CLO_0015081 node EFO_0005553 eccrine sweat gland cancer null http://www.ebi.ac.uk/efo/EFO_0005553 node EFO_0004626 IGFBP-3 measurement null http://www.ebi.ac.uk/efo/EFO_0004626 node EFO_0000255 angioimmunoblastic T-cell lymphoma null http://www.ebi.ac.uk/efo/EFO_0000255 node MONDO_0021651 synpolydactyly null http://purl.obolibrary.org/obo/MONDO_0021651 node EFO_1000019 breast synovial sarcoma null http://www.ebi.ac.uk/efo/EFO_1000019 node EFO_0000736 well-differentiated liposarcoma null http://www.ebi.ac.uk/efo/EFO_0000736 node EFO_0003123 NCI-H3255 null http://www.ebi.ac.uk/efo/EFO_0003123 node Orphanet_1742 Trisomy 5p null http://www.orpha.net/ORDO/Orphanet_1742 node UBERON_0008337 inguinal part of abdomen null http://purl.obolibrary.org/obo/UBERON_0008337 node EFO_0005366 CCD-33Lu null http://www.ebi.ac.uk/efo/EFO_0005366 node CHEBI_3387 carbamazepine null http://purl.obolibrary.org/obo/CHEBI_3387 node EFO_0001728 array manufacturer null http://www.ebi.ac.uk/efo/EFO_0001728 node EFO_1001344 Hemarthrosis null http://www.ebi.ac.uk/efo/EFO_1001344 node EFO_1001825 pleurisy null http://www.ebi.ac.uk/efo/EFO_1001825 node EFO_0005774 brain disease Editor note: NCIT has different classes for brain disease and encephalopathy http://www.ebi.ac.uk/efo/EFO_0005774 node MONDO_0020285 transposition of the great arteries and conotruncal cardiac anomaly null http://purl.obolibrary.org/obo/MONDO_0020285 node EFO_0004847 age at onset null http://www.ebi.ac.uk/efo/EFO_0004847 node Orphanet_93347 Anauxetic dysplasia Editor note: consider distinct subclass for type 1 http://www.orpha.net/ORDO/Orphanet_93347 node CHEBI_9925 sodium valproate null http://purl.obolibrary.org/obo/CHEBI_9925 node EFO_0010443 triacylglycerol 58:9 measurement null http://www.ebi.ac.uk/efo/EFO_0010443 node EFO_0007999 lower body strength measurement null http://www.ebi.ac.uk/efo/EFO_0007999 node EFO_0000343 obsolete_cingulate cortex null http://www.ebi.ac.uk/efo/EFO_0000343 node EFO_1001024 Lutembacher's syndrome null http://www.ebi.ac.uk/efo/EFO_1001024 node EFO_0010266 Charcot-Marie-Tooth disease type 1G null http://www.ebi.ac.uk/efo/EFO_0010266 node MONDO_0001903 calcific tendinitis null http://purl.obolibrary.org/obo/MONDO_0001903 node UBERON_2001256 lateral floor plate null http://purl.obolibrary.org/obo/UBERON_2001256 node Orphanet_97297 Bohring-Opitz syndrome null http://www.orpha.net/ORDO/Orphanet_97297 node Orphanet_1830 Schimke immuno-osseous dysplasia null http://www.orpha.net/ORDO/Orphanet_1830 node EFO_0009100 social domain measurement null http://www.ebi.ac.uk/efo/EFO_0009100 node EFO_0005454 SHEF-1 null http://www.ebi.ac.uk/efo/EFO_0005454 node MONDO_0024882 secondary neoplasm Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. http://purl.obolibrary.org/obo/MONDO_0024882 node EFO_0010079 corneal endothelial cell measurement null http://www.ebi.ac.uk/efo/EFO_0010079 node Orphanet_1653 Dentin dysplasia null http://www.orpha.net/ORDO/Orphanet_1653 node EFO_1001432 Tachycardia, Reciprocating null http://www.ebi.ac.uk/efo/EFO_1001432 node EFO_0001148 GM12717 null http://www.ebi.ac.uk/efo/EFO_0001148 node EFO_0005862 embryonic stage 3 Temporal ordering number - 140. http://www.ebi.ac.uk/efo/EFO_0005862 node EFO_0004935 N3 lymph node stage null http://www.ebi.ac.uk/efo/EFO_0004935 node EFO_0000564 leiomyosarcoma null http://www.ebi.ac.uk/efo/EFO_0000564 node UBERON_0002336 corpus callosum null http://purl.obolibrary.org/obo/UBERON_0002336 node NCBITaxon_209261 Salmonella enterica subsp. enterica serovar Typhi str. Ty2 null http://purl.obolibrary.org/obo/NCBITaxon_209261 node MONDO_0018233 otopalatodigital syndrome spectrum disorder null http://purl.obolibrary.org/obo/MONDO_0018233 node Orphanet_1466 COFS syndrome null http://www.orpha.net/ORDO/Orphanet_1466 node CHEBI_15193 tartrate(2-) null http://purl.obolibrary.org/obo/CHEBI_15193 node CL_0000932 type II NK T cell secreting interferon-gamma null http://purl.obolibrary.org/obo/CL_0000932 node HP_0025095 Sneeze null http://purl.obolibrary.org/obo/HP_0025095 node MONDO_0032890 neuromuscular disease and ocular or auditory anomalies with or without seizures null http://purl.obolibrary.org/obo/MONDO_0032890 node EFO_0010167 squalene synthase deficiency null http://www.ebi.ac.uk/efo/EFO_0010167 node MONDO_0010127 thymoma, familial null http://purl.obolibrary.org/obo/MONDO_0010127 node EFO_0004061 TR403 null http://www.ebi.ac.uk/efo/EFO_0004061 node CL_0000065 ependymal cell null http://purl.obolibrary.org/obo/CL_0000065 node Orphanet_399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism null http://www.orpha.net/ORDO/Orphanet_399839 node Orphanet_261519 Maternal uniparental disomy of chromosome X null http://www.orpha.net/ORDO/Orphanet_261519 node EFO_0005950 head and neck neoplasia null http://www.ebi.ac.uk/efo/EFO_0005950 node NCBITaxon_3708 Brassica napus null http://purl.obolibrary.org/obo/NCBITaxon_3708 node MONDO_0044725 combined immunodeficiency due to GINS1 deficiency null http://purl.obolibrary.org/obo/MONDO_0044725 node EFO_0007713 3 hr schistosomulum null http://www.ebi.ac.uk/efo/EFO_0007713 node EFO_0001659 right null http://www.ebi.ac.uk/efo/EFO_0001659 node HP_0012332 Abnormal autonomic nervous system physiology null http://purl.obolibrary.org/obo/HP_0012332 node Orphanet_90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_90791 node HP_0008936 Muscular hypotonia of the trunk null http://purl.obolibrary.org/obo/HP_0008936 node HP_0020174 Refractory drug response null http://purl.obolibrary.org/obo/HP_0020174 node EFO_0004121 obsolete_achondroplasia null http://www.ebi.ac.uk/efo/EFO_0004121 node NCBITaxon_37682 Aegilops tauschii null http://purl.obolibrary.org/obo/NCBITaxon_37682 node GO_0098900 regulation of action potential The ion channels through which current flows during an action potential should be annotated to the process 'action potential'. Gene products involved in modulating the characteristics of an action potential via changing the expression levels or the activity of these channels (e.g. modulating their kinetics or voltage sensitivity) should be annotated to this regulation term. http://purl.obolibrary.org/obo/GO_0098900 node EFO_0003017 transitional cell carcinoma of kidney null http://www.ebi.ac.uk/efo/EFO_0003017 node UBERON_0002031 epithelium of bronchus null http://purl.obolibrary.org/obo/UBERON_0002031 node CHEBI_50646 bone density conservation agent null http://purl.obolibrary.org/obo/CHEBI_50646 node MONDO_0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 null http://purl.obolibrary.org/obo/MONDO_0029135 node Orphanet_98597 Eyelashes hypertrophy null http://www.orpha.net/ORDO/Orphanet_98597 node Orphanet_217595 Syndrome associated with hypertrophic cardiomyopathy null http://www.orpha.net/ORDO/Orphanet_217595 node EFO_0007801 lycopene measurement null http://www.ebi.ac.uk/efo/EFO_0007801 node Orphanet_248305 Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency Editor note: TODO find relevant GO class http://www.orpha.net/ORDO/Orphanet_248305 node EFO_0006567 obsolete_E14Tg2a null http://www.ebi.ac.uk/efo/EFO_0006567 node EFO_0007614 asthma exacerbation measurement null http://www.ebi.ac.uk/efo/EFO_0007614 node MONDO_0037254 transitional cell neoplasm null http://purl.obolibrary.org/obo/MONDO_0037254 node EFO_0010818 sensory perception of dietary content null http://www.ebi.ac.uk/efo/EFO_0010818 node MONDO_0009734 hyperinsulinemic hypoglycemia, familial, 1 null http://purl.obolibrary.org/obo/MONDO_0009734 node Orphanet_731 Autosomal recessive polycystic kidney disease null http://www.orpha.net/ORDO/Orphanet_731 node NCBITaxon_160699 Agrobacterium larrymoorei null http://purl.obolibrary.org/obo/NCBITaxon_160699 node Orphanet_98756 Spinocerebellar ataxia type 2 null http://www.orpha.net/ORDO/Orphanet_98756 node EFO_0009094 idiopathic dilated cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_0009094 node EFO_1000499 Prostate Small Cell Carcinoma Editor note: DO classifies as lung oat cell carcinoma http://www.ebi.ac.uk/efo/EFO_1000499 node Orphanet_35069 Infantile neuroaxonal dystrophy Editor note: check PLA2G6 http://www.orpha.net/ORDO/Orphanet_35069 node EFO_0009961 Insulinogenic index measurement null http://www.ebi.ac.uk/efo/EFO_0009961 node EFO_0006655 MOR null http://www.ebi.ac.uk/efo/EFO_0006655 node MONDO_0020845 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 null http://purl.obolibrary.org/obo/MONDO_0020845 node NCBITaxon_7719 Ciona intestinalis null http://purl.obolibrary.org/obo/NCBITaxon_7719 node Orphanet_353298 Roifman syndrome null http://www.orpha.net/ORDO/Orphanet_353298 node BTO_0001679 obsolete_Th2-cell null http://purl.obolibrary.org/obo/BTO_0001679 node MONDO_0003608 optic atrophy null http://purl.obolibrary.org/obo/MONDO_0003608 node EFO_0009182 psychotic symptom measurement null http://www.ebi.ac.uk/efo/EFO_0009182 node NCBITaxon_3879 Medicago sativa null http://purl.obolibrary.org/obo/NCBITaxon_3879 node EFO_1000587 Thyroid Gland Diffuse Large B-Cell Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000587 node EFO_1000606 Undifferentiated Pancreatic Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000606 node EFO_0007233 diaphragm disease null http://www.ebi.ac.uk/efo/EFO_0007233 node EFO_0007028 SD minus nitrogen null http://www.ebi.ac.uk/efo/EFO_0007028 node HP_0004481 Progressive macrocephaly null http://purl.obolibrary.org/obo/HP_0004481 node Orphanet_401874 Fatal multiple mitochondrial dysfunction syndrome type 2 null http://www.orpha.net/ORDO/Orphanet_401874 node UBERON_0001516 abdominal aorta null http://purl.obolibrary.org/obo/UBERON_0001516 node CHEBI_46345 5-fluorouracil null http://purl.obolibrary.org/obo/CHEBI_46345 node EFO_0003375 obsolete_visual anlage in statu nascendi null http://www.ebi.ac.uk/efo/EFO_0003375 node HP_0000818 Abnormality of the endocrine system The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions. http://purl.obolibrary.org/obo/HP_0000818 node HP_0100033 Tics Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing. Movements of other movement disorders (for example, chorea, dystonia, myoclonus) must be distinguished from tics. Other conditions, such as autism and stereotypic movement disorder, also include movements which may be confused with tics. Tics must also be distinguished from the compulsions of OCD and from seizure activity. Tics may increase as a result of stress, fatigue, boredom, or high-energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement or anticipation. Relaxation may result in a tic increase (for instance, watching television or using a computer), while concentration on an absorbing activity often leads to a decrease in tics. http://purl.obolibrary.org/obo/HP_0100033 node EFO_0009065 calcium oxalate urolithiasis null http://www.ebi.ac.uk/efo/EFO_0009065 node Orphanet_109011 Non-syndromic limb malformation null http://www.orpha.net/ORDO/Orphanet_109011 node EFO_0003596 obsolete_rhombomere 3 null http://www.ebi.ac.uk/efo/EFO_0003596 node EFO_0002669 ENBREL null http://www.ebi.ac.uk/efo/EFO_0002669 node EFO_0007116 UCSF4 null http://www.ebi.ac.uk/efo/EFO_0007116 node Orphanet_34217 Naxos disease null http://www.orpha.net/ORDO/Orphanet_34217 node EFO_0005570 oral cavity cancer null http://www.ebi.ac.uk/efo/EFO_0005570 node EFO_0009473 hemolysis null http://www.ebi.ac.uk/efo/EFO_0009473 node MONDO_0015659 infectious disease with epilepsy null http://purl.obolibrary.org/obo/MONDO_0015659 node Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy null http://www.orpha.net/ORDO/Orphanet_257 node EFO_0000063 CS57699 null http://www.ebi.ac.uk/efo/EFO_0000063 node EFO_0009286 heart relative wall thickness null http://www.ebi.ac.uk/efo/EFO_0009286 node Orphanet_281122 Self-healing collodion baby null http://www.orpha.net/ORDO/Orphanet_281122 node CL_0002005 CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell Markers are associated with human cell type. http://purl.obolibrary.org/obo/CL_0002005 node Orphanet_3208 Isolated succinate-CoQ reductase deficiency null http://www.orpha.net/ORDO/Orphanet_3208 node EFO_0003276 vascular endothelial growth factor null http://www.ebi.ac.uk/efo/EFO_0003276 node EFO_1000181 Clear Cell Papillary Cystadenoma null http://www.ebi.ac.uk/efo/EFO_1000181 node EFO_0003684 obsolete_ventral hyoid arch null http://www.ebi.ac.uk/efo/EFO_0003684 node EFO_0002757 high fat diet null http://www.ebi.ac.uk/efo/EFO_0002757 node EFO_0007204 chickenpox null http://www.ebi.ac.uk/efo/EFO_0007204 node Orphanet_293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome null http://www.orpha.net/ORDO/Orphanet_293958 node MONDO_0016055 syndrome with corpus callosum agenesis /dysgenesis as a major feature null http://purl.obolibrary.org/obo/MONDO_0016055 node EFO_0000151 CS57871 null http://www.ebi.ac.uk/efo/EFO_0000151 node EFO_0009374 energy intake measurement null http://www.ebi.ac.uk/efo/EFO_0009374 node Orphanet_93439 Bent bone dysplasia null http://www.orpha.net/ORDO/Orphanet_93439 node Orphanet_247868 NLRP12-associated hereditary periodic fever syndrome null http://www.orpha.net/ORDO/Orphanet_247868 node NCBITaxon_8030 Salmo salar null http://purl.obolibrary.org/obo/NCBITaxon_8030 node MONDO_0060758 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits null http://purl.obolibrary.org/obo/MONDO_0060758 node EFO_1000082 Anaplastic (Malignant) Meningioma null http://www.ebi.ac.uk/efo/EFO_1000082 node CHEBI_17347 testosterone null http://purl.obolibrary.org/obo/CHEBI_17347 node EFO_0002130 CESS null http://www.ebi.ac.uk/efo/EFO_0002130 node EFO_0001203 MCF-7 null http://www.ebi.ac.uk/efo/EFO_0001203 node EFO_0000034 CS57616 null http://www.ebi.ac.uk/efo/EFO_0000034 node NCBITaxon_212042 Anaplasma phagocytophilum HZ null http://purl.obolibrary.org/obo/NCBITaxon_212042 node HP_0001265 Hyporeflexia null http://purl.obolibrary.org/obo/HP_0001265 node EFO_0001026 obsolete_sepal null http://www.ebi.ac.uk/efo/EFO_0001026 node Orphanet_308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form null http://www.orpha.net/ORDO/Orphanet_308712 node CHEBI_85729 triacylglycerol 50:3 null http://purl.obolibrary.org/obo/CHEBI_85729 node Orphanet_168569 H syndrome null http://www.orpha.net/ORDO/Orphanet_168569 node MONDO_0021194 disease by subcellular system affected null http://purl.obolibrary.org/obo/MONDO_0021194 node CHEBI_18406 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide null http://purl.obolibrary.org/obo/CHEBI_18406 node CL_0000623 natural killer cell null http://purl.obolibrary.org/obo/CL_0000623 node Orphanet_96149 Distal monosomy 12q null http://www.orpha.net/ORDO/Orphanet_96149 node CHEBI_17833 gentamicin null http://purl.obolibrary.org/obo/CHEBI_17833 node EFO_0006385 COV504 null http://www.ebi.ac.uk/efo/EFO_0006385 node Orphanet_228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M null http://www.orpha.net/ORDO/Orphanet_228179 node CHEBI_32168 sulpiride null http://purl.obolibrary.org/obo/CHEBI_32168 node NCBITaxon_5529 Metarhizium null http://purl.obolibrary.org/obo/NCBITaxon_5529 node Orphanet_2196 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement null http://www.orpha.net/ORDO/Orphanet_2196 node NCBITaxon_300852 Thermus thermophilus HB8 null http://purl.obolibrary.org/obo/NCBITaxon_300852 node MONDO_0021095 parkinsonian disorder Editor note: TODO http://purl.obolibrary.org/obo/MONDO_0021095 node MONDO_0000956 small intestine cancer null http://purl.obolibrary.org/obo/MONDO_0000956 node Orphanet_268882 Arnold-Chiari malformation type I null http://www.orpha.net/ORDO/Orphanet_268882 node Orphanet_1106 Microphthalmia with limb anomalies null http://www.orpha.net/ORDO/Orphanet_1106 node CL_0000711 cumulus cell null http://purl.obolibrary.org/obo/CL_0000711 node Orphanet_363727 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia null http://www.orpha.net/ORDO/Orphanet_363727 node EFO_0006473 PL-21 null http://www.ebi.ac.uk/efo/EFO_0006473 node MONDO_0008565 familial thyroglossal duct cyst null http://purl.obolibrary.org/obo/MONDO_0008565 node MONDO_0100087 familial Alzheimer disease null http://purl.obolibrary.org/obo/MONDO_0100087 node CL_0002087 nongranular leukocyte null http://purl.obolibrary.org/obo/CL_0002087 node Orphanet_1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type null http://www.orpha.net/ORDO/Orphanet_1808 node Orphanet_85283 X-linked intellectual disability, Miles-Carpenter type null http://www.orpha.net/ORDO/Orphanet_85283 node EFO_0009898 10x v3 sequencing null http://www.ebi.ac.uk/efo/EFO_0009898 node CHEBI_76273 dodecanedioate(2-) null http://purl.obolibrary.org/obo/CHEBI_76273 node EFO_0010028 STAP-seq null http://www.ebi.ac.uk/efo/EFO_0010028 node EFO_0008254 P-Selectin measurement null http://www.ebi.ac.uk/efo/EFO_0008254 node EFO_0007305 hepatitis A virus infection null http://www.ebi.ac.uk/efo/EFO_0007305 node Orphanet_3261 Autoimmune lymphoproliferative syndrome null http://www.orpha.net/ORDO/Orphanet_3261 node EFO_0010509 maleate measurement null http://www.ebi.ac.uk/efo/EFO_0010509 node EFO_0001197 Kin-S49 null http://www.ebi.ac.uk/efo/EFO_0001197 node Orphanet_3074 Intellectual disability - short stature - hypertelorism null http://www.orpha.net/ORDO/Orphanet_3074 node MONDO_0100175 TTN-related myopathy In the absence of evidence supporting distinct differences in molecular mechanisms between the associated disease entities, as well as considerable phenotypic overlap, these entities can be considered part of a clinical spectrum of TTN-related myopathy. http://purl.obolibrary.org/obo/MONDO_0100175 node Orphanet_85166 Platyspondylic dysplasia, Torrance type null http://www.orpha.net/ORDO/Orphanet_85166 node MONDO_0018614 undetermined early-onset epileptic encephalopathy null http://purl.obolibrary.org/obo/MONDO_0018614 node MONDO_0003865 acral lentiginous melanoma (disease) Editor note: check ONCOTREE mapping http://purl.obolibrary.org/obo/MONDO_0003865 node EFO_0008958 TAB-Seq null http://www.ebi.ac.uk/efo/EFO_0008958 node MONDO_0010217 de Sanctis-Cacchione syndrome null http://purl.obolibrary.org/obo/MONDO_0010217 node EFO_0010116 choline measurement null http://www.ebi.ac.uk/efo/EFO_0010116 node EFO_0003392 obsolete_hypopharynx anlage in statu nascendi null http://www.ebi.ac.uk/efo/EFO_0003392 node EFO_0007295 Hantavirus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007295 node EFO_0002946 obsolete_alpha-1-antitrypsin deficiency null http://www.ebi.ac.uk/efo/EFO_0002946 node CHEBI_85694 diacylglycerol 34:1 null http://purl.obolibrary.org/obo/CHEBI_85694 node EFO_0008342 parental emotion expression measurmement null http://www.ebi.ac.uk/efo/EFO_0008342 node EFO_0008155 histidine-rich glycoprotein measurement null http://www.ebi.ac.uk/efo/EFO_0008155 node MONDO_0014931 Alazami-Yuan syndrome null http://purl.obolibrary.org/obo/MONDO_0014931 node Orphanet_86915 Lymphedema - atrial septal defects - facial changes null http://www.orpha.net/ORDO/Orphanet_86915 node Orphanet_352723 Attenuated Chédiak-Higashi syndrome null http://www.orpha.net/ORDO/Orphanet_352723 node Orphanet_88659 Autosomal dominant progressive nephropathy with hypertension null http://www.orpha.net/ORDO/Orphanet_88659 node EFO_0010690 renal dialysis null http://www.ebi.ac.uk/efo/EFO_0010690 node NCBITaxon_28280 Human adenovirus 4 null http://purl.obolibrary.org/obo/NCBITaxon_28280 node CHEBI_82957 3-hydroxyisovalerate null http://purl.obolibrary.org/obo/CHEBI_82957 node NCBITaxon_393119 Listeria monocytogenes FSL J1-208 null http://purl.obolibrary.org/obo/NCBITaxon_393119 node HP_0001776 Bilateral talipes equinovarus null http://purl.obolibrary.org/obo/HP_0001776 node EFO_0002553 obsolete_tongue mucosa null http://www.ebi.ac.uk/efo/EFO_0002553 node EFO_0008859 PEAT null http://www.ebi.ac.uk/efo/EFO_0008859 node NCBITaxon_565050 Caulobacter crescentus NA1000 null http://purl.obolibrary.org/obo/NCBITaxon_565050 node EFO_0002829 MIN6 null http://www.ebi.ac.uk/efo/EFO_0002829 node CHEBI_4317 dantrolene null http://purl.obolibrary.org/obo/CHEBI_4317 node Orphanet_55654 Hypotrichosis simplex null http://www.orpha.net/ORDO/Orphanet_55654 node NCBITaxon_35525 Daphnia magna null http://purl.obolibrary.org/obo/NCBITaxon_35525 node Orphanet_399998 Male infertility due to obstructive azoospermia of genetic origin null http://www.orpha.net/ORDO/Orphanet_399998 node HP_0000233 Thin vermilion border The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. http://purl.obolibrary.org/obo/HP_0000233 node GO_1901135 carbohydrate derivative metabolic process null http://purl.obolibrary.org/obo/GO_1901135 node EFO_0007196 Cauda equina syndrome null http://www.ebi.ac.uk/efo/EFO_0007196 node UBERON_0016525 frontal lobe null http://purl.obolibrary.org/obo/UBERON_0016525 node EFO_0001980 obsolete_pleura null http://www.ebi.ac.uk/efo/EFO_0001980 node NCBITaxon_273357 Ngari virus null http://purl.obolibrary.org/obo/NCBITaxon_273357 node CHEBI_43415 dexibuprofen null http://purl.obolibrary.org/obo/CHEBI_43415 node Orphanet_306446 Congenital sucrase-isomaltase deficiency with minimal starch tolerance null http://www.orpha.net/ORDO/Orphanet_306446 node Orphanet_79318 PMM2-CDG null http://www.orpha.net/ORDO/Orphanet_79318 node BTO_0000551 lung cancer cell null http://purl.obolibrary.org/obo/BTO_0000551 node MONDO_0002532 squamous cell neoplasm null http://purl.obolibrary.org/obo/MONDO_0002532 node EFO_0002613 iatrogenic Kaposi's sarcoma null http://www.ebi.ac.uk/efo/EFO_0002613 node EFO_0000621 neuroblastoma NB is a disease of the sympaticoadrenal lineage of the neural crest, with tumors forming anywhere in the sympathetic nervous system. The tumors most commonly arise in the abdomen (65%), however, they also occur in the neck, chest, and pelvis. Approximately 50% of patients present with evidence of metastasis. Frequent metastasis sites include cortical bone, bone marrow, liver, and lymph nodes. The most common genetic change is MYCN amplification, which occurs in approximately 20% of patients, and is strongly correlated with advanced stage NB. Additionally, deletions of the short arm of chromosome 1 (1p) are found in 25–35% of patients and can be correlated with MYCN amplification. Outside of MYC linked changes, allelic loss of 11q is present in 35–45% of patients and is also associated with high-risk disease features. http://www.ebi.ac.uk/efo/EFO_0000621 node EFO_1000997 iritis null http://www.ebi.ac.uk/efo/EFO_1000997 node Orphanet_93451 Cleidocranial dysplasia and isolated cranial ossification defect null http://www.orpha.net/ORDO/Orphanet_93451 node EFO_0000468 obsolete_environment Synonym of environmental factor http://www.ebi.ac.uk/efo/EFO_0000468 node Orphanet_90641 Mitochondrial non-syndromic sensorineural deafness null http://www.orpha.net/ORDO/Orphanet_90641 node EFO_0000949 cartilage null http://www.ebi.ac.uk/efo/EFO_0000949 node EFO_1001149 renal aminoaciduria null http://www.ebi.ac.uk/efo/EFO_1001149 node MONDO_0021677 post-infectious neuralgia null http://purl.obolibrary.org/obo/MONDO_0021677 node CLO_0013163 GM17265 null http://purl.obolibrary.org/obo/CLO_0013163 node UBERON_0002190 subcutaneous adipose tissue null http://purl.obolibrary.org/obo/UBERON_0002190 node Orphanet_2310 Absence deformity of leg - cataract null http://www.orpha.net/ORDO/Orphanet_2310 node MONDO_0004497 tertiary syphilis null http://purl.obolibrary.org/obo/MONDO_0004497 node Orphanet_79406 Late-onset junctional epidermolysis bullosa null http://www.orpha.net/ORDO/Orphanet_79406 node Orphanet_422 Idiopathic and/or familial pulmonary arterial hypertension null http://www.orpha.net/ORDO/Orphanet_422 node EFO_0002701 DNA array null http://www.ebi.ac.uk/efo/EFO_0002701 node Orphanet_79219 Metabolic disease involving other neurotransmitter deficiency null http://www.orpha.net/ORDO/Orphanet_79219 node MONDO_0002433 malignant cranial nerve neoplasm null http://purl.obolibrary.org/obo/MONDO_0002433 node EFO_0000556 ischemia null http://www.ebi.ac.uk/efo/EFO_0000556 node EFO_0004390 mouse postnatal null http://www.ebi.ac.uk/efo/EFO_0004390 node CLO_0013941 GM17147 null http://purl.obolibrary.org/obo/CLO_0013941 node EFO_1001237 vitamin A deficiency null http://www.ebi.ac.uk/efo/EFO_1001237 node CL_0000875 non-classical monocyte Markers: CCR2-CX3CCR1+ (human, mouse, rat); human: CD16+, CCR5+, CD32/FcgRII-high, MHCII+, CD86+; mouse: CD62L-Ly6C-. http://purl.obolibrary.org/obo/CL_0000875 node EFO_0005667 urinary albumin excretion rate null http://www.ebi.ac.uk/efo/EFO_0005667 node MONDO_0021765 radiculitis null http://purl.obolibrary.org/obo/MONDO_0021765 node HP_0000204 Cleft upper lip null http://purl.obolibrary.org/obo/HP_0000204 node MONDO_0040566 inherited glutathione metabolism disease null http://purl.obolibrary.org/obo/MONDO_0040566 node EFO_0007972 androstenedione measurement null http://www.ebi.ac.uk/efo/EFO_0007972 node GO_0009314 response to radiation null http://purl.obolibrary.org/obo/GO_0009314 node Orphanet_510 Lesch-Nyhan syndrome null http://www.orpha.net/ORDO/Orphanet_510 node NCBITaxon_82689 Salmonella enterica subsp. enterica serovar Muenster null http://purl.obolibrary.org/obo/NCBITaxon_82689 node EFO_1001939 Barrett adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1001939 node EFO_1000968 hydrophthalmos null http://www.ebi.ac.uk/efo/EFO_1000968 node CLO_0014338 GM17233 null http://purl.obolibrary.org/obo/CLO_0014338 node UBERON_0000004 nose null http://purl.obolibrary.org/obo/UBERON_0000004 node Orphanet_1497 X-linked complicated corpus callosum dysgenesis null http://www.orpha.net/ORDO/Orphanet_1497 node NCBITaxon_104341 Postia placenta null http://purl.obolibrary.org/obo/NCBITaxon_104341 node EFO_1001325 abdominal fibromatosis null http://www.ebi.ac.uk/efo/EFO_1001325 node MONDO_0017769 acquired immunodeficiency null http://purl.obolibrary.org/obo/MONDO_0017769 node CL_0000963 Bm3-delta B cell null http://purl.obolibrary.org/obo/CL_0000963 node CL_0000776 immature neutrophil null http://purl.obolibrary.org/obo/CL_0000776 node Orphanet_276066 Bile acid CoA ligase deficiency and defective amidation null http://www.orpha.net/ORDO/Orphanet_276066 node EFO_0010198 cell barcode null http://www.ebi.ac.uk/efo/EFO_0010198 node EFO_0010217 spike in dilution null http://www.ebi.ac.uk/efo/EFO_0010217 node Orphanet_206647 Myotonic dystrophy Myotonic dystrophy is a long term genetic disorder that affects muscle function. http://www.orpha.net/ORDO/Orphanet_206647 node EFO_0010596 monocyte chemotactic protein 1 measurement null http://www.ebi.ac.uk/efo/EFO_0010596 node GO_0097331 response to cytarabine null http://purl.obolibrary.org/obo/GO_0097331 node EFO_0003009 ILSXISS115/TejJ null http://www.ebi.ac.uk/efo/EFO_0003009 node NCBITaxon_4222 Carthamus tinctorius null http://purl.obolibrary.org/obo/NCBITaxon_4222 node Orphanet_139406 Encephalopathy due to prosaposin deficiency null http://www.orpha.net/ORDO/Orphanet_139406 node NCBITaxon_192222 Campylobacter jejuni subsp. jejuni NCTC 11168 null http://purl.obolibrary.org/obo/NCBITaxon_192222 node EFO_0004334 intuition null http://www.ebi.ac.uk/efo/EFO_0004334 node EFO_0003407 obsolete_embryonic proventriculus outer layer null http://www.ebi.ac.uk/efo/EFO_0003407 node MONDO_0004731 central sleep apnea syndrome null http://purl.obolibrary.org/obo/MONDO_0004731 node EFO_1000208 Cortisol-Producing Adrenal Cortex Adenoma null http://www.ebi.ac.uk/efo/EFO_1000208 node Orphanet_1827 Acromelic frontonasal dysplasia null http://www.orpha.net/ORDO/Orphanet_1827 node Orphanet_166063 Pontocerebellar hypoplasia type 4 null http://www.orpha.net/ORDO/Orphanet_166063 node EFO_0010305 fusiform gyrus volume measurement null http://www.ebi.ac.uk/efo/EFO_0010305 node MONDO_0024879 metastatic carcinoma Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. http://purl.obolibrary.org/obo/MONDO_0024879 node HP_0012704 Widened subarachnoid space null http://purl.obolibrary.org/obo/HP_0012704 node EFO_0005859 Drosophila embryo stage null http://www.ebi.ac.uk/efo/EFO_0005859 node CHEBI_7735 olanzapine null http://purl.obolibrary.org/obo/CHEBI_7735 node CL_0002351 progenitor cell of endocrine pancreas null http://purl.obolibrary.org/obo/CL_0002351 node EFO_0005169 Burren ecotype null http://www.ebi.ac.uk/efo/EFO_0005169 node MONDO_0016436 acquired dermis elastic tissue disorder with increased elastic tissue null http://purl.obolibrary.org/obo/MONDO_0016436 node Orphanet_240085 Progressive supranuclear palsy - parkinsonism null http://www.orpha.net/ORDO/Orphanet_240085 node Orphanet_47 X-linked agammaglobulinemia null http://www.orpha.net/ORDO/Orphanet_47 node EFO_0004422 exome null http://www.ebi.ac.uk/efo/EFO_0004422 node Orphanet_262776 Partial duplication of the short arm of chromosome 10 null http://www.orpha.net/ORDO/Orphanet_262776 node HP_0030369 Induced vaginal delivery null http://purl.obolibrary.org/obo/HP_0030369 node NCBITaxon_670 Vibrio parahaemolyticus null http://purl.obolibrary.org/obo/NCBITaxon_670 node NCBITaxon_34391 Epidermophyton floccosum null http://purl.obolibrary.org/obo/NCBITaxon_34391 node Orphanet_290839 Autoinflammatory syndrome with immune deficiency null http://www.orpha.net/ORDO/Orphanet_290839 node EFO_1000109 Benign Childhood Cerebral Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000109 node Orphanet_262029 Partial deletion of the long arm of chromosome 4 null http://www.orpha.net/ORDO/Orphanet_262029 node NCBITaxon_383407 Xanthomonas oryzae pv. oryzicola BLS256 null http://purl.obolibrary.org/obo/NCBITaxon_383407 node NCBITaxon_155864 Escherichia coli O157:H7 str. EDL933 null http://purl.obolibrary.org/obo/NCBITaxon_155864 node EFO_0006540 BICR 10 null http://www.ebi.ac.uk/efo/EFO_0006540 node CHEBI_7823 oxazepam null http://purl.obolibrary.org/obo/CHEBI_7823 node EFO_0006387 cystadenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0006387 node EFO_0009589 worry measurement null http://www.ebi.ac.uk/efo/EFO_0009589 node EFO_0006868 skin conductance response amplitude null http://www.ebi.ac.uk/efo/EFO_0006868 node EFO_0004510 HPV seropositivity null http://www.ebi.ac.uk/efo/EFO_0004510 node EFO_0004305 erythrocyte count null http://www.ebi.ac.uk/efo/EFO_0004305 node MONDO_0000548 ovarian clear cell cancer null http://purl.obolibrary.org/obo/MONDO_0000548 node PO_0020103 flag leaf null http://purl.obolibrary.org/obo/PO_0020103 node NCBITaxon_34274 Gossypium herbaceum null http://purl.obolibrary.org/obo/NCBITaxon_34274 node MONDO_0007845 Kaposi sarcoma, susceptibility to null http://purl.obolibrary.org/obo/MONDO_0007845 node Orphanet_324525 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation null http://www.orpha.net/ORDO/Orphanet_324525 node Orphanet_31112 Dermatofibrosarcoma protuberans null http://www.orpha.net/ORDO/Orphanet_31112 node EFO_0006475 plasma cell leukemia null http://www.ebi.ac.uk/efo/EFO_0006475 node Orphanet_295203 Congenital vertical talus, bilateral null http://www.orpha.net/ORDO/Orphanet_295203 node NCBITaxon_67367 Streptomyces tanashiensis null http://purl.obolibrary.org/obo/NCBITaxon_67367 node GO_1905747 negative regulation of saliva secretion null http://purl.obolibrary.org/obo/GO_1905747 node EFO_0006312 mitochondrial DNA measurement null http://www.ebi.ac.uk/efo/EFO_0006312 node Orphanet_79493 Brooke-Spiegler syndrome Some consider Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT) as phenotypic variations of a single defect, see PMID:16922728 http://www.orpha.net/ORDO/Orphanet_79493 node Orphanet_915 Aarskog-Scott syndrome null http://www.orpha.net/ORDO/Orphanet_915 node Orphanet_101085 Charcot-Marie-Tooth disease type 1F null http://www.orpha.net/ORDO/Orphanet_101085 node EFO_0009912 distal lower limb amyotrophy null http://www.ebi.ac.uk/efo/EFO_0009912 node EFO_0009278 cranial vault morphology measurement null http://www.ebi.ac.uk/efo/EFO_0009278 node EFO_0008256 peptidyl-prolyl cis-trans isomerase D measurement null http://www.ebi.ac.uk/efo/EFO_0008256 node EFO_0008737 FAST-iCLIP null http://www.ebi.ac.uk/efo/EFO_0008737 node Orphanet_199647 Isolated encephalocele null http://www.orpha.net/ORDO/Orphanet_199647 node MONDO_0000265 aspiration pneumonia (disease) null http://purl.obolibrary.org/obo/MONDO_0000265 node CHEBI_1712 3alpha-hydroxy-5beta-pregnan-20-one null http://purl.obolibrary.org/obo/CHEBI_1712 node EFO_0006400 G122 null http://www.ebi.ac.uk/efo/EFO_0006400 node EFO_0004591 childhood onset asthma null http://www.ebi.ac.uk/efo/EFO_0004591 node BTO_0000377 elementary body null http://purl.obolibrary.org/obo/BTO_0000377 node Orphanet_401825 Autosomal recessive spastic paraplegia type 68 null http://www.orpha.net/ORDO/Orphanet_401825 node EFO_0003489 obsolete_blood island null http://www.ebi.ac.uk/efo/EFO_0003489 node Orphanet_99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L null http://www.orpha.net/ORDO/Orphanet_99945 node EFO_0008521 rhinitis Rhinitis, also known as coryza, is irritation and inflammation of the mucous membrane inside the nose. Common symptoms are a stuffy nose, runny nose, sneezing, and post-nasal drip. http://www.ebi.ac.uk/efo/EFO_0008521 node Orphanet_3239 Deafness - vitiligo - achalasia null http://www.orpha.net/ORDO/Orphanet_3239 node EFO_0008344 response to placebo null http://www.ebi.ac.uk/efo/EFO_0008344 node MONDO_0004657 disseminated chorioretinitis null http://purl.obolibrary.org/obo/MONDO_0004657 node GO_0010468 regulation of gene expression null http://purl.obolibrary.org/obo/GO_0010468 node EFO_0009179 beta-secretase 1 measurement null http://www.ebi.ac.uk/efo/EFO_0009179 node NCBITaxon_64531 Heliconius erato petiverana null http://purl.obolibrary.org/obo/NCBITaxon_64531 node EFO_1000688 dyshidrosis null http://www.ebi.ac.uk/efo/EFO_1000688 node Orphanet_2871 Pfeiffer-Palm-Teller syndrome null http://www.orpha.net/ORDO/Orphanet_2871 node Orphanet_251510 46,XY partial gonadal dysgenesis Editor note: todo - make disjoint with complete form (some classes inherit from both) http://www.orpha.net/ORDO/Orphanet_251510 node EFO_0008157 inorganic pyrophosphatase measurement null http://www.ebi.ac.uk/efo/EFO_0008157 node EFO_0008638 2b-RAD null http://www.ebi.ac.uk/efo/EFO_0008638 node EFO_0010785 fms related receptor tyrosine kinase-3 ligand measurement null http://www.ebi.ac.uk/efo/EFO_0010785 node FBbt_00005618 embryonic maxillary sensory complex null http://purl.obolibrary.org/obo/FBbt_00005618 node UBERON_2005025 dorsal longitudinal anastomotic vessel null http://purl.obolibrary.org/obo/UBERON_2005025 node EFO_1000074 Adrenal Gland Myelolipoma null http://www.ebi.ac.uk/efo/EFO_1000074 node EFO_0003577 obsolete_nucleus of the medial longitudinal fasciculus medulla oblongata null http://www.ebi.ac.uk/efo/EFO_0003577 node HP_0007830 Adult-onset night blindness null http://purl.obolibrary.org/obo/HP_0007830 node Orphanet_3327 Thyrocerebrorenal syndrome null http://www.orpha.net/ORDO/Orphanet_3327 node EFO_1000472 Pharyngeal Adenoid Cystic Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000472 node HP_0001257 Spasticity null http://purl.obolibrary.org/obo/HP_0001257 node EFO_1000295 Hidradenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000295 node HP_0010438 Abnormal ventricular septum morphology null http://purl.obolibrary.org/obo/HP_0010438 node EFO_1000776 viral exanthem null http://www.ebi.ac.uk/efo/EFO_1000776 node EFO_0003798 interleukin-13 (Mus musculus) null http://www.ebi.ac.uk/efo/EFO_0003798 node Orphanet_98612 Conjunctival hemangioma or hemolymphangioma null http://www.orpha.net/ORDO/Orphanet_98612 node EFO_0000247 obsolete_Aicardi syndrome null http://www.ebi.ac.uk/efo/EFO_0000247 node MONDO_0020663 malignant spindle cell neoplasm null http://purl.obolibrary.org/obo/MONDO_0020663 node Orphanet_93356 Spondyloepimetaphyseal dysplasia, Missouri type null http://www.orpha.net/ORDO/Orphanet_93356 node EFO_0010873 HG03175 null http://www.ebi.ac.uk/efo/EFO_0010873 node EFO_0010668 lung capillary endothelial cell Made as a placeholder for AE anatomagrams, term should be requested in CL. http://www.ebi.ac.uk/efo/EFO_0010668 node EFO_1000589 Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000589 node CLO_0031238 GM14432 null http://purl.obolibrary.org/obo/CLO_0031238 node Orphanet_3111 Rotor syndrome null http://www.orpha.net/ORDO/Orphanet_3111 node EFO_0005358 CAL51 null http://www.ebi.ac.uk/efo/EFO_0005358 node EFO_0002156 D283Med null http://www.ebi.ac.uk/efo/EFO_0002156 node EFO_0001229 R46 null http://www.ebi.ac.uk/efo/EFO_0001229 node CLO_0014396 GM17256 null http://purl.obolibrary.org/obo/CLO_0014396 node Orphanet_394532 Multiple acyl-CoA dehydrogenation deficiency, mild type null http://www.orpha.net/ORDO/Orphanet_394532 node Orphanet_201 Cowden syndrome null http://www.orpha.net/ORDO/Orphanet_201 node EFO_0008033 beta-Ala-His dipeptidase measurement null http://www.ebi.ac.uk/efo/EFO_0008033 node Orphanet_1574 Retinal degeneration - nanophthalmos - glaucoma null http://www.orpha.net/ORDO/Orphanet_1574 node EFO_1000560 T-Cell Prolymphocytic Leukemia null http://www.ebi.ac.uk/efo/EFO_1000560 node EFO_1000383 Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma null http://www.ebi.ac.uk/efo/EFO_1000383 node EFO_1000178 Chronic Eosinophilic Leukemia, Not Otherwise Specified null http://www.ebi.ac.uk/efo/EFO_1000178 node EFO_0010452 adenosine diphosphate measurement null http://www.ebi.ac.uk/efo/EFO_0010452 node EFO_0009735 co-investigator null http://www.ebi.ac.uk/efo/EFO_0009735 node EFO_0008808 Micro-C XL null http://www.ebi.ac.uk/efo/EFO_0008808 node EFO_0005832 ML-DmD8 null http://www.ebi.ac.uk/efo/EFO_0005832 node EFO_0004990 J1 null http://www.ebi.ac.uk/efo/EFO_0004990 node HP_0031047 Paraproteinemia A paraprotein is a monoclonal immunoglobulin or light chain present in the blood or urine; it is produced by a clonal population of mature B cells, most commonly plasma cells. Plasma cell disorders can be considered as a spectrum of conditions ranging from monoclonal gammopathy of undetermined significance (MGUS), through asymptomatic, to symptomatic myeloma. The frequency of paraprotein-associated heavy chains is IgG, IgA, IgM, IgD (in that order). Light chains may be kappa or lambda. Paraproteins are associated with both malignant and nonmalignant conditions and may lead to complications including neuropathy and nephropathy. http://purl.obolibrary.org/obo/HP_0031047 node EFO_0004785 South Texas Assessment of Neurocognition null http://www.ebi.ac.uk/efo/EFO_0004785 node CHEBI_2825 aristolochic acid null http://purl.obolibrary.org/obo/CHEBI_2825 node MONDO_0021679 gram-positive bacterial infections Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now http://purl.obolibrary.org/obo/MONDO_0021679 node UBERON_0001287 proximal convoluted tubule null http://purl.obolibrary.org/obo/UBERON_0001287 node Orphanet_183669 Agammaglobulinemia null http://www.orpha.net/ORDO/Orphanet_183669 node Orphanet_157215 Hereditary hypophosphatemic rickets with hypercalciuria null http://www.orpha.net/ORDO/Orphanet_157215 node NCBITaxon_1085 Rhodospirillum rubrum null http://purl.obolibrary.org/obo/NCBITaxon_1085 node EFO_0010756 HL-60/S4 null http://www.ebi.ac.uk/efo/EFO_0010756 node CL_0000173 pancreatic D cell null http://purl.obolibrary.org/obo/CL_0000173 node EFO_0005446 PEO14 null http://www.ebi.ac.uk/efo/EFO_0005446 node EFO_0002244 NALM1 null http://www.ebi.ac.uk/efo/EFO_0002244 node EFO_0001317 segmentation 5-9 somites null http://www.ebi.ac.uk/efo/EFO_0001317 node EFO_0000148 CS57859 null http://www.ebi.ac.uk/efo/EFO_0000148 node Orphanet_98700 Pigmentation disorder with eye involvement null http://www.orpha.net/ORDO/Orphanet_98700 node Orphanet_1662 Lethal restrictive dermopathy null http://www.orpha.net/ORDO/Orphanet_1662 node NCBITaxon_286 Pseudomonas null http://purl.obolibrary.org/obo/NCBITaxon_286 node EFO_1001370 Metatarsalgia null http://www.ebi.ac.uk/efo/EFO_1001370 node EFO_1000443 Pancreatic Precancerous Condition null http://www.ebi.ac.uk/efo/EFO_1000443 node CLO_0016676 GM17794 null http://purl.obolibrary.org/obo/CLO_0016676 node EFO_0010081 Afp-GFP null http://www.ebi.ac.uk/efo/EFO_0010081 node EFO_0004873 cytokine measurement null http://www.ebi.ac.uk/efo/EFO_0004873 node EFO_0010540 thiamine measurement null http://www.ebi.ac.uk/efo/EFO_0010540 node EFO_0009823 achievement of target heart rate, self-reported null http://www.ebi.ac.uk/efo/EFO_0009823 node MONDO_0018171 malignant germ cell tumor of ovary null http://purl.obolibrary.org/obo/MONDO_0018171 node MONDO_0010967 autosomal recessive nonsyndromic deafness 7 null http://purl.obolibrary.org/obo/MONDO_0010967 node EFO_0003769 endocrine neoplasm null http://www.ebi.ac.uk/efo/EFO_0003769 node EFO_0010363 lysophosphatidylcholine 20:4 measurement null http://www.ebi.ac.uk/efo/EFO_0010363 node Orphanet_183757 Rare genetic intellectual disability null http://www.orpha.net/ORDO/Orphanet_183757 node NCBITaxon_29385 Staphylococcus saprophyticus null http://purl.obolibrary.org/obo/NCBITaxon_29385 node MONDO_0017652 rare disease with myoclonus as a major feature null http://purl.obolibrary.org/obo/MONDO_0017652 node EFO_0002332 SKMEL1 null http://www.ebi.ac.uk/efo/EFO_0002332 node EFO_0002127 CCFSTTG1 null http://www.ebi.ac.uk/efo/EFO_0002127 node EFO_0003094 ganglioglioma null http://www.ebi.ac.uk/efo/EFO_0003094 node MONDO_0001764 ethmoidal sinus neoplasm null http://purl.obolibrary.org/obo/MONDO_0001764 node MONDO_0021368 neoplasm of major salivary gland null http://purl.obolibrary.org/obo/MONDO_0021368 node Orphanet_97593 Pseudohypoparathyroidism null http://www.orpha.net/ORDO/Orphanet_97593 node Orphanet_363700 Neurofibromatosis type 1 due to NF1mutation or intragenic deletion null http://www.orpha.net/ORDO/Orphanet_363700 node Orphanet_95714 Primary congenital hypothyroidism without thyroid developmental anomaly null http://www.orpha.net/ORDO/Orphanet_95714 node EFO_0004113 obsolete_seq library source flag null http://www.ebi.ac.uk/efo/EFO_0004113 node UBERON_0000955 brain null http://purl.obolibrary.org/obo/UBERON_0000955 node Orphanet_168454 Spondyloepimetaphyseal dysplasia, Geneviève type null http://www.orpha.net/ORDO/Orphanet_168454 node CHEBI_64022 nebivolol null http://purl.obolibrary.org/obo/CHEBI_64022 node Orphanet_2052 Fraser syndrome null http://www.orpha.net/ORDO/Orphanet_2052 node Orphanet_75233 Wolman disease null http://www.orpha.net/ORDO/Orphanet_75233 node MONDO_0001852 small intestine lymphoma null http://purl.obolibrary.org/obo/MONDO_0001852 node EFO_0006945 diastolic blood pressure change measurement null http://www.ebi.ac.uk/efo/EFO_0006945 node NCBITaxon_7070 Tribolium castaneum null http://purl.obolibrary.org/obo/NCBITaxon_7070 node Orphanet_96172 Ring chromosome 3 null http://www.orpha.net/ORDO/Orphanet_96172 node MONDO_0021279 mucoepidermoid carcinoma of submandibular gland null http://purl.obolibrary.org/obo/MONDO_0021279 node Orphanet_352479 Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency null http://www.orpha.net/ORDO/Orphanet_352479 node EFO_0006559 CPC-N null http://www.ebi.ac.uk/efo/EFO_0006559 node NCBITaxon_27606 Eubalaena glacialis null http://purl.obolibrary.org/obo/NCBITaxon_27606 node Orphanet_262074 Partial monosomy of the long arm of chromosome 9 null http://www.orpha.net/ORDO/Orphanet_262074 node EFO_1002014 melancholia null http://www.ebi.ac.uk/efo/EFO_1002014 node EFO_0005140 autoimmune disease null http://www.ebi.ac.uk/efo/EFO_0005140 node Orphanet_2235 Hypogonadotropic hypogonadism - retinitis pigmentosa null http://www.orpha.net/ORDO/Orphanet_2235 node HP_0030148 Heart murmur Heart murmurs can be appreciated by auscultation of the heart by stethoscope. Murmurs can be further categorized by intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc). http://purl.obolibrary.org/obo/HP_0030148 node MONDO_0056803 sulfur metabolism disease null http://purl.obolibrary.org/obo/MONDO_0056803 node EFO_0004014 deletion null http://www.ebi.ac.uk/efo/EFO_0004014 node Orphanet_77240 Primary lymphedema null http://www.orpha.net/ORDO/Orphanet_77240 node Orphanet_98694 Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly null http://www.orpha.net/ORDO/Orphanet_98694 node MONDO_0019404 perineurioma null http://purl.obolibrary.org/obo/MONDO_0019404 node Orphanet_228410 Polyvalvular heart disease syndrome null http://www.orpha.net/ORDO/Orphanet_228410 node Orphanet_254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency null http://www.orpha.net/ORDO/Orphanet_254864 node MONDO_0014790 TMEM199-CDG null http://purl.obolibrary.org/obo/MONDO_0014790 node Orphanet_52054 Craniosynostosis - intracranial calcifications null http://www.orpha.net/ORDO/Orphanet_52054 node Orphanet_254793 Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA null http://www.orpha.net/ORDO/Orphanet_254793 node CHEBI_44526 10-trans,12-cis-octadecadienoic acid null http://purl.obolibrary.org/obo/CHEBI_44526 node Orphanet_3258 Cenani-Lenz syndrome null http://www.orpha.net/ORDO/Orphanet_3258 node EFO_0005051 454 GS 20 standard manufacturer's protocol null http://www.ebi.ac.uk/efo/EFO_0005051 node HP_0004755 Supraventricular tachycardia A narrow complex (QRS width less than 120 milliseconds) reflects rapid activation of the ventricles via the normal conduction pathway, i.e. His-Purkinje system, which in turn suggests that the tachycardia originated above the AV node and is thus supraventricular. http://purl.obolibrary.org/obo/HP_0004755 node EFO_0009842 respiratory depression null http://www.ebi.ac.uk/efo/EFO_0009842 node EFO_0001399 obsolete_pulmonary artery null http://www.ebi.ac.uk/efo/EFO_0001399 node EFO_0008672 Capp-Seq null http://www.ebi.ac.uk/efo/EFO_0008672 node MONDO_0030054 developmental and epileptic encephalopathy, 86 null http://purl.obolibrary.org/obo/MONDO_0030054 node MONDO_0002376 spleen angiosarcoma null http://purl.obolibrary.org/obo/MONDO_0002376 node EFO_0009443 BRCAX breast cancer PMID:30323354 http://www.ebi.ac.uk/efo/EFO_0009443 node EFO_0007030 SCIM null http://www.ebi.ac.uk/efo/EFO_0007030 node MONDO_0002281 macrocytic anemia (disease) null http://purl.obolibrary.org/obo/MONDO_0002281 node EFO_0008902 SAPAS null http://www.ebi.ac.uk/efo/EFO_0008902 node EFO_1001793 fetal hypoxia null http://www.ebi.ac.uk/efo/EFO_1001793 node Orphanet_98813 Hypohidrotic ectodermal dysplasia with immunodeficiency null http://www.orpha.net/ORDO/Orphanet_98813 node EFO_0003841 thyroid neoplasm Editor note: TODO http://www.ebi.ac.uk/efo/EFO_0003841 node MONDO_0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 null http://purl.obolibrary.org/obo/MONDO_0011428 node EFO_1000151 Cavernous Hemangioma null http://www.ebi.ac.uk/efo/EFO_1000151 node EFO_1000632 cerebral palsy null http://www.ebi.ac.uk/efo/EFO_1000632 node EFO_0003654 obsolete_ovarian follicle stage II null http://www.ebi.ac.uk/efo/EFO_0003654 node EFO_0007557 secondary high content screen null http://www.ebi.ac.uk/efo/EFO_0007557 node Orphanet_266 Autosomal dominant limb-girdle muscular dystrophy type 1A null http://www.orpha.net/ORDO/Orphanet_266 node CHEBI_26863 teasterone null http://purl.obolibrary.org/obo/CHEBI_26863 node HP_0000407 Sensorineural hearing impairment Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). http://purl.obolibrary.org/obo/HP_0000407 node Orphanet_674 Accessory pancreas null http://www.orpha.net/ORDO/Orphanet_674 node NCBITaxon_520 Bordetella pertussis null http://purl.obolibrary.org/obo/NCBITaxon_520 node EFO_1000853 carotid artery thrombosis null http://www.ebi.ac.uk/efo/EFO_1000853 node MONDO_0017841 autoimmune disease with skin involvement null http://purl.obolibrary.org/obo/MONDO_0017841 node Orphanet_3191 Subaortic stenosis - short stature null http://www.orpha.net/ORDO/Orphanet_3191 node EFO_0004593 gestational diabetes null http://www.ebi.ac.uk/efo/EFO_0004593 node MONDO_0004917 internal hordeolum null http://purl.obolibrary.org/obo/MONDO_0004917 node EFO_0002695 obsolete_RNA-seq null http://www.ebi.ac.uk/efo/EFO_0002695 node Orphanet_354 GM1 gangliosidosis null http://www.orpha.net/ORDO/Orphanet_354 node EFO_0003742 clone by clone sequencing null http://www.ebi.ac.uk/efo/EFO_0003742 node EFO_0007645 longitudinal alcohol consumption measurement null http://www.ebi.ac.uk/efo/EFO_0007645 node Orphanet_2650 Dwarfism - intellectual disability - eye abnormality null http://www.orpha.net/ORDO/Orphanet_2650 node CHEBI_85837 triacylglycerol 54:8 null http://purl.obolibrary.org/obo/CHEBI_85837 node Orphanet_93448 Lysosomal storage disease with skeletal involvement null http://www.orpha.net/ORDO/Orphanet_93448 node HP_0100832 Vitreous floaters Vitreous floaters are described as vitreous condensations (or vitreous debris or vitreous opacities) as a finding upon ophthalmological examination. Floaters can take many forms from little dots, circles, lines, to clouds or cobwebs. The floaters are created by a shadow of the floating vitreal debris that is projected onto the retina, which is described as a veil. http://purl.obolibrary.org/obo/HP_0100832 node EFO_0001152 GM12761 null http://www.ebi.ac.uk/efo/EFO_0001152 node Orphanet_2463 Marfanoid habitus - intellectual disability, autosomal recessive null http://www.orpha.net/ORDO/Orphanet_2463 node MONDO_0015474 cryptosporidiosis null http://purl.obolibrary.org/obo/MONDO_0015474 node CHEBI_26764 steroid hormone null http://purl.obolibrary.org/obo/CHEBI_26764 node CL_0002031 hematopoietic lineage restricted progenitor cell null http://purl.obolibrary.org/obo/CL_0002031 node EFO_1000941 frozen shoulder null http://www.ebi.ac.uk/efo/EFO_1000941 node NCBITaxon_481606 Xenopus laevis x Xenopus muelleri null http://purl.obolibrary.org/obo/NCBITaxon_481606 node CL_0000894 DN1 thymic pro-T cell null http://purl.obolibrary.org/obo/CL_0000894 node EFO_0000412 distant metastasis free survival null http://www.ebi.ac.uk/efo/EFO_0000412 node EFO_0004681 obsolete_response to lithium null http://www.ebi.ac.uk/efo/EFO_0004681 node MONDO_0003544 spinal cord cancer null http://purl.obolibrary.org/obo/MONDO_0003544 node EFO_0005523 surface type null http://www.ebi.ac.uk/efo/EFO_0005523 node UBERON_2001143 tooth 4V null http://purl.obolibrary.org/obo/UBERON_2001143 node EFO_0002802 SK-N-SH_RA null http://www.ebi.ac.uk/efo/EFO_0002802 node NCBITaxon_12721 Human immunodeficiency virus null http://purl.obolibrary.org/obo/NCBITaxon_12721 node HP_0012389 Appendicular hypotonia null http://purl.obolibrary.org/obo/HP_0012389 node Orphanet_163746 Neurologic Waardenburg-Shah syndrome null http://www.orpha.net/ORDO/Orphanet_163746 node EFO_0008106 cystatin-SN measurement null http://www.ebi.ac.uk/efo/EFO_0008106 node EFO_0007969 cognitive inhibition measurement null http://www.ebi.ac.uk/efo/EFO_0007969 node EFO_0005611 opioid dependence null http://www.ebi.ac.uk/efo/EFO_0005611 node Orphanet_140908 Brachydactyly type B2 null http://www.orpha.net/ORDO/Orphanet_140908 node Orphanet_141145 Hemifacial hypertrophy null http://www.orpha.net/ORDO/Orphanet_141145 node Orphanet_261120 14q11.2 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261120 node Orphanet_295107 Apodia, bilateral null http://www.orpha.net/ORDO/Orphanet_295107 node Orphanet_169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation null http://www.orpha.net/ORDO/Orphanet_169085 node Orphanet_295018 Congenital pseudoarthrosis of the tibia null http://www.orpha.net/ORDO/Orphanet_295018 node EFO_0004266 primary ovarian insufficiency null http://www.ebi.ac.uk/efo/EFO_0004266 node UBERON_0001540 peroneal artery null http://purl.obolibrary.org/obo/UBERON_0001540 node EFO_0000961 obsolete_adult segment null http://www.ebi.ac.uk/efo/EFO_0000961 node EFO_0007576 blood cadmium measurement null http://www.ebi.ac.uk/efo/EFO_0007576 node Orphanet_308573 Glycogen storage disease due to acid maltase deficiency, juvenile onset null http://www.orpha.net/ORDO/Orphanet_308573 node CHEBI_71464 palmitoyl ethanolamide null http://purl.obolibrary.org/obo/CHEBI_71464 node EFO_1000538 Small Intestinal Tubular Adenoma null http://www.ebi.ac.uk/efo/EFO_1000538 node GO_0006776 vitamin A metabolic process null http://purl.obolibrary.org/obo/GO_0006776 node CL_0002465 CD11b-positive dendritic cell null http://purl.obolibrary.org/obo/CL_0002465 node EFO_0000009 CS57543 null http://www.ebi.ac.uk/efo/EFO_0000009 node EFO_0010083 dentate gyrus volume measurement null http://www.ebi.ac.uk/efo/EFO_0010083 node NCBITaxon_6526 Biomphalaria glabrata null http://purl.obolibrary.org/obo/NCBITaxon_6526 node CHEBI_15738 staurosporine null http://purl.obolibrary.org/obo/CHEBI_15738 node EFO_0007664 outer ear morphology trait null http://www.ebi.ac.uk/efo/EFO_0007664 node CHEBI_88005 3-phosphoglycerate(2-) null http://purl.obolibrary.org/obo/CHEBI_88005 node HP_0008935 Generalized neonatal hypotonia null http://purl.obolibrary.org/obo/HP_0008935 node CL_0002348 CD27-low, CD11b-high natural killer cell, mouse null http://purl.obolibrary.org/obo/CL_0002348 node PR_000003918 serum albumin null http://purl.obolibrary.org/obo/PR_000003918 node EFO_0004419 milligram per day null http://www.ebi.ac.uk/efo/EFO_0004419 node EFO_0005208 glomerular filtration rate null http://www.ebi.ac.uk/efo/EFO_0005208 node CHEBI_5692 hexachlorobenzene null http://purl.obolibrary.org/obo/CHEBI_5692 node MONDO_0037003 malignant phyllodes tumor null http://purl.obolibrary.org/obo/MONDO_0037003 node MONDO_0005053 ischemic disease Editor note: represented as a finding in other ontologies http://purl.obolibrary.org/obo/MONDO_0005053 node MONDO_0060510 Cohen-Gibson syndrome null http://purl.obolibrary.org/obo/MONDO_0060510 node NCBITaxon_34388 Trichophyton violaceum null http://purl.obolibrary.org/obo/NCBITaxon_34388 node EFO_0006724 OVISE null http://www.ebi.ac.uk/efo/EFO_0006724 node Orphanet_331190 Immunodeficiency due to ficolin3 deficiency null http://www.orpha.net/ORDO/Orphanet_331190 node CHEBI_28534 1,2-dibromoethane null http://purl.obolibrary.org/obo/CHEBI_28534 node NCBITaxon_520522 Saccharomyces pastorianus Weihenstephan 34/70 null http://purl.obolibrary.org/obo/NCBITaxon_520522 node EFO_0001663 prostate carcinoma DOID:10286 http://www.ebi.ac.uk/efo/EFO_0001663 node CL_0002436 mature CD4 single-positive thymocyte null http://purl.obolibrary.org/obo/CL_0002436 node CHEBI_82927 1-palmitoyl-2-linoleoyl-sn-glycerol null http://purl.obolibrary.org/obo/CHEBI_82927 node EFO_0004507 D dimer measurement null http://www.ebi.ac.uk/efo/EFO_0004507 node EFO_0003021 interferon alpha null http://www.ebi.ac.uk/efo/EFO_0003021 node MONDO_0001713 inherited aplastic anemia In DO this is classified as idiopathic; however, ORDO classifies idiopathic as acquired which leads to an inconsistency http://purl.obolibrary.org/obo/MONDO_0001713 node MONDO_0045058 ACTH-producing pituitary gland neoplasm null http://purl.obolibrary.org/obo/MONDO_0045058 node GO_0044428 nuclear part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0044428 node EFO_0006331 selenium measurement null http://www.ebi.ac.uk/efo/EFO_0006331 node NCBITaxon_376619 Francisella tularensis subsp. holarctica LVS null http://purl.obolibrary.org/obo/NCBITaxon_376619 node Orphanet_320380 Autosomal recessive spastic paraplegia type 54 null http://www.orpha.net/ORDO/Orphanet_320380 node Orphanet_268758 Lumbosacral spina bifida cystica null http://www.orpha.net/ORDO/Orphanet_268758 node EFO_0000980 obsolete_endometrium null http://www.ebi.ac.uk/efo/EFO_0000980 node EFO_0006309 plasma plasminogen measurement null http://www.ebi.ac.uk/efo/EFO_0006309 node EFO_0001972 obsolete_olfactory epithelium null http://www.ebi.ac.uk/efo/EFO_0001972 node Orphanet_309130 Disorder of carnitine cycle and carnitine transport null http://www.orpha.net/ORDO/Orphanet_309130 node EFO_0009909 stage 5 chronic kidney disease null http://www.ebi.ac.uk/efo/EFO_0009909 node Orphanet_171881 Cap myopathy null http://www.orpha.net/ORDO/Orphanet_171881 node MONDO_0001437 pulmonary alveolar proteinosis null http://purl.obolibrary.org/obo/MONDO_0001437 node MONDO_0015564 Castleman disease null http://purl.obolibrary.org/obo/MONDO_0015564 node Orphanet_2967 Protein R deficiency null http://www.orpha.net/ORDO/Orphanet_2967 node EFO_0003345 obsolete_foregut anlage null http://www.ebi.ac.uk/efo/EFO_0003345 node MONDO_0004693 squamous carcinoma in situ null http://purl.obolibrary.org/obo/MONDO_0004693 node EFO_0008674 Capture-HiC null http://www.ebi.ac.uk/efo/EFO_0008674 node Orphanet_139589 Distal hereditary motor neuropathy type 7 null http://www.orpha.net/ORDO/Orphanet_139589 node UBERON_0007122 pharyngeal pouch 1 null http://purl.obolibrary.org/obo/UBERON_0007122 node EFO_0007722 carotid artery wall cross sectional area measurement null http://www.ebi.ac.uk/efo/EFO_0007722 node Orphanet_357329 Cryptosporidiosis - chronic cholangitis - liver disease null http://www.orpha.net/ORDO/Orphanet_357329 node EFO_0009445 anoxya null http://www.ebi.ac.uk/efo/EFO_0009445 node Orphanet_64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 null http://www.orpha.net/ORDO/Orphanet_64746 node Orphanet_63260 Craniorachischisis null http://www.orpha.net/ORDO/Orphanet_63260 node EFO_0004382 nanogram per liter null http://www.ebi.ac.uk/efo/EFO_0004382 node EFO_0003433 obsolete_trigeminal placode null http://www.ebi.ac.uk/efo/EFO_0003433 node Orphanet_99179 Kandori fleck retina null http://www.orpha.net/ORDO/Orphanet_99179 node Orphanet_356961 SLC35A2-CDG null http://www.orpha.net/ORDO/Orphanet_356961 node Orphanet_2868 Short stature - valvular heart disease - characteristic facies null http://www.orpha.net/ORDO/Orphanet_2868 node EFO_0004195 LDL cholesterol null http://www.ebi.ac.uk/efo/EFO_0004195 node EFO_0008098 complement factor H-related protein 5 measurement null http://www.ebi.ac.uk/efo/EFO_0008098 node Orphanet_276223 Mucopolysaccharidosis type 6, slowly progressing null http://www.orpha.net/ORDO/Orphanet_276223 node EFO_0007810 Plasmodium falciparum antigen IgG1 measurement null http://www.ebi.ac.uk/efo/EFO_0007810 node CHEBI_63060 phase-transfer catalyst role null http://purl.obolibrary.org/obo/CHEBI_63060 node Orphanet_85317 X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration null http://www.orpha.net/ORDO/Orphanet_85317 node HP_0004925 Chronic lactic acidosis null http://purl.obolibrary.org/obo/HP_0004925 node Orphanet_319678 Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease null http://www.orpha.net/ORDO/Orphanet_319678 node EFO_1001396 Pinta null http://www.ebi.ac.uk/efo/EFO_1001396 node NCBITaxon_3332 Picea sitchensis null http://purl.obolibrary.org/obo/NCBITaxon_3332 node EFO_1001877 anxiety-like behavior null http://www.ebi.ac.uk/efo/EFO_1001877 node Orphanet_280133 Complement component 3 deficiency null http://www.orpha.net/ORDO/Orphanet_280133 node Orphanet_1935 Early myoclonic encephalopathy null http://www.orpha.net/ORDO/Orphanet_1935 node NCBITaxon_11623 Lymphocytic choriomeningitis virus null http://purl.obolibrary.org/obo/NCBITaxon_11623 node EFO_0003819 dental caries null http://www.ebi.ac.uk/efo/EFO_0003819 node EFO_0009290 left ventricular mass index null http://www.ebi.ac.uk/efo/EFO_0009290 node EFO_0009410 uterine fibroid measurement null http://www.ebi.ac.uk/efo/EFO_0009410 node EFO_0010389 phosphatidylcholine 40:6 measurement null http://www.ebi.ac.uk/efo/EFO_0010389 node EFO_1000129 Bladder Small Cell Neuroendocrine Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000129 node EFO_0004283 goiter null http://www.ebi.ac.uk/efo/EFO_0004283 node EFO_0008186 interleukin 5 receptor subunit alpha measurement null http://www.ebi.ac.uk/efo/EFO_0008186 node Orphanet_3193 Supravalvular aortic stenosis null http://www.orpha.net/ORDO/Orphanet_3193 node CL_0000768 immature basophil null http://purl.obolibrary.org/obo/CL_0000768 node HP_0004605 Absent vertebral body mineralization null http://purl.obolibrary.org/obo/HP_0004605 node UBERON_0001143 hepatic vein null http://purl.obolibrary.org/obo/UBERON_0001143 node Orphanet_1068 Aniridia-intellectual disability syndrome null http://www.orpha.net/ORDO/Orphanet_1068 node Orphanet_137634 Overgrowth - macrocephaly - facial dysmorphism null http://www.orpha.net/ORDO/Orphanet_137634 node EFO_1001484 pain agnosia null http://www.ebi.ac.uk/efo/EFO_1001484 node EFO_0003603 obsolete_mesenchyme derived from head mesoderm null http://www.ebi.ac.uk/efo/EFO_0003603 node Orphanet_394529 Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type null http://www.orpha.net/ORDO/Orphanet_394529 node Orphanet_295165 Postaxial polydactyly type A, bilateral null http://www.orpha.net/ORDO/Orphanet_295165 node EFO_0004987 embryonal carcinoma cell null http://www.ebi.ac.uk/efo/EFO_0004987 node EO_0001038 osmotic stress treatment null http://purl.obolibrary.org/obo/EO_0001038 node MONDO_0017368 systemic disease with skin involvement null http://purl.obolibrary.org/obo/MONDO_0017368 node EFO_0003907 deep vein thrombosis null http://www.ebi.ac.uk/efo/EFO_0003907 node EFO_1000217 Digestive System Adenoma null http://www.ebi.ac.uk/efo/EFO_1000217 node FBbt_00005431 foregut anlage null http://purl.obolibrary.org/obo/FBbt_00005431 node Orphanet_17 Fatal infantile lactic acidosis with methylmalonic aciduria null http://www.orpha.net/ORDO/Orphanet_17 node MONDO_0021718 polyneuritis null http://purl.obolibrary.org/obo/MONDO_0021718 node EFO_1000802 alcoholic liver cirrhosis null http://www.ebi.ac.uk/efo/EFO_1000802 node EFO_0009191 Toxic Nodular Goiter null http://www.ebi.ac.uk/efo/EFO_0009191 node CHEBI_86468 dimethylarginine null http://purl.obolibrary.org/obo/CHEBI_86468 node CHEBI_11009 (R)-3-phenyllactate null http://purl.obolibrary.org/obo/CHEBI_11009 node FBbt_00005067 fat body primordium null http://purl.obolibrary.org/obo/FBbt_00005067 node EFO_0006976 No-0 null http://www.ebi.ac.uk/efo/EFO_0006976 node MONDO_0003218 adenocarcinoma in situ null http://purl.obolibrary.org/obo/MONDO_0003218 node UBERON_0014903 primordial vasculature null http://purl.obolibrary.org/obo/UBERON_0014903 node MONDO_0018373 avascular necrosis null http://purl.obolibrary.org/obo/MONDO_0018373 node MONDO_0016428 multiple sclerosis variant null http://purl.obolibrary.org/obo/MONDO_0016428 node EFO_0004431 454 GS sequencer null http://www.ebi.ac.uk/efo/EFO_0004431 node EFO_0003504 obsolete_branchial muscle null http://www.ebi.ac.uk/efo/EFO_0003504 node CHEBI_16247 phospholipid null http://purl.obolibrary.org/obo/CHEBI_16247 node EFO_1000305 Intimal Sarcoma null http://www.ebi.ac.uk/efo/EFO_1000305 node Orphanet_308487 Generalized galactose epimerase deficiency null http://www.orpha.net/ORDO/Orphanet_308487 node Orphanet_228215 Genetic dermis elastic tissue disorder null http://www.orpha.net/ORDO/Orphanet_228215 node EFO_0002329 SJRH30 null http://www.ebi.ac.uk/efo/EFO_0002329 node Orphanet_83454 Glomuvenous malformation null http://www.orpha.net/ORDO/Orphanet_83454 node EFO_1000703 fox fordyce disease null http://www.ebi.ac.uk/efo/EFO_1000703 node Orphanet_85170 Mesomelic dysplasia, Savarirayan type null http://www.orpha.net/ORDO/Orphanet_85170 node Orphanet_137605 Legius syndrome null http://www.orpha.net/ORDO/Orphanet_137605 node CHEBI_29678 sodium metaarsenite null http://purl.obolibrary.org/obo/CHEBI_29678 node Orphanet_2003 Cleft lip/palate - deafness - sacral lipoma null http://www.orpha.net/ORDO/Orphanet_2003 node MONDO_0020206 rare refraction anomaly null http://purl.obolibrary.org/obo/MONDO_0020206 node UBERON_0004122 genitourinary system null http://purl.obolibrary.org/obo/UBERON_0004122 node CHEBI_64206 bromochloroacetic acid null http://purl.obolibrary.org/obo/CHEBI_64206 node UBERON_0001401 longissimus thoracis muscle null http://purl.obolibrary.org/obo/UBERON_0001401 node EFO_0007918 response to anti-tuberculosis drug null http://www.ebi.ac.uk/efo/EFO_0007918 node MONDO_0021201 skin infection null http://purl.obolibrary.org/obo/MONDO_0021201 node HP_0001780 Abnormality of toe null http://purl.obolibrary.org/obo/HP_0001780 node CHEBI_27436 methyltestosterone null http://purl.obolibrary.org/obo/CHEBI_27436 node EFO_0008863 PLATE-Seq null http://www.ebi.ac.uk/efo/EFO_0008863 node EFO_0000160 CS57896 null http://www.ebi.ac.uk/efo/EFO_0000160 node Orphanet_96169 Koolen-De Vries syndrome Editor note: DOID classifies as non-syndromic but we classify as syndromic http://www.orpha.net/ORDO/Orphanet_96169 node HP_0025425 Laryngospasm null http://purl.obolibrary.org/obo/HP_0025425 node MONDO_0000771 allergic respiratory disease null http://purl.obolibrary.org/obo/MONDO_0000771 node HP_0008527 Congenital sensorineural hearing impairment null http://purl.obolibrary.org/obo/HP_0008527 node UBERON_0004639 renal afferent arteriole null http://purl.obolibrary.org/obo/UBERON_0004639 node MONDO_0002494 substance-related disorder null http://purl.obolibrary.org/obo/MONDO_0002494 node MONDO_0019744 rare renal tubular disease null http://purl.obolibrary.org/obo/MONDO_0019744 node CLO_0013202 GM17275 null http://purl.obolibrary.org/obo/CLO_0013202 node Orphanet_99849 Glycogen storage disease due to muscle beta-enolase deficiency null http://www.orpha.net/ORDO/Orphanet_99849 node Orphanet_97361 Unilateral renal hypoplasia null http://www.orpha.net/ORDO/Orphanet_97361 node CHEBI_17561 L-cysteine null http://purl.obolibrary.org/obo/CHEBI_17561 node NCBITaxon_8082 Xiphophorus null http://purl.obolibrary.org/obo/NCBITaxon_8082 node EFO_0009695 household income null http://www.ebi.ac.uk/efo/EFO_0009695 node EFO_0008746 FREQ-Seq null http://www.ebi.ac.uk/efo/EFO_0008746 node Orphanet_169802 Severe hemophilia A null http://www.orpha.net/ORDO/Orphanet_169802 node FBbt_00005744 embryonic dorsal epidermis null http://purl.obolibrary.org/obo/FBbt_00005744 node Orphanet_254351 Distal 7q11.23 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_254351 node EFO_0001255 U373 null http://www.ebi.ac.uk/efo/EFO_0001255 node Orphanet_85319 X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism null http://www.orpha.net/ORDO/Orphanet_85319 node MONDO_0002395 renal adenoma null http://purl.obolibrary.org/obo/MONDO_0002395 node EFO_0009960 atypical femoral fracture null http://www.ebi.ac.uk/efo/EFO_0009960 node EFO_1000884 cranial nerve malignant neoplasm null http://www.ebi.ac.uk/efo/EFO_1000884 node MONDO_0002232 nasal cavity disease null http://purl.obolibrary.org/obo/MONDO_0002232 node Orphanet_34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia null http://www.orpha.net/ORDO/Orphanet_34527 node EFO_0009783 carotid atherosclerosis null http://www.ebi.ac.uk/efo/EFO_0009783 node NCBITaxon_414717 Pachycladon enysii null http://purl.obolibrary.org/obo/NCBITaxon_414717 node EFO_0008834 nucleosome sequencing null http://www.ebi.ac.uk/efo/EFO_0008834 node Orphanet_567 22q11.2 deletion syndrome null http://www.orpha.net/ORDO/Orphanet_567 node Orphanet_140465 Autosomal dominant distal hereditary motor neuropathy null http://www.orpha.net/ORDO/Orphanet_140465 node EFO_0009596 feeling tense measurement null http://www.ebi.ac.uk/efo/EFO_0009596 node Orphanet_2676 Neuroectodermal-endocrine syndrome null http://www.orpha.net/ORDO/Orphanet_2676 node Orphanet_91088 Other metabolic disease null http://www.orpha.net/ORDO/Orphanet_91088 node EFO_0007232 cystoisosporiasis null http://www.ebi.ac.uk/efo/EFO_0007232 node Orphanet_331217 Other immunodeficiency syndrome due to defects in adaptive immunity null http://www.orpha.net/ORDO/Orphanet_331217 node Orphanet_79106 Eiken syndrome null http://www.orpha.net/ORDO/Orphanet_79106 node EFO_1000972 hyperglobulinemic purpura null http://www.ebi.ac.uk/efo/EFO_1000972 node NCBITaxon_4579 Zea mays subsp. mexicana null http://purl.obolibrary.org/obo/NCBITaxon_4579 node CL_0002057 CD14-positive, CD16-negative classical monocyte This cell type is compatible with the HIPC Lyoplate markers for 'CD16- monocyte'. The markers used in the definition are associated with human monocytes. http://purl.obolibrary.org/obo/CL_0002057 node MONDO_0002320 congenital nervous system disorder null http://purl.obolibrary.org/obo/MONDO_0002320 node Orphanet_9 Tetrasomy X null http://www.orpha.net/ORDO/Orphanet_9 node Orphanet_655 Nephronophthisis null http://www.orpha.net/ORDO/Orphanet_655 node Orphanet_294986 Apodia null http://www.orpha.net/ORDO/Orphanet_294986 node EFO_1000785 Sezary's disease null http://www.ebi.ac.uk/efo/EFO_1000785 node MONDO_0002167 rectum malignant melanoma null http://purl.obolibrary.org/obo/MONDO_0002167 node Orphanet_174 Metaphyseal chondrodysplasia, Schmid type null http://www.orpha.net/ORDO/Orphanet_174 node EFO_0003838 obsolete_inflammation null http://www.ebi.ac.uk/efo/EFO_0003838 node EFO_0006482 SCC-15 null http://www.ebi.ac.uk/efo/EFO_0006482 node EFO_0001425 ischemic cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_0001425 node MONDO_0020672 vascular occlusion disorder null http://purl.obolibrary.org/obo/MONDO_0020672 node UBERON_0006240 future forebrain null http://purl.obolibrary.org/obo/UBERON_0006240 node Orphanet_264431 Partial duplication of the short arm of chromosome 1 null http://www.orpha.net/ORDO/Orphanet_264431 node MONDO_0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome null http://purl.obolibrary.org/obo/MONDO_0011071 node NCBITaxon_74547 Prochlorococcus marinus str. MIT 9313 null http://purl.obolibrary.org/obo/NCBITaxon_74547 node HP_0001518 Small for gestational age null http://purl.obolibrary.org/obo/HP_0001518 node Orphanet_98604 Congenital alacrima null http://www.orpha.net/ORDO/Orphanet_98604 node EFO_0001729 biomaterial provider null http://www.ebi.ac.uk/efo/EFO_0001729 node EFO_0008042 C-C motif chemokine 14 measurement null http://www.ebi.ac.uk/efo/EFO_0008042 node NCBITaxon_9749 Delphinapterus leucas null http://purl.obolibrary.org/obo/NCBITaxon_9749 node MONDO_0016996 NK-cell enteropathy Editor note: TODO - complete axioms http://purl.obolibrary.org/obo/MONDO_0016996 node EFO_0007501 strongyloidiasis null http://www.ebi.ac.uk/efo/EFO_0007501 node NCBITaxon_8153 Haplochromis burtoni null http://purl.obolibrary.org/obo/NCBITaxon_8153 node EFO_0010444 triacylglycerol 60:12 measurement null http://www.ebi.ac.uk/efo/EFO_0010444 node Orphanet_353217 Epileptic encephalopathy with global cerebral demyelination null http://www.orpha.net/ORDO/Orphanet_353217 node UBERON_0001296 myometrium null http://purl.obolibrary.org/obo/UBERON_0001296 node Orphanet_3270 Radio-ulnar synostosis - intellectual disability - hypotonia null http://www.orpha.net/ORDO/Orphanet_3270 node CL_0000845 marginal zone B cell MZ B cells are reportedly CD1-positive (mice), CD20-positive, CD48-positive, CD84-positive, CD150-positive, CD229-positive, and CD352-positive. http://purl.obolibrary.org/obo/CL_0000845 node MONDO_0020760 skin squamous cell carcinoma in situ null http://purl.obolibrary.org/obo/MONDO_0020760 node HP_0000283 Broad face Note that broad face is distinct from round face. http://purl.obolibrary.org/obo/HP_0000283 node Orphanet_90307 Parkes Weber syndrome null http://www.orpha.net/ORDO/Orphanet_90307 node EFO_1000180 Clear Cell Meningioma null http://www.ebi.ac.uk/efo/EFO_1000180 node NCBITaxon_38817 Gephyrocapsa oceanica null http://purl.obolibrary.org/obo/NCBITaxon_38817 node EFO_0002253 NCI-H1436 null http://www.ebi.ac.uk/efo/EFO_0002253 node EFO_0001326 SALK_049497 null http://www.ebi.ac.uk/efo/EFO_0001326 node MONDO_0021681 sexually transmitted disease null http://purl.obolibrary.org/obo/MONDO_0021681 node EFO_0009101 age at first birth measurement null http://www.ebi.ac.uk/efo/EFO_0009101 node EFO_0008130 fibroblast growth factor basic measurement null http://www.ebi.ac.uk/efo/EFO_0008130 node EFO_0001149 GM12750 null http://www.ebi.ac.uk/efo/EFO_0001149 node EFO_0000671 obsolete_progeria syndrome null http://www.ebi.ac.uk/efo/EFO_0000671 node Orphanet_98505 Genetic motor neuron disease null http://www.orpha.net/ORDO/Orphanet_98505 node EFO_0004384 weight percent by volume null http://www.ebi.ac.uk/efo/EFO_0004384 node EFO_0001078 Pseudomonas aeruginosa PA14 infection null http://www.ebi.ac.uk/efo/EFO_0001078 node EFO_0000494 feature extraction null http://www.ebi.ac.uk/efo/EFO_0000494 node EFO_1001175 secondary Parkinson disease null http://www.ebi.ac.uk/efo/EFO_1001175 node EFO_0008351 amyloid deposition measurement null http://www.ebi.ac.uk/efo/EFO_0008351 node EFO_0004197 hepatitis B virus infection null http://www.ebi.ac.uk/efo/EFO_0004197 node Orphanet_163727 Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp null http://www.orpha.net/ORDO/Orphanet_163727 node CL_0000933 type II NK T cell secreting interleukin-4 null http://purl.obolibrary.org/obo/CL_0000933 node EFO_0004678 obsolete_response to statin null http://www.ebi.ac.uk/efo/EFO_0004678 node MONDO_0001128 nasal cavity cancer null http://purl.obolibrary.org/obo/MONDO_0001128 node EFO_0009628 abnormal result of function studies null http://www.ebi.ac.uk/efo/EFO_0009628 node CHEBI_60479 lysophosphatidylcholine null http://purl.obolibrary.org/obo/CHEBI_60479 node Orphanet_275745 Alpha-thalassemia and related diseases null http://www.orpha.net/ORDO/Orphanet_275745 node EFO_0002341 SKUT1 null http://www.ebi.ac.uk/efo/EFO_0002341 node MONDO_0033948 acquired angioedema with C1Inh deficiency null http://purl.obolibrary.org/obo/MONDO_0033948 node EFO_1000081 Anal Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000081 node Orphanet_847 Alpha-thalassemia - X-linked intellectual disability syndrome Editor note: in DO this is indirectly classified as AR, which is wrong. Here we separate AT from AT-like diseases. http://www.orpha.net/ORDO/Orphanet_847 node Orphanet_411602 Hereditary late-onset Parkinson disease null http://www.orpha.net/ORDO/Orphanet_411602 node EFO_0009412 interleukin 1 alpha measurement null http://www.ebi.ac.uk/efo/EFO_0009412 node EFO_0009207 obsolete_Glycosylated Hemoglobin Measurement null http://www.ebi.ac.uk/efo/EFO_0009207 node CL_0000540 neuron These cells are also reportedly CD4-negative and CD200-positive. They are also capable of producing CD40L and IFN-gamma. http://purl.obolibrary.org/obo/CL_0000540 node EFO_0004285 albuminuria null http://www.ebi.ac.uk/efo/EFO_0004285 node EFO_0006685 NCI-H2795 null http://www.ebi.ac.uk/efo/EFO_0006685 node Orphanet_158300 Rare genetic hematologic disease null http://www.orpha.net/ORDO/Orphanet_158300 node MONDO_0020704 inherited rippling muscle disease null http://purl.obolibrary.org/obo/MONDO_0020704 node EFO_0004122 obsolete_neurofibromatosis type II null http://www.ebi.ac.uk/efo/EFO_0004122 node EFO_1001345 Hepatitis, Alcoholic null http://www.ebi.ac.uk/efo/EFO_1001345 node Orphanet_1566 Dandy-Walker malformation - postaxial polydactyly null http://www.orpha.net/ORDO/Orphanet_1566 node EFO_1001826 Poroma null http://www.ebi.ac.uk/efo/EFO_1001826 node MONDO_0020286 aortic malformation null http://purl.obolibrary.org/obo/MONDO_0020286 node EFO_0005775 aortic disease null http://www.ebi.ac.uk/efo/EFO_0005775 node Orphanet_98598 Congenital absence of the eyebrow/eyelashes null http://www.orpha.net/ORDO/Orphanet_98598 node HP_0030895 Abnormal gastrointestinal motility null http://purl.obolibrary.org/obo/HP_0030895 node EFO_0000958 obsolete_hair null http://www.ebi.ac.uk/efo/EFO_0000958 node OBI_0000552 reverse transcription PCR null http://purl.obolibrary.org/obo/OBI_0000552 node EFO_0006568 EFM-192A null http://www.ebi.ac.uk/efo/EFO_0006568 node CHEBI_16810 2-oxoglutarate(2-) null http://purl.obolibrary.org/obo/CHEBI_16810 node UBERON_2000732 somite 3 null http://purl.obolibrary.org/obo/UBERON_2000732 node EFO_0004210 gallstones null http://www.ebi.ac.uk/efo/EFO_0004210 node EFO_0010819 clonal hematopoiesis null http://www.ebi.ac.uk/efo/EFO_0010819 node EFO_0010267 autosomal dominant intermediate Charcot-Marie-Tooth disease type G null http://www.ebi.ac.uk/efo/EFO_0010267 node Orphanet_261290 Trisomy 17p null http://www.orpha.net/ORDO/Orphanet_261290 node EFO_1001433 Taeniasis null http://www.ebi.ac.uk/efo/EFO_1001433 node CHEBI_4903 17alpha-ethynylestradiol null http://purl.obolibrary.org/obo/CHEBI_4903 node Orphanet_314802 Short stature due to partial GHR deficiency null http://www.orpha.net/ORDO/Orphanet_314802 node Orphanet_1654 Natal teeth - intestinal pseudoobstruction - patent ductus null http://www.orpha.net/ORDO/Orphanet_1654 node EFO_0005863 embryonic stage 4 Temporal ordering number - 170. http://www.ebi.ac.uk/efo/EFO_0005863 node EFO_0004936 NX lymph node stage null http://www.ebi.ac.uk/efo/EFO_0004936 node EFO_0000565 leukemia null http://www.ebi.ac.uk/efo/EFO_0000565 node NCIT_C87277 Hippuric Acid An acyl glycine produced by the conjugation of benzoic acid and glycine, found as a normal component in urine as a metabolite of aromatic compounds from food. Increased urine hippuric acid content may have antibacterial effects. http://purl.obolibrary.org/obo/NCIT_C87277 node EFO_1001246 Yersinia pseudotuberculosis infectious disease null http://www.ebi.ac.uk/efo/EFO_1001246 node PO_0007078 rosette growth complete stage null http://purl.obolibrary.org/obo/PO_0007078 node MONDO_0018234 dysostosis null http://purl.obolibrary.org/obo/MONDO_0018234 node HP_0001998 Neonatal hypoglycemia null http://purl.obolibrary.org/obo/HP_0001998 node EFO_0006656 mPAC L20 null http://www.ebi.ac.uk/efo/EFO_0006656 node HP_0002616 Aortic root aneurysm null http://purl.obolibrary.org/obo/HP_0002616 node HP_0011297 Abnormal digit morphology null http://purl.obolibrary.org/obo/HP_0011297 node MONDO_0007796 hypoparathyroidism, familial isolated 1 null http://purl.obolibrary.org/obo/MONDO_0007796 node EFO_0000179 Goto-Kakizaki null http://www.ebi.ac.uk/efo/EFO_0000179 node NCBITaxon_6390 Enchytraeus albidus null http://purl.obolibrary.org/obo/NCBITaxon_6390 node EFO_0007981 response to thiazide null http://www.ebi.ac.uk/efo/EFO_0007981 node EFO_0005060 instrument part null http://www.ebi.ac.uk/efo/EFO_0005060 node EFO_0010168 spondyloepiphyseal dysplasia, Kondo-Fu type null http://www.ebi.ac.uk/efo/EFO_0010168 node MONDO_0009559 mandibulofacial dysostosis with mental deficiency null http://purl.obolibrary.org/obo/MONDO_0009559 node CL_0000066 epithelial cell null http://purl.obolibrary.org/obo/CL_0000066 node Orphanet_207060 Qualitative or quantitative defects of alpha-sarcoglycan null http://www.orpha.net/ORDO/Orphanet_207060 node EFO_0005951 sexual dimorphism null http://www.ebi.ac.uk/efo/EFO_0005951 node MONDO_0042233 disseminated candidiasis null http://purl.obolibrary.org/obo/MONDO_0042233 node HP_0004482 Relative macrocephaly null http://purl.obolibrary.org/obo/HP_0004482 node Orphanet_140963 Bilateral microtia - deafness - cleft palate null http://www.orpha.net/ORDO/Orphanet_140963 node Orphanet_295030 Congenital shoulder dislocation null http://www.orpha.net/ORDO/Orphanet_295030 node Orphanet_331187 Immunodeficiency due to MASP-2 deficiency null http://www.orpha.net/ORDO/Orphanet_331187 node CHEBI_38070 anti-arrhythmia drug null http://purl.obolibrary.org/obo/CHEBI_38070 node MONDO_0007903 Li-Fraumeni syndrome 1 null http://purl.obolibrary.org/obo/MONDO_0007903 node CHEBI_28939 N-acetyl-L-cysteine null http://purl.obolibrary.org/obo/CHEBI_28939 node CHEBI_63948 trimethyltin null http://purl.obolibrary.org/obo/CHEBI_63948 node Orphanet_98985 Cataract with Y-shaped suture opacities null http://www.orpha.net/ORDO/Orphanet_98985 node GO_0098901 regulation of cardiac muscle cell action potential null http://purl.obolibrary.org/obo/GO_0098901 node EFO_0003018 ILSXISS28/TejJ null http://www.ebi.ac.uk/efo/EFO_0003018 node Orphanet_2940 Porencephaly null http://www.orpha.net/ORDO/Orphanet_2940 node Orphanet_98669 Congenital vitreoretinal dysplasia null http://www.orpha.net/ORDO/Orphanet_98669 node CL_0002321 embryonic cell null http://purl.obolibrary.org/obo/CL_0002321 node CL_3000001 Hofbauer cell null http://purl.obolibrary.org/obo/CL_3000001 node Orphanet_258 Congenital muscular dystrophy type 1A null http://www.orpha.net/ORDO/Orphanet_258 node Orphanet_262137 Partial deletion of the long arm of chromosome 17 null http://www.orpha.net/ORDO/Orphanet_262137 node EFO_0010314 lingual gyrus volume measurement null http://www.ebi.ac.uk/efo/EFO_0010314 node NCBITaxon_6279 Brugia malayi null http://purl.obolibrary.org/obo/NCBITaxon_6279 node MONDO_0037255 ovarian serous tumor null http://purl.obolibrary.org/obo/MONDO_0037255 node Orphanet_85202 Keutel syndrome null http://www.orpha.net/ORDO/Orphanet_85202 node Orphanet_137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa null http://www.orpha.net/ORDO/Orphanet_137893 node EFO_0009697 pathological complete response null http://www.ebi.ac.uk/efo/EFO_0009697 node Orphanet_98910 Alpha-crystallinopathy null http://www.orpha.net/ORDO/Orphanet_98910 node GO_0009536 plastid null http://purl.obolibrary.org/obo/GO_0009536 node BTO_0000214 cell culture null http://purl.obolibrary.org/obo/BTO_0000214 node Orphanet_98757 Spinocerebellar ataxia type 3 null http://www.orpha.net/ORDO/Orphanet_98757 node Orphanet_207031 Rare disease with corpus callosum agenesis associated with peripheral neuropathy null http://www.orpha.net/ORDO/Orphanet_207031 node Orphanet_2841 Familial benign chronic pemphigus null http://www.orpha.net/ORDO/Orphanet_2841 node HP_0000753 Autism with high cognitive abilities null http://purl.obolibrary.org/obo/HP_0000753 node EO_0007317 Nilaparvata lugens null http://purl.obolibrary.org/obo/EO_0007317 node EFO_0006360 928 mel null http://www.ebi.ac.uk/efo/EFO_0006360 node MONDO_0015748 hereditary mucosal leukokeratosis null http://purl.obolibrary.org/obo/MONDO_0015748 node NCBITaxon_8237 Thunnus thynnus null http://purl.obolibrary.org/obo/NCBITaxon_8237 node EFO_0009962 response to radioiodine null http://www.ebi.ac.uk/efo/EFO_0009962 node MONDO_0020846 mental retardation, autosomal recessive 64 null http://purl.obolibrary.org/obo/MONDO_0020846 node Orphanet_319651 Constitutional megaloblastic anemia with severe neurologic disease null http://www.orpha.net/ORDO/Orphanet_319651 node EFO_0009785 remission null http://www.ebi.ac.uk/efo/EFO_0009785 node MONDO_0024315 parasitic endophthalmitis null http://purl.obolibrary.org/obo/MONDO_0024315 node Orphanet_70 Proximal spinal muscular atrophy null http://www.orpha.net/ORDO/Orphanet_70 node EFO_0009598 feeling miserable measurement null http://www.ebi.ac.uk/efo/EFO_0009598 node UBERON_2001312 dorsal anterior lateral line ganglion null http://purl.obolibrary.org/obo/UBERON_2001312 node NCBITaxon_381124 Zea mays subsp. mays null http://purl.obolibrary.org/obo/NCBITaxon_381124 node EFO_1000588 Thyroid Gland Hyalinizing Trabecular Tumor null http://www.ebi.ac.uk/efo/EFO_1000588 node EFO_1000607 Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells null http://www.ebi.ac.uk/efo/EFO_1000607 node EFO_0007234 dicrocoeliasis null http://www.ebi.ac.uk/efo/EFO_0007234 node EFO_0007029 SC null http://www.ebi.ac.uk/efo/EFO_0007029 node EFO_0002131 CGTHW1 null http://www.ebi.ac.uk/efo/EFO_0002131 node HP_0040151 Epiblepharon of lower lid null http://purl.obolibrary.org/obo/HP_0040151 node CHEBI_85701 diacylglycerol 36:2 null http://purl.obolibrary.org/obo/CHEBI_85701 node CHEBI_2637 amikacin null http://purl.obolibrary.org/obo/CHEBI_2637 node EFO_0009015 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome null http://www.ebi.ac.uk/efo/EFO_0009015 node EFO_0003597 obsolete_rhombomere 7 null http://www.ebi.ac.uk/efo/EFO_0003597 node EFO_0007117 carotid artery intima media thickness null http://www.ebi.ac.uk/efo/EFO_0007117 node Orphanet_138055 Pierre Robin syndrome associated with bone disease null http://www.orpha.net/ORDO/Orphanet_138055 node EFO_0002032 Ara-C-resistant murine leukemia null http://www.ebi.ac.uk/efo/EFO_0002032 node EFO_0000064 CS57701 null http://www.ebi.ac.uk/efo/EFO_0000064 node MONDO_0021460 benign neoplasm of salivary gland null http://purl.obolibrary.org/obo/MONDO_0021460 node EFO_0009287 interventricular septum thickness null http://www.ebi.ac.uk/efo/EFO_0009287 node FBbt_00005523 inclusive hindgut primordium null http://purl.obolibrary.org/obo/FBbt_00005523 node CL_0002006 Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell Markers are associated with mouse cells. http://purl.obolibrary.org/obo/CL_0002006 node HP_0031122 Two-raphe bicuspid aortic valve null http://purl.obolibrary.org/obo/HP_0031122 node HP_0100559 Lower limb asymmetry null http://purl.obolibrary.org/obo/HP_0100559 node Orphanet_2197 Idiopathic hypercalciuria Editor note: consider grouping class http://www.orpha.net/ORDO/Orphanet_2197 node EFO_1000182 Colon Burkitt Lymphoma null http://www.ebi.ac.uk/efo/EFO_1000182 node Orphanet_281139 Annular epidermolytic ichthyosis null http://www.orpha.net/ORDO/Orphanet_281139 node EFO_0009103 theory of mind measurement null http://www.ebi.ac.uk/efo/EFO_0009103 node EFO_0003685 obsolete_ethmoid cartilage null http://www.ebi.ac.uk/efo/EFO_0003685 node EFO_0002758 low fat diet null http://www.ebi.ac.uk/efo/EFO_0002758 node EFO_0000766 obsolete_hereditary leiomyomatosis and renal cell cancer null http://www.ebi.ac.uk/efo/EFO_0000766 node EFO_0000152 CS57873 null http://www.ebi.ac.uk/efo/EFO_0000152 node EFO_0009375 184-hTERT null http://www.ebi.ac.uk/efo/EFO_0009375 node CHEBI_34005 (9R,13R)-12-oxo-phytodienoic acid null http://purl.obolibrary.org/obo/CHEBI_34005 node MONDO_0044655 c12orf65-related combined oxidative phosphorylation defect null http://purl.obolibrary.org/obo/MONDO_0044655 node NCBITaxon_6943 Amblyomma americanum null http://purl.obolibrary.org/obo/NCBITaxon_6943 node Orphanet_85284 BRESEK syndrome null http://www.orpha.net/ORDO/Orphanet_85284 node EFO_0003773 obsolete_endocrine system component null http://www.ebi.ac.uk/efo/EFO_0003773 node EFO_0000649 periodontitis null http://www.ebi.ac.uk/efo/EFO_0000649 node EFO_1000083 Anaplastic Large Cell Lymphoma, ALK-Negative null http://www.ebi.ac.uk/efo/EFO_1000083 node GO_0055086 nucleobase-containing small molecule metabolic process null http://purl.obolibrary.org/obo/GO_0055086 node MONDO_0000858 neuronal intestinal dysplasia null http://purl.obolibrary.org/obo/MONDO_0000858 node Orphanet_320342 Pure or complex autosomal dominant spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_320342 node HP_0010049 Short metacarpal Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm. http://purl.obolibrary.org/obo/HP_0010049 node FBbt_00007435 endocrine system component null http://purl.obolibrary.org/obo/FBbt_00007435 node MONDO_0018778 intermediate Charcot-Marie-Tooth disease null http://purl.obolibrary.org/obo/MONDO_0018778 node Orphanet_352636 Phalangeal microgeodic syndrome null http://www.orpha.net/ORDO/Orphanet_352636 node MONDO_0044743 major salivary gland cancer null http://purl.obolibrary.org/obo/MONDO_0044743 node Orphanet_85167 Spondylometaphyseal dysplasia - cone-rod dystrophy null http://www.orpha.net/ORDO/Orphanet_85167 node CHEBI_17774 pimelate(1-) null http://purl.obolibrary.org/obo/CHEBI_17774 node EFO_1001124 primary Bacillaceae infectious disease null http://www.ebi.ac.uk/efo/EFO_1001124 node EFO_0008959 TaDa null http://www.ebi.ac.uk/efo/EFO_0008959 node CLO_0015082 GM17133 null http://purl.obolibrary.org/obo/CLO_0015082 node MONDO_0021195 disease by cellular process disrupted null http://purl.obolibrary.org/obo/MONDO_0021195 node NCBITaxon_489 Neisseria polysaccharea null http://purl.obolibrary.org/obo/NCBITaxon_489 node EFO_0004627 IGF-1 measurement null http://www.ebi.ac.uk/efo/EFO_0004627 node EFO_0000256 obsolete_anlage in statu nascendi null http://www.ebi.ac.uk/efo/EFO_0000256 node EFO_0010882 HG03457 null http://www.ebi.ac.uk/efo/EFO_0010882 node EFO_0000737 well-differentiated sarcoma null http://www.ebi.ac.uk/efo/EFO_0000737 node EFO_0005367 CCD-8Lu null http://www.ebi.ac.uk/efo/EFO_0005367 node HP_0002307 Drooling null http://purl.obolibrary.org/obo/HP_0002307 node CL_0000624 CD4-positive, alpha-beta T cell null http://purl.obolibrary.org/obo/CL_0000624 node CLO_0027473 GM15227 null http://purl.obolibrary.org/obo/CLO_0027473 node EFO_0007770 post-operative fentanyl consumption measurement null http://www.ebi.ac.uk/efo/EFO_0007770 node Orphanet_324442 Autosomal recessive axonal neuropathy with neuromyotonia null http://www.orpha.net/ORDO/Orphanet_324442 node Orphanet_324718 Hereditary cerebral hemorrhage with amyloidosis, Flemish type null http://www.orpha.net/ORDO/Orphanet_324718 node MONDO_0043009 genetic lethal multiple congenital anomalies/dysmorphic syndrome null http://purl.obolibrary.org/obo/MONDO_0043009 node EFO_0000344 circular visceral mesoderm primordium null http://www.ebi.ac.uk/efo/EFO_0000344 node EFO_0009964 bipolar II disorder null http://www.ebi.ac.uk/efo/EFO_0009964 node EFO_1001025 lymphangiectasis null http://www.ebi.ac.uk/efo/EFO_1001025 node Orphanet_1246 Brachydactyly - nystagmus - cerebellar ataxia Editor note: check GARD http://www.orpha.net/ORDO/Orphanet_1246 node MONDO_0021096 papillary epithelial neoplasm null http://purl.obolibrary.org/obo/MONDO_0021096 node EFO_0005455 SHEF-3 null http://www.ebi.ac.uk/efo/EFO_0005455 node Orphanet_169796 Moderately severe hemophilia B null http://www.orpha.net/ORDO/Orphanet_169796 node EFO_0001981 obsolete_mesoderm null http://www.ebi.ac.uk/efo/EFO_0001981 node UBERON_3010740 ramus auricularis of the vagus nerve null http://purl.obolibrary.org/obo/UBERON_3010740 node MONDO_0002052 lymphadenitis (disease) null http://purl.obolibrary.org/obo/MONDO_0002052 node Orphanet_79319 MPI-CDG null http://www.orpha.net/ORDO/Orphanet_79319 node Orphanet_317473 Pancytopenia due to IKZF1 mutations null http://www.orpha.net/ORDO/Orphanet_317473 node MONDO_0002533 papillary adenoma null http://purl.obolibrary.org/obo/MONDO_0002533 node Orphanet_1328 Camurati-Engelmann disease null http://www.orpha.net/ORDO/Orphanet_1328 node EFO_1000998 jejunal cancer null http://www.ebi.ac.uk/efo/EFO_1000998 node Orphanet_1809 Hidrotic ectodermal dysplasia, Halal type null http://www.orpha.net/ORDO/Orphanet_1809 node EFO_0008467 behavioural inhibitory control measurement null http://www.ebi.ac.uk/efo/EFO_0008467 node Orphanet_370079 Proximal 16p11.2 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_370079 node HP_0002002 Deep philtrum Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges. http://purl.obolibrary.org/obo/HP_0002002 node Orphanet_90642 Syndromic genetic deafness null http://www.orpha.net/ORDO/Orphanet_90642 node MONDO_0032891 aneurysm, intracranial berry, 12 null http://purl.obolibrary.org/obo/MONDO_0032891 node EFO_0010029 SPLASH null http://www.ebi.ac.uk/efo/EFO_0010029 node EFO_0002859 SK-N-AS null http://www.ebi.ac.uk/efo/EFO_0002859 node EFO_0008255 particulate matter air pollution measurement null http://www.ebi.ac.uk/efo/EFO_0008255 node EFO_0007306 herpangina null http://www.ebi.ac.uk/efo/EFO_0007306 node Orphanet_2311 Autosomal recessive spondylocostal dysostosis null http://www.orpha.net/ORDO/Orphanet_2311 node UO_0000033 day null http://purl.obolibrary.org/obo/UO_0000033 node Orphanet_329242 Congenital chronic diarrhea with protein-losing enteropathy null http://www.orpha.net/ORDO/Orphanet_329242 node EFO_0007714 24 hr schistosomulum null http://www.ebi.ac.uk/efo/EFO_0007714 node MONDO_0002621 extraosseous osteosarcoma null http://purl.obolibrary.org/obo/MONDO_0002621 node UBERON_0004212 glomerular capillary null http://purl.obolibrary.org/obo/UBERON_0004212 node Orphanet_423 Malignant hyperthermia null http://www.orpha.net/ORDO/Orphanet_423 node MONDO_0024468 anterior pituitary gland disease null http://purl.obolibrary.org/obo/MONDO_0024468 node MONDO_0012806 ectodermal dysplasia and immunodeficiency 2 null http://purl.obolibrary.org/obo/MONDO_0012806 node GO_0044763 single-organism cellular process null http://purl.obolibrary.org/obo/GO_0044763 node MONDO_0025294 tick-borne infectious disease null http://purl.obolibrary.org/obo/MONDO_0025294 node EFO_0010117 pyruvate measurement null http://www.ebi.ac.uk/efo/EFO_0010117 node EFO_0002947 parous null http://www.ebi.ac.uk/efo/EFO_0002947 node MONDO_0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 null http://purl.obolibrary.org/obo/MONDO_0029136 node EFO_0008343 sex interaction measurement null http://www.ebi.ac.uk/efo/EFO_0008343 node MONDO_0004586 rheumatoid lung disease null http://purl.obolibrary.org/obo/MONDO_0004586 node UO_0000121 angle unit null http://purl.obolibrary.org/obo/UO_0000121 node Orphanet_309246 GM2-gangliosidosis, AB variant null http://www.orpha.net/ORDO/Orphanet_309246 node EFO_0008156 human Chorionic Gonadotropin measurement null http://www.ebi.ac.uk/efo/EFO_0008156 node EFO_0007802 obsessive-compulsive symptom measurement null http://www.ebi.ac.uk/efo/EFO_0007802 node Orphanet_511 Maple syrup urine disease Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct http://www.orpha.net/ORDO/Orphanet_511 node UBERON_0001597 masseter muscle null http://purl.obolibrary.org/obo/UBERON_0001597 node EFO_0007615 thrombus formation measurement null http://www.ebi.ac.uk/efo/EFO_0007615 node GO_0008283 cell proliferation This term was moved out from being a child of 'cellular process' because it is a cell population-level process, and cellular processes are restricted to those processes that involve individual cells. Also note that this term is intended to be used for the proliferation of cells within a multicellular organism, not for the expansion of a population of single-celled organisms. http://purl.obolibrary.org/obo/GO_0008283 node HP_0001848 Calcaneovalgus deformity Calcaneovalgus deformity may be related to abnormal positioning of the foot in utero and can resolve spontaneously after birth. http://purl.obolibrary.org/obo/HP_0001848 node CHEBI_25355 mitochondrial respiratory-chain inhibitor null http://purl.obolibrary.org/obo/CHEBI_25355 node MONDO_0002727 olfactory nerve disease null http://purl.obolibrary.org/obo/MONDO_0002727 node EFO_0002554 obsolete_gastric fundus null http://www.ebi.ac.uk/efo/EFO_0002554 node EFO_0009095 psychological measurement null http://www.ebi.ac.uk/efo/EFO_0009095 node HP_0000234 Abnormality of the head null http://purl.obolibrary.org/obo/HP_0000234 node EFO_0007197 cecal benign neoplasm null http://www.ebi.ac.uk/efo/EFO_0007197 node Orphanet_163979 X-linked intellectual disability - craniofacioskeletal syndrome null http://www.orpha.net/ORDO/Orphanet_163979 node CHEBI_72995 3-hydroxybutyrylcarnitine null http://purl.obolibrary.org/obo/CHEBI_72995 node EFO_0000622 neurofibroma null http://www.ebi.ac.uk/efo/EFO_0000622 node EFO_0004335 short-term memory null http://www.ebi.ac.uk/efo/EFO_0004335 node EFO_0003408 obsolete_larval labral segment null http://www.ebi.ac.uk/efo/EFO_0003408 node NCBITaxon_112509 Hordeum vulgare subsp. vulgare null http://purl.obolibrary.org/obo/NCBITaxon_112509 node EFO_0009183 empathy measurement null http://www.ebi.ac.uk/efo/EFO_0009183 node CHEBI_135752 tafenoquine null http://purl.obolibrary.org/obo/CHEBI_135752 node MONDO_0021678 gram-negative bacterial infections Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now http://purl.obolibrary.org/obo/MONDO_0021678 node CHEBI_6809 methamphetamine null http://purl.obolibrary.org/obo/CHEBI_6809 node EFO_0004600 genomic data null http://www.ebi.ac.uk/efo/EFO_0004600 node EFO_0000710 obsolete_strain this class was originally 'strain or line' http://www.ebi.ac.uk/efo/EFO_0000710 node CHEBI_16919 creatine null http://purl.obolibrary.org/obo/CHEBI_16919 node EFO_0003376 obsolete_Malpighian tubule main body primordium null http://www.ebi.ac.uk/efo/EFO_0003376 node EFO_0004423 exon null http://www.ebi.ac.uk/efo/EFO_0004423 node EFO_0001702 temperature null http://www.ebi.ac.uk/efo/EFO_0001702 node Orphanet_319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency null http://www.orpha.net/ORDO/Orphanet_319600 node Orphanet_306756 Epilepsy and/or ataxia with myoclonus as major feature null http://www.orpha.net/ORDO/Orphanet_306756 node MONDO_0018790 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy null http://purl.obolibrary.org/obo/MONDO_0018790 node EFO_0003850 adrenal gland neoplasm null http://www.ebi.ac.uk/efo/EFO_0003850 node EFO_0007973 palmitoleic acid measurement null http://www.ebi.ac.uk/efo/EFO_0007973 node HP_0000603 Central scotoma null http://purl.obolibrary.org/obo/HP_0000603 node EFO_0006388 cystic renal cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0006388 node Orphanet_401800 Autosomal recessive spastic paraplegia type 60 null http://www.orpha.net/ORDO/Orphanet_401800 node Orphanet_363203 Ring chromosome null http://www.orpha.net/ORDO/Orphanet_363203 node EFO_0006869 skin conductance response frequency null http://www.ebi.ac.uk/efo/EFO_0006869 node EFO_0004511 femoral neck bone geometry null http://www.ebi.ac.uk/efo/EFO_0004511 node Orphanet_228374 Severe early-onset axonal neuropathy due to NEFL deficiency null http://www.orpha.net/ORDO/Orphanet_228374 node Orphanet_261938 Partial deletion of the short arm of chromosome 10 null http://www.orpha.net/ORDO/Orphanet_261938 node PO_0020104 leaf sheath If you are annotating to this term, please add an additional annotation to vascular leaf (PO:0009025) or non-vascular leaf (PO:0025075), depending on the species. All annotations for angiosperms, gymnosperms, and pteridophytes should go to vascular leaf and all annotations for bryophytes should go to non-vascular leaf. http://purl.obolibrary.org/obo/PO_0020104 node Orphanet_295022 Congenital pseudoarthrosis of the fibula null http://www.orpha.net/ORDO/Orphanet_295022 node EFO_0006476 RCM-1 null http://www.ebi.ac.uk/efo/EFO_0006476 node Orphanet_254898 Deafness - encephaloneuropathy - obesity - valvulopathy null http://www.orpha.net/ORDO/Orphanet_254898 node Orphanet_101953 Rare dyslipidemia null http://www.orpha.net/ORDO/Orphanet_101953 node EFO_0010597 NF-kappa-B essential modulator measurement null http://www.ebi.ac.uk/efo/EFO_0010597 node EFO_0006289 OCI-AML3 null http://www.ebi.ac.uk/efo/EFO_0006289 node EFO_1000209 Craniopharyngioma null http://www.ebi.ac.uk/efo/EFO_1000209 node MONDO_0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures null http://purl.obolibrary.org/obo/MONDO_0060759 node NCBITaxon_35814 Bordetella holmesii null http://purl.obolibrary.org/obo/NCBITaxon_35814 node MONDO_0007747 isolated hyperchlorhidrosis null http://purl.obolibrary.org/obo/MONDO_0007747 node EFO_0010306 Grey matter density measurement null http://www.ebi.ac.uk/efo/EFO_0010306 node UBERON_0002034 suprachiasmatic nucleus null http://purl.obolibrary.org/obo/UBERON_0002034 node Orphanet_309796 Rhizomelic chondrodysplasia punctata type 2 null http://www.orpha.net/ORDO/Orphanet_309796 node EFO_0010119 omega-3 polyunsaturated fatty acid measurement null http://www.ebi.ac.uk/efo/EFO_0010119 node CL_0002352 gestational hematopoietic stem cell null http://purl.obolibrary.org/obo/CL_0002352 node Orphanet_48 Congenital bilateral absence of vas deferens null http://www.orpha.net/ORDO/Orphanet_48 node HP_0030897 Decreased intestinal transit time null http://purl.obolibrary.org/obo/HP_0030897 node MONDO_0004820 peripheral nerve schwannoma Editor note: consider merging into parent, though NCIT treats as two http://purl.obolibrary.org/obo/MONDO_0004820 node PO_0007022 seed imbibition stage null http://purl.obolibrary.org/obo/PO_0007022 node Orphanet_100031 Hypoplastic amelogenesis imperfecta null http://www.orpha.net/ORDO/Orphanet_100031 node EFO_0008522 secondary progressive multiple sclerosis null http://www.ebi.ac.uk/efo/EFO_0008522 node UBERON_0005020 mucosa of tongue null http://purl.obolibrary.org/obo/UBERON_0005020 node Orphanet_280763 Severe intellectual disability and progressive spastic paraplegia null http://www.orpha.net/ORDO/Orphanet_280763 node MONDO_0000050 isolated congenital growth hormone deficiency null http://purl.obolibrary.org/obo/MONDO_0000050 node MONDO_0011842 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions null http://purl.obolibrary.org/obo/MONDO_0011842 node Orphanet_79183 Disorder of ketone body metabolism null http://www.orpha.net/ORDO/Orphanet_79183 node Orphanet_391389 Familial episodic pain syndrome with predominantly upper body involvement null http://www.orpha.net/ORDO/Orphanet_391389 node EFO_0006541 BICR 22 null http://www.ebi.ac.uk/efo/EFO_0006541 node EFO_0007867 response to gefitinib null http://www.ebi.ac.uk/efo/EFO_0007867 node Orphanet_2872 Cardiocranial syndrome, Pfeiffer type null http://www.orpha.net/ORDO/Orphanet_2872 node CL_0002440 Ly49D-positive natural killer cell, mouse null http://purl.obolibrary.org/obo/CL_0002440 node Orphanet_183506 Genetic central nervous system malformation null http://www.orpha.net/ORDO/Orphanet_183506 node EFO_0007772 calcaneal bone quantitative ultrasound measurement null http://www.ebi.ac.uk/efo/EFO_0007772 node PO_0007104 LP.15 fifteen leaves visible stage null http://purl.obolibrary.org/obo/PO_0007104 node CHEBI_26986 threonine null http://purl.obolibrary.org/obo/CHEBI_26986 node CL_0002253 epithelial cell of large intestine null http://purl.obolibrary.org/obo/CL_0002253 node Orphanet_331226 Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency Editor note: check if should be placed under MONDO:0018037 http://www.orpha.net/ORDO/Orphanet_331226 node EFO_1000473 Phosphaturic Mesenchymal Tumor null http://www.ebi.ac.uk/efo/EFO_1000473 node NCBITaxon_34275 Gossypium mustelinum null http://purl.obolibrary.org/obo/NCBITaxon_34275 node NCBITaxon_7108 Spodoptera frugiperda null http://purl.obolibrary.org/obo/NCBITaxon_7108 node UBERON_6005533 ventral epidermis primordium null http://purl.obolibrary.org/obo/UBERON_6005533 node MONDO_0012670 autosomal recessive nonsyndromic deafness 63 null http://purl.obolibrary.org/obo/MONDO_0012670 node Orphanet_90362 Primary intestinal lymphangiectasia null http://www.orpha.net/ORDO/Orphanet_90362 node EFO_0002157 D341Med null http://www.ebi.ac.uk/efo/EFO_0002157 node MONDO_0024633 hypertensive renal disease null http://purl.obolibrary.org/obo/MONDO_0024633 node Orphanet_98613 Conjunctival telangiectasia null http://www.orpha.net/ORDO/Orphanet_98613 node Orphanet_916 Aase-Smith syndrome null http://www.orpha.net/ORDO/Orphanet_916 node EFO_1000561 Tendon Sheath Fibroma null http://www.ebi.ac.uk/efo/EFO_1000561 node MONDO_0003778 primary immunodeficiency disease null http://purl.obolibrary.org/obo/MONDO_0003778 node EFO_0009899 10X 3' v2 sequencing null http://www.ebi.ac.uk/efo/EFO_0009899 node EFO_0009913 ossifying fibroma of the jaw null http://www.ebi.ac.uk/efo/EFO_0009913 node EFO_0009736 principal investigator null http://www.ebi.ac.uk/efo/EFO_0009736 node EFO_0004991 Myasthenia gravis null http://www.ebi.ac.uk/efo/EFO_0004991 node EFO_0004786 Mini-International Neuropsychiatric Interview null http://www.ebi.ac.uk/efo/EFO_0004786 node EFO_0008809 MIDAS null http://www.ebi.ac.uk/efo/EFO_0008809 node MONDO_0024247 benign eccrine neoplasm null http://purl.obolibrary.org/obo/MONDO_0024247 node Orphanet_254525 Paternal 14q32.2 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_254525 node BTO_0000155 bronchoalveolar lavage null http://purl.obolibrary.org/obo/BTO_0000155 node UBERON_0001288 loop of Henle null http://purl.obolibrary.org/obo/UBERON_0001288 node EFO_0008257 peptidyl-prolyl cis-trans isomerase E measurement null http://www.ebi.ac.uk/efo/EFO_0008257 node Orphanet_3262 Syngnathia multiple anomalies null http://www.orpha.net/ORDO/Orphanet_3262 node Orphanet_66630 Congenital pseudoarthrosis of clavicle null http://www.orpha.net/ORDO/Orphanet_66630 node Orphanet_1008 Alopecia - epilepsy - pyorrhea - intellectual disability null http://www.orpha.net/ORDO/Orphanet_1008 node NCBITaxon_4897 Schizosaccharomyces japonicus null http://purl.obolibrary.org/obo/NCBITaxon_4897 node EFO_0001198 L3055 null http://www.ebi.ac.uk/efo/EFO_0001198 node EFO_0002245 NALM6 null http://www.ebi.ac.uk/efo/EFO_0002245 node EFO_0001318 segmentation 10-13 somites null http://www.ebi.ac.uk/efo/EFO_0001318 node HP_0010881 Abnormality of the umbilical cord null http://purl.obolibrary.org/obo/HP_0010881 node NCBITaxon_3899 Trifolium repens null http://purl.obolibrary.org/obo/NCBITaxon_3899 node Orphanet_98701 Phakomatosis with eye involvement null http://www.orpha.net/ORDO/Orphanet_98701 node EFO_0004592 obsolete_thyroid stimulating hormone measurement null http://www.ebi.ac.uk/efo/EFO_0004592 node NCBITaxon_529916 Heliconius erato etylus x Heliconius himera null http://purl.obolibrary.org/obo/NCBITaxon_529916 node Orphanet_309025 Mevalonate kinase deficiency null http://www.orpha.net/ORDO/Orphanet_309025 node MONDO_0003222 central nervous system melanocytic neoplasm null http://purl.obolibrary.org/obo/MONDO_0003222 node EFO_0004874 memory performance null http://www.ebi.ac.uk/efo/EFO_0004874 node EFO_0009824 bringing up phlegm, sputum or mucus on most days, self-reported null http://www.ebi.ac.uk/efo/EFO_0009824 node Orphanet_353314 Pyruvate carboxylase deficiency, severe neonatal type null http://www.orpha.net/ORDO/Orphanet_353314 node EFO_0008345 response to duloxetine null http://www.ebi.ac.uk/efo/EFO_0008345 node EFO_0009260 non-melanoma skin carcinoma null http://www.ebi.ac.uk/efo/EFO_0009260 node NCBITaxon_13333 Amborella trichopoda null http://purl.obolibrary.org/obo/NCBITaxon_13333 node Orphanet_217049 Rare non-syndromic cataract null http://www.orpha.net/ORDO/Orphanet_217049 node EFO_0009637 pleural effusion null http://www.ebi.ac.uk/efo/EFO_0009637 node CHEBI_64098 N-(2,3-dihydro-1,4-benzodioxin-2-ylmethyl)-2-(2,6-dimethoxyphenoxy)ethanamine null http://purl.obolibrary.org/obo/CHEBI_64098 node EFO_1000689 ecthyma null http://www.ebi.ac.uk/efo/EFO_1000689 node Orphanet_329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome null http://www.orpha.net/ORDO/Orphanet_329332 node EFO_0008158 inosine-5'-monophosphate dehydrogenase 1 measurement null http://www.ebi.ac.uk/efo/EFO_0008158 node Orphanet_3163 SHORT syndrome null http://www.orpha.net/ORDO/Orphanet_3163 node EFO_0002333 SKMEL3 null http://www.ebi.ac.uk/efo/EFO_0002333 node EFO_0008639 2P-Seq null http://www.ebi.ac.uk/efo/EFO_0008639 node EFO_0010786 interleukin-10 receptor B measurement null http://www.ebi.ac.uk/efo/EFO_0010786 node MONDO_0018898 primary cutaneous lymphoma null http://purl.obolibrary.org/obo/MONDO_0018898 node EFO_0004680 obsolete_response to interferon beta null http://www.ebi.ac.uk/efo/EFO_0004680 node UBERON_0000007 pituitary gland Terminology note: hypophysis and pituitary gland are often used informally as synonyms, but the hypophysis also includes the small infundibular or pituitary stalk[Neumann 2020] http://purl.obolibrary.org/obo/UBERON_0000007 node CHEBI_35472 anti-inflammatory drug null http://purl.obolibrary.org/obo/CHEBI_35472 node MONDO_0003268 mixed glioma null http://purl.obolibrary.org/obo/MONDO_0003268 node EFO_0003095 non-alcoholic fatty liver disease null http://www.ebi.ac.uk/efo/EFO_0003095 node Orphanet_284979 Neonatal Marfan syndrome null http://www.orpha.net/ORDO/Orphanet_284979 node EFO_0010691 retroperitoneal infection null http://www.ebi.ac.uk/efo/EFO_0010691 node EFO_0001760 injury design null http://www.ebi.ac.uk/efo/EFO_0001760 node PO_0025223 vegetative shoot apex null http://purl.obolibrary.org/obo/PO_0025223 node EFO_1001775 cerebrospinal fluid otorrhea null http://www.ebi.ac.uk/efo/EFO_1001775 node HP_0000411 Protruding ear null http://purl.obolibrary.org/obo/HP_0000411 node NCBITaxon_410658 soil metagenome null http://purl.obolibrary.org/obo/NCBITaxon_410658 node EFO_1000296 High Grade Surface Osteosarcoma null http://www.ebi.ac.uk/efo/EFO_1000296 node CHEBI_3766 clozapine null http://purl.obolibrary.org/obo/CHEBI_3766 node CHEBI_64210 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid null http://purl.obolibrary.org/obo/CHEBI_64210 node EFO_1000777 vulva fibroepithelial polyp null http://www.ebi.ac.uk/efo/EFO_1000777 node EFO_0003799 interleukin-14 (Mus musculus) null http://www.ebi.ac.uk/efo/EFO_0003799 node EFO_0010393 sphingomyelin 18:0 measurement null http://www.ebi.ac.uk/efo/EFO_0010393 node EFO_0000248 alveolar rhabdomyosarcoma null http://www.ebi.ac.uk/efo/EFO_0000248 node EFO_0010874 HG03196 null http://www.ebi.ac.uk/efo/EFO_0010874 node EFO_0010669 lung pericyte cell Made as a placeholder for AE anatomagrams, term should be requested in CL. http://www.ebi.ac.uk/efo/EFO_0010669 node MONDO_0015760 T-cell non-Hodgkin lymphoma null http://purl.obolibrary.org/obo/MONDO_0015760 node Orphanet_139564 Hereditary sensory and autonomic neuropathy type 1B null http://www.orpha.net/ORDO/Orphanet_139564 node Orphanet_75234 Cholesteryl ester storage disease null http://www.orpha.net/ORDO/Orphanet_75234 node EFO_0005359 CAL851 null http://www.ebi.ac.uk/efo/EFO_0005359 node EFO_0006946 behavioural disinhibition measurement null http://www.ebi.ac.uk/efo/EFO_0006946 node NCBITaxon_9258 Ornithorhynchus anatinus null http://purl.obolibrary.org/obo/NCBITaxon_9258 node EFO_0002614 insulin resistance null http://www.ebi.ac.uk/efo/EFO_0002614 node CHEBI_35907 glutarate(1-) null http://purl.obolibrary.org/obo/CHEBI_35907 node EFO_0000469 environmental factor This should become a material entity with the role of environment http://www.ebi.ac.uk/efo/EFO_0000469 node EFO_1000384 Mixed Tumor of the Salivary Gland null http://www.ebi.ac.uk/efo/EFO_1000384 node EFO_1000179 Chronic Neutrophilic Leukemia null http://www.ebi.ac.uk/efo/EFO_1000179 node EFO_0010276 neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements null http://www.ebi.ac.uk/efo/EFO_0010276 node MONDO_0040732 Pseudomonas aeruginosa infectious disease null http://purl.obolibrary.org/obo/MONDO_0040732 node MONDO_0044995 parasympathetic nervous system disease null http://purl.obolibrary.org/obo/MONDO_0044995 node EFO_0004170 nucleic acid sequencing protocol null http://www.ebi.ac.uk/efo/EFO_0004170 node MONDO_0056804 benign neoplasm of peripheral nervous system null http://purl.obolibrary.org/obo/MONDO_0056804 node EFO_0000149 CS57867 null http://www.ebi.ac.uk/efo/EFO_0000149 node EFO_0000557 juvenile dermatomyositis null http://www.ebi.ac.uk/efo/EFO_0000557 node EFO_0004391 Theiler stage 27 null http://www.ebi.ac.uk/efo/EFO_0004391 node EFO_1001238 vitreous detachment null http://www.ebi.ac.uk/efo/EFO_1001238 node CL_0000876 splenic white pulp macrophage Markers: Mouse: F4/80-, CD68+, macrosialin+. http://purl.obolibrary.org/obo/CL_0000876 node EFO_0005668 anterior chamber depth measurement null http://www.ebi.ac.uk/efo/EFO_0005668 node CHEBI_35808 citrate(2-) null http://purl.obolibrary.org/obo/CHEBI_35808 node EFO_0010364 lysophosphatidylcholine 20:5 measurement null http://www.ebi.ac.uk/efo/EFO_0010364 node NCBITaxon_5503 Cochliobolus lunatus null http://purl.obolibrary.org/obo/NCBITaxon_5503 node MONDO_0000959 malignant hypertensive renal disease null http://purl.obolibrary.org/obo/MONDO_0000959 node MONDO_0021605 benign eyelid neoplasm null http://purl.obolibrary.org/obo/MONDO_0021605 node Orphanet_100050 Hereditary angioedema type 1 null http://www.orpha.net/ORDO/Orphanet_100050 node Orphanet_1194 Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency null http://www.orpha.net/ORDO/Orphanet_1194 node Orphanet_211037 Autosomal dominant proximal spinal muscular atrophy null http://www.orpha.net/ORDO/Orphanet_211037 node NCBITaxon_29760 Vitis vinifera null http://purl.obolibrary.org/obo/NCBITaxon_29760 node UBERON_2000309 external yolk syncytial layer null http://purl.obolibrary.org/obo/UBERON_2000309 node EFO_1001326 Flavivirus Infections null http://www.ebi.ac.uk/efo/EFO_1001326 node CL_0000964 Bm2' B cell Bm2' B cells are also reportedly CD10-positive, CD39-negative, CD44-negative, CD71-positive, CD77-negative, IgM-positive, IgG-negative, IgA-negative, and IgE-negative. http://purl.obolibrary.org/obo/CL_0000964 node MONDO_0030055 sorbitol dehydrogenase deficiency with peripheral neuropathy null http://purl.obolibrary.org/obo/MONDO_0030055 node HP_0008443 Spinal deformities null http://purl.obolibrary.org/obo/HP_0008443 node CL_0000777 mesangial phagocyte null http://purl.obolibrary.org/obo/CL_0000777 node NCBITaxon_364410 Granulibacter bethesdensis null http://purl.obolibrary.org/obo/NCBITaxon_364410 node Orphanet_261265 17q12 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261265 node EFO_0004114 obsolete_seq library selection flag null http://www.ebi.ac.uk/efo/EFO_0004114 node UBERON_0000956 cerebral cortex null http://purl.obolibrary.org/obo/UBERON_0000956 node CL_0002061 T-helper 9 cell null http://purl.obolibrary.org/obo/CL_0002061 node GO_0097332 response to antipsychotic drug null http://purl.obolibrary.org/obo/GO_0097332 node Orphanet_96173 Ring chromosome 9 null http://www.orpha.net/ORDO/Orphanet_96173 node EFO_0010002 RRMAB-seq null http://www.ebi.ac.uk/efo/EFO_0010002 node EFO_0007558 validation high content screen null http://www.ebi.ac.uk/efo/EFO_0007558 node EFO_0006330 response to buspirone null http://www.ebi.ac.uk/efo/EFO_0006330 node Orphanet_79097 Folinic acid-responsive seizures Editor note: TODO request from CHEBI http://www.orpha.net/ORDO/Orphanet_79097 node OBI_0600002 tumor grading null http://purl.obolibrary.org/obo/OBI_0600002 node EFO_0004015 duplication null http://www.ebi.ac.uk/efo/EFO_0004015 node NCBITaxon_4108 Solanum chacoense null http://purl.obolibrary.org/obo/NCBITaxon_4108 node GO_0043170 macromolecule metabolic process null http://purl.obolibrary.org/obo/GO_0043170 node EFO_0002696 assay by array null http://www.ebi.ac.uk/efo/EFO_0002696 node MONDO_0014791 Luscan-Lumish syndrome null http://purl.obolibrary.org/obo/MONDO_0014791 node Orphanet_95157 Acute hepatic porphyria null http://www.orpha.net/ORDO/Orphanet_95157 node EFO_0007646 amyloid plaque accumulation rate null http://www.ebi.ac.uk/efo/EFO_0007646 node Orphanet_79185 Disorder of ornithine or proline metabolism null http://www.orpha.net/ORDO/Orphanet_79185 node EFO_0007082 HUES45 null http://www.ebi.ac.uk/efo/EFO_0007082 node HP_0000376 Incomplete partition of the cochlea type II null http://purl.obolibrary.org/obo/HP_0000376 node EFO_0007459 pyruvate decarboxylase deficiency null http://www.ebi.ac.uk/efo/EFO_0007459 node HP_0100281 Chronic colitis null http://purl.obolibrary.org/obo/HP_0100281 node Orphanet_261236 16p13.11 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_261236 node Orphanet_199279 Familial angiolipomatosis null http://www.orpha.net/ORDO/Orphanet_199279 node NCBITaxon_375033 Synechococcus phage S-IO9 null http://purl.obolibrary.org/obo/NCBITaxon_375033 node CL_0002032 hematopoietic oligopotent progenitor cell This cell type is intended to be compatible with any vertebrate hematopoietic oligopotent progenitor cell. For mammalian hematopoietic oligopotent progenitor cells known to be lineage-negative, please use the term 'hematopoietic oligopotent progenitor cell' (CL_0001060). http://purl.obolibrary.org/obo/CL_0002032 node NCBITaxon_101269 Lilium hybrid division VII null http://purl.obolibrary.org/obo/NCBITaxon_101269 node MONDO_0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia null http://purl.obolibrary.org/obo/MONDO_0032930 node MONDO_0011118 bilineal acute myeloid leukemia null http://purl.obolibrary.org/obo/MONDO_0011118 node MONDO_0003241 central nervous system hemangioma null http://purl.obolibrary.org/obo/MONDO_0003241 node EFO_0005052 nervous system measurement null http://www.ebi.ac.uk/efo/EFO_0005052 node GO_1901293 nucleoside phosphate biosynthetic process null http://purl.obolibrary.org/obo/GO_1901293 node CHEBI_82931 4-vinylphenol sulfate null http://purl.obolibrary.org/obo/CHEBI_82931 node CHEBI_132917 2-isopropylmalate null http://purl.obolibrary.org/obo/CHEBI_132917 node EFO_0002803 TH-1 null http://www.ebi.ac.uk/efo/EFO_0002803 node EFO_0008673 CapSeq null http://www.ebi.ac.uk/efo/EFO_0008673 node CHEBI_153671 endothelin-1 null http://purl.obolibrary.org/obo/CHEBI_153671 node EFO_0007170 bird fancier's lung null http://www.ebi.ac.uk/efo/EFO_0007170 node CLO_0035254 AG06237 null http://purl.obolibrary.org/obo/CLO_0035254 node Orphanet_166277 Suarez-Stickler syndrome null http://www.orpha.net/ORDO/Orphanet_166277 node EFO_0008903 SC3-seq null http://www.ebi.ac.uk/efo/EFO_0008903 node EFO_1001794 fetomaternal transfusion null http://www.ebi.ac.uk/efo/EFO_1001794 node EFO_0006313 chemotherapy-induced oral mucositis null http://www.ebi.ac.uk/efo/EFO_0006313 node UBERON_0000087 inner cell mass null http://purl.obolibrary.org/obo/UBERON_0000087 node Orphanet_251365 Sickle cell - hemoglobin C disease null http://www.orpha.net/ORDO/Orphanet_251365 node Orphanet_2563 MOMO syndrome null http://www.orpha.net/ORDO/Orphanet_2563 node Orphanet_99858 Idiopathic syringomyelia null http://www.orpha.net/ORDO/Orphanet_99858 node Orphanet_99900 Long chain acyl-CoA dehydrogenase deficiency null http://www.orpha.net/ORDO/Orphanet_99900 node Orphanet_675 Annular pancreas null http://www.orpha.net/ORDO/Orphanet_675 node CHEBI_66850 phosphatidylcholine 32:0 null http://purl.obolibrary.org/obo/CHEBI_66850 node EFO_0000962 obsolete_skin null http://www.ebi.ac.uk/efo/EFO_0000962 node EFO_1000854 causalgia null http://www.ebi.ac.uk/efo/EFO_1000854 node HP_0003108 Hyperglycinuria Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours. http://purl.obolibrary.org/obo/HP_0003108 node Orphanet_98902 Amish nemaline myopathy null http://www.orpha.net/ORDO/Orphanet_98902 node EFO_0006401 G124 null http://www.ebi.ac.uk/efo/EFO_0006401 node MONDO_0016738 primary germ cell tumor of central nervous system null http://purl.obolibrary.org/obo/MONDO_0016738 node EFO_0004594 childhood eosinophilic esophagitis null http://www.ebi.ac.uk/efo/EFO_0004594 node Orphanet_99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 null http://www.orpha.net/ORDO/Orphanet_99946 node NCBITaxon_147452 Staphylococcus saprophyticus subsp. saprophyticus null http://purl.obolibrary.org/obo/NCBITaxon_147452 node EFO_0010084 anti-meningococcal C IgG measurement null http://www.ebi.ac.uk/efo/EFO_0010084 node EFO_0001153 GM12762 null http://www.ebi.ac.uk/efo/EFO_0001153 node GO_0016020 membrane null http://purl.obolibrary.org/obo/GO_0016020 node Orphanet_763 Pycnodysostosis null http://www.orpha.net/ORDO/Orphanet_763 node Orphanet_2464 Marfanoid syndrome, De Silva type null http://www.orpha.net/ORDO/Orphanet_2464 node MONDO_0015475 rare head and neck malformation null http://purl.obolibrary.org/obo/MONDO_0015475 node EFO_1001250 rotator cuff tear null http://www.ebi.ac.uk/efo/EFO_1001250 node EFO_1000942 fungal meningitis null http://www.ebi.ac.uk/efo/EFO_1000942 node EFO_0003964 hip fracture null http://www.ebi.ac.uk/efo/EFO_0003964 node Orphanet_1471 Coloboma of macula - brachydactyly type B null http://www.orpha.net/ORDO/Orphanet_1471 node CL_0000895 naive thymus-derived CD4-positive, alpha-beta T cell These cells have not been exposed to antigen following thymic T-cell selection; found in blood and secondary lymphoid organs. This cell type is compatible with the HIPC Lyoplate markers for 'naive CD4+ T cell', but includes additional markers known to be expressed on naive CD4+ T cells. http://purl.obolibrary.org/obo/CL_0000895 node EFO_0000413 dorsal apodeme specific anlage null http://www.ebi.ac.uk/efo/EFO_0000413 node EFO_1000075 Adrenal Gland Neuroblastoma null http://www.ebi.ac.uk/efo/EFO_1000075 node EFO_0004682 QT interval null http://www.ebi.ac.uk/efo/EFO_0004682 node EFO_0008019 alpha-1-antichymotrypsin measurement null http://www.ebi.ac.uk/efo/EFO_0008019 node EFO_0005524 large artery stroke Editor note: check this http://www.ebi.ac.uk/efo/EFO_0005524 node EFO_0003097 empyema null http://www.ebi.ac.uk/efo/EFO_0003097 node Orphanet_182083 Channelopathy with epilepsy null http://www.orpha.net/ORDO/Orphanet_182083 node GO_1903492 response to aspirin null http://purl.obolibrary.org/obo/GO_1903492 node EFO_0003578 obsolete_primary neuron hindbrain null http://www.ebi.ac.uk/efo/EFO_0003578 node UBERON_0001711 eyelid null http://purl.obolibrary.org/obo/UBERON_0001711 node EFO_0010172 DNA library construction null http://www.ebi.ac.uk/efo/EFO_0010172 node Orphanet_93269 Short rib-polydactyly syndrome, Majewski type null http://www.orpha.net/ORDO/Orphanet_93269 node NCBITaxon_212035 Acanthamoeba polyphaga mimivirus null http://purl.obolibrary.org/obo/NCBITaxon_212035 node Orphanet_851 Paris-Trousseau thrombocytopenia null http://www.orpha.net/ORDO/Orphanet_851 node HP_0001258 Spastic paraplegia This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies. http://purl.obolibrary.org/obo/HP_0001258 node Orphanet_93945 X-linked intellectual disability, Porteous type null http://www.orpha.net/ORDO/Orphanet_93945 node Orphanet_261337 Distal 22q11.2 microduplication syndrome null http://www.orpha.net/ORDO/Orphanet_261337 node Orphanet_1354 Heart defects - limb shortening null http://www.orpha.net/ORDO/Orphanet_1354 node CHEBI_6498 lipoxin A4 null http://purl.obolibrary.org/obo/CHEBI_6498 node CHEBI_32979 (S)-3-phenyllactate null http://purl.obolibrary.org/obo/CHEBI_32979 node CL_0000820 B-1a B cell null http://purl.obolibrary.org/obo/CL_0000820 node CLO_0031239 GM14417 null http://purl.obolibrary.org/obo/CLO_0031239 node EFO_0008107 death-associated protein kinase 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008107 node Orphanet_1752 Trisomy 8q null http://www.orpha.net/ORDO/Orphanet_1752 node EFO_0005612 morphine dependence null http://www.ebi.ac.uk/efo/EFO_0005612 node Orphanet_171829 6q16 deletion syndrome null http://www.orpha.net/ORDO/Orphanet_171829 node HANCESTRO_0013 Native American null http://purl.obolibrary.org/obo/HANCESTRO_0013 node CLO_0014397 GM17250 null http://purl.obolibrary.org/obo/CLO_0014397 node EFO_0003022 interferon alpha 2a null http://www.ebi.ac.uk/efo/EFO_0003022 node Orphanet_93357 SPONASTRIME dysplasia null http://www.orpha.net/ORDO/Orphanet_93357 node EFO_0005833 ML-DmD9 null http://www.ebi.ac.uk/efo/EFO_0005833 node EFO_0010453 adenosine measurement null http://www.ebi.ac.uk/efo/EFO_0010453 node NCBITaxon_5671 Leishmania infantum null http://purl.obolibrary.org/obo/NCBITaxon_5671 node NCBITaxon_446639 Trichophyton longifusum null http://purl.obolibrary.org/obo/NCBITaxon_446639 node CLO_0016560 GM17753 null http://purl.obolibrary.org/obo/CLO_0016560 node EFO_0007577 blood cobalt measurement null http://www.ebi.ac.uk/efo/EFO_0007577 node Orphanet_94083 Partington syndrome null http://www.orpha.net/ORDO/Orphanet_94083 node MONDO_0024892 soft tissue amyloid neoplasm null http://purl.obolibrary.org/obo/MONDO_0024892 node EFO_1000539 Small Intestinal Tubulovillous Adenoma null http://www.ebi.ac.uk/efo/EFO_1000539 node CL_0002466 small intestine serosal dendritic cell null http://purl.obolibrary.org/obo/CL_0002466 node MONDO_0020404 shone complex null http://purl.obolibrary.org/obo/MONDO_0020404 node EFO_0010636 pontocerebellar hypoplasia type 13 null http://www.ebi.ac.uk/efo/EFO_0010636 node EFO_0005921 FEV change measurement null http://www.ebi.ac.uk/efo/EFO_0005921 node EFO_0010541 trimethylamine-N-oxide measurement null http://www.ebi.ac.uk/efo/EFO_0010541 node MONDO_0001063 cardia cancer null http://purl.obolibrary.org/obo/MONDO_0001063 node EFO_0005231 ECC-1 null http://www.ebi.ac.uk/efo/EFO_0005231 node Orphanet_2968 Leukocyte adhesion deficiency null http://www.orpha.net/ORDO/Orphanet_2968 node Orphanet_261911 Partial deletion of the short arm of chromosome 7 null http://www.orpha.net/ORDO/Orphanet_261911 node HP_0006315 Single median maxillary incisor If a single maxillary central incisor is present but not positioned in the midline, this could be hypodontia, but this cannot be evaluated without a radiograph. http://purl.obolibrary.org/obo/HP_0006315 node CL_0002349 CD27-high, CD11b-low natural killer cell, mouse null http://purl.obolibrary.org/obo/CL_0002349 node EFO_0007900 retinol measurement null http://www.ebi.ac.uk/efo/EFO_0007900 node UBERON_2000482 caudal tuberal nucleus null http://purl.obolibrary.org/obo/UBERON_2000482 node EFO_0007723 carotid artery mean blood pressure measurement null http://www.ebi.ac.uk/efo/EFO_0007723 node EFO_0009446 asphyxia null http://www.ebi.ac.uk/efo/EFO_0009446 node CLO_0016449 GM17852 null http://purl.obolibrary.org/obo/CLO_0016449 node EFO_0006725 OVKATE null http://www.ebi.ac.uk/efo/EFO_0006725 node Orphanet_2148 Lissencephaly type 1 due to doublecortin gene mutation null http://www.orpha.net/ORDO/Orphanet_2148 node MONDO_0013555 Hermansky-Pudlak syndrome 3 null http://purl.obolibrary.org/obo/MONDO_0013555 node Orphanet_2869 Peutz-Jeghers syndrome null http://www.orpha.net/ORDO/Orphanet_2869 node EFO_0000893 obsolete_sympathetic nervous system null http://www.ebi.ac.uk/efo/EFO_0000893 node EFO_0007811 Plasmodium falciparum antigen IgG3 measurement null http://www.ebi.ac.uk/efo/EFO_0007811 node GO_0044429 mitochondrial part Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. http://purl.obolibrary.org/obo/GO_0044429 node EFO_0006332 serum iron measurement null http://www.ebi.ac.uk/efo/EFO_0006332 node Orphanet_85318 X-linked intellectual disability - precocious puberty - obesity null http://www.orpha.net/ORDO/Orphanet_85318 node MONDO_0030004 autism, susceptibility to, 20 null http://purl.obolibrary.org/obo/MONDO_0030004 node EFO_1001397 Piscirickettsiaceae Infections null http://www.ebi.ac.uk/efo/EFO_1001397 node Orphanet_247522 Primary ciliary dyskinesia - retinitis pigmentosa null http://www.orpha.net/ORDO/Orphanet_247522 node EFO_1001878 blood-injection-injury phobia null http://www.ebi.ac.uk/efo/EFO_1001878 node EFO_1002015 HPV-associated cervical carcinoma null http://www.ebi.ac.uk/efo/EFO_1002015 node Orphanet_79350 3-phosphoserine phosphatase deficiency null http://www.orpha.net/ORDO/Orphanet_79350 node EFO_0009291 E/A ratio null http://www.ebi.ac.uk/efo/EFO_0009291 node EFO_0000981 obsolete_ductus deferens null http://www.ebi.ac.uk/efo/EFO_0000981 node Orphanet_98695 Mitochondrial disease with eye involvement null http://www.orpha.net/ORDO/Orphanet_98695 node HP_0003127 Hypocalciuria null http://purl.obolibrary.org/obo/HP_0003127 node EFO_0001973 obsolete_olfactory system null http://www.ebi.ac.uk/efo/EFO_0001973 node NCBITaxon_10228 Trichoplax adhaerens null http://purl.obolibrary.org/obo/NCBITaxon_10228 node Orphanet_35688 Madelung deformity null http://www.orpha.net/ORDO/Orphanet_35688 node NCBITaxon_413497 Cronobacter dublinensis null http://purl.obolibrary.org/obo/NCBITaxon_413497 node EFO_1001485 acromegaly null http://www.ebi.ac.uk/efo/EFO_1001485 node EFO_0001786 secreted protein identification design null http://www.ebi.ac.uk/efo/EFO_0001786 node EFO_0004988 obsolete_embryoid body null http://www.ebi.ac.uk/efo/EFO_0004988 node MONDO_0001438 postinflammatory pulmonary fibrosis null http://purl.obolibrary.org/obo/MONDO_0001438 node MONDO_0032932 mitochondrial DNA depletion syndrome 18 null http://purl.obolibrary.org/obo/MONDO_0032932 node EFO_0003346 obsolete_visual anlage null http://www.ebi.ac.uk/efo/EFO_0003346 node Orphanet_3301 Tetraamelia - multiple malformations TODO split OMIM out http://www.orpha.net/ORDO/Orphanet_3301 node EFO_0009192 Drug- or toxin-induced pulmonary arterial hypertension null http://www.ebi.ac.uk/efo/EFO_0009192 node NCBITaxon_473156 Oscheius dolichura null http://purl.obolibrary.org/obo/NCBITaxon_473156 node Orphanet_317419 T-B- severe combined immunodeficiency null http://www.orpha.net/ORDO/Orphanet_317419 node EFO_0008675 CaptureSeq null http://www.ebi.ac.uk/efo/EFO_0008675 node NCBITaxon_31899 Caldicellulosiruptor bescii null http://purl.obolibrary.org/obo/NCBITaxon_31899 node MONDO_0003406 sleep-wake disorder null http://purl.obolibrary.org/obo/MONDO_0003406 node MONDO_0003219 gastroesophageal junction adenocarcinoma null http://purl.obolibrary.org/obo/MONDO_0003219 node EFO_0007031 SL null http://www.ebi.ac.uk/efo/EFO_0007031 node EO_0007222 UV light regimen null http://purl.obolibrary.org/obo/EO_0007222 node HP_0002275 Poor motor coordination null http://purl.obolibrary.org/obo/HP_0002275 node Orphanet_64747 X-linked Charcot-Marie-Tooth disease null http://www.orpha.net/ORDO/Orphanet_64747 node Orphanet_63261 HERNS syndrome null http://www.orpha.net/ORDO/Orphanet_63261 node EFO_0004383 nanogram per microliter null http://www.ebi.ac.uk/efo/EFO_0004383 node EFO_0003434 obsolete_pancreas primordium null http://www.ebi.ac.uk/efo/EFO_0003434 node CHEBI_64119 (S)-(-)-sulpiride null http://purl.obolibrary.org/obo/CHEBI_64119 node Orphanet_329329 Autosomal recessive frontotemporal pachygyria null http://www.orpha.net/ORDO/Orphanet_329329 node CHEBI_16646 carbohydrate null http://purl.obolibrary.org/obo/CHEBI_16646 node EFO_0004196 viral human hepatitis infection Editor note: consider adding term for viral http://www.ebi.ac.uk/efo/EFO_0004196 node EFO_0003842 obsolete_bone of lower extremity null http://www.ebi.ac.uk/efo/EFO_0003842 node EFO_0008099 complement factor I measurement null http://www.ebi.ac.uk/efo/EFO_0008099 node EFO_1000152 Cavernous Hemangioma of the Face null http://www.ebi.ac.uk/efo/EFO_1000152 node Orphanet_267 Autosomal recessive limb-girdle muscular dystrophy type 2A null http://www.orpha.net/ORDO/Orphanet_267 node EFO_1000633 adenomatous colon polyp null http://www.ebi.ac.uk/efo/EFO_1000633 node EFO_0003655 obsolete_ovarian follicle stage III null http://www.ebi.ac.uk/efo/EFO_0003655 node Orphanet_139515 Charcot-Marie-Tooth disease type 4J null http://www.orpha.net/ORDO/Orphanet_139515 node HP_0001522 Death in infancy null http://purl.obolibrary.org/obo/HP_0001522 node MONDO_0000105 anemia, nonspherocytic hemolytic null http://purl.obolibrary.org/obo/MONDO_0000105 node EFO_1001949 colon adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1001949 node EFO_0010730 response to bezlotoxumab null http://www.ebi.ac.uk/efo/EFO_0010730 node HP_0000408 Progressive sensorineural hearing impairment null http://purl.obolibrary.org/obo/HP_0000408 node MONDO_0060591 immunodeficiency, developmental delay, and hypohomocysteinemia null http://purl.obolibrary.org/obo/MONDO_0060591 node CHEBI_26158 phytohormone null http://purl.obolibrary.org/obo/CHEBI_26158 node Orphanet_398073 Prader-Willi-like syndrome null http://www.orpha.net/ORDO/Orphanet_398073 node Orphanet_284180 Xp22.13p22.2 duplication syndrome null http://www.orpha.net/ORDO/Orphanet_284180 node EFO_1000335 Lung Papilloma null http://www.ebi.ac.uk/efo/EFO_1000335 node CHEBI_16734 N-acetyl-D-tryptophan null http://purl.obolibrary.org/obo/CHEBI_16734 node EFO_0004284 upper aerodigestive tract neoplasm null http://www.ebi.ac.uk/efo/EFO_0004284 node EFO_0008187 interleukin 6 receptor subunit alpha measurement null http://www.ebi.ac.uk/efo/EFO_0008187 node NCBITaxon_529507 Proteus mirabilis HI4320 null http://purl.obolibrary.org/obo/NCBITaxon_529507 node CL_0000769 basophilic metamyelocyte null http://purl.obolibrary.org/obo/CL_0000769 node EFO_1000240 Endometrial Squamous Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000240 node EFO_0003743 clone end sequencing null http://www.ebi.ac.uk/efo/EFO_0003743 node EFO_0001330 obsolete_C57BL/6J null http://www.ebi.ac.uk/efo/EFO_0001330 node Orphanet_355 Gaucher disease null http://www.orpha.net/ORDO/Orphanet_355 node Orphanet_183731 Rare genetic gynecological and obstetrical diseases null http://www.orpha.net/ORDO/Orphanet_183731 node Orphanet_93449 Primary osteolysis null http://www.orpha.net/ORDO/Orphanet_93449 node CHEBI_35446 polychlorinated biphenyls null http://purl.obolibrary.org/obo/CHEBI_35446 node EFO_0000508 genetic disorder Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish. http://www.ebi.ac.uk/efo/EFO_0000508 node CHEBI_2365 (+)-abscisic acid null http://purl.obolibrary.org/obo/CHEBI_2365 node EFO_1000218 Digestive System Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000218 node MONDO_0019193 acquired generalized lipodystrophy null http://purl.obolibrary.org/obo/MONDO_0019193 node EFO_1000803 alcoholic neuropathy null http://www.ebi.ac.uk/efo/EFO_1000803 node CHEBI_43876 (S)-alpha-methyl-4-carboxyphenylglycine null http://purl.obolibrary.org/obo/CHEBI_43876 node Orphanet_97362 Bilateral renal hypoplasia null http://www.orpha.net/ORDO/Orphanet_97362 node Orphanet_226310 Peripheral hypothyroidism null http://www.orpha.net/ORDO/Orphanet_226310 node EFO_0010900 anti-polyomavirus 2 antibody measurement null http://www.ebi.ac.uk/efo/EFO_0010900 node EO_0007153 radiation quantity regimen null http://purl.obolibrary.org/obo/EO_0007153 node MONDO_0019487 epilepsy with myoclonic absences null http://purl.obolibrary.org/obo/MONDO_0019487 node MONDO_0060761 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum null http://purl.obolibrary.org/obo/MONDO_0060761 node MONDO_0021381 neoplasm of pericardium null http://purl.obolibrary.org/obo/MONDO_0021381 node EFO_1000306 Intraductal Breast Papilloma null http://www.ebi.ac.uk/efo/EFO_1000306 node MONDO_0018782 type 1 interferonopathy null http://purl.obolibrary.org/obo/MONDO_0018782 node Orphanet_98580 Palpebral tumor null http://www.orpha.net/ORDO/Orphanet_98580 node HP_0012864 Abnormal sperm morphology null http://purl.obolibrary.org/obo/HP_0012864 node EO_0007241 plant nutrient treatment null http://purl.obolibrary.org/obo/EO_0007241 node EFO_1000704 granuloma annulare null http://www.ebi.ac.uk/efo/EFO_1000704 node EFO_0000260 anterior endoderm anlage in statu nascendi null http://www.ebi.ac.uk/efo/EFO_0000260 node EFO_0007980 cerebral blood flow measurement null http://www.ebi.ac.uk/efo/EFO_0007980 node EFO_0004267 biliary liver cirrhosis null http://www.ebi.ac.uk/efo/EFO_0004267 node Orphanet_309526 Disorder of multiple glycosylation null http://www.orpha.net/ORDO/Orphanet_309526 node MONDO_0024537 Brown-Vialetto-van Laere syndrome 1 null http://purl.obolibrary.org/obo/MONDO_0024537 node Orphanet_86920 Dermatopathia pigmentosa reticularis null http://www.orpha.net/ORDO/Orphanet_86920 node CL_0002058 Gr1-low non-classical monocyte Markers are associated with mice. The Gr epitope is used to describe this cell type is found on both Ly6c and Ly6g. However, its the Ly6c that is considered the specific marker, and thus used in the cross-product. Also, this cell-type is sometimes described as being Gr1-negative. http://purl.obolibrary.org/obo/CL_0002058 node HP_0012262 Abnormal ciliary motility Ciliated epithelial cells bear approximately 200 motile (9 + 2) cilia that move with both intracellular and intercellular synchrony. The pattern of beat in 9 + 2 motile cilia occurs in a waveform having a forward effective stroke followed by a return stroke. The direction of stroke is a function of the directional orientation of the central microtubules. In addition to moving in synchrony, individual cilia in normal cells are very plastic and move fluidly, sometimes deforming briefly upon encountering resistance and/or particles being transported over the mucosal surface. Cilia are embedded in a watery periciliary fluid of low viscosity, which facilitates the rapid beat cycle to move the more viscous overlying layer of mucus. Ciliary beat frequency ranges from approximately 8-20 Hz under normal conditions but may be accelerated by exposure to irritants such as tobacco smoke. http://purl.obolibrary.org/obo/HP_0012262 node EFO_0007919 response to diclofenac null http://www.ebi.ac.uk/efo/EFO_0007919 node CHEBI_58994 (+)-catechin monohydrate null http://purl.obolibrary.org/obo/CHEBI_58994 node CHEBI_23888 drug null http://purl.obolibrary.org/obo/CHEBI_23888 node Orphanet_324535 Combined oxidative phosphorylation defect type 11 null http://www.orpha.net/ORDO/Orphanet_324535 node EFO_0008864 PMA null http://www.ebi.ac.uk/efo/EFO_0008864 node EFO_0006483 SCC-25 null http://www.ebi.ac.uk/efo/EFO_0006483 node UBERON_0006241 future spinal cord null http://purl.obolibrary.org/obo/UBERON_0006241 node EFO_0000161 CS57901 null http://www.ebi.ac.uk/efo/EFO_0000161 node Orphanet_209943 IRVAN syndrome null http://www.orpha.net/ORDO/Orphanet_209943 node Orphanet_77260 Gaucher disease type 2 null http://www.orpha.net/ORDO/Orphanet_77260 node MONDO_0024625 disorder of lacrimal gland null http://purl.obolibrary.org/obo/MONDO_0024625 node CL_0002526 CD14-positive dermal dendritic cell They are also CD11c-positive, CD40-positive, CD85j-positive (ILT-2), CD163-positive, CD205-positive (DEC205), CD207-negative (langerin), CD209-positive (DC-SIGN), CD274-positive (PD-L1), CD324-negative (E-cadherin), Factor XIIIa-positive, LOX-I-positive, CLEC6-positive, Dectin-1-positive, and DCIR-positive. Upon stimulation, these cells are capable of producing IL1-beta, IL6, IL8, IL10, IL12p40, IL19, IL20, IL24, TGF-beta, TNF-alpha, GM-CSF, and MCP1. They reside in the dermis. http://purl.obolibrary.org/obo/CL_0002526 node EFO_0009696 social deprivation null http://www.ebi.ac.uk/efo/EFO_0009696 node UBERON_0001882 nucleus accumbens null http://purl.obolibrary.org/obo/UBERON_0001882 node EFO_0008747 FRISCR null http://www.ebi.ac.uk/efo/EFO_0008747 node FBbt_00005745 embryonic dorsal apodeme null http://purl.obolibrary.org/obo/FBbt_00005745 node EFO_0001256 obsolete_U87 null http://www.ebi.ac.uk/efo/EFO_0001256 node EFO_0008968 Term-Seq null http://www.ebi.ac.uk/efo/EFO_0008968 node EFO_0000672 prognostic subgroup null http://www.ebi.ac.uk/efo/EFO_0000672 node EFO_0001664 obsolete_foreskin null http://www.ebi.ac.uk/efo/EFO_0001664 node Orphanet_79224 Disorder of purine or pyrimidine metabolism null http://www.orpha.net/ORDO/Orphanet_79224 node EFO_1000885 cutaneous fibrous histiocytoma null http://www.ebi.ac.uk/efo/EFO_1000885 node MONDO_0002233 enamel caries null http://purl.obolibrary.org/obo/MONDO_0002233 node UBERON_0007795 ascitic fluid null http://purl.obolibrary.org/obo/UBERON_0007795 node Orphanet_34528 Autosomal dominant primary hypomagnesemia with hypocalciuria null http://www.orpha.net/ORDO/Orphanet_34528 node UBERON_0001970 bile null http://purl.obolibrary.org/obo/UBERON_0001970 node EFO_0009784 central serous retinopathy null http://www.ebi.ac.uk/efo/EFO_0009784 node EFO_1000698 facial dermatosis null http://www.ebi.ac.uk/efo/EFO_1000698 node HP_0005469 Flat occiput Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back. Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone. http://purl.obolibrary.org/obo/HP_0005469 node EFO_0006427 HCC1493 null http://www.ebi.ac.uk/efo/EFO_0006427 node EFO_0009597 feeling nervous measurement null http://www.ebi.ac.uk/efo/EFO_0009597 node CL_0001000 CD8_alpha-positive CD11b-negative dendritic cell Cells are defined as having a disposition to secreting inflammatory cytokines. Originally described in the dendritic cell ontology (DC_CL:0000013)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001000 node MONDO_0001539 retinal perforation null http://purl.obolibrary.org/obo/MONDO_0001539 node NCBITaxon_1612 Lactobacillus farciminis null http://purl.obolibrary.org/obo/NCBITaxon_1612 node MONDO_0029140 glycosylphosphatidylinositol biosynthesis defect 18 null http://purl.obolibrary.org/obo/MONDO_0029140 node MONDO_0030006 combined oxidative phosphorylation deficiency 40 null http://purl.obolibrary.org/obo/MONDO_0030006 node Orphanet_314795 SHOX-related short stature null http://www.orpha.net/ORDO/Orphanet_314795 node NCBITaxon_3335 Picea mariana null http://purl.obolibrary.org/obo/NCBITaxon_3335 node HP_0004326 Cachexia null http://purl.obolibrary.org/obo/HP_0004326 node CHEBI_87248 ethyl glucuronide null http://purl.obolibrary.org/obo/CHEBI_87248 node EFO_0009413 CCL15 measurement null http://www.ebi.ac.uk/efo/EFO_0009413 node EFO_0009208 Hemoglobin A Measurement null http://www.ebi.ac.uk/efo/EFO_0009208 node Orphanet_79107 Developmental malformations - deafness - dystonia null http://www.orpha.net/ORDO/Orphanet_79107 node MONDO_0002321 sensory peripheral neuropathy null http://purl.obolibrary.org/obo/MONDO_0002321 node CHEBI_50629 cyclooxygenase 2 inhibitor null http://purl.obolibrary.org/obo/CHEBI_50629 node EFO_1000786 osteoarthritis, hip null http://www.ebi.ac.uk/efo/EFO_1000786 node MONDO_0020673 arterial occlusion null http://purl.obolibrary.org/obo/MONDO_0020673 node Orphanet_79328 ALG9-CDG null http://www.orpha.net/ORDO/Orphanet_79328 node Orphanet_268145 Classic maple syrup urine disease null http://www.orpha.net/ORDO/Orphanet_268145 node MONDO_0002542 spinal cord glioma null http://purl.obolibrary.org/obo/MONDO_0002542 node EFO_0009014 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia null http://www.ebi.ac.uk/efo/EFO_0009014 node EFO_1001346 Hepatopulmonary Syndrome null http://www.ebi.ac.uk/efo/EFO_1001346 node EFO_1001827 post-concussion syndrome null http://www.ebi.ac.uk/efo/EFO_1001827 node HP_0004209 Clinodactyly of the 5th finger Minor degrees of curvature of the small finger are so common as to be considered normal. http://purl.obolibrary.org/obo/HP_0004209 node Orphanet_171695 Parkinsonian-pyramidal syndrome null http://www.orpha.net/ORDO/Orphanet_171695 node Orphanet_93349 X-linked spondyloepimetaphyseal dysplasia null http://www.orpha.net/ORDO/Orphanet_93349 node EFO_0000959 obsolete_pharyngeal arch null http://www.ebi.ac.uk/efo/EFO_0000959 node EFO_0007502 subacute sclerosing panencephalitis null http://www.ebi.ac.uk/efo/EFO_0007502 node EFO_0010445 cocaine use disorder null http://www.ebi.ac.uk/efo/EFO_0010445 node CHEBI_16811 methionine null http://purl.obolibrary.org/obo/CHEBI_16811 node NCBITaxon_28035 Staphylococcus lugdunensis null http://purl.obolibrary.org/obo/NCBITaxon_28035 node EFO_0008264 platelet-derived growth factor BB measurement null http://www.ebi.ac.uk/efo/EFO_0008264 node Orphanet_261766 Partial deletion of chromosome 1 null http://www.orpha.net/ORDO/Orphanet_261766 node MONDO_0020761 Bowen disease of the skin null http://purl.obolibrary.org/obo/MONDO_0020761 node MONDO_0003408 ovarian primitive germ cell tumor null http://purl.obolibrary.org/obo/MONDO_0003408 node Orphanet_90308 Klippel-Trénaunay syndrome null http://www.orpha.net/ORDO/Orphanet_90308 node UBERON_0007123 pharyngeal pouch 2 null http://purl.obolibrary.org/obo/UBERON_0007123 node MONDO_0002630 small cell osteogenic sarcoma null http://purl.obolibrary.org/obo/MONDO_0002630 node Orphanet_1832 Lethal osteosclerotic bone dysplasia null http://www.orpha.net/ORDO/Orphanet_1832 node EFO_0009102 number of children ever born measurement null http://www.ebi.ac.uk/efo/EFO_0009102 node Orphanet_363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia null http://www.orpha.net/ORDO/Orphanet_363972 node EFO_1001434 Tendinopathy null http://www.ebi.ac.uk/efo/EFO_1001434 node Orphanet_397959 TCR-alpha-beta-positive T-cell deficiency null http://www.orpha.net/ORDO/Orphanet_397959 node EFO_0005864 embryonic stage 5 Temporal ordering number - 210. http://www.ebi.ac.uk/efo/EFO_0005864 node EFO_0004937 T0 stage null http://www.ebi.ac.uk/efo/EFO_0004937 node Orphanet_300298 Severe congenital hypochromic anemia with ringed sideroblasts null http://www.orpha.net/ORDO/Orphanet_300298 node EFO_1001247 chancre null http://www.ebi.ac.uk/efo/EFO_1001247 node EFO_1001176 sensorineural hearing loss null http://www.ebi.ac.uk/efo/EFO_1001176 node PO_0007079 SE.00 stem elongation begins stage A measure of vegetative growth, but leaf production is to be preferred. http://purl.obolibrary.org/obo/PO_0007079 node EFO_0004385 picogram per milliliter null http://www.ebi.ac.uk/efo/EFO_0004385 node MONDO_0004782 diabetes insipidus null http://purl.obolibrary.org/obo/MONDO_0004782 node NCBITaxon_66269 Pantoea stewartii null http://purl.obolibrary.org/obo/NCBITaxon_66269 node MONDO_0015514 genetic endocrine growth disease null http://purl.obolibrary.org/obo/MONDO_0015514 node EFO_0005677 puberty onset measurement null http://www.ebi.ac.uk/efo/EFO_0005677 node EFO_0008352 C9orf72 mutation status null http://www.ebi.ac.uk/efo/EFO_0008352 node HP_0002617 Vascular dilatation Aneurysm is considered a severe form of dilatation. http://purl.obolibrary.org/obo/HP_0002617 node EFO_0002956 musculo-skeletal system cell null http://www.ebi.ac.uk/efo/EFO_0002956 node CL_0000453 Langerhans cell Originally described in the dendritic cell ontology (DC_CL:0000021 )(PMID:19243617). These cells are also CD1a-high, CD14-negative, CD207-positive (langerin), CD324-positive (E-cadherin), and DCIR-positive. They reside in the epidermis. http://purl.obolibrary.org/obo/CL_0000453 node EFO_0004198 skin neoplasm null http://www.ebi.ac.uk/efo/EFO_0004198 node CL_0000934 CD4-positive, alpha-beta cytotoxic T cell null http://purl.obolibrary.org/obo/CL_0000934 node EFO_0004679 obsolete_response to glucocorticoid null http://www.ebi.ac.uk/efo/EFO_0004679 node EFO_0009629 event null http://www.ebi.ac.uk/efo/EFO_0009629 node NCBITaxon_39099 Pantherophis obsoletus null http://purl.obolibrary.org/obo/NCBITaxon_39099 node EFO_0003108 essential tremor null http://www.ebi.ac.uk/efo/EFO_0003108 node MONDO_0044727 pancreatic carcinoma with mixed differentiation null http://purl.obolibrary.org/obo/MONDO_0044727 node EFO_0008440 tag based single cell RNA sequencing null http://www.ebi.ac.uk/efo/EFO_0008440 node EFO_0004286 venous thromboembolism null http://www.ebi.ac.uk/efo/EFO_0004286 node Orphanet_90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency null http://www.orpha.net/ORDO/Orphanet_90793 node EFO_0006686 NCI-H28 null http://www.ebi.ac.uk/efo/EFO_0006686 node MONDO_0020705 neural tube defects, susceptibility to null http://purl.obolibrary.org/obo/MONDO_0020705 node EFO_0004123 obsolete_acrocephalosyndactylia null http://www.ebi.ac.uk/efo/EFO_0004123 node GO_0006915 apoptotic process null http://purl.obolibrary.org/obo/GO_0006915 node EFO_0003019 ILSXISS46/TejJ null http://www.ebi.ac.uk/efo/EFO_0003019 node EFO_0003604 obsolete_mesenchyme pectoral fin null http://www.ebi.ac.uk/efo/EFO_0003604 node MONDO_0036696 spleen neoplasm null http://purl.obolibrary.org/obo/MONDO_0036696 node CHEBI_53110 4,5-dianilinophthalimide null http://purl.obolibrary.org/obo/CHEBI_53110 node Orphanet_98599 Eyebrow/eyelashes structural anomaly null http://www.orpha.net/ORDO/Orphanet_98599 node CL_0002322 embryonic stem cell This is an in vitro cell type and may be removed in future releases. These cells are reportedly SSEA-4-positive, CD73-negative, and CD324-positive. http://purl.obolibrary.org/obo/CL_0002322 node Orphanet_18 Distal renal tubular acidosis null http://www.orpha.net/ORDO/Orphanet_18 node CHEBI_60151 oxidised LDL null http://purl.obolibrary.org/obo/CHEBI_60151 node EFO_0006569 EFM-192B null http://www.ebi.ac.uk/efo/EFO_0006569 node EFO_0004211 Hypertriglyceridemia null http://www.ebi.ac.uk/efo/EFO_0004211 node MONDO_0037256 serous neoplasm null http://purl.obolibrary.org/obo/MONDO_0037256 node EFO_0006977 Kaunas ecotype null http://www.ebi.ac.uk/efo/EFO_0006977 node MONDO_0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities null http://purl.obolibrary.org/obo/MONDO_0060763 node NCBITaxon_67593 Phytophthora sojae null http://purl.obolibrary.org/obo/NCBITaxon_67593 node MONDO_0018374 secondary avascular necrosis null http://purl.obolibrary.org/obo/MONDO_0018374 node EFO_0004432 454 GS FLX sequencer null http://www.ebi.ac.uk/efo/EFO_0004432 node EFO_0003505 obsolete_bulbus arteriosus null http://www.ebi.ac.uk/efo/EFO_0003505 node NCBITaxon_158543 Aristolochia fimbriata null http://purl.obolibrary.org/obo/NCBITaxon_158543 node CL_0002410 pancreatic stellate cell null http://purl.obolibrary.org/obo/CL_0002410 node CHEBI_18212 selenite(2-) null http://purl.obolibrary.org/obo/CHEBI_18212 node Orphanet_54370 Primary membranoproliferative glomerulonephritis null http://www.orpha.net/ORDO/Orphanet_54370 node Orphanet_183422 Polymalformative genetic syndrome with increased risk of developing cancer null http://www.orpha.net/ORDO/Orphanet_183422 node EFO_0009963 bipolar I disorder null http://www.ebi.ac.uk/efo/EFO_0009963 node HP_0040064 Abnormality of limbs null http://purl.obolibrary.org/obo/HP_0040064 node MONDO_0008315 prostate cancer null http://purl.obolibrary.org/obo/MONDO_0008315 node MONDO_0021114 Bartholin gland neoplasm null http://purl.obolibrary.org/obo/MONDO_0021114 node EFO_0007982 mild neurocognitive disorder null http://www.ebi.ac.uk/efo/EFO_0007982 node EFO_0005061 substrate null http://www.ebi.ac.uk/efo/EFO_0005061 node HP_0000842 Hyperinsulinemia null http://purl.obolibrary.org/obo/HP_0000842 node EFO_0007235 Dictyocaulus infectious disease null http://www.ebi.ac.uk/efo/EFO_0007235 node MONDO_0000070 mycobacterium tuberculosis, susceptibility null http://purl.obolibrary.org/obo/MONDO_0000070 node MONDO_0000551 retroperitoneal neuroblastoma null http://purl.obolibrary.org/obo/MONDO_0000551 node Orphanet_98986 Coppock-like cataract null http://www.orpha.net/ORDO/Orphanet_98986 node EFO_0006485 SCC-9 null http://www.ebi.ac.uk/efo/EFO_0006485 node NCBITaxon_10662 Myoviridae null http://purl.obolibrary.org/obo/NCBITaxon_10662 node MONDO_0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 null http://purl.obolibrary.org/obo/MONDO_0014450 node EFO_0003598 obsolete_slow muscle cell somite 1 null http://www.ebi.ac.uk/efo/EFO_0003598 node MONDO_0024627 phagocytic cell dysfunction null http://purl.obolibrary.org/obo/MONDO_0024627 node MONDO_0014263 8q24.3 microdeletion syndrome null http://purl.obolibrary.org/obo/MONDO_0014263 node EFO_0007118 sitting height ratio null http://www.ebi.ac.uk/efo/EFO_0007118 node EFO_0001924 obsolete_flower bud null http://www.ebi.ac.uk/efo/EFO_0001924 node NCBITaxon_8355 Xenopus laevis null http://purl.obolibrary.org/obo/NCBITaxon_8355 node EFO_0009288 posterior wall thickness null http://www.ebi.ac.uk/efo/EFO_0009288 node NCBITaxon_8260 Platichthys flesus null http://purl.obolibrary.org/obo/NCBITaxon_8260 node EFO_0010315 medial orbital frontal cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010315 node CL_0002007 Kit-low, CD34-positive eosinophil progenitor cell Markers are found on mouse cells. http://purl.obolibrary.org/obo/CL_0002007 node GO_0044271 cellular nitrogen compound biosynthetic process null http://purl.obolibrary.org/obo/GO_0044271 node MONDO_0004784 allergic asthma null http://purl.obolibrary.org/obo/MONDO_0004784 node Orphanet_85203 Acro-pectoral syndrome null http://www.orpha.net/ORDO/Orphanet_85203 node EFO_0009698 gestational blood glucose measurement null http://www.ebi.ac.uk/efo/EFO_0009698 node Orphanet_98911 Distal myotilinopathy null http://www.orpha.net/ORDO/Orphanet_98911 node EFO_1000183 Colon Dysplasia Editor notes: not in NCIT neoplas subset http://www.ebi.ac.uk/efo/EFO_1000183 node CHEBI_20000 3-dehydroteasterone null http://purl.obolibrary.org/obo/CHEBI_20000 node EFO_0003686 obsolete_hyosymplectic cartilage null http://www.ebi.ac.uk/efo/EFO_0003686 node EFO_0002759 methylation profiling by array null http://www.ebi.ac.uk/efo/EFO_0002759 node CHEBI_23098 chiro-inositol null http://purl.obolibrary.org/obo/CHEBI_23098 node EFO_0003499 obsolete_otic lateral line neuromast null http://www.ebi.ac.uk/efo/EFO_0003499 node EFO_0008531 GLP-1-stimulated insulin response null http://www.ebi.ac.uk/efo/EFO_0008531 node Orphanet_71 Chylomicron retention disease null http://www.orpha.net/ORDO/Orphanet_71 node Orphanet_568 Microphthalmia, Lenz type Editors note: TODO check http://www.orpha.net/ORDO/Orphanet_568 node EFO_0009599 feeling emotionally hurt measurement null http://www.ebi.ac.uk/efo/EFO_0009599 node EFO_1000084 Angioleiomyoma null http://www.ebi.ac.uk/efo/EFO_1000084 node EFO_0008160 insulin receptor measurement null http://www.ebi.ac.uk/efo/EFO_0008160 node MONDO_0044744 prekallikrein deficiency null http://purl.obolibrary.org/obo/MONDO_0044744 node NCBITaxon_430498 Dactylellina haptotyla null http://purl.obolibrary.org/obo/NCBITaxon_430498 node Orphanet_175 Cartilage-hair hypoplasia null http://www.orpha.net/ORDO/Orphanet_175 node MONDO_0021196 disease by molecular activity disrupted null http://purl.obolibrary.org/obo/MONDO_0021196 node Orphanet_656 Familial idiopathic steroid-resistant nephrotic syndrome null http://www.orpha.net/ORDO/Orphanet_656 node EFO_0001426 study design null http://www.ebi.ac.uk/efo/EFO_0001426 node EFO_0009706 latent autoimmune diabetes in adults null http://www.ebi.ac.uk/efo/EFO_0009706 node NCBITaxon_3486 Humulus lupulus null http://purl.obolibrary.org/obo/NCBITaxon_3486 node EFO_0009016 Ataxia-oculomotor apraxia type 4 null http://www.ebi.ac.uk/efo/EFO_0009016 node EFO_0008043 C-C motif chemokine 15 measurement null http://www.ebi.ac.uk/efo/EFO_0008043 node Orphanet_139027 Malformation syndrome with skin/mucosae involvement null http://www.orpha.net/ORDO/Orphanet_139027 node CL_0000625 CD8-positive, alpha-beta T cell null http://purl.obolibrary.org/obo/CL_0000625 node NCBITaxon_5791 Physarum polycephalum null http://purl.obolibrary.org/obo/NCBITaxon_5791 node EFO_1000570 Testicular Non-Seminomatous Germ Cell Tumor null http://www.ebi.ac.uk/efo/EFO_1000570 node UBERON_0014371 future telencephalon paired anteriolateral division of the embryonic prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived[MP] http://purl.obolibrary.org/obo/UBERON_0014371 node EFO_0002033 Ara-C-sensitive parental cell line null http://www.ebi.ac.uk/efo/EFO_0002033 node CHEBI_28694 copper null http://purl.obolibrary.org/obo/CHEBI_28694 node EFO_0006950 response to vincristine null http://www.ebi.ac.uk/efo/EFO_0006950 node EFO_1000917 endocrine tuberculosis null http://www.ebi.ac.uk/efo/EFO_1000917 node MONDO_0003173 brain stem astrocytic neoplasm null http://purl.obolibrary.org/obo/MONDO_0003173 node HP_0011968 Feeding difficulties null http://purl.obolibrary.org/obo/HP_0011968 node Orphanet_100 Ataxia-telangiectasia null http://www.orpha.net/ORDO/Orphanet_100 node Orphanet_85197 Genochondromatosis type 1 null http://www.orpha.net/ORDO/Orphanet_85197 node Orphanet_402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly null http://www.orpha.net/ORDO/Orphanet_402364 node EFO_0009104 hyperuricemia null http://www.ebi.ac.uk/efo/EFO_0009104 node EFO_0002254 NCI-H1437 null http://www.ebi.ac.uk/efo/EFO_0002254 node EFO_0001327 A/J null http://www.ebi.ac.uk/efo/EFO_0001327 node MONDO_0021682 viral sexually transmitted disease null http://purl.obolibrary.org/obo/MONDO_0021682 node HP_0000121 Nephrocalcinosis Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content. http://purl.obolibrary.org/obo/HP_0000121 node EFO_0000767 idiopathic cardiomyopathy null http://www.ebi.ac.uk/efo/EFO_0000767 node CL_0000232 erythrocyte null http://purl.obolibrary.org/obo/CL_0000232 node Orphanet_1031 Amelogenesis imperfecta - nephrocalcinosis null http://www.orpha.net/ORDO/Orphanet_1031 node MONDO_0100089 GATA1-Related X-Linked Cytopenia null http://purl.obolibrary.org/obo/MONDO_0100089 node EFO_0006851 malignant null http://www.ebi.ac.uk/efo/EFO_0006851 node NCBITaxon_72740 Sporisorium reilianum f. sp. zeae null http://purl.obolibrary.org/obo/NCBITaxon_72740 node BFO_0000040 material entity null http://purl.obolibrary.org/obo/BFO_0000040 node Orphanet_85285 X-linked intellectual disability, Schimke type null http://www.orpha.net/ORDO/Orphanet_85285 node EFO_0002342 SNB19 null http://www.ebi.ac.uk/efo/EFO_0002342 node EFO_0000374 obsolete_conjunctiva structure null http://www.ebi.ac.uk/efo/EFO_0000374 node HP_0000022 Abnormality of male internal genitalia The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. http://purl.obolibrary.org/obo/HP_0000022 node CHEBI_38940 sunitinib null http://purl.obolibrary.org/obo/CHEBI_38940 node CHEBI_3962 curcumin null http://purl.obolibrary.org/obo/CHEBI_3962 node Orphanet_90970 Primary lipodystrophy null http://www.orpha.net/ORDO/Orphanet_90970 node MONDO_0018779 hypercontractile muscle stiffness syndrome null http://purl.obolibrary.org/obo/MONDO_0018779 node NCBITaxon_9046 Lophura nycthemera null http://purl.obolibrary.org/obo/NCBITaxon_9046 node Orphanet_85168 Craniofacial conodysplasia null http://www.orpha.net/ORDO/Orphanet_85168 node CHEBI_21626 N-acetylphenylalanine null http://purl.obolibrary.org/obo/CHEBI_21626 node EFO_0005555 gamma chain deficiency null http://www.ebi.ac.uk/efo/EFO_0005555 node EFO_0004628 insulin like growth factor measurement null http://www.ebi.ac.uk/efo/EFO_0004628 node EFO_0000257 obsolete_antennal primordium null http://www.ebi.ac.uk/efo/EFO_0000257 node EFO_0010883 HG03460 null http://www.ebi.ac.uk/efo/EFO_0010883 node Orphanet_1159 Progressive pseudorheumatoid arthropathy of childhood null http://www.orpha.net/ORDO/Orphanet_1159 node UBERON_0007282 presumptive segmental plate null http://purl.obolibrary.org/obo/UBERON_0007282 node EFO_0005368 HFL1 null http://www.ebi.ac.uk/efo/EFO_0005368 node EFO_0010118 sphingomyelin measurement null http://www.ebi.ac.uk/efo/EFO_0010118 node Orphanet_86917 Lymphedema - cleft palate null http://www.orpha.net/ORDO/Orphanet_86917 node EFO_0008720 DroNc-seq null http://www.ebi.ac.uk/efo/EFO_0008720 node EFO_0007771 pathologic complete response measurement null http://www.ebi.ac.uk/efo/EFO_0007771 node Orphanet_168552 Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism null http://www.orpha.net/ORDO/Orphanet_168552 node UBERON_2000212 granular eminence null http://purl.obolibrary.org/obo/UBERON_2000212 node EFO_0000345 obsolete_circular visceral muscle fibers null http://www.ebi.ac.uk/efo/EFO_0000345 node EO_0007270 continuous dark (no light) regimen null http://purl.obolibrary.org/obo/EO_0007270 node EFO_1001026 lymphangioendothelioma null http://www.ebi.ac.uk/efo/EFO_1001026 node MONDO_0019601 autosomal recessive axonal hereditary motor and sensory neuropathy null http://purl.obolibrary.org/obo/MONDO_0019601 node EFO_0005456 SHEP-2 null http://www.ebi.ac.uk/efo/EFO_0005456 node MONDO_0011173 thrombocythemia 2 null http://purl.obolibrary.org/obo/MONDO_0011173 node EFO_0007198 central nervous system AIDS arteritis null http://www.ebi.ac.uk/efo/EFO_0007198 node EFO_0001982 obsolete_presomitic mesoderm null http://www.ebi.ac.uk/efo/EFO_0001982 node MONDO_0018235 dysostosis with limb anomaly as a major feature null http://purl.obolibrary.org/obo/MONDO_0018235 node HP_0001999 Abnormal facial shape This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. http://purl.obolibrary.org/obo/HP_0001999 node HP_0012317 Sacroiliac arthritis null http://purl.obolibrary.org/obo/HP_0012317 node EFO_1000999 joint disease null http://www.ebi.ac.uk/efo/EFO_1000999 node HP_0001385 Hip dysplasia null http://purl.obolibrary.org/obo/HP_0001385 node EFO_0008468 midregional pro atrial natriuretic peptide measurement null http://www.ebi.ac.uk/efo/EFO_0008468 node MONDO_0024491 tumor grade 1, general grading system null http://purl.obolibrary.org/obo/MONDO_0024491 node MONDO_0024286 benign blood vessel neoplasm null http://purl.obolibrary.org/obo/MONDO_0024286 node MONDO_0032892 structural brain anomalies with impaired intellectual development and craniosynostosis null http://purl.obolibrary.org/obo/MONDO_0032892 node UBERON_0000317 colonic mucosa null http://purl.obolibrary.org/obo/UBERON_0000317 node MONDO_0001806 vaginal squamous tumor null http://purl.obolibrary.org/obo/MONDO_0001806 node Orphanet_157941 Huntington disease-like 1 null http://www.orpha.net/ORDO/Orphanet_157941 node MONDO_0023224 inherited reflex epilepsy null http://purl.obolibrary.org/obo/MONDO_0023224 node UO_0000034 week null http://purl.obolibrary.org/obo/UO_0000034 node Orphanet_158681 Epidermolysis bullosa simplex with circinate migratory erythema null http://www.orpha.net/ORDO/Orphanet_158681 node Orphanet_79408 Severe generalized recessive dystrophic epidermolysis bullosa null http://www.orpha.net/ORDO/Orphanet_79408 node EFO_0007715 Platyhelminthes adult null http://www.ebi.ac.uk/efo/EFO_0007715 node Orphanet_424 Familial hyperthyroidism due to mutations in TSH receptor null http://www.orpha.net/ORDO/Orphanet_424 node EFO_0007528 tuberculous empyema null http://www.ebi.ac.uk/efo/EFO_0007528 node CHEBI_63949 2,3-bis(4-hydroxyphenyl)propionitrile null http://purl.obolibrary.org/obo/CHEBI_63949 node Orphanet_2533 Microcephaly - deafness - intellectual disability null http://www.orpha.net/ORDO/Orphanet_2533 node EFO_0001703 derived mass unit null http://www.ebi.ac.uk/efo/EFO_0001703 node CL_0002101 CD38-positive naive B cell null http://purl.obolibrary.org/obo/CL_0002101 node MONDO_0008162 otitis media, susceptibility to null http://purl.obolibrary.org/obo/MONDO_0008162 node EFO_0003851 meningeal neoplasm null http://www.ebi.ac.uk/efo/EFO_0003851 node MONDO_0029137 deafness, autosomal dominant 74 null http://purl.obolibrary.org/obo/MONDO_0029137 node CHEBI_15343 acetaldehyde null http://purl.obolibrary.org/obo/CHEBI_15343 node MONDO_0004587 hereditary night blindness null http://purl.obolibrary.org/obo/MONDO_0004587 node MONDO_0019817 congenital mitral valve insufficiency and/or stenosis null http://purl.obolibrary.org/obo/MONDO_0019817 node Orphanet_391799 Rare genetic dystonia null http://www.orpha.net/ORDO/Orphanet_391799 node Orphanet_512 Metachromatic leukodystrophy null http://www.orpha.net/ORDO/Orphanet_512 node Orphanet_139507 African iron overload null http://www.orpha.net/ORDO/Orphanet_139507 node Orphanet_920 Ablepharon macrostomia syndrome null http://www.orpha.net/ORDO/Orphanet_920 node Orphanet_2621 Low birth weight - dwarfism - dysgammaglobulinemia null http://www.orpha.net/ORDO/Orphanet_2621 node UBERON_0000006 islet of Langerhans null http://purl.obolibrary.org/obo/UBERON_0000006 node EFO_0007616 hearing measurement null http://www.ebi.ac.uk/efo/EFO_0007616 node MONDO_0032907 lymphatic malformation 8 null http://purl.obolibrary.org/obo/MONDO_0032907 node NCBITaxon_1396 Bacillus cereus null http://purl.obolibrary.org/obo/NCBITaxon_1396 node Orphanet_2919 Orofaciodigital syndrome type 5 null http://www.orpha.net/ORDO/Orphanet_2919 node Orphanet_733 Familial adenomatous polyposis null http://www.orpha.net/ORDO/Orphanet_733 node Orphanet_1897 EEM syndrome null http://www.orpha.net/ORDO/Orphanet_1897 node GO_0009537 proplastid null http://purl.obolibrary.org/obo/GO_0009537 node EFO_0007000 Gleason score measurement null http://www.ebi.ac.uk/efo/EFO_0007000 node Orphanet_98758 Spinocerebellar ataxia type 6 null http://www.orpha.net/ORDO/Orphanet_98758 node PO_0006081 primary root apical meristem null http://purl.obolibrary.org/obo/PO_0006081 node EFO_0009096 negative domain measurement null http://www.ebi.ac.uk/efo/EFO_0009096 node EFO_0010598 platelet endothelial cell adhesion molecule measurement null http://www.ebi.ac.uk/efo/EFO_0010598 node CHEBI_16893 sphinganine-1-phosphate null http://purl.obolibrary.org/obo/CHEBI_16893 node EFO_0004336 speech perception null http://www.ebi.ac.uk/efo/EFO_0004336 node EFO_0003409 obsolete_embryonic labial sensory complex null http://www.ebi.ac.uk/efo/EFO_0003409 node Orphanet_99950 Charcot-Marie-Tooth disease type 4D null http://www.orpha.net/ORDO/Orphanet_99950 node Orphanet_821 Sotos syndrome null http://www.orpha.net/ORDO/Orphanet_821 node Orphanet_306669 Hemiparkinsonism-hemiatrophy syndrome null http://www.orpha.net/ORDO/Orphanet_306669 node MONDO_0020172 palpebral epidermal tumor null http://purl.obolibrary.org/obo/MONDO_0020172 node EFO_0009184 heart rate response to exercise null http://www.ebi.ac.uk/efo/EFO_0009184 node EFO_1000608 Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant null http://www.ebi.ac.uk/efo/EFO_1000608 node HP_0011659 Tetralogy of Fallot with absent pulmonary valve null http://purl.obolibrary.org/obo/HP_0011659 node HP_0002395 Lower limb hyperreflexia null http://purl.obolibrary.org/obo/HP_0002395 node EFO_0010705 periportal hepatic sinusoidal endothelial cell Made as a placeholder for AE anatomagrams, term should be requested in CL. http://www.ebi.ac.uk/efo/EFO_0010705 node Orphanet_276630 Symptomatic form of Coffin-Lowry syndrome in female carriers null http://www.orpha.net/ORDO/Orphanet_276630 node MONDO_0044746 zoonotic bacterial infection null http://purl.obolibrary.org/obo/MONDO_0044746 node EFO_0003377 obsolete_small intestine primordium null http://www.ebi.ac.uk/efo/EFO_0003377 node EFO_0004424 family relationship null http://www.ebi.ac.uk/efo/EFO_0004424 node MONDO_0004821 nasopharyngeal disease null http://purl.obolibrary.org/obo/MONDO_0004821 node MONDO_0018791 Moyomoya angiopathy null http://purl.obolibrary.org/obo/MONDO_0018791 node UBERON_0003688 omentum null http://purl.obolibrary.org/obo/UBERON_0003688 node EFO_0004237 Graves disease null http://www.ebi.ac.uk/efo/EFO_0004237 node EFO_1001800 Intervertebral Disc Displacement null http://www.ebi.ac.uk/efo/EFO_1001800 node HP_0002104 Apnea null http://purl.obolibrary.org/obo/HP_0002104 node GO_0040017 positive regulation of locomotion null http://purl.obolibrary.org/obo/GO_0040017 node NCBITaxon_9544 Macaca mulatta null http://purl.obolibrary.org/obo/NCBITaxon_9544 node EFO_0000932 obsolete_bronchus null http://www.ebi.ac.uk/efo/EFO_0000932 node EFO_0006542 BICR 31 null http://www.ebi.ac.uk/efo/EFO_0006542 node MONDO_0044347 erythrocyte disease null http://purl.obolibrary.org/obo/MONDO_0044347 node HP_0025534 Ocular melanocytosis In ocular melanocytosis, Intraocular pigmentation is also increased, which contributes to a higher incidence of glaucoma and increases the risk of malignant melanoma. http://purl.obolibrary.org/obo/HP_0025534 node Orphanet_99003 Multifocal pattern dystrophy simulating fundus flavimaculatus null http://www.orpha.net/ORDO/Orphanet_99003 node EFO_1001436 thyroid nodule null http://www.ebi.ac.uk/efo/EFO_1001436 node EFO_1000509 Retinal Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000509 node EFO_0006389 DLD1 null http://www.ebi.ac.uk/efo/EFO_0006389 node EFO_0000065 CS57704 null http://www.ebi.ac.uk/efo/EFO_0000065 node UBERON_0004880 chordamesoderm null http://purl.obolibrary.org/obo/UBERON_0004880 node Orphanet_85450 Familial renal amyloidosis null http://www.orpha.net/ORDO/Orphanet_85450 node EFO_0004910 CYP3A4 activity null http://www.ebi.ac.uk/efo/EFO_0004910 node NCBITaxon_34276 Gossypium darwinii null http://purl.obolibrary.org/obo/NCBITaxon_34276 node MONDO_0016747 primary melanoma of the central nervous system null http://purl.obolibrary.org/obo/MONDO_0016747 node EFO_0010280 intellectual developmental disorder, autosomal recessive 71 null http://www.ebi.ac.uk/efo/EFO_0010280 node EFO_0006630 KYSE-450 null http://www.ebi.ac.uk/efo/EFO_0006630 node MONDO_0017104 central nervous system cystic malformation null http://purl.obolibrary.org/obo/MONDO_0017104 node EFO_0006477 RI-1 null http://www.ebi.ac.uk/efo/EFO_0006477 node EFO_0000153 CS57874 null http://www.ebi.ac.uk/efo/EFO_0000153 node Orphanet_295205 Humero-radio-ulnar synostosis, unilateral null http://www.orpha.net/ORDO/Orphanet_295205 node NCBITaxon_223283 Pseudomonas syringae pv. tomato str. DC3000 null http://purl.obolibrary.org/obo/NCBITaxon_223283 node Orphanet_79495 X-linked congenital generalized hypertrichosis null http://www.orpha.net/ORDO/Orphanet_79495 node MONDO_0000577 congenital anemia null http://purl.obolibrary.org/obo/MONDO_0000577 node EFO_0005720 SK-MEL-5 null http://www.ebi.ac.uk/efo/EFO_0005720 node MONDO_0021046 breast fibroepithelial neoplasm null http://purl.obolibrary.org/obo/MONDO_0021046 node EFO_0008258 persulfide dioxygenase ETHE1, mitochondrial measurement null http://www.ebi.ac.uk/efo/EFO_0008258 node EFO_0010181 cell picking null http://www.ebi.ac.uk/efo/EFO_0010181 node EFO_0007480 scrub typhus null http://www.ebi.ac.uk/efo/EFO_0007480 node Orphanet_2785 Osteopetrosis with renal tubular acidosis null http://www.orpha.net/ORDO/Orphanet_2785 node MONDO_0000665 apraxia null http://purl.obolibrary.org/obo/MONDO_0000665 node EFO_0006800 vascular brain injury measurement null http://www.ebi.ac.uk/efo/EFO_0006800 node Orphanet_220497 Joubert syndrome with renal defect null http://www.orpha.net/ORDO/Orphanet_220497 node Orphanet_100032 Hypocalcified amelogenesis imperfecta null http://www.orpha.net/ORDO/Orphanet_100032 node EFO_0008523 sessile serrated polyp A sessile serrated adenoma, also known as sessile serrated polyp, is a premalignant flat (or sessile) lesion of the colon, predominantly seen in the cecum and ascending colon. http://www.ebi.ac.uk/efo/EFO_0008523 node MONDO_0002225 ovarian sarcoma null http://purl.obolibrary.org/obo/MONDO_0002225 node Orphanet_64751 Hereditary motor and sensory neuropathy type 5 null http://www.orpha.net/ORDO/Orphanet_64751 node EFO_0008159 inosine-5'-monophosphate dehydrogenase 2 measurement null http://www.ebi.ac.uk/efo/EFO_0008159 node MONDO_0018400 rare female infertility due to an adrenal disorder null http://purl.obolibrary.org/obo/MONDO_0018400 node Orphanet_169095 Alymphoid cystic thymic dysgenesis null http://www.orpha.net/ORDO/Orphanet_169095 node EFO_0007773 cutaneous psoriasis measurement null http://www.ebi.ac.uk/efo/EFO_0007773 node MONDO_0001680 vaginal mullerian papilloma null http://purl.obolibrary.org/obo/MONDO_0001680 node EFO_0009965 Schizoaffective disorder-bipolar type null http://www.ebi.ac.uk/efo/EFO_0009965 node EFO_0001761 pathogenicity design null http://www.ebi.ac.uk/efo/EFO_0001761 node EFO_1000474 Pineal Parenchymal Tumor of Intermediate Differentiation null http://www.ebi.ac.uk/efo/EFO_1000474 node MONDO_0001493 chronic pulmonary heart disease null http://purl.obolibrary.org/obo/MONDO_0001493 node NCBITaxon_55173 Leptosphaerulina chartarum null http://purl.obolibrary.org/obo/NCBITaxon_55173 node EFO_1000297 Histiocytic and Dendritic Cell Neoplasm null http://www.ebi.ac.uk/efo/EFO_1000297 node EFO_1000778 vulvar inverted follicular keratosis null http://www.ebi.ac.uk/efo/EFO_1000778 node MONDO_0020665 high grade malignant neoplasm null http://purl.obolibrary.org/obo/MONDO_0020665 node EFO_0002158 DB null http://www.ebi.ac.uk/efo/EFO_0002158 node Orphanet_98614 Conjunctival lymphangiectasia null http://www.orpha.net/ORDO/Orphanet_98614 node CL_0002089 group 2 innate lymphoid cell, mouse null http://purl.obolibrary.org/obo/CL_0002089 node GO_0012505 endomembrane system null http://purl.obolibrary.org/obo/GO_0012505 node Orphanet_363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome null http://www.orpha.net/ORDO/Orphanet_363694 node EFO_1000562 Tenosynovial Giant Cell Tumor null http://www.ebi.ac.uk/efo/EFO_1000562 node UBERON_2001378 axial hypoblast null http://purl.obolibrary.org/obo/UBERON_2001378 node EFO_0004992 Otitis media null http://www.ebi.ac.uk/efo/EFO_0004992 node EFO_1000385 Mixed Tumor of the Skin null http://www.ebi.ac.uk/efo/EFO_1000385 node MP_0003254 obsolete_bile duct inflammation null http://purl.obolibrary.org/obo/MP_0003254 node EFO_0009737 data curator null http://www.ebi.ac.uk/efo/EFO_0009737 node CHEBI_64198 dimercaprol null http://purl.obolibrary.org/obo/CHEBI_64198 node NCBITaxon_471876 Streptococcus pyogenes NZ131 null http://purl.obolibrary.org/obo/NCBITaxon_471876 node HP_0006554 Acute hepatic failure null http://purl.obolibrary.org/obo/HP_0006554 node UBERON_0001289 descending limb of loop of Henle null http://purl.obolibrary.org/obo/UBERON_0001289 node EFO_0007307 Herpes simplex virus gingivostomatitis null http://www.ebi.ac.uk/efo/EFO_0007307 node Orphanet_66631 CEDNIK syndrome null http://www.orpha.net/ORDO/Orphanet_66631 node EFO_0001199 LY2 null http://www.ebi.ac.uk/efo/EFO_0001199 node EFO_0002246 NAMALWA null http://www.ebi.ac.uk/efo/EFO_0002246 node EFO_0001319 segmentation 14-19 somites null http://www.ebi.ac.uk/efo/EFO_0001319 node HP_0001948 Alkalosis When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. http://purl.obolibrary.org/obo/HP_0001948 node MONDO_0024469 chondrogenic neoplasm null http://purl.obolibrary.org/obo/MONDO_0024469 node Orphanet_397968 Charcot-Marie-Tooth disease type 2R null http://www.orpha.net/ORDO/Orphanet_397968 node FBbt_00005072 circular visceral muscle fiber null http://purl.obolibrary.org/obo/FBbt_00005072 node EFO_0002059 HT1080 null http://www.ebi.ac.uk/efo/EFO_0002059 node NCBITaxon_1561 Clostridium baratii null http://purl.obolibrary.org/obo/NCBITaxon_1561 node NCBITaxon_42677 Fusarium subglutinans null http://purl.obolibrary.org/obo/NCBITaxon_42677 node UBERON_0001969 blood plasma null http://purl.obolibrary.org/obo/UBERON_0001969 node MONDO_0003223 meninges hemangiopericytoma null http://purl.obolibrary.org/obo/MONDO_0003223 node EFO_0002467 obsolete_motor cortex null http://www.ebi.ac.uk/efo/EFO_0002467 node EFO_0009825 sign or symptom concerning food and fluid intake null http://www.ebi.ac.uk/efo/EFO_0009825 node EFO_0002948 postnatal null http://www.ebi.ac.uk/efo/EFO_0002948 node EFO_0009261 response to aripiprazole null http://www.ebi.ac.uk/efo/EFO_0009261 node HP_0002555 Absent pubic hair null http://purl.obolibrary.org/obo/HP_0002555 node EFO_0009638 spontaneous labor and birth null http://www.ebi.ac.uk/efo/EFO_0009638 node CHEBI_64123 NAN 190 hydrobromide null http://purl.obolibrary.org/obo/CHEBI_64123 node CHEBI_64099 4-fluoro-N-\{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl\}benzamide hydrochloride null http://purl.obolibrary.org/obo/CHEBI_64099 node Orphanet_3164 Omphalocele syndrome, Shprintzen-Goldberg type null http://www.orpha.net/ORDO/Orphanet_3164 node HP_0010970 Blood group antigen abnormality During development, the human immune system recognizes antigens of the body as 'self' and does not generate antibodies against them. http://purl.obolibrary.org/obo/HP_0010970 node CLO_0013751 GM17180 null http://purl.obolibrary.org/obo/CLO_0013751 node EFO_0003096 Pick disease null http://www.ebi.ac.uk/efo/EFO_0003096 node HP_0000014 Abnormality of the bladder null http://purl.obolibrary.org/obo/HP_0000014 node NCBITaxon_286192 Saccharum officinarum complex null http://purl.obolibrary.org/obo/NCBITaxon_286192 node EFO_0002555 obsolete_pyloric antrum null http://www.ebi.ac.uk/efo/EFO_0002555 node EFO_0007002 luteinizing hormone measurement null http://www.ebi.ac.uk/efo/EFO_0007002 node EFO_1001776 Chilaiditi Syndrome null http://www.ebi.ac.uk/efo/EFO_1001776 node HP_0002162 Low posterior hairline This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately. http://purl.obolibrary.org/obo/HP_0002162 node GO_1901137 carbohydrate derivative biosynthetic process null http://purl.obolibrary.org/obo/GO_1901137 node MONDO_0100062 developmental and epileptic encephalopathy Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes. http://purl.obolibrary.org/obo/MONDO_0100062 node EFO_0004115 obsolete_seq instrument model flag null http://www.ebi.ac.uk/efo/EFO_0004115 node CHEBI_84056 N-acetylisoleucine null http://purl.obolibrary.org/obo/CHEBI_84056 node Orphanet_281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome null http://www.orpha.net/ORDO/Orphanet_281201 node EFO_0006947 red wine liking measurement null http://www.ebi.ac.uk/efo/EFO_0006947 node EFO_0002615 internal carotid artery stenosis null http://www.ebi.ac.uk/efo/EFO_0002615 node Orphanet_93453 Dysostosis with predominant craniofacial involvement null http://www.orpha.net/ORDO/Orphanet_93453 node EFO_0003560 obsolete_symplectic null http://www.ebi.ac.uk/efo/EFO_0003560 node Orphanet_307711 Disease with diffuse palmoplantar keratoderma as a major feature null http://www.orpha.net/ORDO/Orphanet_307711 node Orphanet_3310 Tetrasomy 9p null http://www.orpha.net/ORDO/Orphanet_3310 node HP_0000118 Phenotypic abnormality This is the root of the phenotypic abnormality subontology of the HPO. http://purl.obolibrary.org/obo/HP_0000118 node MONDO_0100150 RYR1-related myopathy A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion. http://purl.obolibrary.org/obo/MONDO_0100150 node Orphanet_168544 Spondylometaphyseal dysplasia, Golden type null http://www.orpha.net/ORDO/Orphanet_168544 node NCBITaxon_33858 environmental samples null http://purl.obolibrary.org/obo/NCBITaxon_33858 node MONDO_0044996 cerebral cortex disease null http://purl.obolibrary.org/obo/MONDO_0044996 node Orphanet_324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain null http://www.orpha.net/ORDO/Orphanet_324585 node CHEBI_35190 diterpene null http://purl.obolibrary.org/obo/CHEBI_35190 node Orphanet_255138 Pyruvate dehydrogenase E1-beta deficiency null http://www.orpha.net/ORDO/Orphanet_255138 node EFO_0004016 insertion null http://www.ebi.ac.uk/efo/EFO_0004016 node MONDO_0014137 precocious puberty, central, 2 null http://purl.obolibrary.org/obo/MONDO_0014137 node EFO_0004601 transcriptomic data null http://www.ebi.ac.uk/efo/EFO_0004601 node EFO_0000230 obsolete_adenohypophysis null http://www.ebi.ac.uk/efo/EFO_0000230 node EFO_0000711 obsolete_strain factor null http://www.ebi.ac.uk/efo/EFO_0000711 node Orphanet_308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form null http://www.orpha.net/ORDO/Orphanet_308684 node EFO_0000558 Kaposi's sarcoma null http://www.ebi.ac.uk/efo/EFO_0000558 node EFO_1001239 vulvitis null http://www.ebi.ac.uk/efo/EFO_1001239 node CL_0000877 splenic tingible body macrophage null http://purl.obolibrary.org/obo/CL_0000877 node EFO_0005669 intracerebral hemorrhage Editor note: consider separate subclass for OMIM ID http://www.ebi.ac.uk/efo/EFO_0005669 node Orphanet_79186 Disorder of pentose phosphate metabolism null http://www.orpha.net/ORDO/Orphanet_79186 node Orphanet_1195 Congenital atransferrinemia null http://www.orpha.net/ORDO/Orphanet_1195 node EFO_0007974 vaccenic acid measurement null http://www.ebi.ac.uk/efo/EFO_0007974 node MONDO_0100033 metabolic epilepsy null http://purl.obolibrary.org/obo/MONDO_0100033 node EFO_0005230 anxiety null http://www.ebi.ac.uk/efo/EFO_0005230 node MONDO_0021123 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone null http://purl.obolibrary.org/obo/MONDO_0021123 node MONDO_0016222 spindle cell hemangioma null http://purl.obolibrary.org/obo/MONDO_0016222 node CHEBI_24996 lactate null http://purl.obolibrary.org/obo/CHEBI_24996 node CHEBI_16704 uridine null http://purl.obolibrary.org/obo/CHEBI_16704 node EFO_0005053 internal carotid intimal medial thickness null http://www.ebi.ac.uk/efo/EFO_0005053 node CHEBI_27563 arsenic null http://purl.obolibrary.org/obo/CHEBI_27563 node MONDO_0007145 aplasia cutis congenita (disease) null http://purl.obolibrary.org/obo/MONDO_0007145 node MONDO_0000521 salivary gland carcinoma null http://purl.obolibrary.org/obo/MONDO_0000521 node CL_0000484 connective tissue type mast cell They are CD88-positive. The cytoplasmic granules contain high levels of histamine and heparin (mouse) or major neutral proteases, tryptase, chymase, carboxypeptidase A, and cathepsin G (humans). Reportedly, they cannot produce leukotrienes (LTC4) and IL-4. They are reportedly very heterogeneous depending upon location and can convert to the MC(T) phenotype. http://purl.obolibrary.org/obo/CL_0000484 node CL_0000965 Bm3 B cell Bm3 B cells are also reportedly CD10-positive, CD23-negative, CD39-negative, CD44-negative, CD71-positive, and CD77-positive. http://purl.obolibrary.org/obo/CL_0000965 node CHEBI_44616 afimoxifene null http://purl.obolibrary.org/obo/CHEBI_44616 node Orphanet_330197 Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability null http://www.orpha.net/ORDO/Orphanet_330197 node CL_0000778 mononuclear osteoclast Morphology: mononuclear, highly vesicular. http://purl.obolibrary.org/obo/CL_0000778 node GO_0030133 transport vesicle null http://purl.obolibrary.org/obo/GO_0030133 node MONDO_0000429 autosomal genetic disease null http://purl.obolibrary.org/obo/MONDO_0000429 node EFO_0010219 aldosterone measurement null http://www.ebi.ac.uk/efo/EFO_0010219 node MONDO_0020022 central nervous system malformation null http://purl.obolibrary.org/obo/MONDO_0020022 node CL_0002062 type I pneumocyte null http://purl.obolibrary.org/obo/CL_0002062 node GO_0097333 response to olanzapine null http://purl.obolibrary.org/obo/GO_0097333 node Orphanet_2950 Triphalangeal thumb - polysyndactyly syndrome null http://www.orpha.net/ORDO/Orphanet_2950 node Orphanet_98815 Benign childhood occipital epilepsy, Panayiotopoulos type null http://www.orpha.net/ORDO/Orphanet_98815 node MONDO_0007631 chromosome 16p12.1 deletion syndrome, 520kb null http://purl.obolibrary.org/obo/MONDO_0007631 node Orphanet_53690 Congenital lactase deficiency null http://www.orpha.net/ORDO/Orphanet_53690 node EFO_0010003 RASL-seq null http://www.ebi.ac.uk/efo/EFO_0010003 node EFO_0007559 screening library null http://www.ebi.ac.uk/efo/EFO_0007559 node CHEBI_18095 trans-4-hydroxy-L-proline null http://purl.obolibrary.org/obo/CHEBI_18095 node Orphanet_2564 Tetramelic monodactyly null http://www.orpha.net/ORDO/Orphanet_2564 node HP_0000494 Downslanted palpebral fissures null http://purl.obolibrary.org/obo/HP_0000494 node EFO_0010307 inferior parietal cortex volume measurement null http://www.ebi.ac.uk/efo/EFO_0010307 node Orphanet_2377 Laurence-Moon syndrome null http://www.orpha.net/ORDO/Orphanet_2377 node Orphanet_676 Hereditary chronic pancreatitis null http://www.orpha.net/ORDO/Orphanet_676 node EFO_1000855 central core myopathy null http://www.ebi.ac.uk/efo/EFO_1000855 node MONDO_0032843 oculopharyngeal myopathy with leukoencephalopathy 1 null http://purl.obolibrary.org/obo/MONDO_0032843 node CL_0002530 immature CD1a-positive dermal dendritic cell null http://purl.obolibrary.org/obo/CL_0002530 node EFO_0007341 obsolete_Legg-Calve-Perthes Disease null http://www.ebi.ac.uk/efo/EFO_0007341 node NCBITaxon_920 Acidithiobacillus ferrooxidans null http://purl.obolibrary.org/obo/NCBITaxon_920 node CL_0002353 fetal liver hematopoietic progenitor cell null http://purl.obolibrary.org/obo/CL_0002353 node Orphanet_263482 Spondyloepiphyseal dysplasia, Maroteaux type null http://www.orpha.net/ORDO/Orphanet_263482 node EFO_0004595 HIV mother to child transmission null http://www.ebi.ac.uk/efo/EFO_0004595 node MONDO_0001045 intestinal atresia (disease) null http://purl.obolibrary.org/obo/MONDO_0001045 node Orphanet_280356 Familial partial lipodystrophy associated with PLIN1 mutations null http://www.orpha.net/ORDO/Orphanet_280356 node CLO_0017044 GM17737 null http://purl.obolibrary.org/obo/CLO_0017044 node EFO_0007647 response to vancomycin null http://www.ebi.ac.uk/efo/EFO_0007647 node EFO_0007083 HUES48 null http://www.ebi.ac.uk/efo/EFO_0007083 node HP_0000377 Abnormality of the pinna The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance. http://purl.obolibrary.org/obo/HP_0000377 node FBbt_00005542 central brain primordium null http://purl.obolibrary.org/obo/FBbt_00005542 node MONDO_0009305 granulocytopenia with immunoglobulin abnormality null http://purl.obolibrary.org/obo/MONDO_0009305 node PATO_0000070 amount null http://purl.obolibrary.org/obo/PATO_0000070 node MONDO_0015476 cysts and fistulae of the face and oral cavity null http://purl.obolibrary.org/obo/MONDO_0015476 node EFO_0008972 TL-seq null http://www.ebi.ac.uk/efo/EFO_0008972 node Orphanet_98305 Genetic lipodystrophy null http://www.orpha.net/ORDO/Orphanet_98305 node Orphanet_577 Mucolipidosis type III null http://www.orpha.net/ORDO/Orphanet_577 node EFO_1000943 Fusobacterium infectious disease null http://www.ebi.ac.uk/efo/EFO_1000943 node MONDO_0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal null http://purl.obolibrary.org/obo/MONDO_0032931 node EFO_0003965 very low birth weight infant null http://www.ebi.ac.uk/efo/EFO_0003965 node EFO_0007868 response to erlotinib null http://www.ebi.ac.uk/efo/EFO_0007868 node CL_0000896 activated CD4-positive, alpha-beta T cell null http://purl.obolibrary.org/obo/CL_0000896 node HP_0000598 Abnormality of the ear Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. http://purl.obolibrary.org/obo/HP_0000598 node CHEBI_82932 4-ethylphenyl sulfate null http://purl.obolibrary.org/obo/CHEBI_82932 node EFO_0004683 wet macular degeneration null http://www.ebi.ac.uk/efo/EFO_0004683 node Orphanet_294957 Dysostosis with combined reduction defects of upper and lower limbs null http://www.orpha.net/ORDO/Orphanet_294957 node EFO_0002804 TH-2 null http://www.ebi.ac.uk/efo/EFO_0002804 node NCBITaxon_38785 Arabidopsis arenosa null http://purl.obolibrary.org/obo/NCBITaxon_38785 node FBbt_00005630 embryonic hindgut null http://purl.obolibrary.org/obo/FBbt_00005630 node EFO_0007171 black piedra null http://www.ebi.ac.uk/efo/EFO_0007171 node UBERON_0005409 alimentary part of gastrointestinal system null http://purl.obolibrary.org/obo/UBERON_0005409 node NCBITaxon_360807 Roseburia inulinivorans null http://purl.obolibrary.org/obo/NCBITaxon_360807 node Orphanet_93946 Hamel cerebro-palato-cardiac syndrome null http://www.orpha.net/ORDO/Orphanet_93946 node MONDO_0009206 factor V and factor VIII, combined deficiency of, type 1 null http://purl.obolibrary.org/obo/MONDO_0009206 node Orphanet_49827 Thiamine-responsive megaloblastic anemia syndrome null http://www.orpha.net/ORDO/Orphanet_49827 node EFO_0000875 obsolete_fin null http://www.ebi.ac.uk/efo/EFO_0000875 node EFO_0008108 dermatopontin measurement null http://www.ebi.ac.uk/efo/EFO_0008108 node EFO_0006314 response to high-dose melphalan null http://www.ebi.ac.uk/efo/EFO_0006314 node MONDO_0024634 large intestine disease null http://purl.obolibrary.org/obo/MONDO_0024634 node EFO_0001382 puberty null http://www.ebi.ac.uk/efo/EFO_0001382 node UBERON_0001675 trigeminal ganglion null http://purl.obolibrary.org/obo/UBERON_0001675 node Orphanet_79332 B4GALT1-CDG null http://www.orpha.net/ORDO/Orphanet_79332 node HP_0005855 Multiple prenatal fractures null http://purl.obolibrary.org/obo/HP_0005855 node EFO_0009914 FA complementation group E null http://www.ebi.ac.uk/efo/EFO_0009914 node Orphanet_139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts null http://www.orpha.net/ORDO/Orphanet_139444 node Orphanet_99901 Acyl-CoA dehydrogenase 9 deficiency null http://www.orpha.net/ORDO/Orphanet_99901 node Orphanet_139373 Recessive hereditary methemoglobinemia type 1 null http://www.orpha.net/ORDO/Orphanet_139373 node BTO_0001205 RT4-D6P2T cell null http://purl.obolibrary.org/obo/BTO_0001205 node EFO_0000963 obsolete_tail null http://www.ebi.ac.uk/efo/EFO_0000963 node EFO_0003350 obsolete_inclusive hindgut primordium null http://www.ebi.ac.uk/efo/EFO_0003350 node EFO_0006402 G130 null http://www.ebi.ac.uk/efo/EFO_0006402 node Orphanet_363417 Temtamy preaxial brachydactyly syndrome null http://www.orpha.net/ORDO/Orphanet_363417 node EFO_0009040 Cranio-cervical dystonia with laryngeal and upper-limb involvement null http://www.ebi.ac.uk/efo/EFO_0009040 node EFO_0009521 dislocation null http://www.ebi.ac.uk/efo/EFO_0009521 node EFO_0010085 anti-tetanus toxoid IgG measurement null http://www.ebi.ac.uk/efo/EFO_0010085 node UBERON_2001468 anterior lateral line system null http://purl.obolibrary.org/obo/UBERON_2001468 node GO_0044217 other organism part null http://purl.obolibrary.org/obo/GO_0044217 node Orphanet_99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 null http://www.orpha.net/ORDO/Orphanet_99947 node NCBITaxon_398580 Dinoroseobacter shibae DFL 12 null http://purl.obolibrary.org/obo/NCBITaxon_398580 node Orphanet_314588 Distal tetrasomy 15q null http://www.orpha.net/ORDO/Orphanet_314588 node EFO_0000570 obsolete_lobular breast carcinoma null http://www.ebi.ac.uk/efo/EFO_0000570 node MONDO_0020169 rare disorder with ptosis null http://purl.obolibrary.org/obo/MONDO_0020169 node EFO_1001251 obsolete_branchio-oto-renal syndrome (from orpha.net) Summary Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required. http://www.ebi.ac.uk/efo/EFO_1001251 node EFO_0004754 interleukin 1 receptor antagonist measurement null http://www.ebi.ac.uk/efo/EFO_0004754 node Orphanet_141269 Lateral facial cleft null http://www.orpha.net/ORDO/Orphanet_141269 node MONDO_0010986 autosomal recessive nonsyndromic deafness 9 null http://purl.obolibrary.org/obo/MONDO_0010986 node EFO_0010787 interleukin-12 subunit B measurement null http://www.ebi.ac.uk/efo/EFO_0010787 node CHEBI_7939 parthenolide null http://purl.obolibrary.org/obo/CHEBI_7939 node EFO_0003098 obsolete_meningioma null http://www.ebi.ac.uk/efo/EFO_0003098 node NCBITaxon_172790 Solanum phureja null http://purl.obolibrary.org/obo/NCBITaxon_172790 node GO_1903493 response to clopidogrel null http://purl.obolibrary.org/obo/GO_1903493 node EFO_0003579 obsolete_rhombomere 2 null http://www.ebi.ac.uk/efo/EFO_0003579 node EFO_1001953 endometrial endometrioid adenocarcinoma, variant with squamous differentiation null http://www.ebi.ac.uk/efo/EFO_1001953 node HP_0003418 Back pain null http://purl.obolibrary.org/obo/HP_0003418 node EFO_0010173 oophorectomy null http://www.ebi.ac.uk/efo/EFO_0010173 node GO_0000226 microtubule cytoskeleton organization null http://purl.obolibrary.org/obo/GO_0000226 node HP_0001259 Coma Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem. http://purl.obolibrary.org/obo/HP_0001259 node MONDO_0012944 chromosome 17P13.3, telomeric, duplication syndrome null http://purl.obolibrary.org/obo/MONDO_0012944 node EFO_0005746 G2 null http://www.ebi.ac.uk/efo/EFO_0005746 node Orphanet_79263 Infantile neuronal ceroid lipofuscinosis null http://www.orpha.net/ORDO/Orphanet_79263 node Orphanet_1355 Heart defect - round face - congenital developmental delay null http://www.orpha.net/ORDO/Orphanet_1355 node Orphanet_1940 Shoulder and thorax deformity - congenital heart disease null http://www.orpha.net/ORDO/Orphanet_1940 node EFO_0010394 sphingomyelin 18:1 measurement null http://www.ebi.ac.uk/efo/EFO_0010394 node EFO_0009210 Hemoglobin A1 to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009210 node EFO_0010875 HG03280 null http://www.ebi.ac.uk/efo/EFO_0010875 node Orphanet_314911 Severe Canavan disease null http://www.orpha.net/ORDO/Orphanet_314911 node Orphanet_98990 Coralliform cataract null http://www.orpha.net/ORDO/Orphanet_98990 node Orphanet_1576 Infantile bilateral striatal necrosis null http://www.orpha.net/ORDO/Orphanet_1576 node EFO_0003023 interferon beta null http://www.ebi.ac.uk/efo/EFO_0003023 node CHEBI_28757 fructose null http://purl.obolibrary.org/obo/CHEBI_28757 node Orphanet_93358 Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification null http://www.orpha.net/ORDO/Orphanet_93358 node EFO_0006333 transferrin saturation measurement null http://www.ebi.ac.uk/efo/EFO_0006333 node CHEBI_31823 mercury dichloride null http://purl.obolibrary.org/obo/CHEBI_31823 node EFO_0005834 OSC null http://www.ebi.ac.uk/efo/EFO_0005834 node EFO_0010454 adenosine monophosphate measurement null http://www.ebi.ac.uk/efo/EFO_0010454 node Orphanet_79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form null http://www.orpha.net/ORDO/Orphanet_79351 node Orphanet_22 4-hydroxybutyric aciduria null http://www.orpha.net/ORDO/Orphanet_22 node EFO_0010277 O'Donnell-Luria-Rodan syndrome null http://www.ebi.ac.uk/efo/EFO_0010277 node CHEBI_52010 chlorphenamine null http://purl.obolibrary.org/obo/CHEBI_52010 node CLO_0016561 GM17752 null http://purl.obolibrary.org/obo/CLO_0016561 node NCBITaxon_53961 Salmonella enterica subsp. enterica serovar Abortusovis null http://purl.obolibrary.org/obo/NCBITaxon_53961 node EFO_0009111 laser capture microdissection null http://www.ebi.ac.uk/efo/EFO_0009111 node Orphanet_98873 Congenital dyserythropoietic anemia type II null http://www.orpha.net/ORDO/Orphanet_98873 node Orphanet_261647 Okihiro syndrome due to a point mutation null http://www.orpha.net/ORDO/Orphanet_261647 node NCBITaxon_203907 Candidatus Blochmannia floridanus null http://purl.obolibrary.org/obo/NCBITaxon_203907 node CLO_0016678 GM17793 null http://purl.obolibrary.org/obo/CLO_0016678 node NCBITaxon_47493 Lactobacillus panis null http://purl.obolibrary.org/obo/NCBITaxon_47493 node EFO_0001974 obsolete_optic disc null http://www.ebi.ac.uk/efo/EFO_0001974 node EFO_0008588 peritonitis null http://www.ebi.ac.uk/efo/EFO_0008588 node EFO_0002891 prostate derived cell line null http://www.ebi.ac.uk/efo/EFO_0002891 node Orphanet_35689 Primary lateral sclerosis null http://www.orpha.net/ORDO/Orphanet_35689 node EFO_0006794 cerebrospinal fluid biomarker measurement null http://www.ebi.ac.uk/efo/EFO_0006794 node EFO_0005922 esophageal squamous cell carcinoma null http://www.ebi.ac.uk/efo/EFO_0005922 node EFO_0010542 ureidopropionic acid measurement null http://www.ebi.ac.uk/efo/EFO_0010542 node EFO_0001787 translational bias design null http://www.ebi.ac.uk/efo/EFO_0001787 node EFO_0005232 endometrium adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_0005232 node CHEBI_75450 1-oleoyl-2-linoleoyl-glycerol (18:1/18:2) null http://purl.obolibrary.org/obo/CHEBI_75450 node Orphanet_2969 Proteus-like syndrome null http://www.orpha.net/ORDO/Orphanet_2969 node Orphanet_100051 Hereditary angioedema type 2 null http://www.orpha.net/ORDO/Orphanet_100051 node NCBITaxon_106773 Pachycladon cheesemanii null http://purl.obolibrary.org/obo/NCBITaxon_106773 node Orphanet_280620 Progressive myoclonic epilepsy type 6 null http://www.orpha.net/ORDO/Orphanet_280620 node CHEBI_27905 phenyl hydrogen sulfate null http://purl.obolibrary.org/obo/CHEBI_27905 node EFO_0008676 CAST-ChIP null http://www.ebi.ac.uk/efo/EFO_0008676 node EFO_0006882 suicide behaviour measurement null http://www.ebi.ac.uk/efo/EFO_0006882 node MONDO_0001589 obsolete vaginal enterocele Represents finding. http://purl.obolibrary.org/obo/MONDO_0001589 node EFO_0007724 carotid artery circumferential wall stress measurement null http://www.ebi.ac.uk/efo/EFO_0007724 node Orphanet_95716 Familial thyroid dyshormonogenesis null http://www.orpha.net/ORDO/Orphanet_95716 node Orphanet_64748 Dejerine-Sottas syndrome Editor note: merged Dejerine-Sottas Neuropathy on basis of Ordo and ncit http://www.orpha.net/ORDO/Orphanet_64748 node Orphanet_2149 Nodular neuronal heterotopia null http://www.orpha.net/ORDO/Orphanet_2149 node MONDO_0002852 mediastinum sarcoma null http://purl.obolibrary.org/obo/MONDO_0002852 node Orphanet_216866 Classic pantothenate kinase-associated neurodegeneration null http://www.orpha.net/ORDO/Orphanet_216866 node HP_0003196 Short nose Note: a small nose has both decreased height and a decreased width. These should be coded separately. http://purl.obolibrary.org/obo/HP_0003196 node EFO_000910 obsolete_number of children ever born measurement null http://www.ebi.ac.uk/efo/EFO_000910 node EFO_0009710 micrometastasis null http://www.ebi.ac.uk/efo/EFO_0009710 node NCBITaxon_1752 Propionibacterium freudenreichii subsp. shermanii null http://purl.obolibrary.org/obo/NCBITaxon_1752 node EFO_0007812 Plasmodium falciparum antigen IgG measurement null http://www.ebi.ac.uk/efo/EFO_0007812 node Orphanet_168615 Hereditary persistence of alpha-fetoprotein null http://www.orpha.net/ORDO/Orphanet_168615 node EFO_1001398 Pneumocephalus null http://www.ebi.ac.uk/efo/EFO_1001398 node EFO_1001879 cancerophobia null http://www.ebi.ac.uk/efo/EFO_1001879 node EFO_1002016 poorly differentiated follicular thyroid carcinoma null http://www.ebi.ac.uk/efo/EFO_1002016 node Orphanet_2237 Hypoparathyroidism - deafness - renal disease null http://www.orpha.net/ORDO/Orphanet_2237 node Orphanet_313772 Early-onset spastic ataxia-neuropathy syndrome null http://www.orpha.net/ORDO/Orphanet_313772 node EFO_0009292 bone marrow aspiration null http://www.ebi.ac.uk/efo/EFO_0009292 node Orphanet_325632 46,XY disorder of sex development of gynecological interest null http://www.orpha.net/ORDO/Orphanet_325632 node EFO_0009756 autoimmune type 1 diabetes null http://www.ebi.ac.uk/efo/EFO_0009756 node EFO_0007343 Legionnaires' disease null http://www.ebi.ac.uk/efo/EFO_0007343 node EFO_0008188 interleukin 6 receptor subunit beta measurement null http://www.ebi.ac.uk/efo/EFO_0008188 node NCBITaxon_7160 Aedes albopictus null http://purl.obolibrary.org/obo/NCBITaxon_7160 node Orphanet_3214 Deaf blind hypopigmentation syndrome, Yemenite type null http://www.orpha.net/ORDO/Orphanet_3214 node Orphanet_319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations null http://www.orpha.net/ORDO/Orphanet_319462 node Orphanet_98696 Genodermatosis with ocular features null http://www.orpha.net/ORDO/Orphanet_98696 node UBERON_0000165 mouth null http://purl.obolibrary.org/obo/UBERON_0000165 node GO_1901554 response to acetaminophen Awaiting GO term import http://purl.obolibrary.org/obo/GO_1901554 node FBbt_00005544 maxillary sensory complex primordium null http://purl.obolibrary.org/obo/FBbt_00005544 node EFO_1001486 primary biliary cirrhosis synonym added http://www.ebi.ac.uk/efo/EFO_1001486 node EFO_0001260 WI38 null http://www.ebi.ac.uk/efo/EFO_0001260 node EFO_0009380 facial neuralgia null http://www.ebi.ac.uk/efo/EFO_0009380 node MONDO_0003619 salpingitis null http://purl.obolibrary.org/obo/MONDO_0003619 node EFO_1000804 anal gland neoplasm null http://www.ebi.ac.uk/efo/EFO_1000804 node EFO_0007431 peste des petits ruminants infectious disease null http://www.ebi.ac.uk/efo/EFO_0007431 node EFO_0009193 Pulmonary arterial hypertension associated with another disease null http://www.ebi.ac.uk/efo/EFO_0009193 node HP_0000079 Abnormality of the urinary system null http://purl.obolibrary.org/obo/HP_0000079 node UBERON_0001714 cranial ganglion null http://purl.obolibrary.org/obo/UBERON_0001714 node Orphanet_3115 Roussy-Lévy syndrome null http://www.orpha.net/ORDO/Orphanet_3115 node CHEBI_78894 docosadienoate null http://purl.obolibrary.org/obo/CHEBI_78894 node MONDO_0004892 refractive error null http://purl.obolibrary.org/obo/MONDO_0004892 node MONDO_0010589 Aarskog-Scott syndrome, X-linked null http://purl.obolibrary.org/obo/MONDO_0010589 node EFO_0007032 F1 null http://www.ebi.ac.uk/efo/EFO_0007032 node UBERON_0018244 superficial cervical thymus null http://purl.obolibrary.org/obo/UBERON_0018244 node Orphanet_276435 Lower motor neuron syndrome with late-adult onset null http://www.orpha.net/ORDO/Orphanet_276435 node NCBITaxon_1254 Pediococcus acidilactici null http://purl.obolibrary.org/obo/NCBITaxon_1254 node EFO_1001795 fusariosis null http://www.ebi.ac.uk/efo/EFO_1001795 node Orphanet_455 Superficial epidermolytic ichthyosis null http://www.orpha.net/ORDO/Orphanet_455 node EFO_1000705 granulomatous dermatitis null http://www.ebi.ac.uk/efo/EFO_1000705 node GO_0009259 ribonucleotide metabolic process null http://purl.obolibrary.org/obo/GO_0009259 node EFO_0000261 anterior endoderm primordium null http://www.ebi.ac.uk/efo/EFO_0000261 node MONDO_0015875 rare non-malformative uterine adnexal disease null http://purl.obolibrary.org/obo/MONDO_0015875 node EFO_1000153 obsolete_cecum adenocarcinoma null http://www.ebi.ac.uk/efo/EFO_1000153 node EFO_0003656 obsolete_cranial vasculature null http://www.ebi.ac.uk/efo/EFO_0003656 node Orphanet_268 Autosomal recessive limb-girdle muscular dystrophy type 2B null http://www.orpha.net/ORDO/Orphanet_268 node EFO_0010250 polydactyly, postaxial, A9 null http://www.ebi.ac.uk/efo/EFO_0010250 node EFO_0010731 response to low calorie diet null http://www.ebi.ac.uk/efo/EFO_0010731 node EFO_0007120 Tae-Yang null http://www.ebi.ac.uk/efo/EFO_0007120 node HP_0001336 Myoclonus Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus). Electrophysiological tests are very helpful in determining whether myoclonus is cortical, subcortical or spinal. http://purl.obolibrary.org/obo/HP_0001336 node EFO_0003040 embryonic cell line null http://www.ebi.ac.uk/efo/EFO_0003040 node CHEBI_27594 carbon null http://purl.obolibrary.org/obo/CHEBI_27594 node EFO_1000241 Endometrial Stromal Nodule null http://www.ebi.ac.uk/efo/EFO_1000241 node Orphanet_356 Gerstmann-Straussler-Scheinker syndrome Editor note: MESH considers as two diseases http://www.orpha.net/ORDO/Orphanet_356 node EFO_1001030 male genital tuberculosis null http://www.ebi.ac.uk/efo/EFO_1001030 node HP_0011311 Sydney crease The proximal transverse (five finger) crease starts on the radial side of the hand near the base of the index finger and extends toward the ulnar side of the palm, but does not reach the ulnar side. In this finding, the crease extends completely to the ulnar margin of the palm. http://purl.obolibrary.org/obo/HP_0011311 node EFO_0006590 Hs 766T null http://www.ebi.ac.uk/efo/EFO_0006590 node EFO_0003744 whole genome shotgun sequencing null http://www.ebi.ac.uk/efo/EFO_0003744 node EFO_0001331 129P1/ReJ null http://www.ebi.ac.uk/efo/EFO_0001331 node CHEBI_32395 arachidonate null http://purl.obolibrary.org/obo/CHEBI_32395 node EFO_0000162 CS57904 null http://www.ebi.ac.uk/efo/EFO_0000162 node Orphanet_77261 Gaucher disease type 3 null http://www.orpha.net/ORDO/Orphanet_77261 node EFO_0001154 GM12763 null http://www.ebi.ac.uk/efo/EFO_0001154 node PO_0006204 sporocyte null http://purl.obolibrary.org/obo/PO_0006204 node EFO_0000509 obsolete_genetic factor null http://www.ebi.ac.uk/efo/EFO_0000509 node PO_0007131 seedling development stage null http://purl.obolibrary.org/obo/PO_0007131 node EFO_0000414 obsolete_ectoderm null http://www.ebi.ac.uk/efo/EFO_0000414 node CLO_0013204 GM17278 null http://purl.obolibrary.org/obo/CLO_0013204 node Orphanet_97363 Unilateral multicystic dysplastic kidney null http://www.orpha.net/ORDO/Orphanet_97363 node EFO_0003112 obsolete_late infantile neuronal ceroid lipofuscinosis null http://www.ebi.ac.uk/efo/EFO_0003112 node EO_0007154 radiation quality treatment null http://purl.obolibrary.org/obo/EO_0007154 node UBERON_2001145 tooth 3V null http://purl.obolibrary.org/obo/UBERON_2001145 node MONDO_0024290 enuresis null http://purl.obolibrary.org/obo/MONDO_0024290 node HP_0007313 Cerebral degeneration null http://purl.obolibrary.org/obo/HP_0007313 node Orphanet_1051 Ramos-Arroyo syndrome null http://www.orpha.net/ORDO/Orphanet_1051 node CL_0000598 pyramidal neuron null http://purl.obolibrary.org/obo/CL_0000598 node CHEBI_18123 N-methylnicotinate null http://purl.obolibrary.org/obo/CHEBI_18123 node MONDO_0002397 liver sarcoma null http://purl.obolibrary.org/obo/MONDO_0002397 node EFO_0007532 uterine corpus cancer Editor note: NCIT has terms for both UC malignant neoplasm (NCIT:C3556) and cancer http://www.ebi.ac.uk/efo/EFO_0007532 node EFO_0006605 JJN-3 null http://www.ebi.ac.uk/efo/EFO_0006605 node EFO_0003200 oncostatin M null http://www.ebi.ac.uk/efo/EFO_0003200 node HANCESTRO_0014 Hispanic or Latin American null http://purl.obolibrary.org/obo/HANCESTRO_0014 node CHEBI_32366 margarate null http://purl.obolibrary.org/obo/CHEBI_32366 node Orphanet_52901 Isolated follicle stimulating hormone deficiency null http://www.orpha.net/ORDO/Orphanet_52901 node MONDO_0021470 benign neoplasm of pancreas null http://purl.obolibrary.org/obo/MONDO_0021470 node Orphanet_2678 Neurofibromatosis type 6 null http://www.orpha.net/ORDO/Orphanet_2678 node CHEBI_18211 citrulline null http://purl.obolibrary.org/obo/CHEBI_18211 node EFO_0004268 sclerosing cholangitis null http://www.ebi.ac.uk/efo/EFO_0004268 node CL_0002246 peripheral blood stem cell null http://purl.obolibrary.org/obo/CL_0002246 node Orphanet_324381 Hereditary inclusion body myopathy type 4 null http://www.orpha.net/ORDO/Orphanet_324381 node EFO_0007578 blood copper measurement null http://www.ebi.ac.uk/efo/EFO_0007578 node EFO_0007620 volumetric bone mineral density null http://www.ebi.ac.uk/efo/EFO_0007620 node CL_0002059 CD8alpha-positive thymic conventional dendritic cell null http://purl.obolibrary.org/obo/CL_0002059 node CHEBI_71466 oleoyl ethanolamide null http://purl.obolibrary.org/obo/CHEBI_71466 node HP_0031760 Non-accomodative esotropia null http://purl.obolibrary.org/obo/HP_0031760 node Orphanet_293181 Malignant migrating partial seizures of infancy null http://www.orpha.net/ORDO/Orphanet_293181 node MONDO_0010940 inherited susceptibility to asthma null http://purl.obolibrary.org/obo/MONDO_0010940 node CL_0002467 Gr1-high myeloid suppressor cell null http://purl.obolibrary.org/obo/CL_0002467 node EFO_0004050 CB678 null http://www.ebi.ac.uk/efo/EFO_0004050 node EFO_0010637 salivary metabolite measurement null http://www.ebi.ac.uk/efo/EFO_0010637 node EFO_0006484 SCC-3 null http://www.ebi.ac.uk/efo/EFO_0006484 node UBERON_0005566 rhombomere 1 floor plate null http://purl.obolibrary.org/obo/UBERON_0005566 node MONDO_0024626 defective phagocytic cell engulfment null http://purl.obolibrary.org/obo/MONDO_0024626 node Orphanet_71526 Obesity due to pro-opiomelanocortin deficiency null http://www.orpha.net/ORDO/Orphanet_71526 node Orphanet_25980 X-linked myopathy with excessive autophagy null http://www.orpha.net/ORDO/Orphanet_25980 node Orphanet_85294 X-linked epilepsy - learning disabilities - behavior disorders null http://www.orpha.net/ORDO/Orphanet_85294 node MONDO_0004116 esophageal small cell neuroendocrine carcinoma null http://purl.obolibrary.org/obo/MONDO_0004116 node Orphanet_55881 Adamantinoma null http://www.orpha.net/ORDO/Orphanet_55881 node EFO_0007503 suppurative otitis media null http://www.ebi.ac.uk/efo/EFO_0007503 node CHEBI_49668 gefitinib null http://purl.obolibrary.org/obo/CHEBI_49668 node CL_0002527 immature CD14-positive dermal dendritic cell null http://purl.obolibrary.org/obo/CL_0002527 node Orphanet_309836 Disorder of mineral absorption and transport null http://www.orpha.net/ORDO/Orphanet_309836 node NCBITaxon_128947 Zaire ebolavirus - Gabon (1994-1997) null http://purl.obolibrary.org/obo/NCBITaxon_128947 node NCBITaxon_285720 Senecio cambrensis null http://purl.obolibrary.org/obo/NCBITaxon_285720 node EFO_0008470 dietary potassium intake measurement null http://www.ebi.ac.uk/efo/EFO_0008470 node EFO_0008265 platelet-derived growth factor receptor beta measurement null http://www.ebi.ac.uk/efo/EFO_0008265 node EFO_0007901 hepcidin:ferritin ratio null http://www.ebi.ac.uk/efo/EFO_0007901 node Orphanet_68385 Neurometabolic disease null http://www.orpha.net/ORDO/Orphanet_68385 node Orphanet_90309 Ehlers-Danlos syndrome type 1 null http://www.orpha.net/ORDO/Orphanet_90309 node HP_0000098 Tall stature null http://purl.obolibrary.org/obo/HP_0000098 node EFO_0002840 N231 null http://www.ebi.ac.uk/efo/EFO_0002840 node MONDO_0001152 amnestic disorder null http://purl.obolibrary.org/obo/MONDO_0001152 node CHEBI_34682 diazinon null http://purl.obolibrary.org/obo/CHEBI_34682 node Orphanet_251290 Parietal foramina with cleidocranial dysplasia null http://www.orpha.net/ORDO/Orphanet_251290 node Orphanet_308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature null http://www.orpha.net/ORDO/Orphanet_308031 node EFO_0008969 THS-seq null http://www.ebi.ac.uk/efo/EFO_0008969 node Orphanet_263714 X chromosome number anomaly null http://www.orpha.net/ORDO/Orphanet_263714 node HP_0000520 Proptosis Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. http://purl.obolibrary.org/obo/HP_0000520 node EFO_0008530 kynurenine:tryptophan ratio null http://www.ebi.ac.uk/efo/EFO_0008530 node EFO_0009326 brain growth measurement null http://www.ebi.ac.uk/efo/EFO_0009326 node EFO_0008353 cellular adhesion molecule measurement null http://www.ebi.ac.uk/efo/EFO_0008353 node EFO_0002957 2102Ep null http://www.ebi.ac.uk/efo/EFO_0002957 node CHEBI_51065 dopamine agonist null http://purl.obolibrary.org/obo/CHEBI_51065 node EFO_0004199 dysplastic nevus null http://www.ebi.ac.uk/efo/EFO_0004199 node CHEBI_50138 1-(2,4-dichlorobenzyl)-1H-indazole-3-carboxylic acid null http://purl.obolibrary.org/obo/CHEBI_50138 node HP_0002066 Gait ataxia null http://purl.obolibrary.org/obo/HP_0002066 node Orphanet_99832 Resistance to thyrotropin-releasing hormone syndrome null http://www.orpha.net/ORDO/Orphanet_99832 node EFO_0006428 HCC1534 null http://www.ebi.ac.uk/efo/EFO_0006428 node EFO_0000894 obsolete_parasympathetic nervous system null http://www.ebi.ac.uk/efo/EFO_0000894 node MONDO_0009652 mucolipidosis type III gamma null http://purl.obolibrary.org/obo/MONDO_0009652 node Orphanet_397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome null http://www.orpha.net/ORDO/Orphanet_397744 node MONDO_0000108 bacteremia, susceptibility null http://purl.obolibrary.org/obo/MONDO_0000108 node Orphanet_352734 Minimal pigment oculocutaneous albinism type 1 null http://www.orpha.net/ORDO/Orphanet_352734 node NCBITaxon_1613 Lactobacillus fermentum null http://purl.obolibrary.org/obo/NCBITaxon_1613 node MONDO_0030007 combined oxidative phosphorylation deficiency 41 null http://purl.obolibrary.org/obo/MONDO_0030007 node Orphanet_210163 Congenital lethal myopathy, Compton-North type null http://www.orpha.net/ORDO/Orphanet_210163 node Orphanet_319182 Wiedemann-Steiner syndrome null http://www.orpha.net/ORDO/Orphanet_319182 node EFO_0002564 embryonic day 13.5 null http://www.ebi.ac.uk/efo/EFO_0002564 node HP_0005230 Biliary tract obstruction null http://purl.obolibrary.org/obo/HP_0005230 node EFO_0009414 CCL17 measurement null http://www.ebi.ac.uk/efo/EFO_0009414 node EFO_0009209 Hemoglobin A to Total Hemoglobin Ratio Measurement null http://www.ebi.ac.uk/efo/EFO_0009209 node EFO_0008441 full length single cell RNA sequencing null http://www.ebi.ac.uk/efo/EFO_0008441 node EFO_0004287 ventricular fibrillation null http://www.ebi.ac.uk/efo/EFO_0004287 node EFO_0000982 obsolete_epididymus null http://www.ebi.ac.uk/efo/EFO_0000982 node MONDO_0002730 childhood kidney neoplasm null http://purl.obolibrary.org/obo/MONDO_0002730 node Orphanet_79329 MGAT2-CDG null http://www.orpha.net/ORDO/Orphanet_79329 node Orphanet_293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy null http://www.orpha.net/ORDO/Orphanet_293964 node Orphanet_369886 Homozygous 2p21 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_369886 node EFO_1001347 Herpes Labialis null http://www.ebi.ac.uk/efo/EFO_1001347 node Orphanet_1568 X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures Editor note: check relationship to friend syndrome http://www.orpha.net/ORDO/Orphanet_1568 node EFO_0000479 essential thrombocythemia null http://www.ebi.ac.uk/efo/EFO_0000479 node CHEBI_66848 phosphatidylcholine 32:2 null http://purl.obolibrary.org/obo/CHEBI_66848 node EFO_0003347 obsolete_hypopharynx anlage null http://www.ebi.ac.uk/efo/EFO_0003347 node MONDO_0004695 liver lymphoma null http://purl.obolibrary.org/obo/MONDO_0004695 node EFO_0001010 lateral root meristem null http://www.ebi.ac.uk/efo/EFO_0001010 node NCBITaxon_67771 Callipepla californica null http://purl.obolibrary.org/obo/NCBITaxon_67771 node Orphanet_284814 Disorder of phenylalanine metabolism null http://www.orpha.net/ORDO/Orphanet_284814 node MONDO_0002150 hypothalamic disease null http://purl.obolibrary.org/obo/MONDO_0002150 node Orphanet_216820 Osteogenesis imperfecta type 4 null http://www.orpha.net/ORDO/Orphanet_216820 node UBERON_0007124 pharyngeal pouch 3 null http://purl.obolibrary.org/obo/UBERON_0007124 node MONDO_0002631 conventional osteosarcoma null http://purl.obolibrary.org/obo/MONDO_0002631 node EFO_0004610 acute lung injury null http://www.ebi.ac.uk/efo/EFO_0004610 node CHEBI_6472 lincomycin null http://purl.obolibrary.org/obo/CHEBI_6472 node EFO_1001435 tenosynovitis null http://www.ebi.ac.uk/efo/EFO_1001435 node FBbt_00017003 visceral branch primordium null http://purl.obolibrary.org/obo/FBbt_00017003 node EFO_0005865 embryonic stage 6 Temporal ordering number - 230. http://www.ebi.ac.uk/efo/EFO_0005865 node EFO_0004938 T1 tumor stage null http://www.ebi.ac.uk/efo/EFO_0004938 node CLO_0014371 GM17225 null http://purl.obolibrary.org/obo/CLO_0014371 node EFO_1001248 non-alcoholic fatty liver null http://www.ebi.ac.uk/efo/EFO_1001248 node MONDO_0014603 autosomal dominant nonsyndromic deafness 40 null http://purl.obolibrary.org/obo/MONDO_0014603 node EFO_0005678 hippocampal sclerosis of aging null http://www.ebi.ac.uk/efo/EFO_0005678 node Orphanet_238557 Chuvash erythrocytosis null http://www.orpha.net/ORDO/Orphanet_238557 node MONDO_0004596 cor pulmonale null http://purl.obolibrary.org/obo/MONDO_0004596 node MONDO_0007817 IgE responsiveness, atopic null http://purl.obolibrary.org/obo/MONDO_0007817 node EFO_0007983 asymptomatic neurocognitive impairment null http://www.ebi.ac.uk/efo/EFO_0007983 node Orphanet_95494 Combined pituitary hormone deficiencies, genetic forms null http://www.orpha.net/ORDO/Orphanet_95494 node NCBITaxon_342110 Ralstonia solanacearum UW551 null http://purl.obolibrary.org/obo/NCBITaxon_342110 node EFO_0003042 H1-hESC null http://www.ebi.ac.uk/efo/EFO_0003042 node EFO_1000513 Salivary Gland Acinic Cell Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000513 node Orphanet_295032 Congenital elbow dislocation null http://www.orpha.net/ORDO/Orphanet_295032 node EFO_1000336 Lung Sarcomatoid Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000336 node EFO_0010228 phosphatidylethanolamine measurement null http://www.ebi.ac.uk/efo/EFO_0010228 node Orphanet_98987 Cataract, Hutterite type null http://www.orpha.net/ORDO/Orphanet_98987 node MONDO_0018545 primary immunodeficiency with predisposition to severe viral infection null http://purl.obolibrary.org/obo/MONDO_0018545 node NCBITaxon_34280 Gossypium longicalyx null http://purl.obolibrary.org/obo/NCBITaxon_34280 node EFO_0003605 obsolete_trunk neural crest null http://www.ebi.ac.uk/efo/EFO_0003605 node Orphanet_295167 Postaxial polydactyly type B, unilateral null http://www.orpha.net/ORDO/Orphanet_295167 node EFO_0005297 Granulomatosis with Polyangiitis null http://www.ebi.ac.uk/efo/EFO_0005297 node EFO_1000219 Digestive System Mixed Adenoneuroendocrine Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000219 node Orphanet_19 2-hydroxyglutaric aciduria null http://www.orpha.net/ORDO/Orphanet_19 node Orphanet_79292 Fish-eye disease null http://www.orpha.net/ORDO/Orphanet_79292 node EFO_0006292 S462 null http://www.ebi.ac.uk/efo/EFO_0006292 node EFO_0010316 middle temporal gyrus volume measurement null http://www.ebi.ac.uk/efo/EFO_0010316 node CLO_0016600 GM17762 null http://purl.obolibrary.org/obo/CLO_0016600 node EFO_0010901 anti-herpes simplex virus 6 antibody measurement null http://www.ebi.ac.uk/efo/EFO_0010901 node EFO_0009699 foot muscle strength measurement null http://www.ebi.ac.uk/efo/EFO_0009699 node EFO_0006978 Kn-0 null http://www.ebi.ac.uk/efo/EFO_0006978 node UBERON_0003476 respiratory system venous blood vessel null http://purl.obolibrary.org/obo/UBERON_0003476 node Orphanet_98360 Constitutional anemia due to iron metabolism disorder null http://www.orpha.net/ORDO/Orphanet_98360 node Orphanet_2843 Pentosuria null http://www.orpha.net/ORDO/Orphanet_2843 node EFO_1000003 Zinc deficiency null http://www.ebi.ac.uk/efo/EFO_1000003 node CHEBI_9674 triazolam null http://purl.obolibrary.org/obo/CHEBI_9674 node EFO_0004433 454 GS FLX Titanium sequencer null http://www.ebi.ac.uk/efo/EFO_0004433 node EFO_0003506 obsolete_posterior lateral line nerve null http://www.ebi.ac.uk/efo/EFO_0003506 node EO_0007319 warm/hot air temperature regimen null http://purl.obolibrary.org/obo/EO_0007319 node Orphanet_401942 Familial median cleft of the upper and lower lips null http://www.orpha.net/ORDO/Orphanet_401942 node EFO_0010100 multisite chronic pain null http://www.ebi.ac.uk/efo/EFO_0010100 node CL_0002411 Vgamma1.1-positive, Vdelta6.3-negative thymocyte null http://purl.obolibrary.org/obo/CL_0002411 node EFO_0007148 aortic valve insufficiency null http://www.ebi.ac.uk/efo/EFO_0007148 node CHEBI_73034 O-succinylcarnitine null http://purl.obolibrary.org/obo/CHEBI_73034 node Orphanet_85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type null http://www.orpha.net/ORDO/Orphanet_85172 node Orphanet_79193 Disorder of pyrimidine metabolism null http://www.orpha.net/ORDO/Orphanet_79193 node MONDO_0021115 luminal B breast carcinoma null http://purl.obolibrary.org/obo/MONDO_0021115 node Orphanet_247775 Classic Mayer-Rokitansky-Küster-Hauser syndrome null http://www.orpha.net/ORDO/Orphanet_247775 node EFO_0010802 tumor necrosis factor receptor superfamily member 9 measurement null http://www.ebi.ac.uk/efo/EFO_0010802 node EFO_0006398 G120 null http://www.ebi.ac.uk/efo/EFO_0006398 node CL_0000700 dopaminergic neuron null http://purl.obolibrary.org/obo/CL_0000700 node Orphanet_2005 Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia null http://www.orpha.net/ORDO/Orphanet_2005 node EFO_0007236 diffuse idiopathic skeletal hyperostosis null http://www.ebi.ac.uk/efo/EFO_0007236 node UBERON_0004124 myocardium trabecular layer null http://purl.obolibrary.org/obo/UBERON_0004124 node CHEBI_37890 alpha-adrenergic antagonist null http://purl.obolibrary.org/obo/CHEBI_37890 node CHEBI_48991 7-methylxanthine null http://purl.obolibrary.org/obo/CHEBI_48991 node NCBITaxon_59691 Arabidopsis lyrata subsp. petraea null http://purl.obolibrary.org/obo/NCBITaxon_59691 node Orphanet_63259 Iniencephaly null http://www.orpha.net/ORDO/Orphanet_63259 node MONDO_0004884 eye degenerative disease null http://purl.obolibrary.org/obo/MONDO_0004884 node Orphanet_324723 Hereditary cerebral hemorrhage with amyloidosis, Arctic type null http://www.orpha.net/ORDO/Orphanet_324723 node EFO_0008865 Pol II CLIP null http://www.ebi.ac.uk/efo/EFO_0008865 node MONDO_0000365 primary congenital glaucoma (disease) null http://purl.obolibrary.org/obo/MONDO_0000365 node EFO_0006486 SET-2 null http://www.ebi.ac.uk/efo/EFO_0006486 node MONDO_0021016 channelopathy null http://purl.obolibrary.org/obo/MONDO_0021016 node EFO_0009707 fractures, ununited null http://www.ebi.ac.uk/efo/EFO_0009707 node MONDO_0000188 GLUT1 deficiency syndrome Editor note: note that in contrast to other phenotypic series, all members are caused by the same gene, SLC2A1 http://purl.obolibrary.org/obo/MONDO_0000188 node EFO_0009017 Autosomal recessive spastic paraplegia type 57 null http://www.ebi.ac.uk/efo/EFO_0009017 node MONDO_0030087 diabetes mellitus, permanent neonatal 2 null http://purl.obolibrary.org/obo/MONDO_0030087 node EFO_0003599 obsolete_slow muscle cell somite 4 null http://www.ebi.ac.uk/efo/EFO_0003599 node EFO_0007119 Sasang constitutional medicine type null http://www.ebi.ac.uk/efo/EFO_0007119 node CHEBI_11596 2-hydroxyglutarate(2-) null http://purl.obolibrary.org/obo/CHEBI_11596 node EFO_0009289 left ventricular mass null http://www.ebi.ac.uk/efo/EFO_0009289 node HP_0100738 Abnormal eating behavior Note that this HPO term refers to an abnormal eating habit but does not directly refer to an eating disorder, which is a psychological disorder that is characterized by one or more abnormal eating behaviors. http://purl.obolibrary.org/obo/HP_0100738 node CL_0002008 CD34-positive, CD38-positive eosinophil progenitor cell Markers are associated with human cells. http://purl.obolibrary.org/obo/CL_0002008 node MONDO_0002351 glottis cancer null http://purl.obolibrary.org/obo/MONDO_0002351 node EFO_1000918 endolymphatic hydrops null http://www.ebi.ac.uk/efo/EFO_1000918 node EFO_0008267 polymeric immunoglobulin receptor measurement null http://www.ebi.ac.uk/efo/EFO_0008267 node EFO_0008748 FRT-Seq null http://www.ebi.ac.uk/efo/EFO_0008748 node MONDO_0014789 CCDC115-CDG null http://purl.obolibrary.org/obo/MONDO_0014789 node EFO_1000184 Colon Inflammatory Polyp null http://www.ebi.ac.uk/efo/EFO_1000184 node Orphanet_99706 Progeria-associated arthropathy null http://www.orpha.net/ORDO/Orphanet_99706 node EFO_0009105 high altitude adaptation null http://www.ebi.ac.uk/efo/EFO_0009105 node EFO_0003687 obsolete_primitive olfactory epithelium null http://www.ebi.ac.uk/efo/EFO_0003687 node EFO_0000768 idiopathic pulmonary fibrosis null http://www.ebi.ac.uk/efo/EFO_0000768 node FBbt_00005746 embryonic leading edge cell null http://purl.obolibrary.org/obo/FBbt_00005746 node EFO_0008532 clinically amyopathic dermatomyositis null http://www.ebi.ac.uk/efo/EFO_0008532 node Orphanet_79225 Sphingolipidosis null http://www.orpha.net/ORDO/Orphanet_79225 node EFO_1000886 cutaneous mastocytosis null http://www.ebi.ac.uk/efo/EFO_1000886 node MONDO_0002234 vaginitis (disease) null http://purl.obolibrary.org/obo/MONDO_0002234 node EFO_0008355 dietary heme iron intake measurement null http://www.ebi.ac.uk/efo/EFO_0008355 node EFO_1000699 fibroepithelial polyp of the anus null http://www.ebi.ac.uk/efo/EFO_1000699 node HP_0001290 Generalized hypotonia null http://purl.obolibrary.org/obo/HP_0001290 node Orphanet_569 Familial or sporadic hemiplegic migraine null http://www.orpha.net/ORDO/Orphanet_569 node EFO_0000375 array control spike calibration null http://www.ebi.ac.uk/efo/EFO_0000375 node EFO_1001056 myxosarcoma null http://www.ebi.ac.uk/efo/EFO_1001056 node EFO_0004690 obsolete_short QT syndrome null http://www.ebi.ac.uk/efo/EFO_0004690 node MONDO_0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency null http://purl.obolibrary.org/obo/MONDO_0014206 node EFO_1000085 Angiolipoma null http://www.ebi.ac.uk/efo/EFO_1000085 node Orphanet_71862 Retinal dystrophy Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same http://www.orpha.net/ORDO/Orphanet_71862 node Orphanet_217052 Early-onset non-syndromic cataract Not in the OMIM series. http://www.orpha.net/ORDO/Orphanet_217052 node EFO_1000670 anhidrosis null http://www.ebi.ac.uk/efo/EFO_1000670 node EFO_0008161 insulin-like growth factor-binding protein 7 measurement null http://www.ebi.ac.uk/efo/EFO_0008161 node Orphanet_247794 Juvenile cataract - microcornea - renal glucosuria null http://www.orpha.net/ORDO/Orphanet_247794 node EFO_0008620 Polycystic Kidney Disease null http://www.ebi.ac.uk/efo/EFO_0008620 node HP_0001268 Mental deterioration null http://purl.obolibrary.org/obo/HP_0001268 node Orphanet_183481 Genetic mixed dermis disorder null http://www.orpha.net/ORDO/Orphanet_183481 node CHEBI_90452 lysophosphatidylethanolamine 16:0 null http://purl.obolibrary.org/obo/CHEBI_90452 node Orphanet_93423 Sulfation-related bone disorder null http://www.orpha.net/ORDO/Orphanet_93423 node Orphanet_657 Congenital isolated hyperinsulinism null http://www.orpha.net/ORDO/Orphanet_657 node NCBITaxon_2242 Halobacterium salinarum null http://purl.obolibrary.org/obo/NCBITaxon_2242 node Orphanet_176 Non-rhizomelic chondrodysplasia punctata null http://www.orpha.net/ORDO/Orphanet_176 node EFO_1000787 osteoarthritis, spine null http://www.ebi.ac.uk/efo/EFO_1000787 node CHEBI_35420 pregnenolone sulfate null http://purl.obolibrary.org/obo/CHEBI_35420 node MONDO_0021197 disease by cellular component affected null http://purl.obolibrary.org/obo/MONDO_0021197 node EFO_0001427 case control design null http://www.ebi.ac.uk/efo/EFO_0001427 node EFO_0000258 antennal primordium2 null http://www.ebi.ac.uk/efo/EFO_0000258 node MONDO_0020674 vascular insufficiency disorder null http://purl.obolibrary.org/obo/MONDO_0020674 node Orphanet_294988 Congenital absence/hypoplasia of thumb null http://www.orpha.net/ORDO/Orphanet_294988 node EFO_0010884 HG03469 null http://www.ebi.ac.uk/efo/EFO_0010884 node CLO_0033628 GM13811 null http://purl.obolibrary.org/obo/CLO_0033628 node EFO_0005369 Granta-519 null http://www.ebi.ac.uk/efo/EFO_0005369 node Orphanet_1745 Distal trisomy 6p null http://www.orpha.net/ORDO/Orphanet_1745 node EFO_0008044 C-C motif chemokine 16 measurement null http://www.ebi.ac.uk/efo/EFO_0008044 node EFO_1000571 Testicular Sclerosing Sertoli Cell Tumor null http://www.ebi.ac.uk/efo/EFO_1000571 node Orphanet_179494 Obesity due to leptin receptor gene deficiency null http://www.orpha.net/ORDO/Orphanet_179494 node Orphanet_139380 Recessive hereditary methemoglobinemia type 2 null http://www.orpha.net/ORDO/Orphanet_139380 node Orphanet_101 Dentatorubral pallidoluysian atrophy null http://www.orpha.net/ORDO/Orphanet_101 node EFO_1001027 lymphangiomyoma null http://www.ebi.ac.uk/efo/EFO_1001027 node EFO_0002255 NCI-H1563 null http://www.ebi.ac.uk/efo/EFO_0002255 node EFO_0001328 B6.Cg-Tg(SOD1-G93A)1Gur/J null http://www.ebi.ac.uk/efo/EFO_0001328 node EFO_0005457 SK-MM-1 null http://www.ebi.ac.uk/efo/EFO_0005457 node MONDO_0024885 malignant ovarian serous tumor null http://purl.obolibrary.org/obo/MONDO_0024885 node CL_0000233 platelet Platelets are reportedly CCR1-positive, CCR2-negative, CCR3-positive, CCR4-positive, CCR5-negative, CCR6-negative, CCR7-negative, CCR8-negative, CCR9-negative, CCR10-negative, CD16-positive, CD23-positive, CD32-positive, CD40-positive, CD41-positive CD42-positive, CD61-positive, CD62P-positive, CD64-positive, CD89-positive, CD102-positive, CD147-positive (activated platelets), CD154-positive (activated platelets), CD162-positive, CD209, CD282-positive, CD284-positive, CD289-positive, CD181-negative, CD182-negative, CD183-negative, CD184-positive, CLEC2-positive, GPVI-positive, JAMC-positive, PAR1-positive, PAR2-negative, PAR3-positive, PAR4-positive, TSP1-positive, and TXA2R-positive. Platelets can reportedly produce CCL2, CCL3, CCL5, CCL7, CCL17, CD40L, CXCL1, CXCL4, CXCL4L1, CXCL5, CXCL7, CXCL8, CXCL12, EGF, factor V, factor VII, factor XI, factor XIII, bFGF, histamine, IGF-1, IL-1beta, PAI-1, PDGF, plasminogen, protein S, serotonin, TGF-beta, TFPI, VEGF, and vWF. http://purl.obolibrary.org/obo/CL_0000233 node Orphanet_1032 Hyperdibasic aminoaciduria type 1 null http://www.orpha.net/ORDO/Orphanet_1032 node CL_0000935 CD4-negative, CD8-negative, alpha-beta intraepithelial T cell null http://purl.obolibrary.org/obo/CL_0000935 node Orphanet_271844 Genetic urogenital tumor null http://www.orpha.net/ORDO/Orphanet_271844 node EFO_0004241 obsolete_Hirschsprung disease null http://www.ebi.ac.uk/efo/EFO_0004241 node EFO_0003109 obsolete_alopecia null http://www.ebi.ac.uk/efo/EFO_0003109 node MONDO_0024492 tumor grade 2, general grading system null http://purl.obolibrary.org/obo/MONDO_0024492 node GO_0031967 organelle envelope null http://purl.obolibrary.org/obo/GO_0031967 node EFO_0002343 SNU1 null http://www.ebi.ac.uk/efo/EFO_0002343 node MONDO_0004001 compartment syndrome null http://purl.obolibrary.org/obo/MONDO_0004001 node Orphanet_2180 Hydrocephalus - costovertebral dysplasia - Sprengel anomaly null http://www.orpha.net/ORDO/Orphanet_2180 node OBI_1000023 cell culture supernatant null http://purl.obolibrary.org/obo/OBI_1000023 node HP_0000023 Inguinal hernia Inguinal hernia appears as a bulge in the groin. http://purl.obolibrary.org/obo/HP_0000023 node EFO_0010180 droplet-based cell isolation null http://www.ebi.ac.uk/efo/EFO_0010180 node EFO_0007716 carotid artery measurement null http://www.ebi.ac.uk/efo/EFO_0007716 node CL_0000542 lymphocyte Editors note: consider adding taxon constraint to vertebrata (PMID:18025161) http://purl.obolibrary.org/obo/CL_0000542 node EFO_0006687 NCI-H2803 null http://www.ebi.ac.uk/efo/EFO_0006687 node EFO_0007529 tuberculous peritonitis null http://www.ebi.ac.uk/efo/EFO_0007529 node EFO_0004124 obsolete_Darier's disease null http://www.ebi.ac.uk/efo/EFO_0004124 node UBERON_0007283 presumptive shield null http://purl.obolibrary.org/obo/UBERON_0007283 node CHEBI_63921 2-butoxyethanol null http://purl.obolibrary.org/obo/CHEBI_63921 node Orphanet_206653 Autosomal recessive distal myopathy null http://www.orpha.net/ORDO/Orphanet_206653 node Orphanet_206448 Adult Krabbe disease null http://www.orpha.net/ORDO/Orphanet_206448 node Orphanet_86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome null http://www.orpha.net/ORDO/Orphanet_86918 node EFO_0008721 Drop-ChIP null http://www.ebi.ac.uk/efo/EFO_0008721 node Orphanet_251370 Sickle cell - hemoglobin D disease null http://www.orpha.net/ORDO/Orphanet_251370 node EFO_0007617 pure tone hearing measurement null http://www.ebi.ac.uk/efo/EFO_0007617 node EFO_0004212 Keloid null http://www.ebi.ac.uk/efo/EFO_0004212 node EFO_0005151 Col-3 null http://www.ebi.ac.uk/efo/EFO_0005151 node UO_0000273 milligram per liter null http://purl.obolibrary.org/obo/UO_0000273 node UBERON_0001997 olfactory epithelium Genes: V1Rs, Trpc2 present in lamprey http://purl.obolibrary.org/obo/UBERON_0001997 node CL_0002506 liver CD103-positive dendritic cell null http://purl.obolibrary.org/obo/CL_0002506 node Orphanet_248095 Primary hypertrophic osteoarthropathy null http://www.orpha.net/ORDO/Orphanet_248095 node EFO_0009097 positive domain measurement null http://www.ebi.ac.uk/efo/EFO_0009097 node NCBITaxon_28985 Kluyveromyces lactis null http://purl.obolibrary.org/obo/NCBITaxon_28985 node NCBITaxon_93934 Coturnix japonica null http://purl.obolibrary.org/obo/NCBITaxon_93934 node Orphanet_2704 Ochoa syndrome null http://www.orpha.net/ORDO/Orphanet_2704 node MONDO_0014850 retinitis pigmentosa and erythrocytic microcytosis null http://purl.obolibrary.org/obo/MONDO_0014850 node EFO_0009571 urinary tract obstruction null http://www.ebi.ac.uk/efo/EFO_0009571 node Orphanet_79195 Sterol biosynthesis disorder null http://www.orpha.net/ORDO/Orphanet_79195 node Orphanet_99951 Charcot-Marie-Tooth disease type 4E Not part of the OMIM series 118220 but maybe it should be? Alternate titles CHARCOT-MARIE-Tooth DISEASE, TYPE 4E; CMT4E and CHARCOT-MARIE-Tooth NEUROPATHY, TYPE 4E. http://www.orpha.net/ORDO/Orphanet_99951 node HP_0000938 Osteopenia null http://purl.obolibrary.org/obo/HP_0000938 node EFO_0005062 glass substrate null http://www.ebi.ac.uk/efo/EFO_0005062 node EFO_0009185 heart rate response to recovery post exercise null http://www.ebi.ac.uk/efo/EFO_0009185 node MONDO_0020173 benign tumor of palpebral epidermis null http://purl.obolibrary.org/obo/MONDO_0020173 node CLO_0011235 GM08930 null http://purl.obolibrary.org/obo/CLO_0011235 node NCBITaxon_5127 Gibberella fujikuroi null http://purl.obolibrary.org/obo/NCBITaxon_5127 node Orphanet_581 Mucopolysaccharidosis type 3 null http://www.orpha.net/ORDO/Orphanet_581 node Orphanet_275766 Idiopathic pulmonary arterial hypertension null http://www.orpha.net/ORDO/Orphanet_275766 node EFO_1000760 rosacea null http://www.ebi.ac.uk/efo/EFO_1000760 node HP_0000517 Abnormality of the lens null http://purl.obolibrary.org/obo/HP_0000517 node EFO_1001801 intracranial subdural hematoma null http://www.ebi.ac.uk/efo/EFO_1001801 node EFO_0004823 perception of facial expression null http://www.ebi.ac.uk/efo/EFO_0004823 node EFO_0003852 developmental disability null http://www.ebi.ac.uk/efo/EFO_0003852 node EFO_0000933 obsolete_gill null http://www.ebi.ac.uk/efo/EFO_0000933 node EFO_0001925 obsolete_gum null http://www.ebi.ac.uk/efo/EFO_0001925 node HP_0000690 Agenesis of maxillary lateral incisor null http://purl.obolibrary.org/obo/HP_0000690 node MONDO_0032908 CEBALID syndrome null http://purl.obolibrary.org/obo/MONDO_0032908 node Orphanet_98912 Late-onset distal myopathy, Markesbery-Griggs type null http://www.orpha.net/ORDO/Orphanet_98912 node EFO_0001124 GM11992 null http://www.ebi.ac.uk/efo/EFO_0001124 node Orphanet_734 Alpha delta granule deficiency null http://www.orpha.net/ORDO/Orphanet_734 node EFO_0004791 tissue plasminogen activator measurement null http://www.ebi.ac.uk/efo/EFO_0004791 node EFO_0004911 familial hypercholesterolemia PMID:26076948 http://www.ebi.ac.uk/efo/EFO_0004911 node EFO_0000540 immune system disease null http://www.ebi.ac.uk/efo/EFO_0000540 node EFO_0007001 dehydroepiandrosterone sulphate measurement null http://www.ebi.ac.uk/efo/EFO_0007001 node Orphanet_98759 Spinocerebellar ataxia type 17 null http://www.orpha.net/ORDO/Orphanet_98759 node UBERON_0002135 mitral valve null http://purl.obolibrary.org/obo/UBERON_0002135 node HP_0001620 High pitched voice null http://purl.obolibrary.org/obo/HP_0001620 node EFO_0010599 ST2 protein measurement null http://www.ebi.ac.uk/efo/EFO_0010599 node EFO_0002063 ITM-E6E7-ST null http://www.ebi.ac.uk/efo/EFO_0002063 node Orphanet_822 Hereditary spherocytosis null http://www.orpha.net/ORDO/Orphanet_822 node EFO_0005721 SK-N-DZ null http://www.ebi.ac.uk/efo/EFO_0005721 node Orphanet_72 Angelman syndrome null http://www.orpha.net/ORDO/Orphanet_72 node EFO_0004692 obsolete_Catecholaminergic polymorphic ventricular tachycardia null http://www.ebi.ac.uk/efo/EFO_0004692 node CHEBI_91066 sphingomyelin 22:0 null http://purl.obolibrary.org/obo/CHEBI_91066 node Orphanet_89840 Junctional epidermolysis bullosa, non-Herlitz type null http://www.orpha.net/ORDO/Orphanet_89840 node EFO_1000609 Ureter Carcinoma null http://www.ebi.ac.uk/efo/EFO_1000609 node Orphanet_261534 49,XXXYY syndrome null http://www.orpha.net/ORDO/Orphanet_261534 node EFO_0010706 central venous hepatic sinusoidal endothelial cell Made as a placeholder for AE anatomagrams, term should be requested in CL. http://www.ebi.ac.uk/efo/EFO_0010706 node MONDO_0001770 gastrin secretion abnormality null http://purl.obolibrary.org/obo/MONDO_0001770 node MONDO_0021374 neoplasm of cerebral hemisphere null http://purl.obolibrary.org/obo/MONDO_0021374 node Orphanet_284984 Aneurysm - osteoarthritis syndrome null http://www.orpha.net/ORDO/Orphanet_284984 node CLO_0014410 GM17240 null http://purl.obolibrary.org/obo/CLO_0014410 node Orphanet_295140 Hyperphalangy, unilateral null http://www.orpha.net/ORDO/Orphanet_295140 node MONDO_0004822 bronchiectasis null http://purl.obolibrary.org/obo/MONDO_0004822 node Orphanet_95720 Thyroid hypoplasia null http://www.orpha.net/ORDO/Orphanet_95720 node NCBITaxon_79923 Clonorchis sinensis null http://purl.obolibrary.org/obo/NCBITaxon_79923 node NCBITaxon_9545 Macaca nemestrina null http://purl.obolibrary.org/obo/NCBITaxon_9545 node NCBITaxon_243230 Deinococcus radiodurans R1 null http://purl.obolibrary.org/obo/NCBITaxon_243230 node EFO_0006543 BICR 78 null http://www.ebi.ac.uk/efo/EFO_0006543 node EFO_0003160 obsolete_Filipino null http://www.ebi.ac.uk/efo/EFO_0003160 node Orphanet_99004 Fundus pulverulentus null http://www.orpha.net/ORDO/Orphanet_99004 node Orphanet_295118 Adactyly of foot, bilateral null http://www.orpha.net/ORDO/Orphanet_295118 node Orphanet_289513 12q15q21.1 microdeletion syndrome null http://www.orpha.net/ORDO/Orphanet_289513 node EFO_1001437 Tracheal neoplasm null http://www.ebi.ac.uk/efo/EFO_1001437 node EFO_0002034 G1E null http://www.ebi.ac.uk/efo/EFO_0002034 node EFO_0000066 CS57705 null http://www.ebi.ac.uk/efo/EFO_0000066 node EFO_0006951 ototoxicity null http://www.ebi.ac.uk/efo/EFO_0006951 node PO_0007106 LP.03 three leaves visible stage null http://purl.obolibrary.org/obo/PO_0007106 node Orphanet_1580 Distal monosomy 10p null http://www.orpha.net/ORDO/Orphanet_1580 node Orphanet_85198 Dysspondyloenchondromatosis null http://www.orpha.net/ORDO/Orphanet_85198 node NCBITaxon_34277 Gossypium tomentosum null http://purl.obolibrary.org/obo/NCBITaxon_34277 node MONDO_0016748 hemangioblastoma null http://purl.obolibrary.org/obo/MONDO_0016748 node Orphanet_169361 Immune dysregulation disease with immunodeficiency null http://www.orpha.net/ORDO/Orphanet_169361 node EFO_0007580 blood mercury measurement null http://www.ebi.ac.uk/efo/EFO_0007580 node EFO_0006631 KYSE-510 null http://www.ebi.ac.uk/efo/EFO_0006631 node CHEBI_50292 cadmium sulfate null http://purl.obolibrary.org/obo/CHEBI_50292 node Orphanet_289601 Hereditary arterial and articular multiple calcification syndrome null http://www.orpha.net/ORDO/Orphanet_289601 node EFO_0010094 grapefruit juice consumption measurement null http://www.ebi.ac.uk/efo/EFO_0010094 node MONDO_0007771 hyperpigmentation with or without hypopigmentation, familial progressive null http://purl.obolibrary.org/obo/MONDO_0007771 node EFO_0000154 CS57875 null http://www.ebi.ac.uk/efo/EFO_0000154 node EFO_0007393 neuroaspergillosis null http://www.ebi.ac.uk/efo/EFO_0007393 node Orphanet_166463 Epilepsy syndrome null http://www.orpha.net/ORDO/Orphanet_166463 node EFO_0006852 metastatic null http://www.ebi.ac.uk/efo/EFO_0006852 node OBI_0400109 homogenizer null http://purl.obolibrary.org/obo/OBI_0400109 node NCBITaxon_43256 Harpagifer antarcticus null http://purl.obolibrary.org/obo/NCBITaxon_43256 node NCBITaxon_6945 Ixodes scapularis null http://purl.obolibrary.org/obo/NCBITaxon_6945 node Orphanet_85286 X-linked intellectual disability, Shashi type null http://www.orpha.net/ORDO/Orphanet_85286 node MONDO_0013713 dengue virus, susceptibility to null http://purl.obolibrary.org/obo/MONDO_0013713 node MONDO_0021047 breast phyllodes tumor null http://purl.obolibrary.org/obo/MONDO_0021047 node Orphanet_97249 Pontocerebellar hypoplasia type 3 null http://www.orpha.net/ORDO/Orphanet_97249 node CHEBI_64199 carmoxirole hydrochloride null http://purl.obolibrary.org/obo/CHEBI_64199 node EFO_0008259 phospholipase A2, membrane associated measurement null http://www.ebi.ac.uk/efo/EFO_0008259 node EFO_0010182 mouth pipette null http://www.ebi.ac.uk/efo/EFO_0010182 node Orphanet_183576 Genetic branchial arch or oral-acral syndrome null http://www.orpha.net/ORDO/Orphanet_183576 node EFO_0007481 septicemic plague null http://www.ebi.ac.uk/efo/EFO_0007481 node CL_0000080 circulating cell null http://purl.obolibrary.org/obo/CL_0000080 node Orphanet_3077 X-linked intellectual disability - psychosis - macroorchidism null http://www.orpha.net/ORDO/Orphanet_3077 node NCBITaxon_44271 Leishmania chagasi null http://purl.obolibrary.org/obo/NCBITaxon_44271 node NCBITaxon_47247 Lotus corniculatus null http://purl.obolibrary.org/obo/NCBITaxon_47247 node MONDO_0030060 neurodevelopmental disorder with language impairment and behavioral abnormalities null http://purl.obolibrary.org/obo/MONDO_0030060 node CLO_0017043 GM17736 null http://purl.obolibrary.org/obo/CLO_0017043 node EO_0007185 salt treatment This treatment may be used to simulate the growth conditions of sea coast regions and saline/sodic soils. http://purl.obolibrary.org/obo/EO_0007185 node EFO_0001674 placebo null http://www.ebi.ac.uk/efo/EFO_0001674 node Orphanet_90673 Hypothyroidism due to TSH receptor mutations null http://www.orpha.net/ORDO/Orphanet_90673 node HP_0003236 Elevated serum creatine kinase 'has part' some ('increased amount' and ('inheres in' some (IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal)) http://purl.obolibrary.org/obo/HP_0003236 node Orphanet_64752 Hereditary sensory and autonomic neuropathy type 5 null http://www.orpha.net/ORDO/Orphanet_64752 node EFO_0009262 nicotine dependence symptom count null http://www.ebi.ac.uk/efo/EFO_0009262 node Orphanet_93293 Okihiro syndrome null http://www.orpha.net/ORDO/Orphanet_93293 node CL_0001010 mature dermal dendritic cell Originally described in the dendritic cell ontology (DC_CL:0000023)(PMID:19243617). http://purl.obolibrary.org/obo/CL_0001010 node MONDO_0018401 female infertility due to an anomaly of ovarian function null http://purl.obolibrary.org/obo/MONDO_0018401 node BTO_0001383 alveolar bone null http://purl.obolibrary.org/obo/BTO_0001383 node EFO_0003660 obsolete_ventral mandibular arch null http://www.ebi.ac.uk/efo/EFO_0003660 node EFO_0009966 assay by long read sequencer null http://www.ebi.ac.uk/efo/EFO_0009966 node MONDO_0000110 bifid nose null http://purl.obolibrary.org/obo/MONDO_0000110 node HP_0000413 Atresia of the external auditory canal null http://purl.obolibrary.org/obo/HP_0000413 node MONDO_0002921 congenital structural myopathy null http://purl.obolibrary.org/obo/MONDO_0002921 node EFO_0009350 Anti-herpes simplex virus 2 IgG measurement null http://www.ebi.ac.uk/efo/EFO_0009350 node EFO_1000298 Hydatidiform Mole null http://www.ebi.ac.uk/efo/EFO_1000298 edge has_subclass http://www.ebi.ac.uk/efo/EFO_0001983 http://www.ebi.ac.uk/efo/EFO_0001037 edge has_subclass http://www.ebi.ac.uk/efo/EFO_0001983 http://purl.obolibrary.org/obo/PO_0020038 edge has_subclass http://www.ebi.ac.uk/efo/EFO_0001983 http://purl.obolibrary.org/obo/PO_0002000 edge has_subclass http://www.orpha.net/ORDO/Orphanet_93454 http://purl.obolibrary.org/obo/MONDO_0018681 edge has_subclass http://www.orpha.net/ORDO/Orphanet_93454 http://www.orpha.net/ORDO/Orphanet_3456 edge 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