Ehlers-Danlos syndrome, cardiac valvular type
B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio
Dysostosis with predominant vertebral and costal involvement
Non-syndromic male infertility due to sperm motility disorder
transient congenital hypothyroidism due to neonatal factor
Partial duplication of the long arm of chromosome 8
mature CD1a-positive dermal dendritic cell
Isolated focal cortical dysplasia type Ib
Beckwith-Wiedemann syndrome due to 11p15 microduplication
infantile hemangioma of rare localization
Benign childhood occipital epilepsy, Gastaut type
inferior temporal gyrus volume measurement
Osteoporosis - oculocutaneous hypopigmentation syndrome
diabetes mellitus type 2 associated cataract
X-linked intellectual disability, Golabi-Ito-Hall type
Hemoglobin A2 Prime to Total Hemoglobin Ratio Measurement
Spondyloepimetaphyseal dysplasia with joint laxity
Central polydactyly of fingers, unilateral
neurodevelopmental disorder with macrocephaly and with or without seizures
Cushing syndrome due to macronodular adrenal hyperplasia
leukemia inhibitory factor receptor measurement
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
genitourinary and/or brain malformation syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
neurodevelopmental, jaw, eye, and digital syndrome
Absent thumb - short stature - immunodeficiency
Hypospadias - intellectual disability, Goldblatt type
anti-Haemophilus influenzae type b polyribosylribitol phosphate IgG measurement
Microcephaly - polymicrogyria - corpus callosum agenesis
Uveal coloboma - cleft lip and palate - intellectual disability
mature CD14-positive dermal dendritic cell
obsolete_polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Congenital absence of thigh and lower leg with foot present, unilateral
Greater Middle Eastern  (Middle Eastern, North African or Persian)
combined oxidative phosphorylation deficiency 42
mitochondrial complex I deficiency, nuclear type
Metabolic disease due to other fatty acid oxidation disorder
negative regulation of circadian sleep/wake cycle, REM sleep
Pyruvate carboxylase deficiency, infantile form
Female restricted epilepsy with intellectual disability
Congenital primary megaureter, obstructed form
Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
amyotrophic lateral sclerosis, susceptibility to, 24
Pulmonary arterial hypertension associated with HIV infection
Disease with focal palmoplantar keratoderma as a major feature
Disease associated with non-acquired combined pituitary hormone deficiency
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
catecholaminergic polymorphic ventricular tachycardia 1
anti-herpes simplex virus 7 antibody measurement
Alopecia - intellectual disability - hypergonadotropic hypogonadism
Disorder of serine or glycine metabolism
proximal portion of circumflex branch of left coronary artery
integrin alpha-I: beta-1 complex measurement
Autosomal dominant optic atrophy and peripheral neuropathy
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
autosomal dominant nonsyndromic deafness 7
Autosomal recessive spastic paraplegia type 75
Developmental delay with autism spectrum disorder and gait instability
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
hereditary papillary renal cell carcinoma
Trigonocephaly - bifid nose - acral anomalies
programmed cell death 1 ligand 2 measurement
Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
obsolete_conventional clear cell renal carcinoma
Metabolic disease with intestinal involvement
purine nucleoside monophosphate biosynthetic process
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Hydrocephaly - tall stature - joint laxity
Microcornea - corectopia - macular hypoplasia
Disorder of peroxisomal alpha-, beta- and omega-oxidation
Otomandibular dysplasia associated with monogenic syndromes
mitochondrial complex 3 deficiency, nuclear type 10
Fatal infantile hypertonic myofibrillar myopathy
langerin-positive lymph node dendritic cell
decreased susceptibility to hepatitis C infection
Qualitative or quantitative defects of beta-sarcoglycan
Congenital disorder of glycosylation with dilated cardiomyopathy
Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
Non progressive epilepsy and/or ataxia with myoclonus as a major feature
isolated noncompaction of the ventricular myocardium
obsolete_behavior or behavioral disorder measurement
Combined oxidative phosphorylation defect type 8
type III hypersensitivity reaction disease
Kleefstra syndrome due to a point mutation
Microphthalmia with brain and digit anomalies
Pyruvate carboxylase deficiency, benign type
Centripetalis recessive dystrophic epidermolysis bullosa
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
ligation-mediated chromosome conformation capture assay
Craniosynostosis - anal anomalies - porokeratosis
X-linked intellectual disability, Siderius type
Severe X-linked intellectual disability, Gustavson type
Severe combined immunodeficiency due to DNA-PKcs deficiency
autoimmune thyroid disease, susceptibility to
Keratosis palmaris et plantaris - clinodactyly
syndromic diaphragmatic or thoracic malformation
Deafness - genital anomalies - metacarpal and metatarsal synostosis
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
tuberculin skin test reactivity measurement
abdominal aortic raised atherosclerotic lesion
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
arthritis disease activity score measurement
ATP binding cassette subfamily B member 6
Osteoporosis - macrocephaly - blindness - joint hyperlaxity
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Noonan syndrome and Noonan-related syndrome
Xeroderma pigmentosum complementation group F
Hemoglobin A2 to Total Hemoglobin Ratio Measurement
Congenital primary megaureter, refluxing form
neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Hypogonadotropic hypogonadism associated with other endocrinopathies
rare male fertility disorder with obstructive azoospermia
Sex chromosome disorder of sex development
Adducted thumbs - arthrogryposis, Christian type
Autosomal dominant spastic paraplegia type 36
Early-onset parkinsonism - intellectual disability
proprotein convertase subtilisin/kexin type 7 measurement
cranial division of the internal carotid artery
Autosomal recessive cerebelloparenchymal disorder type 3
Hemolytic anemia due to red cell pyruvate kinase deficiency
Hereditary thrombophilia due to congenital antithrombin deficiency
Qualitative or quantitative defects of calpain
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Macrothrombocytopenia with mitral valve insufficiency
Hemoglobin Barts to Total Hemoglobin Ratio Measurement
Congenital sucrase-isomaltase deficiency without starch intolerance
Atypical dentin dysplasia due to SMOC2 deficiency
Silver-Russell syndrome due to 7p11.2p13 microduplication
anti-meningococcal C serum bactericidal antibody measurement
Obesity due to prohormone convertase I deficiency
Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
heterotaxy, visceral, 9, autosomal, with male infertility
Hereditary persistence of fetal hemoglobin - sickle cell disease
Familial encephalopathy with neuroserpin inclusion bodies
Hereditary neuropathy with liability to pressure palsies
Taurodontia - absent teeth - sparse hair
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Distal hereditary motor neuropathy type 1
Salivary Gland Basal Cell Adenocarcinoma
Rare disorder with hypogonadotropic hypogonadism
Pulmonary arterial hypertension associated with chronic hemolytic anemia
Precancerous lesion of palpebral epidermis
Alar cartilages hypoplasia - coloboma - telecanthus
Benign familial mesial temporal lobe epilepsy
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
intellectual developmental disorder with hypertelorism and distinctive facies
intercellular adhesion molecule 2 measurement
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Abnormal posterior eye segment morphology
disease of central nervous system or retinal vasculature
Partial deletion of the short arm of chromosome 1
Hydrocephalus with stenosis of the aqueduct of Sylvius
Congenital disorder of glycosylation with nephropathy as a major feature
Rare intellectual disability without developmental anomaly
Human T-lymphotropic virus 2 infectious disease
Autosomal dominant pure spastic paraplegia
Lethal arteriopathy syndrome due to fibulin-4 deficiency
Disorder of branched-chain amino acid metabolism
Primary immunodeficiency due to a defect in adaptive immunity
PLCG2-associated antibody deficiency and immune dysregulation
Epidermolysis bullosa simplex with pyloric atresia
Progressive familial intrahepatic cholestasis type 2
Microcornea - glaucoma - absent frontal sinuses
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
Intellectual disability - polydactyly - uncombable hair
Recessive dystrophic epidermolysis bullosa-generalized other
Mandibuloacral dysplasia with type A lipodystrophy
Autosomal recessive spastic paraplegia type 76
Trigonocephaly - short stature - developmental delay
MITF-related melanoma and renal cell carcinoma predisposition syndrome
artificially sweetened beverage consumption measurement
X-linked intellectual disability, Stocco Dos Santos type
arrhythmogenic right ventricular dysplasia, familial, 14
female infertility due to an implantation defect
ligation-free chromosome conformation capture assay
Sickle cell disease associated with an other hemoglobin anomaly
autosomal recessive congenital ichthyosis 4A
growth hormone secreting pituitary adenoma 1
spastic paraplegia-severe developmental delay-epilepsy syndrome
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
langerin-negative, CD103-negative lymph node dendritic cell
Hearing loss - familial salivary gland insensitivity to aldosterone
Partial trisomy/tetrasomy of chromosome 18
cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
X-linked reticulate pigmentary disorder with systemic manifestations
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Rare bone disease related to a common gene or pathway defect
Disorder of iron metabolism and transport
X chromosome number anomaly with male phenotype
interstitial lung disease specific to infancy
coronary artery disease, autosomal dominant 2
Infantile Bartter syndrome with sensorineural deafness
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
congenital contractures of the limbs and face, hypotonia, and developmental delay
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
microcephaly, growth restriction and increased sister chromatid exchange
Periodic paralysis with transient compartment-like syndrome
CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor
Familial hypocalciuric hypercalcemia type 2
gastric neuroendocrine tumor, well differentiated, low or intermediate grade
intestinal disaccharide deficiency and disaccharide malabsorption
female infertility due to hypothalamic-pituitary-gonadal axis disorder
developmental and epileptic encephalopathy, 87
immature CD16-positive myeloid dendritic cell
Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Ocular albinism with congenital sensorineural deafness
Hypospadias - hypertelorism - coloboma and deafness
Autosomal dominant spastic paraplegia type 38
Cataract - intellectual disability - hypogonadism
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Qualitative or quantitative defects of protein O-mannosyltransferase 1
Abnormal circulating aromatic amino acid concentration
Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
X-linked intellectual disability, Nascimento type
epithelial cell adhesion molecule measurement
minimally differentiated acute myeloblastic leukemia
Normal Breast-Like Subtype of Breast Carcinoma
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
Obesity due to melanocortin 4 receptor deficiency
Neonatal inflammatory skin and bowel disease
Partial duplication of the long arm of chromosome 2
X chromosome number anomaly with female phenotype
Deafness -  small bowel diverticulosis - neuropathy
Malformation of the neurenteric canal, spinal cord and column
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Pulmonary arterial hypertension associated with connective tissue disease
Qualitative or quantitative defects of dysferlin
Progeroid and marfanoid aspect-lipodystrophy syndrome
Central Nervous System Anaplastic Large Cell Lymphoma
Congenital muscular dystrophy with hyperlaxity
Qualitative or quantitative defects of tropomyosin
number of non-cancer illnesses, self-reported
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
hereditary neuroendocrine tumor of small intestine
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
autoimmune disease of musculoskeletal system
46,XY disorder of sex development due to testosterone synthesis defect
Brain dopamine-serotonin vesicular transport disease
extraoral halitosis due to methanethiol oxidase deficiency
Atypical Gaucher disease due to saposin C deficiency
Partial trisomy/tetrasomy of chromosome 5
Qualitative or quantitative defects of telethonin
Autosomal recessive complex spastic paraplegia
Familial renal amyloidosis due to Apolipoprotein AII variant
Sodium channelopathy-related small fiber neuropathy
Isolated focal cortical dysplasia type IIb
Salivary Gland Carcinoma ex Pleomorphic Adenoma
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Leukoencephalopathy - ataxia - hypodontia - hypomyelination
short-rib thoracic dysplasia 17 with or without polydactyly
Moyamoya disease with early-onset achalasia
Cataract-congenital heart disease-neural tube defect syndrome
lateral mesenchyme derived from mesoderm
Mandibuloacral dysplasia with type B lipodystrophy
Progressive familial intrahepatic cholestasis type 3
Genetic syndrome with a central nervous system malformation as major feature
Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
Hereditary combined deficiency of vitamin K-dependent clotting factors
post-traumatic stress disorder symptom measurement
intercellular adhesion molecule 5 measurement
Partial duplication of the long arm of chromosome 15
X-linked intellectual disability, Vitale type
neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
Recurrent infection of the gastrointestinal tract
autosomal dominant nonsyndromic deafness 70
Partial trisomy of the long arm of chromosome 9
Qualitative or quantitative defects of gamma-sarcoglycan
Autosomal dominant hyperinsulinism due to SUR1 deficiency
NAD-dependent protein deacetylase sirtuin-2 measurement
Porokeratosis plantaris palmaris et disseminata
CD103-positive, langerin-positive lymph node dendritic cell
full length single nucleus RNA sequencing
Cloverleaf skull - asphyxiating thoracic dysplasia
nestin positive islet-derived progenitor cell
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
Immunodeficiency by defective expression of HLA class 1
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
neurodevelopmental disorder with or without seizures and gait abnormalities
Contractures - ectodermal dysplasia - cleft lip/palate
ectopic hormone secretion syndrome associated with neoplasia
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
spinocerebellar ataxia, autosomal recessive 28
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
obsolete_intermediate cell mass of mesoderm
tumor necrosis factor receptor superfamily member 19L measurement
congenital disorder of glycosylation, type IIq
Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
Defect in conserved oligomeric Golgi complex
Peripheral resistance to thyroid hormones
Rare hereditary metabolic disease with peripheral neuropathy
proto-oncogene tyrosine-protein kinase receptor Ret measurement
core binding factor acute myeloid leukemia
Hemoglobin C to Total Hemoglobin Ratio Measurement
methylmalonic aciduria and homocystinuria type cblG
Epstein-Barr virus early antigen seropositivity
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
RNA-seq of non coding RNA from single cells
hereditary thyroid gland medullary carcinoma
gastro-intestinal system smooth muscle contraction
Rare hemorrhagic disorder due to a constitutional platelet anomaly
Male infertility with teratozoospermia due to single gene mutation
congenital thyroid malformation without hypothyroidism
Partial deletion of the long arm of chromosome 6
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
other syndrome with a central nervous system malformation as major feature
Deafness - epiphyseal dysplasia - short stature
Intellectual disability - alacrima - achalasia
pseudohypoparathyroidism with Albright hereditary osteodystrophy
Pulmonary arterial hypertension associated with portal hypertension
Punctate palmoplantar keratoderma type 1
Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
non-syndromic diaphragmatic or thoracic malformation
rare tumor of gallbladder and extrahepatic biliary tract
Staphylococcus aureus subsp. aureus RN4220
Exercise intolerance with lactic acidosis
spine bone mineral density change measurement
developmental and epileptic encephalopathy, 88
Human respiratory syncytial virus A strain Long
Late infantile neuronal ceroid lipofuscinosis
mature dendritic epithelial T cell precursor
extrahepatic bile duct signet ring cell carcinoma
x-linked ichthyosis with steryl-sulfatase deficiency
Autosomal recessive pure spastic paraplegia
Hereditary sensory and autonomic neuropathy type 4
Macrocephaly - immune deficiency - anemia
late-onset scapuloperoneal muscular dystrophy with hyaline bodies
Salmonella enterica subsp. enterica serovar Agona
Imperforate oropharynx - costo vetebral anomalies
Disorder of porphyrin and haem metabolism
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Qualitative or quantitative defects of alpha-actin
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
central nervous system nongerminomatous germ cell tumor
localized superficial swelling, mass, or lump
X-linked hypophosphatemic rickets (recessive or dominant)
Ectodermal dysplasia with natal teeth, Turnpenny type
Autosomal recessive distal renal tubular acidosis
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
Mitochondrial DNA deletion syndrome with progressive myopathy
Glycogen storage disease due to phosphoglycerate mutase deficiency
Respiratory failure requiring assisted ventilation
Grade III Prostatic Intraepithelial Neoplasia
Progressive familial intrahepatic cholestasis type 1
acute myeloid leukemia with recurrent genetic anomaly
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Silver-Russell syndrome due to a point mutation
Autosomal dominant complex spastic paraplegia
mitochondrial complex III deficiency, nuclear type
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Polydactyly of a biphalangeal thumb, unilateral
Familial primary hypomagnesemia with normocalcuria
inborn disorder of aspartate family metabolism
polymicrogyria with or without vascular-type ehlers-danlos syndrome
neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
Arthrogryposis - hyperkeratosis, lethal form
mature T-cell and NK-cell non-Hodgkin lymphoma
Chondroectodermal dysplasia with night blindness
Xeroderma pigmentosum complementation group G
Spastic tetraplegia - retinitis pigmentosa - intellectual disability
Non-syndromic polydactyly, syndactyly and/or hyperphalangy
classic complement early component deficiency
chronic atrial and intestinal dysrhythmia
Lipodystrophy due to peptidic growth factors deficiency
Congenital absence of thigh and lower leg with foot present, bilateral
Simple Endometrial Hyperplasia with Atypia
Frontonasal dysplasia with alopecia and genital anomaly
Autosomal recessive spastic paraplegia type 32
Distal limb deficiencies - micrognathia syndrome
Maternal uniparental disomy of chromosome 2
IFAP syndrome with or without BRESHECK syndrome
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Mosaic genome-wide paternal uniparental disomy
repulsive guidance molecule A measurement
Congenital muscular dystrophy - infantile cataract - hypogonadism
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
thrombotic disorder due to an acquired platelet anomaly
Partial trisomy of the long arm of chromosome 18
high grade ovarian serous adenocarcinoma
bacterial meningitis caused by gram-negative bacteria
Primary central nervous system vasculitis
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Punctate palmoplantar keratoderma type 2
Autosomal recessive spastic paraplegia type 58
Drosophila sechellia x Drosophila simulans
Qualitative or quantitative defects of TRIM32
Syndrome with 46,XY disorder of sex development
Intractable diarrhea - choanal atresia - eye anomalies
Carnitine palmitoyl transferase II deficiency, myopathic form
Dysostosis with limb and face anomalies as a major feature
nasal cavity and paranasal sinus squamous cell carcinoma
Cortical blindness - intellectual disability - polydactyly
Reduced number of intrahepatic bile ducts
CD4-positive type I NK T cell secreting interferon-gamma
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
microRNA profiling by high throughput sequencing
Congenital disorder of glycosylation with cardiac malformation as a major feature
Vitamin B12-responsive methylmalonic acidemia type cblA
obsolete_Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
inherited nervous system cancer-predisposing syndrome
Pulmonary arterial hypertension associated with schistosomiasis
X-linked distal hereditary motor neuropathy
embryonic primordium of adult muscle precursor
metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Metachromatic leukodystrophy, late infantile form
Congenital and infantile nephrotic syndrome
ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
neuropathy, hereditary motor and sensory, type 6B
Cervical Mucinous Adenocarcinoma, Villoglandular Variant
Primary non-essential cutis verticis gyrata
random RNA-Seq across whole transcriptome
CD4-positive, CD25-positive, alpha-beta regulatory T cell
Chondrodysplasia with joint dislocations, gPAPP type
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
natural cytotoxicity triggering receptor 3 measurement
Facial dysmorphism - immunodeficiency - livedo - short stature
methylmalonic aciduria and homocystinuria type cblE
Combined oxidative phosphorylation defect type 21
combined oxidative phosphorylation deficiency 46
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
Abnormality of the urinary system physiology
Lethal congenital contracture syndrome type 1
Familial hypocalciuric hypercalcemia type 1
Microcephaly - digital anomalies - intellectual disability
Disorder of cobalamin metabolism and transport
Congenital osteogenesis imperfecta - microcephaly - cataracts
Microcephaly - brachydactyly - kyphoscoliosis
combined hepatocellular carcinoma and cholangiocarcinoma
Parotid Gland Carcinoma ex Pleomorphic Adenoma
Primary immunodeficiency syndrome due to p14 deficiency
Glycogen storage disease due to phosphorylase kinase deficiency
ectodermal dysplasia and immunodeficiency 1
miscellaneous movement disorder due to neurodegenerative disease
Lethal arthrogryposis - anterior horn cell disease
carcinoma of gallbladder and extrahepatic biliary tract
Familial partial lipodystrophy due to AKT2 mutations
Disorder of methionine cycle and sulfur amino acid metabolism
autoimmune disease of cardiovascular system
Pure or complex X-linked spastic paraplegia
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Bile acid synthesis defect with cholestasis and malabsorption
respiratory papillomatosis, juvenile recurrent, congenital
Recurrent Neisseria infections due to factor D deficiency
female infertility due to oocyte meiotic arrest
male infertility due to obstructive azoospermia
superior parietal cortex volume measurement
Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell
tumor necrosis factor receptor superfamily member 1B measurement
Genetic respiratory or mediastinal malformation
Niemann-Pick disease type C, juvenile neurologic onset
Escherichia coli str. K-12 substr. MG1655
chromosomal anomaly with epilepsy as a major feature
Partial monosomy of the short arm of chromosome 20
Fatal multiple mitochondrial dysfunction syndrome
Primary Intraosseous Squamous Cell Carcinoma
obesity, hyperphagia, and developmental delay
Autosomal dominant optic atrophy and late-onset deafness
positive regulation of glucagon secretion
retinoic acid receptor responder protein 2 measurement
Cerebellar ataxia - ectodermal dysplasia
acth-independent macronodular adrenal hyperplasia 2
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Paternal uniparental disomy of chromosome 1
serpinopathy with loss of serpin function
CD4-positive type I NK T cell secreting interleukin-4
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
Familial papillary thyroid carcinoma with renal papillary neoplasia
preterm premature rupture of the membranes
spondylometaphyseal dysplasia with corneal dystrophy
Benign partial epilepsy with secondarily generalized seizures in infancy
Vitamin B12-responsive methylmalonic acidemia type cblB
Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
Familial avascular necrosis of femoral head
Lissencephaly with cerebellar hypoplasia type A
Mirror polydactyly - vertebral segmentation - limbs defects
Qualitative or quantitative defects of caveolin-3
Hereditary hyperferritinemia with congenital cataracts
Congenital absence of upper arm and forearm with hand present
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
X-linked intellectual disability, Cilliers type
Hermansky-Pudlak syndrome without pulmonary fibrosis
pinnae and external auditory canal anomaly
Shortening of all distal phalanges of the fingers
Cutis gyrata - acanthosis nigricans - craniosynostosis
Abnormal subcutaneous fat tissue distribution
Intestinal disease due to vitamin absorption anomaly
adenocarcinoma of liver and intrahepatic biliary tract
cell adhesion molecule-related/down-regulated by oncogenes measurement
Hereditary acrokeratotic poikiloderma, Weary type
Ocular albinism with late-onset sensorineural deafness
Poorly Differentiated Thyroid Gland Carcinoma
Multiple epiphyseal dysplasia and pseudoachondroplasia
Microcephaly - lymphedema - chorioretinopathy
CD4-positive, alpha-beta intraepithelial T cell
Hyperandrogenism due to cortisone reductase deficiency
obsolete_dorsal anterior lateral line ganglion
X-linked intellectual disability, Abidi type
anti-cyclic citrullinated peptide antibody measurement
Autosomal dominant spastic paraplegia type 3
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Autosomal dominant isolated diffuse palmoplantar keratoderma
Genetic syndrome with a cerebellar malformation as major feature
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Autosomal recessive limb-girdle muscular dystrophy
mendelian susceptibility to mycobacterial diseases due to a complete deficiency
Congenital sucrase-isomaltase deficiency with starch intolerance
Partial deletion of the short arm of chromosome 16
X-linked intellectual disability - cerebellar hypoplasia
Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
hypogonadotropic hypogonadism 6 with or without anosmia
Familial partial lipodystrophy, Köbberling type
Osteogenesis imperfecta - retinopathy - seizures - intellectual disability
Partial deletion of the long arm of chromosome 3
Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Huntington disease and related disorders
Glycogen storage disease due to muscle phosphofructokinase deficiency
neurogenic locus notch homolog protein 1 measurement
combined oxidative phosphorylation deficiency 47
Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
Granular Cell Tumor of the Neurohypophysis
Primary bone dysplasia with multiple joint dislocations
Combined oxidative phosphorylation defect type 23
gastrointestinal tract (lamina propria) macrophage
infectious disease of the nervous system
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Disorder of fatty acid oxidation and ketone body metabolism
Congenital muscular dystrophy with integrin alpha-7 deficiency
Abnormal circulating nitrogen compound concentration
Autosomal recessive spastic paraplegia type 66
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Isolated CoQ-cytochrome C reductase deficiency
low molecular weight phosphotyrosine protein phosphatase measurement
Autosomal dominant spastic paraplegia type 12
Deafness with labyrinthine aplasia, microtia, and microdontia
Breast Mucosa-Associated Lymphoid Tissue Lymphoma
secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
obsolete_Sinus Histiocytosis with Massive Lymphadenopathy
X-linked neurodegenerative syndrome, Hamel type
Autosomal recessive spastic paraplegia type 61
hearing impairment and infertile male syndrome
Severe combined immunodeficiency due to CORO1A deficiency
Autosomal recessive optic atrophy, OPA7 type
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
muscular dystrophy, congenital, with cataracts and intellectual disability
encephalopathy due to mitochondrial and peroxisomal fission defect
Hereditary breast and ovarian cancer syndrome
Muscular dystrophy - white matter spongiosis
mixed endometrial stromal and smooth muscle tumor
Lissencephaly type 3 - familial fetal akinesia sequence
congenital anomaly of ventricular septum
pituitary hormone deficiency from tumoral origin
Intellectual disability - obesity - brain malformations - facial dysmorphism
Cone dystrophy with supernormal rod response
syndrome caused by partial chromosomal deletion
Vitamin B12-unresponsive methylmalonic acidemia type mut-
Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
Lissencephaly with cerebellar hypoplasia type B
Adult familial nephronophthisis - spastic quadriparesia
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
immune dysregulation with inflammatory bowel disease
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
EC 3.6.3.10 (H(+)/K(+)-exchanging ATPase) inhibitor
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Disorder of thiamine metabolism and transport
neurodevelopmental disorder with spasticity and poor growth
Isolated oxidative phosphorylation complex disorder
activated CD4-negative, CD8-negative type I NK T cell
46,XY disorder of sex development due to testicular steroidogenesis defect
small intestinal neuroendocrine tumor G1
Ichthyosis - alopecia - eclabion - ectropion - intellectual disability
undifferentiated carcinoma of liver and intrahepatic biliary tract
Autosomal recessive hypohidrotic ectodermal dysplasia
obsolete_ventral anterior lateral line ganglion
Autosomal dominant diffuse mutilating palmoplantar keratoderma
positive regulation of platelet aggregation
Autosomal dominant spastic paraplegia type 4
CD8-positive, alpha-beta cytotoxic T cell
X-linked intellectual disability with hypopituitarism
Endosteal sclerosis - cerebellar hypoplasia
maturity-onset diabetes of the young type 4
tumor necrosis factor ligand superfamily member 11 measurement
Partial duplication of the short arm of chromosome 16
Syndromic X-linked intellectual disability 7
primary lymphedema with associated anomalies
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
autoinflammatory syndrome with skin involvement
Arthrogryposis - renal dysfunction - cholestasis
neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Familial hyperreninemic hypoaldosteronism type 1
Pancreatic Small Cell Neuroendocrine Carcinoma
mendelian susceptibility to mycobacterial diseases due to a partial deficiency
interleukin-2 receptor subunit alpha measurement
[Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial measurement
Epidermolysis bullosa simplex, Dowling-Meara type
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Hyper-IgM syndrome with susceptibility to opportunistic infections
Chronic diarrhea with hereditary sensory and autonomic neuropathy
2.03 main shoot and axillary shoots visible at three nodes stage
Multicentric carpo-tarsal osteolysis with or without nephropathy
X-linked hereditary sensory and autonomic neuropathy with deafness
benign connective and soft tissue neoplasm
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
developmental delay with or without dysmorphic facies and autism
root mean square of the successive differences of inter beat intervals
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Hepatitis B virus surface antigen seropositivity
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Partial deletion of the long arm of chromosome 22
autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Combined oxidative phosphorylation defect type 24
congenital bilateral aplasia of vas deferens from CFTR mutation
Partial duplication of the long arm of chromosome 1
prohemocyte (sensu Nematoda and Protostomia)
intellectual disability, autosomal dominant 53
Disorder of gamma-aminobutyric acid metabolism
Congenital blindness due to retinal non-attachment
neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Partial deletion of the long arm of chromosome 15
rhabdomyosarcoma with mixed embryonal and alveolar features
Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
triokinase and FMN cyclase deficiency syndrome
spinal muscular atrophy, facioscapulohumeral type
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Immunodeficiency due to a late component of complements deficiency
secondary hyperparathyroidism of renal origin
hydrocephalus, congenital, 3, with brain anomalies
Cataract - aberrant oral frenula - growth delay
Posterior column ataxia - retinitis pigmentosa
Salmonella enterica subsp. enterica serovar Typhisuis
CUB domain containing protein 1 measurement
regulation of renin secretion into blood stream
neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
X-linked intellectual disability, Zorick type
other metabolic disease with skin involvement
Focal epilepsy - intellectual disability - cerebro-cerebellar malformation
Isolated focal cortical dysplasia type Ic
Hepatic veno-occlusive disease - immunodeficiency
46,XX ovotesticular disorder of sex development
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Congenitally uncorrected transposition of the great arteries with coarctation
Distal myopathy with early respiratory muscle involvement
Brain demyelination due to methionine adenosyltransferase deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2H
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
syndrome caused by partial chromosomal duplication
Autosomal dominant spastic paraplegia type 13
Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
Lissencephaly type 3 - metacarpal bone dysplasia
Lissencephaly with cerebellar hypoplasia type C
Pellagra-like skin rash - neurological manifestations
Rare hemorrhagic disorder due to a platelet receptor defect
combined oxidative phosphorylation defect type 20
neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
interleukin 18 receptor accessory protein measurement
Lipodystrophy - intellectual disability - deafness
Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion
Short stature-heart defect-craniofacial anomalies syndrome
proximal portion of anterior interventricular branch of left coronary artery
Congenital intestinal disease due to an enzymatic defect
squamous cell carcinoma of liver and intrahepatic biliary tract
primary cutaneous marginal zone B-cell lymphoma
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
thrombophilia due to activated protein C resistance
Carnitine palmitoyl transferase II deficiency, severe infantile form
Partial deletion of the long arm of chromosome 16
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma
neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Glycogen storage disease due to glycogen synthase deficiency
Isolated cytochrome C oxidase deficiency
Dystrophic epidermolysis bullosa, nails only
pituitary hormone deficiency from meningeal origin
Rhizomelic chondrodysplasia punctata type 3
Macrocephaly - spastic paraplegia - dysmorphism
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
calcium/calmodulin-dependent protein kinase type 1 measurement
single cell nucleic acid sequencing protocol
Disorder of biogenic amine metabolism and transport
Selective pituitary resistance to thyroid hormone
spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Autosomal recessive spastic paraplegia type 5A
Qualitative or quantitative defects of fukutin
Partial duplication of the short arm of chromosome 17
maturity-onset diabetes of the young type 6
Autosomal recessive limb-girdle muscular dystrophy type 2M
Familial hyperreninemic hypoaldosteronism type 2
46,XX disorder of sex development induced by fetoplacental androgens excess
Methylmalonic acidemia with homocystinuria, type cblD
malignant hyperthermia, susceptibility to, 5
Autosomal recessive spastic paraplegia type 67
amelogenesis imperfecta hypomaturation type 2A4
Immunodeficiency due to absence of thymus
standard deviation of the normal-to-normal inter beat intervals
Connective tissue disease with eye involvement
Mowat-Wilson syndrome due to a ZEB2 point mutation
Bleeding diathesis due to a collagen receptor defect
Familial primary localized cutaneous amyloidosis
Lactococcus lactis subsp. cremoris MG1363
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
CD8-positive, alpha-beta regulatory T cell
Autosomal dominant optic atrophy plus syndrome
Dopa-responsive dystonia due to sepiapterin reductase deficiency
nasal cavity and paranasal sinus neoplasm
rare vascular malformation of major vessels
Microphthalmia - ankyloblepharon - intellectual disability
Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Partial deletion of the long arm of chromosome 13
Familial renal amyloidosis due to Apolipoprotein AI variant
Growth Hormone-Producing Pituitary Gland Adenoma
Xeroderma pigmentosum complementation group B
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
Combined oxidative phosphorylation defect type 25
peak-valley respiratory sinus arrhythmia or high frequency power
Blepharophimosis-intellectual disability syndrome, MKB type
Hepatitis B virus core antigen seropositivity
Qualitative or quantitative defects of FKRP
Atypical Norrie disease due to monosomy Xp11.3
extragonadal non-dysgerminomatous germ cell tumor
intellectual developmental disorder with or without epilepsy or cerebellar ataxia
Epidermolysis bullosa simplex with mottled pigmentation
Tay-Sachs disease, B variant, infantile form
CD8alpha-negative thymic conventional dendritic cell
intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
neurodevelopmental disorder with involuntary movements
Familial progressive cardiac conduction defect
Autosomal recessive spastic paraplegia type 53
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
Short stature - wormian bones - dextrocardia
Cardiomyopathy - hypotonia - lactic acidosis
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Combined oxidative phosphorylation defect type 27
embryonal carcinoma of the central nervous system
regulation of neurological system process
corpus callosum central volume measurement
Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly
adnexal spiradenoma/cylindroma of a sweat gland
thrombophilia, X-linked, due to factor 9 defect
retinal dystrophy with or without macular staphyloma
Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
obsolete_lateral mesenchyme derived from mesoderm
autosomal recessive nonsyndromic deafness 102
Severe combined immunodeficiency due to CARD11 deficiency
predisposition to invasive fungal disease due to CARD9 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Reticulocyte Mean Corpuscular Hemoglobin Measurement
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
obsolete_amnioserosa anlage in statu nascendi
facial palsy, congenital, with ptosis and velopharyngeal dysfunction
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Fatal infantile cytochrome C oxidase deficiency
Cryptococcus neoformans var. neoformans JEC21
Ptosis - upper ocular movement limitation - absence of lacrimal punctum
epithelial and subepithelial corneal dystrophy
Autosomal recessive spastic paraplegia type 14
Pterygium colli - intellectual disability - digital anomalies
Lissencephaly with cerebellar hypoplasia type D
growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
Hereditary sensorimotor neuropathy with hyperelastic skin
temporal horn of lateral ventricle volume measurement
secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
mesenchyme derived from head neural crest
X-linked intellectual disability - ataxia - apraxia
Primary Pulmonary Diffuse Large B-Cell Lymphoma
Abnormality of prenatal development or birth
rare thrombotic disease of hematologic origin
CD34-positive, CD38-positive granulocyte monocyte progenitor
Zellweger-like syndrome without peroxisomal anomalies
Autosomal ichthyosis syndrome with prominent hair abnormalities
Decreased activity of the pyruvate dehydrogenase complex
Congenital enteropathy involving intestinal mucosa development
Rare genetic parathyroid disease and phosphocalcic metabolism disorder
Early-onset cerebellar ataxia with retained tendon reflexes
Methylmalonic acidemia with homocystinuria, type cblC
Autosomal recessive spastic ataxia - optic atrophy - dysarthria
NKG2-D type II integral membrane protein measurement
radiation or chemically induced disorder
calcium/calmodulin-dependent protein kinase type 1D measurement
hepatitis A virus cellular receptor 2 measurement
Rare male infertility due to adrenal disorder of genetic origin
myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
WNT1-inducible-signaling pathway protein 1 measurement
Adult-onset autosomal recessive sideroblastic anemia
Ehlers-Danlos syndrome due to tenascin-X deficiency
D4 glioblastoma derived primary cell line
blood cell (sensu Nematoda and Protostomia)
Combined oxidative phosphorylation defect type 17
Intellectual disability - spasticity - ectrodactyly
indolent primary cutaneous T-cell lymphoma
tumor necrosis factor ligand superfamily member 8 measurement
Methylmalonic acidemia with homocystinuria type cblF
Growth delay due to insulin-like growth factor type 1 deficiency
Qualitative or quantitative defects of sarcoglycan
Abelson tyrosine-protein kinase 2 measurement
ganglion or cyst of synovium/tendon/bursa
Autosomal recessive intermediate Charcot-Marie-Tooth disease
Hemolytic anemia due to glutathione reductase deficiency
X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Central nervous system calcification - deafness - tubular acidosis - anemia
LP.20 twenty or more leaves whorls visible stage
susceptibility to bacterial meningitis measurement
autoimmune disease of central nervous system
CD8-alpha-beta-positive, alpha-beta intraepithelial T cell
Autosomal dominant congenital benign spinal muscular atrophy
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Premature chromosome condensation with microcephaly and intellectual disability
gnb5-related intellectual disability-cardiac arrhythmia syndrome
X-linked intellectual disability, Armfield type
Metaphyseal dysostosis - intellectual disability - conductive deafness
Hepatic fibrosis - renal cysts - intellectual disability
Hair defect - photosensitivity - intellectual disability
Chronic respiratory distress with surfactant metabolism deficiency
Congenital muscular dystrophy, Ullrich type
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Familial renal amyloidosis due to lysozyme variant
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
caudal division of the internal carotid artery
Primary bone dysplasia with increased bone density
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Combined oxidative phosphorylation defect type 26
ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 measurement
Disease with potential neoplastic degeneration associated with ocular features
Glycogen storage disease due to glycogenin deficiency
Small Intestinal Diffuse Large B-Cell Lymphoma
neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Partial duplication of the long arm of chromosome X
Female infertility due to zona pellucida defect
tremor - ataxia - central hypomyelination syndrome
Metabolic myopathy due to lactate transporter defect
Autosomal recessive distal osteolysis syndrome
Transient bullous dermolysis of the newborn
corpus callosum mid-anterior volume measurement
neurodevelopmental disorder with cerebellar hypoplasia and spasticity
precursor B-cell acute lymphoblastic leukemia
Combined oxidative phosphorylation defect type 30
intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
dorsal ectoderm anlage in statu nascendi
Seborrhea-like dermatitis with psoriasiform elements
CD22-positive, CD38-low small pre-B cell
Thumb deformity - alopecia - pigmentation anomaly
polyhydramnios, megalencephaly, and symptomatic epilepsy
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Autosomal recessive spastic paraplegia type 15
Intellectual disability - cataracts - kyphosis
Carboxyhemoglobin to Total Hemoglobin Ratio Measurement
Calcifying Nested Epithelial Stromal Tumor of the Liver
Autosomal dominant hypohidrotic ectodermal dysplasia
Leptospira interrogans serovar Lai str. 56601
Cataract - hypertrichosis - intellectual disability
secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
negative regulation of sensory perception of pain
Isolated autosomal dominant hypomagnesemia, Glaudemans type
familial cold autoinflammatory syndrome 4
Pterygium of the conjunctiva, familial form
Autosomal recessive distal hereditary motor neuropathy
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
neurodevelopmental disorder with hypotonia, microcephaly, and seizures
Qualitative or quantitative defects of alpha-dystroglycan
Legionella pneumophila subsp. pneumophila str. Philadelphia 1
Lethal congenital contracture syndrome type 3
Calvarial doughnut lesions - bone fragility
mixed germ cell tumor of central nervous system
Autosomal recessive spastic paraplegia type 69
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Channelopathy-associated congenital insensitivity to pain
X-linked intellectual disability - cubitus valgus - dysmorphism
Genetic malformation syndrome with short stature
Generalized congenital lipodystrophy with myopathy
myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
Autosomal recessive isolated diffuse palmoplantar keratoderma
non-receptor tyrosine-protein kinase TYK2 measurement
pituitary hormone deficiency, combined, 1
Nephrosis - deafness - urinary tract - digital malformations
hepatocyte growth factor activator measurement
Partial deletion of the short arm of chromosome 3
Pyogenic arthritis - pyoderma gangrenosum - acne
Genetic non-syndromic central nervous system malformation
rare neuroinflammatory or neuroimmunological disease
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
Mycobacterium bovis BCG str. Pasteur 1173P2
Symbrachydactyly of hand and foot, unilateral
aggressive primary cutaneous T-cell lymphoma
Illumina Genome Analyzer standard manufacturer's protocol
immature CD11c-negative plasmacytoid dendritic cell
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
mental or behavioural disorder biomarker
hepatitis A virus cellular receptor 1 measurement
adenocarcinoma of gallbladder and extrahepatic biliary tract
therapy related acute myeloid leukemia and myelodysplastic syndrome
cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
Growth delay due to insulin-like growth factor I resistance
Salmonella enterica subsp. enterica serovar Pullorum
Familial clubfoot due to PITX1 point mutation
acid sphingomyelinase-like phosphodiesterase 3a measurement
apical ectodermal ridge pectoral fin bud
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Muscular hypertrophy - hepatomegaly - polyhydramnios
Spondyloepimetaphyseal dysplasia - abnormal dentition
Combined malonic and methylmalonic acidemia
central memory CD4-positive, alpha-beta T cell
Hyper-IgM syndrome without susceptibility to opportunistic infections
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
X-linked intellectual disability, Cantagrel type
response to dendritic cell-based immunotherapy
intellectual developmental disorder with autistic features and language delay, with or without seizures
Partial duplication of the short arm of chromosome 2
Rare parkinsonian syndrome due to genetic neurodegenerative disease
malignant vaginal mixed epithelial and mesenchymal neoplasm
Rare eye disease due to a differentiation anomaly
Abnormal circulating carboxylic acid concentration
AXIN2-related attenuated familial adenomatous polyposis
Partial duplication of the long arm of chromosome 19
Anti-Epstein-Barr virus early antigen IgG measurement
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Partial duplication of the long arm of chromosome 7
Hereditary motor and sensory neuropathy type 6
Immunodeficiency by defective expression of HLA class 2
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Onycho-patellar syndrome with eye involvement
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Small Intestinal Enteropathy-Associated T-Cell Lymphoma
Arachnodactyly - abnormal ossification - intellectual disability
Congenital muscular dystrophy with intellectual disability
Spinal atrophy - ophthalmoplegia - pyramidal syndrome
complex cortical dysplasia with other brain malformations
Salmonella enterica subsp. enterica serovar Montevideo
CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor
intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Malignant hyperthermia - arthrogryposis - torticollis
corpus callosum posterior volume measurement
childhood acute myeloid leukemia with maturation
Familial renal amyloidosis due to fibrinogen A alpha-chain variant
Metaphyseal chondrodysplasia - retinitis pigmentosa
organic cyclic compound metabolic process
resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
Lethal ataxia with deafness and optic atrophy
rare disease with odontological manifestation
Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
Abnormality of cardiovascular system electrophysiology
Autosomal recessive cerebellar ataxia with late-onset spasticity
Corpuscular Hemoglobin Concentration Distribution Width
Autosomal dominant spastic paraplegia type 41
Hereditary motor and sensory neuropathy, Okinawa type
neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
intellectual developmental disorder with impaired language and dysmorphic facies
positive regulation of sensory perception of pain
deficiency of the interleukin-36 receptor antagonist
Niemann-Pick disease type C, adult neurologic onset
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
CD34-positive, GlyA-negative erythroid progenitor cell
Lipoma associated with neurospinal dysraphism
Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
X-linked cone dysfunction syndrome with myopia
Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability
Atrial septal defect, ostium secundum type
Combined oxidative phosphorylation defect type 7
Telecanthus - hypertelorism - strabismus - pes cavus
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
Torsade-de-pointes syndrome with short coupling interval
Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
Unclassified primitive or secondary maculopathy
muscular dystrophy, limb-girdle, autosomal dominant 4
arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
woolly hair, autosomal recessive 2, with or without hypotrichosis
aggressive primary cutaneous B-cell lymphoma
Fms-related tyrosine kinase 3 ligand measurement
CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor
Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation
Partial trisomy of the long arm of chromosome 20
Leber congenital amaurosis with early-onset deafness
Illumina Genome Analyzer II standard manufacturer's protocol
combined oxidative phosphorylation deficiency 34
Maternal uniparental disomy of chromosome 1
Glycogen storage disease due to hepatic glycogen synthase deficiency
recombinase activating gene 2 deficiency
negative regulation of inflammatory response
Morphological abnormality of the gastrointestinal tract
Fc-epsilon RIalpha-low mast cell progenitor
squamous cell carcinoma of gallbladder and extrahepatic biliary tract
Delayed closure of the anterior fontanelle
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
polycystic kidney disease 6 with or without polycystic liver disease
Autosomal recessive childhood-onset cortical cataract
hepatocyte growth factor receptor measurement
effector memory CD4-positive, alpha-beta T cell
Hirschsprung disease - type D brachydactyly
growth hormone-producing pituitary gland neoplasm
Bulbar conjunctival dermoid or conjunctival dermolipoma
Staphylococcus aureus subsp. aureus USA300
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Congenital absence/hypoplasia of thumb, unilateral
Combined oxidative phosphorylation defect type 15
Miscellaneous movement disorder due to genetic neurodegenerative disease
non-syndromic diaphragmatic or abdominal wall malformation
Malformation syndrome with connective tissue involvement
Autosomal recessive limb-girdle muscular dystrophy type 2T
carotid artery internal diameter measurement
Congenital cataract microcornea with corneal opacity
congenital anomaly of the great arteries
mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
Autosomal recessive spastic paraplegia type 30
Xeroderma pigmentosum complementation group C
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Rare female infertility due to adrenal disorder of genetic origin
Autosomal recessive limb-girdle muscular dystrophy type 2E
Hypoplastic tibiae - postaxial polydactyly
Thickened earlobes - conductive deafness
Progressive epilepsy and/or ataxia with myoclonus as a major feature
Combined deficiency of factor V and factor VIII
Familial isolated arrhythmogenic right ventricular dysplasia
Anti-herpes simplex virus 1 IgG measurement
susceptibility to hepatitis A infection measurement
Primary bone dysplasia with decreased bone density
Partial duplication of the short arm of chromosome 7
Larsen-like osseous dysplasia - short stature
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
X-linked intellectual disability, Wilson type
plasma protease C1 inhibitor measurement
Severe early-onset axonal neuropathy due to MFN2 deficiency
interaction with other organism via secreted substance involved in symbiotic interaction
macrophage inflammatory protein 1a measurement
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
Distal hereditary motor neuropathy type 5
obsolete_mixed lobular and ductal breast carcinoma
Blepharophimosis-intellectual disability syndrome, SBBYS type
neuroendocrine tumor with other location
Exostoses - anetodermia - brachydactyly type E
Respiratory insufficiency due to muscle weakness
childhood B acute lymphoblastic leukemia
Partial duplication of the long arm of chromosome 10
white matter lesion progression measurement
Familial partial lipodystrophy, Dunnigan type
Temperature-sensitive oculocutaneous albinism type 1
Autosomal recessive spastic paraplegia type 49
Atrial septal defect, coronary sinus type
obsolete_congenital bilateral absence of the vas deferens
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
myeloid neoplasms associated with PDGFRB rearrangement
Abnormal muscle fiber dystrophin expression
Non-progressive cerebellar ataxia with intellectual disability
Camptodactyly syndrome, Guadalajara type 2
Autosomal dominant spastic paraplegia type 17
Cryptomicrotia - brachydactyly - excess fingertip arch
spinocerebellar ataxia, autosomal recessive, 27
Ectodermal dysplasia - intellectual disability - central nervous system malformation
cellular aromatic compound metabolic process
severe combined immunodeficiency due to CARMIL2 deficiency
transverse temporal cortex volume measurement
skeletal dysplasia, mild, with joint laxity and advanced bone age
Obesity due to congenital leptin deficiency
Myopathy - growth delay - intellectual disability - hypospadias
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Disease predisposing to age-related macular degeneration
mental retardation, autosomal dominant 54
indolent primary cutaneous B-cell lymphoma
mature CD11c-negative plasmacytoid dendritic cell
polycystic liver disease 4 with or without kidney cysts
Functional abnormality of the gastrointestinal tract
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes
primary melanocytic tumor of central nervous system
Familial episodic pain syndrome with predominantly lower limb involvement
positive regulation of inflammatory response
Progressive external ophthalmoplegia - myopathy - emaciation
Congenital vitamin K-dependent coagulation factors deficiency
Combined immunodeficiency due to CRAC channel dysfunction
Bowed tibiae  - radial anomalies - osteopenia - fractures
Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
hepatocyte growth factor-like protein measurement
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Partial monosomy of the short arm of chromosome 17
Familial atypical multiple mole melanoma syndrome
Symbrachydactyly of hand and foot, bilateral
Illumina Genome Analyzer IIx standard manufacturer's protocol
Tay-Sachs disease, B variant, juvenile form
Bulbospinal muscular atrophy of children
Autosomal dominant severe congenital neutropenia
myeloid cell surface antigen CD33 measurement
syndromic diaphragmatic or abdominal wall malformation
Hypomyelination with atrophy of basal ganglia and cerebellum
a disintegrin and metalloproteinase with thrombospondin motifs 5 measurement
Partial deletion of the long arm of chromosome 12
Inability to walk by childhood/adolescence
developmental and epileptic encephalopathy, 66
Spondyloepimetaphyseal dysplasia with multiple dislocations
punctate palmoplantar keratoderma type III
Maxillary Sinus Adenoid Cystic Carcinoma
Staphylococcus aureus subsp. aureus Mu50
signet ring cell intrahepatic cholangiocarcinoma
Hypotrichosis with juvenile macular degeneration
Marfanoid habitus - inguinal hernia - advanced bone age
activated CD8-positive, alpha-beta T cell
lissencephaly 9 with complex brainstem malformation
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
immunodeficiency due to a complement regulatory deficiency
Pancreatic insufficiency - anemia - hyperostosis
Disorder of amino acid absorption and transport
congenital heart defects, multiple types, 7
susceptibility to rheumatic fever measurement
Diffuse palmoplantar keratoderma with painful fissures
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Multiple benign circumferential skin creases on limbs
organic cyclic compound biosynthetic process
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
hematological disease associated with an acquired peripheral neuropathy
rare neurologic disease with psychiatric involvement
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Finnish upper limb-onset distal myopathy
X-linked intellectual disability, Wittwer type
systemic diseases with posterior uveitis
Female infertility due to fertilization defect
Congenital absence of upper arm and forearm with hand present, unilateral
Generalized peeling skin syndrome type C
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Osteopathia striata - pigmentary dermopathy - white forelock
Secondary glaucoma due to a proliferation and differentiation anomaly
carotid artery central pulse pressure measurement
Axonal Charcot-Marie-Tooth disease with acrodystrophy
interaction with host via secreted substance involved in symbiotic interaction
Autosomal dominant spastic paraplegia type 42
myopathy, congenital, progressive, with scoliosis
Eucalyptus camaldulensis x Eucalyptus grandis
childhood T acute lymphoblastic leukemia
Congenital muscular dystrophy due to LMNA mutation
lethal congenital glycogen storage disease of heart
Pelvic dysplasia - arthrogryposis of lower limbs
Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm
Disorder of phenylalanin or tyrosine metabolism
X-linked intellectual disability, Seemanova type
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Split hand - urinary anomalies - spina bifida
Salmonella enterica subsp. enterica serovar Typhimurium str. SL1344
Atrial septal defect, sinus venosus type
Qualitative or quantitative defects of protein ZASP
systemic inflammatory disease associated with an acquired peripheral neuropathy
Alagille syndrome due to a JAG1 point mutation
Ankyloblepharon filiforme - imperforate anus
CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell
Autosomal dominant spastic paraplegia type 19
Cryptorchidism - arachnodactyly - intellectual disability
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
regulation of sensory perception of pain
small nuclear ribonucleoprotein F measurement
postburn hypertrophic scarring severity measurement
spastic paraplegia 81, autosomal recessive
Noonan syndrome-like disorder with loose anagen hair
Familial papillary or follicular thyroid carcinoma
Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Abnormality of the cerebral white matter
Hermansky-Pudlak syndrome with pulmonary fibrosis
recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
MUTYH-related attenuated familial adenomatous polyposis
Charcot-Marie-Tooth disease axonal type 2V
proheparin-binding EGF-like growth factor measurement
hypercholesterolemia, autosomal dominant, type B
rare epithelial tumor of small intestine
Partial deletion of the long arm of chromosome 2
encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
Camptodactyly syndrome, Guadalajara type 1
Hypergonadotropic hypogonadism - cataract syndrome
Global developmental delay - osteopenia - ectodermal defect
Hereditary thrombocytopenia with normal platelets
Autosomal recessive limb-girdle muscular dystrophy type 2N
mental retardation, autosomal dominant 53
Autosomal dominant popliteal pterygium syndrome
immature CD8_alpha-negative CD11b-positive dendritic cell
Autosomal recessive spastic paraplegia type 44
Severe intellectual disability-progressive spastic diplegia syndrome
isthmus cingulate cortex volume measurement
interstitial lung disease specific to childhood
Abnormality of cardiovascular system morphology
negative regulation of leukocyte activation
Illumina HiSeq 1000 standard manufacturer's protocol
Leydig cell hypoplasia due to LHB deficiency
Periodic paralysis with later-onset distal motor neuropathy
Staphylococcus aureus subsp. aureus N315
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Nephrogenic diabetes insipidus - intracranial calcification
Combined immunodeficiency with facio-oculo-skeletal anomalies
major salivary gland adenoid cystic carcinoma
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
central memory CD8-positive, alpha-beta T cell
Nasopalpebral lipoma - coloboma - telecanthus
Autosomal recessive spastic paraplegia type 59
language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
Subsequent ST elevation (STEMI) and non-ST elevation (NSTEMI) myocardial infarction
Disorder of urea cycle metabolism and ammonia detoxification
susceptibility to common cold measurement
Isolated congenitally uncorrected transposition of the great arteries
Spinal muscular atrophy associated with central nervous system anomaly
Congenital disorder of glycosylation with developmental anomaly
Developmental and speech delay due to SOX5 deficiency
Autosomal dominant spastic paraplegia type 37
Genetic tumor of hematopoietic and lymphoid tissues
Congenital absence/hypoplasia of thumb, bilateral
Angelman syndrome due to maternal 15q11q13 deletion
Rare disease with glaucoma as a major feature
Cervical hypertrichosis - peripheral neuropathy
leigh syndrome due to mitochondrial complex iv deficiency
anemia, hypochromic microcytic with iron overload
intellectual developmental disorder 60 with seizures
Actinobacillus pleuropneumoniae serovar 1 str. 4074
Oligodontia - cancer predisposition syndrome
Borderline Fallopian Tube Serous Neoplasm
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
tumor necrosis factor ligand superfamily member 10 measurement
secondary interstitial lung disease specific to childhood associated with a granulomatous disease
disorder of development or morphogenesis
T-cell large granular lymphocyte leukemia
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
microcephalic primordial dwarfism due to RTTN deficiency
Arthrogryposis-like hand anomaly - sensorineural deafness
stem Cell Growth Factor beta measurement
Hypotrichosis - lymphedema - telangiectasia
Upper limb defect - eye and ear abnormalities
X-linked intellectual disability, Shrimpton type
perceived unattractiveness to mosquitos measurement
Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
Rare disorder with dystonia and other neurologic or systemic manifestation
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
obsolete_spinal muscular atrophy with respiratory distress
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Methylmalonic acidemia with homocystinuria, type cblJ
Tall stature-intellectual disability-facial dysmorphism syndrome
genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
Prader-Willi-like syndrome due to point mutation
aneurysm or dilatation of ascending aorta
congenital heart defects, multiple types, 5
spastic paraplegia 82, autosomal recessive
Partial deletion of the long arm of chromosome 5
X-linked intellectual disability, Raynaud type
Reticular dystrophy of the retinal pigment epithelium
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
type II complement component 8 deficiency
Male infertility due to gonadal dysgenesis or sperm disorder
malignant mixed epithelial and mesenchymal tumor of cervix uteri
Atrial septal defect, ostium primum type
Developmental anomaly of metabolic origin
Multiple epiphyseal dysplasia, Beighton type
well-differentiated fetal adenocarcinoma of the lung
peripheral neuropathy associated with monoclonal gammopathy
Partial deletion of the long arm of chromosome 14
gamma-amino butyric acid metabolism disorder
Partial trisomy/tetrasomy of the short arm of chromosome 18
cognitive impairment with or without cerebellar ataxia
Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
Rare hemorrhagic disorder due to a constitutional coagulation factors defect
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Syndrome with 46,XX disorder of sex development
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Hereditary cryohydrocytosis with reduced stomatin
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Illumina HiSeq 2000 standard manufacturer's protocol
Autosomal recessive secondary polycythemia not associated with VHL gene
Congenital bile acid synthesis defect type 4
Mitochondrial myopathy - lactic acidosis - deafness
Hypermethioninemia due to glycine N-methyltransferase deficiency
lateral occipital cortex volume measurement
primary interstitial lung disease specific to childhood
intellectual developmental disorder and retinitis pigmentosa; IDDRP
Xanthomonas axonopodis pv. citri str. 306
Autosomal recessive spastic paraplegia type 18
hemorrhagic disorder due to an acquired platelet anomaly
Cerebral diseases of vascular origin with epilepsy
Glutathione synthetase deficiency with 5-oxoprolinuria
Xeroderma pigmentosum complementation group E
CD8-positive, alpha-beta cytokine secreting effector T cell
Primary qualitative or quantitative defects of alpha-dystroglycan
Hirschsprung disease - nail hypoplasia - dysmorphism
diaphragmatic or abdominal wall malformation
Circumscribed cutaneous aplasia of the vertex
Intellectual disability - hypotonia - spasticity - sleep disorder
colorectal cancer, hereditary nonpolyposis, type 8
Congenital muscular dystrophy, Fukuyama type
Qualitative or quantitative defects of perlecan
Blepharophimosis-intellectual disability syndrome, Ohdo type
Spastic paraplegia - epilepsy - intellectual disability
Autosomal recessive spastic paraplegia type 45
Kunitz-type protease inhibitor 2 measurement
Congenital absence of upper arm and forearm with hand present, bilateral
Pigmentation disorder with eye involvement, excluding albinism
Porphyria due to ALA dehydratase deficiency
X-linked intellectual disability - plagiocephaly
Syndrome with disorder of sex development of gynecological interest
Alagille syndrome due to a NOTCH2 point mutation
Combined immunodeficiency due to MALT1 deficiency
NTera2 derived dopaminergic neuronal like cells
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Lysosomal disease with hypertrophic cardiomyopathy
X-linked intellectual disability, Hedera type
Isolated growth hormone deficiency type II
toll-like receptor 4:Lymphocyte antigen 96 complex measurement
Retinal vasculopathy and cerebral leukodystrophy
susceptibility to rubella infection measurement
Autosomal recessive non-syndromic intellectual disability
Mandibulofacial dysostosis - macroblepharon - macrostomia
Xeroderma pigmentosum complementation group D
46,XX disorder of sex development - skeletal anomalies
X-linked distal arthrogryposis multiplex congenita
secondary interstitial lung disease specific to childhood associated with a metabolic disease
thrombophilia due to protein S deficiency, autosomal dominant
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
X-linked intellectual disability, Stevenson type
CD8-positive, CD28-negative, alpha-beta regulatory T cell
X-linked intellectual disability, Cabezas type
Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
Myoclonus - cerebellar ataxia - deafness
Listeria monocytogenes serotype 4b str. F2365
CD94-positive Ly49CI-positive natural killer cell, mouse
T-B+ severe combined immunodeficiency due to CD45 deficiency
stromal cell-derived factor 1 alpha measurement
anemia due to erythrocyte enzyme disorder
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Facial dysmorphism - shawl scrotum - joint laxity
deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
Ketoacidosis due to beta-ketothiolase deficiency
kallikrein, decreased urinary activity of
metastatic malignant neoplasm in the colon
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
fatty acid desaturase enzyme activity measurement
CD103-negative, langerin-positive lymph node dendritic cell
Congenital bile acid synthesis defect type 1
glycogen storage disease type 1 due to SLC37A4 mutation
X-linked intellectual disability, Schutz type
Joubert syndrome with orofaciodigital defect
atrial defect and interatrial communication
Autosomal recessive spastic paraplegia type 70
Autosomal dominant limb-girdle muscular dystrophy type 1B
Congenital muscular dystrophy with intellectual disability and severe epilepsy
X-linked intellectual disability, Kroes type
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Disorder of lysosomal amino acid transport
Blepharoptosis - myopia - ectopia lentis
Autosomal recessive limb-girdle muscular dystrophy type 2O
Partial trisomy/tetrasomy of the short arm of chromosome 5
Autosomal dominant focal dystonia, DYT25
46,XX disorder of sex development induced by fetal androgens excess
proteomic profiling by mass spectrometer
degeneration of macula and posterior pole
Atypical hemolytic-uremic syndrome with C3 anomaly
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Microcephaly - cardiac defect - lung malsegmentation
Qualitative or quantitative defects of myotubularin
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Porokeratotic eccrine ostial and dermal duct nevus
lateral orbital frontal cortex volume measurement
primary interstitial lung disease specific to childhood due to alveolar structure disorder
Illumina MiSeq standard manufacturer's protocol
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
pulmonary artery-aorta diameter ratio measurement
Rare hereditary disease with avascular necrosis
Mitochondrial myopathy and sideroblastic anemia
Spinocerebellar ataxia type 1 with axonal neuropathy
soluble interleukin-2 receptor subunit alpha measurement
Symphalangism with multiple anomalies of hands and feet
Microcephalic primordial dwarfism due to ZNF335 deficiency
X-linked intellectual disability, Gu type
thrombotic disorder due to a coagulation factors defect
multiple mitochondrial dysfunctions syndrome 4
Blepharophimosis - epicanthus inversus - ptosis
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Familial primary hypomagnesemia with hypocalcuria
Recessive aplasia cutis congenita of limbs
Saccharomyces bayanus x Saccharomyces cerevisiae
Disorder of neurotransmitter metabolism and transport
Familial focal epilepsy with variable foci
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Combined immunodeficiency due to STIM1 deficiency
hypertrophic osteoarthropathy, primary, autosomal recessive, 1
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Ectodermal malformation syndrome associated with ocular features
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Neutrophils Band Form to Neutrophils Ratio Measurement
dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Rare disease with dentinogenesis imperfecta
Congenital absence/hypoplasia of fingers excluding thumb, bilateral
sinus histiocytosis with massive lymphadenopathy
Syndrome associated with dilated cardiomyopathy
humerofemoral hypoplasia with radiotibial ray deficiency
Familial mesial temporal lobe epilepsy with febrile seizures
Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction
congenital heart defects and ectodermal dysplasia
clinical and behavioural ideal cardiovascular health
Cardiac anomalies-developmental delay-facial dysmorphism syndrome
transforming growth factor-beta-induced protein ig-h3 measurement
behavioral response to water deprivation
immunodeficiency due to a classical component pathway complement deficiency
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Micrencephaly - corpus callosum agenesis - abnormal genitalia
central nervous system immature teratoma
Qualitative or quantitative defects of delta-sarcoglycan
hematopoietic and lymphoid cell neoplasm
Autosomal recessive optic atrophy, OPA6 type
susceptibility to chronic sinus infection measurement
HTRA1-related cerebral small vessel disease
Cleft palate - stapes fixation - oligodontia
Niemann-Pick disease type C, severe perinatal form
Solitary median maxillary central incisor syndrome
superoxide dismutase [Mn], mitochondrial measurement
X-linked Charcot-Marie-Tooth disease type 6
X-linked intellectual disability, Stoll type
Genetic 46,XX disorder of sex development
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
transcription profiling by high throughput sequencing
Cloverleaf skull - multiple congenital anomalies
Congenital sucrase-isomaltase deficiency without sucrose intolerance
Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Spastic paraplegia - Paget disease of bone
Short fifth metacarpals - insulin resistance
glut1 deficiency syndrome 1, autosomal recessive
microeinstein per square meter per second
Sickle cell disease and related diseases
neurodevelopmental disorder with microcephaly, ataxia, and seizures
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
autoimmune disease of the nervous system
Immunodeficiency due to a complement cascade protein anomaly
Autosomal dominant limb-girdle muscular dystrophy type 1C
Polymicrogyria - turricephaly - hypogenitalism
X-linked intellectual disability, Snyder type
Rare hereditary systemic disease with peripheral neuropathy
Multiple sclerosis - ichthyosis - factor VIII deficiency
Isolated growth hormone deficiency type III
sleep apnea measurement during REM sleep
Qualitative or quantitative defects of titin
blastic plasmacytoid dendritic cell neoplasm
Autosomal dominant non-syndromic intellectual disability
purine nucleoside monophosphate metabolic process
type II hypersensitivity reaction disease
encephalopathy, progressive, with amyotrophy and optic atrophy
CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell
Congenital bile acid synthesis defect type 3
Developmental stagnation at onset of seizures
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Congenitally uncorrected transposition of the great arteries with cardiac malformation
palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
Morphological central nervous system abnormality
beginning of whole plant fruit ripening stage
proto-oncogene tyrosine-protein kinase Src measurement
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
primary interstitial lung disease specific to childhood due to alveolar vascular disorder
hypogonadotropic hypogonadism 1 with or without anosmia
myofibrillar myopathy 9 with early respiratory failure
anemia, nonspherocytic hemolytic, due to G6PD deficiency
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
congenital disorder of glycosylation, type iit
Epidermolysis bullosa simplex with anodontia/hypodontia
Borderline Ovarian Surface Epithelial-Stromal Tumor
Glycogen storage disease due to aldolase A deficiency
tumor necrosis factor-inducible gene 6 protein measurement
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Aplasia cutis congenita - intestinal lymphangiectasia
autoimmune disease of peripheral nervous system
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
intellectual disability, autosomal dominant 47
Spastic paraplegia - glaucoma - intellectual disability
Acute infantile liver failure-multisystemic involvement syndrome
Cataract associated with a metabolic disease
Night blindness - skeletal anomalies - dysmorphism
Hibiscus chlorotic ringspot virus infection
Combined immunodeficiency due to STK4 deficiency
Partial deletion of the short arm of chromosome 5
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Developmental delay - deafness, Hildebrand type
hyperphenylalaninemia due to DNAJC12 deficiency
nucleic acid library construction protocol
Abnormal aggressive, impulsive or violent behavior
Amelogenesis imperfecta and gingival hyperplasia syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Hirschsprung disease - deafness - polydactyly
arrhythmogenic cardiomyopathy with woolly hair and keratoderma
Severe lateral tibial bowing with short stature
Partial trisomy/tetrasomy of the short arm of chromosome 12
Ectodermal dysplasia - cutaneous syndactyly syndrome
Deafness - enamel hypoplasia - nail defects
X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
Congenitally uncorrected transposition of the great arteries
cerebral malformation due to abnormal neuronal migration
EGF-like module-containing mucin-like hormone receptor-like 2 measurement
ichthyosiform erythroderma, corneal involvement, and deafness
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Rare familial disorder with hypertrophic cardiomyopathy
Rare hereditary disease with peripheral neuropathy
malignant non-dysgerminomatous germ cell tumor of ovary
Autosomal recessive spastic paraplegia type 7
neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
X-linked intellectual disability, Najm type
Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
autoimmune disease of ear, nose and throat
global developmental delay - neuro-ophthalmological abnormalities - seizures - intellectual disability syndrome
T-lymphocyte surface antigen Ly-9 measurement
X-linked lethal multiple pterygium syndrome
Salmonella enterica subsp. enterica serovar Emek
Syndactyly - telecanthus - anogenital and renal malformations
Short rib-polydactyly syndrome, Beemer-Langer type
Spondylometaphyseal dysplasia, 'corner fracture' type
neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Multinodular goiter - cystic kidney - polydactyly
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
interstitial lung disease specific to adulthood
Laryngeal abductor paralysis - intellectual disability
X-linked intellectual disability - acromegaly - hyperactivity
sleep apnea measurement during non-REM sleep
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Intellectual disability-facial dysmorphism-hand anomalies syndrome
Hemolytic anemia due to adenylate kinase deficiency
genotyping by high throughput sequencing
Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
differential expression analysis data transformation
Hereditary North American Indian childhood cirrhosis
Autosomal dominant hereditary axonal motor and sensory neuropathy
Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
Terminal osseous dysplasia - pigmentary defects
Thumb stiffness - brachydactyly - intellectual disability
Lung agenesis - heart defect - thumb anomalies
CD8-positive, CD25-positive, alpha-beta regulatory T cell
Idiopathic ventricular fibrillation, not Brugada type
Patterned dystrophy of the retinal pigment epithelium
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell
Congenital bile acid synthesis defect type 2
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
tumor necrosis factor receptor superfamily member EDAR measurement
X-linked intellectual disability, Wittner type
Partial duplication of the short arm of chromosome 11
vascular tumor with associated anomalies
arhinia, choanal atresia, and microphthalmia
B220-positive CD38-positive unswitched memory B cell
Autosomal recessive spastic paraplegia type 64
Glutathione synthetase deficiency without 5-oxoprolinuria
neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
tyrosine-protein kinase receptor Tie-1, soluble measurement
dyskinesia, limb and orofacial, infantile-onset
Genetic intestinal disease due to fat malabsorption
Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
growth hormone insensitivity syndrome with immune dysregulation
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Spastic paraplegia - facial-cutaneous lesions
Pulmonary arterial hypertension associated with congenital heart disease
developmental and epileptic encephalopathy, 65
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
nasal and broncial associated lymphoid tissue macrophage
SURF1-related Charcot-Marie-Tooth disease type 4
Autosomal recessive limb-girdle muscular dystrophy type 2J
neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
human papillomavirus-related squamous cell carcinoma
Brachymorphism - onychodysplasia - dysphalangism
signaling lymphocytic activation molecule 1 measurement
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
thrombotic disorder due to an acquired coagulation factors defect
microcephaly, growth restriction, and increased sister chromatid exchange 2
Severe neurodegenerative syndrome with lipodystrophy
interstitial lung disease in childhood and adulthood
Sex Hormone-Producing Adrenal Cortex Adenoma
Mitochondrial disorder due to a defect in mitochondrial protein synthesis
severe combined immunodeficiency due to CTPS1 deficiency
Generalized resistance to thyroid hormone
X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature
extended oligoarticular juvenile idiopathic arthritis
Autosomal recessive spastic paraplegia type 43
Severe combined immunodeficiency due to DCLRE1C deficiency
Salmonella enterica subsp. enterica serovar Choleraesuis
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Methylmalonic acidemia with homocystinuria, type cblX
multiple keratinocyte carcinoma susceptibility measurement
Partial duplication of the long arm of chromosome 11
benign male reproductive system neoplasm
Congenital hereditary endothelial dystrophy type I
Congenital disorder of glycosylation with deafness as a major feature
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
developmental and epileptic encephalopathy, 84
Double outlet right ventricle, Fallot type
distal portion of anterior interventricular branch of left coronary artery
Silver-Russell syndrome due to 11p15 microduplication
multiple mitochondrial dysfunctions syndrome 6
primary interstitial lung disease specific to adulthood
X-linked Charcot-Marie-Tooth disease type 5
Early-onset autosomal dominant Alzheimer disease
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Qualitative or quantitative defects of integrin alpha-7
Familial clubfoot with or without associated lower limb anomalies
Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
autoimmune disease of gastrointestinal tract
Hypothalamic hamartomas with gelastic seizures
non-syndromic urogenital tract malformation of female
X-linked intellectual disability, Turner type
Thrombocytopenia with congenital dyserythropoietic anemia
killer cell immunoglobulin-like receptor 2DL4 measurement
Microcephaly - cervical spine fusion anomalies
obsolete_cranial division of the internal carotid artery
Autosomal ichthyosis syndrome with fatal disease course
Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
Congenital insensitivity to pain with hyperhidrosis
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
Autosomal recessive multiple pterygium syndrome
Partial deletion of the short arm of chromosome 12
Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
Rare hereditary neurologic disease with peripheral neuropathy
Colorectal Diffuse Large B-Cell Lymphoma
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
Progressive supranuclear palsy - corticobasal syndrome
Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
Autosomal dominant optic atrophy and cataract
Paternal uniparental disomy of chromosome 14
Genetic hyperferritinemia without iron overload
MAP kinase-activated protein kinase 2 measurement
B220-low CD38-positive unswitched memory B cell
Microcephalic osteodysplastic primordial dwarfism types I and III
juvenile arthritis due to defect in LACC1
Kit-negative, Ly-76 high orthochromatophilic erythroblasts
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Syndromic neurometabolic disease with non-X-linked intellectual disability
Microcephaly - seizures - intellectual disability - heart disease
metal transport or utilization disorder with epilepsy
Partial duplication of the short arm of chromosome 6
mental retardation, autosomal dominant 57
Atypical hemolytic-uremic syndrome with B factor anomaly
intellectual disability, autosomal dominant 49
breast-ovarian cancer, familial, susceptibility to, 2
obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities
whole plant fruit ripening complete stage
Autosomal dominant rhegmatogenous retinal detachment
Congenital or early infantile CACH syndrome
Mesoaxial synostotic syndactyly with phalangeal reduction
Benign recurrent intrahepatic cholestasis type 1
Hereditary thrombocytosis with transverse limb defect
thrombotic disorder due to a platelet anomaly
Autosomal dominant Charcot-Marie-Tooth disease type 2D
persistent oligoarticular juvenile idiopathic arthritis
Genetic pigmentation anomaly of the skin
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Excretory apparatus of the lacrimal system anomaly
Ovarian Tumor of the Thecoma/Fibroma Group
primary interstitial lung disease in childhood and adulthood
infectious disease with peripheral neuropathy
X-linked intellectual disability-retinitis pigmentosa syndrome
benign female reproductive system neoplasm
46,XX testicular disorder of sex development
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Neurometabolic disorder due to serine deficiency
Constitutional megaloblastic anemia due to folate metabolism disorder
intellectual developmental disorder, x-linked, syndromic, Hackmann-Di Donato type
Turner syndrome due to structural X chromosome anomalies
Multiple epiphyseal dysplasia, Al-Gazali type
class I glucose-6-phosphate dehydrogenase deficiency
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Arachnodactyly - intellectual disability - dysmorphism
Maternal uniparental disomy of chromosome 14
generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
embryonal tumor of neuroepithelial tissue
mesenchymal stem cell of the bone marrow
Sudden infant death - dysgenesis of the testes
Horizontal gaze palsy with progressive scoliosis
Early infantile epileptic encephalopathy without suppression burst
Short tarsus - absence of lower eyelashes
Recurrent infection due to specific granule deficiency
Autosomal dominant epilepsy with auditory features
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Growth delay - hydrocephaly - lung hypoplasia
Salmonella enterica subsp. enterica serovar Kentucky
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Hemoglobin G Coushatta to Total Hemoglobin Ratio Measurement
pervasive developmental disorder - not otherwise specified
Double outlet right ventricle with subaortic ventricular septal defect
Dysmorphism - conductive hearing loss - heart defect
Craniosynostosis - dysmorphism - brachydactyly
obsolete_malignant peripheral nerve sheath tumor class
Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
posterior cingulate cortex volume measurement
secondary interstitial lung disease specific to adulthood associated with a systemic disease
X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior
CD4-negative, CD8-negative type I NK T cell
Niemann-Pick disease type C, severe early infantile neurologic onset
Adult-onset distal myopathy due to VCP mutation
teratocarcinoma-derived growth factor 1 measurement
developmental and epileptic encephalopathy, 12
Congenital plasminogen activator inhibitor type 1 deficiency
Ptosis - syndactyly - learning difficulties
Familial ocular anterior segment mesenchymal dysgenesis
X-linked intellectual disability with isolated growth hormone deficiency
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Microcephaly - brain defect - spasticity - hypernatremia
diffuse large B-cell lymphoma of the central nervous system
Mitochondrial disease with hypertrophic cardiomyopathy
Diaphyseal medullary stenosis - bone malignancy
Congenital fibrosis of extraocular muscles
Primary pigmented nodular adrenocortical disease
ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
CD11b-positive, CD27-positive natural killer cell, mouse
Polyneuropathy - intellectual disability - acromicria - premature menopause
Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell
combined oxidative phosphorylation deficiency 43
histidinuria due to a renal tubular defect
Motor developmental delay due to 14q32.2 paternally expressed gene defect
Autosomal recessive ataxia due to ubiquinone deficiency
Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
mental retardation, autosomal dominant 52
non-syndromic urogenital tract malformation of male
cerebellar atrophy, developmental delay, and seizures
Hematological disorder with renal involvement
Multiple epiphyseal dysplasia, Lowry type
IgG-negative class switched memory B cell
Spondylocostal dysostosis - hypospadias - intellectual disability
Congenital generalized hypertrichosis, Ambras type
Hereditary sensory and autonomic neuropathy type 2
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
MAP kinase-activated protein kinase 3 measurement
vascular endothelial growth factor receptor 2 measurement
Charcot-Marie-Tooth disease axonal type 2CC
Atypical hemolytic-uremic syndrome with H factor anomaly
Microcephalic osteodysplastic primordial dwarfism type II
Rare disease with thoracic aortic aneurysm and aortic dissection
susceptibility to cold sores measurement
Epidermolysis bullosa simplex due to plakophilin deficiency
bronchial smooth muscle cell derived cell line
cleft palate with or without ankyloglossia, X-linked
energy metabolism disorder with epilepsy
vitamin K-dependent clotting factors, combined deficiency of, type 2
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Partial deletion of the short arm of chromosome 6
Ataxia - hypogonadism - choroidal dystrophy
Rhizomelic chondrodysplasia punctata type 1
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Huntington disease-like syndrome due to C9ORF72 expansions
Kit-positive, Sca1-positive common lymphoid progenitor
neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
progeroid features-hepatocellular carcinoma predisposition syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2F
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Benign recurrent intrahepatic cholestasis type 2
Breast Carcinoma by Gene Expression Profile
X-linked sideroblastic anemia with ataxia
Xeroderma pigmentosum complementation group A
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
endothelial cell-selective adhesion molecule measurement
Genetic syndrome with limb reduction defects
uterine corpus mixed epithelial and mesenchymal neoplasm
epilepsy, hearing loss, and mental retardation syndrome
classic or attenuated familial adenomatous polyposis
Disorder of sex development - intellectual disability
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
chronic rhinosinusitis without nasal polyps
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Polymicrogyria with optic nerve hypoplasia
Severe combined immunodeficiency due to adenosine deaminase deficiency
Ichthyosis - hypotrichosis - sclerosing cholangitis
adipose tissue derived mesenchymal stem cell
short stature-brachydactyly-obesity-global developmental delay syndrome
obsolete periodic fever, menstrual cycle-dependent
Qualitative or quantitative defects of selenoprotein N1
Maternal uniparental disomy of chromosome 16
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Monocytopenia with susceptibility to infections
Lethal neonatal spasticity-epileptic encephalopathy syndrome
Autosomal dominant spastic paraplegia type 9
Congenital ichthyosis - microcephalus - tetraplegia
persistent Staphylococcus aureus carrier status
Cystic fibrosis - gastritis - megaloblastic anemia
Abnormal liver function tests during pregnancy
X-linked intellectual disability, Martinez type
primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
Male infertility due to sperm motility disorder
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Prochlorococcus marinus subsp. pastoris str. CCMP1986
Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
endoplasmic reticulum aminopeptidase 1 measurement
response to serotonin-norephinephrine reuptake inhibitor
leucine carboxyl methyltransferase 1 measurement
Spondylocostal dysostosis - anal and genitourinary malformations
Double outlet right ventricle with subpulmonary ventricular septal defect
Major Salivary Gland Carcinoma ex Pleomorphic Adenoma
Hemoglobin Lepore to Total Hemoglobin Ratio Measurement
Isolated lissencephaly type 1 without known genetic defects
Postaxial polydactyly of toes, bilateral
rare epithelial tumor of liver and intrahepatic biliary tract
Hereditary hypotrichosis with recurrent skin vesicles
Distal myopathy with posterior leg and anterior hand involvement
thioredoxin domain-containing protein 12 measurement
Dynein arm defect of respiratory motile cilia
Kunitz-type protease inhibitor 1 measurement
Autosomal dominant slowed nerve conduction velocity
CD25-positive, CD27-positive immature gamma-delta T cell
ATC Code L Antineoplastic and immunomodulating agents
Combined oxidative phosphorylation defect type 2
Genetic syndrome with a Dandy-Walker malformation as major feature
brain small vessel disease 1 with or without ocular anomalies
Fatal multiple mitochondrial dysfunction syndrome type 1
Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
Intellectual disability - microcephaly - phalangeal - facial abnormalities
Segmented Neutrophils to Neutrophils Ratio Measurement
Infantile-onset ascending hereditary spastic paralysis
Autosomal recessive hereditary demyelinating motor and sensory neuropathy
Ectodermal dysplasia - sensorineural deafness
non-syndromic urogenital tract malformation of male and female
immune-mediated acquired neuromuscular junction disease
perinatal jaundice due to hepatocellular damage
Autosomal recessive spastic paraplegia type 56
CD38-negative IgG-negative class switched memory B cell
Progressive retinal dystrophy due to retinol transport defect
Deafness - ear malformation - facial palsy
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
combined oxidative phosphorylation deficiency 45
Combined oxidative phosphorylation defect type 14
caudal middle frontal gyrus volume measurement
Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
mixed autoinflammatory and autoimmune syndrome
Partial deletion of the short arm of chromosome 2
quantitative and/or qualitative congenital phagocyte defect
ATC Code G Genito-urinary system and sex hormones
Okihiro syndrome due to 20q13 microdeletion
response to platinum-based neoadjuvant chemotherapy
vertebral, cardiac, renal, and limb defects syndrome 1
Partial deletion of the long arm of chromosome X
chorea, childhood-onset, with psychomotor retardation
Abnormal morphology of left ventricular trabeculae
spastic paraplegia 80, autosomal dominant
pulmonary fibrosis and/or bone marrow failure, telomere-related
microcephaly, developmental delay, and brittle hair syndrome
Benign concentric annular macular dystrophy
Submandibular Gland Adenoid Cystic Carcinoma
Hereditary sclerosing poikiloderma, Weary type
Familial isolated hypoparathyroidism due to impaired PTH secretion
vascular endothelial growth factor receptor 3 measurement
SE.02 two nodes or internodes visible stage
Gallbladder Small Cell Neuroendocrine Carcinoma
Partial trisomy/tetrasomy of chromosome 9
intellectual disability, autosomal dominant 50
Ankylosing vertebral hyperostosis with tylosis
Severe neonatal-onset encephalopathy with microcephaly
Mitochondrial disease with peripheral neuropathy
Congenital enteropathy due to enteropeptidase deficiency
CD34-positive, CD38-positive common myeloid progenitor
limb-girdle muscular dystrophy-dystroglycanopathy, type c1
Staphylococcus aureus subsp. aureus NCTC 8325
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
refractory anemia with ringed sideroblasts
Brachytelephalangy - dysmorphism - Kallmann syndrome
Maternal uniparental disomy of chromosome 20
Skeletal dysplasia - epilepsy - short stature
central nervous system organ benign neoplasm
palmoplantar keratoderma i, striate, focal, or diffuse
childhood central nervous system primitive neuroectodermal neoplasm
Autosomal dominant spastic paraplegia type 10
intellectual developmental disorder with short stature and behavioral abnormalities
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
X-linked intellectual disability with marfanoid habitus
X-linked neurodegenerative syndrome, Bertini type
combined oxidative phosphorylation deficiency 44
Hemoglobin O-Arab to Total Hemoglobin Ratio Measurement
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Partial deletion of the short arm of chromosome 18
Autosomal recessive spastic paraplegia type 27
leukocyte immunoglobulin-like receptor subfamily B member 1 measurement
Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
Autosomal dominant multiple pterygium syndrome
Qualitative or quantitative defects of alphaB-cristallin
Microcephaly-thin corpus callosum-intellectual disability syndrome
Major Salivary Gland Mucoepidermoid Carcinoma
lymphoid lineage restricted progenitor cell
Disorder of neutral amino acid transport
Prominent glabella - microcephaly - hypogenitalism
obsolete_inferior ganglion of vagus nerve
Partial deletion of the short arm of chromosome 9
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
carcinoma of liver and intrahepatic biliary tract
response to allogeneic hematopoietic stem cell transplant
Non-acquired combined pituitary hormone deficiency
Charcot-Marie-Tooth disease - deafness - intellectual disability
Renal tubulopathy - encephalopathy - liver failure
mitochondrial complex III deficiency nuclear type 1
obsolete_distal portion of anterior interventricular branch of left coronary artery
Mitochondrial DNA depletion syndrome, encephalomyopathic form
Continuous spikes and waves during sleep
Hemoglobin S to Total Hemoglobin Ratio Measurement
Contractures of the joints of the lower limbs
Autosomal recessive spastic paraplegia type 55
proprotein convertase subtilisin/kexin type 9 measurement
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
combined oxidative phosphorylation deficiency 35
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
intellectual disability, autosomal dominant 9
Salmonella enterica subsp. enterica serovar Thompson
CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell
neurodevelopmental disorder and language delay with or without structural brain abnormalities
Pelizaeus-Merzbacher disease in female carriers
Autosomal ichthyosis syndrome with other associated signs
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Salmonella enterica subsp. enterica serovar Gallinarum
obsolete_embryonic central brain mushroom body
Cardiomyopathy - cataract - hip spine disease
Short stature - pituitary and cerebellar defects - small sella turcica
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Craniometadiaphyseal dysplasia, wormian bone type
congenital pulmonary venous return anomaly
Methylmalonic aciduria due to transcobalamin receptor defect
Cerebellar ataxia with peripheral neuropathy
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Congenital nephrotic syndrome, Finnish type
Intellectual disability - myopathy - short stature - endocrine defect
immunoskeletal dysplasia with neurodevelopmental abnormalities
vertebral, cardiac, renal, and limb defects syndrome 2
Lethal occipital encephalocele-skeletal dysplasia syndrome
Ectopia lentis - chorioretinal dystrophy - myopia
Pancreatic beta cell agenesis with neonatal diabetes mellitus
Autosomal recessive lower motor neuron disease with childhood onset
Familial partial lipodystrophy associated with PPARG mutations
CD38-positive IgG-negative class switched memory B cell
Intellectual disability - balding - patella luxation - acromicria
Female infertility due to gonadal dysgenesis
symbiosis, encompassing mutualism through parasitism
Autosomal dominant spastic paraplegia type 31
low affinity immunoglobulin epsilon Fc receptor measurement
Hereditary continuous muscle fiber activity
Absent tibia - polydactyly - arachnoid cyst
Congenital disorder of glycosylation with neurological involvement
mediator of RNA polymerase II transcription subunit 1 measurement
Congenital enterocyte heparan sulfate deficiency
Prader-Willi syndrome due to imprinting mutation
Paternal uniparental disomy of chromosome 5
Brachydactyly - mesomelia - intellectual disability - heart defects
Partial deletion of the long arm of chromosome 11
Syndromic neurometabolic disease with X-linked intellectual disability
Epstein-Barr virus-associated malignant lymphoproliferative disorder
ATC Code H Systemic hormonal preparations, excluding sex hormones and insulins
Diaphragmatic defect - limb deficiency - skull defect
intellectual disability, autosomal dominant 51
Severe combined immunodeficiency due to IKK2 deficiency
Short ulna - dysmorphism - hypotonia - intellectual disability
infection due to clostridium perfringens
Pierre Robin syndrome associated with a chromosomal anomaly
Seizures - intellectual disability due to hydroxylysinuria
cystic malformation of the posterior fossa
Anomaly of the secretory and excretory apparatus of the lacrimal system
low affinity immunoglobulin gamma Fc region receptor III-B measurement
intellectual developmental disorder with speech delay, autism and dysmorphic facies
Paternal uniparental disomy of chromosome X
Primary hypomagnesemia with secondary hypocalcemia
Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
secondary interstitial lung disease in childhood and adulthood
Generalized arterial calcification of infancy
Pachygyria - intellectual disability - epilepsy
Aromatic L-amino acid decarboxylase deficiency
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
Delayed speech - facial asymmetry - strabismus - ear lobe creases
arthrogryposis, Perthes disease, and upward gaze palsy
cone-rod synaptic disorder syndrome, congenital nonprogressive
Autosomal recessive spastic paraplegia type 28
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
petal differentiation and expansion stage
myeloid lineage restricted progenitor cell
Prader-Willi syndrome due to translocation
Koolen-De Vries syndrome due to a point mutation
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Maternal uniparental disomy of chromosome 21
chronic rhinosinusitis with nasal polyps
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
Microcephaly - glomerulonephritis - marfanoid habitus
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
rare disease with malignant hyperthermia
Ichthyosis follicularis - alopecia - photophobia
brain abnormalities, neurodegeneration, and dysosteosclerosis
Müllerian derivatives - lymphangiectasia - polydactyly
Lupus Vasculitis, Central Nervous System
Double outlet right ventricle with doubly committed ventricular septal defect
intellectual developmental disorder with dysmorphic facies and ptosis
Autosomal dominant childhood-onset cortical cataract
Qualitative or quantitative defects of filamin C
Craniosynostosis - Dandy-Walker malformation - hydrocephalus
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
polycystic liver disease 3 with or without kidney cysts
microvascular complications of diabetes, susceptibility
Partial deletion of the long arm of chromosome 19
Partial deletion of the long arm of chromosome 7
refractory cytopenia with multilineage dysplasia
Nicotiana langsdorffii x Nicotiana sanderae
intellectual disability, autosomal dominant 41
Genetic frontotemporal degeneration with dementia
obsolete_distal portion of circumflex branch of left coronary artery
Keratosis follicularis - dwarfism - cerebral atrophy
Non-syndromic respiratory or mediastinal malformation
fatty acid-binding protein, adipocyte measurement
splenic diffuse red pulp small B-cell lymphoma
Intellectual disability - hypotonia - skin hyperpigmentation
Macrocephaly - short stature - paraplegia
Medium chain acyl-CoA dehydrogenase deficiency
Lethal congenital contracture syndrome type 2
naive thymus-derived CD8-positive, alpha-beta T cell
Myopathy due to calsequestrin and SERCA1 protein overload
Salmonella enterica subsp. enterica serovar Infantis
Disorder of vitamin and non-protein cofactor absorption and transport 
Short stature - craniofacial anomalies - genital hypoplasia
assay by Fluidigm C1 microfluidics platform
Neonatal acute respiratory distress with surfactant metabolism deficiency
Distal myopathy with vocal cord weakness
mental retardation, autosomal dominant 58
Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
Multisystemic smooth muscle dysfunction syndrome
central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor
Keratoderma hereditarium mutilans with ichthyosis
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
Other immunodeficiency syndrome with predominantly antibody defects
lip and oral cavity squamous cell carcinoma
Hereditary site-specific ovarian cancer syndrome
corpus collosum mid-posterior volume measurement
family history of upper gastrointestinal cancer
Hypertelorism - hypospadias - polysyndactyly syndrome
Isolated Dandy-Walker malformation with hydrocephalus
Epibulbar lipodermoid - preauricular appendage - polythelia
Isolated growth hormone deficiency type IB
low affinity immunoglobulin gamma Fc region receptor II-a/b measurement
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
metabolic neurotransmission anomaly with epilepsy
disorder of lectin complement activation pathway
Paternal uniparental disomy of chromosome 6
Partial deletion of the long arm of chromosome 20
intellectual disability, autosomal dominant 52
Generalized basaloid follicular hamartoma syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Hypogonadotropic hypogonadism - frontoparietal alopecia
Autosomal dominant Charcot-Marie-Tooth disease type 2P
Alpha-B crystallin-related late-onset distal myopathy
Malformative syndrome with dentinogenesis imperfecta
high content screen of cells in a gene deletion library
CD94-positive natural killer cell, mouse
X-linked thrombocytopenia with normal platelets
Intellectual disability - cataracts - calcified pinnae - myopathy
Autosomal dominant focal dystonia, DYT7 type
Gonadal dysgenesis, XY type - associated anomalies
Genetic syndrome with limb malformations as a major feature
Peritoneal Well Differentiated Papillary Mesothelioma
intellectual developmental disorder, autosomal recessive 72
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
cot filtration for single or low copy genomic DNA
anti-Kaposi's sarcoma-associated herpesvirus antibody measurement
Partial monosomy of the short arm of chromosome X
Autosomal dominant non-syndromic sensorineural deafness type DFNA
Qualitative or quantitative defects of plectin
Pancreatic hypoplasia - diabetes - congenital heart disease
Autosomal dominant nocturnal frontal lobe epilepsy
Lethal hemolytic anemia - genital anomalies
array scanning and feature extraction protocol
Non-acquired isolated growth hormone deficiency
Ichthyosis - hepatosplenomegaly - cerebellar degeneration
Maternal uniparental disomy of chromosome 22
Autosomal thrombocytopenia with normal platelets
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Syndromic multisystem autoimmune disease due to Itch deficiency
Anomaly of puberty or/and menstrual cycle of genetic origin
Methemoglobin to Total Hemoglobin Ratio Measurement
Short stature - intellectual disability - eye anomalies - cleft lip/palate
NK1.1-positive natural killer cell, mouse
malignant hyperthermia, susceptibility to, 1
immature CD8_alpha-negative CD11b-negative dendritic cell
tumor grade 1 or 2, general grading system
Rare female infertility due to an anomaly of ovarian function of genetic origin
Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
intellectual developmental disorder with neuropsychiatric features
Glycogen storage disease with hypertrophic cardiomyopathy
Autosomal dominant spastic paraplegia type 29
Prader-Willi syndrome due to point mutation
APC-related attenuated familial adenomatous polyposis
rare parathyroid disease and phosphocalcic metabolism anomaly
encounter with health service related to reproduction
CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
intellectual disability - sparse hair - brachydactyly
central nervous system primitive neuroectodermal neoplasm
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
obsolete_embryonic central brain pars intercerebralis
ATC Code P Antiparasitic products, insecticides and repellents
Atypical hypotonia - cystinuria syndrome
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
intellectual disability, autosomal dominant 56
left superior temporal gyrus grey matter volume measurement
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Autosomal recessive spastic paraplegia type 48
Oculomotor apraxia or related oculomotor disease
Acrodysostosis with multiple hormone resistance
short stature with microcephaly and distinctive facies
Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
Macular coloboma - cleft palate - hallux valgus
mental retardation, autosomal dominant 48
Beckwith-Wiedemann syndrome due to NSD1 mutation
autosomal dominant nonsyndromic deafness 2A
single cell library construction protocol
Pili torti - developmental delay - neurological abnormalities
Salmonella enterica subsp. enterica serovar Muenchen
Isolated focal cortical dysplasia type Ia
Cavernous hemangiomas of face - supraumbilical midline raphe
Glaucoma associated with neural crest cell migration anomaly
Familial clubfoot due to 5q31 microdeletion
high content screen of cells treated with library of siRNAs
delta/notch like EGF Repeat Containing protein measurement
Recessive dystrophic epidermolysis bullosa inversa
Paternal uniparental disomy of chromosome 7
polyarticular juvenile idiopathic arthritis, rheumatoid factor positive
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
Multiple epiphyseal dysplasia, with miniepiphyses
sterol metabolism disorder with epilepsy
Congenital pseudoarthrosis of the radius
Sporadic idiopathic steroid-resistant nephrotic syndrome
Rare thrombotic disorder due to a constitutional coagulation factors defect
ovarian monodermal and highly specialized teratoma
Congenital myopathy with excess of thin filaments
extracellular matrix protein 1 measurement
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
Autosomal dominant intermediate Charcot-Marie-Tooth disease
high content screen of cells in treated with a compound library
CD94-negative, Ly49CI-negative natural killer cell, mouse
AIDS-Related Primary Central Nervous System Lymphoma
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GATA2 deficiency with susceptibility to MDS/AML
Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
corpus callosum anterior volume measurement
Salmonella enterica subsp. enterica serovar Senftenberg
Other immunodeficiency syndromes due to defects in innate immunity
cot filtration for moderately repetitive genomic DNA
Pierre Robin syndrome - faciodigital anomaly
Genetic keratinization disorder associated with ocular features
Autosomal recessive ataxia due to PEX10 deficiency
Autosomal recessive non-syndromic sensorineural deafness type DFNB
Fibulo-ulnar hypoplasia - renal anomalies
Hereditary sensory and autonomic neuropathy
Acute myeloid leukemia with CEBPA somatic mutations
Autosomal recessive congenital cerebellar ataxia
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Pasteurella multocida subsp. multocida str. Pm70
Macrosomia - microphthalmia - cleft palate
Isolated Dandy-Walker malformation without hydrocephalus
Salmonella enterica subsp. enterica serovar Heidelberg
non-proliferative fibrocystic change of the breast
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Low Grade Vulvar Intraepithelial Neoplasia
Spinal muscular atrophy - Dandy-Walker malformation - cataracts
X-linked myopathy with postural muscle atrophy
spastic tetraplegia and axial hypotonia, progressive
Arrhinia - choanal atresia - microphthalmia
mature CD8_alpha-negative CD11b-negative dendritic cell
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
tumor grade 2 or 3, general grading system
Genetic renal or urinary tract malformation
Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Oxyhemoglobin to Total Hemoglobin Ratio Measurement
46,XY disorder of sex development due to cholesterol synthesis defect
NKGA2-positive natural killer cell, mouse
Mus musculus musculus x M. m. domesticus
Adult-onset autosomal recessive cerebellar ataxia
Steroid dehydrogenase deficiency - dental anomalies
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
intellectual disability, autosomal recessive 65
Beta-thalassemia associated with another hemoglobin anomaly
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Familial adenomatous polyposis due to 5q22.2 microdeletion
mental retardation with language impairment
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
encounter with health service related to socioeconomic and psychosocial circumstances
viral infection of central nervous system
CD34-negative, CD41-positive, CD42-positive megakaryocyte cell
urinary tract non-invasive transitional cell neoplasm
extragonadal nonseminomatous germ cell tumor
X-linked intellectual disability - seizures - psoriasis
Abnormality of blood and blood-forming tissues
immature dendritic epithelial T cell precursor
Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Short stature due to growth hormone qualitative anomaly
Autosomal dominant aplasia and myelodysplasia
Arabidopsis arenosa x Arabidopsis thaliana
Multiple epiphyseal dysplasia due to collagen 9 anomaly
purine nucleoside triphosphate metabolic process
obsolete_embryonic central brain surface glia
Autosomal recessive myogenic arthrogryposis multiplex congenita
Skeletal dysplasia - intellectual disability
Transient neonatal multiple acyl-CoA dehydrogenase deficiency
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
Progressive myoclonic epilepsy with dystonia
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
IgG-positive double negative memory B cell
Progressive supranuclear palsy - progressive non fluent aphasia
Atrophy/Degeneration affecting the central nervous system
contractures, pterygia, and variable skeletal fusions syndrome
Abnormal posterior cranial fossa morphology
MHC class I polypeptide-related sequence B measurement
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
neurodegeneration with brain iron accumulation 8
Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation
murine neuroblastoma cholinergic cell line
MSH3-related attenuated familial adenomatous polyposis
Stickler syndrome, type I, nonsyndromic ocular
Hereditary epidermolysis bullosa associated with ocular features
Sensorineural hearing loss - early graying - essential tremor
Disorder of lipid absorption and transport
substantia nigra and ventral tegmental area
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
nucleus of medial longitudinal fasciculus of medulla
neurodevelopmental disorder with midbrain and hindbrain malformations
combined oxidative phosphorylation deficiency 33
Ly49CI-positive natural killer cell, mouse
Oculocerebral hypopigmentation syndrome, Cross type
Disorder of beta and omega amino acid metabolism
Pilodental dysplasia - refractive errors
Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
Spinocerebellar ataxia with axonal neuropathy type 2
Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease
cot filtration for highly repetitive genomic DNA
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Malignant Ovarian Mixed Epithelial Tumor
syndrome with pulmonary hypertension as a major feature
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Ichthyosis associated with ocular features
rhizomelic limb shortening with dysmorphic features
sporadic fetal brain disruption sequence
Unilateral aplasia of the Müllerian ducts
Autosomal recessive metabolic cerebellar ataxia
Glycogen storage disease due to glucose-6-phosphatase deficiency type a
Congenital multicore myopathy with external ophthalmoplegia
Autosomal recessive cerebellar ataxia - psychomotor retardation
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
Autosomal dominant medullary cystic kidney disease with hyperuricemia
Methylation Spanning Linker Library (MSLL) processing
neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
mitochondrial complex V deficiency, nuclear type 6
Staphylococcus aureus subsp. aureus MRSA252
Sparse hair - short stature - skin anomalies
sialic acid-binding Ig-like lectin 14 measurement
mature CD8_alpha-negative CD11b-positive dendritic cell
Autosomal recessive spastic ataxia with leukoencephalopathy
tumor grade 3 or 4, general grading system
Rubinstein-Taybi syndrome due to CREBBP mutations
Short stature due to primary acid-labile subunit deficiency
neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
Congenital disorder of glycosylation with skin involvement
squamous cell breast carcinoma, acantholytic variant
Fallot complex - intellectual disability - growth delay
progressive external ophthalmoplegia with mitochondrial DNA deletions
Glomerulonephritis - sparse hair - telangiectasis
Trichorhinophalangeal syndrome type 1 and 3
pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Salmonella enterica subsp. enterica serovar Java
Nephropathy secondary to a storage or other metabolic disease
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
Multiple mitochondrial DNA deletion syndrome
purine ribonucleoside triphosphate metabolic process
Rare thrombotic disorder due to a constitutional platelet anomaly
Disorder of carbohydrate absorption and transport
Reticulocyte Corpuscular Hemoglobin Concentration Mean
Trichomegaly - cataract - hereditary spherocytosis
methylmalonic aciduria (cobalamin deficiency) cblA type
purine nucleoside triphosphate biosynthetic process
46,XY disorder of sex development due to isolated 17,20 lyase deficiency
Partial duplication of the short arm of chromosome 4
Genetic chronic primary adrenal insufficiency
Tumor necrosis factor receptor 1 associated periodic syndrome
Absence of fingerprints - congenital milia
Benign Ovarian Surface Epithelial-Stromal Tumor
ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Congenital muscular dystrophy due to dystroglycanopathy
Genetic disorder of sex development of gynecological interest
encounter with health service related to previous surgical history
Hypotonia-speech impairment-severe cognitive delay syndrome
monocyte chemotactic protein 3 measurement
Microcytic anemia with liver iron overload
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Colon Mucosa-Associated Lymphoid Tissue Lymphoma
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
Testicular Large Cell Calcifying Sertoli Cell Tumor
Pure or complex autosomal recessive spastic paraplegia
Ectodermal dysplasia - syndactyly syndrome
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Maternally-inherited cardiomyopathy and hearing loss
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
seizures, early-onset, with neurodegeneration and brain calcifications
developmental and epileptic encephalopathy, 83
Action myoclonus - renal failure syndrome
IgG-negative double negative memory B cell
Autosomal recessive limb-girdle muscular dystrophy type 2P
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Chronic diarrhea due to guanylate cyclase 2C overactivity
Hereditary acrokeratotic poikiloderma of Kindler-Weary
hemorrhagic disorder due to a coagulation factors defect
Partial duplication of the long arm of chromosome 17
EEG with generalized epileptiform discharges
Partial trisomy of the long arm of chromosome 5
Craniodigital syndrome - intellectual disability
autosomal dominant polycystic liver disease
Abnormality of the gastrointestinal tract
craniofacial anomalies and anterior segment dysgenesis syndrome
Ly49H-positive natural killer cell, mouse
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Reticulocyte Corpuscular Hemoglobin Distribution Width
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
mitochondrial complex 1 deficiency, nuclear type 34
cot filtration for theoretical single copy genomic DNA
Salmonella enterica subsp. enterica serovar Paratyphi B
Paternal uniparental disomy of chromosome 20
Autosomal recessive progressive external ophthalmoplegia
Blepharophimosis - ptosis - esotropia - syndactyly - short stature
Qualitative or quantitative defects of collagen 6
Staphylococcus aureus subsp. aureus str. Newman
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Leydig cell hypoplasia due to complete LH resistance
Qualitative or quantitative defects of protein SERCA1
Paired VH:VL Antibody Repertoire Analysis
X-linked intellectual disability - macrocephaly - macroorchidism
epilepsy with generalized tonic-clonic seizures
Neuromuscular disease with dilated cardiomyopathy
Ankyloblepharon - ectodermal defects - cleft lip/palate
46,XX disorder of sex development induced by androgens excess
spondyloepimetaphyseal dysplasia, di rocco type
neurodevelopmental disorder with absent language and variable seizures
regional variant of Guillain-Barre syndrome
coronary artery raised atherosclerotic lesion
Central polydactyly of fingers, bilateral
Partial duplication of the long arm of chromosome 14
Inflexible adherence to routines or rituals
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Aplasia/Hypoplasia of the corpus callosum
Syndromic ichthyosis associated with ocular features
congenital insensitivity to pain-hypohidrosis syndrome
myopathy, congenital, with respiratory insufficiency and bone fractures
tumoral calcinosis, hyperphosphatemic, familial, 2
Autosomal recessive cerebellar ataxia due to a DNA repair defect
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Spastic paraplegia - nephritis - deafness
Autosomal dominant cerebellar ataxia type 2
disorder of fatty acid oxidation and ketogenesis
Isolated focal cortical dysplasia type IIa
Glycogen storage disease due to GLUT2 deficiency
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
pontine autosomal dominant microangiopathy with leukoencephalopathy
Congenital unilateral hypoplasia of depressor anguli oris
Photorhabdus luminescens subsp. laumondii TTO1
colon small cell neuroendocrine carcinoma
Autosomal recessive syndromic cerebellar ataxia
Primary immunodeficiency due to a defect in innate immunity
Staphylococcus aureus subsp. aureus MSSA476
Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma
dorsolateral prefrontal cortex functional measurement
Trichomegaly - retina pigmentary degeneration - dwarfism
sialic acid-binding Ig-like lectin 6 measurement
immature CD8_alpha-positive CD11b-negative dendritic cell
purine ribonucleoside triphosphate biosynthetic process
T-B+ severe combined immunodeficiency due to JAK3 deficiency
methylation profiling by high throughput sequencing
Female infertility due to an implantation defect of genetic origin
X-linked intellectual disability - hypotonic face
malignant giant cell tumor of soft parts
Glycogen storage disease due to phosphoglucomutase deficiency
Obesity due to congenital leptin resistance
CD16-negative, CD56-bright natural killer cell, human
Syndrome associated with Pierre Robin syndrome
pituitary hormone deficiency secondary to a granulomatous disease
charcot-marie-tooth disease, axonal, type 2t
Congenital brain dysgenesis due to glutamine synthetase deficiency
congenital anomalies of kidney and urinary tract 1, susceptibility to
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
short-rib thoracic dysplasia 10 with or without polydactyly
high throughput sequence alignment protocol
Congenital cataracts - facial dysmorphism - neuropathy
Hereditary sensory and autonomic neuropathy type 7
fasting blood glucose change measurement
Glycogen storage disease due to acid maltase deficiency, adult onset
X-linked intellectual disability - spastic quadriparesis
Congenital disorder of glycosylation-related bone disorder
Short rib-polydactyly syndrome, Saldino-Noonan type
fever-associated acute infantile liver failure syndrome
Proximal myopathy with extrapyramidal signs
Postaxial polydactyly - dental and vertebral anomalies
Saccharomyces cerevisiae x Saccharomyces kudriavzevii
Male infertility with spermatogenesis disorder due to single gene mutation
Partial monosomy of the long arm of chromosome 10
Aortic arch anomaly - peculiar facies - intellectual disability
Brain malformation - congenital heart disease - postaxial polydactyly
Desmin-related myopathy with Mallory body-like inclusions
Odontomatosis - aortae esophagus stenosis
carotid artery external diameter measurement
Primary bone dysplasia with disorganized development of skeletal components
46,XY disorder of sex development due to impaired androgen production
central nervous system hematopoietic neoplasm
Stapes ankylosis with broad thumbs and toes
Split hand or/and split foot malformation
ovarian clear cell malignant adenofibroma
Acrodermatitis continua suppurativa of Hallopeau
Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
Autosomal recessive systemic lupus erythematosus
hemorrhagic disorder due to a platelet anomaly
X-linked mendelian susceptibility to mycobacterial diseases
cytological, histological or immunological finding
Autosomal recessive spastic paraplegia type 63
Salmonella enterica subsp. enterica serovar Paratyphi A
Autosomal dominant cerebellar ataxia type 1
Hereditary myoclonus - progressive distal muscular atrophy
Müllerian duct anomalies - limb anomalies
Mowat-Wilson syndrome due to monosomy 2q22
Benign familial nocturnal alternating hemiplegia of childhood
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
whole plant fruit formation stage 70% to final size
Severe combined immunodeficiency due to LCK deficiency
microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Salmonella enterica subsp. enterica serovar Paratyphi C
hepatitis B virus induced hepatocellular carcinoma
Combined immunodeficiency due to DOCK8 deficiency
Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Impaired vibration sensation in the lower limbs
malignant tumor of extrahepatic bile duct
Solid Pseudopapillary Neoplasm of the Pancreas
Lysosomal disease with restrictive cardiomyopathy
Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
Leydig cell hypoplasia due to partial LH resistance
Paternal uniparental disomy of chromosome 21
Genetic susceptibility to infections due to particular pathogens
secondary interstitial lung disease specific to childhood associated with a systemic disease
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Deafness - intellectual disability, Martin-Probst type
mature CD16-positive myeloid dendritic cell
Glycogen storage disease due to LAMP-2 deficiency
CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell
Ly49D-negative natural killer cell, mouse
interleukin 7 receptor subunit alpha measurement
Ankyloblepharon filiforme adnatum - cleft palate
Congenital myopathy with internal nuclei and atypical cores
Partial deletion of the short arm of chromosome 19
X-linked complicated spastic paraplegia type 1
Cataract - intellectual disability - anal atresia - urinary defects
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
duodenal neuroendocrine tumor, well differentiated, low or intermediate grade
Early-onset myopathy with fatal cardiomyopathy
Partial deletion of the short arm of chromosome 4
Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
acute myeloblastic leukemia without maturation
Autosomal recessive cerebellar ataxia - blindness - deafness
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Spastic paraplegia - neuropathy - poikiloderma
myopathy, congenital proximal, with minicore lesions
tumoral calcinosis, hyperphosphatemic, familial, 3
encephalitis/encephalopathy, mild, with reversible myelin vacuolization
Congenital ichthyosis - intellectual disability - spastic quadriplegia
Autosomal dominant hereditary sensory and autonomic neuropathy
Autosomal recessive degenerative and progressive cerebellar ataxia
P-selectin glycoprotein ligand 1 measurement
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
diaph1-related sensorineural hearing loss-thrombocytopenia syndrome
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Epithelioid Malignant Peripheral Nerve Sheath Tumor
Hereditary sensory and autonomic neuropathy type 6
X-linked intellectual disability due to GRIA3 anomalies
Ichthyosis - intellectual disability - dwarfism - renal impairment
Hereditary proximal myopathy with early respiratory failure
effector memory CD8-positive, alpha-beta T cell
Familial omphalocele syndrome with facial dysmorphism
Neurodegenerative syndrome due to cerebral folate transport deficiency
sialic acid-binding Ig-like lectin 9 measurement
neuropathy, hereditary motor and sensory, type vib
mature CD8_alpha-positive CD11b-negative dendritic cell
Congenital absence/hypoplasia of fingers excluding thumb
Autosomal dominant limb-girdle muscular dystrophy type 1H
Familial clubfoot due to 17q23.1q23.2 microduplication
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
developmental delay and seizures with or without movement abnormalities
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Qualitative or quantitative defects of troponin
Hemolytic anemia due to glucophosphate isomerase deficiency
negative regulation of renal sodium excretion
pituitary hormone deficiency secondary to storage disease
Rare constitutional hemolytic anemia due to a red cell membrane anomaly
digestive system neuroendocrine tumor, grade 1/2
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
type II diabetes mellitus with acanthosis nigricans
Autosomal dominant optic atrophy, classic type
primary familial polycythemia due to EPO receptor mutation
insulin metabolic clearance rate measurement
hemolytic uremic syndrome, atypical, susceptibility to, 1
Intellectual disability - craniofacial dysmorphism - cryptorchidism
X-linked intellectual disability - short stature - obesity
Hereditary sensory and autonomic neuropathy with deafness and global delay
Short rib-polydactyly syndrome, Verma-Naumoff type
GDNF family receptor alpha-2 measurement
Isolated growth hormone deficiency type IA
Thyroid Gland Oncocytic Follicular Carcinoma
Progressive non-infectious anterior vertebral fusion
Autosomal recessive Charcot Marie Tooth disease type 2X
Glycerol kinase deficiency, juvenile form
CD16-positive, CD56-dim natural killer cell, human
intellectual developmental disorder with hypotonia and behavioral abnormalities
Partial deletion of the short arm of chromosome 11
IgD-positive CD38-positive IgG memory B cell
lethal multiple congenital anomalies/dysmorphic syndrome
thyrotoxic periodic paralysis, susceptibility to, 1
Congenital dyserythropoietic anemia type I
Male infertility due to gonadal dysgenesis
Congenital hereditary endothelial dystrophy type II
immature CD11c-low plasmacytoid dendritic cell
Familial congenital palsy of trochlear nerve
Metabolic disease associated with ocular features
Autosomal dominant childhood-onset proximal spinal muscular atrophy
Partial deletion of the short arm of chromosome 8
neutropenia, severe congenital, 8, autosomal dominant
developmental delay, intellectual disability, obesity, and dysmorphic features
Combined immunodeficiency due to ORAI1 deficiency
hepatitis C virus induced hepatocellular carcinoma
leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
Glycogen storage disease due to glucose-6-phosphatase deficiency
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Neurological conditions associated with aminoacylase 1 deficiency
validation by reverse transcription PCR design
Glycerol kinase deficiency, infantile form
microcephalic primordial dwarfism-insulin resistance syndrome
Non-eruption of teeth - maxillary hypoplasia - genu valgum
Dysmorphism - short stature - deafness - disorder of sex development
parkinsonian syndrome due to neurodegenerative disease
minor salivary gland adenoid cystic carcinoma
X-linked intellectual disability, Pai type
endometriosis of rectovaginal septum and vagina
Familial juvenile hyperuricemic nephropathy type 1
X-linked mixed deafness with perilymphatic gusher
pediatric acute respiratory distress syndrome
Limb transversal defect - cardiac anomaly
Phocomelia - ectrodactyly - deafness - sinus arrhythmia
Ly49CI-negative natural killer cell, mouse
disturbances of sensation of smell and taste
Syndrome with microcephaly as major feature
Qualitative or quantitative defects of nebulin
Autosomal recessive cerebellar ataxia - saccadic intrusion
Preaxial polydactyly of toes, unilateral
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Ocular Melanoma with Extraocular Extension
Ossification anomalies - psychomotor development delay
Eucalyptus grandis x Eucalyptus urophylla
jejunal neuroendocrine tumor, well differentiated, low or intermediate grade
Salmonella enterica subsp. enterica serovar Enteritidis
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Partial deletion of the long arm of chromosome 8
basal ganglia calcification, idiopathic, 8, autosomal recessive
secondary interstitial lung disease specific to childhood associated with a connective tissue disease
Preaxial polydactyly - colobomata - intellectual disability
Autosomal recessive spastic paraplegia type 11
C-C motif chemokine 3-like 1 measurement
Autosomal recessive limb-girdle muscular dystrophy type 2K
number of treatments or medications taken, self-reported
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Hemoglobin D to Total Hemoglobin Ratio Measurement
COL4A1 or COL4A2-related cerebral small vessel disease
skin disease caused by bacterial infection
neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
Macrostomia - preauricular tags - external ophthalmoplegia
thoracic aortic raised atherosclerotic lesion
acute myeloblastic leukemia with maturation
Kit-positive macrophage dendritic cell progenitor
Focal palmoplantar keratoderma with joint keratoses
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
obsolete_ChIP-seq by high throughput sequencing
Microcephaly - albinism - digital anomalies
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
positive regulation of renal sodium excretion
Spinal muscular atrophy with respiratory distress type 1
Lethal polymalformative syndrome, Boissel type
Human T-lymphotropic virus 1 infectious disease
X-linked diffuse leiomyomatosis - Alport syndrome
arrhythmogenic right ventricular dysplasia 5
Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
X-linked intellectual disability, Brooks type
Monocytoid Cells to Leukocytes Ratio Measurement
facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Autosomal dominant proximal renal tubular acidosis
Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
response to norepinephrine-dopamine reuptake inhibitor
IgD-negative CD38-positive IgG memory B cell
Abnormality on pulmonary function testing
Hyperinsulinism due to glucokinase deficiency
Hereditary sensory and autonomic neuropathy type 1
interleukin 1 receptor-like 1 measurement
MYH7-related late-onset scapuloperoneal muscular dystrophy
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Congenital dyserythropoietic anemia type IV
banks of the superior temporal sulcus volume measurement
DNA selection through 5-methylcytidine antibody
Renal dysplasia - megalocystis - sirenomelia
Paranasal Sinus Adenoid Cystic Carcinoma
Gastric Small Cell Neuroendocrine Carcinoma
deafness, congenital heart defects, and posterior embryotoxon
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
whole plant fruit formation stage 30 to 50%
Splenogonadal fusion - limb defects - micrognathia
Rare genetic palpebral, lacrimal system and conjunctival disease
Tay-Sachs disease, B variant, adult form
Partial deletion of the long arm of chromosome 21
Bacillus subtilis subsp. subtilis str. 168
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Prader-Willi syndrome due to paternal 15q11q13 deletion
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
adult acute respiratory distress syndrome
Spectrin-associated autosomal recessive cerebellar ataxia
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
X-linked intellectual disability, Sutherland-Haan type
Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Autosomal codominant severe lipodystrophic laminopathy
leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
Glycogen storage disease due to acid maltase deficiency
Syndrome with synostosis or other joint formation defect
non-alcoholic fatty liver disease severity measurement
Capillary malformation - arteriovenous malformation
delayed encephalopathy after acute carbon monoxide poisoning
Syndromic renal or urinary tract malformation
mature CD11c-low plasmacytoid dendritic cell
Decreased activity of mitochondrial complex I
polyarticular juvenile idiopathic arthritis, rheumatoid factor negative
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Rare genetic intellectual disability with developmental anomaly
Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
CD94-negative natural killer cell, mouse
response to intravenous immunoglobulin therapy
Autosomal recessive spastic paraplegia type 46
spinal muscular atrophy with congenital bone fractures 1
Distal hereditary motor neuropathy type 2
Late-onset localized junctional epidermolysis bullosa - intellectual disability
ileal neuroendocrine tumor, well differentiated, low or intermediate grade
Congenital primary megaureter, nonrefluxing and unobstructed form
EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood
Alagille syndrome due to 20p12 microdeletion
Salmonella enterica subsp. enterica serovar Typhimurium str. LT2
rare genetic odontal or periodontal disorder
46,XX disorder of sex development - anorectal anomalies
Microcephaly - seizures - developmental delay
intellectual developmental disorder, autosomal dominant 63, with macrocephaly
Genetic 46,XY disorder of sex development of endocrine origin
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
Extrahepatic Bile Duct Adenosquamous Carcinoma
Syndrome or malformation associated with head and neck malformations
Mucopolysaccharidosis type 6, rapidly progressing
Qualitative or quantitative defects of protein O-mannosyltransferase 2
Carnitine palmitoyl transferase 1A deficiency
Hemoglobin E to Total Hemoglobin Ratio Measurement
fractional excretion of magnesium measurement
Gaucher disease - ophthalmoplegia - cardiovascular calcification
Maternal uniparental disomy of chromosome 13
Mitochondrial disease with dilated cardiomyopathy
Mesomelic dwarfism - cleft palate - camptodactyly
Hereditary thrombophilia due to congenital protein S deficiency
Myopathy with hexagonally cross-linked tubular arrays
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Elevated circulating glutaric acid concentration
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Paraplegia - brachydactyly - cone-shaped epiphysis
Short-limb skeletal dysplasia with severe combined immunodeficiency
Pierre Robin syndrome associated with miscellaneous anomalies
hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency
autosomal recessive severe congenital neutropenia
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Salmonella enterica subsp. enterica serovar Typhi
Autosomal ichthyosis syndrome with prominent neurologics signs
Neonatal intrahepatic cholestasis due to citrin deficiency
COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
neurodegeneration, childhood-onset, with cerebellar atrophy
autoinflammation with episodic fever and lymphadenopathy
melanoma, cutaneous malignant, susceptibility to, 3
Renal tubular dysgenesis of genetic origin
global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
low density lipoprotein triglyceride measurement
interleukin 1 Receptor accessory protein measurement
Qualitative or quantitative defects of myotilin
congenital fibrosis of the extraocular muscles
Familial infantile bilateral striatal necrosis
Genetic malformation syndrome with odontal and/or periodontal component
Hydrocephalus - blue sclerae - nephropathy
Aldosterone-producing adenoma with seizures and neurological abnormalities
Non-syndromic cerebral malformation due to abnormal neuronal migration
Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
Non-dystrophic myopathy with collagen 6 anomaly
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Craniofrontonasal dysplasia - Poland anomaly
tibia, hypoplasia or aplasia of, with polydactyly
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
loop of Henle ascending limb thin segment
Chondrodysplasia - disorder of sex development
Cortical dysplasia - focal epilepsy syndrome
Salmonella enterica subsp. enterica serovar Dublin
Hyperammonemia due to N-acetylglutamate synthetase deficiency
Constitutional hemolytic anemia due to acanthocytosis
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Qualitative or quantitative defects of protein glycosyltransferase-like
interleukin 1 receptor-like 2 measurement
Polydactyly of a biphalangeal thumb, bilateral
Sensorineural deafness with dilated cardiomyopathy
Autosomal dominant cerebellar ataxia type 3
syndromic respiratory or mediastinal malformation
granulomatous disease, chronic, autosomal recessive, 5
malignant epithelial tumor of salivary glands
hereditary clear cell renal cell carcinoma
Posterior fusion of lumbosacral vertebrae - blepharoptosis
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Autosomal dominant osteosclerosis, Worth type
CD34-positive, CD38-negative multipotent progenitor cell
Agnathia - holoprosencephaly - situs inversus
X-linked Charcot-Marie-Tooth disease type 1
Autosomal recessive spastic paraplegia type 20
Generalized epilepsy with febrile seizures-plus
susceptibility to infectious disease measurement
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Umbilical cord ulceration - intestinal atresia
Decreased activity of mitochondrial complex III
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Combined oxidative phosphorylation defect type 9
Abnormality of the cardiovascular system
Mitochondrial DNA depletion syndrome, hepatocerebral form
CD24-positive CD38-negative IgG-negative class switched memory B cell
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
Ly49H-negative natural killer cell, mouse
Autosomal dominant polycystic kidney disease
neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
spinal muscular atrophy with congenital bone fractures 2
X-linked dominant intellectual disability - epilepsy syndrome
Frontotemporal dementia with motor neuron disease
Metabolic disease with macular cherry-red spot
dual specificity mitogen-activated protein kinase kinase 4 measurement
global developmental delay with or without impaired intellectual development
neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade
Frontotemporal neurodegeneration with movement disorder
Glycogen storage disease due to glycogen debranching enzyme deficiency
Silver-Russell syndrome due to imprinting defect of 11p15
Acinar Prostate Adenocarcinoma, Foamy Gland Variant
infectious, fungal or parasitic myopathy
Spinal Cord Primitive Neuroectodermal Tumor
insulin secreting cell of pars intercerebralis
combined oxidative phosphorylation deficiency 36
Congenital absence of both forearm and hand, unilateral
Rare genetic disease with myoclonus as a major feature
Pyogenic bacterial infections due to MyD88 deficiency
Cleft palate - short stature - vertebral anomalies
obsolete_Daudi Burkitt's lymphoma cell line
Qualitative or quantitative defects of merosin
Benign adult familial myoclonic epilepsy
Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
Hemoglobin F to Total Hemoglobin Ratio Measurement
Genetic non-syndromic renal or urinary tract malformation
Neurodegeneration with brain iron accumulation
Atrial septal defect - atrioventricular conduction defects
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Progressive epilepsy - intellectual disability, Finnish type
Salmonella enterica subsp. enterica serovar Typhi str. CT18
activities of daily living score measurement
Susceptibility to viral and mycobacterial infections
amino acid or protein metabolism disease with epilepsy
Partial duplication of the short arm of chromosome 8
Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
inherited fatty acid metabolism disorder
Behavioral variant of frontotemporal dementia
marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections
renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
Autosomal recessive limb-girdle muscular dystrophy type 2S
Autosomal recessive hereditary sensory and autonomic neuropathy
Polydactyly of a triphalangeal thumb, bilateral
Paraplegia - intellectual disability - hyperkeratosis
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
global developmental delay, progressive ataxia, and elevated glutamine
Extrahepatic Bile Duct Squamous Cell Carcinoma
ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor
Infantile osteopetrosis with neuroaxonal dysplasia
stromal cell of lamina propria of large intestine
comparative genomic hybridization by array
spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
Autosomal recessive isolated optic atrophy
46,XY gonadal dysgenesis - motor and sensory neuropathy
Blepharoptosis - cleft palate - ectrodactyly - dental anomalies
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Gonadal dysgenesis of gynecological interest
Partial duplication of the short arm of chromosome 3
Familial hypocalciuric hypercalcemia type 3
neurodevelopmental disorder with hypotonia, seizures, and absent language
rhizomelic chondrodysplasia punctata type 5
B220-positive CD38-negative unswitched memory B cell
Generalized epilepsy - paroxysmal dyskinesia
Kit and Sca1-positive hematopoietic stem cell
Hereditary leiomyomatosis and renal cell cancer
high content analysis of cells by molecular content
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Midline interhemispheric variant of holoprosencephaly
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
Nephrogenic syndrome of inappropriate antidiuresis
Young adult-onset distal hereditary motor neuropathy
charcot-marie-tooth disease, axonal, type 2DD
intellectual disability, autosomal dominant 45
Disorder of bilirubin metabolism and excretion
Hypotonia with lactic acidemia and hyperammonemia
von Willebrand disease (hereditary or acquired)
Salmonella enterica subsp. enterica serovar Typhimurium
Autosomal dominant Emery-Dreifuss muscular dystrophy
Cobblestone lissencephaly without muscular or ocular involvement
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Metabolic disease with pigmentary retinitis
nucleoside diphosphate kinase A measurement
Spasticity - intellectual disability - X-linked epilepsy
obsolete invasive pneumococcal disease, recurrent isolated, 2
anomaly of puberty or/and menstrual cycle
negative regulation of gonadotropin secretion
lung combined type small cell adenocarcinoma
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Rare genetic developmental defect during embryogenesis
X-linked Charcot-Marie-Tooth disease type 2
Autism spectrum disorder due to AUTS2 deficiency
Combined immunodeficiency with skin granulomas
Kit-positive, integrin beta7-high basophil mast progenitor cell
neurodevelopmental disorder with microcephaly and dysmorphic facies
B220-positive CD38-positive naive B cell
Isolated focal cortical dysplasia type I
dual specificity mitogen-activated protein kinase kinase 2 measurement
Focal palmoplantar and gingival keratoderma
negative regulation of mitotic nuclear division
Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Benign paroxysmal tonic upgaze of childhood with ataxia
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Hereditary cerebral hemorrhage with amyloidosis
combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Maternal uniparental disomy of chromosome 4
Autosomal dominant cerebellar ataxia type 4
bronchial epithelial cell derived cell line
obsolete_Non hereditary congenital primary lymphedema
syndromic X-linked intellectual disability Lubs type
Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
CD24-negative CD38-negative IgG-negative class switched memory B cell
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Anti-hepatitis B virus core antigen IgG measurement
Sporadic infantile bilateral striatal necrosis
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
dynein light chain roadblock-type 1 measurement
Autosomal recessive spastic paraplegia type 21
left ventricular stroke volume measurement
Microtia - eye coloboma - imperforation of the nasolacrimal duct
Glycogen storage disease due to glycogen branching enzyme deficiency
rare non-malformative gynecologic or obstetric disease
hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
Arthrogryposis multiplex congenita - whistling face
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Digital anomalies - intellectual disability - short stature
X-linked intellectual disability - dysmorphism - cerebral atrophy
scavenger receptor class F member 1 measurement
embryonic stem cell derived neuronal stem cell
congenital heart defects, multiple types
Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
response to long-chain n-3 PUFA dietary supplementation
Morphological abnormality of the semicircular canal
Symptomatic form of hemophilia A in female carriers
rare surgically correctable form of primary aldosteronism
Progressive demyelinating neuropathy with bilateral striatal necrosis
non-high density lipoprotein cholesterol measurement
leukocyte immunoglobulin-like receptor subfamily B member 2 measurement
neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor
Ehlers-Danlos syndrome with periventricular heterotopia
Epilepsy - microcephaly - skeletal dysplasia
rostral anterior cingulate cortex volume measurement
Infundibulopelvic stenosis - multicystic kidney
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
developmental and epileptic encephalopathy, 41
Palpebral tumor with a vascular malformation
Familial progressive hyper- and hypopigmentation
Moderate multiminicore disease with hand involvement
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Niemann-Pick disease type C, late infantile neurologic onset
cellular nitrogen compound metabolic process
Autosomal recessive spastic paraplegia type 71
short physical performance battery score measurement
stromal cell of lamina propria of small intestine
epilepsy, early-onset, with or without developmental delay
inflammatory bowel disease, immunodeficiency, and encephalopathy
obsolete_caudal division of the internal carotid artery
uterine corpus atypical polypoid adenomyoma
Distal renal tubular acidosis with anemia
negative regulation of platelet aggregation
B220-low CD38-negative unswitched memory B cell
Kit-negative, Ly-76 high basophilic erythroblast
Autosomal dominant spastic ataxia type 1
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
high content analysis of cells by morphological and physical properties
Epidermolysis bullosa simplex, Ogna type
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Hereditary thrombophilia due to congenital protein C deficiency
Combined oxidative phosphorylation defect type 13
Follicular Variant Thyroid Gland Papillary Carcinoma
Atypical hemolytic-uremic syndrome with I factor anomaly
Encephalopathy due to sulfite oxidase deficiency
Congenital absence of thigh and lower leg with foot present
congenital disorder of glycosylation type I
CD8-alpha alpha positive, gamma-delta intraepithelial T cell
ATC Code A Alimentary tract and metabolism
erythrokeratodermia variabilis et progressiva 4
characterization of functional areas of human genome
Partial duplication of the short arm of chromosome X
thrombocytopenia, X-linked, with or without dyserythropoietic anemia
Congenital muscular dystrophy with cerebellar involvement
progressive encephalopathy with leukodystrophy due to DECR deficiency
Autosomal dominant progressive external ophthalmoplegia
congenital heart defects and skeletal malformations syndrome
secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
CD34-positive, CD38-positive common lymphoid progenitor
Autosomal recessive syndromic optic atrophy
pseudoxanthoma elasticum (inherited or acquired)
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Partial duplication of the long arm of chromosome 22
obsolete_mesenchyme derived from head neural crest
response to anti-vascular endothelial growth factor drug
Progressive supranuclear palsy - pure akinesia with gait freezing
Genetic neurodegenerative disease with dementia
Recurrent upper respiratory tract infections
Other syndrome with lissencephaly as a major feature
Streptomyces griseus subsp. griseus NBRC 13350
Autosomal recessive proximal renal tubular acidosis
obsolete_time to development of distant metastases
Gingival fibromatosis - facial dysmorphism
Thiamine-responsive maple syrup urine disease
Partial duplication of the long arm of chromosome 6
Disorder of mitochondrial fatty acid oxidation
X-linked Charcot-Marie-Tooth disease type 3
neuroendocrine cell hyperplasia of infancy
Congenital isolated thyroxine-binding globulin deficiency
Torticollis - keloids - cryptorchidism - renal dysplasia
Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
Microcephalic primordial dwarfism, Alazami type
Rare genetic disorder with obstructive azoospermia
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Maternal uniparental disomy of chromosome 6
Congenital myasthenic syndromes with glycosylation defect
Pierre Robin syndrome associated with collagen disease
Partial duplication of the long arm of chromosome 3
Polydactyly of a triphalangeal thumb, unilateral
caudal anterior cingulate cortex volume measurement
Bleeding diathesis due to glycoprotein VI deficiency
Familial thoracic aortic aneurysm and aortic dissection
ectonucleoside triphosphate diphosphohydrolase 5 measurement
Ovarian Sex Cord Tumor with Annular Tubules
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
negative regulation of renin secretion into blood stream
myopathy, centronuclear, 6, with fiber-type disproportion
Congenital absence of both forearm and hand, bilateral
obsolete_distal portion of right coronary artery
mitochondrial complex 1 deficiency, nuclear type 5
X-linked non-syndromic sensorineural deafness type DFN
low density lipoprotein particle size measurement
T-cell immunodeficiency with epidermodysplasia verruciformis
Secreted frizzled-related protein 3 measurement
Congenital absence of both lower leg and foot
B220-positive CD38-positive IgG-negative class switched memory B cell
Autosomal recessive early-onset inflammatory bowel disease
Isolated asymptomatic elevation of creatine phosphokinase
Postaxial polydactyly of toes, unilateral
DDX41-related hematologic malignancy predisposition syndrome
rare male infertility due to adrenal disorder
rare non surgically correctable form of primary aldosteronism
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
Developmental delay with variable intellectual impairment and behavioural abnormalities
rostral middle frontal gyrus volume measurement
hemorrhagic disorder due to a qualitative platelet defect
Rare strabismus and restriction syndrome
Progéria - short stature - pigmented nevi
protein glycosylation in endoplasmic reticulum
Mitochondrial oxidative phosphorylation disorder with no known mechanism
Qualitative or quantitative defects of myofibrillar proteins
Autosomal recessive spastic paraplegia type 39
infant cerebrospinal fluid volume measurement
hematopoietic and lymphoid system neoplasm
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
Partial deletion of the long arm of chromosome 18
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Benign infantile seizures associated to mild gastroenteritis
Francisella tularensis subsp. tularensis SCHU S4
Hemolytic anemia due to a disorder of glycolytic enzymes
Facial onset sensory and motor neuronopathy
Kit-negative, Ly-76 high polychromatophilic erythroblast
Hereditary cerebral hemorrhage with amyloidosis, Italian type
adenoid cystic carcinoma of the cervix uteri
macrophage migration inhibitory factor measurement
Benign partial epilepsy of infancy with complex partial seizures
Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
Congenital hereditary facial paralysis with variable hearing loss
Generalized junctional epidermolysis bullosa, non-Herlitz type
invasive breast ductal and lobular carcinoma
Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
Atypical hemolytic-uremic syndrome with anti-factor H antibodies
congenital disorder of glycosylation type II
congenital disorder of glycosylation with defective fucosylation
microcephaly, short stature, and limb abnormalities
Polydactyly of an index finger, unilateral
intellectual developmental disorder with macrocephaly, seizures, and speech delay
Autosomal recessive Emery-Dreifuss muscular dystrophy
Congenital cataract-hearing loss-severe developmental delay syndrome
Anemia due to adenosine triphosphatase deficiency
skeletal defects, genital hypoplasia, and mental retardation
Partial duplication of the long arm of chromosome 4
Combined immunodeficiency due to ZAP70 deficiency
Epstein Barr viral capsid antigen IgG measurement
Congenital disorder of glycosylation with epilepsy as a major feature
Autosomal dominant Charcot-Marie-Tooth disease type 2G
Progressive deafness with stapes fixation
neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
Autosomal recessive limb-girdle muscular dystrophy type 2G
vitamin K-dependent protein C measurement
mannan-binding lectin serine protease 1 measurement
pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5
susceptibility to plantar warts measurement
Double uterus - hemivagina - renal agenesis
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
complex vascular malformation with associated anomalies
Rare male infertility due to testicular endocrine disorder
Spondyloepiphyseal dysplasia tarda, Kohn type
Autosomal recessive limb-girdle muscular dystrophy type 2D
CD4-negative CD8-negative gamma-delta intraepithelial T cell
Autosomal dominant distal renal tubular acidosis
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Myasthenic syndrome with eye involvement
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Sterile multifocal osteomyelitis with periostitis and pustulosis
Rare constitutional hemolytic anemia due to an enzyme disorder
Constitutional mismatch repair deficiency syndrome
Rare hemorrhagic disorder due to a constitutional thrombocytopenia
liver and intrahepatic bile duct neoplasm
Qualitative or quantitative protein defects in neuromuscular diseases
Blepharophimosis-intellectual disability syndrome, Verloes type
Transgrediens et progrediens palmoplantar keratoderma
Leukoencephalopathy - dystonia - motor neuropathy
Isolated hereditary congenital facial paralysis
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Familial idiopathic dilatation of the right atrium
Chronic diarrhea due to glucoamylase deficiency
Familial isolated clinodactyly of fingers
Generalized dominant dystrophic epidermolysis bullosa
Atypical hemolytic-uremic syndrome with DGKE deficiency
Dysostosis of genetic origin with limb anomaly as a major feature
CD56-negative, CD161-positive immature natural killer cell, human
glial tumor of neuroepithelial tissue with unknown origin
Glycogen storage disease due to acid maltase deficiency, infantile onset
Congenital disorder of glycosylation with hepatic involvement
hyper-IgE recurrent infection syndrome 5, autosomal recessive
X-linked Charcot-Marie-Tooth disease type 4
obsolete_proximal portion of anterior interventricular branch of left coronary artery
Cervical Intraepithelial Neoplasia Grade 2/3
Autosomal recessive spastic paraplegia type 23
Glycogen storage disease due to liver glycogen phosphorylase deficiency
positive regulation of renin secretion into blood stream
Megalencephalic leukoencephalopathy with subcortical cysts
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
nucleic acid hybridization to array protocol
Aniridia - renal agenesis - psychomotor retardation
congenital anomaly of cardiovascular system
Osteosclerosis - ichthyosis - premature ovarian failure
ventricular system of central nervous system
Bleeding diathesis due to integrin alpha2-beta1 deficiency
prenatal-onset spinal muscular atrophy with congenital bone fractures
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Pyruvate dehydrogenase E3-binding protein deficiency
very low density lipoprotein particle size measurement
Multiple congenital anomalies - hypotonia - seizures syndrome
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
obsolete Abnormality of glycoprotein metabolism
B220-low CD38-positive IgG-negative class switched memory B cell
CD115-positive monocyte OR common dendritic progenitor
Immunodeficiency due to an early component of complement deficiency
Microcephalic primordial dwarfism, Toriello type
Transient infantile hypertriglyceridemia and hepatosteatosis
Autosomal dominant Charcot-Marie-Tooth disease type 2N
gastrointestinal ulceration, recurrent, with dysfunctional platelets
hypogonadotropic hypogonadism 5 with or without anosmia
Free sialic acid storage disease, infantile form
Rare genetic hypothalamic or pituitary disease
Hypotonia - failure to thrive - microcephaly
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Holoprosencephaly - radial heart renal anomalies
biological anomaly without phenotypic characterization
obsolete_apical ectodermal ridge pelvic fin bud
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
X-linked intellectual disability - epilepsy
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2L
Arthrogryposis with oculomotor limitation and electroretinal anomalies
autoinflammation with arthritis and dyskeratosis
Distal myopathy with anterior tibial onset
Sinoatrial node dysfunction and deafness
Junctional epidermolysis bullosa - pyloric atresia
superior frontal gyrus volume measurement
Lissencephaly with cerebellar hypoplasia type E
Congenital absence of both forearm and hand
macrophage scavenger receptor types I and II measurement
carbamoyl phosphate synthetase I deficiency disease
Congenital disorder of glycosylation with intestinal involvement
Rare disorder with hypergonadotropic hypogonadism
Autosomal recessive spastic paraplegia type 72
cholestasis, intrahepatic, of pregnancy 3
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Genetic immune deficiency with skin involvement
acquired chronic primary adrenal insufficiency
neurodevelopmental disorder with severe motor impairment and absent language
Autosomal dominant hereditary demyelinating motor and sensory neuropathy
Disorder of amino acid and other organic acid metabolism
46,XY ovotesticular disorder of sex development
behavior or behavioral disorder measurement
Linear and whorled nevoid hypermelanosis
Conductive deafness - ptosis - skeletal anomalies
seeing a general practitioner for nerves, anxiety, tension or depression, self-reported
Autosomal recessive limb-girdle muscular dystrophy type 2I
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
macrocephaly, dysmorphic facies, and psychomotor retardation
Non-syndromic developmental defect of the eye
Autosomal dominant neovascular inflammatory vitreoretinopathy
short stature and microcephaly with genital anomalies
Autoimmune lymphoproliferative syndrome with recurrent viral infections
Autosomal dominant spastic paraplegia type 6
acute and subacute inflammatory demyelinating polyneuropathy
Pure or complex hereditary spastic paraplegia
ATC Code B Blood and blood forming organs
syndromic X-linked intellectual disability Raymond type
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Woolly hair - hypotrichosis - everted lower lip - outstanding ears
Hyperlipidemia due to hepatic triglyceride lipase deficiency
Kit-positive, CD34-positive common myeloid progenitor
gallbladder neuroendocrine tumor, grade 1/2
Autosomal dominant Charcot-Marie-Tooth disease type 2I
WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 measurement
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
nasal cavity and paranasal sinus carcinoma
Genetic multiple congenital anomalies/dysmorphic syndrome
macula of utricle of membranous labyrinth
Microcephaly - intellectual disability - phalangeal and neurological anomalies
CD27-low, CD11b-low immature natural killer cell, mouse
Congenital hypothyroidism due to developmental anomaly
Short stature - webbed neck - heart disease
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Microcephalic primordial dwarfism, Dauber type
Primary hypergonadotropic hypogonadism - partial alopecia
Gingival fibromatosis - progressive deafness
Rare syndrome with cardiac malformations
Paternal uniparental disomy of chromosome 13
Ewing sarcoma/peripheral primitive neuroectodermal tumor
obsolete_proximal portion of circumflex branch of left coronary artery
Autosomal recessive spastic paraplegia type 24
ease of getting up in the morning, self-reported
Qualitative or quantitative defects of desmin
IgG bisecting N-acetyl glucosamine measurement
interleukin 27 receptor subunit alpha measurement
Aniridia - cerebellar ataxia - intellectual disability
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Maternal uniparental disomy of chromosome 9
Familial scaphocephaly syndrome, McGillivray type
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Mitochondrial DNA depletion syndrome, myopathic form
Spinal muscular atrophy with respiratory distress type 2
Qualitative or quantitative defects of emerin
Ophthalmoplegia - intellectual disability - lingua scrotalis
Mucopolysaccharidosis type 2, attenuated form
Microphthalmia with linear skin defects syndrome
Distal hereditary motor neuropathy, Jerash type
Cervical Large Cell Neuroendocrine Carcinoma
spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant
Hereditary cryohydrocytosis with normal stomatin
CD4-negative, CD8-negative type I NK T cell secreting interleukin-4
Osteomyelitis leading to amputation due to slow healing fractures
genetic non-acquired premature ovarian failure
Atrial tachyarrhythmia with short PR interval
proximal portion of right coronary artery
Congenital absence of both lower leg and foot, unilateral
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Benign paroxysmal torticollis of infancy
Disease with punctate palmoplantar keratoderma as a major feature
Constitutional neutropenia with extra-haematopoietic manifestations
inflammatory and autoimmune disease with epilepsy
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Glycogen storage disease due to lactate dehydrogenase deficiency
Hyperimmunoglobulinemia D with periodic fever
neurodevelopmental disorder with cerebellar atrophy and with or without seizures
X-linked recessive hereditary axonal motor and sensory neuropathy
46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
obsolete_embryonic inner optic lobe primordium
Symptomatic form of hemophilia B in female carriers
Pierre Robin syndrome associated with branchial archs anomalies
mucoepidermoid carcinoma of parotid gland
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
axonal hereditary motor and sensory neuropathy
Camptodactyly - tall stature - scoliosis - hearing loss
Arthrogryposis due to muscular dystrophy
Myoclonic epilepsy in non-progressive encephalopathies
pseudohypoparathyroidism without Albright hereditary osteodystrophy
Antenatal multiminicore disease with arthrogryposis multiplex congenita
Immunodeficiency predominantly affecting antibody production
Junctional epidermolysis bullosa, Herlitz type
X-linked intellectual disability - cardiomegaly - congestive heart failure
Lissencephaly with cerebellar hypoplasia type F
sessile serrated polyposis cancer syndrome
Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
negative regulation of heart contraction
Partial deletion of the long arm of chromosome 1
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
X-linked intellectual disability, Van Esch type
Polydactyly of an index finger, bilateral
Epiphyseal dysplasia - hearing loss - dysmorphism
Carnitine palmitoyl transferase II deficiency, neonatal form
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant limb-girdle muscular dystrophy type 1D
Kleefstra syndrome due to 9q34 microdeletion
Genetic central nervous system and retinal vascular disease
spotted single stranded DNA PCR amplicon reporter
Combined oxidative phosphorylation defect type 4
Mucopolysaccharidosis type 2, severe form
Mixed Epithelial Stromal Tumor of the Kidney
OCIA domain-containing protein 1 measurement
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Mendelian susceptibility to mycobacterial diseases
Erythropoietic uroporphyria associated with myeloid malignancy
seeing a psychiatrist for nerves, anxiety, tension or depression, self-reported
obsolete_embryonic Malpighian tubule tip cell
Autosomal dominant spastic paraplegia type 8
Male infertility with spermatogenesis disorder
Rare genetic systemic or rheumatologic disease
obsolete_hereditary breast and ovarian cancer
Swan neck-like deformities of the fingers
Intellectual disability - hypoplastic corpus callosum - preauricular tag
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism
CD34-positive, CD38-negative hematopoietic stem cell
Diarrhea-vomiting due to trehalase deficiency
Populus fremontii x Populus angustifolia
obsolete_apical ectodermal ridge pectoral fin bud
Autosomal dominant Charcot-Marie-Tooth disease type 2J
pneumonia caused by gram negative bacteria
HCS image acquistion and feature extraction protocol
Isolated focal cortical dysplasia type II
Short stature - deafness - neutrophil dysfunction - dysmorphism
positive regulation of gastric acid secretion
Autosomal dominant limb-girdle muscular dystrophy type 1F
Hypogonadism - mitral valve prolapse - intellectual disability
Nervous system anomaly with eye involvement
purine ribonucleoside monophosphate metabolic process
testicular non-seminomatous germ cell cancer
Short chain acyl-CoA dehydrogenase deficiency
Autosomal recessive spastic paraplegia type 35
Congenital muscular dystrophy without intellectual disability
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
STING-associated vasculopathy with onset in infancy
Spondyloperipheral dysplasia - short ulna
response to platelet aggregation inhibitor
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
Salmonella enterica subsp. enterica serovar Oranienburg
left superior temporal gyrus thickness measurement
Vitamin B12- and folate-independent constitutional megaloblastic anemia
Dx5-negative, NK1.1-positive immature natural killer cell, mouse
hereditary angioedema with C1Inh deficiency
Qualitative or quantitative defects of dystrophin
Hemangioma, Cavernous, Central Nervous System
obsolete_proximal portion of right coronary artery
Autosomal recessive spastic paraplegia type 25
Salmonella enterica subsp. enterica serovar Newport
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Postaxial polydactyly type A, unilateral
Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant
breast-ovarian cancer, familial, susceptibility to, 1
Hereditary hypercarotenemia and vitamin A deficiency
Cleft lip/palate - intestinal malrotation - cardiopathy
acoustic startle blink response measurement
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
White matter hypoplasia - corpus callosum agenesis - intellectual disability
Salmonella enterica subsp. enterica serovar Saintpaul
Localized junctional epidermolysis bullosa, non-Herlitz type
distal portion of circumflex branch of left coronary artery
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
demyelinating hereditary motor and sensory neuropathy
breast cancer anti-estrogen resistance protein 3 measurement
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Disorder of folate metabolism and transport
ATC Code J Antiinfectives for systemic use
Benign infantile focal epilepsy with midline spikes and wave during sleep
Disorder of metabolite absorption and transport
CD56-positive, CD161-positive immature natural killer cell, human
Congenital lipoid adrenal hyperplasia due to STAR deficency
Lymphedema - cerebral arteriovenous anomaly
Craniostenosis associated with a strabismus
Autosomal recessive spastic paraplegia type 62
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
obsolete_hindgut anlage in statu nascendi
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Severe achondroplasia - developmental delay - acanthosis nigricans
Autosomal dominant limb-girdle muscular dystrophy type 1E
Oculoauriculovertebral spectrum with radial defects
Mixed Lobular and Ductal Breast Carcinoma
Hereditary myopathy with lactic acidosis due to ISCU deficiency
obsolete_embryonic outer optic lobe primordium
positive regulation of heart contraction
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Campylobacter jejuni subsp. jejuni 81-176
Disorder of lysine and hydroxylysine metabolism
bronchiectasis with or without elevated sweat chloride 1
acquired dermis elastic tissue disorder with decreased elastic tissue
Lactobacillus delbrueckii subsp. bulgaricus ATCC BAA-365
hypogonadotropic hypogonadism 2 with or without anosmia
Charcot-Marie-Tooth disease, dominant intermediate G
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
obsolete_apical ectodermal ridge dorsal fin
Autosomal dominant Charcot-Marie-Tooth disease type 2K
circadian sleep/wake cycle, non-REM sleep
pulmonary atresia with ventricular septal defect
basal cell adhesion molecule measurement
susceptibility to scarlet fever measurement
X-linked non progressive cerebellar ataxia
Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma
Autosomal dominant limb-girdle muscular dystrophy
Pancreatic Large Cell Neuroendocrine Carcinoma
ability to walk or cycle unaided for 10 minutes, self-reported
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Syndromic developmental defect of the eye
endothelial cell of respiratory system lymphatic vessel
negative regulation of gastric acid secretion
Combined immunodeficiency due to CD3gamma deficiency
Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies
Congenital dyserythropoietic anemia type III
Spinocerebellar ataxia with oculomotor anomaly
Syndromic X-linked intellectual disability due to JARID1C mutation
Not NOTCH3-related small vessel disease of the brain
undifferentiated high grade pleomorphic sarcoma of bone
purine ribonucleoside monophosphate biosynthetic process
Very long chain acyl-CoA dehydrogenase deficiency
X-linked lissencephaly with abnormal genitalia
Autosomal dominant limb-girdle muscular dystrophy type 1G
Autosomal recessive limb-girdle muscular dystrophy type 2C
Primary bone dysplasia with defective bone mineralization
Fc-epsilon RIalpha-high basophil progenitor cell
Familial recurrent peripheral facial palsy
2p21 microdeletion syndrome without cystinuria
Bleeding diathesis due to thromboxane synthesis deficiency
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
Partial trisomy of the short arm of chromosome 9
Autosomal recessive cutis laxa type 2, classic type
autoimmune interstitial lung disease-arthritis syndrome
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
rosette-forming glioneuronal tumor of fourth ventricule
Glycogen storage disease due to liver phosphorylase kinase deficiency
Partial trisomy of the long arm of chromosome 16
Atrioventricular defect - blepharophimosis -radial defects
tissue factor pathway inhibitor measurement
monocyte early outgrowth colony forming unit
Shoulder and girdle defects - familial intellectual disability
Secretory apparatus of the lacrimal system anomaly
Reduced insulin like growth factor binding protein acid labile subunit level
Disorder of other vitamins and cofactors metabolism and transport
CD27-high, CD11b-high natural killer cell, mouse
Partial bilateral aplasia of the Müllerian ducts
collecting specimen from organ postmortem
Genetic 46,XY disorder of sex development
hemorrhagic disorder due to an acquired coagulation factor defect
Congenital absence of both lower leg and foot, bilateral
Partial duplication of the long arm of chromosome 13
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Autosomal recessive spastic paraplegia type 26
Abnormal morphology of female internal genitalia
Aniridia - ptosis - intellectual disability - familial obesity
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Familial intestinal malrotation - facial anomalies
Ulna hypoplasia - intellectual disability
Recessive intellectual disability - motor dysfunction - multiple joint contractures
Tall stature - scoliosis - macrodactyly of the great toes
Autosomal dominant medullary cystic kidney disease without hyperuricemia
transposition of the great arteries and conotruncal cardiac anomaly
Salmonella enterica subsp. enterica serovar Typhi str. Ty2
type II NK T cell secreting interferon-gamma
neuromuscular disease and ocular or auditory anomalies with or without seizures
Rare female infertility due to a congenital hypogonadotropic hypogonadism
Maternal uniparental disomy of chromosome X
combined immunodeficiency due to GINS1 deficiency
Abnormal autonomic nervous system physiology
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
Syndrome associated with hypertrophic cardiomyopathy
Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
Autosomal recessive polycystic kidney disease
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
Thyroid Gland Diffuse Large B-Cell Lymphoma
Fatal multiple mitochondrial dysfunction syndrome type 2
obsolete_visual anlage in statu nascendi
Epidermolysis bullosa simplex with muscular dystrophy
CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell
syndrome with corpus callosum agenesis /dysgenesis as a major feature
NLRP12-associated hereditary periodic fever syndrome
spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Hidrotic ectodermal dysplasia, Christianson-Fourie type
X-linked intellectual disability, Miles-Carpenter type
Intellectual disability - short stature - hypertelorism
obsolete_hypopharynx anlage in statu nascendi
Lymphedema - atrial septal defects - facial changes
Autosomal dominant progressive nephropathy with hypertension
Male infertility due to obstructive azoospermia of genetic origin
Congenital sucrase-isomaltase deficiency with minimal starch tolerance
Cleidocranial dysplasia and isolated cranial ossification defect
Idiopathic and/or familial pulmonary arterial hypertension
Metabolic disease involving other neurotransmitter deficiency
Salmonella enterica subsp. enterica serovar Muenster
X-linked complicated corpus callosum dysgenesis
Bile acid CoA ligase deficiency and defective amidation
Encephalopathy due to prosaposin deficiency
Campylobacter jejuni subsp. jejuni NCTC 11168
acquired dermis elastic tissue disorder with increased elastic tissue
Progressive supranuclear palsy - parkinsonism
Partial duplication of the short arm of chromosome 10
Autoinflammatory syndrome with immune deficiency
Partial deletion of the long arm of chromosome 4
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
peptidyl-prolyl cis-trans isomerase D measurement
Autosomal recessive spastic paraplegia type 68
Autosomal dominant Charcot-Marie-Tooth disease type 2L
fms related receptor tyrosine kinase-3 ligand measurement
obsolete_nucleus of the medial longitudinal fasciculus medulla oblongata
Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma
Multiple acyl-CoA dehydrogenation deficiency, mild type
Retinal degeneration - nanophthalmos - glaucoma
Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma
Chronic Eosinophilic Leukemia, Not Otherwise Specified
South Texas Assessment of Neurocognition
Hereditary hypophosphatemic rickets with hypercalciuria
Pigmentation disorder with eye involvement
achievement of target heart rate, self-reported
autosomal recessive nonsyndromic deafness 7
rare disease with myoclonus as a major feature
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Primary congenital hypothyroidism without thyroid developmental anomaly
mucoepidermoid carcinoma of submandibular gland
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Partial monosomy of the long arm of chromosome 9
Hypogonadotropic hypogonadism - retinitis pigmentosa
Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
454 GS 20 standard manufacturer's protocol
developmental and epileptic encephalopathy, 86
Hypohidrotic ectodermal dysplasia with immunodeficiency
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Autosomal dominant limb-girdle muscular dystrophy type 1A
autoimmune disease with skin involvement
Dwarfism - intellectual disability - eye abnormality
Lysosomal storage disease with skeletal involvement
Marfanoid habitus - intellectual disability, autosomal recessive
hematopoietic lineage restricted progenitor cell
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Glycogen storage disease due to acid maltase deficiency, juvenile onset
CD27-low, CD11b-high natural killer cell, mouse
Immunodeficiency due to ficolin3 deficiency
Francisella tularensis subsp. holarctica LVS
Autosomal recessive spastic paraplegia type 54
Disorder of carnitine cycle and carnitine transport
Distal hereditary motor neuropathy type 7
carotid artery wall cross sectional area measurement
Cryptosporidiosis - chronic cholangitis - liver disease
Autosomal dominant Charcot-Marie-Tooth disease type 2
Short stature - valvular heart disease - characteristic facies
complement factor H-related protein 5 measurement
Mucopolysaccharidosis type 6, slowly progressing
Plasmodium falciparum antigen IgG1 measurement
X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Bladder Small Cell Neuroendocrine Carcinoma
interleukin 5 receptor subunit alpha measurement
Overgrowth - macrocephaly - facial dysmorphism
obsolete_mesenchyme derived from head mesoderm
Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Fatal infantile lactic acidosis with methylmalonic aciduria
Cleft lip/palate - deafness - sacral lipoma
Glycogen storage disease due to muscle beta-enolase deficiency
X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism
Familial primary hypomagnesemia with normocalciuria and normocalcemia
Autosomal dominant distal hereditary motor neuropathy
Other immunodeficiency syndrome due to defects in adaptive immunity
Partial duplication of the short arm of chromosome 1
hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Epileptic encephalopathy with global cerebral demyelination
Radio-ulnar synostosis - intellectual disability - hypotonia
fibroblast growth factor basic measurement
Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp
type II NK T cell secreting interleukin-4
acquired angioedema with C1Inh deficiency
Alpha-thalassemia - X-linked intellectual disability syndrome
Congenital absence of the eyebrow/eyelashes
Dandy-Walker malformation - postaxial polydactyly
autosomal dominant intermediate Charcot-Marie-Tooth disease type G
Short stature due to partial GHR deficiency
Natal teeth - intestinal pseudoobstruction - patent ductus
mandibulofacial dysostosis with mental deficiency
Qualitative or quantitative defects of alpha-sarcoglycan
Bilateral microtia - deafness - cleft palate
Immunodeficiency due to MASP-2 deficiency
regulation of cardiac muscle cell action potential
Partial deletion of the long arm of chromosome 17
Male infertility due to large-headed multiflagellar polyploid spermatozoa
Rare disease with corpus callosum agenesis associated with peripheral neuropathy
mental retardation, autosomal recessive 64
Constitutional megaloblastic anemia with severe neurologic disease
Thyroid Gland Hyalinizing Trabecular Tumor
Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Pierre Robin syndrome associated with bone disease
Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell
obsolete_hereditary leiomyomatosis and renal cell cancer
c12orf65-related combined oxidative phosphorylation defect
nucleobase-containing small molecule metabolic process
Anaplastic Large Cell Lymphoma, ALK-Negative
Pure or complex autosomal dominant spastic paraplegia
Spondylometaphyseal dysplasia - cone-rod dystrophy
Autosomal recessive axonal neuropathy with neuromyotonia
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
genetic lethal multiple congenital anomalies/dysmorphic syndrome
Brachydactyly - nystagmus - cerebellar ataxia
Hidrotic ectodermal dysplasia, Halal type
Congenital chronic diarrhea with protein-losing enteropathy
ectodermal dysplasia and immunodeficiency 2
muscular dystrophy, limb-girdle, autosomal recessive 23
X-linked intellectual disability - craniofacioskeletal syndrome
obsolete_Malpighian tubule main body primordium
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Epilepsy and/or ataxia with myoclonus as major feature
COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
Autosomal recessive spastic paraplegia type 60
Severe early-onset axonal neuropathy due to NEFL deficiency
Partial deletion of the short arm of chromosome 10
Congenital pseudoarthrosis of the fibula
Deafness - encephaloneuropathy - obesity - valvulopathy
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Rhizomelic chondrodysplasia punctata type 2
Congenital bilateral absence of vas deferens
Severe intellectual disability and progressive spastic paraplegia
isolated congenital growth hormone deficiency
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Familial episodic pain syndrome with predominantly upper body involvement
Ly49D-positive natural killer cell, mouse
Genetic central nervous system malformation
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
autosomal recessive nonsyndromic deafness 63
peptidyl-prolyl cis-trans isomerase E measurement
Alopecia - epilepsy - pyorrhea - intellectual disability
Heliconius erato etylus x Heliconius himera
central nervous system melanocytic neoplasm
bringing up phlegm, sputum or mucus on most days, self-reported
Pyruvate carboxylase deficiency, severe neonatal type
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Hereditary sensory and autonomic neuropathy type 1B
neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements
benign neoplasm of peripheral nervous system
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
Autosomal dominant proximal spinal muscular atrophy
sorbitol dehydrogenase deficiency with peripheral neuropathy
Disorder of ornithine or proline metabolism
Incomplete partition of the cochlea type II
intellectual developmental disorder with poor growth and with or without seizures or ataxia
Long chain acyl-CoA dehydrogenase deficiency
primary germ cell tumor of central nervous system
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Coloboma of macula - brachydactyly type B
naive thymus-derived CD4-positive, alpha-beta T cell
Short rib-polydactyly syndrome, Majewski type
X-linked intellectual disability, Porteous type
death-associated protein kinase 2 measurement
Partial deletion of the short arm of chromosome 7
CD27-high, CD11b-low natural killer cell, mouse
carotid artery mean blood pressure measurement
Lissencephaly type 1 due to doublecortin gene mutation
Plasmodium falciparum antigen IgG3 measurement
X-linked intellectual disability - precocious puberty - obesity
Primary ciliary dyskinesia - retinitis pigmentosa
Mitochondrial disease with eye involvement
Drug- or toxin-induced pulmonary arterial hypertension
Autosomal recessive limb-girdle muscular dystrophy type 2A
immunodeficiency, developmental delay, and hypohomocysteinemia
Rare genetic gynecological and obstetrical diseases
neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
anterior endoderm anlage in statu nascendi
Combined oxidative phosphorylation defect type 11
Disorder of purine or pyrimidine metabolism
Autosomal dominant primary hypomagnesemia with hypocalciuria
combined oxidative phosphorylation deficiency 40
Developmental malformations - deafness - dystonia
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Severe congenital hypochromic anemia with ringed sideroblasts
CD4-positive, alpha-beta cytotoxic T cell
pancreatic carcinoma with mixed differentiation
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
Polymalformative genetic syndrome with increased risk of developing cancer
breasts and/or nipples, aplasia or hypoplasia of, 2
medial orbital frontal cortex volume measurement
Kit-low, CD34-positive eosinophil progenitor cell
cellular nitrogen compound biosynthetic process
Familial idiopathic steroid-resistant nephrotic syndrome
Malformation syndrome with skin/mucosae involvement
Testicular Non-Seminomatous Germ Cell Tumor
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
X-linked intellectual disability, Schimke type
Progressive pseudorheumatoid arthropathy of childhood
Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
autosomal recessive axonal hereditary motor and sensory neuropathy
dysostosis with limb anomaly as a major feature
structural brain anomalies with impaired intellectual development and craniosynostosis
Epidermolysis bullosa simplex with circinate migratory erythema
Severe generalized recessive dystrophic epidermolysis bullosa
Familial hyperthyroidism due to mutations in TSH receptor
Microcephaly - deafness - intellectual disability
congenital mitral valve insufficiency and/or stenosis
Low birth weight - dwarfism - dysgammaglobulinemia
Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant
Tetralogy of Fallot with absent pulmonary valve
periportal hepatic sinusoidal endothelial cell
Symptomatic form of Coffin-Lowry syndrome in female carriers
Multifocal pattern dystrophy simulating fundus flavimaculatus
primary melanoma of the central nervous system
intellectual developmental disorder, autosomal recessive 71
central nervous system cystic malformation
Pseudomonas syringae pv. tomato str. DC3000
persulfide dioxygenase ETHE1, mitochondrial measurement
Osteopetrosis with renal tubular acidosis
Hereditary motor and sensory neuropathy type 5
rare female infertility due to an adrenal disorder
Pineal Parenchymal Tumor of Intermediate Differentiation
sign or symptom concerning food and fluid intake
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Dysostosis with predominant craniofacial involvement
Disease with diffuse palmoplantar keratoderma as a major feature
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Disorder of pentose phosphate metabolism
Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone
internal carotid intimal medial thickness
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability
Triphalangeal thumb - polysyndactyly syndrome
Benign childhood occipital epilepsy, Panayiotopoulos type
chromosome 16p12.1 deletion syndrome, 520kb
inferior parietal cortex volume measurement
oculopharyngeal myopathy with leukoencephalopathy 1
immature CD1a-positive dermal dendritic cell
fetal liver hematopoietic progenitor cell
Familial partial lipodystrophy associated with PLIN1 mutations
cysts and fistulae of the face and oral cavity
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
activated CD4-positive, alpha-beta T cell
Dysostosis with combined reduction defects of upper and lower limbs
alimentary part of gastrointestinal system
factor V and factor VIII, combined deficiency of, type 1
Leukoencephalopathy with bilateral anterior temporal lobe cysts
Recessive hereditary methemoglobinemia type 1
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
autosomal recessive nonsyndromic deafness 9
endometrial endometrioid adenocarcinoma, variant with squamous differentiation
chromosome 17P13.3, telomeric, duplication syndrome
Shoulder and thorax deformity - congenital heart disease
Heart defect - round face - congenital developmental delay
Hemoglobin A1 to Total Hemoglobin Ratio Measurement
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Salmonella enterica subsp. enterica serovar Abortusovis
Congenital dyserythropoietic anemia type II
Okihiro syndrome due to a point mutation
carotid artery circumferential wall stress measurement
obsolete_number of children ever born measurement
Plasmodium falciparum antigen IgG measurement
poorly differentiated follicular thyroid carcinoma
Hypoparathyroidism - deafness - renal disease
46,XY disorder of sex development of gynecological interest
interleukin 6 receptor subunit beta measurement
Deaf blind hypopigmentation syndrome, Yemenite type
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
peste des petits ruminants infectious disease
Pulmonary arterial hypertension associated with another disease
Lower motor neuron syndrome with late-adult onset
rare non-malformative uterine adnexal disease
Autosomal recessive limb-girdle muscular dystrophy type 2B
obsolete_late infantile neuronal ceroid lipofuscinosis
Isolated follicle stimulating hormone deficiency
Hereditary inclusion body myopathy type 4
CD8alpha-positive thymic conventional dendritic cell
Malignant migrating partial seizures of infancy
Obesity due to pro-opiomelanocortin deficiency
X-linked myopathy with excessive autophagy
X-linked epilepsy - learning disabilities - behavior disorders
esophageal small cell neuroendocrine carcinoma
immature CD14-positive dermal dendritic cell
Disorder of mineral absorption and transport
platelet-derived growth factor receptor beta measurement
Parietal foramina with cleidocranial dysplasia
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
Resistance to thyrotropin-releasing hormone syndrome
Minimal pigment oculocutaneous albinism type 1
combined oxidative phosphorylation deficiency 41
Congenital lethal myopathy, Compton-North type
Hemoglobin A to Total Hemoglobin Ratio Measurement
Hypoinsulinemic hypoglycemia and body hemihypertrophy
X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
autosomal dominant nonsyndromic deafness 40
Combined pituitary hormone deficiencies, genetic forms
primary immunodeficiency with predisposition to severe viral infection
Postaxial polydactyly type B, unilateral
Digestive System Mixed Adenoneuroendocrine Carcinoma
middle temporal gyrus volume measurement
anti-herpes simplex virus 6 antibody measurement
Constitutional anemia due to iron metabolism disorder
Familial median cleft of the upper and lower lips
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
tumor necrosis factor receptor superfamily member 9 measurement
Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Autosomal recessive spastic paraplegia type 57
CD34-positive, CD38-positive eosinophil progenitor cell
Familial or sporadic hemiplegic migraine
severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
insulin-like growth factor-binding protein 7 measurement
Juvenile cataract - microcornea - renal glucosuria
Testicular Sclerosing Sertoli Cell Tumor
Obesity due to leptin receptor gene deficiency
Recessive hereditary methemoglobinemia type 2
CD4-negative, CD8-negative, alpha-beta intraepithelial T cell
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
retinitis pigmentosa and erythrocytic microcytosis
Late-onset distal myopathy, Markesbery-Griggs type
Junctional epidermolysis bullosa, non-Herlitz type
central venous hepatic sinusoidal endothelial cell
Immune dysregulation disease with immunodeficiency
Hereditary arterial and articular multiple calcification syndrome
hyperpigmentation with or without hypopigmentation, familial progressive
X-linked intellectual disability, Shashi type
phospholipase A2, membrane associated measurement
Genetic branchial arch or oral-acral syndrome
X-linked intellectual disability - psychosis - macroorchidism
neurodevelopmental disorder with language impairment and behavioral abnormalities
Hypothyroidism due to TSH receptor mutations
Hereditary sensory and autonomic neuropathy type 5
female infertility due to an anomaly of ovarian function