Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_genetic multiple congenital anomalies/dysmorphic syndrome	Orphanet_183533
spinocerebellar ataxia type 37	MONDO_0014410	[Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements.]
Localized epidermolytic hyperkeratosis	HP_0007559
kallikrein, decreased urinary activity of	MONDO_0014415
Abnormal subcutaneous fat tissue distribution	HP_0007552
idiopathic interstitial pneumonia	MONDO_0002429	[A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis).]
Salmonella enterica subsp. enterica serovar Typhisuis	NCBITaxon_41529
Lactobacillus amylovorus	NCBITaxon_1604
Lactobacillus alimentarius	NCBITaxon_1602
46,XY disorder of sex development due to cholesterol synthesis defect	Orphanet_325511
severe combined immunodeficiency due to DNA-PKcs deficiency	MONDO_0014423	[Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.]
glucocorticoid resistance	MONDO_0014421
autosomal recessive nonsyndromic hearing loss 102	MONDO_0014428	[Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.]
hearing loss, autosomal recessive	MONDO_0019588	[Autosomal recessive form of nonsyndromic deafness.]
short stature due to primary acid-labile subunit deficiency	MONDO_0014420	[Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.]
obsolete_interventricular septum aneurysm	Orphanet_99092
Rare genetic headache	Orphanet_183509
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	MONDO_0014419	[Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.]
Genetic central nervous system malformation	Orphanet_183506
myopathy, centronuclear, 5	MONDO_0014418	[Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.]