Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_autosomal recessive limb-girdle muscular dystrophy type 2D	Orphanet_62
obsolete_sterile multifocal osteomyelitis with periostitis and pustulosis	Orphanet_210115
obsolete_Alport syndrome	Orphanet_63
obsolete_Alström syndrome	Orphanet_64	[Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.]
obsolete_Leber congenital amaurosis	Orphanet_65	[Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life.]
Follicular Variant Thyroid Gland Papillary Carcinoma	EFO_1000261	[A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland.]
Gallbladder Adenocarcinoma	EFO_1000262	[A carcinoma that arises from glandular epithelial cells of the gall bladder.]
obsolete_symptomatic form of hemophilia A in female carriers	Orphanet_177926
benign neoplasm of parathyroid gland	MONDO_0021463	[A benign neoplasm that involves the parathyroid gland.]
Floor of Mouth Mucoepidermoid Carcinoma	EFO_1000260	[A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth.]
oral cavity mucoepidermoid carcinoma	MONDO_0044964	[A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination.]
carcinoma of floor of mouth	MONDO_0021343	[A carcinoma that involves the mouth floor.]
obsolete_symptomatic form of hemophilia B in female carriers	Orphanet_177929
adrenal medulla neoplasm	MONDO_0021237	[A neoplasm (disease) that involves the adrenal medulla.]
obsolete_proximal spinal muscular atrophy	Orphanet_70
Gastric Choriocarcinoma	EFO_1000269	[A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases.]
malignant gastric germ cell tumor	MONDO_0003112	[A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma.]
Gallbladder Squamous Cell Carcinoma	EFO_1000267	[A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells.]
stomach polyp	MONDO_0008277	[A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).]
holoprosencephaly-radial heart renal anomalies syndrome	MONDO_0008488	[Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.]