Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_congenital factor X deficiency	Orphanet_328
obsolete_congenital factor VII deficiency	Orphanet_327
obsolete_congenital factor V deficiency	Orphanet_326
Congenital factor II deficiency	Orphanet_325
obsolete_Fabry disease	Orphanet_324	[Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.]
obsolete_exstrophy-epispadias complex	Orphanet_322
Multiple osteochondromas	Orphanet_321	[Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.]
obsolete_apparent mineralocorticoid excess	Orphanet_320
bronchogenic carcinoma	EFO_1001942	[A lung carcinoma arising from the bronchial epithelium.]
bronchus cancer	MONDO_0001672	[A malignant neoplasm involving the bronchus]
bronchioloalveolar carcinoma	EFO_1001941	[A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion.]
childhood T lymphoblastic lymphoma	EFO_1001948	[A T lymphoblastic lymphoma that occurs during childhood.]
childhood T acute lymphoblastic leukemia	EFO_1001947	[An acute lymphoblastic leukemia of T-cell origin occurring in children.]
precursor B-cell acute lymphoblastic leukemia	MONDO_0020511	[The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)]
obsolete_Xp22.13p22.2 duplication syndrome	Orphanet_284180
childhood acute myeloid leukemia with maturation	EFO_1001945	[An acute myeloid leukemia with maturation occurring in children.]
childhood acute monocytic leukemia	EFO_1001944	[An acute monocytic leukemia occurring in children.]
childhood acute megakaryoblastic leukemia	EFO_1001943	[An acute megakaryoblastic leukemia occurring in children.]
obsolete_progressive cerebello-cerebral atrophy	Orphanet_247198
obsolete_Classic Bartter syndrome	Orphanet_93605	[Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.]