Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form	MONDO_0017695
intraneural perineurioma	MONDO_0015032	[A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells.]
glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form	MONDO_0017696
glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	MONDO_0017697
glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form	MONDO_0017698
gastric emptying	GO_0035483	[The process in which the liquid and liquid-suspended solid contents of the stomach exit through the pylorus into the duodenum.]
lissencephaly with cerebellar hypoplasia type C	MONDO_0015036	[Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.]
erythrocyte galactose epimerase deficiency	MONDO_0017691
lissencephaly with cerebellar hypoplasia type B	MONDO_0015035	[Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.]
generalized galactose epimerase deficiency	MONDO_0017692
lissencephaly with cerebellar hypoplasia type A	MONDO_0015034	[Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia.]
glycogen storage disease due to acid maltase deficiency, infantile onset	MONDO_0017694	[Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.]
ABeta amyloidosis, dutch type	MONDO_0015033	[Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.]
inosine	CHEBI_17596	[A purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond.]
Skraban-Deardorff syndrome	MONDO_0054636
biliary tract cancer	MONDO_0003060	[A malignant neoplasm involving the biliary tree]
positive regulation of gastric acid secretion	GO_0060454	[Any process that increases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion.]
regulation of gastric acid secretion	GO_0060453	[Any process that modulates the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion.]
negative regulation of gastric acid secretion	GO_0060455	[Any process that decreases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion.]
amelogenesis imperfecta type 2	MONDO_0015048