Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
glycerol kinase deficiency, adult form	MONDO_0017296	[Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.]
1-heptadecanoylglycerophosphocholine measurement	EFO_0021082	[Quantification of the amount of 1-heptadecanoylglycerophosphocholine in a sample.]
1-eicosatrienoylglycerophosphocholine measurement	EFO_0021081	[Quantification of the amount of 1-eicosatrienoylglycerophosphocholine in a sample.]
well-differentiated fetal adenocarcinoma of the lung	MONDO_0017292	[Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.]
glycerol kinase deficiency, infantile form	MONDO_0017294	[Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.]
intrahepatic cholestasis	MONDO_0019072	[A cholestasis characterized by impairment of the bile flow caused by obstruction located in the liver.]
obsolete_Cornelia de Lange syndrome	Orphanet_199	[).]
obsolete_occipital horn syndrome	Orphanet_198
obsolete_cat-eye syndrome	Orphanet_195
obsolete_Ocular coloboma	Orphanet_194
obsolete_Cohen syndrome	Orphanet_193	[Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.]
obsolete_Coffin-Lowry syndrome	Orphanet_192	[Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.]
1-arachidonoylglycerophosphoethanolamine measurement	EFO_0021077	[Quantification of the amount of 1-arachidonoylglycerophosphoethanolamine in a sample.]
1-arachidonoylglycerophosphocholine measurement	EFO_0021076	[Quantification of the amount of 1-arachidonoylglycerophosphocholine in a sample.]
1-docosahexaenoylglycerophosphocholine measurement	EFO_0021079	[Quantification of the amount of 1-docosahexaenoylglycerophosphocholine in a sample.]
Difficulty standing	HP_0003698
1-arachidonoylglycerophosphoinositol measurement	EFO_0021078	[Quantification of the amount of 1-arachidonoylglycerophosphoinositol in a sample.]
pentadecanoate 15:0 measurement	EFO_0021073	[Quantification of the amount of pentadecanoate 15:0 in a sample.]
palmitoleate 16:1n7 measurement	EFO_0021072	[Quantification of the amount of palmitoleate 16:1n7 in a sample.]
Fragile skin	HP_0001030	[Skin that splits easily with minimal injury.]