Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Synechococcus phage S-PM2	NCBITaxon_238854
California encephalitis virus	NCBITaxon_35305
GM17754	CLO_0016558	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24]
formaldehyde	CHEBI_16842	[The simplest aldehyde., An aldehyde that has formula CH2O.]
GM17755	CLO_0016555	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24]
SEC61A1 deficiency	MONDO_0100337	[Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia.]
GM17756	CLO_0016554	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
Friedreich ataxia	MONDO_0100339	[An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty.]
calcium chloride	CHEBI_3312	[An inorganic chloride salt that has formula CaCl2.]
obsolete_glutathione synthetase deficiency with 5-oxoprolinuria	Orphanet_289846
Autoinflammatory syndrome with immune deficiency	Orphanet_290839
Primary immunodeficiency due to a defect in innate immunity	Orphanet_101988
propionylglycine	CHEBI_89836	[A N-acylglycine obtained by formal condensation of the carboxy group of propionic acid with the amino group of glycine.]
obsolete_disorder of glutamine metabolism	Orphanet_289841
GM17744	CLO_0016568	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17745	CLO_0016567	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
obsolete_glutathione synthetase deficiency without 5-oxoprolinuria	Orphanet_289849
GM17753	CLO_0016560	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24]
Renal cortical cysts	HP_0000803	[Cysts of the cortex of the kidney.]
antenatal Bartter syndrome	MONDO_0100343	[A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome.]