Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_COFS syndrome	Orphanet_1466	[Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.]
26s proteasome non-atpase regulatory subunit 7 measurement	EFO_0020112	[The determination of the amount of 26s proteasome non-atpase regulatory subunit 7 in a sample]
3-hydroxy-3-methylglutaryl-coenzymeAreductase measurement	EFO_0020113	[The determination of the amount of 3-hydroxy-3-methylglutaryl-coenzymeAreductase in a sample]
3-hydroxyacyl-coa dehydrogenase type-2 measurement	EFO_0020114	[The determination of the amount of 3-hydroxyacyl-coa dehydrogenase type-2 in a sample]
Ovarian cyst	HP_0000138	[The presence of one or more cysts of the ovary.]
Abnormal morphology of female internal genitalia	HP_0000008	[An abnormality of the female internal genitalia.]
3-hydroxyisobutyrate dehydrogenase, mitochondrial measurement	EFO_0020115	[The determination of the amount of 3-hydroxyisobutyrate dehydrogenase, mitochondrial in a sample]
Hypertelorism, Teebi type	Orphanet_1519
Rare genetic bone development disorder	Orphanet_404584
Uterine leiomyoma	HP_0000131	[The presence of a leiomyoma of the uterus.]
Abnormality of the uterus	HP_0000130	[An abnormality of the uterus.]
Abnormal pattern of respiration	HP_0002793	[An anomaly of the rhythm or depth of breathing.]
Menorrhagia	HP_0000132	[Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.]
Hypertrichotic osteochondrodysplasia, Cantu type	Orphanet_1517	[Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.]
14-3-3 protein sigma measurement	EFO_0020110	[The determination of the amount of 14-3-3 protein sigma in a sample]
15-hydroxyprostaglandin dehydrogenase [NAD(+)] measurement	EFO_0020111	[The determination of the amount of 15-hydroxyprostaglandin dehydrogenase [NAD(+)] in a sample]
obsolete_Alagille syndrome due to 20p12 microdeletion	Orphanet_261600
Eucalyptus grandis x Eucalyptus urophylla	NCBITaxon_192399
Hypoventilation	HP_0002791	[A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).]
obsolete_qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase	Orphanet_209024