Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
methoprene	CHEBI_34839	[Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst., An isopropyl 11-methoxy-3,7,11-trimethyldodeca-2,4-dienoate that has formula C19H34O3.]
obsolete_opsismodysplasia	Orphanet_2746
obsolete pulmonary arteriovenous malformation	MONDO_0009930	[OBSOLETE. Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms.]
obsolete_Opitz G/BBB syndrome	Orphanet_2745	[Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).]
obsolete_horizontal gaze palsy with progressive scoliosis	Orphanet_2744
carnitine palmitoyl transferase II deficiency, severe infantile form	MONDO_0010914	[The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.]
X-12833 measurement	EFO_0021338	[Quantification of the amount of X-12833 in a sample.]
Ophthalmoplegia - intellectual disability - lingua scrotalis	Orphanet_2743
X-12830 measurement	EFO_0021337	[Quantification of the amount of X-12830 in a sample.]
polycystic kidney disease 3 with or without polycystic liver disease	MONDO_0010916	[Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene.]
obsolete_ophthalmomandibulomelic dysplasia	Orphanet_2741
X-12844 measurement	EFO_0021339	[Quantification of the amount of X-12844 in a sample.]
X-12786 measurement	EFO_0021334	[Quantification of the amount of X-12786 in a sample.]
Arterial occlusion	HP_0025324	[Blockage of blood flow through an artery.]
X-12776 measurement	EFO_0021333	[Quantification of the amount of X-12776 in a sample.]
X-12816 measurement	EFO_0021336	[Quantification of the amount of X-12816 in a sample.]
X-12798 measurement	EFO_0021335	[Quantification of the amount of X-12798 in a sample.]
X-12740 measurement	EFO_0021330	[Quantification of the amount of X-12740 in a sample.]
Antepartum hemorrhage	HP_0025328	[Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.]
anophthalmia plus syndrome	MONDO_0010930	[Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.]