Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Diastema	HP_0000699	[Increased space between two adjacent teeth in the same dental arch.]
QG56	EFO_0002848
delta-beta-thalassemia	MONDO_0016489	[Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.]
metastatic malignant neoplasm in the colon	MONDO_0041447	[The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site.]
metastatic malignant neoplasm	MONDO_0024880	[A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site.]
Usher syndrome type 3	MONDO_0016485	[A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life.]
Usher syndrome	MONDO_0019501	[A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.]
beta-thalassemia major	MONDO_0016486	[Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.]
beta-thalassemia HBB/LCRB	MONDO_0013517	[Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.]
Agenesis of maxillary lateral incisor	HP_0000690	[Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.]
Tooth agenesis	HP_0009804	[The absence of one or more teeth from the normal series by a failure to develop]
beta-thalassemia intermedia	MONDO_0016487	[Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.]
silver-Russell syndrome due to 11p15 microduplication	MONDO_0016481
partial duplication of the short arm of chromosome 11	MONDO_0016948
silver-Russell syndrome due to maternal uniparental disomy of chromosome 11	MONDO_0016482
obsolete_isolated congenitally uncorrected transposition of the great arteries	Orphanet_216718
intracranial berry aneurysm	MONDO_0016483	[An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.]
brain aneurysm	EFO_0003870	[Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation., Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841), A congenital or acquired aneurysm within the cranium.]
Usher syndrome type 2	MONDO_0016484	[A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.]
silver-Russell syndrome due to an imprinting defect of 11p15	MONDO_0016480