Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Lachancea kluyveri NRRL Y-12651	NCBITaxon_226302
xylose	CHEBI_18222	[An aldopentose, found in the embryos of most edible plants and used in medicine to test for malabsorption by administration in water to the patient.]
obsolete_partial deletion of the short arm of chromosome 2	Orphanet_261866
intestinal benign neoplasm	MONDO_0003062	[A benign neoplasm that involves the intestine.]
Blau syndrome	MONDO_0008523	[Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.]
tarsal-carpal coalition syndrome	MONDO_0008521	[Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.]
Chlorocebus sabaeus	NCBITaxon_60711
brachydactyly-elbow wrist dysplasia syndrome	MONDO_0008520	[Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.]
syndrome with synostosis or other joint formation defect	MONDO_0800095
Low-set, posteriorly rotated ears	HP_0000368	[Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).]
Low-set ears	HP_0000369	[Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.]
Taeniopygia guttata	NCBITaxon_59729
Abnormal earlobe morphology	HP_0000363	[An abnormality of the lobule of pinna.]
Tinnitus	HP_0000360	[Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.]
selenite(2-)	CHEBI_18212	[A selenium oxoanion that has formula O3Se.]
obsolete_partial deletion of the short arm of chromosome 1	Orphanet_261857
telecanthus	MONDO_0008537
canthal anomaly	MONDO_0020163
telangiectasia, hereditary hemorrhagic, type 1	MONDO_0008535
hereditary hemorrhagic telangiectasia	MONDO_0019180	[Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.]