Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
predominantly small-vessel vasculitis	MONDO_0015490
Webb-Dattani syndrome	MONDO_0014404
short stature due to GHSR deficiency	MONDO_0014403	[Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.]
Familial short QT syndrome	Orphanet_51083
obsolete_torsade-de-pointes syndrome with short coupling interval	Orphanet_51084
obsolete_Stickler syndrome type 2	Orphanet_90654
lung sarcoma	MONDO_0002426	[A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma.]
tic disorder	MONDO_0002420	[Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)]
Lactobacillus farciminis	NCBITaxon_1612
obsolete_otopalatodigital syndrome type 1	Orphanet_90650
obsolete_Stickler syndrome type 1	Orphanet_90653
rectosigmoid junction neoplasm	MONDO_0002423	[A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.]
sigmoid neoplasm	EFO_1001181	[Tumors or cancer of the sigmoid colon.]
obsolete_otopalatodigital syndrome type 2	Orphanet_90652
Lactobacillus fructivorans	NCBITaxon_1614
Lactobacillus fermentum	NCBITaxon_1613
Rhodopseudomonas palustris CGA009	NCBITaxon_258594
obsolete_Charcot-Marie-Tooth disease type 1E	Orphanet_90658
orofaciodigital syndrome type 14	MONDO_0014413	[Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.]
orofaciodigital syndrome	MONDO_0015375	[Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.]