Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
autosomal recessive titinopathy	MONDO_0100493	[Autosomal recessive form of TTN-related myopathy.]
TTN-related myopathy	MONDO_0100175	[A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes.]
obsolete_B-lymphocyte	EFO_0000097	[A lymphocyte of B lineage with the phenotype CD19-positive and surface immunoglobulin-positive., Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins.]
autosomal dominant titinopathy	MONDO_0100494	[Autosomal dominant form of TTN-related myopathy.]
BY4741	EFO_0000098
obsolete_BY4741	EFO_0000099
carbon dioxide	CHEBI_16526	[A carbon oxide that has formula CO2.]
trans-zeatin	CHEBI_16522	[A zeatin that has formula C10H13N5O.]
cytokinins	CHEBI_23530
D-serine	CHEBI_16523	[A serine that has formula C3H7NO3., The R-enantiomer of serine.]
Partial bilateral aplasia of the Müllerian ducts	Orphanet_180068
obsolete_juvenile amyotrophic lateral sclerosis	Orphanet_300605
obsolete_fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency	Orphanet_289527
obsolete_microtriplication 11q24.1	Orphanet_289522
CS57735	EFO_0000080	[CS57735 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158759&type=germplasm]
CS57737	EFO_0000081	[CS57737 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158761&type=germplasm]
CS57740	EFO_0000082	[CS57740 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158764&type=germplasm]
CS57742	EFO_0000083	[CS57742 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158766&type=germplasm]
CS57743	EFO_0000084	[CS57743 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158767&type=germplasm]
CS57750	EFO_0000085	[CS57750 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158774&type=germplasm]