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Disease Ontology Browser
Barth syndrome (DOID:0050476)
Alliance: disease page
Synonyms: 3-methylglutaconicaciduria type 2; 3-methylglutaconicaciduria type II; MGA Type 2; MGA type II
Alt IDs: OMIM:302060, ICD10CM:E78.71, MESH:D056889, NCI:C84585, ORDO:111, UMLS_CUI:C0574083
Definition: A 3-methylglutaconic aciduria that is characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid and that has_material_basis_in mutation in the tafazzin gene on chromosome Xq28.

Disease References using Mouse Models (9)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
09/08/2026
MGI 6.24 		The Jackson Laboratory