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Summary Literature (0)
DOID:0050476 - Barth syndrome

Disease Ontology Definition:A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.

Synonyms: 3-methylglutaconicaciduria type 2, 3-methylglutaconicaciduria type II, MGA Type 2, MGA type II

Xenbase Genes : tafazzin

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010543 - Barth syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): 3-methylglutaconic aciduria (is_a), lipid metabolism disorder (is_a)