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Echinobase
Summary Literature (0)
DOID:0050476 - Barth syndrome

Disease Ontology Definition:A lipid metabolism disorder 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,

Echinobase Genes : taz


OMIM:
MIM:302060 - barth syndrome; bths

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

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