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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
Echinobase Genes
:
taz
| MIM:302060 - barth syndrome; bths |
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),
X-linked recessive disease (is_a)