Term Name: | Barth syndrome |
---|---|
Synonyms: | 3-methylglutaconicaciduria type 2, 3-methylglutaconicaciduria type II, MGA Type 2, MGA type II |
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. |
Ontology: | Human Disease [DOID:0050476] ( DOID:0050476 ) |