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 )

Relationships
is a type of: 3-methylglutaconic aciduria X-linked recessive disease