OBO ID: DOID:0050476
Term Name: Barth syndrome Search Ontology:
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. (4)
References:
Ontology: Human Disease   ( DOID:0050476 )
Relationships
is a type of:
OTHER Barth syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TAZ Barth syndrome 302060
PHENOTYPE No data available

CITATIONS (1)
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