Search Ontology:
Human Disease

Barth syndrome

Term ID
DOID:0050476
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
  • GARD:5890
  • ICD10CM:E78.71
  • MESH:D056889
  • MIM:302060
  • NCI:C84585
  • SNOMEDCT_US_2023_03_01:297231002
  • UMLS_CUI:C0574083
Ontology
Human Disease   ( DOID:0050476 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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