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| Term | Barth syndrome | ID (Ontology) | DOID:0050476 (Human Disease) |
| 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. | ||
| Also Known As | "3-methylglutaconicaciduria type 2" ; "3-methylglutaconicaciduria type II" ; "MGA Type 2" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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X-linked monogenic disease |__X-linked recessive disease___ organic acidemia | |__3-methylglutaconic aciduria__| Barth syndrome 14 rec. |
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| Is a |
3-methylglutaconic aciduria X-linked recessive disease |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:5890 ICD10CM:E78.71 MESH:D056889 MIM:302060 NCI:C84585 ORDO:111 SNOMEDCT_US_2023_03_01:297231002 UMLS_CUI:C0574083 |
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