WormBase Tree Display for DO_term: DOID:0050476
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| DOID:0050476 | Name | Barth syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | 3-methylglutaconicaciduria type 2 | |||
| 3-methylglutaconicaciduria type II | |||||
| MGA Type 2 | |||||
| MGA type II | |||||
| Parent | Is_a | DOID:0060336 | |||
| DOID:0080012 | |||||
| DB_info | Database | OMIM | disease | 302060 | |
| Attribute_of | Gene_by_orthology | WBGene00006491 |
