| Metadata | |
|---|---|
| ID | DOID:0050476 |
| Name | Barth syndrome |
| 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. http://en.wikipedia.org/wiki/Barth_syndrome, http://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1, http://www.ninds.nih.gov/disorders/barth/barth.htm, http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract |
| Xrefs |
SNOMEDCT_US_2023_03_01:297231002 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
3-methylglutaconicaciduria type 2 [EXACT] 3-methylglutaconicaciduria type II [EXACT] MGA Type 2 [EXACT] MGA type II [EXACT] |
| Parent Relationships |