Barth Syndrome
Disease ID: disease_node_12346
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:5890, ICD10CM:E78.71, MESH:D056889, MIM:302060, NCI:C84585, ORDO:111, SNOMEDCT_US_2023_03_01:297231002, UMLS_CUI:C0574083 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060336 |
| Data Source | DOID, MESH |
| Synonyms | 3-methylglutaconicaciduria type 2, 3-methylglutaconicaciduria type II, MGA Type 2, MGA type II |
| Mesh Id | D056889 |
| Mesh Label | Barth Syndrome |
| Mesh Subclassof | D040181, D000015, D006330, D008052 |
| Doid Label | Barth syndrome |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_12346 |
| Doid Id | DOID_0050476 |
| Label | Barth Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)