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://www.ninds.nih.gov/disorders/barth/barth.htm |
Xrefs |
SNOMEDCT_US_2023_03_01:297231002 |
SKOS |
exactMatch MESH:D056889 |
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 | |
Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |