RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
3 methylglutaconicaciduria type 2; 3-Methylglutaconicaciduria Type II; 3-methylglutaconic aciduria type 2; 3-methylglutaconic aciduria type II; BTHS; MGA type 2; MGA type II; MGA2; MGCA2; X-linked cardioskeletal myopathy and neutropenia; cardioskeletal myopathy with neutropenia and abnormal mitochondria; cardioskeletal myopathy-neutropenia syndrome
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II