| Metadata | |
|---|---|
| ID | DOID:0060742 |
| Name | methylmalonic acidemia cblA type |
| Definition | A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31. https://www.ncbi.nlm.nih.gov/pubmed/5686220, https://www.ncbi.nlm.nih.gov/pubmed/12438653 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
methylmalonic aciduria cblA type [EXACT] methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |