| Metadata | |
|---|---|
| ID | DOID:0060741 |
| Name | methylmalonic acidemia due to transcobalamin receptor defect |
| Definition | A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene. https://www.ncbi.nlm.nih.gov/pubmed/20524213 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
methylmalonic acidemia, TCblR type [EXACT] methylmalonic aciduria due to transcobalamin receptor defect [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |