| Metadata | |
|---|---|
| ID | DOID:0050716 |
| PURL | http://purl.obolibrary.org/obo/DOID_0050716 Copy |
| Name | methylmalonic aciduria and homocystinuria type cblD |
| Definition | A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. http://omim.org/entry/277410?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22, https://www.ncbi.nlm.nih.gov/pubmed/18385497 |
| Xrefs | |
| Synonyms |
Cobalamin D deficiency [EXACT] MAHCD [EXACT] |
| Parent Relationships |