Metadata | |
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ID | DOID:0050716 |
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 |