Term Name: | methylmalonic aciduria and homocystinuria type cblD |
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Synonyms: | Cobalamin D deficiency, MAHCD |
Definition: | A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. |
Ontology: | Human Disease [DOID:0050716] ( DOID:0050716 ) |