Disease association ontology term - MONDO:0002012 - methylmalonic acidemia
Term summary
- ID
- MONDO:0002012
- Name
- methylmalonic acidemia
- Ontology or CV name
- Disease association
- Definition
- A genetically heterogenous inherited disorder characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.
