Mondo Description A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is 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.
Disease Ontology Description An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:14749
GARD:0007033
ICD10:E71.120
NCIT:C98986
SCTID:42393006
UMLS:C0268583
UMLS:C1855119
MONDO:0002012
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.