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d-2-hydroxyglutaric aciduria 2
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.
Uniprot Description A neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine.
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.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111352
OMIM:613657
UMLS:C3150909
MONDO:0013345
High level summary of knowledge for a disease, including descriptions and datasource references.