Metadata | |
---|---|
ID | DOID:0111351 |
Name | D-2-hydroxyglutaric aciduria 1 |
Definition | A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. https://www.ncbi.nlm.nih.gov/pubmed/15609246 |
Xrefs | |
Synonyms |
D2HGA1 [EXACT] |
Parent Relationships |