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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

OMIM:600721

Synonyms

D2HGA1 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a D-2-hydroxyglutaric aciduria

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