Version: 8.0.0
Date: Tue Jan 28 2025
D-2-hydroxyglutaric aciduria 1
DOID:0111351
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • D2HGA1
Cross References
Parent Terms
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None
Sources of Associations

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