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Metadata
ID DOID:0111619
Name combined D-2- and L-2-hydroxyglutaric aciduria
Definition A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A1 on chromosome 22q11.21.
https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria, https://www.ncbi.nlm.nih.gov/pubmed/10963100, https://www.ncbi.nlm.nih.gov/pubmed/23561848
Xrefs

OMIM:615182

ORDO:356978

SNOMEDCT_US_2019_09_01:713401006

UMLS_CUI:C4076194

Synonyms

combined D,L-2-hydroxyglutaric aciduria [EXACT]

combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia [EXACT]

combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria [EXACT]

D,L-2-HGA [EXACT]

D,L-2-hydroxyglutaric acidemia [EXACT]

D,L-2-hydroxyglutaric aciduria [EXACT]

Parent Relationships

is_a 2-hydroxyglutaric aciduria

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