ZFIN Human Disease: combined D-2- and L-2-hydroxyglutaric aciduria

OBO ID: DOID:0111619

Term Name:	combined D-2- and L-2-hydroxyglutaric aciduria		Search Ontology:
Synonyms:	combined D,L-2-hydroxyglutaric aciduria combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria D,L-2-HGA D,L-2-hydroxyglutaric acidemia D,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 the SLC25A1 gene on chromosome 22q11.21. (3)
References:	OMIM:615182 ORDO:356978 SNOMEDCT_US_2023_03_01:713401006 UMLS_CUI:C5574940
Ontology:	Human Disease ( DOID:0111619 )

Relationships

is a type of:	2-hydroxyglutaric aciduria autosomal recessive disease 2-hydroxyglutaric aciduria autosomal recessive disease Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC25A1	slc25a1b slc25a1a	Combined D-2- and L-2-hydroxyglutaric aciduria	615182

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None