(Q29982079)

English

D,L-2-hydroxyglutaric aciduria

human disease

combined D-2- and L-2-hydroxyglutaric aciduria
D2L2AD
DL-2HGA

In more languages

Statements

0 references

class of disease

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2-hydroxyglutaric aciduria

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

autosomal recessive disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

mode of inheritance

autosomal dominant

1 reference

Genetics Home Reference

14 October 2019

https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria

genetic association

1 reference

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

http://purl.obolibrary.org/obo/DOID_0111619

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0111619

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

Identifiers

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

0 references

0 references

0 references

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

UniProt disease ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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