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English
D-2-hydroxyglutaric aciduria
Human disease
D-2-Hydroxyglutaric Aciduria type 1
D-2-hydroxyglutaric acidemia
D2HGA1
D-2-HGA
D-2-HYDROXYGLUTARIC ACIDURIA 1
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
2-hydroxyglutaric aciduria
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0050575
genetic association
IDH2
2 references
stated in
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000182054/MONDO_0010924
based on heuristic
inferred from an Open Targets association score over 0.7
D2HGDH
2 references
stated in
Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000180902/MONDO_0010924
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0050575
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050575
http://identifiers.org/doid/DOID:0050575
1 reference
stated in
Identifiers.org
reference URL
http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233
http://www.orpha.net/ORDO/Orphanet_79315
0 references
Identifiers
MeSH descriptor ID
C535306
0 references
KEGG ID
H01225
0 references
Disease Ontology ID
DOID:0050575
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050575
GARD rare disease ID
5661
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050575
ICD-10-CM
E72.8
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0010924
Mondo ID
MONDO_0010924
0 references
OMIM ID
600721
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050575
613657
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050575
Orphanet ID
79315
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0010924
UMLS CUI
C1833429
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
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Wikiversity
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Wiktionary
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