Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q18553318)
Watch
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
In more languages
default for all languages
No label defined
No description defined
edit
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
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit