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English
Hexokinase deficiency
medical condition
Nonspherocytic hemolytic anemia due to hexokinase deficiency
Hexokinase deficiency hemolytic anemia
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
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Statements
instance of
class of disease
0 references
subclass of
hemolytic anemia due to a disorder of glycolytic enzymes
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0009340
health specialty
hematology
0 references
genetic association
HK1
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000156515/MONDO_0009340
based on heuristic
inferred from an Open Targets association score over 0.7
exact match
http://www.orpha.net/ORDO/Orphanet_90031
0 references
Identifiers
MeSH descriptor ID
C562995
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0009340
GARD rare disease ID
3672
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0009340
ICD-10
D55.2
1 reference
imported from Wikimedia project
English Wikipedia
ICD-10-CM
D55.2
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0009340
ICD-9 ID
282.3
1 reference
imported from Wikimedia project
English Wikipedia
Microsoft Academic ID
2779994328
0 references
Mondo ID
MONDO_0009340
0 references
OMIM ID
235700
mapping relation type
exact match
2 references
imported from Wikimedia project
English Wikipedia
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0009340
Orphanet ID
90031
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0009340
UMLS CUI
C3150343
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0009340
C0472792
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0009340
C3502059
1 reference
based on heuristic
inferred by common MeSH mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
25 May 2023
C5681378
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
UniProt disease ID
DI-01739
0 references
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Wikipedia
(1 entry)
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enwiki
Hexokinase deficiency
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