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(Q56013841)
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English
glycogen storage disease due to lactate dehydrogenase deficiency
human disease
GSD due to lactate dehydrogenase deficiency
LDH deficiency
Glycogenosis due to lactate dehydrogenase deficiency
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Statements
instance of
class of disease
0 references
subclass of
glycogen storage disease
0 references
exact match
http://www.orpha.net/ORDO/Orphanet_2364
0 references
Identifiers
GARD rare disease ID
3159
0 references
ICD-10-CM
E74.4
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0016527
ICD-11 (foundation)
1391506239
0 references
ICD-11 ID (MMS)
5C53.01
subject named as
Lactate dehydrogenase deficiency
0 references
Mondo ID
MONDO_0016527
0 references
Orphanet ID
2364
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0016527
UMLS CUI
C5575057
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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