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English
disorder of protein N-glycosylation
disease that has its basis in the disruption of protein N-linked glycosylation
disorder of protein N-linked glycosylation
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Statements
instance of
class of disease
0 references
subclass of
congenital disorder of glycosylation
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017740
exact match
http://www.orpha.net/ORDO/Orphanet_309347
0 references
Identifiers
ICD-10-CM
E77.8
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017740
ICD-11 (foundation)
292641586
0 references
ICD-11 ID (MMS)
5C54.0
subject named as
Disorders of protein N-glycosylation
0 references
Mondo ID
MONDO_0017740
0 references
Orphanet ID
309347
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017740
UMLS CUI
C5681044
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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