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(Q55788542)
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English
inborn disorder of cobalamin metabolism and transport
human disease
Disorder of cobalamin metabolism and transport
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Statements
instance of
class of disease
0 references
subclass of
disorder of vitamin and non-protein cofactor absorption and transport
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019220
genetic association
MMADHC
1 reference
stated in
ClinGen
retrieved
23 May 2022
reference URL
https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40ec59af-a143-4424-9218-7fd75deb6a61-2021-05-12T182739.747Z
exact match
http://www.orpha.net/ORDO/Orphanet_79171
0 references
Identifiers
ICD-11 (foundation)
936546617
0 references
ICD-11 ID (MMS)
5C63.0
subject named as
Disorders of cobalamin metabolism or transport
0 references
Mondo ID
MONDO_0019220
0 references
Orphanet ID
79171
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019220
UMLS CUI
C5681844
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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