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(Q55785655)
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English
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
human disease
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No label defined
No description defined
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Statements
instance of
class of disease
0 references
subclass of
DNA repair-deficiency disorder
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0015707
syndrome with combined immunodeficiency
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0015707
exact match
http://www.orpha.net/ORDO/Orphanet_169346
0 references
Identifiers
ICD-11 ID (Foundation)
1362501774
0 references
ICD-11 ID (MMS)
4A01.31
subject named as
DNA repair defects other than combined T-cell or B-cell immunodeficiencies
0 references
Mondo ID
MONDO_0015707
0 references
Orphanet ID
169346
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0015707
UMLS CUI
C5680459
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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