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(Q66680742)
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English
autosomal agammaglobulinemia
group of hereditary diseases in humans
agammaglobulinemia, non-Bruton type
agammaglobulinemia due to early proB cell defect
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Statements
instance of
class of disease
0 references
subclass of
isolated agammaglobulinemia
0 references
genetic association
PIK3R1
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000145675/MONDO_0011096
based on heuristic
inferred from an Open Targets association score over 0.7
Identifiers
MeSH descriptor ID
C538056
mapping relation type
exact match
0 references
Mondo ID
MONDO_0011096
0 references
Orphanet ID
33110
mapping relation type
exact match
0 references
UMLS CUI
C1832241
1 reference
based on heuristic
inferred by common MeSH mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
25 May 2023
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