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hyper-IgM syndrome

Disease Summary
Associated Targets (5)
Tbio

4

Tchem

1


Mondo Description A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.
Mondo Term and Equivalent IDs
MONDO:0003947:  hyper-IgM syndrome
COHD:432287: 
DC:0000222: 
DOID:0080544: 
ICD9:279.05: 
MESH:D053306: 
NCIT:C3990: 
OMIMPS:308230: 
SCTID:82286005: 
UMLS:C0272236: 
Wikidata:Q1617658: