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hyper-IgM syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0003947

A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation. [ MONDO:cjm http://en.wikipedia.org/wiki/Hyper_IgM_syndrome ]

Synonyms: immunodeficiency with hyper-IgM

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0080544 (MONDO:equivalentTo)
  • MESH:D053306 (MONDO:equivalentTo)
  • NCIT:C84783 (MONDO:equivalentTo)
  • SCTID:82286005 (MONDO:equivalentTo)
  • UMLS:C0272236 (NCIT:C3990)
  • OMIMPS:308230 (MONDO:equivalentTo)
  • ICD9:279.05 (MONDO:i2s)
  • NCIT:C3990 (MONDO:equivalentTo)
Subsets

rare, inferred_rare

exactMatch

http://purl.obolibrary.org/obo/NCIT_C3990

http://identifiers.org/snomedct/82286005

https://omim.org/phenotypicSeries/PS308230

http://identifiers.org/mesh/D053306

http://purl.obolibrary.org/obo/DOID_0080544

http://linkedlifedata.com/resource/umls/id/C0272236

http://purl.obolibrary.org/obo/NCIT_C84783

has related synonym

hyperimmunoglobulin M syndrome

id

MONDO:0003947

Term relations