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susceptibility to respiratory infections associated with CD8alpha chain mutation

Go to external page http://purl.obolibrary.org/obo/MONDO_0012161

Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes. [ Orphanet:169085 ]

Synonyms: familial CD8 deficiency susceptibility to respiratory infections associated with CD8alpha chain mutation

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C1837065 (MONDO:equivalentTo)
  • MEDGEN:323058 (MONDO:equivalentTo)
  • NANDO:2200699 (https://orcid.org/0000-0003-0011-764X)
  • SCTID:766983005 (MONDO:equivalentTo)
  • Orphanet:169085 (OMIM:608957)
  • OMIM:608957 (Orphanet:169085/e)
  • MESH:C563824 (MONDO:equivalentTo)
  • NANDO:1200326 (https://orcid.org/0000-0003-0011-764X)
Subsets

ordo_disorder, rare, predisposition, nord_rare, orphanet_rare, clingen

ClinGen label
susceptibility to respiratory infections associated with CD8alpha chain mutation

exactMatch

https://omim.org/entry/608957

http://identifiers.org/mesh/C563824

http://www.orpha.net/ORDO/Orphanet_169085

http://linkedlifedata.com/resource/umls/id/C1837065

http://identifiers.org/snomedct/766983005

http://identifiers.org/medgen/323058

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018814

has related synonym

CD8 deficiency, familial

id

MONDO:0012161