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combined immunodeficiency due to ZAP70 deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0010023

Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. [ Orphanet:911 ]

Synonyms: zeta-associated-protein 70 deficiency combined immunodeficiency due to ZAP70 deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0111943 (MONDO:equivalentTo)
  • Orphanet:911 (OMIM:269840)
  • MESH:C536722 (MONDO:equivalentTo)
  • SCTID:716378008 (MONDO:equivalentTo)
  • GARD:387 (Orphanet:911)
  • OMIM:269840 (Orphanet:911/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

https://omim.org/entry/269840

http://identifiers.org/mesh/C536722

http://www.orpha.net/ORDO/Orphanet_911

http://identifiers.org/snomedct/716378008

http://purl.obolibrary.org/obo/DOID_0111943

excluded subClassOf

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

has related synonym

STCD

immunodeficiency 48

severe combined immunodeficiency due to ZAP70 deficiency

selective T-cell defect

ZAP-70 deficiency

IMD48

id

MONDO:0010023

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010023

Term relations