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primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0012383

The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21. [ Orphanet:75391 ]

Synonyms: primary immunodeficiency due to MCM4 deficiency mini-chromosome maintenance 4 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C566492 (MONDO:equivalentTo)
  • SCTID:724275005 (MONDO:equivalentTo)
  • GARD:16695 (Orphanet:75391)
  • NCIT:C123729 (MONDO:equivalentTo)
  • Orphanet:75391 (OMIM:609981)
  • OMIM:609981 (Orphanet:75391/e)
  • DOID:0111967 (MONDO:equivalentTo)
  • UMLS:C1864947 (OMIM:609981)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0111967

http://linkedlifedata.com/resource/umls/id/C1864947

http://identifiers.org/snomedct/724275005

http://www.orpha.net/ORDO/Orphanet_75391

http://identifiers.org/mesh/C566492

http://purl.obolibrary.org/obo/NCIT_C123729

https://omim.org/entry/609981

has related synonym

immunodeficiency 54

NKGCD

IMD54

natural Killer cell deficiency, familial isolated

natural KILLER cell and glucocorticoid deficiency with DNA repair defect

id

MONDO:0012383

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0012383

Term relations