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autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

^ http://purl.obolibrary.org/obo/MONDO_0017902

A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). [ https://orcid.org/0000-0001-5208-3432 Orphanet:319574 ]

Term info

database cross reference
  • UMLS:CN203961 (MONDO:equivalentTo)
  • Orphanet:319574 (MONDO:equivalentTo)
Subsets

ordo_disease, predisposition

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4882

definition

A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).

exactMatch

http://purl.obolibrary.org/obo/Orphanet_319574, http://linkedlifedata.com/resource/umls/id/CN203961

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0013953

has exact synonym

autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency, autosomal recessive MSMD due to partial IFNgammaR2 deficiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2, IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency

id

MONDO:0017902