JSON

autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

^ http://purl.obolibrary.org/obo/MONDO_0017901

A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, 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:319569 ]

Term info

database cross reference
  • Orphanet:319569 (MONDO:equivalentTo)
  • UMLS:CN203960 (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-gammaR1, 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_319569, http://linkedlifedata.com/resource/umls/id/CN203960

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0008856

has exact synonym

IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency, autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency, autosomal recessive MSMD due to partial IFNgammaR1 deficiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1

id

MONDO:0017901