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

Go to external page 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). [ Orphanet:319574 https://orcid.org/0000-0001-5208-3432 ]

Synonyms: 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

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C4511098 (MONDO:equivalentTo)
  • MEDGEN:1387677 (MONDO:equivalentTo)
  • Orphanet:319574 (MONDO:equivalentTo)
Subsets

ordo_disorder, rare, predisposition, orphanet_rare

exactMatch

http://www.orpha.net/ORDO/Orphanet_319574

http://identifiers.org/medgen/1387677

http://linkedlifedata.com/resource/umls/id/C4511098

excluded subClassOf

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

id

MONDO:0017902

term tracker item

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