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

Go to external page 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 ]

Synonyms: 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

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:319569 (MONDO:equivalentTo)
  • MEDGEN:1379275 (MONDO:equivalentTo)
  • UMLS:C4511091 (MONDO:equivalentTo)
Subsets

ordo_disorder, rare, predisposition, nord_rare, orphanet_rare

exactMatch

http://linkedlifedata.com/resource/umls/id/C4511091

http://identifiers.org/medgen/1379275

http://www.orpha.net/ORDO/Orphanet_319569

excluded subClassOf

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

id

MONDO:0017901

term tracker item

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