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- MONDO_0017902 IAO_0000115 "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)." @default.
- MONDO_0017902 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/4882" @default.
- MONDO_0017902 RO_0000053 BFO_0000001 @default.
- MONDO_0017902 RO_0000053 BFO_0000002 @default.
- MONDO_0017902 RO_0000053 BFO_0000020 @default.
- MONDO_0017902 RO_0000053 COB_0000502 @default.
- MONDO_0017902 RO_0000053 MONDO_0021125 @default.
- MONDO_0017902 RO_0000053 MONDO_0021149 @default.
- MONDO_0017902 RO_0000053 MONDO_0021152 @default.
- MONDO_0017902 RO_0000053 PATO_0000001 @default.
- MONDO_0017902 RO_0002410 5440 @default.
- MONDO_0017902 RO_0004000 5440 @default.
- MONDO_0017902 RO_0004003 5440 @default.
- MONDO_0017902 excluded_subClassOf MONDO_0013953 @default.
- MONDO_0017902 predisposes_towards BFO_0000001 @default.
- MONDO_0017902 predisposes_towards BFO_0000002 @default.
- MONDO_0017902 predisposes_towards BFO_0000016 @default.
- MONDO_0017902 predisposes_towards BFO_0000017 @default.
- MONDO_0017902 predisposes_towards BFO_0000020 @default.
- MONDO_0017902 predisposes_towards COB_0000033 @default.
- MONDO_0017902 predisposes_towards COB_0000111 @default.
- MONDO_0017902 predisposes_towards COB_0000502 @default.
- MONDO_0017902 predisposes_towards MONDO_0000001 @default.
- MONDO_0017902 predisposes_towards MONDO_0005113 @default.
- MONDO_0017902 predisposes_towards MONDO_0005550 @default.
- MONDO_0017902 predisposes_towards MONDO_0020590 @default.
- MONDO_0017902 predisposes_towards MONDO_0700096 @default.
- MONDO_0017902 predisposes_towards OGMS_0000031 @default.
- MONDO_0017902 predisposes_towards PATO_0000001 @default.
- MONDO_0017902 normalizedInformationContent "100" @default.
- MONDO_0017902 referenceCount "1" @default.
- MONDO_0017902 hasDbXref "GARD:17460" @default.
- MONDO_0017902 hasDbXref "Orphanet:319574" @default.
- MONDO_0017902 hasDbXref "UMLS:CN203961" @default.
- MONDO_0017902 hasExactSynonym "IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" @default.
- MONDO_0017902 hasExactSynonym "autosomal recessive MSMD due to partial IFNgammaR2 deficiency" @default.
- MONDO_0017902 hasExactSynonym "autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency" @default.
- MONDO_0017902 hasExactSynonym "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2" @default.
- MONDO_0017902 hasExactSynonym "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency" @default.
- MONDO_0017902 id "MONDO:0017902" @default.
- MONDO_0017902 inSubset gard_rare @default.
- MONDO_0017902 inSubset ordo_disease @default.
- MONDO_0017902 inSubset orphanet_rare @default.
- MONDO_0017902 inSubset predisposition @default.
- MONDO_0017902 inSubset rare @default.
- MONDO_0017902 type Class @default.
- MONDO_0017902 isDefinedBy mondo.owl @default.
- MONDO_0017902 label "autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" @default.
- MONDO_0017902 subClassOf B95a7e2740b5900fa5b30a38abd81d58f @default.
- MONDO_0017902 subClassOf Ba00f390eebd04488a3af383248760cc8 @default.
- MONDO_0017902 subClassOf Bb10ceff2ec80a5ac261dd41ae90e096f @default.
- MONDO_0017902 subClassOf Bfebcef241cc4d33e8e2a04d429fb789c @default.
- MONDO_0017902 subClassOf BFO_0000001 @default.
- MONDO_0017902 subClassOf BFO_0000002 @default.
- MONDO_0017902 subClassOf BFO_0000016 @default.
- MONDO_0017902 subClassOf BFO_0000017 @default.
- MONDO_0017902 subClassOf BFO_0000020 @default.
- MONDO_0017902 subClassOf COB_0000033 @default.
- MONDO_0017902 subClassOf COB_0000111 @default.
- MONDO_0017902 subClassOf COB_0000502 @default.
- MONDO_0017902 subClassOf MONDO_0015979 @default.
- MONDO_0017902 subClassOf MONDO_0017902 @default.
- MONDO_0017902 subClassOf MONDO_0020573 @default.
- MONDO_0017902 subClassOf MONDO_0042489 @default.
- MONDO_0017902 subClassOf PATO_0000001 @default.
- MONDO_0017902 exactMatch CN203961 @default.
- MONDO_0017902 exactMatch Orphanet_319574 @default.
- MONDO_0017902 category Attribute @default.
- MONDO_0017902 category BiologicalEntity @default.
- MONDO_0017902 category Disease @default.
- MONDO_0017902 category DiseaseOrPhenotypicFeature @default.
- MONDO_0017902 category Entity @default.
- MONDO_0017902 category NamedThing @default.
- MONDO_0017902 category OntologyClass @default.
- MONDO_0017902 category OrganismAttribute @default.
- MONDO_0017902 category PhenotypicQuality @default.
- MONDO_0017902 category ThingWithTaxon @default.