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- MONDO_0017901 IAO_0000115 "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)." @default.
- MONDO_0017901 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/4882" @default.
- MONDO_0017901 RO_0000053 BFO_0000001 @default.
- MONDO_0017901 RO_0000053 BFO_0000002 @default.
- MONDO_0017901 RO_0000053 BFO_0000020 @default.
- MONDO_0017901 RO_0000053 COB_0000502 @default.
- MONDO_0017901 RO_0000053 MONDO_0021125 @default.
- MONDO_0017901 RO_0000053 MONDO_0021149 @default.
- MONDO_0017901 RO_0000053 MONDO_0021152 @default.
- MONDO_0017901 RO_0000053 PATO_0000001 @default.
- MONDO_0017901 RO_0002410 5439 @default.
- MONDO_0017901 RO_0004000 5439 @default.
- MONDO_0017901 RO_0004003 5439 @default.
- MONDO_0017901 excluded_subClassOf MONDO_0008856 @default.
- MONDO_0017901 predisposes_towards BFO_0000001 @default.
- MONDO_0017901 predisposes_towards BFO_0000002 @default.
- MONDO_0017901 predisposes_towards BFO_0000016 @default.
- MONDO_0017901 predisposes_towards BFO_0000017 @default.
- MONDO_0017901 predisposes_towards BFO_0000020 @default.
- MONDO_0017901 predisposes_towards COB_0000033 @default.
- MONDO_0017901 predisposes_towards COB_0000111 @default.
- MONDO_0017901 predisposes_towards COB_0000502 @default.
- MONDO_0017901 predisposes_towards MONDO_0000001 @default.
- MONDO_0017901 predisposes_towards MONDO_0005113 @default.
- MONDO_0017901 predisposes_towards MONDO_0005550 @default.
- MONDO_0017901 predisposes_towards MONDO_0020590 @default.
- MONDO_0017901 predisposes_towards MONDO_0700096 @default.
- MONDO_0017901 predisposes_towards OGMS_0000031 @default.
- MONDO_0017901 predisposes_towards PATO_0000001 @default.
- MONDO_0017901 normalizedInformationContent "100" @default.
- MONDO_0017901 referenceCount "1" @default.
- MONDO_0017901 hasDbXref "GARD:17459" @default.
- MONDO_0017901 hasDbXref "Orphanet:319569" @default.
- MONDO_0017901 hasDbXref "UMLS:CN203960" @default.
- MONDO_0017901 hasExactSynonym "IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" @default.
- MONDO_0017901 hasExactSynonym "autosomal recessive MSMD due to partial IFNgammaR1 deficiency" @default.
- MONDO_0017901 hasExactSynonym "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency" @default.
- MONDO_0017901 hasExactSynonym "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" @default.
- MONDO_0017901 hasExactSynonym "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" @default.
- MONDO_0017901 id "MONDO:0017901" @default.
- MONDO_0017901 inSubset gard_rare @default.
- MONDO_0017901 inSubset nord_rare @default.
- MONDO_0017901 inSubset ordo_disease @default.
- MONDO_0017901 inSubset orphanet_rare @default.
- MONDO_0017901 inSubset predisposition @default.
- MONDO_0017901 inSubset rare @default.
- MONDO_0017901 type Class @default.
- MONDO_0017901 isDefinedBy mondo.owl @default.
- MONDO_0017901 label "autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" @default.
- MONDO_0017901 subClassOf B285bdd1f7316549ebbc607fb6e40060d @default.
- MONDO_0017901 subClassOf B34578494c82eda1d0223ff6a266c4729 @default.
- MONDO_0017901 subClassOf B9107b0931197fee23e02fb0db2848d97 @default.
- MONDO_0017901 subClassOf Bc701f606e8c619dd2d69e972ac254523 @default.
- MONDO_0017901 subClassOf BFO_0000001 @default.
- MONDO_0017901 subClassOf BFO_0000002 @default.
- MONDO_0017901 subClassOf BFO_0000016 @default.
- MONDO_0017901 subClassOf BFO_0000017 @default.
- MONDO_0017901 subClassOf BFO_0000020 @default.
- MONDO_0017901 subClassOf COB_0000033 @default.
- MONDO_0017901 subClassOf COB_0000111 @default.
- MONDO_0017901 subClassOf COB_0000502 @default.
- MONDO_0017901 subClassOf MONDO_0015979 @default.
- MONDO_0017901 subClassOf MONDO_0017901 @default.
- MONDO_0017901 subClassOf MONDO_0020573 @default.
- MONDO_0017901 subClassOf MONDO_0042489 @default.
- MONDO_0017901 subClassOf PATO_0000001 @default.
- MONDO_0017901 exactMatch CN203960 @default.
- MONDO_0017901 exactMatch Orphanet_319569 @default.
- MONDO_0017901 category Attribute @default.
- MONDO_0017901 category BiologicalEntity @default.
- MONDO_0017901 category Disease @default.
- MONDO_0017901 category DiseaseOrPhenotypicFeature @default.
- MONDO_0017901 category Entity @default.
- MONDO_0017901 category NamedThing @default.
- MONDO_0017901 category OntologyClass @default.
- MONDO_0017901 category OrganismAttribute @default.
- MONDO_0017901 category PhenotypicQuality @default.
- MONDO_0017901 category ThingWithTaxon @default.