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- MONDO_0012682 IAO_0000115 "Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene." @default.
- MONDO_0012682 RO_0000053 BFO_0000001 @default.
- MONDO_0012682 RO_0000053 BFO_0000002 @default.
- MONDO_0012682 RO_0000053 BFO_0000020 @default.
- MONDO_0012682 RO_0000053 COB_0000502 @default.
- MONDO_0012682 RO_0000053 MONDO_0021125 @default.
- MONDO_0012682 RO_0000053 MONDO_0021149 @default.
- MONDO_0012682 RO_0000053 MONDO_0021152 @default.
- MONDO_0012682 RO_0000053 PATO_0000001 @default.
- MONDO_0012682 RO_0002410 12440 @default.
- MONDO_0012682 RO_0004000 12440 @default.
- MONDO_0012682 RO_0004003 12440 @default.
- MONDO_0012682 predisposes_towards BFO_0000001 @default.
- MONDO_0012682 predisposes_towards BFO_0000002 @default.
- MONDO_0012682 predisposes_towards BFO_0000016 @default.
- MONDO_0012682 predisposes_towards BFO_0000017 @default.
- MONDO_0012682 predisposes_towards BFO_0000020 @default.
- MONDO_0012682 predisposes_towards COB_0000033 @default.
- MONDO_0012682 predisposes_towards COB_0000111 @default.
- MONDO_0012682 predisposes_towards COB_0000502 @default.
- MONDO_0012682 predisposes_towards MONDO_0000001 @default.
- MONDO_0012682 predisposes_towards MONDO_0005550 @default.
- MONDO_0012682 predisposes_towards MONDO_0700096 @default.
- MONDO_0012682 predisposes_towards OGMS_0000031 @default.
- MONDO_0012682 predisposes_towards PATO_0000001 @default.
- MONDO_0012682 normalizedInformationContent "100" @default.
- MONDO_0012682 referenceCount "1" @default.
- MONDO_0012682 hasDbXref "DOID:0111989" @default.
- MONDO_0012682 hasDbXref "GARD:17514" @default.
- MONDO_0012682 hasDbXref "MESH:C566928" @default.
- MONDO_0012682 hasDbXref "OMIM:611521" @default.
- MONDO_0012682 hasDbXref "Orphanet:331226" @default.
- MONDO_0012682 hasDbXref "UMLS:C1969086" @default.
- MONDO_0012682 hasExactSynonym "HIES with atypical Mycobacteriosis, autosomal recessive" @default.
- MONDO_0012682 hasExactSynonym "IMD35" @default.
- MONDO_0012682 hasExactSynonym "TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" @default.
- MONDO_0012682 hasExactSynonym "TYK2 deficiency" @default.
- MONDO_0012682 hasExactSynonym "autosomal recessive hyper-IgE syndrome due to TYK2 deficiency" @default.
- MONDO_0012682 hasExactSynonym "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2" @default.
- MONDO_0012682 hasExactSynonym "hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive" @default.
- MONDO_0012682 hasExactSynonym "immunodeficiency 35" @default.
- MONDO_0012682 hasExactSynonym "immunodeficiency type 35" @default.
- MONDO_0012682 hasExactSynonym "susceptibility to infection due to TYK2 deficiency" @default.
- MONDO_0012682 hasExactSynonym "tyrosine kinase 2 deficiency" @default.
- MONDO_0012682 id "MONDO:0012682" @default.
- MONDO_0012682 inSubset gard_rare @default.
- MONDO_0012682 inSubset nord_rare @default.
- MONDO_0012682 inSubset ordo_disease @default.
- MONDO_0012682 inSubset orphanet_rare @default.
- MONDO_0012682 inSubset predisposition @default.
- MONDO_0012682 inSubset rare @default.
- MONDO_0012682 type Class @default.
- MONDO_0012682 comment "OMIM has the synonym hyper-IgE syndrome with atypical mycobacteriosis, autosomal recessive but the clinical description does not suggest that this is a type of hyper-IgE syndrome. Some patients presented with hyper-IgE syndrome, whereas one had mildly increased serum IgE." @default.
- MONDO_0012682 isDefinedBy mondo.owl @default.
- MONDO_0012682 label "immunodeficiency 35" @default.
- MONDO_0012682 subClassOf B40cb85378ddd4c3de4e9ca6947728fa9 @default.
- MONDO_0012682 subClassOf Bf90f2be1a47628401384e1d8bce00446 @default.
- MONDO_0012682 subClassOf BFO_0000001 @default.
- MONDO_0012682 subClassOf BFO_0000002 @default.
- MONDO_0012682 subClassOf BFO_0000016 @default.
- MONDO_0012682 subClassOf BFO_0000017 @default.
- MONDO_0012682 subClassOf BFO_0000020 @default.
- MONDO_0012682 subClassOf COB_0000033 @default.
- MONDO_0012682 subClassOf COB_0000111 @default.
- MONDO_0012682 subClassOf COB_0000502 @default.
- MONDO_0012682 subClassOf MONDO_0012682 @default.
- MONDO_0012682 subClassOf MONDO_0015979 @default.
- MONDO_0012682 subClassOf MONDO_0020573 @default.
- MONDO_0012682 subClassOf MONDO_0042489 @default.
- MONDO_0012682 subClassOf PATO_0000001 @default.
- MONDO_0012682 exactMatch C566928 @default.
- MONDO_0012682 exactMatch C1969086 @default.
- MONDO_0012682 exactMatch DOID_0111989 @default.
- MONDO_0012682 exactMatch Orphanet_331226 @default.
- MONDO_0012682 exactMatch 611521 @default.
- MONDO_0012682 category Attribute @default.
- MONDO_0012682 category BiologicalEntity @default.
- MONDO_0012682 category Disease @default.
- MONDO_0012682 category DiseaseOrPhenotypicFeature @default.
- MONDO_0012682 category Entity @default.
- MONDO_0012682 category NamedThing @default.
- MONDO_0012682 category OntologyClass @default.
- MONDO_0012682 category OrganismAttribute @default.
- MONDO_0012682 category PhenotypicQuality @default.
- MONDO_0012682 category ThingWithTaxon @default.