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- MONDO_0100502 IAO_0000115 "Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer." @default.
- MONDO_0100502 RO_0000053 BFO_0000001 @default.
- MONDO_0100502 RO_0000053 BFO_0000002 @default.
- MONDO_0100502 RO_0000053 BFO_0000020 @default.
- MONDO_0100502 RO_0000053 COB_0000502 @default.
- MONDO_0100502 RO_0000053 MONDO_0021125 @default.
- MONDO_0100502 RO_0000053 MONDO_0021149 @default.
- MONDO_0100502 RO_0000053 MONDO_0021152 @default.
- MONDO_0100502 RO_0000053 PATO_0000001 @default.
- MONDO_0100502 RO_0002410 8028 @default.
- MONDO_0100502 RO_0004000 8028 @default.
- MONDO_0100502 RO_0004003 8028 @default.
- MONDO_0100502 predisposes_towards BFO_0000001 @default.
- MONDO_0100502 predisposes_towards BFO_0000002 @default.
- MONDO_0100502 predisposes_towards BFO_0000016 @default.
- MONDO_0100502 predisposes_towards BFO_0000017 @default.
- MONDO_0100502 predisposes_towards BFO_0000020 @default.
- MONDO_0100502 predisposes_towards COB_0000033 @default.
- MONDO_0100502 predisposes_towards COB_0000111 @default.
- MONDO_0100502 predisposes_towards COB_0000502 @default.
- MONDO_0100502 predisposes_towards MONDO_0000001 @default.
- MONDO_0100502 predisposes_towards MONDO_0005070 @default.
- MONDO_0100502 predisposes_towards MONDO_0023370 @default.
- MONDO_0100502 predisposes_towards MONDO_0045024 @default.
- MONDO_0100502 predisposes_towards MONDO_0700096 @default.
- MONDO_0100502 predisposes_towards OGMS_0000031 @default.
- MONDO_0100502 predisposes_towards PATO_0000001 @default.
- MONDO_0100502 normalizedInformationContent "100" @default.
- MONDO_0100502 referenceCount "1" @default.
- MONDO_0100502 id "MONDO:0100502" @default.
- MONDO_0100502 type Class @default.
- MONDO_0100502 isDefinedBy mondo.owl @default.
- MONDO_0100502 label "NTHL1-deficiency tumor predisposition syndrome" @default.
- MONDO_0100502 subClassOf B33b071cf859aca24ffbc3b4d67f30e9a @default.
- MONDO_0100502 subClassOf B99905c951f91c0573ce4fdb84fecf3b9 @default.
- MONDO_0100502 subClassOf B9ad0eda43bf0f7ad67a80aff0877ff71 @default.
- MONDO_0100502 subClassOf Bf060fb18f0b3228b7cd5b6a5bc92eb51 @default.
- MONDO_0100502 subClassOf BFO_0000001 @default.
- MONDO_0100502 subClassOf BFO_0000002 @default.
- MONDO_0100502 subClassOf BFO_0000016 @default.
- MONDO_0100502 subClassOf BFO_0000017 @default.
- MONDO_0100502 subClassOf BFO_0000020 @default.
- MONDO_0100502 subClassOf COB_0000033 @default.
- MONDO_0100502 subClassOf COB_0000111 @default.
- MONDO_0100502 subClassOf COB_0000502 @default.
- MONDO_0100502 subClassOf MONDO_0020573 @default.
- MONDO_0100502 subClassOf MONDO_0042489 @default.
- MONDO_0100502 subClassOf MONDO_0100502 @default.
- MONDO_0100502 subClassOf PATO_0000001 @default.
- MONDO_0100502 category Attribute @default.
- MONDO_0100502 category BiologicalEntity @default.
- MONDO_0100502 category Disease @default.
- MONDO_0100502 category DiseaseOrPhenotypicFeature @default.
- MONDO_0100502 category Entity @default.
- MONDO_0100502 category NamedThing @default.
- MONDO_0100502 category OntologyClass @default.
- MONDO_0100502 category OrganismAttribute @default.
- MONDO_0100502 category PhenotypicQuality @default.
- MONDO_0100502 category ThingWithTaxon @default.