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- NCIT_C168733 IAO_0000115 "Stickler syndrome inherited in an autosomal dominant pattern, caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain." @default.
- NCIT_C168733 NCIT_NHC0 "C168733" @default.
- NCIT_C168733 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C168733 NCIT_P108 "Stickler Syndrome Type 1" @default.
- NCIT_C168733 NCIT_P207 "C2020284" @default.
- NCIT_C168733 NCIT_P322 "Cellosaurus" @default.
- NCIT_C168733 NCIT_R176 NCIT_C16612 @default.
- NCIT_C168733 NCIT_R176 NCIT_C20744 @default.
- NCIT_C168733 NCIT_R176 NCIT_C26000 @default.
- NCIT_C168733 NCIT_R176 NCIT_C26001 @default.
- NCIT_C168733 NCIT_R176 NCIT_C75315 @default.
- NCIT_C168733 normalizedInformationContent "100" @default.
- NCIT_C168733 referenceCount "1" @default.
- NCIT_C168733 hasExactSynonym "STL1" @default.
- NCIT_C168733 hasExactSynonym "Stickler Syndrome Type 1" @default.
- NCIT_C168733 inSubset NCIT_C165258 @default.
- NCIT_C168733 inSubset NCIT_C192842 @default.
- NCIT_C168733 type Class @default.
- NCIT_C168733 isDefinedBy ncit.owl @default.
- NCIT_C168733 label "Stickler Syndrome Type 1" @default.
- NCIT_C168733 subClassOf Bdbbcd6874823e7c0059283b46e4c49f6 @default.
- NCIT_C168733 subClassOf Bedea04ceaf43250badaf37353c16a030 @default.
- NCIT_C168733 subClassOf NCIT_C168733 @default.
- NCIT_C168733 subClassOf NCIT_C28193 @default.
- NCIT_C168733 subClassOf NCIT_C2991 @default.
- NCIT_C168733 subClassOf NCIT_C4873 @default.
- NCIT_C168733 subClassOf NCIT_C53529 @default.
- NCIT_C168733 subClassOf NCIT_C53543 @default.
- NCIT_C168733 subClassOf NCIT_C53547 @default.
- NCIT_C168733 subClassOf NCIT_C7057 @default.
- NCIT_C168733 subClassOf NCIT_C74984 @default.