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- NCIT_C170731 IAO_0000115 "An autosomal recessive inherited disorder, caused by mutation(s) in the MMP14 gene, encoding matrix metalloproteinase-14. It is characterized by short stature, coarse facial features, flat nose, joint contractures, severe osteolysis in the hands and feet, and generalized osteoporosis." @default.
- NCIT_C170731 NCIT_NHC0 "C170731" @default.
- NCIT_C170731 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C170731 NCIT_P108 "Winchester Syndrome" @default.
- NCIT_C170731 NCIT_P207 "C4016688" @default.
- NCIT_C170731 NCIT_P322 "Cellosaurus" @default.
- NCIT_C170731 NCIT_R176 NCIT_C16612 @default.
- NCIT_C170731 NCIT_R176 NCIT_C21275 @default.
- NCIT_C170731 NCIT_R176 NCIT_C21281 @default.
- NCIT_C170731 NCIT_R176 NCIT_C25804 @default.
- NCIT_C170731 NCIT_R176 NCIT_C26003 @default.
- NCIT_C170731 NCIT_R176 NCIT_C41049 @default.
- NCIT_C170731 normalizedInformationContent "100" @default.
- NCIT_C170731 referenceCount "1" @default.
- NCIT_C170731 hasExactSynonym "Torg-Winchester Syndrome" @default.
- NCIT_C170731 hasExactSynonym "WNCHRS" @default.
- NCIT_C170731 hasExactSynonym "Winchester Syndrome" @default.
- NCIT_C170731 inSubset NCIT_C165258 @default.
- NCIT_C170731 inSubset NCIT_C192842 @default.
- NCIT_C170731 type Class @default.
- NCIT_C170731 isDefinedBy ncit.owl @default.
- NCIT_C170731 label "Winchester Syndrome" @default.
- NCIT_C170731 subClassOf B9e02b34fa01a0eb5398734338a46b767 @default.
- NCIT_C170731 subClassOf Bfd4aee0816dd52ccb1f32462f7ac2aab @default.
- NCIT_C170731 subClassOf NCIT_C170731 @default.
- NCIT_C170731 subClassOf NCIT_C170732 @default.
- NCIT_C170731 subClassOf NCIT_C28193 @default.
- NCIT_C170731 subClassOf NCIT_C2991 @default.
- NCIT_C170731 subClassOf NCIT_C4873 @default.
- NCIT_C170731 subClassOf NCIT_C53529 @default.
- NCIT_C170731 subClassOf NCIT_C53543 @default.
- NCIT_C170731 subClassOf NCIT_C53547 @default.
- NCIT_C170731 subClassOf NCIT_C7057 @default.