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- NCIT_C118635 IAO_0000115 "A rare, autosomal dominant inherited disorder caused by mutations in the COMP gene. It is characterized by short stature, short arms and legs, waddling walk, osteoarthritis, and limited range of motion at the elbows and hips." @default.
- NCIT_C118635 NCIT_NHC0 "C118635" @default.
- NCIT_C118635 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C118635 NCIT_P108 "Pseudoachondroplasia" @default.
- NCIT_C118635 NCIT_P207 "C0410538" @default.
- NCIT_C118635 NCIT_P322 "Cellosaurus" @default.
- NCIT_C118635 NCIT_R176 NCIT_C131262 @default.
- NCIT_C118635 NCIT_R176 NCIT_C16612 @default.
- NCIT_C118635 NCIT_R176 NCIT_C20744 @default.
- NCIT_C118635 NCIT_R176 NCIT_C26000 @default.
- NCIT_C118635 normalizedInformationContent "100" @default.
- NCIT_C118635 referenceCount "1" @default.
- NCIT_C118635 hasExactSynonym "Pseudoachondroplasia" @default.
- NCIT_C118635 inSubset NCIT_C165258 @default.
- NCIT_C118635 inSubset NCIT_C192842 @default.
- NCIT_C118635 type Class @default.
- NCIT_C118635 isDefinedBy ncit.owl @default.
- NCIT_C118635 label "Pseudoachondroplasia" @default.
- NCIT_C118635 subClassOf Be938808f8bfe550082fba6e16ca9d19d @default.
- NCIT_C118635 subClassOf Beaeceeddb66862fa253f85c6497a7a43 @default.
- NCIT_C118635 subClassOf NCIT_C118635 @default.
- NCIT_C118635 subClassOf NCIT_C2991 @default.
- NCIT_C118635 subClassOf NCIT_C4873 @default.
- NCIT_C118635 subClassOf NCIT_C53529 @default.
- NCIT_C118635 subClassOf NCIT_C53543 @default.
- NCIT_C118635 subClassOf NCIT_C53547 @default.
- NCIT_C118635 subClassOf NCIT_C7057 @default.