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- NCIT_C135088 IAO_0000115 "An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia." @default.
- NCIT_C135088 NCIT_NHC0 "C135088" @default.
- NCIT_C135088 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C135088 NCIT_P108 "Spondyloperipheral Dysplasia" @default.
- NCIT_C135088 NCIT_P207 "C0796173" @default.
- NCIT_C135088 NCIT_P322 "Cellosaurus" @default.
- NCIT_C135088 NCIT_R176 NCIT_C16612 @default.
- NCIT_C135088 NCIT_R176 NCIT_C20744 @default.
- NCIT_C135088 NCIT_R176 NCIT_C26000 @default.
- NCIT_C135088 NCIT_R176 NCIT_C26001 @default.
- NCIT_C135088 NCIT_R176 NCIT_C75315 @default.
- NCIT_C135088 normalizedInformationContent "100" @default.
- NCIT_C135088 referenceCount "1" @default.
- NCIT_C135088 hasExactSynonym "Spondyloperipheral Dysplasia" @default.
- NCIT_C135088 inSubset NCIT_C165258 @default.
- NCIT_C135088 inSubset NCIT_C192842 @default.
- NCIT_C135088 type Class @default.
- NCIT_C135088 isDefinedBy ncit.owl @default.
- NCIT_C135088 label "Spondyloperipheral Dysplasia" @default.
- NCIT_C135088 subClassOf B127a86dfbdf2b62a28e11c974f897e95 @default.
- NCIT_C135088 subClassOf Beb741637849ce536f88b0ded84b1766e @default.
- NCIT_C135088 subClassOf NCIT_C135088 @default.
- NCIT_C135088 subClassOf NCIT_C2991 @default.
- NCIT_C135088 subClassOf NCIT_C4873 @default.
- NCIT_C135088 subClassOf NCIT_C53529 @default.
- NCIT_C135088 subClassOf NCIT_C53543 @default.
- NCIT_C135088 subClassOf NCIT_C53547 @default.
- NCIT_C135088 subClassOf NCIT_C7057 @default.