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- NCIT_C128115 IAO_0000115 "An autosomal dominant condition caused by mutation(s) in the COL11A1 gene, encoding collagen alpha-1(XI) chain. The syndrome may be characterized by facial dysmorphism, cataracts, myopia, hearing loss, and short stature. Mutation(s) in the COL11A1 gene are causative in Stickler syndrome, but the phenotype of Marshall syndrome is more mild." @default.
- NCIT_C128115 NCIT_NHC0 "C128115" @default.
- NCIT_C128115 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C128115 NCIT_P108 "Marshall Syndrome" @default.
- NCIT_C128115 NCIT_P207 "C0265235" @default.
- NCIT_C128115 NCIT_P322 "Cellosaurus" @default.
- NCIT_C128115 NCIT_R176 NCIT_C16612 @default.
- NCIT_C128115 NCIT_R176 NCIT_C20744 @default.
- NCIT_C128115 NCIT_R176 NCIT_C26000 @default.
- NCIT_C128115 NCIT_R176 NCIT_C26001 @default.
- NCIT_C128115 NCIT_R176 NCIT_C75313 @default.
- NCIT_C128115 normalizedInformationContent "100" @default.
- NCIT_C128115 referenceCount "1" @default.
- NCIT_C128115 hasExactSynonym "Marshall Syndrome" @default.
- NCIT_C128115 inSubset NCIT_C165258 @default.
- NCIT_C128115 inSubset NCIT_C192842 @default.
- NCIT_C128115 type Class @default.
- NCIT_C128115 isDefinedBy ncit.owl @default.
- NCIT_C128115 label "Marshall Syndrome" @default.
- NCIT_C128115 subClassOf Bd6a4bcf1012bd404f47b84a626658ab8 @default.
- NCIT_C128115 subClassOf Be6adb675937b74e15d208f8f9e7a39e8 @default.
- NCIT_C128115 subClassOf NCIT_C128115 @default.
- NCIT_C128115 subClassOf NCIT_C28193 @default.
- NCIT_C128115 subClassOf NCIT_C2991 @default.
- NCIT_C128115 subClassOf NCIT_C4873 @default.
- NCIT_C128115 subClassOf NCIT_C53529 @default.
- NCIT_C128115 subClassOf NCIT_C53543 @default.
- NCIT_C128115 subClassOf NCIT_C53547 @default.
- NCIT_C128115 subClassOf NCIT_C7057 @default.