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- NCIT_C85222 IAO_0000115 "A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes." @default.
- NCIT_C85222 NCIT_NHC0 "C85222" @default.
- NCIT_C85222 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C85222 NCIT_P108 "Waardenburg Syndrome" @default.
- NCIT_C85222 NCIT_P207 "C3266898" @default.
- NCIT_C85222 NCIT_P322 "Cellosaurus" @default.
- NCIT_C85222 NCIT_P322 "NICHD" @default.
- NCIT_C85222 normalizedInformationContent "87.123597049860606" @default.
- NCIT_C85222 referenceCount "7" @default.
- NCIT_C85222 hasExactSynonym "Waardenburg Syndrome" @default.
- NCIT_C85222 hasExactSynonym "Waardenburg's Syndrome" @default.
- NCIT_C85222 inSubset NCIT_C165258 @default.
- NCIT_C85222 inSubset NCIT_C192842 @default.
- NCIT_C85222 inSubset NCIT_C90259 @default.
- NCIT_C85222 inSubset NCIT_C99147 @default.
- NCIT_C85222 type Class @default.
- NCIT_C85222 isDefinedBy ncit.owl @default.
- NCIT_C85222 label "Waardenburg Syndrome" @default.
- NCIT_C85222 subClassOf NCIT_C28193 @default.
- NCIT_C85222 subClassOf NCIT_C2991 @default.
- NCIT_C85222 subClassOf NCIT_C4873 @default.
- NCIT_C85222 subClassOf NCIT_C53529 @default.
- NCIT_C85222 subClassOf NCIT_C53543 @default.
- NCIT_C85222 subClassOf NCIT_C53547 @default.
- NCIT_C85222 subClassOf NCIT_C7057 @default.
- NCIT_C85222 subClassOf NCIT_C85222 @default.