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- NCIT_C75008 IAO_0000115 "A rare autosomal dominant syndrome caused by mutations in the PAX3 gene. It is characterized by hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes." @default.
- NCIT_C75008 NCIT_NHC0 "C75008" @default.
- NCIT_C75008 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C75008 NCIT_P108 "Waardenburg Syndrome Type 1" @default.
- NCIT_C75008 NCIT_P207 "C1847800" @default.
- NCIT_C75008 NCIT_P322 "Cellosaurus" @default.
- NCIT_C75008 NCIT_P366 "Waardenburg_Syndrome_Type_1" @default.
- NCIT_C75008 NCIT_R176 NCIT_C16612 @default.
- NCIT_C75008 NCIT_R176 NCIT_C20420 @default.
- NCIT_C75008 NCIT_R176 NCIT_C24658 @default.
- NCIT_C75008 NCIT_R176 NCIT_C54362 @default.
- NCIT_C75008 normalizedInformationContent "100" @default.
- NCIT_C75008 referenceCount "1" @default.
- NCIT_C75008 hasExactSynonym "Waardenburg Syndrome Type 1" @default.
- NCIT_C75008 hasExactSynonym "Waardenburg Syndrome Type I" @default.
- NCIT_C75008 inSubset NCIT_C165258 @default.
- NCIT_C75008 inSubset NCIT_C192842 @default.
- NCIT_C75008 type Class @default.
- NCIT_C75008 isDefinedBy ncit.owl @default.
- NCIT_C75008 label "Waardenburg Syndrome Type 1" @default.
- NCIT_C75008 subClassOf B3bef6438bc07f53c5dc1c6e4fc4cb29f @default.
- NCIT_C75008 subClassOf Bd1512084b3fe79d5e8d2399a10c82e02 @default.
- NCIT_C75008 subClassOf NCIT_C28193 @default.
- NCIT_C75008 subClassOf NCIT_C2991 @default.
- NCIT_C75008 subClassOf NCIT_C4873 @default.
- NCIT_C75008 subClassOf NCIT_C53529 @default.
- NCIT_C75008 subClassOf NCIT_C53543 @default.
- NCIT_C75008 subClassOf NCIT_C53547 @default.
- NCIT_C75008 subClassOf NCIT_C7057 @default.
- NCIT_C75008 subClassOf NCIT_C75008 @default.
- NCIT_C75008 subClassOf NCIT_C85222 @default.