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- NCIT_C75462 IAO_0000115 "A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene." @default.
- NCIT_C75462 NCIT_NHC0 "C75462" @default.
- NCIT_C75462 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C75462 NCIT_P108 "Angelman Syndrome" @default.
- NCIT_C75462 NCIT_P207 "C0162635" @default.
- NCIT_C75462 NCIT_P322 "Cellosaurus" @default.
- NCIT_C75462 NCIT_P322 "NICHD" @default.
- NCIT_C75462 NCIT_P366 "Angelman_Syndrome" @default.
- NCIT_C75462 NCIT_R174 NCIT_C12219 @default.
- NCIT_C75462 NCIT_R174 NCIT_C13202 @default.
- NCIT_C75462 NCIT_R174 NCIT_C13203 @default.
- NCIT_C75462 NCIT_R174 NCIT_C13210 @default.
- NCIT_C75462 NCIT_R174 NCIT_C13404 @default.
- NCIT_C75462 NCIT_R174 NCIT_C14134 @default.
- NCIT_C75462 NCIT_R174 NCIT_C21599 @default.
- NCIT_C75462 normalizedInformationContent "100" @default.
- NCIT_C75462 referenceCount "1" @default.
- NCIT_C75462 hasExactSynonym "Angelman Syndrome" @default.
- NCIT_C75462 inSubset NCIT_C165258 @default.
- NCIT_C75462 inSubset NCIT_C192842 @default.
- NCIT_C75462 inSubset NCIT_C90259 @default.
- NCIT_C75462 inSubset NCIT_C99147 @default.
- NCIT_C75462 type Class @default.
- NCIT_C75462 isDefinedBy ncit.owl @default.
- NCIT_C75462 label "Angelman Syndrome" @default.
- NCIT_C75462 subClassOf B11d14a6b51e59f729cad7b7bc177f032 @default.
- NCIT_C75462 subClassOf B40b8125e49ed0c832f13da1cea2a7fa7 @default.
- NCIT_C75462 subClassOf NCIT_C28193 @default.
- NCIT_C75462 subClassOf NCIT_C2991 @default.
- NCIT_C75462 subClassOf NCIT_C4873 @default.
- NCIT_C75462 subClassOf NCIT_C53529 @default.
- NCIT_C75462 subClassOf NCIT_C53543 @default.
- NCIT_C75462 subClassOf NCIT_C53547 @default.
- NCIT_C75462 subClassOf NCIT_C7057 @default.
- NCIT_C75462 subClassOf NCIT_C75462 @default.
- NCIT_C75462 subClassOf NCIT_C85215 @default.