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- NCIT_C124057 IAO_0000115 "A rare brain developmental disorder caused by mutations in the TSEN54, TSEN2, TSEN34, or SEPSECS gene. The pons and cerebellum are the brain structures that are more severely affected. It is characterized by microcephaly, lack of voluntary motor skills, dysphagia, inability to communicate, abnormal patterns of movement, and spasticity." @default.
- NCIT_C124057 NCIT_NHC0 "C124057" @default.
- NCIT_C124057 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C124057 NCIT_P108 "Pontocerebellar Hypoplasia Type 2" @default.
- NCIT_C124057 NCIT_P207 "C2932714" @default.
- NCIT_C124057 NCIT_R100 NCIT_C12219 @default.
- NCIT_C124057 NCIT_R100 NCIT_C12438 @default.
- NCIT_C124057 NCIT_R100 NCIT_C12755 @default.
- NCIT_C124057 NCIT_R100 NCIT_C12919 @default.
- NCIT_C124057 NCIT_R100 NCIT_C13040 @default.
- NCIT_C124057 NCIT_R100 NCIT_C32221 @default.
- NCIT_C124057 normalizedInformationContent "100" @default.
- NCIT_C124057 referenceCount "1" @default.
- NCIT_C124057 hasExactSynonym "PCH2" @default.
- NCIT_C124057 hasExactSynonym "Pontocerebellar Hypoplasia Type 2" @default.
- NCIT_C124057 type Class @default.
- NCIT_C124057 isDefinedBy ncit.owl @default.
- NCIT_C124057 label "Pontocerebellar Hypoplasia Type 2" @default.
- NCIT_C124057 subClassOf NCIT_C124057 @default.
- NCIT_C124057 subClassOf NCIT_C26835 @default.
- NCIT_C124057 subClassOf NCIT_C27551 @default.
- NCIT_C124057 subClassOf NCIT_C27586 @default.
- NCIT_C124057 subClassOf NCIT_C27588 @default.
- NCIT_C124057 subClassOf NCIT_C2934 @default.
- NCIT_C124057 subClassOf NCIT_C2991 @default.
- NCIT_C124057 subClassOf NCIT_C53529 @default.
- NCIT_C124057 subClassOf NCIT_C53531 @default.
- NCIT_C124057 subClassOf NCIT_C7057 @default.
- NCIT_C124057 subClassOf NCIT_C89328 @default.
- NCIT_C124057 subClassOf NCIT_C89330 @default.
- NCIT_C124057 subClassOf NCIT_C89338 @default.
- NCIT_C124057 subClassOf NCIT_C96412 @default.
- NCIT_C124057 subClassOf NCIT_C96413 @default.
- NCIT_C124057 subClassOf NCIT_C97154 @default.