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- NCIT_C75018 IAO_0000115 "A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures." @default.
- NCIT_C75018 NCIT_NHC0 "C75018" @default.
- NCIT_C75018 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C75018 NCIT_P108 "Treacher Collins Syndrome" @default.
- NCIT_C75018 NCIT_P207 "C4229856" @default.
- NCIT_C75018 NCIT_P322 "Cellosaurus" @default.
- NCIT_C75018 NCIT_P322 "NICHD" @default.
- NCIT_C75018 NCIT_P366 "Treacher_Collins_Syndrome" @default.
- NCIT_C75018 NCIT_R176 NCIT_C16612 @default.
- NCIT_C75018 NCIT_R176 NCIT_C20194 @default.
- NCIT_C75018 NCIT_R176 NCIT_C75592 @default.
- NCIT_C75018 normalizedInformationContent "95.413332725061409" @default.
- NCIT_C75018 referenceCount "2" @default.
- NCIT_C75018 hasExactSynonym "Mandibulofacial Dysostosis" @default.
- NCIT_C75018 hasExactSynonym "Treacher Collins Syndrome" @default.
- NCIT_C75018 inSubset NCIT_C165258 @default.
- NCIT_C75018 inSubset NCIT_C192842 @default.
- NCIT_C75018 inSubset NCIT_C90259 @default.
- NCIT_C75018 inSubset NCIT_C99147 @default.
- NCIT_C75018 type Class @default.
- NCIT_C75018 isDefinedBy ncit.owl @default.
- NCIT_C75018 label "Treacher Collins Syndrome" @default.
- NCIT_C75018 subClassOf Bac6715fd1c4a35df0d25513a36830356 @default.
- NCIT_C75018 subClassOf Be7494deb88645ff024e50e733324de77 @default.
- NCIT_C75018 subClassOf NCIT_C28193 @default.
- NCIT_C75018 subClassOf NCIT_C2991 @default.
- NCIT_C75018 subClassOf NCIT_C4873 @default.
- NCIT_C75018 subClassOf NCIT_C53529 @default.
- NCIT_C75018 subClassOf NCIT_C53543 @default.
- NCIT_C75018 subClassOf NCIT_C53547 @default.
- NCIT_C75018 subClassOf NCIT_C7057 @default.
- NCIT_C75018 subClassOf NCIT_C75018 @default.