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- NCIT_C123813 IAO_0000115 "A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and a skin abnormality called cutis gyrata. The craniosynostosis results in a cloverleaf-shaped skull, wide-set eyes, ear abnormalities, underdeveloped upper jaw, and developmental delays. Cutis gyrata is characterized by a wrinkled skin appearance, especially on the face, near the ears, and on the palms and soles." @default.
- NCIT_C123813 NCIT_NHC0 "C123813" @default.
- NCIT_C123813 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C123813 NCIT_P108 "Beare-Stevenson Cutis Gyrata Syndrome" @default.
- NCIT_C123813 NCIT_P207 "C1852406" @default.
- NCIT_C123813 NCIT_P322 "Cellosaurus" @default.
- NCIT_C123813 NCIT_R176 NCIT_C16612 @default.
- NCIT_C123813 NCIT_R176 NCIT_C19930 @default.
- NCIT_C123813 NCIT_R176 NCIT_C19931 @default.
- NCIT_C123813 NCIT_R176 NCIT_C20103 @default.
- NCIT_C123813 NCIT_R176 NCIT_C20719 @default.
- NCIT_C123813 NCIT_R176 NCIT_C21281 @default.
- NCIT_C123813 NCIT_R176 NCIT_C21295 @default.
- NCIT_C123813 NCIT_R176 NCIT_C25870 @default.
- NCIT_C123813 NCIT_R176 NCIT_C25871 @default.
- NCIT_C123813 NCIT_R176 NCIT_C25872 @default.
- NCIT_C123813 normalizedInformationContent "100" @default.
- NCIT_C123813 referenceCount "1" @default.
- NCIT_C123813 hasExactSynonym "Beare-Stevenson Cutis Gyrata Syndrome" @default.
- NCIT_C123813 inSubset NCIT_C165258 @default.
- NCIT_C123813 inSubset NCIT_C192842 @default.
- NCIT_C123813 type Class @default.
- NCIT_C123813 isDefinedBy ncit.owl @default.
- NCIT_C123813 label "Beare-Stevenson Cutis Gyrata Syndrome" @default.
- NCIT_C123813 subClassOf B4480e447d0ea662b134b04b3b7a3db20 @default.
- NCIT_C123813 subClassOf B9ef4b25ecbc1103f9cda78060d443c67 @default.
- NCIT_C123813 subClassOf NCIT_C123813 @default.
- NCIT_C123813 subClassOf NCIT_C28193 @default.
- NCIT_C123813 subClassOf NCIT_C2991 @default.
- NCIT_C123813 subClassOf NCIT_C4873 @default.
- NCIT_C123813 subClassOf NCIT_C53529 @default.
- NCIT_C123813 subClassOf NCIT_C53543 @default.
- NCIT_C123813 subClassOf NCIT_C53547 @default.
- NCIT_C123813 subClassOf NCIT_C7057 @default.