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- NCIT_C84609 IAO_0000115 "A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects." @default.
- NCIT_C84609 NCIT_NHC0 "C84609" @default.
- NCIT_C84609 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84609 NCIT_P108 "Campomelic Dysplasia" @default.
- NCIT_C84609 NCIT_P207 "C1861922" @default.
- NCIT_C84609 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84609 NCIT_P322 "NICHD" @default.
- NCIT_C84609 NCIT_P325 "A condition associated with heterozygous mutation(s) in the SOX9 gene, characterized in 46,XY individuals by atypical development of the gonads ("sex reversal"), internal and external reproductive structures, with (campomelic) or without (acampomelic) skeletal dysplasia." @default.
- NCIT_C84609 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84609 NCIT_R176 NCIT_C20420 @default.
- NCIT_C84609 NCIT_R176 NCIT_C54362 @default.
- NCIT_C84609 NCIT_R176 NCIT_C75516 @default.
- NCIT_C84609 normalizedInformationContent "95.413332725061409" @default.
- NCIT_C84609 referenceCount "2" @default.
- NCIT_C84609 hasExactSynonym "CMD" @default.
- NCIT_C84609 hasExactSynonym "Campomelic Dysplasia" @default.
- NCIT_C84609 inSubset NCIT_C118467 @default.
- NCIT_C84609 inSubset NCIT_C165258 @default.
- NCIT_C84609 inSubset NCIT_C192842 @default.
- NCIT_C84609 inSubset NCIT_C90259 @default.
- NCIT_C84609 inSubset NCIT_C99147 @default.
- NCIT_C84609 type Class @default.
- NCIT_C84609 isDefinedBy ncit.owl @default.
- NCIT_C84609 label "Campomelic Dysplasia" @default.
- NCIT_C84609 subClassOf B58e7d61a55f06d4da6ae92fef65361ce @default.
- NCIT_C84609 subClassOf Bfa23951aef2066cd9b828a8f9aca6219 @default.
- NCIT_C84609 subClassOf NCIT_C2991 @default.
- NCIT_C84609 subClassOf NCIT_C4873 @default.
- NCIT_C84609 subClassOf NCIT_C53529 @default.
- NCIT_C84609 subClassOf NCIT_C53543 @default.
- NCIT_C84609 subClassOf NCIT_C53547 @default.
- NCIT_C84609 subClassOf NCIT_C7057 @default.
- NCIT_C84609 subClassOf NCIT_C84609 @default.