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- NCIT_C75020 IAO_0000115 "A rare autosomal dominant disorder caused by mutations in the RUNX2 gene. It is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature." @default.
- NCIT_C75020 NCIT_NHC0 "C75020" @default.
- NCIT_C75020 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C75020 NCIT_P108 "Cleidocranial Dysplasia" @default.
- NCIT_C75020 NCIT_P207 "C0008928" @default.
- NCIT_C75020 NCIT_P322 "Cellosaurus" @default.
- NCIT_C75020 NCIT_P322 "NICHD" @default.
- NCIT_C75020 NCIT_P325 "A rare autosomal dominant condition caused by mutation(s) in the RUNX2 gene, encoding runt-related transcription factor 2. This condition is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature." @default.
- NCIT_C75020 NCIT_P366 "Cleidocranial_Dysplasia" @default.
- NCIT_C75020 NCIT_R176 NCIT_C16612 @default.
- NCIT_C75020 NCIT_R176 NCIT_C20420 @default.
- NCIT_C75020 NCIT_R176 NCIT_C54362 @default.
- NCIT_C75020 NCIT_R176 NCIT_C91785 @default.
- NCIT_C75020 normalizedInformationContent "90.826665450122817" @default.
- NCIT_C75020 referenceCount "4" @default.
- NCIT_C75020 hasExactSynonym "Cleidocranial Dysostosis" @default.
- NCIT_C75020 hasExactSynonym "Cleidocranial Dysplasia" @default.
- NCIT_C75020 inSubset NCIT_C118467 @default.
- NCIT_C75020 inSubset NCIT_C165258 @default.
- NCIT_C75020 inSubset NCIT_C192842 @default.
- NCIT_C75020 inSubset NCIT_C90259 @default.
- NCIT_C75020 type Class @default.
- NCIT_C75020 isDefinedBy ncit.owl @default.
- NCIT_C75020 label "Cleidocranial Dysplasia" @default.
- NCIT_C75020 subClassOf B39eb22389ef2205f643e64cb75efb9c2 @default.
- NCIT_C75020 subClassOf B8e7f6ac542e15873cd8a63e603310470 @default.
- NCIT_C75020 subClassOf NCIT_C28193 @default.
- NCIT_C75020 subClassOf NCIT_C2991 @default.
- NCIT_C75020 subClassOf NCIT_C4873 @default.
- NCIT_C75020 subClassOf NCIT_C53529 @default.
- NCIT_C75020 subClassOf NCIT_C53543 @default.
- NCIT_C75020 subClassOf NCIT_C53547 @default.
- NCIT_C75020 subClassOf NCIT_C7057 @default.
- NCIT_C75020 subClassOf NCIT_C75020 @default.