About: Cleidocranial Dysplasia     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Cleidocranial Dysplasia
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Cleidocranial Dysplasia
UMLS_CUI
  • C0008928
Legacy_Concept_Name
  • Cleidocranial_Dysplasia
FULL_SYN
  • Cleidocranial DysplasiaPTNCI
  • Cleidocranial DysostosisSYNCI
DEFINITION
  • 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.NCI
code
  • C75020
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