OBO ID: DOID:13994
Term Name: cleidocranial dysplasia Search Ontology:
Synonyms:
  • cleidocranial dysostosis
  • Marie-Sainton Disease
Definition: An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. (5)
References:
Ontology: Human Disease   ( DOID:13994 )
Relationships
is a type of:
OTHER cleidocranial dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RUNX2 Cleidocranial dysplasia 119600
Cleidocranial dysplasia, forme fruste, with brachydactyly 119600
Cleidocranial dysplasia, forme fruste, dental anomalies only 119600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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