FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cleidocranial dysplasia ID (Ontology) DOID:13994 (Human 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.
Also Known As "cleidocranial dysostosis" ; "Marie-Sainton Disease"
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 Genes
 cleidocranial dysplasia       3
 for disease ribbon | cleidocranial dysplasia       3
 model of | cleidocranial dysplasia       3
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
bone development disease        |
 |__osteochondrodysplasia_______|
cartilage disease               |
 |__osteochondrodysplasia_______|
                                cleidocranial dysplasia  3 rec.
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Is a autosomal dominant disease
osteochondrodysplasia
Part of
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Synonyms
  • "cleidocranial dysostosis" EXACT
    "Marie-Sainton Disease" EXACT
Secondary IDs
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GARD:6118
ICD10CM:Q74.0
MESH:D002973
MIM:119600
MIM:216330
NCI:C75020
ORDO:1452
SNOMEDCT_US_2023_03_01:65976001
UMLS_CUI:C0008928