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Metadata
DOID DOID:13994
Name cleidocranial dysplasia
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.
http://en.wikipedia.org/wiki/Cleidocranial_dysostosis, http://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia, http://www.faces-cranio.org/Disord/CCD.htm, http://www.healthline.com/galecontent/cleidocranial-dysplasia-1, http://www.nlm.nih.gov/medlineplus/ency/article/001589.htm, http://www.umm.edu/ency/article/001589.htm
Xrefs

GARD:6118

ICD10CM:Q74.0

MESH:D002973

NCI:C75020

OMIM:119600

OMIM:216330

ORDO:1452

SNOMEDCT_US_2018_03_01:65976001

UMLS_CUI:C0008928

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

cleidocranial dysostosis [EXACT]

Marie-Sainton Disease [EXACT]

Relationships

is_a osteochondrodysplasia

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