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Cleidocranial Dysplasia

Go to external page http://purl.bioontology.org/ontology/MESH/D002973

Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.

Instance info

Synonyms

Dysplasia, Cleidocranial, Cleidocranial Digital Dysostoses, Cleidocranial Digital Dysostosis, Marie-Sainton Syndrome, Dysplasias, Cleidocranial, Dysplasia cleidocranialis (DE), Scheuthauer-Marie-Sainton Syndrome, Cleidocranial Dysplasias, Scheuthauer Marie Sainton Syndrome, Dysostosis cleidocranialis (DE), Dysostosis, Cleidocranial Digital, Dysostoses, Cleidocranial Digital, Cleidocranial Dysostoses, Marie Sainton Syndrome, Dysostosis, Cleidocranial, Cleidocranial Dysostosis, Cleidocraniale Dysostose (DE), Dysostoses, Cleidocranial, Syndrome, Marie-Sainton, Syndrome, Scheuthauer-Marie-Sainton

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

19850101

HN

85; was CLEIDOCRANIAL DYSOSTOSIS 1963-84

MDA

19990101

MMR

20130708

MN

C05.660.207.207,C05.116.099.708.207,C16.131.621.207.207

OL

use CLEIDOCRANIAL DYSPLASIA to search CLEIDOCRANIAL DYSOSTOSIS l966-84

PM

85; was CLEIDOCRANIAL DYSOSTOSIS 1963-84

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D058165,http://purl.bioontology.org/ontology/MESH/D015831,http://purl.bioontology.org/ontology/MESH/D060048,http://purl.bioontology.org/ontology/MESH/D003394,http://purl.bioontology.org/ontology/MESH/D058627,http://purl.bioontology.org/ontology/MESH/D010026,http://purl.bioontology.org/ontology/MESH/D010985,http://purl.bioontology.org/ontology/MESH/D004613,http://purl.bioontology.org/ontology/MESH/D006957,http://purl.bioontology.org/ontology/MESH/D055947,http://purl.bioontology.org/ontology/MESH/D006958,http://purl.bioontology.org/ontology/MESH/D020083,http://purl.bioontology.org/ontology/MESH/D057767,http://purl.bioontology.org/ontology/MESH/D000130,http://purl.bioontology.org/ontology/MESH/D008831,http://purl.bioontology.org/ontology/MESH/D056731,http://purl.bioontology.org/ontology/MESH/D056730,http://purl.bioontology.org/ontology/MESH/D059041,http://purl.bioontology.org/ontology/MESH/D003966,http://purl.bioontology.org/ontology/MESH/D010013,http://purl.bioontology.org/ontology/MESH/D058631,http://purl.bioontology.org/ontology/MESH/D019767,http://purl.bioontology.org/ontology/MESH/D015826,http://purl.bioontology.org/ontology/MESH/D012779,http://purl.bioontology.org/ontology/MESH/D012415,http://purl.bioontology.org/ontology/MESH/D004687,http://purl.bioontology.org/ontology/MESH/D003398,http://purl.bioontology.org/ontology/MESH/D044542,http://purl.bioontology.org/ontology/MESH/D002806,http://purl.bioontology.org/ontology/MESH/D056685,http://purl.bioontology.org/ontology/MESH/D009634,http://purl.bioontology.org/ontology/MESH/D005357,http://purl.bioontology.org/ontology/MESH/D016142,http://purl.bioontology.org/ontology/MESH/D009958

TERMUI

T008589,T782686,T008590,T782687,T008591,T782688

TH

GHR (2014),ORD (2010),OMIM (2013),NLM (1966),UNK (19XX),NLM (2012)

cui

C0008928

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C566825,http://purl.bioontology.org/ontology/MESH/C563974,http://purl.bioontology.org/ontology/MESH/C566119,http://purl.bioontology.org/ontology/MESH/C565843,http://purl.bioontology.org/ontology/MESH/C536719

tui

T047

Instance relations

Types