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Campomelic Dysplasia

Go to external page http://purl.bioontology.org/ontology/MESH/D055036

A rarer variant of campomelic dysplasia. The characteristics match campomelic dysplasia except that long bone curvature is not present (acampomelia).

A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene.

Instance info

Synonyms

Sra1, Cmpd1, Campomelic Dysplasia, Acampomelic, Campomelic Dwarfisms, Campomelic Syndrome, Dysplasia, Campomelic, Sra1s, Cmpd1, Cmpd1 Sra1s, Campomelic Syndromes, Acampomelic Campomelic Dysplasias, Campomelic Dysplasias, Acampomelic, Akampomele kampomele Dysplasie (DE), Campomelic Dysplasias, Dysplasias, Campomelic, Syndromes, Campomelic, Camptomelic Dysplasias, Dysplasias, Camptomelic, Dysplasias, Acampomelic Campomelic, Acampomelic Campomelic Dysplasia, Dwarfism, Campomelic, Cmpd1 Sra1, Campomelic Dwarfism, Camptomelic Dysplasia, Dysplasia, Acampomelic Campomelic, Kampomele Dysplasie (DE), Dysplasia, Camptomelic, Dwarfisms, Campomelic, Syndrome, Campomelic

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

20090101

FX

D010855

HN

2009

MDA

20080708

MMR

20151020

MN

C16.131.621.142,C05.660.142

PM

2009

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,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/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,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/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,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/Q000662,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,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

RO

http://purl.bioontology.org/ontology/MESH/D010855

SIB

http://purl.bioontology.org/ontology/MESH/D055092,http://purl.bioontology.org/ontology/MESH/D005660,http://purl.bioontology.org/ontology/MESH/D066166,http://purl.bioontology.org/ontology/MESH/D031845,http://purl.bioontology.org/ontology/MESH/D006618,http://purl.bioontology.org/ontology/MESH/D001176,http://purl.bioontology.org/ontology/MESH/D002573,http://purl.bioontology.org/ontology/MESH/D019465,http://purl.bioontology.org/ontology/MESH/D017880,http://purl.bioontology.org/ontology/MESH/D055089,http://purl.bioontology.org/ontology/MESH/D013580,http://purl.bioontology.org/ontology/MESH/D020139,http://purl.bioontology.org/ontology/MESH/D007714

TERMUI

T841054,T704997,T841053,T000888246,T757368,T704996

TH

GHR (2014),NLM (2016),ORD (2010),OMIM (2013),NLM (2009),NLM (2011)

cui

C1861923,C1861922

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C535775,http://purl.bioontology.org/ontology/MESH/C564282,http://purl.bioontology.org/ontology/MESH/C537977,http://purl.bioontology.org/ontology/MESH/C537966,http://purl.bioontology.org/ontology/MESH/C537999,http://purl.bioontology.org/ontology/MESH/C565436

tui

T047

Instance relations

Types