spondyloepiphyseal dysplasia with congenital joint dislocations

spondyloepiphyseal dysplasia with congenital joint dislocations

http://purl.obolibrary.org/obo/DOID_0050813

A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. [ url:http://www.uniprot.org/diseases/DI-01753 http://purl.obolibrary.org/obo/ECO_0007636 ]

Synonyms: Spondyloepiphyseal Dysplasia Kozlowski Celermajer Tink syndrome CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS humero-spinal dysostosis Omani Type CHST3-Related Skeletal Dysplasia humerospinal dysostosis Humero-spinal dysostosis with congenital heart disease

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database cross reference

MIM:143095

created by

lschriml

creation date

2013-12-04T01:30:01Z

has obo namespace

disease_ontology

DOID:0050813

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Subclass of:

spondyloepiphyseal dysplasia
physical disorder
disease has basis in some Abnormality of prenatal development or birth
disease has location some skeletal joint