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Summary Literature (0)
DOID:0050813 - spondyloepiphyseal dysplasia with congenital joint dislocations

Disease Ontology Definition: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.

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

Xenbase Genes : chst3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007738 - metacarpophalangeal joint of manual digit 2

MIM:
MIM:143095 - SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): physical disorder (is_a), spondyloepimetaphyseal dysplasia (is_a), spondyloepiphyseal dysplasia (is_a)