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

Disease Ontology Definition:A spondyloepimetaphyseal 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: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS, CHST3-Related Skeletal Dysplasia, Humero-spinal dysostosis with congenital heart disease, Humerospinal Dysostosis, Humerospinal dysostosis, Kozlowski Celermajer Tink syndrome, Omani Type, Spondyloepiphyseal Dysplasia,

Echinobase Genes :


OMIM:
MIM:143095 - spondyloepiphyseal dysplasia with congenital joint dislocations

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

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