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DO Term : spondyloepiphyseal dysplasia with congenital joint dislocations [DOID:0050813] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
Omani Type,
Kozlowski Celermajer Tink syndrome,
CHST3-Related Skeletal Dysplasia,
Spondyloepiphyseal Dysplasia,
humerospinal dysostosis,
143095,
OMIM:143095,
humero-spinal dysostosis,
CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS,
Humero-spinal dysostosis with congenital heart disease

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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