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

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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