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Metadata
ID DOID:0050813
Name spondyloepiphyseal dysplasia with congenital joint dislocations
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.
http://omim.org/entry/143095?search=143095&highlight=143095, http://www.informatics.jax.org/disease/143095, http://www.ncbi.nlm.nih.gov/gtr/conditions/C1840471/, http://www.uniprot.org/diseases/DI-01753
Xrefs

OMIM:143095

Synonyms

CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS [EXACT]

CHST3-Related Skeletal Dysplasia [EXACT]

Humero-spinal dysostosis with congenital heart disease [EXACT]

Humerospinal Dysostosis [EXACT]

Humerospinal dysostosis [EXACT]

Kozlowski Celermajer Tink syndrome [EXACT]

Omani Type [EXACT]

Spondyloepiphyseal Dysplasia [EXACT]

Parent Relationships

is_a spondyloepimetaphyseal dysplasia

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