Search Ontology:
Human Disease
spondyloepiphyseal dysplasia with congenital joint dislocations
- Term ID
- DOID:0050813
- Synonyms
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- CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
- CHST3-Related Skeletal Dysplasia
- humero-spinal dysostosis
- Humero-spinal dysostosis with congenital heart disease
- humerospinal dysostosis
- Kozlowski Celermajer Tink syndrome
- Omani Type
- Spondyloepiphyseal Dysplasia
- 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. http://www.uniprot.org/diseases/DI-01753
- References
- Ontology
- Human Disease ( DOID:0050813 )
- is a type of
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Genes Involved
Zebrafish Models