Search Ontology:
Human Disease

spondyloepiphyseal dysplasia with congenital joint dislocations

Term ID
DOID:0050813
Synonyms
  • 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
(all 8)
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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