OBO ID: DOID:0050813
Term Name: spondyloepiphyseal dysplasia with congenital joint dislocations Search Ontology:
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
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 spondyloepiphyseal dysplasia with congenital joint dislocations PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations 143095
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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