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Standards Ontologies Notations
spondyloepiphyseal dysplasia with congenital joint dislocations

Summary
Synonym
  • CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
  • CHST3-Related Skeletal Dysplasia
  • Humero-spinal dysostosis with congenital heart disease
  • Kozlowski Celermajer Tink syndrome
  • Omani Type
  • Spondyloepiphyseal Dysplasia
  • humero-spinal dysostosis
  • humerospinal dysostosis
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.
Super Class
physical disorder spondyloepiphyseal dysplasia
External Links
Disease Ontology
DOID:0050813
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9469 CHST3 carbohydrate sulfotransferase 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
53374 Chst3 carbohydrate sulfotransferase 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
84468 Chst3 carbohydrate sulfotransferase 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
33913 CG9550 uncharacterized protein
Displaying all 2 entries
Gene ID Gene Symbol Description Source
556800 chst3b carbohydrate (chondroitin 6) sulfotransferase 3b
559721 chst3a carbohydrate (chondroitin 6) sulfotransferase 3a
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
100492673 chst3 carbohydrate (chondroitin 6) sulfotransferase 3 Xenopus tropicalis (tropical clawed frog)
108696269 chst3.L carbohydrate (chondroitin 6) sulfotransferase 3 L homeolog Xenopus laevis (African clawed frog)
108697511 chst3.S carbohydrate (chondroitin 6) sulfotransferase 3 S homeolog Xenopus laevis (African clawed frog)
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q7LGC8 Carbohydrate sulfotransferase 3
The Human Phenotype Ontology
Displaying entries 1 - 10 of 82 in total
HPO ID HPO Term
HP:0002967 Cubitus valgus
HP:0001552 Barrel-shaped chest
HP:0010585 Small epiphyses
HP:0000684 Delayed eruption of teeth
HP:0008905 Rhizomelia
HP:0002751 Kyphoscoliosis
HP:0000337 Broad forehead
HP:0003312 Abnormal form of the vertebral bodies
HP:0002553 Highly arched eyebrow
HP:0010049 Short metacarpal
Displaying 1 entry
Gene ID Gene Symbol Description
9469 CHST3 carbohydrate sulfotransferase 3
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024