spondyloepiphyseal dysplasia congenita

Summary
Synonym
  • Late Spondyloepiphyseal Dysplasia
Definition
A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
Super Class
autosomal dominant disease spondyloepiphyseal dysplasia
External Links
Disease Ontology
DOID:14789
Mondo Disease Ontology
MeSH
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
176 ACAN aggrecan
2720 GLB1 galactosidase beta 1
9469 CHST3 carbohydrate sulfotransferase 3
Related Glycoprotein

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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