X-linked spondyloepiphyseal dysplasia tarda

Summary
Definition
A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22.
Super Class
X-linked recessive disease spinal disease spondyloepiphyseal dysplasia tarda
External Links
Disease Ontology
DOID:0080362
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
176 ACAN aggrecan
952 CD38 CD38 molecule
2720 GLB1 galactosidase beta 1
3339 HSPG2 heparan sulfate proteoglycan 2
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