spondyloepimetaphyseal dysplasia, Sponastrime type

Summary
Synonym
  • Spondylar and nasal Alterations-Striated Metaphyses syndrome
  • sponastrime dysplasia
Definition
A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance.
Super Class
autosomal recessive disease spondyloepimetaphyseal dysplasia
Disease Ontology
DOID:5684
Mondo Disease Ontology
UMLS
NCI Thesaurus
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4796 TONSL tonsoku like, DNA repair protein

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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: December 9, 2024