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
External Links
Disease Ontology
DOID:5684
Mondo Disease Ontology
UMLS
NCI Thesaurus
OMIM
Related Genes
Displaying all 10 entries
Gene ID Gene Symbol Description Source
1497 CTNS cystinosin, lysosomal cystine transporter
1595 CYP51A1 cytochrome P450 family 51 subfamily A member 1
1962 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
2878 GPX3 glutathione peroxidase 3
3482 IGF2R insulin like growth factor 2 receptor
4669 NAGLU N-acetyl-alpha-glucosaminidase
4952 OCRL OCRL inositol polyphosphate-5-phosphatase
6514 SLC2A2 solute carrier family 2 member 2
8875 VNN2 vanin 2
8876 VNN1 vanin 1

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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