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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
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60931 | Cystinosin | |
| O95497 | Pantetheinase | |
| O95498 | Pantetheine hydrolase VNN2 | |
| P11168 | Solute carrier family 2, facilitated glucose transporter member 2 | |
| P11717 | Cation-independent mannose-6-phosphate receptor | |
| P54802 | Alpha-N-acetylglucosaminidase | |
| Q01968 | Inositol polyphosphate 5-phosphatase OCRL |
