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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
spondylocostal dysostosis 3
Summary
- Synonym
-
- SCDO3
- autosomal recessive spondylocostal dysostosis 3
- Definition
- A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3.
- Super Class
- autosomal recessive disease spondylocostal dysostosis
External Links
- Disease Ontology
- DOID:0112361
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 397855 | lfng.S | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase S homeolog | Xenopus laevis (African clawed frog) | |
| 549805 | lfng | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Xenopus tropicalis (tropical clawed frog) | |
| 100036937 | lfng.L | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase L homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NES3 | Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0000337 | Broad forehead |
| HP:0010772 | Anomalous pulmonary venous return |
| HP:0001249 | Intellectual disability |
| HP:0100589 | Urogenital fistula |
| HP:0000470 | Short neck |
| HP:0005280 | Depressed nasal bridge |
| HP:0000175 | Cleft palate |
| HP:0002435 | Meningocele |
| HP:0000008 | Abnormal morphology of female internal genitalia |
