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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:0000902 | Rib fusion |
| HP:0010306 | Short thorax |
| HP:0000269 | Prominent occiput |
| HP:0003298 | Spina bifida occulta |
| HP:0000069 | Abnormality of the ureter |
| HP:0002093 | Respiratory insufficiency |
| HP:0005108 | Abnormal intervertebral disk morphology |
| HP:0000463 | Anteverted nares |
| HP:0003577 | Congenital onset |
| HP:0004598 | Supernumerary vertebral ossification centers |
