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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
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NES3 | Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000776 | Congenital diaphragmatic hernia |
| HP:0006655 | Rib segmentation abnormalities |
| HP:0000256 | Macrocephaly |
| HP:0002808 | Kyphosis |
| HP:0000047 | Hypospadias |
| HP:0004322 | Short stature |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0001537 | Umbilical hernia |
| HP:0000023 | Inguinal hernia |
