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spondylocostal dysostosis 1
Summary
- Synonym
-
- SCDO1
- autosomal recessive spondylocostal dysostosis 1
- Definition
- A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2.
- Super Class
- autosomal recessive disease spondylocostal dysostosis
External Links
- Disease Ontology
- DOID:0112365
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
- 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 |
