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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: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 |
