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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: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 |
