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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:0002650 | Scoliosis |
| HP:0000252 | Microcephaly |
| HP:0006101 | Finger syndactyly |
| HP:0000772 | Abnormal rib morphology |
| HP:0010978 | Abnormality of immune system physiology |
| HP:0000343 | Long philtrum |
| HP:0003422 | Vertebral segmentation defect |
| HP:0000028 | Cryptorchidism |
| HP:0001511 | Intrauterine growth retardation |
| HP:0100490 | Camptodactyly of finger |
