| Metadata | |
|---|---|
| ID | DOID:0112365 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/10742114/ |
| Xrefs | |
| Synonyms |
autosomal recessive spondylocostal dysostosis 1 [EXACT] SCDO1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |