| Metadata | |
|---|---|
| ID | DOID:0112364 |
| Name | spondylocostal dysostosis 4 |
| Definition | A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1. https://pubmed.ncbi.nlm.nih.gov/18775957/ |
| Xrefs | |
| Synonyms |
autosomal recessive spondylocostal dysostosis 4 [EXACT] SCDO4 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |