| Metadata | |
|---|---|
| ID | DOID:0061010 |
| Name | craniosynostosis 1 |
| Definition | A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. https://pubmed.ncbi.nlm.nih.gov/23438589/ |
| Xrefs | |
| Synonyms |
CRS1 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a craniosynostosis |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |