| Metadata | |
|---|---|
| ID | DOID:0060912 |
| Name | craniosynostosis 7 |
| Definition | A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. https://pubmed.ncbi.nlm.nih.gov/23438589/ |
| Xrefs | |
| Synonyms |
CRS7 [EXACT] |
| Parent Relationships |
is_a craniosynostosis is_a digenic disease |
| Subclass Logical Relationships |
has material basis in some digenic inheritance |