Craniosynostosis 7
Disease ID: disease_node_13626
Connections displayed (default: 10).
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| Dbxref | MIM:617439 |
|---|---|
| Subclassof | DOID_0080578, DOID_2340 |
| Data Source | DOID |
| Synonyms | CRS7 |
| Doid Label | craniosynostosis 7 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000930 |
| Disease Node Id | disease_node_13626 |
| Doid Id | DOID_0060912 |
| Label | Craniosynostosis 7 |
- Outgoing r'ship
SUBCLASS_OFto/from Craniosynostoses(ID:disease_node_2298) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Digenic Disease(ID:disease_node_13627) (Disease)