FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term craniosynostosis 7 ID (Ontology) DOID:0060912 (Human Disease)
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.
Also Known As "CRS7"
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 Genes
 craniosynostosis 7       1
 for disease ribbon | craniosynostosis 7       1
 model of | craniosynostosis 7       1
Spanning Tree (Parents/Children)
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polygenic disease
 |__digenic disease___
synostosis            |
 |__craniosynostosis__|
                      craniosynostosis 7  1 rec.
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Is a digenic disease
craniosynostosis
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Synonyms
  • "CRS7" EXACT OMO:0003012
Secondary IDs
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MIM:617439