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DOID:0060912 - craniosynostosis 7
Disease Ontology 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.
Synonyms: CRS7
Xenbase Genes
:
smad6,
smad6.2
| MIM:617439 - CRANIOSYNOSTOSIS 7; CRS7 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
craniosynostosis (is_a),
digenic disease (is_a)