FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Sweeney-Cox syndrome ID (Ontology) DOID:0080538 (Human Disease)
Definition A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.
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 Genes
 Sweeney-Cox syndrome       1
 for disease ribbon | Sweeney-Cox syndrome       1
 model of | Sweeney-Cox syndrome       1
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Sweeney-Cox syndrome  1 rec.
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Is a autosomal dominant disease
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MIM:617746