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Saethre-Chotzen syndrome
Summary
- Definition
- An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
- Super Class
- acrocephalosyndactylia autosomal dominant disease
External Links
- Disease Ontology
- DOID:14768
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
