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stiff skin syndrome
Summary
- Synonym
-
- SSKS
- Definition
- A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1.
- Super Class
- autosomal dominant disease skin disease
External Links
- Disease Ontology
- DOID:0111561
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
