Search Ontology:
Human Disease
stiff skin syndrome
- Term ID
- DOID:0111561
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/20375004
- References
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- GARD:5025
- MESH:C566112
- MIM:184900
- Ontology
- Human Disease ( DOID:0111561 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models