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Disease Ontology Browser
stiff skin syndrome (DOID:0111561)
Alliance: disease page
Synonyms: SSKS
Alt IDs: OMIM:184900, MESH:C566112, NCI:C118636, ORDO:2833, UMLS_CUI:C1861456
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 FBN1 on chromosome 15q21.1.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
07/29/2020
MGI 6.15
The Jackson Laboratory