stiff skin syndrome

Term ID

DOID:0111561

Synonyms

• 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

• GARD:5025
• MESH:C566112
• MIM:184900
• NCI:C118636
• ORDO:2833
• SNOMEDCT_US_2023_03_01:765187004
• UMLS_CUI:C1861456

Ontology

Human Disease   ( DOID:0111561 )