Term Name: stiff skin syndrome
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.
Ontology: Human Disease [DOID:0111561]   ( DOID:0111561 )

Relationships
is a type of: autosomal dominant disease skin disease