Search Ontology:
Human Disease

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
(all 7)
Ontology
Human Disease   ( DOID:0111561 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models