OBO ID: DOID:0111561
Term Name: stiff skin syndrome Search Ontology:
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:
Ontology: Human Disease   ( DOID:0111561 )
Relationships
is a type of:
OTHER stiff skin syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FBN1 Stiff skin syndrome 184900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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