FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term stiff skin syndrome ID (Ontology) DOID:0111561 (Human Disease)
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.
Also Known As "SSKS"
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DO.org
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 Genes
 stiff skin syndrome       2
 for disease ribbon | stiff skin syndrome       2
 model of | stiff skin syndrome       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
integumentary system disease    |
 |__skin disease________________|
                                stiff skin syndrome  2 rec.
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Is a autosomal dominant disease
skin disease
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Synonyms
  • "SSKS" EXACT OMO:0003012
Secondary IDs
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GARD:5025
MESH:C566112
MIM:184900
NCI:C118636
ORDO:2833
SNOMEDCT_US_2023_03_01:765187004
UMLS_CUI:C1861456