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Metadata
ID	DOID:0111561
Name	stiff skin syndrome
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
Xrefs	GARD:5025 MESH:C566112 MIM:184900 NCI:C118636 ORDO:2833 SNOMEDCT_US_2023_03_01:765187004 UMLS_CUI:C1861456
Subsets	DO_rare_slim NCIthesaurus
Synonyms	SSKS [EXACT]
Parent Relationships	is_a skin disease is_a autosomal dominant disease