FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Wilson disease ID (Ontology) DOID:893 (Human Disease)
Definition A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.
Also Known As "Cerebral pseudosclerosis" ; "hepatolenticular degeneration" ; "Westphal pseudosclerosis" (for all, see Synonyms field below)
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DO.org
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 Wilson disease       1      2      1
 for disease ribbon | Wilson disease       --       1       --
 model of | Wilson disease       1      1       --
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__metal metabolism disorder
       |__Wilson disease  4 rec.
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Is a metal metabolism disorder
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Synonyms
  • "Cerebral pseudosclerosis" EXACT
    "hepatolenticular degeneration" EXACT
    "Westphal pseudosclerosis" EXACT
    "Westphal-Strumpell syndrome" EXACT
    "Wilson's disease" EXACT
Secondary IDs
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GARD:7893
ICD10CM:E83.01
MESH:D006527
MIM:277900
NCI:C84756
SNOMEDCT_US_2023_03_01:88518009
UMLS_CUI:C0019202