Visualize Submit Comment
Metadata
ID DOID:893
Name Wilson 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.
https://pubmed.ncbi.nlm.nih.gov/32279718/, https://www.genome.gov/Genetic-Disorders/Wilson-Disease
Xrefs

GARD:7893

ICD10CM:E83.01

MESH:D006527

MIM:277900

NCI:C84756

SNOMEDCT_US_2023_03_01:88518009

UMLS_CUI:C0019202

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Cerebral pseudosclerosis [EXACT]

hepatolenticular degeneration [EXACT]

Westphal pseudosclerosis [EXACT]

Westphal-Strumpell syndrome [EXACT]

Wilson's disease [EXACT]

Parent Relationships

is_a metal metabolism disorder

Add an item to the term tracker