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Wilson disease

Disease Summary
Associated Targets (27)
Tbio

15

Tchem

9

Tclin

3


GARD Rare
Mondo Description Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
Uniprot Description An autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis.
Mondo Term and Equivalent IDs
MONDO:0010200:  Wilson disease
GARD:0007893: 
MESH:D006527: 
NCIT:C84756: 
Orphanet:905: 
SCTID:88518009: 
UMLS:C0019202: