Gene Expression Ontology

Last uploaded: December 16, 2015
Preferred Name

Wilson disease
Synonyms

WD

Definitions

(WD) - 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.

ID

http://identifiers.org/omim/277900

altLabel

WD

definition

(WD) - 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.

id

OMIM:277900

notation

OMIM:277900

prefLabel

Wilson disease

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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