Id http://purl.bioontology.org/ontology/CSP/1849-4349
http://purl.bioontology.org/ontology/CSP/1849-4349
Preferred Name

hepatolenticular degeneration

Definitions
rare autosomal recessive disease characterized by the deposition of copper in the brain, liver, cornea and other organs; clinical features include liver cirrhosis, liver failure, splenomegaly, tremor, bradykinesia, dysarthria, chorea, muscle rigidity, Kayser-Fleischer rings (pigmented corneal lesions), ataxia and intellectual deterioration; hepatic dysfunction may precede neurologic dysfunction by several years.
Synonyms
Gowers' chorea
cerebral pseudosclerosis
Kinnier-Wilson disease
familial hepatitis
neurohepatic degeneration
hepatocerebral degeneration
Westphal pseudosclerosis
Westphal Strumpell disease
Wilson's disease
Type http://www.w3.org/2002/07/owl#Class
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