loading...| Preferred Name | hepatolenticular degeneration | |
| Synonyms |
Gowers' chorea cerebral pseudosclerosis Kinnier-Wilson disease familial hepatitis neurohepatic degeneration hepatocerebral degeneration Westphal pseudosclerosis Westphal Strumpell disease Wilson's disease |
|
| 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. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-4349 |
|
| altLabel |
Gowers' chorea cerebral pseudosclerosis Kinnier-Wilson disease familial hepatitis neurohepatic degeneration hepatocerebral degeneration Westphal pseudosclerosis Westphal Strumpell disease Wilson's disease |
|
| cui |
C0019202 |
|
| definition |
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. |
|
| DID |
1849-4349 |
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| Inverse of RB | ||
| Inverse of RO | ||
| notation |
1849-4349 |
|
| prefLabel |
hepatolenticular degeneration |
|
| tui |
T047 |
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| subClassOf |