National Drug File - Reference Terminology

Last uploaded: July 6, 2018
Id http://purl.bioontology.org/ontology/NDFRT/N0000001510
http://purl.bioontology.org/ontology/NDFRT/N0000001510
Preferred Name

Hepatolenticular Degeneration [Disease/Finding]
Synonyms
Pseudosclerosis
Neurohepatic Degeneration
Cerebral Pseudosclerosis
Hepato-Neurologic Wilson Disease
Hepatocerebral Degeneration
Progressive Lenticular Degeneration
Hepatolenticular Degeneration
Kinnier-Wilson Disease
Wilson's Disease
Hepatolenticular Degeneration Syndrome
Westphal-Strumpell Syndrome
Copper Storage Disease
Wilson Disease
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Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
Pseudosclerosis
Neurohepatic Degeneration
Cerebral Pseudosclerosis
Hepato-Neurologic Wilson Disease
Hepatocerebral Degeneration
Progressive Lenticular Degeneration
Hepatolenticular Degeneration
Kinnier-Wilson Disease
Wilson's Disease
Hepatolenticular Degeneration Syndrome
Westphal-Strumpell Syndrome
Copper Storage Disease
Wilson Disease
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See less
prefLabel
Hepatolenticular Degeneration [Disease/Finding]
MESH DEFINITION
A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.
MESH DUI
D006527
MESH UI
M0010235
MeSH name
Hepatolenticular Degeneration
type
tui
T047
SNOMED CID
88518009
192640001
190823004
May be treated by
notation
N0000001510
Semantic type UMLS property
NUI
N0000001510
cui
C0019202
NDFRT kind
DISEASE_KIND
subClassOf
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