Preferred Name | Wilson disease | |
Synonyms |
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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. |
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ID |
http://purl.obolibrary.org/obo/OMIM_277900 |
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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. |
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has_obo_namespace |
cell_cycle_ontology |
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id |
OMIM:277900 |
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label |
Wilson disease |
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notation |
OMIM:277900 |
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prefLabel |
Wilson disease |
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treeView | ||
subClassOf |