Statements in which the resource exists as a subject.
PredicateObject
rdf:type
calbc:hasCorrelation
skos:exactMatch
skos:definition
MSH: 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.,CSP: 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.,MEDLINEPLUS: <p>Wilson disease is a rare inherited disorder that causes your body to retain copper. Nor
skos:inScheme
skos:broader
skos:narrower
skos-xl:prefLabel
skos-xl:altLabel
umls-label:A0067577, umls-label:A15661640, umls-label:A17700814, umls-label:A18062781, umls-label:A0418646, umls-label:A11973721, umls-label:A0421091, umls-label:A15662696, umls-label:A8352504, umls-label:A0480805, umls-label:A18629016, umls-label:A0480804, umls-label:A0405882, umls-label:A17966864, umls-label:A0105599, umls-label:A0427684, umls-label:A0045952, umls-label:A0430168, umls-label:A17990923, umls-label:A0107237, umls-label:A15661344, umls-label:A17697876, umls-label:A17918996, umls-label:A0134030, umls-label:A18647663, umls-label:A0471353, umls-label:A12002552, umls-label:A18684688, umls-label:A17683468, umls-label:A17990925, umls-label:A0134031, umls-label:A0134032, umls-label:A8256354, umls-label:A8353030, umls-label:A0471813, umls-label:A18666233, umls-label:A18573214, umls-label:A18629015, umls-label:A18591887, umls-label:A18554774, umls-label:A0471259, umls-label:A17894676, umls-label:A1639847, umls-label:A8257194, umls-label:A1639846, umls-label:A1639848, umls-label:A1639849, umls-label:A18807217, umls-label:A18807218, umls-label:A18062784, umls-label:A1656042, umls-label:A1656041, umls-label:A1933956, umls-label:A17990920, umls-label:A1642751, umls-label:A18554773, umls-label:A8256871, umls-label:A1642750, umls-label:A1642752, umls-label:A1642749, umls-label:A17894680, umls-label:A1642769, umls-label:A8256966, umls-label:A1642768, umls-label:A1642770, umls-label:A1642767, umls-label:A18062782, umls-label:A1643471, umls-label:A8256769, umls-label:A1643470, umls-label:A1926042, umls-label:A1956832, umls-label:A0954250, umls-label:A11930758, umls-label:A1304751, umls-label:A8256666, umls-label:A1306323, umls-label:A1308845, umls-label:A1623432
More...