{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0010200/OMIM:277900","label":"Wilson disease","mondoId":"MONDO:0010200","onsetQualifier":null,"recordKeys":["12b8ac238474e1f185bc7d184bcc412f12577fa4980d491cf4fd3dd6998dbf4c","1563c222b548cc918dbdfe5e925e2e5c8b6847d940afce5144d5c5e11ebcac90","15f0579b3be04c737e698835271877c37d774daa8b2a611d3dc40b35384669c6","16ccaa06bbf75018df73ed486a62c805bdd49771b208f93f82372761a4559fd3","18820d8f1b7fe5b0a521f5e5f9882111c79fa6dee78c17b369702da7e4fd87a4","1afc5f40e9680e7fb11d48f2d9125c5bf01c48d11173e768943671f4c99952af","1bdab9dcd7afc45582d18b777c6bf691b4be2f68b59e4795a494f91289368238","1c952b6f09e97c854a11d899e8ac4bbd519291c2d3c0bacb51f32399bf5f202b","1e6ede14a33d850e190305aea2d2b552f5d5fef544290beb1e3b917e6ed1a01a","1ee8028f05d34763b986e54af7c722f5303af62e1bfa88f3a39b2fec09415a01","26223b51d9732d27d9100b7835b91a5ea7dbc9f1822b66527c1f16937fd91bf0","286ea47a6cab2e952c3aefa96e7db18b954bf3c271455ad510cdcc87b0b59abb","29a8f9948f7217fa4d53619fda39921a9164aa5e19d7edea6daee90fcc75a5ae","2b972af01a24baad3287e5239bb4ff3b5e275c4a866acb339c3bd4ca8d31c412","321620b9ecd504fd1ca03a7f218f67fd31abeee3316e4a31810435d866246e87","3b7a431a18cd21f7957a82f5165c96115f8d5f9e76da0dcb9d882e6c447c4904","43f79792c65112501c85ba2ae8b26c3bf7f5d19eb9495d033ff1374543dbc664","440976f8f8b26d811d8669a8dc0b3bf7acd233be43a96582962f32d9708f272c","45a52541acdb6b831ecac408d4607ab299bbedef32244c215ad635d7ee76507c","480b47cfcdb0114839674fa410ec4059f6eedad4400744a37458b61eea44bac6","49cfaad33dd27027a5ec3ec624281b146c30ddecc387d9d1c0c25bfbcdc3e4f6","4cf4d59e3b76ab7677e2272bc9066ebea932820335dc4b211e6172f4e9d318fd","4fe4c3e9ca345f6c59bf937763d3597f61dcdded176edeee2d72fc93901376d5","5214392348c0add910c4c254ee52f49fcc3df45fa82a469ac5901a539c8da9ee","588d7bcbf4a4c39bfcc9b0f76a00938c2cdd1e4eff8aa8ada4adcb784a0b030c","5cec8edbaddcf8c89bc474b3b0e1cd7650f88f0bebd9c6c348bcc5963fe3092d","5f77506420d90b1f26d7fb1031efdc6e782808b04b486c10f02975e4f82ecadc","60a35e4e5b9ff9c2188346bd32f7f15f0613f2aa944bdf9ba8b07e183c430e01","61263e243444ac91429e51665d17c6a9c2289b514d8b45f66f32e2ad89c8ac4b","627f80d4b2447159723072e0819872aa56f8a71dc48490f4b85ddf56afe14990","63fd016d8591a5344e776dcac93fd27e7b7922eda3fd1445b45920d07ab5a8e9","68129a4e0f381cedda29bef8a5f096d9f3987a2ec680ac2ccfac0c55e678f3bf","6de88383a895123c7cdd4b6bf189b290ed5e273d114a819df9673515c995e24e","7132c69018d153378561616ceffb8f94bfd60f32c18ce3732a28387131d44289","71523b51e8a3df9cee7a371b1b2bb18e6d6b0c56fb5735572cdc04b3fa5b0d86","71827ba963ee68e917adf00bf69b7a1b816bb9e072925165200e41c84f0ce6af","77ad2ae1b18006b1c8fb121e7f3a8676fc36245d23b32cae1f84182f9008f167","7c65da47feba9b84c37e52ad12853fcfc41f307dc7a1859f363887dc8ef335fd","7dbf5a2e47aadbcdafc75e6deba9750aeded20d7b0680255a5fb1e44039619fa","86af4ba589c0755ae0a7c2de5be3ce99c8ed3d263486350589aac1269534e2a7","86caf1a49cdff76231829d7500c38f43727c4aa47844996d9203ad2d10e75c6c","8ac98834c756b3a498cf64538548bcab95af8cf2b017fa2736081505edd49940","96cda20c9a2774532a451f565fe6af776eb80a4e7ca4b99825f540c7e12b3fcb","9708cd139ead00efafe948b1ec677b9d32260be78b45eb73e69b39811003ca0f","9b65d1dcd5161e1b87a1598f93ce73b43ba801145951c52db67eee51936183e6","a1ff2d0d2f96cebdbc583538adca3d17467ed9116d00ed8d056766cb20cd0e1a","a4796fd7c62d555651ec28fa4ad271ab43f519e14b1eed8ffe7ceb4d9fe5e601","a7c3fb07a869aca9e151854b4ea82a87fee8df893066189cf3b422844ce298ea","aa6e88bab746281874b65a8dc1d8286c83a5ddd36c3453842dda6c23efb0aeb8","b101d5e1c8f951c3e739ca160e311b9c2244202d4d4f2fd0af8bef325b9b9281","bb7b89ab326c3d09695bf5c698ad7664f61ee44afedb5b0c7d2794c1de831e94","be33ff95da940b6036d2a34772a7c63b4b91baa8993040f1ebd4ac123597c6f4","bfd709bf086cfe2ad585d3b6964e46bd0b755b41308aada4e195ef061f326c21","c1dc95d8571f9c5588f667ee63d2151d5ce0fa27bfee96f685be5d6eee3b8956","c58bd79f9bc76eb51e4026a2d3812800d30fed0eac8c091729c1229670117978","cdb52ac570ad9a9a382ddd94742b9127ae531edcc4aee137b9de384c8b205f32","cf8d58da22bb488b2a317addf08a6923a4ab947fdf3c0cbbe5dc881ae24532a1","d2de7faa0a32e4d975f1be6bc43e5194bcc7c7f1a7e190ccb3a010933a47c360","dc1c49e22c9d63b99c3ac54af5f957c9e894d80c83243dccf584a533e4ee43cf","e07fc45ce38eec54f538d1c0772991b6d8d82e22ca266110620ebf9ae645c836","e3fdc5a311933e42837611e6b72c93f2c4c88c8befd1f01507b07b14494e417d","e81226db598ebde3ab8e513807dc9ff58f0def89b4c1be079dbd9b297d9401e1","e9c1f32fcdc04124119c65da09038fe52b3c78cdf0d0e95ae8172ab0d7b58d26","f09b60f6fd3d166b68820495dc7338a11e6f1d42b1223be48898eeab7a66bb3f","f11006ee07e6fbe07bbb7c7d7d7bf55f883360ac3148b83611e8319f07cd22f3","f24499cb84f1e68cc795891da0c38f32cc7d9304c67475c1b875b512e5e7391f","f7de0012c5835e301bfd9c31c842263a86483982c79af14631b9f2867292fcc6","fe7e41b25732f722d8ee37208145d46a146b8f57d354a6b9db1b791176d55aa2"],"recordQualifiers":{},"scopeLabel":"OMIM:277900","sourceIds":["OMIM:277900"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010200/ORPHA:905","label":"Wilson disease","mondoId":"MONDO:0010200","onsetQualifier":null,"recordKeys":["0015e16b6ae85139c9aa76277b1e388f9e87cfe5d5f62ca955ea4226d410cae9","01ee067ea6ac7e4b23da9d6ff402c6b68a5e11969952ac49a5845a333819c27a","0362df3dbad5e635bfdd216b55e3e9a2250f202d2bc3b349af57b3ac7c62af94","0a360c2203b5f0ae6ff9102d603ef3aded6a8b291163ea259d51949efcc87b12","0ef078d10eef11a0abdcc602cdb57602a188aa215333f0916f6e289cd040f215","1019a8ac623ca1ee12434d104a7fdf408837cfe51b866a890ff9a17fb1d69888","1aefde0b5c233324d5a217d00c2b5e2d0633036cffd2efbe1b3a454ee91c5237","2724dc633f6eb4bbc0a292b3500d9300a3cca4f856efc34b8aa4b7d5c7b06754","2b82839ec08ec3a8f52f832a3cd577c22701ace0f27af140209fd88d73b68457","349a460098c1494e3c03a9d6429b1bb316cab0595c1ac242f6cd8a3a6f91dca2","3756ec6f61462a9a157433351c0fcb18d7298702f2f845a81cbb0c30728570ab","3f356579c1874c065b8b230af9d58ea9270c019c08280ef2ecda2e28e59d6874","40f2f5ad058b96cc58eba22ae8a3f0ab6c575dcf6fb91b9d7817a2d46d8c2cc1","42834f3a7fb470b887acb14d6dddb33f63b5e9c77cd8964811b340ecc1155550","45225e7ffaeb131ab4ea03fe34ba12fa4c71449238493919070c4183da18eb35","482ca03245bcec79b4d4fe916f1669091d3c72959542252d08262a385b572400","4acbed83731b89cc3e67c39da19567e184f62ad1fe7e0e92a9e4843288b597ed","4b3d86c48a4af957bd1fd21d2146af398e8a4ce608f902a44a23d45caba0729f","607e519121be0ac80c70a863e9d98dc7fcb2c73c91af1159e9d69d7825fd96a4","7375a380c22341741a83897e42c747aff3c31a6713acb3b1d94de4ee4d54e32c","7950b387c5074c2788299b3655f2b9a7fb960f94bf0bd4d0ab6e3218ce05dd87","7f7197546ca6aad327b89eed1d5d84baf3632cbab7d2af8df1718b77406044cf","86e3d0d44a34835daefec430bfef20dd98d606fcd9934bf36bcaa9c0b2611383","88b68027cd1f2c6b6e8fb290ed4876ae5026559294d1b68b027690f2a549bcfe","8de7ca82e154fad675b5b8d74f3572ffca82628b559e085e6e3c51825810e75a","91314feab86923b712f576d2e78742fad8e1698278f7f2dd81b12d1aff3ce5a5","9245de4ad121dd39edf862b8253754dc5a74a09a650c56685a977d5c9bcd07cb","983ee3339ddc9181a72256323eeec2f9431284c49947165e3f156ea0b0eeb796","9f80deaa054982e1df7893b9a7645c4d0eebe91432d202eb60a7b0384d90fe96","ab084ced1db1796ac121ef3f1cc49336e06fe66213cd08d31c560cb0b7065deb","ab26a62c5e0da9f3e354b43221ab86d2c1b034ae823db53568b34e4d94eb14cb","af98738398165459df27bc58528756d8d303874aacb16f2bb8a94cd9a8ed2d73","b0a2f0e2eb5e08085474c98167700132708bd6af2e846c303cf4e05cafc37024","b0d604cca1441ff93b9d960d0ba70f2e6b838fbcd251711337fb1495e5e9d69e","b74388ef63f38a407d92d6d9a4769ec07861ea3beff739b38365b35b8c239760","b7b6bd94994021bef4d18ec837eafad7082415fd3df9bee2399c49782021dcef","ba971c40db8a9a69ec5732eef7db064815a58dd074d4504db03d52d5b24d0dec","bc2c868c1e304b02b9b4987a89a7c19ac52203b4617057fc545e8c228bfde980","c2651e3fedae0f141449e20f46dc75351eb4293c007efeb6972593278d8de4ba","c34e763a8531b5a7ba5ccdc7258583bab2517cd7baf7b413ecd453974abb2ed3","c5c9981544d315dc86ee1a033b3a155b7d282bd0cafee899616171a35f5dbdc3","c90133ccc6dec5d0bab3aaf51f43f196cc6abae3f79a8adf2290acdb4240f1ea","c95b691407d6c729ce1b39dbffad8078775d590d66a2d1d78bd1dd854c9596de","ca06e80d690245460323ed6db36c1a1e37163b7b14cfdf308f120c4d35c06498","cb9c40b2c424f0abf524c27036af2809c729dc7c7d01cb938486340d882f6f54","cd79fac1e392dd9782edd9530685f0cee83861959cc82e3149e248bcfb8abc2b","d521c619000cb23e95f48f6ad63192c65c36f6bebc3e0dca43041eabec9a350e","d67aad2da2d85acfa1a897c00527a590a7f55f197ac157e03e89c6ebc8c58cc8","dedb923a5f0dd9badd50dea02e96109b5ae6f787dbcd56548792912e8377d829","e4415208871cfb2e81d7dc78d83834e105fe9fa06789a1683ffc512bfff8bc63","eaa2805bfab241e51b7106e1f792137c764104fd4a6318ebc572e2be2f8dca35","eaa35900801086789de08cab5d885c0051ce452b6640f6517d44a23dcb8c39b8","f2dcac87987f51247c41b2f9bceeca582689d27816d3989cb3aa49a27b3fcfbf","f658998fdfbeb65c8e79ddc35e002bdb4cb9aece7a923abe79f5ff5cc38f7084","fadad5b9538dede4eee0d7da38e54a71ecf8e950d5a43aaddafc5459de2a36f4","fe4e07602d3792026a3bbbf77dabb09bdcdc40afe7344a2e6db6adace78fe6d4"],"recordQualifiers":{},"scopeLabel":"ORPHA:905","sourceIds":["ORPHA:905"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0010200/OMIM:277900","MONDO:0010200/ORPHA:905"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":42,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":124,"sourceGroups":{"omim":25,"orphanet":56,"published":43}},"features":[{"hpoId":"HP:0003270","label":"Abdominal distention","primary":false},{"hpoId":"HP:0002027","label":"Abdominal pain","primary":false},{"hpoId":"HP:0002071","label":"Abnormality of extrapyramidal motor function","primary":false},{"hpoId":"HP:0001155","label":"Abnormality of the hand","primary":false},{"hpoId":"HP:0000140","label":"Abnormality of the menstrual cycle","primary":false},{"hpoId":"HP:0006554","label":"Acute hepatic failure","primary":false},{"hpoId":"HP:0200119","label":"Acute hepatitis","primary":false},{"hpoId":"HP:0000718","label":"Aggressive behavior","primary":false},{"hpoId":"HP:0003355","label":"Aminoaciduria","primary":false},{"hpoId":"HP:5200321","label":"Amplification of sexual behavior","primary":false},{"hpoId":"HP:0001903","label":"Anemia","primary":false},{"hpoId":"HP:0000739","label":"Anxiety","primary":false},{"hpoId":"HP:0002829","label":"Arthralgia","primary":false},{"hpoId":"HP:0001369","label":"Arthritis","primary":false},{"hpoId":"HP:0001541","label":"Ascites","primary":false},{"hpoId":"HP:0200122","label":"Atypical or prolonged hepatitis","primary":false},{"hpoId":"HP:0003418","label":"Back pain","primary":false},{"hpoId":"HP:0002653","label":"Bone pain","primary":false},{"hpoId":"HP:0000978","label":"Bruising susceptibility","primary":false},{"hpoId":"HP:0000934","label":"Chondrocalcinosis","primary":false},{"hpoId":"HP:0002072","label":"Chorea (involuntary movements)","primary":false},{"hpoId":"HP:0001394","label":"Cirrhosis","primary":false},{"hpoId":"HP:0002312","label":"Clumsiness","primary":false},{"hpoId":"HP:0001259","label":"Coma","primary":false},{"hpoId":"HP:0010837","label":"Decreased circulating ceruloplasmin concentration","primary":false},{"hpoId":"HP:0000762","label":"Decreased nerve conduction velocity","primary":false},{"hpoId":"HP:0000726","label":"Dementia","primary":false},{"hpoId":"HP:0000716","label":"Depression","primary":false},{"hpoId":"HP:0002307","label":"Drooling","primary":false},{"hpoId":"HP:0001260","label":"Dysarthria","primary":false},{"hpoId":"HP:0002015","label":"Dysphagia","primary":false},{"hpoId":"HP:0001332","label":"Dystonia","primary":false},{"hpoId":"HP:0000969","label":"Edema","primary":false},{"hpoId":"HP:0031964","label":"Elevated circulating alanine aminotransferase concentration","primary":false},{"hpoId":"HP:0031956","label":"Elevated circulating aspartate aminotransferase concentration","primary":false},{"hpoId":"HP:0032254","label":"Elevated circulating copper concentration","primary":false},{"hpoId":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","primary":false},{"hpoId":"HP:0002040","label":"Esophageal varix","primary":false},{"hpoId":"HP:0003781","label":"Excessive salivation","primary":false},{"hpoId":"HP:0034254","label":"Face of the giant panda sign","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0012748","label":"Focal T2 hyperintense brainstem lesion","primary":false},{"hpoId":"HP:0001288","label":"Gait disturbance","primary":false},{"hpoId":"HP:0003076","label":"Glycosuria","primary":false},{"hpoId":"HP:0000738","label":"Hallucinations","primary":false},{"hpoId":"HP:0002378","label":"Hand tremor","primary":false},{"hpoId":"HP:0001878","label":"Hemolytic anemia","primary":false},{"hpoId":"HP:0001399","label":"Hepatic failure","primary":false},{"hpoId":"HP:0001397","label":"Hepatic steatosis","primary":false},{"hpoId":"HP:0012115","label":"Hepatitis","primary":false},{"hpoId":"HP:0001402","label":"Hepatocellular carcinoma","primary":false},{"hpoId":"HP:0002240","label":"Hepatomegaly","primary":false},{"hpoId":"HP:0010838","label":"High nonceruloplasmin-bound serum copper","primary":false},{"hpoId":"HP:0002904","label":"Hyperbilirubinemia","primary":false},{"hpoId":"HP:0002150","label":"Hypercalciuria","primary":false},{"hpoId":"HP:0003109","label":"Hyperphosphaturia","primary":false},{"hpoId":"HP:0003073","label":"Hypoalbuminemia","primary":false},{"hpoId":"HP:0033748","label":"Hypoesthesia","primary":false},{"hpoId":"HP:0002375","label":"Hypokinesia","primary":false},{"hpoId":"HP:0000829","label":"Hypoparathyroidism","primary":false},{"hpoId":"HP:0004409","label":"Hyposmia","primary":false},{"hpoId":"HP:0003537","label":"Hypouricemia","primary":false},{"hpoId":"HP:0002311","label":"Incoordination","primary":false},{"hpoId":"HP:0004324","label":"Increased body weight","primary":false},{"hpoId":"HP:0010839","label":"Increased urinary copper concentration","primary":false},{"hpoId":"HP:0000789","label":"Infertility","primary":false},{"hpoId":"HP:0100785","label":"Insomnia","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0000952","label":"Jaundice","primary":false},{"hpoId":"HP:0001382","label":"Joint hypermobility","primary":false},{"hpoId":"HP:0001386","label":"Joint swelling","primary":false},{"hpoId":"HP:0200032","label":"Kayser-Fleischer ring","primary":false},{"hpoId":"HP:0000787","label":"Kidney stone","primary":false},{"hpoId":"HP:0002451","label":"Limb dystonia","primary":false},{"hpoId":"HP:0003690","label":"Limb muscle weakness","primary":false},{"hpoId":"HP:0033834","label":"Malaise","primary":false},{"hpoId":"HP:0007327","label":"Mixed demyelinating and axonal polyneuropathy","primary":false},{"hpoId":"HP:0002758","label":"Osteoarthritis","primary":false},{"hpoId":"HP:0002749","label":"Osteomalacia","primary":false},{"hpoId":"HP:0000939","label":"Osteoporosis","primary":false},{"hpoId":"HP:0001733","label":"Pancreatitis","primary":false},{"hpoId":"HP:0002548","label":"Parkinsonism with favorable response to dopaminergic medication","primary":false},{"hpoId":"HP:0002756","label":"Pathologic fracture","primary":false},{"hpoId":"HP:0010741","label":"Pedal edema","primary":false},{"hpoId":"HP:0000751","label":"Personality changes","primary":false},{"hpoId":"HP:0001271","label":"Polyneuropathy","primary":false},{"hpoId":"HP:0006580","label":"Portal fibrosis","primary":false},{"hpoId":"HP:0000093","label":"Proteinuria","primary":false},{"hpoId":"HP:0008994","label":"Proximal lower limb muscle weakness","primary":false},{"hpoId":"HP:0000989","label":"Pruritus","primary":false},{"hpoId":"HP:0000709","label":"Psychosis","primary":false},{"hpoId":"HP:0000124","label":"Renal tubular dysfunction","primary":false},{"hpoId":"HP:0002063","label":"Muscle rigidity","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0001744","label":"Splenomegaly","primary":false},{"hpoId":"HP:6000642","label":"Sunflower cataract","primary":false},{"hpoId":"HP:0001873","label":"Thrombocytopenia","primary":false},{"hpoId":"HP:0001337","label":"Tremor","primary":false},{"hpoId":"HP:0002013","label":"Vomiting","primary":false},{"hpoId":"HP:0001824","label":"Weight loss","primary":false}],"ledeHtml":"Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.","mondoId":"MONDO:0010200","records":[{"frequencyKind":"range","key":"0015e16b6ae85139c9aa76277b1e388f9e87cfe5d5f62ca955ea4226d410cae9","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000140","is_excluded":false,"label":"Abnormality of the menstrual cycle","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"01ee067ea6ac7e4b23da9d6ff402c6b68a5e11969952ac49a5845a333819c27a","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0010837","is_excluded":false,"label":"Decreased circulating ceruloplasmin concentration","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0362df3dbad5e635bfdd216b55e3e9a2250f202d2bc3b349af57b3ac7c62af94","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001541","is_excluded":false,"label":"Ascites","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0a360c2203b5f0ae6ff9102d603ef3aded6a8b291163ea259d51949efcc87b12","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002653","is_excluded":false,"label":"Bone pain","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0ef078d10eef11a0abdcc602cdb57602a188aa215333f0916f6e289cd040f215","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001878","is_excluded":false,"label":"Hemolytic anemia","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1019a8ac623ca1ee12434d104a7fdf408837cfe51b866a890ff9a17fb1d69888","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002829","is_excluded":false,"label":"Arthralgia","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"12b8ac238474e1f185bc7d184bcc412f12577fa4980d491cf4fd3dd6998dbf4c","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001397","is_excluded":false,"label":"Hepatic steatosis","onset_id":null,"reference":"PMID:32532881","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1563c222b548cc918dbdfe5e925e2e5c8b6847d940afce5144d5c5e11ebcac90","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003537","is_excluded":false,"label":"Hypouricemia","onset_id":null,"reference":"PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"15f0579b3be04c737e698835271877c37d774daa8b2a611d3dc40b35384669c6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002548","is_excluded":false,"label":"Parkinsonism with favorable response to dopaminergic medication","onset_id":null,"reference":"PMID:31426520","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"16ccaa06bbf75018df73ed486a62c805bdd49771b208f93f82372761a4559fd3","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"PMID:35169583;PMID:32532881","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"18820d8f1b7fe5b0a521f5e5f9882111c79fa6dee78c17b369702da7e4fd87a4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002071","is_excluded":false,"label":"Abnormality of extrapyramidal motor function","onset_id":null,"reference":"PMID:34345444","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1aefde0b5c233324d5a217d00c2b5e2d0633036cffd2efbe1b3a454ee91c5237","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000718","is_excluded":false,"label":"Aggressive behavior","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1afc5f40e9680e7fb11d48f2d9125c5bf01c48d11173e768943671f4c99952af","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:6000642","is_excluded":false,"label":"Sunflower cataract","onset_id":null,"reference":"PMID:25609909","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1bdab9dcd7afc45582d18b777c6bf691b4be2f68b59e4795a494f91289368238","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"16/18","hpo_id":"HP:0031964","is_excluded":false,"label":"Elevated circulating alanine aminotransferase concentration","onset_id":null,"reference":"PMID:33265091;PMID:29914392;PMID:33879678;PMID:32532881;PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1c952b6f09e97c854a11d899e8ac4bbd519291c2d3c0bacb51f32399bf5f202b","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003076","is_excluded":false,"label":"Glycosuria","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1e6ede14a33d850e190305aea2d2b552f5d5fef544290beb1e3b917e6ed1a01a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0100785","is_excluded":false,"label":"Insomnia","onset_id":null,"reference":"PMID:29914392","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1ee8028f05d34763b986e54af7c722f5303af62e1bfa88f3a39b2fec09415a01","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002904","is_excluded":false,"label":"Hyperbilirubinemia","onset_id":null,"reference":"PMID:35169583;PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"26223b51d9732d27d9100b7835b91a5ea7dbc9f1822b66527c1f16937fd91bf0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0010741","is_excluded":false,"label":"Pedal edema","onset_id":null,"reference":"PMID:35169583;PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2724dc633f6eb4bbc0a292b3500d9300a3cca4f856efc34b8aa4b7d5c7b06754","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"286ea47a6cab2e952c3aefa96e7db18b954bf3c271455ad510cdcc87b0b59abb","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000969","is_excluded":false,"label":"Edema","onset_id":null,"reference":"PMID:29914392","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"29a8f9948f7217fa4d53619fda39921a9164aa5e19d7edea6daee90fcc75a5ae","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002378","is_excluded":false,"label":"Hand tremor","onset_id":null,"reference":"PMID:34345444","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2b82839ec08ec3a8f52f832a3cd577c22701ace0f27af140209fd88d73b68457","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001397","is_excluded":false,"label":"Hepatic steatosis","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2b972af01a24baad3287e5239bb4ff3b5e275c4a866acb339c3bd4ca8d31c412","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0032254","is_excluded":false,"label":"Elevated circulating copper concentration","onset_id":null,"reference":"PMID:32532881","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"321620b9ecd504fd1ca03a7f218f67fd31abeee3316e4a31810435d866246e87","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001402","is_excluded":false,"label":"Hepatocellular carcinoma","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"349a460098c1494e3c03a9d6429b1bb316cab0595c1ac242f6cd8a3a6f91dca2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001337","is_excluded":false,"label":"Tremor","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3756ec6f61462a9a157433351c0fcb18d7298702f2f845a81cbb0c30728570ab","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001733","is_excluded":false,"label":"Pancreatitis","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3b7a431a18cd21f7957a82f5165c96115f8d5f9e76da0dcb9d882e6c447c4904","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003355","is_excluded":false,"label":"Aminoaciduria","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3f356579c1874c065b8b230af9d58ea9270c019c08280ef2ecda2e28e59d6874","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000709","is_excluded":false,"label":"Psychosis","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"40f2f5ad058b96cc58eba22ae8a3f0ab6c575dcf6fb91b9d7817a2d46d8c2cc1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002312","is_excluded":false,"label":"Clumsiness","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"42834f3a7fb470b887acb14d6dddb33f63b5e9c77cd8964811b340ecc1155550","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"43f79792c65112501c85ba2ae8b26c3bf7f5d19eb9495d033ff1374543dbc664","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"440976f8f8b26d811d8669a8dc0b3bf7acd233be43a96582962f32d9708f272c","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"4/5","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"PMID:29914392;PMID:31426520;PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"45225e7ffaeb131ab4ea03fe34ba12fa4c71449238493919070c4183da18eb35","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001369","is_excluded":false,"label":"Arthritis","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"45a52541acdb6b831ecac408d4607ab299bbedef32244c215ad635d7ee76507c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002375","is_excluded":false,"label":"Hypokinesia","onset_id":null,"reference":"PMID:31426520","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"480b47cfcdb0114839674fa410ec4059f6eedad4400744a37458b61eea44bac6","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"9/17","hpo_id":"HP:0200032","is_excluded":false,"label":"Kayser-Fleischer ring","onset_id":null,"reference":"PMID:33265091;PMID:29914392;PMID:35169583;PMID:34345444;PMID:33879678;PMID:32532881;PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"482ca03245bcec79b4d4fe916f1669091d3c72959542252d08262a385b572400","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003355","is_excluded":false,"label":"Aminoaciduria","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"49cfaad33dd27027a5ec3ec624281b146c30ddecc387d9d1c0c25bfbcdc3e4f6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000751","is_excluded":false,"label":"Personality changes","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"4acbed83731b89cc3e67c39da19567e184f62ad1fe7e0e92a9e4843288b597ed","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4b3d86c48a4af957bd1fd21d2146af398e8a4ce608f902a44a23d45caba0729f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000739","is_excluded":false,"label":"Anxiety","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4cf4d59e3b76ab7677e2272bc9066ebea932820335dc4b211e6172f4e9d318fd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4fe4c3e9ca345f6c59bf937763d3597f61dcdded176edeee2d72fc93901376d5","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000829","is_excluded":false,"label":"Hypoparathyroidism","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5214392348c0add910c4c254ee52f49fcc3df45fa82a469ac5901a539c8da9ee","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0200122","is_excluded":false,"label":"Atypical or prolonged hepatitis","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"588d7bcbf4a4c39bfcc9b0f76a00938c2cdd1e4eff8aa8ada4adcb784a0b030c","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001873","is_excluded":false,"label":"Thrombocytopenia","onset_id":null,"reference":"PMID:31426520;PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5cec8edbaddcf8c89bc474b3b0e1cd7650f88f0bebd9c6c348bcc5963fe3092d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0033748","is_excluded":false,"label":"Hypoesthesia","onset_id":null,"reference":"PMID:29914392","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"5f77506420d90b1f26d7fb1031efdc6e782808b04b486c10f02975e4f82ecadc","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002040","is_excluded":false,"label":"Esophageal varix","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"607e519121be0ac80c70a863e9d98dc7fcb2c73c91af1159e9d69d7825fd96a4","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002013","is_excluded":false,"label":"Vomiting","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"60a35e4e5b9ff9c2188346bd32f7f15f0613f2aa944bdf9ba8b07e183c430e01","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000124","is_excluded":false,"label":"Renal tubular dysfunction","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"61263e243444ac91429e51665d17c6a9c2289b514d8b45f66f32e2ad89c8ac4b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000762","is_excluded":false,"label":"Decreased nerve conduction velocity","onset_id":null,"reference":"PMID:33265091","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"627f80d4b2447159723072e0819872aa56f8a71dc48490f4b85ddf56afe14990","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/14","hpo_id":"HP:0002307","is_excluded":false,"label":"Drooling","onset_id":"HP:0003621","reference":"PMID:33879678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"63fd016d8591a5344e776dcac93fd27e7b7922eda3fd1445b45920d07ab5a8e9","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"17/18","hpo_id":"HP:0031956","is_excluded":false,"label":"Elevated circulating aspartate aminotransferase concentration","onset_id":null,"reference":"PMID:33265091;PMID:29914392;PMID:33879678;PMID:32532881;PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"68129a4e0f381cedda29bef8a5f096d9f3987a2ec680ac2ccfac0c55e678f3bf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/14","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":"HP:0003621","reference":"PMID:33879678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6de88383a895123c7cdd4b6bf189b290ed5e273d114a819df9673515c995e24e","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0010839","is_excluded":false,"label":"Increased urinary copper concentration","onset_id":null,"reference":"PMID:29914392;PMID:35169583;PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"7132c69018d153378561616ceffb8f94bfd60f32c18ce3732a28387131d44289","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"71523b51e8a3df9cee7a371b1b2bb18e6d6b0c56fb5735572cdc04b3fa5b0d86","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0006580","is_excluded":false,"label":"Portal fibrosis","onset_id":null,"reference":"PMID:35169583","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"71827ba963ee68e917adf00bf69b7a1b816bb9e072925165200e41c84f0ce6af","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002150","is_excluded":false,"label":"Hypercalciuria","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7375a380c22341741a83897e42c747aff3c31a6713acb3b1d94de4ee4d54e32c","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000789","is_excluded":false,"label":"Infertility","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"77ad2ae1b18006b1c8fb121e7f3a8676fc36245d23b32cae1f84182f9008f167","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002063","is_excluded":false,"label":"Rigidity","onset_id":null,"reference":"PMID:31426520","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7950b387c5074c2788299b3655f2b9a7fb960f94bf0bd4d0ab6e3218ce05dd87","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012115","is_excluded":false,"label":"Hepatitis","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7c65da47feba9b84c37e52ad12853fcfc41f307dc7a1859f363887dc8ef335fd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000934","is_excluded":false,"label":"Chondrocalcinosis","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"7dbf5a2e47aadbcdafc75e6deba9750aeded20d7b0680255a5fb1e44039619fa","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0033834","is_excluded":false,"label":"Malaise","onset_id":null,"reference":"PMID:34345444","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7f7197546ca6aad327b89eed1d5d84baf3632cbab7d2af8df1718b77406044cf","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001824","is_excluded":false,"label":"Weight loss","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"86af4ba589c0755ae0a7c2de5be3ce99c8ed3d263486350589aac1269534e2a7","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001903","is_excluded":false,"label":"Anemia","onset_id":null,"reference":"PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"86caf1a49cdff76231829d7500c38f43727c4aa47844996d9203ad2d10e75c6c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":"HP:0040283","hpo_id":"HP:0001271","is_excluded":false,"label":"Polyneuropathy","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"86e3d0d44a34835daefec430bfef20dd98d606fcd9934bf36bcaa9c0b2611383","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"88b68027cd1f2c6b6e8fb290ed4876ae5026559294d1b68b027690f2a549bcfe","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000787","is_excluded":false,"label":"Kidney stone","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8ac98834c756b3a498cf64538548bcab95af8cf2b017fa2736081505edd49940","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002311","is_excluded":false,"label":"Incoordination","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8de7ca82e154fad675b5b8d74f3572ffca82628b559e085e6e3c51825810e75a","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0006554","is_excluded":false,"label":"Acute hepatic failure","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"91314feab86923b712f576d2e78742fad8e1698278f7f2dd81b12d1aff3ce5a5","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000829","is_excluded":false,"label":"Hypoparathyroidism","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9245de4ad121dd39edf862b8253754dc5a74a09a650c56685a977d5c9bcd07cb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"96cda20c9a2774532a451f565fe6af776eb80a4e7ca4b99825f540c7e12b3fcb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000726","is_excluded":false,"label":"Dementia","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"9708cd139ead00efafe948b1ec677b9d32260be78b45eb73e69b39811003ca0f","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003270","is_excluded":false,"label":"Abdominal distention","onset_id":null,"reference":"PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"983ee3339ddc9181a72256323eeec2f9431284c49947165e3f156ea0b0eeb796","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001394","is_excluded":false,"label":"Cirrhosis","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9b65d1dcd5161e1b87a1598f93ce73b43ba801145951c52db67eee51936183e6","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0001399","is_excluded":false,"label":"Hepatic failure","onset_id":null,"reference":"PMID:29914392;PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"9f80deaa054982e1df7893b9a7645c4d0eebe91432d202eb60a7b0384d90fe96","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000989","is_excluded":false,"label":"Pruritus","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a1ff2d0d2f96cebdbc583538adca3d17467ed9116d00ed8d056766cb20cd0e1a","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001394","is_excluded":false,"label":"Cirrhosis","onset_id":null,"reference":"PMID:32532881;PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a4796fd7c62d555651ec28fa4ad271ab43f519e14b1eed8ffe7ceb4d9fe5e601","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0002013","is_excluded":false,"label":"Vomiting","onset_id":null,"reference":"PMID:29914392","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a7c3fb07a869aca9e151854b4ea82a87fee8df893066189cf3b422844ce298ea","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002758","is_excluded":false,"label":"Osteoarthritis","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"aa6e88bab746281874b65a8dc1d8286c83a5ddd36c3453842dda6c23efb0aeb8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001337","is_excluded":false,"label":"Tremor","onset_id":null,"reference":"PMID:33265091;PMID:35169583;PMID:31426520","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ab084ced1db1796ac121ef3f1cc49336e06fe66213cd08d31c560cb0b7065deb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008994","is_excluded":false,"label":"Proximal lower limb muscle weakness","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ab26a62c5e0da9f3e354b43221ab86d2c1b034ae823db53568b34e4d94eb14cb","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0200119","is_excluded":false,"label":"Acute hepatitis","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"af98738398165459df27bc58528756d8d303874aacb16f2bb8a94cd9a8ed2d73","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:5200321","is_excluded":false,"label":"Amplification of sexual behavior","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b0a2f0e2eb5e08085474c98167700132708bd6af2e846c303cf4e05cafc37024","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000939","is_excluded":false,"label":"Osteoporosis","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b0d604cca1441ff93b9d960d0ba70f2e6b838fbcd251711337fb1495e5e9d69e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b101d5e1c8f951c3e739ca160e311b9c2244202d4d4f2fd0af8bef325b9b9281","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001259","is_excluded":false,"label":"Coma","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b74388ef63f38a407d92d6d9a4769ec07861ea3beff739b38365b35b8c239760","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100785","is_excluded":false,"label":"Insomnia","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b7b6bd94994021bef4d18ec837eafad7082415fd3df9bee2399c49782021dcef","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002072","is_excluded":false,"label":"Chorea","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ba971c40db8a9a69ec5732eef7db064815a58dd074d4504db03d52d5b24d0dec","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001873","is_excluded":false,"label":"Thrombocytopenia","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bb7b89ab326c3d09695bf5c698ad7664f61ee44afedb5b0c7d2794c1de831e94","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000093","is_excluded":false,"label":"Proteinuria","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"bc2c868c1e304b02b9b4987a89a7c19ac52203b4617057fc545e8c228bfde980","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000738","is_excluded":false,"label":"Hallucinations","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"be33ff95da940b6036d2a34772a7c63b4b91baa8993040f1ebd4ac123597c6f4","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001878","is_excluded":false,"label":"Hemolytic anemia","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"bfd709bf086cfe2ad585d3b6964e46bd0b755b41308aada4e195ef061f326c21","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007327","is_excluded":false,"label":"Mixed demyelinating and axonal polyneuropathy","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c1dc95d8571f9c5588f667ee63d2151d5ce0fa27bfee96f685be5d6eee3b8956","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003109","is_excluded":false,"label":"Hyperphosphaturia","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c2651e3fedae0f141449e20f46dc75351eb4293c007efeb6972593278d8de4ba","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002756","is_excluded":false,"label":"Pathologic fracture","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c34e763a8531b5a7ba5ccdc7258583bab2517cd7baf7b413ecd453974abb2ed3","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002910","is_excluded":false,"label":"Elevated circulating hepatic transaminase concentration","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c58bd79f9bc76eb51e4026a2d3812800d30fed0eac8c091729c1229670117978","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002451","is_excluded":false,"label":"Limb dystonia","onset_id":null,"reference":"PMID:31426520","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c5c9981544d315dc86ee1a033b3a155b7d282bd0cafee899616171a35f5dbdc3","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0200032","is_excluded":false,"label":"Kayser-Fleischer ring","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c90133ccc6dec5d0bab3aaf51f43f196cc6abae3f79a8adf2290acdb4240f1ea","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001386","is_excluded":false,"label":"Joint swelling","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c95b691407d6c729ce1b39dbffad8078775d590d66a2d1d78bd1dd854c9596de","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0004324","is_excluded":false,"label":"Increased body weight","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ca06e80d690245460323ed6db36c1a1e37163b7b14cfdf308f120c4d35c06498","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:6000642","is_excluded":false,"label":"Sunflower cataract","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cb9c40b2c424f0abf524c27036af2809c729dc7c7d01cb938486340d882f6f54","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000716","is_excluded":false,"label":"Depression","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cd79fac1e392dd9782edd9530685f0cee83861959cc82e3149e248bcfb8abc2b","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001903","is_excluded":false,"label":"Anemia","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"cdb52ac570ad9a9a382ddd94742b9127ae531edcc4aee137b9de384c8b205f32","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000787","is_excluded":false,"label":"Kidney stone","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"cf8d58da22bb488b2a317addf08a6923a4ab947fdf3c0cbbe5dc881ae24532a1","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0010838","is_excluded":false,"label":"High nonceruloplasmin-bound serum copper","onset_id":null,"reference":"PMID:29914392;PMID:35169583;PMID:31426520","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d2de7faa0a32e4d975f1be6bc43e5194bcc7c7f1a7e190ccb3a010933a47c360","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003690","is_excluded":false,"label":"Limb muscle weakness","onset_id":null,"reference":"PMID:33265091","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d521c619000cb23e95f48f6ad63192c65c36f6bebc3e0dca43041eabec9a350e","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000978","is_excluded":false,"label":"Bruising susceptibility","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d67aad2da2d85acfa1a897c00527a590a7f55f197ac157e03e89c6ebc8c58cc8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"dc1c49e22c9d63b99c3ac54af5f957c9e894d80c83243dccf584a533e4ee43cf","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"12/12","hpo_id":"HP:0010837","is_excluded":false,"label":"Decreased circulating ceruloplasmin concentration","onset_id":null,"reference":"PMID:33265091;PMID:29914392;PMID:35169583;PMID:34345444;PMID:33879678;PMID:32532881;PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"dedb923a5f0dd9badd50dea02e96109b5ae6f787dbcd56548792912e8377d829","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003418","is_excluded":false,"label":"Back pain","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e07fc45ce38eec54f538d1c0772991b6d8d82e22ca266110620ebf9ae645c836","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0003073","is_excluded":false,"label":"Hypoalbuminemia","onset_id":null,"reference":"PMID:35169583;PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e3fdc5a311933e42837611e6b72c93f2c4c88c8befd1f01507b07b14494e417d","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"PMID:32532881","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e4415208871cfb2e81d7dc78d83834e105fe9fa06789a1683ffc512bfff8bc63","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001288","is_excluded":false,"label":"Gait disturbance","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e81226db598ebde3ab8e513807dc9ff58f0def89b4c1be079dbd9b297d9401e1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0034254","is_excluded":false,"label":"Face of the giant panda sign","onset_id":null,"reference":"PMID:35169583","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e9c1f32fcdc04124119c65da09038fe52b3c78cdf0d0e95ae8172ab0d7b58d26","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/14","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":"HP:0003621","reference":"PMID:33879678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"eaa2805bfab241e51b7106e1f792137c764104fd4a6318ebc572e2be2f8dca35","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001155","is_excluded":false,"label":"Abnormality of the hand","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"eaa35900801086789de08cab5d885c0051ce452b6640f6517d44a23dcb8c39b8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000751","is_excluded":false,"label":"Personality changes","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f09b60f6fd3d166b68820495dc7338a11e6f1d42b1223be48898eeab7a66bb3f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002749","is_excluded":false,"label":"Osteomalacia","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f11006ee07e6fbe07bbb7c7d7d7bf55f883360ac3148b83611e8319f07cd22f3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004409","is_excluded":false,"label":"Hyposmia","onset_id":null,"reference":"PMID:31426520","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f24499cb84f1e68cc795891da0c38f32cc7d9304c67475c1b875b512e5e7391f","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001541","is_excluded":false,"label":"Ascites","onset_id":null,"reference":"PMID:33573009","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f2dcac87987f51247c41b2f9bceeca582689d27816d3989cb3aa49a27b3fcfbf","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003781","is_excluded":false,"label":"Excessive salivation","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f658998fdfbeb65c8e79ddc35e002bdb4cb9aece7a923abe79f5ff5cc38f7084","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002027","is_excluded":false,"label":"Abdominal pain","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f7de0012c5835e301bfd9c31c842263a86483982c79af14631b9f2867292fcc6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000939","is_excluded":false,"label":"Osteoporosis","onset_id":null,"reference":"OMIM:277900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fadad5b9538dede4eee0d7da38e54a71ecf8e950d5a43aaddafc5459de2a36f4","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fe4e07602d3792026a3bbbf77dabb09bdcdc40afe7344a2e6db6adace78fe6d4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:905","disease_name":"Wilson disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012748","is_excluded":false,"label":"Focal T2 hyperintense brainstem lesion","onset_id":null,"reference":"ORPHA:905","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fe7e41b25732f722d8ee37208145d46a146b8f57d354a6b9db1b791176d55aa2","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:277900","disease_name":"Wilson disease","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0006554","is_excluded":false,"label":"Acute hepatic failure","onset_id":null,"reference":"PMID:29914392","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/wilson-disease\">Wilson disease</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Wilson disease is caused by variants (also known as mutations) in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The copper-transporting ATPase 2 protein is particularly important for the elimination of excess copper from the body. Variants in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain.</p><p>Research indicates that a normal variation in the PRNP gene may modify the course of Wilson disease. The PRNP gene provides instructions for making prion protein, which is active in the brain and other tissues and appears to be involved in transporting copper. Studies have focused on the effects of a PRNP gene variation that affects position 129 of the prion protein. At this position, people can have either the protein building block (amino acid) methionine or the amino acid valine. Among people who have variants in the ATP7B gene, it appears that having methionine instead of valine at position 129 of the prion protein is associated with delayed onset of symptoms and an increased occurrence of neurological symptoms, particularly tremors. Larger studies are needed, however, before the effects of this PRNP gene variation on Wilson disease can be established.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/wilson-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Wilson disease?"},{"bodyHtml":"<p>Liver disease is typically the initial feature of Wilson disease in affected children and young adults; individuals diagnosed at an older age usually do not have symptoms of liver problems, although they may have very mild liver disease. The signs and symptoms of liver disease include yellowing of the skin or whites of the eyes (jaundice), fatigue, loss of appetite, and abdominal swelling.</p><p>Nervous system or psychiatric problems are often the initial features in individuals diagnosed in adulthood and commonly occur in young adults with Wilson disease. Signs and symptoms of these problems can include clumsiness, tremors, difficulty walking, speech problems, impaired thinking ability, depression, anxiety, and mood swings.</p><p>In many individuals with Wilson disease, copper deposits in the front surface of the eye (the cornea) form a green-to-brownish ring, called the Kayser-Fleischer ring, that surrounds the colored part of the eye. Abnormalities in eye movements, such as a restricted ability to gaze upwards, may also occur.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/wilson-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"wilson-disease","sourceDocuments":[{"name":"Wilson disease","reviewed":"2007-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:50.628346+00:00","label":"Causes","pageSha256":"ad5be88e9420d0e0c59b72c24b81dd51a0a2af32be9143984e9b3a019f427c68","sourceUrl":"https://medlineplus.gov/genetics/condition/wilson-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/wilson-disease"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Wilson disease"},"schemaVersion":1}