{"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:0010298/OMIM:300322","label":"Lesch-Nyhan syndrome","mondoId":"MONDO:0010298","onsetQualifier":null,"recordKeys":["2f8c5d8b9284fa9f20fc0672dddfdc22e8790630409ad550b1ffe339d283807c","377e81222239e8c1ab09710e182f7e7aab600898c99191b7b20fd0ac107e1509","416a4ce98ed8218742a3c8b296a68a1cb34383118fcebc5e3dd0b0e9e4228722","4289223208b657fdfc10faa74dbdd6b503ef93ab45a2730100986827cfa381ae","43a29b58684d16cf760151ded8a7dd50db9cea34caeb56fc29d3a5ab0cac9ac5","45134615ec3192aebae7c014925ee2ae2f3115a241f4eafb16ca1be2761178b9","60800a3a05359614d8332caf3f138f29cda2594a7d71ee2130e2e46003466cb9","6936c5928c5470dea2d0b260b09e55532cd97b58cde8d1f59b2c8a998966c50b","6a3c55ba68ca278bb25fa7e66e25edfc4d90e55738e4293538f3c14c29293e27","6dbe55acebf3ee71e8eb3c9f6b922e407f17f6fbfe31b3a8e6023f9369f32b84","77a97023ae22cae72bc621ba378c8d4263f77de586da6c0d7d6cc988c4edb390","7ecc083ec83688ac0f780c71ef2fc1113c3c88a666394915247ef080741bec4e","8281cda7bd58aed1c99f6d1b4d115664159f730551164d8f219825999d591307","981f801c1824f25753f3ee505544c2e049158be7a4b9fb3eafd64355f9ae1398","a2e9c2f5e0050b0b57a12ed38d3aa2949ced4edd45f903b74c2d3d9fcf0f87b7","a6146645c0dada59bb6d9c8138bc3a60beae20e7752c1223057b1e34f92479f7","a8f9936ae51e8b035479b0da71121e85ecd808cbb9dec4a9b28dc931e8efd2f6","ac153065556771477addc0de78a837a29a04eee8708219df6dcfd7ba7b70e3dc","ac6182ea31bb017eb37c2b0de310f987116e2910309df428ed144f1e617babce","b9cd6ccce6bfd9af2b704bfc41ab78652e067a5384e0f2e5600e17eb615b095e","c522092dd2d32b5f32f27209c3cf07481059561ffd7e72a1880e96a3bb0182a7","d539cfed8435d91b7c514f04c4f49d8f7c377ff4a403eeaa2b04dbbe0d0023aa","ed0d14b968f81e39c31254d8f325fe2a7308e53c8eb52f75e5e97495ec6e13f6","ef4683b56f85cffdf0ba69d47718f115d780142089f3f6286a5f69b8cf69c94c","f492cd1ccdbd94ee7518f139773c8b547d63765b9c45780ca26c025eb5e4d48d"],"recordQualifiers":{},"scopeLabel":"OMIM:300322","sourceIds":["OMIM:300322"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010642/OMIM:308950","label":"Lesch-Nyhan phenotype with normal hgprt","mondoId":"MONDO:0010642","onsetQualifier":null,"recordKeys":["0d953513ba8bab227eb39c715198d981ebe0777be793c0ec8b4fca0493cf1c48","164295c0f84c286275ed7d3563e74beaaa0ebf64f7c3a3fcf449a659c8d3a406","31c15cdeb4a1fe30410bb152f99ff934098ea0be70e6691608230d7b94ea523e","50af5d3e5a560363757ed6ca091f5088024846e7b5898341a63e4cc75e359718","c0a4b1e02888def891b9eaacf0ac4882d9bb13d22094cfb3e0e78ebc12e88af1"],"recordQualifiers":{},"scopeLabel":"OMIM:308950","sourceIds":["OMIM:308950"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010298/ORPHA:510","label":"Lesch-Nyhan syndrome","mondoId":"MONDO:0010298","onsetQualifier":null,"recordKeys":["2b64536854a8afd6e638fc9872ca7a4c43fe6af4e9c8a21755528ce150dcde6b","5a0fda98758a5f43b97e7a891e38cf3386f2e6c75993e6b80c1688e50b02f58f","64a8bb34f53e21d58e1f77de49692b39acc0da871bd2df4b9e7357171e7aa5c9","73b45ad2c255452ca3e075512bd822ba58455875950e8c700e1ac7d002cbb0ef","772db9f4d8d96549f0aa3fcd78145e9efeb4c35963427ddd02a07243fde10924","a028a1d395aa89533572f73dd04a8026f512d6e060069b2bb436bee0741b629e","b6bcd1b74145ec2d6123a69352068c2977ee9221c33b36214ccaf996599f576d","e537a307fce1744c07777dbafc2ec018f866f25e6916ad5fe3ace1ffe1409517","ef6f33e1a53c257d32ab78c69a7031ce012e98b24458b5fe25d28ab86cc6ae67","f923220eb97d8aeca23336694a79a7442f36edd03c0beb802da129463383be74","fb4b0f793bfc438f4c5d3a130c38798a4f23a864aa2ebd16c001fda3b2c4f1e8"],"recordQualifiers":{},"scopeLabel":"ORPHA:510","sourceIds":["ORPHA:510"],"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:0010298/OMIM:300322","MONDO:0010642/OMIM:308950","MONDO:0010298/ORPHA:510"],"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":9,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":41,"sourceGroups":{"omim":22,"orphanet":11,"published":8}},"features":[{"hpoId":"HP:0002071","label":"Abnormality of extrapyramidal motor function","primary":false},{"hpoId":"HP:0100022","label":"Abnormality of movement","primary":false},{"hpoId":"HP:0001903","label":"Anemia","primary":false},{"hpoId":"HP:0000708","label":"Atypical behavior","primary":false},{"hpoId":"HP:0001266","label":"Choreoathetosis","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:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001997","label":"Gout","primary":false},{"hpoId":"HP:0000790","label":"Hematuria","primary":false},{"hpoId":"HP:0004374","label":"Hemiplegia/hemiparesis","primary":false},{"hpoId":"HP:0002827","label":"Hip dislocation","primary":false},{"hpoId":"HP:0001347","label":"Hyperreflexia","primary":false},{"hpoId":"HP:0002149","label":"Hyperuricemia","primary":false},{"hpoId":"HP:0003149","label":"Hyperuricosuria","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0000787","label":"Kidney stone","primary":false},{"hpoId":"HP:0001889","label":"Megaloblastic anemia","primary":false},{"hpoId":"HP:0001256","label":"Mild intellectual disability","primary":false},{"hpoId":"HP:0002342","label":"Moderate intellectual disability","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0000121","label":"Nephrocalcinosis","primary":false},{"hpoId":"HP:0002179","label":"Opisthotonus","primary":false},{"hpoId":"HP:0001854","label":"Podagra","primary":false},{"hpoId":"HP:0002421","label":"Poor head control","primary":false},{"hpoId":"HP:0000083","label":"Renal insufficiency","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0100716","label":"Self-injurious behavior","primary":false},{"hpoId":"HP:0000742","label":"Self-mutilation","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0001257","label":"Spasticity","primary":false},{"hpoId":"HP:0000029","label":"Testicular atrophy","primary":false},{"hpoId":"HP:0002013","label":"Vomiting","primary":false}],"ledeHtml":"Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints). Uric acid accumulation can also cause kidney and bladder stones.","mondoId":"MONDO:0010298","records":[{"frequencyKind":"reported","key":"0d953513ba8bab227eb39c715198d981ebe0777be793c0ec8b4fca0493cf1c48","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:308950","disease_name":"Lesch-Nyhan phenotype with normal hgprt","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000742","is_excluded":false,"label":"Self-mutilation","onset_id":null,"reference":"OMIM:308950","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"164295c0f84c286275ed7d3563e74beaaa0ebf64f7c3a3fcf449a659c8d3a406","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:308950","disease_name":"Lesch-Nyhan phenotype with normal hgprt","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"OMIM:308950","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"2b64536854a8afd6e638fc9872ca7a4c43fe6af4e9c8a21755528ce150dcde6b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:510","disease_name":"Lesch-Nyhan syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001997","is_excluded":false,"label":"Gout","onset_id":null,"reference":"ORPHA:510","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2f8c5d8b9284fa9f20fc0672dddfdc22e8790630409ad550b1ffe339d283807c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"31c15cdeb4a1fe30410bb152f99ff934098ea0be70e6691608230d7b94ea523e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:308950","disease_name":"Lesch-Nyhan phenotype with normal hgprt","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001266","is_excluded":false,"label":"Choreoathetosis","onset_id":null,"reference":"OMIM:308950","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"377e81222239e8c1ab09710e182f7e7aab600898c99191b7b20fd0ac107e1509","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"416a4ce98ed8218742a3c8b296a68a1cb34383118fcebc5e3dd0b0e9e4228722","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"PCS","frequency_raw":"1/20","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"PMID:22157001","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4289223208b657fdfc10faa74dbdd6b503ef93ab45a2730100986827cfa381ae","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"43a29b58684d16cf760151ded8a7dd50db9cea34caeb56fc29d3a5ab0cac9ac5","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003149","is_excluded":false,"label":"Hyperuricosuria","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"45134615ec3192aebae7c014925ee2ae2f3115a241f4eafb16ca1be2761178b9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001266","is_excluded":false,"label":"Choreoathetosis","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"50af5d3e5a560363757ed6ca091f5088024846e7b5898341a63e4cc75e359718","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:308950","disease_name":"Lesch-Nyhan phenotype with normal hgprt","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002149","is_excluded":false,"label":"Hyperuricemia","onset_id":null,"reference":"OMIM:308950","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5a0fda98758a5f43b97e7a891e38cf3386f2e6c75993e6b80c1688e50b02f58f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:510","disease_name":"Lesch-Nyhan syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000708","is_excluded":false,"label":"Atypical behavior","onset_id":null,"reference":"ORPHA:510","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"60800a3a05359614d8332caf3f138f29cda2594a7d71ee2130e2e46003466cb9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"64a8bb34f53e21d58e1f77de49692b39acc0da871bd2df4b9e7357171e7aa5c9","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:510","disease_name":"Lesch-Nyhan syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000790","is_excluded":false,"label":"Hematuria","onset_id":null,"reference":"ORPHA:510","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"6936c5928c5470dea2d0b260b09e55532cd97b58cde8d1f59b2c8a998966c50b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"PCS","frequency_raw":"18/20","hpo_id":"HP:0100716","is_excluded":false,"label":"Self-injurious behavior","onset_id":null,"reference":"PMID:22157001","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6a3c55ba68ca278bb25fa7e66e25edfc4d90e55738e4293538f3c14c29293e27","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002421","is_excluded":false,"label":"Poor head control","onset_id":null,"reference":"PMID:35875183","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"6dbe55acebf3ee71e8eb3c9f6b922e407f17f6fbfe31b3a8e6023f9369f32b84","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"73b45ad2c255452ca3e075512bd822ba58455875950e8c700e1ac7d002cbb0ef","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:510","disease_name":"Lesch-Nyhan syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0004374","is_excluded":false,"label":"Hemiplegia/hemiparesis","onset_id":null,"reference":"ORPHA:510","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"772db9f4d8d96549f0aa3fcd78145e9efeb4c35963427ddd02a07243fde10924","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:510","disease_name":"Lesch-Nyhan syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100022","is_excluded":false,"label":"Abnormality of movement","onset_id":null,"reference":"ORPHA:510","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"77a97023ae22cae72bc621ba378c8d4263f77de586da6c0d7d6cc988c4edb390","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001889","is_excluded":false,"label":"Megaloblastic anemia","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7ecc083ec83688ac0f780c71ef2fc1113c3c88a666394915247ef080741bec4e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8281cda7bd58aed1c99f6d1b4d115664159f730551164d8f219825999d591307","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"PMID:35875183","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"981f801c1824f25753f3ee505544c2e049158be7a4b9fb3eafd64355f9ae1398","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"IEA","frequency_raw":"2/2","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a028a1d395aa89533572f73dd04a8026f512d6e060069b2bb436bee0741b629e","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:510","disease_name":"Lesch-Nyhan syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001903","is_excluded":false,"label":"Anemia","onset_id":null,"reference":"ORPHA:510","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a2e9c2f5e0050b0b57a12ed38d3aa2949ced4edd45f903b74c2d3d9fcf0f87b7","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"PCS","frequency_raw":"13/17","hpo_id":"HP:0000121","is_excluded":false,"label":"Nephrocalcinosis","onset_id":null,"reference":"PMID:22157001","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a6146645c0dada59bb6d9c8138bc3a60beae20e7752c1223057b1e34f92479f7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002071","is_excluded":false,"label":"Abnormality of extrapyramidal motor function","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a8f9936ae51e8b035479b0da71121e85ecd808cbb9dec4a9b28dc931e8efd2f6","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ac153065556771477addc0de78a837a29a04eee8708219df6dcfd7ba7b70e3dc","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001854","is_excluded":false,"label":"Podagra","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ac6182ea31bb017eb37c2b0de310f987116e2910309df428ed144f1e617babce","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002013","is_excluded":false,"label":"Vomiting","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b6bcd1b74145ec2d6123a69352068c2977ee9221c33b36214ccaf996599f576d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:510","disease_name":"Lesch-Nyhan syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001256","is_excluded":false,"label":"Mild intellectual disability","onset_id":null,"reference":"ORPHA:510","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b9cd6ccce6bfd9af2b704bfc41ab78652e067a5384e0f2e5600e17eb615b095e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"PCS","frequency_raw":"5/20","hpo_id":"HP:0002827","is_excluded":false,"label":"Hip dislocation","onset_id":null,"reference":"PMID:22157001","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c0a4b1e02888def891b9eaacf0ac4882d9bb13d22094cfb3e0e78ebc12e88af1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:308950","disease_name":"Lesch-Nyhan phenotype with normal hgprt","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:308950","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"c522092dd2d32b5f32f27209c3cf07481059561ffd7e72a1880e96a3bb0182a7","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002149","is_excluded":false,"label":"Hyperuricemia","onset_id":null,"reference":"PMID:35875183","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d539cfed8435d91b7c514f04c4f49d8f7c377ff4a403eeaa2b04dbbe0d0023aa","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"PCS","frequency_raw":"23/23","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:35875183;PMID:22157001","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e537a307fce1744c07777dbafc2ec018f866f25e6916ad5fe3ace1ffe1409517","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:510","disease_name":"Lesch-Nyhan syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002149","is_excluded":false,"label":"Hyperuricemia","onset_id":null,"reference":"ORPHA:510","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ed0d14b968f81e39c31254d8f325fe2a7308e53c8eb52f75e5e97495ec6e13f6","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000029","is_excluded":false,"label":"Testicular atrophy","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ef4683b56f85cffdf0ba69d47718f115d780142089f3f6286a5f69b8cf69c94c","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000787","is_excluded":false,"label":"Kidney stone","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ef6f33e1a53c257d32ab78c69a7031ce012e98b24458b5fe25d28ab86cc6ae67","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:510","disease_name":"Lesch-Nyhan syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000083","is_excluded":false,"label":"Renal insufficiency","onset_id":null,"reference":"ORPHA:510","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f492cd1ccdbd94ee7518f139773c8b547d63765b9c45780ca26c025eb5e4d48d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300322","disease_name":"Lesch-Nyhan syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002179","is_excluded":false,"label":"Opisthotonus","onset_id":null,"reference":"OMIM:300322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f923220eb97d8aeca23336694a79a7442f36edd03c0beb802da129463383be74","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:510","disease_name":"Lesch-Nyhan syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002342","is_excluded":false,"label":"Moderate intellectual disability","onset_id":null,"reference":"ORPHA:510","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fb4b0f793bfc438f4c5d3a130c38798a4f23a864aa2ebd16c001fda3b2c4f1e8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:510","disease_name":"Lesch-Nyhan syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"ORPHA:510","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome\">Lesch-Nyhan syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the HPRT1 gene cause Lesch-Nyhan syndrome. The HPRT1 gene provides instructions for making an enzyme called hypoxanthine-guanine phosphoribosyltransferase (HGprt). This enzyme recycles purines, which are building blocks of DNA and its chemical cousin RNA. Recycling purines ensures that cells have a plentiful supply of building blocks for the production of DNA and RNA. Purines also play an important role in providing energy for cells.</p><p>The pathogenic variants in the HPRT1 gene that cause Lesch-Nyhan syndrome can severely reduce the amount of functional HGprt enzymes in cells or prevent cells from making this enzyme at all. Without HGprt, cells cannot recycle purines, so the purines are broken down. During this process, uric acid builds up in the body, resulting in gouty arthritis.</p><p>People with Lesch-Nyhan syndrome also have low levels of a chemical messenger in the brain called dopamine. Dopamine transmits messages that help the brain control physical movement and emotional behavior. It is likely that dopamine-producing cells need purines to function. When the supply of purines is low, dopamine-producing cells do not function well and dopamine levels decrease. This shortage of dopamine may play a role in the movement problems and other features seen in people with Lesch-Nyhan syndrome.</p><p>Although researchers understand some of the biological processes behind the development of Lesch-Nyhan syndrome, the exact cause of the neurological signs and symptoms of this condition is unclear.</p><p>Some people have pathogenic variants in the HPRT1 gene that allow cells to produce some functional HGprt enzymes. These individuals are said to have Lesch-Nyhan variant or partial HPRT1 deficiency. The signs and symptoms of Lesch-Nyhan variant are often milder than those of Lesch-Nyhan syndrome. People with Lesch-Nyhan variant often have high uric acid levels and may have neurological problems, but they do not injure themselves. Because Lesch-Nyhan syndrome and Lesch-Nyhan variant are caused by pathogenic variants in the same gene, they are sometimes considered to be part of the same disease spectrum.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Lesch-Nyhan syndrome?"},{"bodyHtml":"<p>The nervous system and behavioral disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Self-injury (including biting and head banging) is the most common and distinctive behavioral problem in individuals with Lesch-Nyhan syndrome.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"lesch-nyhan-syndrome","sourceDocuments":[{"name":"Lesch-Nyhan syndrome","reviewed":"2007-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:54.354511+00:00","label":"Causes","pageSha256":"dc21295ca6c2766ac03c02fe7d69b3cfcfa0491c2e38e4b8fce4a16b8ea8a182","sourceUrl":"https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome"}],"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":"Lesch-Nyhan syndrome"},"schemaVersion":1}