{"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:0018153/ORPHA:35687","label":"Erdheim-Chester disease","mondoId":"MONDO:0018153","onsetQualifier":null,"recordKeys":["068797bccc504a11a5dd40994705f475a4f4e755f6258b1ac178c55c9723d0cf","09b850f8197b75c21dc06de87283cdd107e64c355f13dd94038928545637ca10","0b38cdf412d147b721e741a5a439a7b3f9a6815fb695fd8f3cd968ac40fecedd","0d9b1920b3cc65e9df03bfdbf3436a9e3910c8072d7de57e76e42582a52beca0","257521676f428e03fd46de7c33fa058f793996cc3f034904838c5aca83bfee17","27f7b1ee1f3889bbd5f727de2403171e442e1bf0f83e6ed2347d3bf14e18925e","3a9f9d3c5af5014130a7154dfd2433043dd2f091b08a6988f8367e8198765c69","46fed4b5563b7837fb344bf0f14ba42407f3dd5dd145bf5c4828be99f0c81b78","4fbacc98c7576b556992b78fc28128e15ea521ba8c3de1a15e39a6abce702523","5583427bb88fb70356fd1de1d63ea0b144334e03da04b357b960f4c6add9f7b0","55c9b90b2c7d24a52ca018c270f4401054dcb699c62f1971a2c8a9e6b8dd3a03","680fddcd5161b0328ea2d83ddb28d9c87f7de811b833f4e4e7a19833887ae4ca","71b2b9bd2aa87d36bf10a5bba96edd2d838793d1d7b639c567264b3fcecbd0ba","8af3f9180eb6c8eee604de3a0b4184d2c0bc80af3f5ccf581991bcbc3e5ee125","95b0a4fb88cb0e6dd89c112f4f54e8fe14c4b9ea52753872e1a21ed6bd3223db","9c8ccb97b43207b8bfbc83b93653d11092806f066e0c7fd804f38211763367a2","9d13d7fdd96a629753740ce3fdd8030a86725f663ef9daba3b16441b1c5751b9","a431e06a8e224a3b792b1880aca47d8f9a72528763af76a9d068b628c924f219","a61290c47f5d506b3accb520bf46b999dd8c7250aa886678c96f5162b3332c89","a8a03969bfd65fc1d6f8a0da069b97a6a9ac2d1a572163e890e2331df516b9fa","a9ed3f5defffec2b0e81edac82c3fa3585e1c6b521b3c2ddcb5fcaedbbdfb233","aa7fa120a5f2ec9c1a39b25031da98d137231a0a738c35216c58bfc28bccfd65","ab2d3b0d957bb94c4d61f72c91d67d58c1d44784e4526d28eea0ef4b7cc6efc8","abd74d59768f00e68d1160ce97bc2d3ea3275474af5d0645c012bad178327f69","acfc62581aa47cb764f145fd4d61a828fd505b9bc34466ece9de20be8f93d712","b21fb56d40efbbde953b62dc8f60c1a2501cacc9f4a8da9cc04fb8a5ef31a1bf","b3c44f2777290587c7a91567bbb8367b88db2b5fde27eeca77b24b982675622b","b517cf9f54f8e44ba9711333d0a51d6d5afbbc5f6b0471682d3ba59a9209b120","b526eb42838b5002bb502c31e088a3d836e4d76b1ce2d0b5a0500a4ac8125147","c163ef23d5fe3c714ca7f84423b82718db84ae7eb3bcb22234f3cd19c7af4764","c739c8be4821c433aa84636e457a0f24e2eee01c02bc3f43e31a28798d913583","c9c1f42ec7bb3b4f911052e4f1c8d9c4af6db7f2612f04505bed4e3ff3bbf113","ca899293624c0467f49ecb1f9fc419291e2a12b5de02d4864385cbec12e8d29e","cb9cfe931014279e1a1264ac55fa05467ee663b7e472a4726656e863a71319c5","d72c61ac173ed4d2db6b07287e679e266c6e89cee5400f7501e47391726fe69a","e994e68dac66e7445feb440b8daeae0c7e93fd32cd4b5d2bbcc2f0c6deecb960","ea61ff48ed9309d1e67de6ad445abea9a0275639c92ab806e514ab52d41e3ad2","eb26f79721435e9883990ebdec12a93fce7304d23a68c2810660939ad143501c","fad4e51b76377d1f9a10e36adb27e8064f3591058be875220b671f9c159e5e55","fc9975586669886324472f98b8e078bd54bc3fd93cca5cec73cfa905f1c7413a","ff9bdaa0d78bf6aafb99acdd820be6dccc1a1d1489f84caf62debb4957edf9df"],"recordQualifiers":{},"scopeLabel":"ORPHA:35687","sourceIds":["ORPHA:35687"],"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:0018153/ORPHA:35687"],"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":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":41,"sourceGroups":{"omim":0,"orphanet":41,"published":0}},"features":[{"hpoId":"HP:0002027","label":"Abdominal pain","primary":false},{"hpoId":"HP:0001646","label":"Abnormal aortic valve morphology","primary":false},{"hpoId":"HP:0001317","label":"Abnormal cerebellum morphology","primary":false},{"hpoId":"HP:0005930","label":"Abnormal epiphysis morphology","primary":false},{"hpoId":"HP:0000944","label":"Abnormal metaphysis morphology","primary":false},{"hpoId":"HP:0001697","label":"Abnormal pericardium morphology","primary":false},{"hpoId":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","primary":false},{"hpoId":"HP:0010978","label":"Abnormality of immune system physiology","primary":false},{"hpoId":"HP:0001903","label":"Anemia","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0010885","label":"Avascular necrosis","primary":false},{"hpoId":"HP:0002653","label":"Bone pain","primary":false},{"hpoId":"HP:0001635","label":"Congestive heart failure","primary":false},{"hpoId":"HP:0012735","label":"Cough","primary":false},{"hpoId":"HP:0000873","label":"Diabetes insipidus","primary":false},{"hpoId":"HP:0001260","label":"Dysarthria","primary":false},{"hpoId":"HP:0002094","label":"Dyspnea","primary":false},{"hpoId":"HP:0100518","label":"Dysuria","primary":false},{"hpoId":"HP:0012378","label":"Fatigue","primary":false},{"hpoId":"HP:0001945","label":"Fever","primary":false},{"hpoId":"HP:0000126","label":"Hydronephrosis","primary":false},{"hpoId":"HP:0000975","label":"Hyperhidrosis","primary":false},{"hpoId":"HP:0001347","label":"Hyperreflexia","primary":false},{"hpoId":"HP:0000044","label":"Hypogonadotropic hypogonadism","primary":false},{"hpoId":"HP:0011001","label":"Increased bone mineral density","primary":false},{"hpoId":"HP:0001386","label":"Joint swelling","primary":false},{"hpoId":"HP:0002017","label":"Nausea and vomiting","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0002797","label":"Osteolysis","primary":false},{"hpoId":"HP:0002754","label":"Osteomyelitis","primary":false},{"hpoId":"HP:0002202","label":"Pleural effusion","primary":false},{"hpoId":"HP:0001959","label":"Polydipsia","primary":false},{"hpoId":"HP:0000520","label":"Proptosis","primary":false},{"hpoId":"HP:0000508","label":"Ptosis","primary":false},{"hpoId":"HP:0002206","label":"Pulmonary fibrosis","primary":false},{"hpoId":"HP:0000083","label":"Renal insufficiency","primary":false},{"hpoId":"HP:0005200","label":"Retroperitoneal fibrosis","primary":false},{"hpoId":"HP:0000988","label":"Skin rash","primary":false},{"hpoId":"HP:0000505","label":"Visual impairment","primary":false},{"hpoId":"HP:0001824","label":"Weight loss","primary":false},{"hpoId":"HP:0001114","label":"Xanthelasma","primary":false}],"ledeHtml":"Erdheim-Chester disease is a rare type of slow-growing blood cancer called a histiocytic neoplasm, which results in overproduction of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. In Erdheim-Chester disease, the excess production of histiocytes (histiocytosis) leads to inflammation that can damage organs and tissues throughout the body, causing them to become thickened, dense, and scarred (fibrotic); this tissue damage may lead to organ failure.","mondoId":"MONDO:0018153","records":[{"frequencyKind":"range","key":"068797bccc504a11a5dd40994705f475a4f4e755f6258b1ac178c55c9723d0cf","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001824","is_excluded":false,"label":"Weight loss","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"09b850f8197b75c21dc06de87283cdd107e64c355f13dd94038928545637ca10","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001646","is_excluded":false,"label":"Abnormal aortic valve morphology","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0b38cdf412d147b721e741a5a439a7b3f9a6815fb695fd8f3cd968ac40fecedd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0d9b1920b3cc65e9df03bfdbf3436a9e3910c8072d7de57e76e42582a52beca0","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005200","is_excluded":false,"label":"Retroperitoneal fibrosis","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"257521676f428e03fd46de7c33fa058f793996cc3f034904838c5aca83bfee17","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002206","is_excluded":false,"label":"Pulmonary fibrosis","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"27f7b1ee1f3889bbd5f727de2403171e442e1bf0f83e6ed2347d3bf14e18925e","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002027","is_excluded":false,"label":"Abdominal pain","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3a9f9d3c5af5014130a7154dfd2433043dd2f091b08a6988f8367e8198765c69","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000126","is_excluded":false,"label":"Hydronephrosis","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"46fed4b5563b7837fb344bf0f14ba42407f3dd5dd145bf5c4828be99f0c81b78","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000508","is_excluded":false,"label":"Ptosis","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4fbacc98c7576b556992b78fc28128e15ea521ba8c3de1a15e39a6abce702523","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001697","is_excluded":false,"label":"Abnormal pericardium morphology","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5583427bb88fb70356fd1de1d63ea0b144334e03da04b357b960f4c6add9f7b0","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000505","is_excluded":false,"label":"Visual impairment","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"55c9b90b2c7d24a52ca018c270f4401054dcb699c62f1971a2c8a9e6b8dd3a03","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000975","is_excluded":false,"label":"Hyperhidrosis","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"680fddcd5161b0328ea2d83ddb28d9c87f7de811b833f4e4e7a19833887ae4ca","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001317","is_excluded":false,"label":"Abnormal cerebellum morphology","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"71b2b9bd2aa87d36bf10a5bba96edd2d838793d1d7b639c567264b3fcecbd0ba","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011001","is_excluded":false,"label":"Increased bone mineral density","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8af3f9180eb6c8eee604de3a0b4184d2c0bc80af3f5ccf581991bcbc3e5ee125","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002017","is_excluded":false,"label":"Nausea and vomiting","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"95b0a4fb88cb0e6dd89c112f4f54e8fe14c4b9ea52753872e1a21ed6bd3223db","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000873","is_excluded":false,"label":"Diabetes insipidus","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9c8ccb97b43207b8bfbc83b93653d11092806f066e0c7fd804f38211763367a2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001386","is_excluded":false,"label":"Joint swelling","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9d13d7fdd96a629753740ce3fdd8030a86725f663ef9daba3b16441b1c5751b9","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000520","is_excluded":false,"label":"Proptosis","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a431e06a8e224a3b792b1880aca47d8f9a72528763af76a9d068b628c924f219","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001903","is_excluded":false,"label":"Anemia","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a61290c47f5d506b3accb520bf46b999dd8c7250aa886678c96f5162b3332c89","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012378","is_excluded":false,"label":"Fatigue","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a8a03969bfd65fc1d6f8a0da069b97a6a9ac2d1a572163e890e2331df516b9fa","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005930","is_excluded":false,"label":"Abnormal epiphysis morphology","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a9ed3f5defffec2b0e81edac82c3fa3585e1c6b521b3c2ddcb5fcaedbbdfb233","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001114","is_excluded":false,"label":"Xanthelasma","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"aa7fa120a5f2ec9c1a39b25031da98d137231a0a738c35216c58bfc28bccfd65","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002797","is_excluded":false,"label":"Osteolysis","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ab2d3b0d957bb94c4d61f72c91d67d58c1d44784e4526d28eea0ef4b7cc6efc8","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012735","is_excluded":false,"label":"Cough","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"abd74d59768f00e68d1160ce97bc2d3ea3275474af5d0645c012bad178327f69","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"acfc62581aa47cb764f145fd4d61a828fd505b9bc34466ece9de20be8f93d712","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001635","is_excluded":false,"label":"Congestive heart failure","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b21fb56d40efbbde953b62dc8f60c1a2501cacc9f4a8da9cc04fb8a5ef31a1bf","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001945","is_excluded":false,"label":"Fever","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b3c44f2777290587c7a91567bbb8367b88db2b5fde27eeca77b24b982675622b","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000083","is_excluded":false,"label":"Renal insufficiency","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b517cf9f54f8e44ba9711333d0a51d6d5afbbc5f6b0471682d3ba59a9209b120","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002202","is_excluded":false,"label":"Pleural effusion","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b526eb42838b5002bb502c31e088a3d836e4d76b1ce2d0b5a0500a4ac8125147","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000044","is_excluded":false,"label":"Hypogonadotropic hypogonadism","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c163ef23d5fe3c714ca7f84423b82718db84ae7eb3bcb22234f3cd19c7af4764","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002094","is_excluded":false,"label":"Dyspnea","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c739c8be4821c433aa84636e457a0f24e2eee01c02bc3f43e31a28798d913583","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006530","is_excluded":false,"label":"Abnormal pulmonary interstitial morphology","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c9c1f42ec7bb3b4f911052e4f1c8d9c4af6db7f2612f04505bed4e3ff3bbf113","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ca899293624c0467f49ecb1f9fc419291e2a12b5de02d4864385cbec12e8d29e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010885","is_excluded":false,"label":"Avascular necrosis","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cb9cfe931014279e1a1264ac55fa05467ee663b7e472a4726656e863a71319c5","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010978","is_excluded":false,"label":"Abnormality of immune system physiology","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d72c61ac173ed4d2db6b07287e679e266c6e89cee5400f7501e47391726fe69a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002754","is_excluded":false,"label":"Osteomyelitis","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e994e68dac66e7445feb440b8daeae0c7e93fd32cd4b5d2bbcc2f0c6deecb960","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002653","is_excluded":false,"label":"Bone pain","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ea61ff48ed9309d1e67de6ad445abea9a0275639c92ab806e514ab52d41e3ad2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000944","is_excluded":false,"label":"Abnormal metaphysis morphology","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"eb26f79721435e9883990ebdec12a93fce7304d23a68c2810660939ad143501c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fad4e51b76377d1f9a10e36adb27e8064f3591058be875220b671f9c159e5e55","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000988","is_excluded":false,"label":"Skin rash","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fc9975586669886324472f98b8e078bd54bc3fd93cca5cec73cfa905f1c7413a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001959","is_excluded":false,"label":"Polydipsia","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ff9bdaa0d78bf6aafb99acdd820be6dccc1a1d1489f84caf62debb4957edf9df","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:35687","disease_name":"Erdheim-Chester disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100518","is_excluded":false,"label":"Dysuria","onset_id":null,"reference":"ORPHA:35687","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/erdheim-chester-disease\">Erdheim-Chester 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>More than half of people with Erdheim-Chester disease have a specific mutation in the BRAF gene. Mutations in other genes are also thought to be involved in this disorder.</p><p>The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell&#x27;s nucleus. This protein is part of a signaling pathway known as the RAS/MAPK pathway, which controls several important cell functions. Specifically, the RAS/MAPK pathway regulates the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis).</p><p>The BRAF gene mutation that causes Erdheim-Chester disease is somatic, which means that it occurs during a person&#x27;s lifetime and is present only in certain cells. The mutation occurs in histiocytes or in immature precursor cells that will develop into histiocytes. This mutation leads to production of a BRAF protein that is abnormally active, which disrupts regulation of cell growth and division. The unregulated overproduction of histiocytes results in their accumulation in the body&#x27;s tissues and organs, leading to the signs and symptoms of Erdheim-Chester disease.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/erdheim-chester-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Erdheim-Chester disease?"},{"bodyHtml":"<p>People with Erdheim-Chester disease often have bone pain, especially in the lower legs and upper arms, due to an abnormal increase in bone density (osteosclerosis). Damage to the pituitary gland (a structure at the base of the brain that produces several hormones, including a hormone that controls the amount of water released in the urine) may result in hormonal problems such as a condition called diabetes insipidus that leads to excessive urination. Abnormally high pressure of the cerebrospinal fluid within the skull (intracranial hypertension) caused by accumulation of histiocytes in the brain may result in headaches, seizures, cognitive impairment, or problems with movement or sensation. People with this condition can also have shortness of breath, heart or kidney disease, protruding eyes (exophthalmos), skin growths, or inability to conceive a child (infertility). Affected individuals may also experience fever, night sweats, fatigue, weakness, and weight loss.</p><p>The signs and symptoms of Erdheim-Chester disease usually appear between the ages of 40 and 60, although the disorder can occur at any age. The severity of the condition varies widely; some affected individuals have few or no associated health problems, while others have severe complications that can be life-threatening.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/erdheim-chester-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"erdheim-chester-disease","sourceDocuments":[{"name":"Erdheim-Chester disease","reviewed":"2015-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:13.956784+00:00","label":"Causes","pageSha256":"d25469f307abd153e6b8847b6e31aa97ec3d73eb4993085c92de15202bf7cff4","sourceUrl":"https://medlineplus.gov/genetics/condition/erdheim-chester-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/erdheim-chester-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":"Erdheim-Chester disease"},"schemaVersion":1}