{"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:0008523/OMIM:186580","label":"Blau syndrome","mondoId":"MONDO:0008523","onsetQualifier":null,"recordKeys":["049c7acfefca2a2139fc9887f0da620c2522d360f72172f5bdc7d355f3c79321","0f37513aff23a26db0ea69b5353ebc14670c33bf23494f5c7278a2242cdd0e4e","1761cdee4c48efdc6c67600a58da57749e4b50334ff03150e8e0413634624a76","1792238d57b57a6c0d9927395d13fd60c70e4a82436a792972ffbb16d804a057","25acb2066dd6e6c9b351adea6e568335f7c81fea75746f202a7e52ad8617748e","329b13e3e733490fdc89970b12986b1056958f40720eb08ca95a686f6ad333d5","32be0d6675cdd1e0a1f04b8623e9fc18f4fd9353c8f250469578e6d8fc84f193","346b04fbb38b15c6ed0f2bf4a9dd870da9cbd123899e217768a4e6a3104826b3","350d087156bcadccfa938cac4a2bf84bbd6e08b2b3484fdcf678a2da922936be","3a826b4d39e138c37c25cd21b396790c75c4d87833e87548d588e7d38887ed8b","4b17a7d60707e8ce3e79f8613527186ff2580e709e5293e00a8cd30501559136","521b9dfc27f46a0530be598177e62dc44f7b6151de9620a8282fb9847007e176","76d21b48e80aecb9e1ccd1de938fc4bec4e138a106b9c2b16db2612790adf4d7","7cebf5524130aa22c77af1e09e7b168ca0bcc4d8cda1da994184808581f65a3d","9d10d73461c80f801616ce8945ed3f43edb686fe6e6357fb21acf159cad9fa60","af0307bb4a56002f115946dd82955f79760611651edd71391c8f33f3f2aaa37f","b615ce86cde42462fd6d06041bf14d41d6458d802c87ab860d9e6c2e67a90c73","bd7b108f6ae198ddfdd4aba7b556341514d22d707595f2b80243efcc35892cd5","df6069db1db1d70ba495a43d56bcf37d8f22ff3184f3afe97337d51b1f5c3215","f94da068267b78a3eee1ba3f7f75427e155e07987a7a031e2f0046cb3afb63e4","fb9181291e70f0d8c058ceddeff87e27ecea489b1975a3e953b9a046fb0a190d"],"recordQualifiers":{},"scopeLabel":"OMIM:186580","sourceIds":["OMIM:186580"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0008523/ORPHA:90340","label":"Blau syndrome","mondoId":"MONDO:0008523","onsetQualifier":null,"recordKeys":["0fc0043d95b3ab97627b7b9e7c246a708c652548a9bebc14b0712e87606a55d2","178d76b28af213eeefd49fbbcaa0c3b090fbd5d1e32922b7d5e99b164c9a3756","1833803f3e48cdb90773115f0b1384c98e3382557fa2eb46e6ce18499efb0256","217ed2e728b148f14a9690fb41504c46fb8b77297cec2679023565ba56c972ae","238aa2db7ec82751a897c8b3b407aa55dc9e306c6616d218a802b0eaa97b7514","255f59cb25631bd5f156ff88a39e689ec606cb4bfa39e3bebbe48772b2622cc9","354e4787ed7dcba75945528551392f4e6b51b9763317fbace05bf3200189c35f","37393a442f98b777300d928bf1e815ffcef0bb8fef4ebf80289b4c2298bda560","37bad16f4c57ee8f48508ff23445129aed26124d9913a4da948ccb468086f8e3","3c7760e23c5c56caeae9d5af697ab7321add4f0d857e9d4eb89bdc09434fdfec","46136067ab2ad5ecf91e54fc0fe9aef196da630417787c83c21ef5cf6459f4bf","4e2ca7e3192bc672d9582dce8e8348ff01f5e468754e768c6dae3aa44c7c2f16","506a9b9173a90878ac17e63c153492f2b44a6b7a54f89c9d6380fea86cccdbc5","552793617296b2ec868ba5b5fb1bf997b8388e78182ad9bdfb58d3c3264ab1eb","55c5f17d6453d4f4817bdb9e79fbb16384c56013ac7483ba0d1cace492cf74cf","6209068b79ac1bb67e99efb297d44bd08f01510cb6e74a220435a4ffac7f9916","6217289ebceda64b59162d2eb800b7ef367c2ffbbb6786adc89d06512e23fa3b","63995f244b6262d4e911ec209be327aba2cf61e40530ca517139eda33d89548a","640c58695e34c41a6ab02425ed5bcf785d9e25b68caf6a462b4fc053ade321c1","6a13dca27d1df0d03c24bc6d5110417a40b79733c713c552c5194225972cf6b5","6db7ebc294b8fb02ef72b2a3982be8f83c78398e73cd7745d033e845279f0d68","712b20bfc45b0f2c2bd38e459d42999b307507a3d6b800b4a243a2d4f013e8d1","738db164d6377bf490f8416d3ee806253f1645e98ce2cb1214fe90dcb6ed146c","7ce6f88a8ca517318410af011435bfcaf40f614bc1789a2b5354d02e090a885b","80074fc9b2b1793d55238df237053b0b20d3cb5b7c8b1f3e85724b10385a0835","80801dde8c103b1fa651936cbd0894fa7c35073a3a2dba2b1d1e6b5c1f3310e9","8703f2d6e751f4dd258abf588430fe9adf5da7302ee3752805cf4f135494ed8b","871587457f458d7c4918f4eb4769c80797fd7d55f061883738b354f68d84bd2b","8881914d1005256e6604ad6662470e89cc2bdf798c516a764ba8432b06ba8609","92741ba657e270e734c993c785471320be7634a3b53b81388e2d94a2d96e4d73","95135b1992f9b1248d9ab5eda9b072073cb3e2b16bb81cc37836de38ce2a12dd","a50ce4386c962c8e5bf213d4aaf8a2b9157363b2d820099f158115b2c07850ed","b7e26b2bc7c01ba103b8e56c5f1e23577e599e316bccf1e65179dec14e9d57b8","bb907f000211430095b246d315f623eca4526379e9eda06fc9a3d9973b8e12fd","be0a916520439379ddc637409474941d0c26e5ac0f69e44a42bd86363d3afd1a","c63e3d2fb40f213c39158dccedfe73ad6d59d5579d9ae041037abca942c96512","c732f6803a43bf31a35a03979c59a85d6066fb65650c75992b8186e6146387c9","cadff64b04f694214e528d190e9bc28f8bf539b4f4fd725a5e430889b361e7dd","cb263307519748cb747e9fc128771937399fd79a5311750b17010c45616695b6","cb70aaa49f04ef3c455d66b2a57734d05fb9ee80d27b27a0b1ac4b55221c5dbb","cded2249e3ae9bb3c5cd0700583dec382dddf95848b973efef3b996dab7a77d0","d52daaff2f0c5e3b1eb3591ef07553e169c6431b243bd0d09ff2edc025dec66a","d93f93da732e91d7910096ae52530e7371426bff01d8944d6fed263bf79e9a32","dfb971244f44bfd4c18070b6b0d4bb78c7900ca4b02db4a5ec7de76ac4715fd5","ebfd6983e84eadfc911f061901dc738059d5804bbcc618d1e072c2e5215dd5e7","f4facc45271d8403e9f030eb732c6e4fbc6f3e238544fba4866cc2f757436bf6"],"recordQualifiers":{},"scopeLabel":"ORPHA:90340","sourceIds":["ORPHA:90340"],"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:0008523/OMIM:186580","MONDO:0008523/ORPHA:90340"],"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":8,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":67,"sourceGroups":{"omim":11,"orphanet":46,"published":10}},"features":[{"hpoId":"HP:0000610","label":"Abnormal choroid morphology","primary":false},{"hpoId":"HP:0001291","label":"Abnormal cranial nerve morphology","primary":false},{"hpoId":"HP:0012647","label":"Abnormal inflammatory response","primary":false},{"hpoId":"HP:0000587","label":"Abnormal optic nerve morphology","primary":false},{"hpoId":"HP:0008046","label":"Abnormal retinal vascular morphology","primary":false},{"hpoId":"HP:0010286","label":"Abnormal salivary gland morphology","primary":false},{"hpoId":"HP:0000598","label":"Abnormality of the ear","primary":false},{"hpoId":"HP:0001392","label":"Abnormality of the liver","primary":false},{"hpoId":"HP:0001903","label":"Anemia","primary":false},{"hpoId":"HP:0004942","label":"Aortic aneurysm","primary":false},{"hpoId":"HP:0002829","label":"Arthralgia","primary":false},{"hpoId":"HP:0001369","label":"Arthritis","primary":false},{"hpoId":"HP:0000585","label":"Band keratopathy","primary":false},{"hpoId":"HP:0100490","label":"Camptodactyly of finger","primary":false},{"hpoId":"HP:0000518","label":"Cataract","primary":false},{"hpoId":"HP:0006770","label":"Clear cell renal cell carcinoma","primary":false},{"hpoId":"HP:0011505","label":"Cystoid macular edema","primary":false},{"hpoId":"HP:0000958","label":"Dry skin","primary":false},{"hpoId":"HP:0002094","label":"Dyspnea","primary":false},{"hpoId":"HP:0000964","label":"Eczematoid dermatitis","primary":false},{"hpoId":"HP:0010783","label":"Erythema","primary":false},{"hpoId":"HP:0012219","label":"Erythema nodosum","primary":false},{"hpoId":"HP:0010628","label":"Facial palsy","primary":false},{"hpoId":"HP:0001945","label":"Fever","primary":false},{"hpoId":"HP:0005830","label":"Flexion contracture of toe","primary":false},{"hpoId":"HP:0000501","label":"Glaucoma","primary":false},{"hpoId":"HP:0000953","label":"Hyperpigmentation of the skin","primary":false},{"hpoId":"HP:0000822","label":"Hypertension","primary":false},{"hpoId":"HP:0008064","label":"Ichthyosis","primary":false},{"hpoId":"HP:0007432","label":"Intermittent generalized erythematous papular rash","primary":false},{"hpoId":"HP:0001094","label":"Iridocyclitis","primary":false},{"hpoId":"HP:0001101","label":"Iritis","primary":false},{"hpoId":"HP:0001386","label":"Joint swelling","primary":false},{"hpoId":"HP:0000491","label":"Keratitis","primary":false},{"hpoId":"HP:0005310","label":"Large vessel vasculitis","primary":false},{"hpoId":"HP:0001376","label":"Limitation of joint mobility","primary":false},{"hpoId":"HP:0002716","label":"Lymphadenopathy","primary":false},{"hpoId":"HP:0000112","label":"Nephropathy","primary":false},{"hpoId":"HP:0007813","label":"Nongranulomatous uveitis","primary":false},{"hpoId":"HP:0200034","label":"Papule","primary":false},{"hpoId":"HP:0001701","label":"Pericarditis","primary":false},{"hpoId":"HP:0000613","label":"Photophobia","primary":false},{"hpoId":"HP:0005764","label":"Polyarticular arthritis","primary":false},{"hpoId":"HP:0012123","label":"Posterior uveitis","primary":false},{"hpoId":"HP:0002092","label":"Pulmonary arterial hypertension","primary":false},{"hpoId":"HP:0000488","label":"Retinopathy","primary":false},{"hpoId":"HP:0100654","label":"Retrobulbar optic neuritis","primary":false},{"hpoId":"HP:0000988","label":"Skin rash","primary":false},{"hpoId":"HP:0200042","label":"Skin ulcer","primary":false},{"hpoId":"HP:0001744","label":"Splenomegaly","primary":false},{"hpoId":"HP:0003774","label":"Stage 5 chronic kidney disease","primary":false},{"hpoId":"HP:0100769","label":"Synovitis","primary":false},{"hpoId":"HP:0025230","label":"Tendonitis","primary":false},{"hpoId":"HP:0000554","label":"Uveitis","primary":false},{"hpoId":"HP:0000572","label":"Visual loss","primary":false},{"hpoId":"HP:0000217","label":"Xerostomia","primary":false}],"ledeHtml":"Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.","mondoId":"MONDO:0008523","records":[{"frequencyKind":"reported","key":"049c7acfefca2a2139fc9887f0da620c2522d360f72172f5bdc7d355f3c79321","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000598","is_excluded":false,"label":"Abnormality of the ear","onset_id":null,"reference":"OMIM:186580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0f37513aff23a26db0ea69b5353ebc14670c33bf23494f5c7278a2242cdd0e4e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0025230","is_excluded":false,"label":"Tendonitis","onset_id":null,"reference":"OMIM:186580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0fc0043d95b3ab97627b7b9e7c246a708c652548a9bebc14b0712e87606a55d2","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002829","is_excluded":false,"label":"Arthralgia","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1761cdee4c48efdc6c67600a58da57749e4b50334ff03150e8e0413634624a76","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0200042","is_excluded":false,"label":"Skin ulcer","onset_id":null,"reference":"OMIM:186580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"178d76b28af213eeefd49fbbcaa0c3b090fbd5d1e32922b7d5e99b164c9a3756","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000501","is_excluded":false,"label":"Glaucoma","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1792238d57b57a6c0d9927395d13fd60c70e4a82436a792972ffbb16d804a057","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007813","is_excluded":false,"label":"Nongranulomatous uveitis","onset_id":null,"reference":"OMIM:186580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1833803f3e48cdb90773115f0b1384c98e3382557fa2eb46e6ce18499efb0256","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002716","is_excluded":false,"label":"Lymphadenopathy","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"217ed2e728b148f14a9690fb41504c46fb8b77297cec2679023565ba56c972ae","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001392","is_excluded":false,"label":"Abnormality of the liver","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"238aa2db7ec82751a897c8b3b407aa55dc9e306c6616d218a802b0eaa97b7514","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002094","is_excluded":false,"label":"Dyspnea","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"255f59cb25631bd5f156ff88a39e689ec606cb4bfa39e3bebbe48772b2622cc9","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000491","is_excluded":false,"label":"Keratitis","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"25acb2066dd6e6c9b351adea6e568335f7c81fea75746f202a7e52ad8617748e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005830","is_excluded":false,"label":"Flexion contracture of toe","onset_id":null,"reference":"OMIM:186580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"329b13e3e733490fdc89970b12986b1056958f40720eb08ca95a686f6ad333d5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001291","is_excluded":false,"label":"Abnormal cranial nerve morphology","onset_id":null,"reference":"OMIM:186580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"32be0d6675cdd1e0a1f04b8623e9fc18f4fd9353c8f250469578e6d8fc84f193","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"PCS","frequency_raw":"39/54","hpo_id":"HP:0000554","is_excluded":false,"label":"Uveitis","onset_id":null,"reference":"PMID:19479837;PMID:11528384","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"346b04fbb38b15c6ed0f2bf4a9dd870da9cbd123899e217768a4e6a3104826b3","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"PCS","frequency_raw":"2/45","hpo_id":"HP:0001701","is_excluded":false,"label":"Pericarditis","onset_id":null,"reference":"PMID:19479837","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"350d087156bcadccfa938cac4a2bf84bbd6e08b2b3484fdcf678a2da922936be","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0100769","is_excluded":false,"label":"Synovitis","onset_id":null,"reference":"PMID:19479837","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"354e4787ed7dcba75945528551392f4e6b51b9763317fbace05bf3200189c35f","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"37393a442f98b777300d928bf1e815ffcef0bb8fef4ebf80289b4c2298bda560","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000610","is_excluded":false,"label":"Abnormal choroid morphology","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"37bad16f4c57ee8f48508ff23445129aed26124d9913a4da948ccb468086f8e3","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0200042","is_excluded":false,"label":"Skin ulcer","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3a826b4d39e138c37c25cd21b396790c75c4d87833e87548d588e7d38887ed8b","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"PCS","frequency_raw":"42/44","hpo_id":"HP:0007432","is_excluded":false,"label":"Intermittent generalized erythematous papular rash","onset_id":null,"reference":"PMID:19479837","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3c7760e23c5c56caeae9d5af697ab7321add4f0d857e9d4eb89bdc09434fdfec","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008046","is_excluded":false,"label":"Abnormal retinal vascular morphology","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"46136067ab2ad5ecf91e54fc0fe9aef196da630417787c83c21ef5cf6459f4bf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001291","is_excluded":false,"label":"Abnormal cranial nerve morphology","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4b17a7d60707e8ce3e79f8613527186ff2580e709e5293e00a8cd30501559136","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011505","is_excluded":false,"label":"Cystoid macular edema","onset_id":null,"reference":"OMIM:186580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"4e2ca7e3192bc672d9582dce8e8348ff01f5e468754e768c6dae3aa44c7c2f16","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001386","is_excluded":false,"label":"Joint swelling","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"506a9b9173a90878ac17e63c153492f2b44a6b7a54f89c9d6380fea86cccdbc5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100490","is_excluded":false,"label":"Camptodactyly of finger","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"521b9dfc27f46a0530be598177e62dc44f7b6151de9620a8282fb9847007e176","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"PCS","frequency_raw":"61/66","hpo_id":"HP:0001369","is_excluded":false,"label":"Arthritis","onset_id":null,"reference":"PMID:19479837;PMID:11528384;PMID:4056967","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"552793617296b2ec868ba5b5fb1bf997b8388e78182ad9bdfb58d3c3264ab1eb","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012219","is_excluded":false,"label":"Erythema nodosum","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"55c5f17d6453d4f4817bdb9e79fbb16384c56013ac7483ba0d1cace492cf74cf","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000112","is_excluded":false,"label":"Nephropathy","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6209068b79ac1bb67e99efb297d44bd08f01510cb6e74a220435a4ffac7f9916","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000958","is_excluded":false,"label":"Dry skin","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6217289ebceda64b59162d2eb800b7ef367c2ffbbb6786adc89d06512e23fa3b","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006770","is_excluded":false,"label":"Clear cell renal cell carcinoma","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"63995f244b6262d4e911ec209be327aba2cf61e40530ca517139eda33d89548a","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000488","is_excluded":false,"label":"Retinopathy","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"640c58695e34c41a6ab02425ed5bcf785d9e25b68caf6a462b4fc053ade321c1","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010783","is_excluded":false,"label":"Erythema","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6a13dca27d1df0d03c24bc6d5110417a40b79733c713c552c5194225972cf6b5","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6db7ebc294b8fb02ef72b2a3982be8f83c78398e73cd7745d033e845279f0d68","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000613","is_excluded":false,"label":"Photophobia","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"712b20bfc45b0f2c2bd38e459d42999b307507a3d6b800b4a243a2d4f013e8d1","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012123","is_excluded":false,"label":"Posterior uveitis","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"738db164d6377bf490f8416d3ee806253f1645e98ce2cb1214fe90dcb6ed146c","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000953","is_excluded":false,"label":"Hyperpigmentation of the skin","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"76d21b48e80aecb9e1ccd1de938fc4bec4e138a106b9c2b16db2612790adf4d7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"PCS","frequency_raw":"17/20","hpo_id":"HP:0100490","is_excluded":false,"label":"Camptodactyly of finger","onset_id":null,"reference":"PMID:11528384;OMIM:186580","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7ce6f88a8ca517318410af011435bfcaf40f614bc1789a2b5354d02e090a885b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005764","is_excluded":false,"label":"Polyarticular arthritis","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7cebf5524130aa22c77af1e09e7b168ca0bcc4d8cda1da994184808581f65a3d","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000964","is_excluded":false,"label":"Eczematoid dermatitis","onset_id":null,"reference":"OMIM:186580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"80074fc9b2b1793d55238df237053b0b20d3cb5b7c8b1f3e85724b10385a0835","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000822","is_excluded":false,"label":"Hypertension","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"80801dde8c103b1fa651936cbd0894fa7c35073a3a2dba2b1d1e6b5c1f3310e9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001376","is_excluded":false,"label":"Limitation of joint mobility","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8703f2d6e751f4dd258abf588430fe9adf5da7302ee3752805cf4f135494ed8b","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001094","is_excluded":false,"label":"Iridocyclitis","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"871587457f458d7c4918f4eb4769c80797fd7d55f061883738b354f68d84bd2b","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001903","is_excluded":false,"label":"Anemia","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8881914d1005256e6604ad6662470e89cc2bdf798c516a764ba8432b06ba8609","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0200034","is_excluded":false,"label":"Papule","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"92741ba657e270e734c993c785471320be7634a3b53b81388e2d94a2d96e4d73","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010628","is_excluded":false,"label":"Facial palsy","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"95135b1992f9b1248d9ab5eda9b072073cb3e2b16bb81cc37836de38ce2a12dd","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003774","is_excluded":false,"label":"Stage 5 chronic kidney disease","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9d10d73461c80f801616ce8945ed3f43edb686fe6e6357fb21acf159cad9fa60","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"PCS","frequency_raw":"3/45","hpo_id":"HP:0012219","is_excluded":false,"label":"Erythema nodosum","onset_id":null,"reference":"PMID:19479837","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a50ce4386c962c8e5bf213d4aaf8a2b9157363b2d820099f158115b2c07850ed","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000988","is_excluded":false,"label":"Skin rash","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"af0307bb4a56002f115946dd82955f79760611651edd71391c8f33f3f2aaa37f","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"PCS","frequency_raw":"4/45","hpo_id":"HP:0000822","is_excluded":false,"label":"Hypertension","onset_id":null,"reference":"PMID:19479837","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b615ce86cde42462fd6d06041bf14d41d6458d802c87ab860d9e6c2e67a90c73","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"PCS","frequency_raw":"3/11","hpo_id":"HP:0001101","is_excluded":false,"label":"Iritis","onset_id":null,"reference":"PMID:4056967","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b7e26b2bc7c01ba103b8e56c5f1e23577e599e316bccf1e65179dec14e9d57b8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001369","is_excluded":false,"label":"Arthritis","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bb907f000211430095b246d315f623eca4526379e9eda06fc9a3d9973b8e12fd","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010286","is_excluded":false,"label":"Abnormal salivary gland morphology","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bd7b108f6ae198ddfdd4aba7b556341514d22d707595f2b80243efcc35892cd5","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"OMIM:186580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"be0a916520439379ddc637409474941d0c26e5ac0f69e44a42bd86363d3afd1a","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100654","is_excluded":false,"label":"Retrobulbar optic neuritis","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c63e3d2fb40f213c39158dccedfe73ad6d59d5579d9ae041037abca942c96512","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100769","is_excluded":false,"label":"Synovitis","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c732f6803a43bf31a35a03979c59a85d6066fb65650c75992b8186e6146387c9","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001701","is_excluded":false,"label":"Pericarditis","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cadff64b04f694214e528d190e9bc28f8bf539b4f4fd725a5e430889b361e7dd","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002092","is_excluded":false,"label":"Pulmonary arterial hypertension","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cb263307519748cb747e9fc128771937399fd79a5311750b17010c45616695b6","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001945","is_excluded":false,"label":"Fever","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cb70aaa49f04ef3c455d66b2a57734d05fb9ee80d27b27a0b1ac4b55221c5dbb","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012647","is_excluded":false,"label":"Abnormal inflammatory response","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cded2249e3ae9bb3c5cd0700583dec382dddf95848b973efef3b996dab7a77d0","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005310","is_excluded":false,"label":"Large vessel vasculitis","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d52daaff2f0c5e3b1eb3591ef07553e169c6431b243bd0d09ff2edc025dec66a","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008064","is_excluded":false,"label":"Ichthyosis","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d93f93da732e91d7910096ae52530e7371426bff01d8944d6fed263bf79e9a32","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004942","is_excluded":false,"label":"Aortic aneurysm","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"df6069db1db1d70ba495a43d56bcf37d8f22ff3184f3afe97337d51b1f5c3215","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000585","is_excluded":false,"label":"Band keratopathy","onset_id":null,"reference":"OMIM:186580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"dfb971244f44bfd4c18070b6b0d4bb78c7900ca4b02db4a5ec7de76ac4715fd5","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000217","is_excluded":false,"label":"Xerostomia","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ebfd6983e84eadfc911f061901dc738059d5804bbcc618d1e072c2e5215dd5e7","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000572","is_excluded":false,"label":"Visual loss","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f4facc45271d8403e9f030eb732c6e4fbc6f3e238544fba4866cc2f757436bf6","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90340","disease_name":"Blau syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000587","is_excluded":false,"label":"Abnormal optic nerve morphology","onset_id":null,"reference":"ORPHA:90340","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f94da068267b78a3eee1ba3f7f75427e155e07987a7a031e2f0046cb3afb63e4","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000501","is_excluded":false,"label":"Glaucoma","onset_id":null,"reference":"OMIM:186580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fb9181291e70f0d8c058ceddeff87e27ecea489b1975a3e953b9a046fb0a190d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:186580","disease_name":"Blau syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001386","is_excluded":false,"label":"Joint swelling","onset_id":null,"reference":"PMID:4056967","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/blau-syndrome\">Blau 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>Blau syndrome results from mutations in the NOD2 gene. The protein produced from this gene helps defend the body from foreign invaders, such as viruses and bacteria, by playing several essential roles in the immune response, including inflammatory reactions. An inflammatory reaction occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair.</p><p>The NOD2 gene mutations that cause Blau syndrome result in a NOD2 protein that is overactive, which can alter immune responses and trigger an abnormal inflammatory reaction. However, it is unclear how overactivation of the NOD2 protein causes the specific pattern of inflammation affecting the joints, eyes, and skin that is characteristic of Blau syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/blau-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Blau syndrome?"},{"bodyHtml":"<p>A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve hard lumps (nodules) that can be felt under the skin. The rash is usually found on the torso, arms, and legs.</p><p>Arthritis is another common feature of Blau syndrome. In affected individuals, arthritis is characterized by inflammation of the lining of the joints (the synovium). This inflammation, known as synovitis, is associated with swelling and joint pain. Synovitis usually begins in the joints of the hands, feet, wrists, and ankles. As the condition worsens, it can involve additional joints and restrict movement by decreasing the range of motion in many joints. In people with Blau syndrome, the tendons as well as the joints can be inflamed, causing tenosynovitis.</p><p>Most people with Blau syndrome also develop uveitis, which is swelling and inflammation of the middle layer of the eye (the uvea). The uvea includes the colored portion of the eye (the iris) and related tissues that underlie the white part of the eye (the sclera). Uveitis can cause eye irritation and pain, increased sensitivity to bright light (photophobia), and blurred vision. Other structures in the eye can also become inflamed, including the outermost protective layer of the eye (the conjunctiva), the tear glands, the specialized light-sensitive tissue that lines the back of the eye (the retina), and the nerve that carries information from the eye to the brain (the optic nerve). While individuals with Blau syndrome may have normal vision, inflammation of any of these structures can lead to severe vision impairment or blindness.</p><p>Some individuals with Blau syndrome develop kidney disease (nephritis) due to inflammation. They may also have deposits of calcium in the kidneys (nephrocalcinosis) and often develop chronic kidney failure. Inflammation of blood vessels (vasculitis) can cause scarring and tissue death in the vessels and impedes blood flow to tissues and organs.</p><p>Less commonly, Blau syndrome can affect other parts of the body, including the liver, spleen, lymph nodes, brain, blood vessels, lungs, and heart. Inflammation involving these organs and tissues can impair their function and cause life-threatening complications. Rarely, affected individuals have disturbances in nerve function (neuropathy), episodes of fever, or high blood pressure in the blood vessels that carry blood from the heart to the lungs (pulmonary hypertension).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/blau-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"blau-syndrome","sourceDocuments":[{"name":"Blau syndrome","reviewed":"2012-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:53.248766+00:00","label":"Causes","pageSha256":"4975c6638263ec86b813aa9d7fefeef76ac813cdf978fa153d8769fd98139aa4","sourceUrl":"https://medlineplus.gov/genetics/condition/blau-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/blau-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":"Blau syndrome"},"schemaVersion":1}