{"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:0009308/OMIM:233690","label":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","mondoId":"MONDO:0009308","onsetQualifier":null,"recordKeys":["001984cc99168cee01c5bf8155dca3e2949f0edaf187714956fd918cadec8a19","0c9bc88bdc4598e350be4f2897459818406adf7a1018afece5c9c5b47e2c08f8","1fe628e2508b150a08591746a1f76e37ef149a01509689019bac26f97cfc0cb3","24eccba5418369f3d76750777dbf48ef881d83888e1988fcb2a44c853b6f1627","2b3b677eb0b0f7e029fccc9d72ab9074343a10dde87aefc5fa28958043023911","2cdf16fb1428f2f1aed7838aabdbcc488fe69a70ba011c84f4c40ef5310d7e08","5450aed91a7f871a28502ef0852ce2155f0e79d8d2a8d4d04556215b2b05e8b0","57349a5fa99b4ab22b81966e0060668bf1d0ef30d3164167e69e196e2cd2d186","57668ceef38a69c11a012640cd2ab92340b92fe90af3af8880f3145db8665ee3","62c0522d439d55272ec13e11c901feb32a509a6ad792ef4aed6cff242911b3fb","67e63fe340a64294692a40b8a13296af649ed9cd37c5facc145355fb5554ec55","7cb1c7f3799c0e46948cdf7601824ed066dc810dad6f1c288ae09c7ee3b80b3b","86d6ca38411bc05bf8822ac8f3c5d731963b41acab79461ebd646109fe34b54f","89472017c847061dfc412f838d57035d0ca9f41afcb503b26dac6d3ef3a5650a","ae653b49a57cee112e68ed9a8e245d44c34904fffdf9572d36cf40c020fe3821","b7642d78be4746327ef8e9262af103e3f9aa7bcf87f6c8341eb3dc501880eda4","bb1d6bf28a34e6eaac20fc1d3ffd9e1055c9a0ccf70271b22b0f1e0a852e119b","d1a0f92b12f5a50fb4663ed725700487df7ea8058331c8b04f817ee40bff0e38","ec2ba430777a70260940c42fc78a39d4219b0a12edcf5383834ee9f716462628","efe0c6b49e1f5938c1ffd94261d82ebc042da70a6e24fd4641a9b570cc8fda78","f286e0154d99be7230e255b88891e14f0648f92f1ef985591d09880c35e9704d","f81870a6564e96664cd406782df39f69f2cd5bfa1313780b4e9b6fda8a6112f9","fcac747d69273b232fea70f9a52da5f4944c0856e089cd5365bf328b0bc28048","fcb25aa6de033999a3cdd9c023e86f3ef99d7054dd56fc4f70d496647bea7a7f"],"recordQualifiers":{},"scopeLabel":"OMIM:233690","sourceIds":["OMIM:233690"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0009309/OMIM:233700","label":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","mondoId":"MONDO:0009309","onsetQualifier":null,"recordKeys":["058e234b8840afeaafe9f81272f6e676009f4cc9a9bd57a7c37a8852b0f435ea","08b7fdadef39e23015e55dab602dad94054a9d92947fd8c61538c41d260b4742","2ec669a4621f2f63232803a6366c7338cfc65242062c2d4a43aab4340d046ba6","49df1f526081af5807e0d123e0961722fecbbbea1b111347a8745e366efd2a74","515b46a1fa81920573b61d62bfe65bf557d222cbca855831ac7240fe6d7ca0d6","518de51f8dd31654041894b22e0c626be1261af40aa7ceaba95c5531590818fa","5ac4146f18c645a338019817da71570f70eaa1bf717ec8f444da446cf98fe574","5f42511eb2ca30167412b2bd4d3a861a1ee9156c0704c9cc6607302d97053055","6ccf80321e3e16cff463624558f80837a2861a90965ea48c03dcfedcb2ed41c3","870e52d7fd56f4498025cae68714d10b6fa6fd297f3ba4e5e426d673bf8949d8","89e6cdcf52755d5bcca9c928b627a176aeaac153d93abee2d312b0ced439ab4a","8c7e3912473721530ef53a8d5e85bd4558adf72a1bc95dc66d028dbc367b0ff5","8c91f9672c2777c504b521f30b0c7f25f3c4ec4dbe021bd9077d6b132d55d4dd","aab1a086f4a02321a7bd3c5826df5ee581fb6b128209528f44fa45974ee264e1","c19c583229096299d3a39240d0db828f6bfc6d932d297c176cfdca79101ae61f","c7a829eaa66d4c91af439ba867b74f9b6acb02b1db7f5f7577e5a893d79d54b9","c8c107afe5c5f79b9ecd054bae62d1a22452bdf732fee28ae80a3a6c03725c0d","d1adac3fe9407dd05f1b00f9cb402254b76fbb73f1a743de9eeca3334802ba85","d2c8d95a34fad31ba828a4049ee8133cc3c52ab41e0e270cfd87246c95a3ada9","d9d9ad01d0849cddcd589f8a607503debe79fc3b3a687c746992dd64d45ad52d","dd06a86393b54d3475828204e1deaffccd56a336ccf0c400df30d808540d6ae3","ede26d2966fec65b4cbce489e4922dbd3098be7c85938d5d92ab304eec49a5d3","fc38b064c3ca7229de01af27abeafbb65d46e35634f2e4b233eeb0787027fa1c"],"recordQualifiers":{},"scopeLabel":"OMIM:233700","sourceIds":["OMIM:233700"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0009310/OMIM:233710","label":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","mondoId":"MONDO:0009310","onsetQualifier":null,"recordKeys":["068e49a45f3d7719f6347cb1df06db3e5033636ce84616e76ec5977b00b25dd9","0b42811a6e7be5e7b45e3b29ce62aa073d7fab03f4b9ca08c55ffde67063145e","0b622ac846e5fd74bef7f8e2b82cc4de120d3a9534d843b2ac3e8ac49373dca1","0e40ccb480675a54fe5adaa640548477bba8c9c5aac93df99c1a04fd624db888","19b3899cef58eb701af535584712be39be6df7de99339392ade5cd5d597e521e","1bdd9becffb6162e6df0fdca2870adcade90096d68686e2b7cd8ac9206fb7d3d","1fcf0bbe52a3f3a20fe7641f8a1d549b8a3adaad1519cc9e52f66310e61b1d86","24f4854d053148c584d348071e50b174ea120f70a14f316d747237e6a70fbfc3","28237a88e3a3f5289a7429ef75a546ddf5c9a5140a3eb2d1d565efde9403ea30","311d11d3f19e222e0e80a133446202626aa9bc76c70569213d39bdf9cab2fd9d","3c4f589c591d0f2731d26af4c6df10d6657b6369d87990bd7b78557e4b358723","3f3ca1bc74b1ca5d103eccfde7d55d9ad2a436f7a88867dd62d51dd9cc741210","43a65e5e7c186e78e9d0f109d7af03903749367613abe47beef2b27304dd7f9c","5792649b16762bf55756afa4be0ef6fe10693158b930d800f67a5978889924c5","5d7eac863733178a69e06ec052f63847fa890071d283b05eaa0690b4157e9ad7","66083dd2b2cca339219b4cdf6a6945e505d99f91d34800408305a28ec4de1ec5","797efc58ff8a7feaa328f56a793f94dabc6de2b9b2abd35c36b789872e78041f","7be46ecace461b9c6546a4513a34423943238a5f5f00c0e71de147ec1fa5ecff","89411aa46f66c5ba1db383f6d72ad70689cbf9a6a268d7a2e272a1016ac436c0","969ace6c1171631a17103a8f84b4eeb05c388417053a25161de2261817112602","99e5b8b26ba9742faa8357168995dbd63908ffdd4709053dad31b2356f200632","9cc8719d02d15a70c5c7a218a0453eca9fc0e609a1a406a1d7136250d929adcd","a2f28772bb6ab931306875eb6e86aba5a9b01623641d8842c690c48d0872898f","aad81561f802318695c83beef9d98f336543f2dc18cd39a411d505a779f1d796","ab316b8c9071579b5a71a820201c31fd9b7f304f87844b8100b6b59afd57e2db","b8704a2ce04472071990a10017b4b290f5a342a982a1ae009a908cf56973421c","bfaf5275a893ec6b2b9f3a4d8491af714dffb6c26c06fa2b54bc75c742b4b093","c0319e994910a061ef555ba7e696f33f5ea86deb5227b73fdc2a855ddfc95644","c45345859636dea4bfdb5522a29d3fdd3b293aaf0d828531a528220291b321b2","d19929537f509b36e9f22747db5ad504109eaa010f959a5dc0f9cfa398b10669","e2fdebd7b3bbefcdf67202fe6a7d95e5b26d5582efbde860f259bb0685d1ab2a","e5a62fc3832ff0d5c379a13683e7c3e50ffddb6a286f8456009f3c2781816f3d","e8baa4d50e6639e93a373a6e98d784721dbb1f5ce5043cbf8b5325f01417aebe","ea3a5bc12baa22faf8bc655b49713d180e7d2f90bc9bbfc52e6f597b321dacfa","eee331d99cf8cd7c326967606059138d5196fdf9339059deeed8db7d768eef53","f03cfaf5f738bcf1514e60f1f70abfa0dfb00c28ed52285d3d10aa442f79eb10"],"recordQualifiers":{},"scopeLabel":"OMIM:233710","sourceIds":["OMIM:233710"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010600/OMIM:306400","label":"Chronic granulomatous disease, X-linked","mondoId":"MONDO:0010600","onsetQualifier":null,"recordKeys":["0e39e8d657bebc4db1d36237d822a72ee73a7ed6a10632e9c1264de37dbdb2de","1145f06d7dfcc118c861126e481353560545b370a50a53210125439aefe9f507","16eae01bc151cadf853f4edb83ea14b0a8d79df7dcea212febe3c02d3589fb41","1a7aac8a3e339708e7fa6c31f303e002eca908fe1d4527183dd109d3eeb483d8","2418d0b2aa0f5f390f8baf513f382916059150bf923baf75528312426ec50f76","24ded037009d2497df5a41cdaec9eb95cfb67eb00e6ba66aefb8c2e3f565eb91","25b719584359affe7c153caa6ccddcf0b5dfabb3e6d5ba77401f1e15dabee8de","4e8ad18e42a9964bd1db1f0b7294d5bffaa65dedf34dd7d422aabd93c15f7a11","53c31fded4ea7aba47ce2c25729ceb4ffd6ee34cb3840876bef6e863a62d10f4","55f34bbe8ac0b9672be4ffbd8d93edcaaf946eb1204fef3f49e31e403b897748","62ab52f1cd14ef4241fa53e97d6b0b8310ea77e662be600c620367d288cdee38","6349cb954d89649e451c7e10713bd189a63d26f683a5381f9da06207d9ff9dfc","6c7ab7ba77f85e8d310cce011cf20b143e9d5379a0859e54de2fba255558d8f1","7324deb6d64d3bda23766bb695a2bdbd4bb423afe3656a60588b4f7fc19db474","73691287518d62905a9842e37308fa27e42bfe339b7595411c7b3fa92f8d56b0","82bd90dc620f3e232fb4484fcca9b3fe2ef9edfdd4553be93d847aae85224bf1","85605eca95779ce6a5964654dc62c8eb74f0ac6a2e713f66fbfb88320c0f89b8","8e72a0a1ceeab2fca68848c24b496f6a6e1a570d02d48790821f1d353b7e36f0","8fa5fa5f68718a817b6c98288d9243c452756f1eafffd418c88537a7c1ebe584","92f8f66bd86eeda6a8c1a977a9215049c6ca0e070f48b2620de42b779352d3c4","958f3216dd390525f3c4d79d4d01f6ea06a40f8cde14a4baa1baa955bf6fa03f","a059cec03717e2a582f8b8a87df6a1decd3b81f2029ee994c942f1697aa955bc","ad217ce153351edbde5300b9fe00a8617755ad8b80103aff4319bdfbe9ac6c7d","bc02dffa7e83e22843b7c6ed8cb41fbd136b8d8c04621f7ba2fd84e218c22b5c","be8094311debc892e09880864b8c1af91a08a4992e69a1345ebc978c6da2d0a1","ca5fd9ae730663825e5ae6a35c880748c8a46cc5d25eb343bae3795bbcdcb2f6","d582013ed14bd65ee2702d447d8f85404e9f1216fb590d4a5b8d0292f76fc4b5","f0facaf08e16374cb3d0cffe1a68728149a152920f72bebb0a5c57c32f169f13","f4303594d9f92678b22d46132531d843f78b5e592e80c346ce956db6b8ac93fd","f496ffd350834d3abddd4f99c678bbbbc356948eaae667cb4f859ae45cbf0d21","f5f09b2d021fb47e279ea5f7503b5db43b29ccf3da218d464039da9c5c936ec9"],"recordQualifiers":{},"scopeLabel":"OMIM:306400","sourceIds":["OMIM:306400"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0013507/OMIM:613960","label":"Chronic granulomatous disease 3, autosomal recessive","mondoId":"MONDO:0013507","onsetQualifier":null,"recordKeys":["1884e94df0b4cc34caf9fa20db18da0ecc7ec865ace16c2625609cfe3038b367","1e289fd776d3ab85fac6fa47d7383eedff8b2c2285732b5fa626c830723f28da","2c1be28de8d68dc1ed4189015c20078ff046770eac19cf56d20d4f1dd0ba53b1","348345b63411ed9956c48923121c21ddc1bba870a80bd753747baab6e342a854","4adfbe71899b2d4da63d8ad147f07081d82f31dbab3c42b164a897da76303db6","6ac97fa8e2ab8eff6efae63cd7641d9dae5b389a3efeb995d535baca06a284ed","be75f4e55b6a7a37835671d40449b49f1bb35a4472c215afae40dfdda8ccad05","c31271a30a3a03d549831fb7d7deabbb27a5f324ac7aa499dd4ec14c55b0ca20","eca867cd515839cb678d673b15106946b4dd5e99e940f3aea114c394ecf304b2","ee4da19dc294e14797d47b1ff0a9d179e088f14caa8b0aa825251e5b813fbb20"],"recordQualifiers":{},"scopeLabel":"OMIM:613960","sourceIds":["OMIM:613960"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0030066/OMIM:618935","label":"Chronic granulomatous disease 5, autosomal recessive","mondoId":"MONDO:0030066","onsetQualifier":null,"recordKeys":["0c51cc05e28dcd33a069755a5847f996c386b649191332a88461687afcee9d73","0dde700d9907f5f352e7e9d0802648ef271333595359a48cb6e409703ccea3a3","11676c450350629f6db2666637421c02fab18af6dcce92a22fbb43f72a04f6c9","22c628281b071ba1b2b0f5b614610ba142f7d294e282c6732d1ffe5b1c62b46a","25fadf21ca4992dc843814858b82ba3421a3ae3783298c54784e1acae8092be2","3c47b6eacfc211c41fbed704a4eb728a577ba52d71eda66eca82752f787873ea","3e8533987b8216956007640eeaa872b9685d56d5c7571b9d088aa9ddbf4c888c","4366728af8235ad6ede36df6649815b541763af7bbe0f29398f579aff5201875","515da1bc9f0dd45274091aab381a9ab81b485e6562b87bea7232d79687a8f26c","544faca7744989004da088a3448016c246e7ad3b2c03d6bce13d44da08f77548","621e75a004bcf3da72eaeaeb6af27ddcf7f9fb18eefb0f95793163739d79a0b1","6ad242942b6abdb23f52e69ca1e21e5718cec6e2ca1b6b120db1d5575720295d","6b07d62520a86b14247e3a222b2d5e04862aa65258db9b0ed3eac54e04e3864d","7208adb05fa492ab525c77a51b8a483690c4496053bfed5430dd217ec0c7ec0d","75cb0314c1fd5591cd6e8b4de961a43dfacf1f08a9e81a443b2d9183f3a6262b","7c396dbb18487aadfbdf8a6e5c10ec89f781c566ce9b7223460709c4b2f4974e","91f1ba687c769f2566c12f822bf738e3a41fabde36335af584a8de905ea3ae03","abdf087015706a6cf94dc86098d3ba7f79d39161443d6149f61dd2d122207c49","b36ef56fa9e1a00dde194fb1c0f79b831ddc5a0a974bc4d00ff3d318d5a69596","b7c45f3fcae5b3930fd76812707a680ebff44e470b550f9d9042e78e14982735","ba3619b5cab27c277426327d4b2f4cef2ee673e647c1ea7907b15aa8d0ee753a","bdbcd374cf362137adaf91300e70c78803823e2b0bf9af413e3da1a8b048e08a","be03d72584b5888974c90e93bdec5a9a25e128446b03e01b1e37170392db9a4b","caa5364ada0d6c07c8f84aaaf462361a41d6bcad64ac36e7023c33578007ea39","f7a6bdf0c1df2e163a0be6908956905dfc5ec0c244e6f1915636f07663320203","fe4b34c78db7b33fde7f096a701cb8c41c9c92149b397803d5acb07e788eb6e8"],"recordQualifiers":{},"scopeLabel":"OMIM:618935","sourceIds":["OMIM:618935"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0018305/ORPHA:379","label":"Chronic granulomatous disease","mondoId":"MONDO:0018305","onsetQualifier":null,"recordKeys":["178a8407f553970cde710b76f384420cff01b075364f507a5a0bf6ebbff085a4","22acc4da2a8ac13b8dbc79d60f86105e82712f0ffeee268886a7ee1a022fdeee","32bee3f1dc39942f30226e3ae0bebe9afad4ecac9bac216620647d5596589e12","3bcf22ad4af481b9d55fb99206382a9700c96728e32ae516e7a6f08fd5df4408","47d302827a71786bab9bc29a4b14a7fe5c2521853fbc92c38d330b120c8726ef","591d95e8dc1b964972986a014460f1d83df55193b43852905f07eb4ea7a3793b","64e762c3b73264ffb4aeb8da225d6c8a461e6d687fc6af6c05f2ecb7c1115833","6c1db1ddeeeb94223bd25598a8fda17187c9edd4f342df0032c8dcd98969e79a","79e84acdc816ca9a338b0570ef231c987dca3e6044185396362bc73b10d9525b","92aa93c7f6e5d90b79c1fe3db991c4879001863d1bc476e0a7526453db876e55","9c8a2e19dd0b5e327069d18a21218ae475b574c12dd2eb277d6c6369ed019637","a88029473cd8a8a433e09251df3e1dbe15b89c9850799569c47330f99ac2f3eb","cb3896a79ac16b0f2a71398abf5bf36f8cd58ae138058f4c39c823af1345f922","cbf057286414cc51a3634f95cae9e67c84f23c7db8433ebc0867b9568b761fbc","d62f9881810e7aa5480f016f3548de8c0218ec5ccd3c3e8e5e1fa4adadb71379","dc5c9ca602489864403fb2fcfcc3f0822373f385bb3f8eb9c321b688358840dd","ded7f76d3d91a31b891a4d1a1c900f2371332a12ff08386326bb5469384f5c26","e357a1d1fa408bc1a9db7f729418809b2bb58b4817378922cf3c1fe752234132","e6125183262dbff3ac1834420f93d31652fd2b5f198ed2d148e0c58939d4a569","e99ad87c0302dbab46b82f590a8617104d8ae9309a8a9f12882f1a603c395390","eae46fcba255230a298e67c54613c00e9f8464059a1a71b7eb836d58e17974d7","fa5a8cf0900cc3c3cc306373634d0b5239fcdabbe53dbb995bf7660c2c42e7f3"],"recordQualifiers":{},"scopeLabel":"ORPHA:379","sourceIds":["ORPHA:379"],"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:0009308/OMIM:233690","MONDO:0009309/OMIM:233700","MONDO:0009310/OMIM:233710","MONDO:0010600/OMIM:306400"],"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":61,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":172,"sourceGroups":{"omim":84,"orphanet":22,"published":66}},"features":[{"hpoId":"HP:0002027","label":"Abdominal pain","primary":false},{"hpoId":"HP:0001874","label":"Abnormality of neutrophils","primary":false},{"hpoId":"HP:0025615","label":"Abscess","primary":false},{"hpoId":"HP:0002723","label":"Absence of bactericidal oxidative respiratory burst in phagocytes","primary":false},{"hpoId":"HP:0001735","label":"Acute pancreatitis","primary":false},{"hpoId":"HP:0033662","label":"Air bronchogram","primary":false},{"hpoId":"HP:0012390","label":"Anal fissure","primary":false},{"hpoId":"HP:0005218","label":"Anoperineal fistula","primary":false},{"hpoId":"HP:0001541","label":"Ascites","primary":false},{"hpoId":"HP:0100750","label":"Atelectasis","primary":false},{"hpoId":"HP:0034752","label":"Axillary lymphadenopathy","primary":false},{"hpoId":"HP:0100658","label":"Cellulitis","primary":false},{"hpoId":"HP:0025289","label":"Cervical lymphadenopathy","primary":false},{"hpoId":"HP:0006510","label":"Chronic pulmonary obstruction","primary":false},{"hpoId":"HP:0002583","label":"Colitis","primary":false},{"hpoId":"HP:0012735","label":"Cough","primary":false},{"hpoId":"HP:0100280","label":"Crohn's disease","primary":false},{"hpoId":"HP:0000992","label":"Cutaneous photosensitivity","primary":false},{"hpoId":"HP:0003206","label":"Decreased activity of NADPH oxidase","primary":false},{"hpoId":"HP:0003203","label":"Decreased neutrophil oxidative burst","primary":false},{"hpoId":"HP:0001888","label":"Decreased total lymphocyte count","primary":false},{"hpoId":"HP:0003514","label":"Deficiency or absence of cytochrome b(-245)","primary":false},{"hpoId":"HP:0002014","label":"Diarrhea","primary":false},{"hpoId":"HP:0007417","label":"Discoid lupus rash","primary":false},{"hpoId":"HP:0000964","label":"Eczematoid dermatitis","primary":false},{"hpoId":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","primary":false},{"hpoId":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0001945","label":"Fever","primary":false},{"hpoId":"HP:0000230","label":"Gingivitis","primary":false},{"hpoId":"HP:0032252","label":"Granuloma","primary":false},{"hpoId":"HP:0002955","label":"Granulomatosis","primary":false},{"hpoId":"HP:0001878","label":"Hemolytic anemia","primary":false},{"hpoId":"HP:0002240","label":"Hepatomegaly","primary":false},{"hpoId":"HP:0001433","label":"Hepatosplenomegaly","primary":false},{"hpoId":"HP:0001034","label":"Hypermelanotic macule","primary":false},{"hpoId":"HP:0002721","label":"Immunodeficiency","primary":false},{"hpoId":"HP:0002037","label":"Inflammation of the large intestine","primary":false},{"hpoId":"HP:0100533","label":"Inflammatory abnormality of the eye","primary":false},{"hpoId":"HP:0100523","label":"Liver abscess","primary":false},{"hpoId":"HP:0025044","label":"Lung abscess","primary":false},{"hpoId":"HP:0002840","label":"Lymphadenitis","primary":false},{"hpoId":"HP:0002716","label":"Lymphadenopathy","primary":false},{"hpoId":"HP:0012733","label":"Macule","primary":false},{"hpoId":"HP:0002024","label":"Malabsorption","primary":false},{"hpoId":"HP:0100721","label":"Mediastinal lymphadenopathy","primary":false},{"hpoId":"HP:0001287","label":"Meningitis","primary":false},{"hpoId":"HP:0000100","label":"Nephrotic syndrome","primary":false},{"hpoId":"HP:0000155","label":"Oral ulcer","primary":false},{"hpoId":"HP:0002754","label":"Osteomyelitis","primary":false},{"hpoId":"HP:0000388","label":"Otitis media","primary":false},{"hpoId":"HP:0009789","label":"Perianal abscess","primary":false},{"hpoId":"HP:0011127","label":"Perioral eczema","primary":false},{"hpoId":"HP:0002586","label":"Peritonitis","primary":false},{"hpoId":"HP:0002202","label":"Pleural effusion","primary":false},{"hpoId":"HP:0002206","label":"Pulmonary fibrosis","primary":false},{"hpoId":"HP:0033608","label":"Pulmonary nodule","primary":false},{"hpoId":"HP:0002021","label":"Pyloric stenosis","primary":false},{"hpoId":"HP:0005224","label":"Rectal abscess","primary":false},{"hpoId":"HP:0002722","label":"Recurrent abscess formation","primary":false},{"hpoId":"HP:0011107","label":"Recurrent aphthous stomatitis","primary":false},{"hpoId":"HP:0002724","label":"Recurrent Aspergillus infection","primary":false},{"hpoId":"HP:0005406","label":"Recurrent bacterial skin infections","primary":false},{"hpoId":"HP:0002842","label":"Recurrent Burkholderia cepacia infection","primary":false},{"hpoId":"HP:0002740","label":"Recurrent Escherichia coli infection","primary":false},{"hpoId":"HP:0002719","label":"Recurrent infections","primary":false},{"hpoId":"HP:0002742","label":"Recurrent Klebsiella infection","primary":false},{"hpoId":"HP:0009098","label":"Recurrent oral thrush","primary":false},{"hpoId":"HP:0006532","label":"Recurrent pneumonia","primary":false},{"hpoId":"HP:0002205","label":"Recurrent respiratory infections","primary":false},{"hpoId":"HP:0002741","label":"Recurrent Serratia infection","primary":false},{"hpoId":"HP:0011108","label":"Recurrent sinusitis","primary":false},{"hpoId":"HP:0002726","label":"Recurrent Staphylococcus aureus infection","primary":false},{"hpoId":"HP:0011110","label":"Recurrent tonsillitis","primary":false},{"hpoId":"HP:0000010","label":"Recurrent urinary tract infections","primary":false},{"hpoId":"HP:0002923","label":"Rheumatoid factor positive","primary":false},{"hpoId":"HP:0100806","label":"Sepsis","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0000246","label":"Sinusitis","primary":false},{"hpoId":"HP:0200042","label":"Skin ulcer","primary":false},{"hpoId":"HP:0001744","label":"Splenomegaly","primary":false},{"hpoId":"HP:0002575","label":"Tracheoesophageal fistula","primary":false},{"hpoId":"HP:0100279","label":"Ulcerative colitis","primary":false},{"hpoId":"HP:0012203","label":"Unusual fungal nail infection","primary":false}],"ledeHtml":"Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. People with this condition may also have areas of inflammation (granulomas) in various tissues that can result in damage to those tissues. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life.","mondoId":"MONDO:0018305","records":[{"frequencyKind":"reported","key":"001984cc99168cee01c5bf8155dca3e2949f0edaf187714956fd918cadec8a19","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002724","is_excluded":false,"label":"Recurrent Aspergillus infection","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"058e234b8840afeaafe9f81272f6e676009f4cc9a9bd57a7c37a8852b0f435ea","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002742","is_excluded":false,"label":"Recurrent Klebsiella infection","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"068e49a45f3d7719f6347cb1df06db3e5033636ce84616e76ec5977b00b25dd9","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"1/7","hpo_id":"HP:0000010","is_excluded":false,"label":"Recurrent urinary tract infections","onset_id":null,"reference":"PMID:7795241;PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"08b7fdadef39e23015e55dab602dad94054a9d92947fd8c61538c41d260b4742","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000964","is_excluded":false,"label":"Eczematoid dermatitis","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0b42811a6e7be5e7b45e3b29ce62aa073d7fab03f4b9ca08c55ffde67063145e","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0033608","is_excluded":false,"label":"Pulmonary nodule","onset_id":null,"reference":"PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0b622ac846e5fd74bef7f8e2b82cc4de120d3a9534d843b2ac3e8ac49373dca1","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0005224","is_excluded":false,"label":"Rectal abscess","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0c51cc05e28dcd33a069755a5847f996c386b649191332a88461687afcee9d73","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0032252","is_excluded":false,"label":"Granuloma","onset_id":null,"reference":"PMID:30312704","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0c9bc88bdc4598e350be4f2897459818406adf7a1018afece5c9c5b47e2c08f8","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003206","is_excluded":false,"label":"Decreased activity of NADPH oxidase","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0dde700d9907f5f352e7e9d0802648ef271333595359a48cb6e409703ccea3a3","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"PMID:30312704","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0e39e8d657bebc4db1d36237d822a72ee73a7ed6a10632e9c1264de37dbdb2de","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002723","is_excluded":false,"label":"Absence of bactericidal oxidative respiratory burst in phagocytes","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0e40ccb480675a54fe5adaa640548477bba8c9c5aac93df99c1a04fd624db888","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000964","is_excluded":false,"label":"Eczematoid dermatitis","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1145f06d7dfcc118c861126e481353560545b370a50a53210125439aefe9f507","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003203","is_excluded":false,"label":"Decreased neutrophil oxidative burst","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"11676c450350629f6db2666637421c02fab18af6dcce92a22fbb43f72a04f6c9","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001945","is_excluded":false,"label":"Fever","onset_id":null,"reference":"PMID:30312704","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"16eae01bc151cadf853f4edb83ea14b0a8d79df7dcea212febe3c02d3589fb41","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003206","is_excluded":false,"label":"Decreased activity of NADPH oxidase","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"178a8407f553970cde710b76f384420cff01b075364f507a5a0bf6ebbff085a4","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000992","is_excluded":false,"label":"Cutaneous photosensitivity","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1884e94df0b4cc34caf9fa20db18da0ecc7ec865ace16c2625609cfe3038b367","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:613960","disease_name":"Chronic granulomatous disease 3, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0011127","is_excluded":false,"label":"Perioral eczema","onset_id":null,"reference":"PMID:19692703","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"19b3899cef58eb701af535584712be39be6df7de99339392ade5cd5d597e521e","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0002722","is_excluded":false,"label":"Recurrent abscess formation","onset_id":null,"reference":"PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1a7aac8a3e339708e7fa6c31f303e002eca908fe1d4527183dd109d3eeb483d8","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002840","is_excluded":false,"label":"Lymphadenitis","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1bdd9becffb6162e6df0fdca2870adcade90096d68686e2b7cd8ac9206fb7d3d","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003206","is_excluded":false,"label":"Decreased activity of NADPH oxidase","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1e289fd776d3ab85fac6fa47d7383eedff8b2c2285732b5fa626c830723f28da","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:613960","disease_name":"Chronic granulomatous disease 3, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005218","is_excluded":false,"label":"Anoperineal fistula","onset_id":null,"reference":"PMID:19692703","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1fcf0bbe52a3f3a20fe7641f8a1d549b8a3adaad1519cc9e52f66310e61b1d86","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0002586","is_excluded":false,"label":"Peritonitis","onset_id":null,"reference":"PMID:7795241;PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1fe628e2508b150a08591746a1f76e37ef149a01509689019bac26f97cfc0cb3","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006532","is_excluded":false,"label":"Recurrent pneumonia","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"22acc4da2a8ac13b8dbc79d60f86105e82712f0ffeee268886a7ee1a022fdeee","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000230","is_excluded":false,"label":"Gingivitis","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"22c628281b071ba1b2b0f5b614610ba142f7d294e282c6732d1ffe5b1c62b46a","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0003203","is_excluded":false,"label":"Decreased neutrophil oxidative burst","onset_id":null,"reference":"PMID:30361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2418d0b2aa0f5f390f8baf513f382916059150bf923baf75528312426ec50f76","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002955","is_excluded":false,"label":"Granulomatosis","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"24ded037009d2497df5a41cdaec9eb95cfb67eb00e6ba66aefb8c2e3f565eb91","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002754","is_excluded":false,"label":"Osteomyelitis","onset_id":null,"reference":"PMID:24991462","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"24eccba5418369f3d76750777dbf48ef881d83888e1988fcb2a44c853b6f1627","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002955","is_excluded":false,"label":"Granulomatosis","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"24f4854d053148c584d348071e50b174ea120f70a14f316d747237e6a70fbfc3","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002724","is_excluded":false,"label":"Recurrent Aspergillus infection","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"25b719584359affe7c153caa6ccddcf0b5dfabb3e6d5ba77401f1e15dabee8de","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002721","is_excluded":false,"label":"Immunodeficiency","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"25fadf21ca4992dc843814858b82ba3421a3ae3783298c54784e1acae8092be2","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"2/8","hpo_id":"HP:0009789","is_excluded":false,"label":"Perianal abscess","onset_id":null,"reference":"PMID:30361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"28237a88e3a3f5289a7429ef75a546ddf5c9a5140a3eb2d1d565efde9403ea30","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"PMID:7795241;PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2b3b677eb0b0f7e029fccc9d72ab9074343a10dde87aefc5fa28958043023911","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000964","is_excluded":false,"label":"Eczematoid dermatitis","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"2c1be28de8d68dc1ed4189015c20078ff046770eac19cf56d20d4f1dd0ba53b1","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:613960","disease_name":"Chronic granulomatous disease 3, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011108","is_excluded":false,"label":"Recurrent sinusitis","onset_id":null,"reference":"OMIM:613960","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"2cdf16fb1428f2f1aed7838aabdbcc488fe69a70ba011c84f4c40ef5310d7e08","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002721","is_excluded":false,"label":"Immunodeficiency","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"2ec669a4621f2f63232803a6366c7338cfc65242062c2d4a43aab4340d046ba6","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007417","is_excluded":false,"label":"Discoid lupus rash","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"311d11d3f19e222e0e80a133446202626aa9bc76c70569213d39bdf9cab2fd9d","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"1/7","hpo_id":"HP:0009098","is_excluded":false,"label":"Recurrent oral thrush","onset_id":null,"reference":"PMID:7795241;PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"32bee3f1dc39942f30226e3ae0bebe9afad4ecac9bac216620647d5596589e12","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001034","is_excluded":false,"label":"Hypermelanotic macule","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"348345b63411ed9956c48923121c21ddc1bba870a80bd753747baab6e342a854","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:613960","disease_name":"Chronic granulomatous disease 3, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002027","is_excluded":false,"label":"Abdominal pain","onset_id":null,"reference":"PMID:19692703","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3bcf22ad4af481b9d55fb99206382a9700c96728e32ae516e7a6f08fd5df4408","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0006510","is_excluded":false,"label":"Chronic pulmonary obstruction","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3c47b6eacfc211c41fbed704a4eb728a577ba52d71eda66eca82752f787873ea","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/8","hpo_id":"HP:0000155","is_excluded":false,"label":"Oral ulcer","onset_id":null,"reference":"PMID:30361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3c4f589c591d0f2731d26af4c6df10d6657b6369d87990bd7b78557e4b358723","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0100721","is_excluded":false,"label":"Mediastinal lymphadenopathy","onset_id":null,"reference":"PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3e8533987b8216956007640eeaa872b9685d56d5c7571b9d088aa9ddbf4c888c","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/8","hpo_id":"HP:0002923","is_excluded":false,"label":"Rheumatoid factor positive","onset_id":null,"reference":"PMID:30361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"3f3ca1bc74b1ca5d103eccfde7d55d9ad2a436f7a88867dd62d51dd9cc741210","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002840","is_excluded":false,"label":"Lymphadenitis","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"4366728af8235ad6ede36df6649815b541763af7bbe0f29398f579aff5201875","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"2/8","hpo_id":"HP:0001735","is_excluded":false,"label":"Acute pancreatitis","onset_id":null,"reference":"PMID:30361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"43a65e5e7c186e78e9d0f109d7af03903749367613abe47beef2b27304dd7f9c","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"47d302827a71786bab9bc29a4b14a7fe5c2521853fbc92c38d330b120c8726ef","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002021","is_excluded":false,"label":"Pyloric stenosis","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"49df1f526081af5807e0d123e0961722fecbbbea1b111347a8745e366efd2a74","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002721","is_excluded":false,"label":"Immunodeficiency","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"4adfbe71899b2d4da63d8ad147f07081d82f31dbab3c42b164a897da76303db6","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:613960","disease_name":"Chronic granulomatous disease 3, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002014","is_excluded":false,"label":"Diarrhea","onset_id":null,"reference":"PMID:19692703","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4e8ad18e42a9964bd1db1f0b7294d5bffaa65dedf34dd7d422aabd93c15f7a11","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002842","is_excluded":false,"label":"Recurrent Burkholderia cepacia infection","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"515b46a1fa81920573b61d62bfe65bf557d222cbca855831ac7240fe6d7ca0d6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002754","is_excluded":false,"label":"Osteomyelitis","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"515da1bc9f0dd45274091aab381a9ab81b485e6562b87bea7232d79687a8f26c","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/8","hpo_id":"HP:0100279","is_excluded":false,"label":"Ulcerative colitis","onset_id":null,"reference":"PMID:30361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"518de51f8dd31654041894b22e0c626be1261af40aa7ceaba95c5531590818fa","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006532","is_excluded":false,"label":"Recurrent pneumonia","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"53c31fded4ea7aba47ce2c25729ceb4ffd6ee34cb3840876bef6e863a62d10f4","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005224","is_excluded":false,"label":"Rectal abscess","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"544faca7744989004da088a3448016c246e7ad3b2c03d6bce13d44da08f77548","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002719","is_excluded":false,"label":"Recurrent infections","onset_id":null,"reference":"PMID:30361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"5450aed91a7f871a28502ef0852ce2155f0e79d8d2a8d4d04556215b2b05e8b0","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002840","is_excluded":false,"label":"Lymphadenitis","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"55f34bbe8ac0b9672be4ffbd8d93edcaaf946eb1204fef3f49e31e403b897748","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002724","is_excluded":false,"label":"Recurrent Aspergillus infection","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"57349a5fa99b4ab22b81966e0060668bf1d0ef30d3164167e69e196e2cd2d186","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002723","is_excluded":false,"label":"Absence of bactericidal oxidative respiratory burst in phagocytes","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"57668ceef38a69c11a012640cd2ab92340b92fe90af3af8880f3145db8665ee3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100658","is_excluded":false,"label":"Cellulitis","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5792649b16762bf55756afa4be0ef6fe10693158b930d800f67a5978889924c5","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002741","is_excluded":false,"label":"Recurrent Serratia infection","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"591d95e8dc1b964972986a014460f1d83df55193b43852905f07eb4ea7a3793b","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0200042","is_excluded":false,"label":"Skin ulcer","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5ac4146f18c645a338019817da71570f70eaa1bf717ec8f444da446cf98fe574","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002840","is_excluded":false,"label":"Lymphadenitis","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5d7eac863733178a69e06ec052f63847fa890071d283b05eaa0690b4157e9ad7","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007417","is_excluded":false,"label":"Discoid lupus rash","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5f42511eb2ca30167412b2bd4d3a861a1ee9156c0704c9cc6607302d97053055","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003206","is_excluded":false,"label":"Decreased activity of NADPH oxidase","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"621e75a004bcf3da72eaeaeb6af27ddcf7f9fb18eefb0f95793163739d79a0b1","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001888","is_excluded":false,"label":"Decreased total lymphocyte count","onset_id":null,"reference":"PMID:30312704","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"62ab52f1cd14ef4241fa53e97d6b0b8310ea77e662be600c620367d288cdee38","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"62c0522d439d55272ec13e11c901feb32a509a6ad792ef4aed6cff242911b3fb","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0100523","is_excluded":false,"label":"Liver abscess","onset_id":null,"reference":"PMID:18422995","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6349cb954d89649e451c7e10713bd189a63d26f683a5381f9da06207d9ff9dfc","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0012735","is_excluded":false,"label":"Cough","onset_id":null,"reference":"PMID:24991462","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"64e762c3b73264ffb4aeb8da225d6c8a461e6d687fc6af6c05f2ecb7c1115833","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000964","is_excluded":false,"label":"Eczematoid dermatitis","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"66083dd2b2cca339219b4cdf6a6945e505d99f91d34800408305a28ec4de1ec5","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006532","is_excluded":false,"label":"Recurrent pneumonia","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"67e63fe340a64294692a40b8a13296af649ed9cd37c5facc145355fb5554ec55","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002716","is_excluded":false,"label":"Lymphadenopathy","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"6ac97fa8e2ab8eff6efae63cd7641d9dae5b389a3efeb995d535baca06a284ed","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:613960","disease_name":"Chronic granulomatous disease 3, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0011107","is_excluded":false,"label":"Recurrent aphthous stomatitis","onset_id":null,"reference":"PMID:19692703","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6ad242942b6abdb23f52e69ca1e21e5718cec6e2ca1b6b120db1d5575720295d","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0006532","is_excluded":false,"label":"Recurrent pneumonia","onset_id":null,"reference":"PMID:30312704","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6b07d62520a86b14247e3a222b2d5e04862aa65258db9b0ed3eac54e04e3864d","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/8","hpo_id":"HP:0000100","is_excluded":false,"label":"Nephrotic syndrome","onset_id":null,"reference":"PMID:30361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6c1db1ddeeeb94223bd25598a8fda17187c9edd4f342df0032c8dcd98969e79a","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"6c7ab7ba77f85e8d310cce011cf20b143e9d5379a0859e54de2fba255558d8f1","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002202","is_excluded":false,"label":"Pleural effusion","onset_id":null,"reference":"PMID:24991462","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6ccf80321e3e16cff463624558f80837a2861a90965ea48c03dcfedcb2ed41c3","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"PCS","frequency_raw":"6/6","hpo_id":"HP:0003203","is_excluded":false,"label":"Decreased neutrophil oxidative burst","onset_id":null,"reference":"PMID:11133775","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7208adb05fa492ab525c77a51b8a483690c4496053bfed5430dd217ec0c7ec0d","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"PMID:30312704","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"7324deb6d64d3bda23766bb695a2bdbd4bb423afe3656a60588b4f7fc19db474","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002726","is_excluded":false,"label":"Recurrent Staphylococcus aureus infection","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"73691287518d62905a9842e37308fa27e42bfe339b7595411c7b3fa92f8d56b0","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002741","is_excluded":false,"label":"Recurrent Serratia infection","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"75cb0314c1fd5591cd6e8b4de961a43dfacf1f08a9e81a443b2d9183f3a6262b","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001878","is_excluded":false,"label":"Hemolytic anemia","onset_id":null,"reference":"PMID:30312704","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"797efc58ff8a7feaa328f56a793f94dabc6de2b9b2abd35c36b789872e78041f","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002719","is_excluded":false,"label":"Recurrent infections","onset_id":null,"reference":"PMID:7795241;PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"79e84acdc816ca9a338b0570ef231c987dca3e6044185396362bc73b10d9525b","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012733","is_excluded":false,"label":"Macule","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7be46ecace461b9c6546a4513a34423943238a5f5f00c0e71de147ec1fa5ecff","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002721","is_excluded":false,"label":"Immunodeficiency","onset_id":null,"reference":"PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7c396dbb18487aadfbdf8a6e5c10ec89f781c566ce9b7223460709c4b2f4974e","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/8","hpo_id":"HP:0002206","is_excluded":false,"label":"Pulmonary fibrosis","onset_id":null,"reference":"PMID:30361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"7cb1c7f3799c0e46948cdf7601824ed066dc810dad6f1c288ae09c7ee3b80b3b","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005224","is_excluded":false,"label":"Rectal abscess","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"82bd90dc620f3e232fb4484fcca9b3fe2ef9edfdd4553be93d847aae85224bf1","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002742","is_excluded":false,"label":"Recurrent Klebsiella infection","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"85605eca95779ce6a5964654dc62c8eb74f0ac6a2e713f66fbfb88320c0f89b8","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001945","is_excluded":false,"label":"Fever","onset_id":null,"reference":"PMID:24991462","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"86d6ca38411bc05bf8822ac8f3c5d731963b41acab79461ebd646109fe34b54f","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002726","is_excluded":false,"label":"Recurrent Staphylococcus aureus infection","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"870e52d7fd56f4498025cae68714d10b6fa6fd297f3ba4e5e426d673bf8949d8","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002955","is_excluded":false,"label":"Granulomatosis","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"89411aa46f66c5ba1db383f6d72ad70689cbf9a6a268d7a2e272a1016ac436c0","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002742","is_excluded":false,"label":"Recurrent Klebsiella infection","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"89472017c847061dfc412f838d57035d0ca9f41afcb503b26dac6d3ef3a5650a","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003514","is_excluded":false,"label":"Deficiency or absence of cytochrome b(-245)","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"89e6cdcf52755d5bcca9c928b627a176aeaac153d93abee2d312b0ced439ab4a","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002741","is_excluded":false,"label":"Recurrent Serratia infection","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8c7e3912473721530ef53a8d5e85bd4558adf72a1bc95dc66d028dbc367b0ff5","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005406","is_excluded":false,"label":"Recurrent bacterial skin infections","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8c91f9672c2777c504b521f30b0c7f25f3c4ec4dbe021bd9077d6b132d55d4dd","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002726","is_excluded":false,"label":"Recurrent Staphylococcus aureus infection","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8e72a0a1ceeab2fca68848c24b496f6a6e1a570d02d48790821f1d353b7e36f0","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0006532","is_excluded":false,"label":"Recurrent pneumonia","onset_id":null,"reference":"PMID:24991462","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8fa5fa5f68718a817b6c98288d9243c452756f1eafffd418c88537a7c1ebe584","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100658","is_excluded":false,"label":"Cellulitis","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"91f1ba687c769f2566c12f822bf738e3a41fabde36335af584a8de905ea3ae03","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"4/8","hpo_id":"HP:0100280","is_excluded":false,"label":"Crohn's disease","onset_id":null,"reference":"PMID:30361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"92aa93c7f6e5d90b79c1fe3db991c4879001863d1bc476e0a7526453db876e55","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100721","is_excluded":false,"label":"Mediastinal lymphadenopathy","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"92f8f66bd86eeda6a8c1a977a9215049c6ca0e070f48b2620de42b779352d3c4","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"PMID:24991462","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"958f3216dd390525f3c4d79d4d01f6ea06a40f8cde14a4baa1baa955bf6fa03f","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007417","is_excluded":false,"label":"Discoid lupus rash","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"969ace6c1171631a17103a8f84b4eeb05c388417053a25161de2261817112602","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"1/7","hpo_id":"HP:0002754","is_excluded":false,"label":"Osteomyelitis","onset_id":null,"reference":"PMID:7795241;PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"99e5b8b26ba9742faa8357168995dbd63908ffdd4709053dad31b2356f200632","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002955","is_excluded":false,"label":"Granulomatosis","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9c8a2e19dd0b5e327069d18a21218ae475b574c12dd2eb277d6c6369ed019637","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001945","is_excluded":false,"label":"Fever","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9cc8719d02d15a70c5c7a218a0453eca9fc0e609a1a406a1d7136250d929adcd","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002723","is_excluded":false,"label":"Absence of bactericidal oxidative respiratory burst in phagocytes","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"a059cec03717e2a582f8b8a87df6a1decd3b81f2029ee994c942f1697aa955bc","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001541","is_excluded":false,"label":"Ascites","onset_id":null,"reference":"PMID:24991462","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a2f28772bb6ab931306875eb6e86aba5a9b01623641d8842c690c48d0872898f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100658","is_excluded":false,"label":"Cellulitis","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a88029473cd8a8a433e09251df3e1dbe15b89c9850799569c47330f99ac2f3eb","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"aab1a086f4a02321a7bd3c5826df5ee581fb6b128209528f44fa45974ee264e1","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002723","is_excluded":false,"label":"Absence of bactericidal oxidative respiratory burst in phagocytes","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"aad81561f802318695c83beef9d98f336543f2dc18cd39a411d505a779f1d796","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ab316b8c9071579b5a71a820201c31fd9b7f304f87844b8100b6b59afd57e2db","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0025289","is_excluded":false,"label":"Cervical lymphadenopathy","onset_id":null,"reference":"PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"abdf087015706a6cf94dc86098d3ba7f79d39161443d6149f61dd2d122207c49","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/8","hpo_id":"HP:0012203","is_excluded":false,"label":"Unusual fungal nail infection","onset_id":null,"reference":"PMID:30361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ad217ce153351edbde5300b9fe00a8617755ad8b80103aff4319bdfbe9ac6c7d","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0100750","is_excluded":false,"label":"Atelectasis","onset_id":null,"reference":"PMID:24991462","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"ae653b49a57cee112e68ed9a8e245d44c34904fffdf9572d36cf40c020fe3821","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002740","is_excluded":false,"label":"Recurrent Escherichia coli infection","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"b36ef56fa9e1a00dde194fb1c0f79b831ddc5a0a974bc4d00ff3d318d5a69596","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0025615","is_excluded":false,"label":"Abscess","onset_id":null,"reference":"PMID:30312704","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"b7642d78be4746327ef8e9262af103e3f9aa7bcf87f6c8341eb3dc501880eda4","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005406","is_excluded":false,"label":"Recurrent bacterial skin infections","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"b7c45f3fcae5b3930fd76812707a680ebff44e470b550f9d9042e78e14982735","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002202","is_excluded":false,"label":"Pleural effusion","onset_id":null,"reference":"PMID:30312704","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"b8704a2ce04472071990a10017b4b290f5a342a982a1ae009a908cf56973421c","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002740","is_excluded":false,"label":"Recurrent Escherichia coli infection","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ba3619b5cab27c277426327d4b2f4cef2ee673e647c1ea7907b15aa8d0ee753a","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/8","hpo_id":"HP:0000964","is_excluded":false,"label":"Eczematoid dermatitis","onset_id":null,"reference":"PMID:30361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"bb1d6bf28a34e6eaac20fc1d3ffd9e1055c9a0ccf70271b22b0f1e0a852e119b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002754","is_excluded":false,"label":"Osteomyelitis","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"bc02dffa7e83e22843b7c6ed8cb41fbd136b8d8c04621f7ba2fd84e218c22b5c","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002716","is_excluded":false,"label":"Lymphadenopathy","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"bdbcd374cf362137adaf91300e70c78803823e2b0bf9af413e3da1a8b048e08a","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/8","hpo_id":"HP:0001433","is_excluded":false,"label":"Hepatosplenomegaly","onset_id":null,"reference":"PMID:30361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"be03d72584b5888974c90e93bdec5a9a25e128446b03e01b1e37170392db9a4b","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"2/8","hpo_id":"HP:0012390","is_excluded":false,"label":"Anal fissure","onset_id":null,"reference":"PMID:30361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"be75f4e55b6a7a37835671d40449b49f1bb35a4472c215afae40dfdda8ccad05","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:613960","disease_name":"Chronic granulomatous disease 3, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002719","is_excluded":false,"label":"Recurrent infections","onset_id":null,"reference":"OMIM:613960","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"be8094311debc892e09880864b8c1af91a08a4992e69a1345ebc978c6da2d0a1","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005406","is_excluded":false,"label":"Recurrent bacterial skin infections","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"bfaf5275a893ec6b2b9f3a4d8491af714dffb6c26c06fa2b54bc75c742b4b093","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002726","is_excluded":false,"label":"Recurrent Staphylococcus aureus infection","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"c0319e994910a061ef555ba7e696f33f5ea86deb5227b73fdc2a855ddfc95644","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002037","is_excluded":false,"label":"Inflammation of the large intestine","onset_id":null,"reference":"PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c19c583229096299d3a39240d0db828f6bfc6d932d297c176cfdca79101ae61f","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005224","is_excluded":false,"label":"Rectal abscess","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"c31271a30a3a03d549831fb7d7deabbb27a5f324ac7aa499dd4ec14c55b0ca20","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:613960","disease_name":"Chronic granulomatous disease 3, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003565","is_excluded":false,"label":"Elevated erythrocyte sedimentation rate","onset_id":null,"reference":"PMID:19692703","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c45345859636dea4bfdb5522a29d3fdd3b293aaf0d828531a528220291b321b2","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002716","is_excluded":false,"label":"Lymphadenopathy","onset_id":null,"reference":"PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c7a829eaa66d4c91af439ba867b74f9b6acb02b1db7f5f7577e5a893d79d54b9","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002724","is_excluded":false,"label":"Recurrent Aspergillus infection","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c8c107afe5c5f79b9ecd054bae62d1a22452bdf732fee28ae80a3a6c03725c0d","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002842","is_excluded":false,"label":"Recurrent Burkholderia cepacia infection","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ca5fd9ae730663825e5ae6a35c880748c8a46cc5d25eb343bae3795bbcdcb2f6","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0033662","is_excluded":false,"label":"Air bronchogram","onset_id":null,"reference":"PMID:24991462","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"caa5364ada0d6c07c8f84aaaf462361a41d6bcad64ac36e7023c33578007ea39","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002716","is_excluded":false,"label":"Lymphadenopathy","onset_id":null,"reference":"PMID:30312704","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"cb3896a79ac16b0f2a71398abf5bf36f8cd58ae138058f4c39c823af1345f922","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002205","is_excluded":false,"label":"Recurrent respiratory infections","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cbf057286414cc51a3634f95cae9e67c84f23c7db8433ebc0867b9568b761fbc","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002024","is_excluded":false,"label":"Malabsorption","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d19929537f509b36e9f22747db5ad504109eaa010f959a5dc0f9cfa398b10669","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"1/7","hpo_id":"HP:0005406","is_excluded":false,"label":"Recurrent bacterial skin infections","onset_id":null,"reference":"PMID:7795241;PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"d1a0f92b12f5a50fb4663ed725700487df7ea8058331c8b04f817ee40bff0e38","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007417","is_excluded":false,"label":"Discoid lupus rash","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d1adac3fe9407dd05f1b00f9cb402254b76fbb73f1a743de9eeca3334802ba85","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002716","is_excluded":false,"label":"Lymphadenopathy","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d2c8d95a34fad31ba828a4049ee8133cc3c52ab41e0e270cfd87246c95a3ada9","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002740","is_excluded":false,"label":"Recurrent Escherichia coli infection","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d582013ed14bd65ee2702d447d8f85404e9f1216fb590d4a5b8d0292f76fc4b5","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002740","is_excluded":false,"label":"Recurrent Escherichia coli infection","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d62f9881810e7aa5480f016f3548de8c0218ec5ccd3c3e8e5e1fa4adadb71379","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000246","is_excluded":false,"label":"Sinusitis","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d9d9ad01d0849cddcd589f8a607503debe79fc3b3a687c746992dd64d45ad52d","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0100523","is_excluded":false,"label":"Liver abscess","onset_id":null,"reference":"PMID:19329991","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"dc5c9ca602489864403fb2fcfcc3f0822373f385bb3f8eb9c321b688358840dd","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100523","is_excluded":false,"label":"Liver abscess","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"dd06a86393b54d3475828204e1deaffccd56a336ccf0c400df30d808540d6ae3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100658","is_excluded":false,"label":"Cellulitis","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ded7f76d3d91a31b891a4d1a1c900f2371332a12ff08386326bb5469384f5c26","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002575","is_excluded":false,"label":"Tracheoesophageal fistula","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e2fdebd7b3bbefcdf67202fe6a7d95e5b26d5582efbde860f259bb0685d1ab2a","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0034752","is_excluded":false,"label":"Axillary lymphadenopathy","onset_id":null,"reference":"PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e357a1d1fa408bc1a9db7f729418809b2bb58b4817378922cf3c1fe752234132","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000388","is_excluded":false,"label":"Otitis media","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e5a62fc3832ff0d5c379a13683e7c3e50ffddb6a286f8456009f3c2781816f3d","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"1/7","hpo_id":"HP:0025044","is_excluded":false,"label":"Lung abscess","onset_id":null,"reference":"PMID:7795241;PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e6125183262dbff3ac1834420f93d31652fd2b5f198ed2d148e0c58939d4a569","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001874","is_excluded":false,"label":"Abnormality of neutrophils","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e8baa4d50e6639e93a373a6e98d784721dbb1f5ce5043cbf8b5325f01417aebe","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"1/7","hpo_id":"HP:0009789","is_excluded":false,"label":"Perianal abscess","onset_id":null,"reference":"PMID:7795241;PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e99ad87c0302dbab46b82f590a8617104d8ae9309a8a9f12882f1a603c395390","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100533","is_excluded":false,"label":"Inflammatory abnormality of the eye","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ea3a5bc12baa22faf8bc655b49713d180e7d2f90bc9bbfc52e6f597b321dacfa","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0100523","is_excluded":false,"label":"Liver abscess","onset_id":null,"reference":"PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"eae46fcba255230a298e67c54613c00e9f8464059a1a71b7eb836d58e17974d7","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100806","is_excluded":false,"label":"Sepsis","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ec2ba430777a70260940c42fc78a39d4219b0a12edcf5383834ee9f716462628","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"eca867cd515839cb678d673b15106946b4dd5e99e940f3aea114c394ecf304b2","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:613960","disease_name":"Chronic granulomatous disease 3, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002583","is_excluded":false,"label":"Colitis","onset_id":null,"reference":"PMID:19692703","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"ede26d2966fec65b4cbce489e4922dbd3098be7c85938d5d92ab304eec49a5d3","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ee4da19dc294e14797d47b1ff0a9d179e088f14caa8b0aa825251e5b813fbb20","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:613960","disease_name":"Chronic granulomatous disease 3, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0011227","is_excluded":false,"label":"Elevated circulating C-reactive protein concentration","onset_id":null,"reference":"PMID:19692703","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"eee331d99cf8cd7c326967606059138d5196fdf9339059deeed8db7d768eef53","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002842","is_excluded":false,"label":"Recurrent Burkholderia cepacia infection","onset_id":null,"reference":"OMIM:233710","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"efe0c6b49e1f5938c1ffd94261d82ebc042da70a6e24fd4641a9b570cc8fda78","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002741","is_excluded":false,"label":"Recurrent Serratia infection","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f03cfaf5f738bcf1514e60f1f70abfa0dfb00c28ed52285d3d10aa442f79eb10","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:233710","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II","evidence":"PCS","frequency_raw":"7/7","hpo_id":"HP:0003203","is_excluded":false,"label":"Decreased neutrophil oxidative burst","onset_id":null,"reference":"PMID:7795241;PMID:10498624","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f0facaf08e16374cb3d0cffe1a68728149a152920f72bebb0a5c57c32f169f13","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003514","is_excluded":false,"label":"Deficiency or absence of cytochrome b(-245)","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f286e0154d99be7230e255b88891e14f0648f92f1ef985591d09880c35e9704d","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f4303594d9f92678b22d46132531d843f78b5e592e80c346ce956db6b8ac93fd","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0032252","is_excluded":false,"label":"Granuloma","onset_id":null,"reference":"PMID:24991462","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f496ffd350834d3abddd4f99c678bbbbc356948eaae667cb4f859ae45cbf0d21","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100523","is_excluded":false,"label":"Liver abscess","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f5f09b2d021fb47e279ea5f7503b5db43b29ccf3da218d464039da9c5c936ec9","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:306400","disease_name":"Chronic granulomatous disease, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000964","is_excluded":false,"label":"Eczematoid dermatitis","onset_id":null,"reference":"OMIM:306400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f7a6bdf0c1df2e163a0be6908956905dfc5ec0c244e6f1915636f07663320203","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0011110","is_excluded":false,"label":"Recurrent tonsillitis","onset_id":null,"reference":"PMID:30312704","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f81870a6564e96664cd406782df39f69f2cd5bfa1313780b4e9b6fda8a6112f9","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002842","is_excluded":false,"label":"Recurrent Burkholderia cepacia infection","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fa5a8cf0900cc3c3cc306373634d0b5239fcdabbe53dbb995bf7660c2c42e7f3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:379","disease_name":"Chronic granulomatous disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001287","is_excluded":false,"label":"Meningitis","onset_id":null,"reference":"ORPHA:379","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fc38b064c3ca7229de01af27abeafbb65d46e35634f2e4b233eeb0787027fa1c","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:233700","disease_name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"OMIM:233700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fcac747d69273b232fea70f9a52da5f4944c0856e089cd5365bf328b0bc28048","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002742","is_excluded":false,"label":"Recurrent Klebsiella infection","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fcb25aa6de033999a3cdd9c023e86f3ef99d7054dd56fc4f70d496647bea7a7f","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:233690","disease_name":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003203","is_excluded":false,"label":"Decreased neutrophil oxidative burst","onset_id":null,"reference":"OMIM:233690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"fe4b34c78db7b33fde7f096a701cb8c41c9c92149b397803d5acb07e788eb6e8","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:618935","disease_name":"Chronic granulomatous disease 5, autosomal recessive","evidence":"PCS","frequency_raw":"1/8","hpo_id":"HP:0002840","is_excluded":false,"label":"Lymphadenitis","onset_id":null,"reference":"PMID:30361506","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease\">Chronic granulomatous 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>Mutations in the CYBA, CYBB, NCF1, NCF2, or NCF4 gene can cause chronic granulomatous disease. There are five types of this condition that are distinguished by the gene that is involved. The proteins produced from the affected genes are parts (subunits) of an enzyme complex called NADPH oxidase, which plays an essential role in the immune system. Specifically, NADPH oxidase is primarily active in immune system cells called phagocytes. These cells catch and destroy foreign invaders such as bacteria and fungi. Within phagocytes, NADPH oxidase is involved in the production of a toxic molecule called superoxide. Superoxide is used to generate other toxic substances, which play a role in killing foreign invaders and preventing them from reproducing in the body and causing illness. NADPH oxidase is also thought to regulate the activity of immune cells called neutrophils. These cells play a role in adjusting the inflammatory response to optimize healing and reduce injury to the body.</p><p>Mutations in the CYBA, CYBB, NCF1, NCF2, and NCF4 genes result in the production of proteins with little or no function or the production of no protein at all. Mutations in the genes that cause chronic granulomatous disease that prevent the production of any functional protein are designated &quot;0&quot;. For example, mutations in the CYBB gene that lead to no functional beta chain are designated CYBB0. Mutations that lead to a reduction of the amount of protein produced are designated &quot;-&quot;, for example, CYBB-.</p><p>Without any one of its subunit proteins, NADPH oxidase cannot assemble or function properly. As a result, phagocytes are unable to kill foreign invaders and neutrophil activity is not regulated. A lack of NADPH oxidase leaves affected individuals vulnerable to many types of infection and excessive inflammation.</p><p>Some people with chronic granulomatous disease do not have an identified mutation in any of these genes. The cause of the condition in these individuals is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Chronic granulomatous disease?"},{"bodyHtml":"<p>People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves. Exposure to these organic materials and the numerous fungi involved in their decomposition causes people with chronic granulomatous disease to develop fungal infections in their lungs. Other common areas of infection in people with chronic granulomatous disease include the skin, liver, and lymph nodes.</p><p>Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. Other common areas of inflammation in people with chronic granulomatous disease include the stomach, colon, and rectum, as well as the mouth, throat, and skin. Additionally, granulomas within the gastrointestinal tract can lead to tissue breakdown and pus production (abscesses). Inflammation in the stomach can prevent food from passing through to the intestines (gastric outlet obstruction), leading to an inability to digest food. These digestive problems cause vomiting after eating and weight loss. In the genitourinary tract, inflammation can occur in the kidneys and bladder. Inflammation of the lymph nodes (lymphadenitis) and bone marrow (osteomyelitis), which both produce immune cells, can lead to further impairment of the immune system.</p><p>Rarely, people with chronic granulomatous disease develop autoimmune disorders, which occur when the immune system malfunctions and attacks the body&#x27;s own tissues and organs.</p><p>Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"chronic-granulomatous-disease","sourceDocuments":[{"name":"Chronic granulomatous disease","reviewed":"2012-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:17.659980+00:00","label":"Causes","pageSha256":"bfa03b7d8113a4161cb7f924d62f0c1a8acc542bb20717b099e3e3dc32227026","sourceUrl":"https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/chronic-granulomatous-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":"Chronic granulomatous disease"},"schemaVersion":1}