{"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:0009502/OMIM:245348","label":"Pyruvate dehydrogenase E2 deficiency","mondoId":"MONDO:0009502","onsetQualifier":null,"recordKeys":["1320b434d52a87a6546ed1cb96b57eb6e878df43e1565d808a987369cf07d4e2","1674ba78bb192d7db5bee960bf1429efc0c3f5143709cd2f64550beae5525877","2b0b42c29b391c4f8e35e780e8662767935690b459459a158dbe43b92a8fb81e","35d687ca59afa34961706988839cbeeb3c15de98bcab2d3fd6f45c24dcb0f8fc","47a23613c74211c6d60566388497db77d04a87302745c55d0f59c41fc5f6ab5f","571bfbbbc6dc5619ed1f87a8633bd16dbda2d856f1e7b397aafdc2b7bc010b89","57ef85ecf5fd30a8746328b9b4cbbecdeb29b1db7328765ca40587961d1dfd37","60d68e36ad29dd5e4b77798d91c2ff5af07e879699ff057d8fd2ac74ecee18f1","6df67b96126730beb956dfd6ebc0f4175cec3fb5e1e3674520965cadad14baac","6e9b4781ec08208d8ea3710a19360e8aa5f50312cd644539781d5d2c5ae5effe","70fa2cc0d41547343c7468753ad1fb824e327efa29e2e116648e418ed43b6470","77a5482ba4a8e6da5d861e74562ae4f107dc10a24bc999902d4effa7494de9b8","80bd8cde6df04987cd87245d23a465d2acb1bb40850c876547256355d0e4b113","875904a6bb21ab83b356edab7169d4af9f8123a9f3c3dffd090974a8290df5fa","97a90c25eb77b528aa7470be9cd3bc7422f1286386006094c9914553c8efc191","9d59bd70189a8609d3b1a94512f99459bcedcb3987768c33f8b091340c5438fa","a3b880ebca17e8d0dc59d6000d75ea532a8cfdce79613f2a145be851471a24e0","a897fa9dcec8afa01db52f7f0e90cfcac3806152dc320498b0a3e33fac41513f","b053e9714175070fdad95c2d31eb82c42a0bc547d5ffa524eb1edae3f6138953","b998e6d36d068a42d80a80e6b170089a2afc96111c533cf306b311128fc06b1b","c73c4761a6527dcec46adb1556a3db43e7ac5931d5b297a9c88fd1c6fc21d29b","ce0eb227f14fd646e6e41f0a8ff03503050919a053ffa593b20cc1f113e96d7e","ceef5dc83855c63e50207a558dbf4d6b637235402800a265c9f76a6f6c76a487","e1472651e03c0aa059836b8a6b6fa6c6bd47ff68b498e945193ae57ce1188375","f89a112eb44ec2d19e0a8193bc9907c0e9b38afc9e0d7c0ce4ce61673e63eff6","ff930aac0720ebeff0ead28655a4432ca0cdb52edc060425358aeec78bd9bb3e"],"recordQualifiers":{},"scopeLabel":"OMIM:245348","sourceIds":["OMIM:245348"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0009503/OMIM:245349","label":"Pyruvate dehydrogenase e3-binding protein deficiency","mondoId":"MONDO:0009503","onsetQualifier":null,"recordKeys":["004faa0c7b90ba22eb8b89e78fba9799073d68ec5a74365aecaaeda8d883b8cf","02b4f069810787452ce02e9546230820b9497ceedbb702dec8215a27b5e1b4f2","05515a4cc7b8c0e254f76fc0c9491e3f445360856e4d847b997a58fbe9502740","193dc99f48197830517cf3435eefbfdca8e8469b7dba0fc06efaa311e7f3bdd3","23677b81ff6e8cffcdb321e7f7ec2681e3894d8ddc1aa57434daebb28a392565","2dba1395f0064673d532527395ab7bb87cb13028e52247196e1f9fe3c5491cdf","47c3c74788da8c7e3dc44b15bddb6695d862531b1cd5cda604de819591d5ddae","4ac9ba89400f4c95a6a2486032f9dd40add7e4fd6977001423419f5528961b17","69af835ee29ba2df3e30df8756205e8bb84b0e0c26758cd6c6f05c8aadbd5537","6c11e51e36192be00bb4c7d1e1d58a885b6fb2ef1199ed0cf4b94855ef27ab07","79bd9293ba2f4b663314327866344e864e8d4943a148c452f9d33b6f52d079d3","7be64a665ddf8320b8db578592acbb32ce8057490be79ea8d4e7e70e0680d875","8dad59b2625f62f6e673dc119b3882311f76fb22a3c8ae47433498748611ce8d","94598745aa2520b8760913f598ec0dbc7f70aa740fec7dd83bb3f1b7d0d61c21","9751175956666523dc9232ba49b820015594931d229ecf8d75b16ae40c9a1524","9a79ba8277af71c33fb26d316be4293ada6ace74edfeff37d1c1e3635a5c9bec","9e44354a9e95ca93ba50a34f9c6c62566e9b28029367c44893cdd08b05851d9a","a0fb6cf77220ad912fc4207455e8754ecbf9e754dfc23c136c4eac3610ff6e88","acba50fefe143b84e2c44d7901a599f6e60506a54463b8f2871098fc259c62e3","af257c6405e7eedf8eec70a3037a419a3a53aa9f74e4e38ee030b78e6a38d41f","b01b619b01f4d10d281183f1acc158307c9638dba1a87d00b56ffddff6c6d74a","b5ebb4c9e01daedc799da957c64dcc76d510c040365b7a58f29e380d0db9927c","d75b2973307902aa798b37eafbdacaa0dafbe96628660326338d3d8b126cc1f7","e4e5569639c5923110d3ce86512dbc558f05b2c402bfc3931b0e465ae51cbac4","f827e3cc92849bb9c745a3765bca719527f155fb26997634373255c9e0078627","fa4ff7d7ca9db93a08c3fa9633c9043dd752ebf1344ffa50f43a522a4cffe75b"],"recordQualifiers":{},"scopeLabel":"OMIM:245349","sourceIds":["OMIM:245349"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010717/OMIM:312170","label":"Pyruvate dehydrogenase E1-alpha deficiency","mondoId":"MONDO:0010717","onsetQualifier":null,"recordKeys":["01b36d19b96511ed2cc721f4e5d92bc1557a782ce37108c945888a3e17c40f21","07bbaf671d06d8d31c5be2ad2689c7061657c0187e2d48ec9be9321a2e75767b","08157f91c60792045d3f4fbc7189737fee8f8b768a40e0a5aaf46a149db46688","0a7423efb7ace420a88e115b2f6e4e640b776ca3bd67699fefbd8c0313b4fe18","0e9364512d8cbf3c68e1aaf2e9c23ddb8b58e1931e952e3d83873c3d6b58ad35","0f345787d624beb8b9658f9d28a11639bfae0d69f9fee6f9626175ce32f13f0c","156172cca94a9492fcc4c05b9d7b8956aea68437e9067f1a58b86f8f10bf2b7f","1ffa444e097c53852b744732aab94ba373c692a6a023d7873d77d69ef0fff606","21940d3ac14f15c61b8e1511ee6fb95fb63cab54a171d8f6b631d60e84e431a2","23a77b54ee4a9a90e04a3e2758d49050df2fa3ff71aaeba8d1a5921562a32739","23dc6f130cbca05d3822f4822abf6b69c82620ab04ff2f983e08628913f06cd6","2f755844873bdd3fdf4d34566263465646e74782f490d517324a391c81829475","3d97e8befbb23b5d8531afcd8dfb076cd92cc1a119740ae76a9c451e5f18336e","47610ce0418c19b432934b76eecd1dab91368b5e5747b0cf6492c149c0359edc","4a647935d36730ddd2130d5a982ae14f55dafb70644039c26af680747ade93cf","55d893d66b84fd6fdf7595ce6662e2d6c9c7d7be12dcbacdc1860cbd7930c0dc","56d4899f58293b57196e3f09eea6877c3f0fdfc8768c9ea90b8492618d0e09bf","5b988570453750a63f9cbab732f73a1120a41d504a331aa45d742ce9ca1960c2","5f79a5d630a5fdc7f1ad8ec235246ff636bfdb0c247d508105edbe1215692d20","678aa53412cad63313e99328e63113ba0a9a4ab71f803bb7ae5ca2d25296fa67","71a23338b782e216da92676353bf41cc74bcab116df8480db47cc4073d2a15f9","739743d8d72e12b4d98f3054361ce2a65874db2ed2ac84304447c610602429a0","76e4fd548dadf1bf10c49fd5f9d9822e1c323df6ca75ea8a40c6fbcf05ddb53a","8142c1867b68e48d185ee25f0455d996bd19751dafd8371ba0b6991110d1d05e","8149c4143f7235bc377113af214bf24b8ab69e39a5f8d71eb2a3898bd5450e75","8aaa19ee3d4ba5490bdf0d550f3519820e00bdd62d8f6795f0a4bfc2e3fd4a67","959e55c5995650c77ef3906202aa93ad1f5470aba1d1f10fcff068ff6e505abc","960dc218871d203ae7da3fb22af5446f0ff8df4540e53d4fd3e8bce5daaa0170","a27ee899434afbc495d8543ee7285c47f021bc8bebb7878355ccbc05b677020c","a4808a58a8bf060fe3c67a91e7628d3809ebcd26328f92f7d1a5ea5756fded76","a7bfa71d61e18a14add1bab62d06c01103894840fa1d054c4820902d422d03af","ad13cc5ff796036ae1d6b27ca8adf1eca16a6dd026db99b9159ab00ce4c1833b","afb652378b5a8184f8251c2010ea4d9c296166be7f68c70cd9cd7c6c300a5c55","b37f98d49d5e3e406071132f9faee08a89c9f371933837b42e8d25784a07194a","b5e26858930777c685ae64c5b301b0cb0ef11bbfc00d66bd0121b87f51934b58","c07a0ab700f7f3c1bb92ea01d8abc1363d834c82b8a7934155761c6d6e0bc4e9","d34797a8e852f4c5f4074eddb98845c4e60a0db34aaad26f57a053654b7dae61","d632d889b506d2c112869f5f8b33916979062896fac73c8c63f178964a34eab4","de412822e1d62343a28d5c66deaeb479feda0534e0c49a08fb9227f42c1b01fc","df841d9def738f84e21b9e104855f528ce40db93f111f8a660f9a740ee9ed397","e47af51948f4c2e1f2cb74a59e49da17f6bbf416900b94488ae04aa2d89a9279","f17c74f66a59c8262d5f121adcc91c38a2d07a47e15073ce2879c2af6f21097d","f1eee2c3ae7f7ae9b55bf851542fb42ad2fe948011e1ab9ab54a8e12265d4a92","fca48e86364f3fdd4f7e8a60c7facc74be71a9e3a97fd1da5d9d33146c8e9e25","fce26223c232ed4f2abd5084dbd1da06de083b3c4e989242dd8b677986194108"],"recordQualifiers":{},"scopeLabel":"OMIM:312170","sourceIds":["OMIM:312170"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0012120/OMIM:608782","label":"Pyruvate dehydrogenase phosphatase deficiency","mondoId":"MONDO:0012120","onsetQualifier":null,"recordKeys":["2793e958cf918e32c41186771a0513536f2e1dde9f77b71276ad3b25696a201d","3b15aaa77ee328afbff9f97f29c6648bdb94a3b077b4f23f7d77d1bb2c0a992b","5de416621e35767901d55d551cfef51a3c28af4ec4acc43f86a606cf8ad60dc1","61a92a656405170a6c1504e38d5cddba871b38cddb89f970c57d5c77b25120b0","63d7b97f43fb0618e5142a950f41a5bfdb86ae8f79cf715dafc9ee0a126e7e67","6f7efcab8791c74eaa91edd4b03ee42b3e76cff4bd90310aa5456342bee71fe9","78bdb1cb1bb26385cd0e0f0b29c743cdea882c161b839f5db6a893eeaf4763c5","903c290fe0a3470784572b021e5b29a4967cd5bd23f0a5a3c4a45048158a6324","bb662b603cd79a746d67d5c49fda5a7fde8b34420eac18302b992d5683b41417","bc7772b3497bc8b82500cc0e31c7ae6d575c603173d2a35b1da4303a2ff59d69","c33427499227a31939d6dce5371ddeb167325b12abb447a9c05764d41d37d33d"],"recordQualifiers":{},"scopeLabel":"OMIM:608782","sourceIds":["OMIM:608782"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0013580/OMIM:614111","label":"Pyruvate dehydrogenase E1-beta deficiency","mondoId":"MONDO:0013580","onsetQualifier":null,"recordKeys":["2cdd9fc0c980f4fa64a11133b4f8a08553fd328cf8ab1bbc85759e32c25d3171","46ad29bdc89c2816822d8561748ceac8a9131443314288445ee2e774e0687847","567a41c631ac69a6bfc0acd1c48038a31fe45a981c769012f8746ca853f2ceb3","79cd482ec691b88a176da05437720e76e1e208b461763b03e20a5b67af20191f","83f38546b658cb703ec97e3668bdcd7f817c6d6ad476bf2bd3cc7015869f8afa","ec6f504a3cda910df09d9e72ce023c43ead0c805feb6999257ad7c184e8acd70"],"recordQualifiers":{},"scopeLabel":"OMIM:614111","sourceIds":["OMIM:614111"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0013762/OMIM:614462","label":"Hyperglycinemia, lactic acidosis, and seizures","mondoId":"MONDO:0013762","onsetQualifier":null,"recordKeys":["0a3292d66dd16d18f98f19748e07f8dc8c4a53b3a40ae084664b1e5f82b55f87","0b06c37b2b3dc895a250f69815a915fd956df9190f060082213a4df871c88410","15b440bcc9efe06f35dc15a51b02ebd00f82eea2b24b42bda28be15f8bfc88c0","2efe375ab30d1fd40df8679976429a36fd724fcb8a405b2ac7cf98fa97df2cbd","3c852d186637a5b1131d6cbfe4c2341866da65562def31da614eb090ffe7bdbc","502c3fb22046391d17c175611c1e98e00002ec58940cde2af1d28290f59c619a","5667ad8ca97e567d3a92d8dc0f89393aa9fa668330dda0a6e44b7b8781de583d","59de3d886c672df1030d5e6951bf526ec59e658f24e38a237fd8643e8799eca7","5a8cc1b3553d4b1bccb9f602ce9c4f018d1208fa88c0813a222dba1ca33b4521","60a831a98f3fd61b9e49634da314a5af2d8373dc6c5adb74b94587a31d12b0da","633eb0b3a89edf35c53e3fdd58ed5a268c94f3b92e0fc90c54e091e6bed22acd","66176868d5dd857d07a064f1fc02cc5d5c9fbd26f4aecc706fdea19adae57740","6e05330a4e6537c15b6a845ae3b5532e34b93d6673007e1815deedb3768fde14","7c7dcad7a60314382f4f3eb3d4840b0aec89ab66a657f88b9c51146d8eceb4b7","a545eed6fd4b59f3a301ce2db1563e22e815246f3460ce85b4bb98c5ff93633c","a86443cca7bcb7157b16a205639861905f2238bafab8bd953bfaca3c5f19fe3d","b76c0fc722a03a64c18beb7a9894d62d3ea27dc892d1eae9df33fabe6d446deb","c44d9f040a808ae12d6c21f89933a6c70cf31049bbd93f2f5a49e51b10ec0c57","d6c8f005ea8601a66e7208490c20fb7bee6e886c3f41fd3ffd803b6725a4fc4f","dc147e574e65036350d0f3a853bf7dfae606c26493cee0005c0e40ffa3b3609a","dc3e10e50c47a3fe07e022a7685934459251b8a0c221c13e92ef8418dd3b02e7","e46c7dca7c2aed9acf726b53c4e9c68b8bd21e461a7fea76d76752a7394f5a58","f7c9ec76626f2476c5e3b66836154acb7c79551c8eff5677b43b9e035b7e56fe"],"recordQualifiers":{},"scopeLabel":"OMIM:614462","sourceIds":["OMIM:614462"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0013580/ORPHA:255138","label":"Pyruvate dehydrogenase E1-beta deficiency","mondoId":"MONDO:0013580","onsetQualifier":null,"recordKeys":["0104058db1068935460a7679d92f2b9c37a2492308a71590acf90bc937f9c1bd","12bcf19d38be1ca6fd1925bb08a9c721eba6792ffa143a23c3bcca8606782080","1369dc89c1ee2358ff1f1236915de52033011c2035eb5c45cc7e15d0f3b66e6d","174c8941eb5733ef337d855312a45593a2ad58f22e1c793d8344913a3c7eb68d","29f4534abed723840925bf8941a973e1848f1a28e00bc48d1f65910849be51cb","3b145faf68e29db9f5feef99a145b998e210bec46db72cccc20fd0fcfaa261cb","3d4ead8042029eefd3d840ecfff3b6445d4e44999073787c5d65cf4f1f6897ac","3eee1563719f785f6a81388a73608f4efee78d1ee90e980982fbcfc449246b77","59acd42c1cf0475734374f7b250ee7e31833e99547d9a440feb43e539af5077e","5fa092642ae4170eefcba30383e53b658b77bee443da76eafc8987a42ad1c293","6e8e89713d67726ddc9ad54462845684c6618e605a27832c14aa2386f2d48c6e","6ef0f8784d032d62e113982433c8d60549cd38a8c433652ba53cc98ce145b0ec","743f9c509a4580603337faadf426960cac90500ea1f2143efdf6041ec2814a23","7d7e2edfabcc53df4f41c12562ce045a0dcf1d8f81040815592eb781772ade7f","8489f311bdfe7ef39a522db5a8922ced84e886fba35e2a080e8e41d0c5daaba7","85302e7d7ebf81885c96c363c8409cf23e77fb89bb8e614cdd15b0fd39ca7bf2","9901592b3dc3c2bc496c35c246739dc4ec60defe1d95a29837fa60b97316ca80","9fb4a7189241ed8db6aec8d4de20a0fb873bb65719cd085a8a72df774837975b","b26d65fce5be1ae45deb985397b8236e1a3d889e7a2083d5092c32bc83d68e5b","b3d7ff3550c489949458f8e20b4aff5d70eb16cdb071be7c19d2d4c6935b45d4","b65c8c4b5d2c90b7b79a29bb688b1cc25d9de76a98f77c1774bc1e0ef5d88b86","cd843c9be830bf5764932a3f5f134cce100f02918f184662f664815e0dbf1be0","da44a5e784a6ceed51e4f6c10236387d0c0e73441453649e8084a02c8c8ea2e9"],"recordQualifiers":{},"scopeLabel":"ORPHA:255138","sourceIds":["ORPHA:255138"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0009503/ORPHA:255182","label":"Pyruvate dehydrogenase E3-binding protein deficiency","mondoId":"MONDO:0009503","onsetQualifier":null,"recordKeys":["0baf0a6377bfac2282a2d9a65d39905e0360b5de4fa2d7e246656cf4bdd37b4a","1334421c5583031b203dde19ce2efa5a41b5240f4cd8f7c7891832ad151f2458","1ace508040d5178a113a676355913ac79176aed94463e239c81687e2f8f687d1","20fbd5b3f62ea09dca403844e5ba49d69edb8fdc0452834e2fa4a557be987a4e","2f9ff731fd803fcd958afcd28679a36da3b187d73c691f5340c84a5fa852a717","32ecb51ffde1008fec60f9006d33ca43455bcd05706ad559e313ca9241acc120","3d409b984c66802823d078fe847494679b43f7d1630d62a17bb6a3428832c566","49288d2cc365ad1453c36b488224b42d5f50500c7d3768f84068b1fc6f225960","5a08e7bb1d4a33bac04eaf54a6ecec43e8eb4da41cc3cecde98ccf2553bc35e2","754d7bb2b9945056fd3570629b21458c4aad86c814c266102b8a0700678976e5","7bedc5a3a6b7539dc1b69a164ad8f963ce9d3d0772d208b2de8cb55ace60aaac","967aa214869ae3ab802458f45a1067232ebbcfda55a1fc8654e081c1cf4a0caa","9ea25760924b20035ee4b810321bec7ca82eea9bd4daffaa809b9b35434da58a","9f4721db16080e8c12751332c281a29c5a7fc64f50c0571f78e17ce72cf9834b","a178c54113b15e4015af21973419e10bb02437eb3e2cfcc10145a7599ee3e0cf","a81725b92b670cb07050ff3df9f23b016a5a14391377680aea73f228942224b3","ac7b6de5f01f8adee6040a4921efb170032fb795162067e2e5316737a168de2d","c6cfe58154454549f1febd656b0f2b70f5e564593a0cee428bb4ed965234c183","d065a3f73292081def5e786be407c3d3363c25b423efc36a117dbec04c28de2f","d4e57aeeb0a03beb5a5bbd9cb85c2a913564809068568ace4fd78b809403219f","eb8ed38554440b8e0f77106c248b15df86a8a275e2481b17935f95e45e09de6a","ee12f535d9830109d8e6e1df977cecfbb6bc160f1734489bd912f203a28921d2","f220987557d6caed8d0ff8a3bf09568198c0d3a1164fc8b3eafc736f702d7d81"],"recordQualifiers":{},"scopeLabel":"ORPHA:255182","sourceIds":["ORPHA:255182"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0019169/ORPHA:765","label":"Pyruvate dehydrogenase deficiency","mondoId":"MONDO:0019169","onsetQualifier":null,"recordKeys":["010ce44892b269dd817d7d5e7cd7a696e779f08d69c5134a06e7fc4b0ddf1a36","0a7414d67f3294424c81274fa807b32ebdcb38aaac1277061550199754b009be","18d2cc556027e3d9d5dbb70e2dde2fc2a388c9b4756f51392b1556d53f46de77","1aac5741b86c31ca4b91c970c03b758814a80e02476bee393f4266d225c46543","1d0691db73f9e5b8e20e69fcb77398aee8313c109e3f119dc420743da076d607","2c69f78f93b1c40b0800104406e5e37f15b7cab738a1c6a9407b496cf1955efb","37c85d112cf7861572d34864c803ed55155a0d0782e10a049771a284d65599ce","3bf1b834c34ab036f77339665fc49e8234031bc7d11bb8e328d43df9dc474798","47499dd1ec689483b71c30774c6c7b29e7ef99c20d65f164881beb53d16ace99","556babf690c24e31b323efb92c1b449352e7ad9629f32885ed8ce26c360cf67a","5e9ef887fc5faca9fc38eb652f8b61f61756bd177156d0f5dd756f8f3852f7ae","5f5e64aee0359f420317e8dc35ede6f4b27bee0a237c24a652aa243382a65454","84fc5f1ffa9ff3c381ef5452b1e785844ce1a0e52864ae329828f2686aeadc13","93c735c910c7a3e24158312d17b1c1d76b07cf82f3cb5bd5d5eb0204dbe63303","96b47f61f4b462fd461d2548faa1c9933e58a7eda1aebca4b2710692b67452f5","96ba4fdf2ddcab1c055d398f95c0f9de3cae647c21e934095509ed869b0b35ac","9ccc3eb31c14e089bc5e37d0078f97723bd9fefeb6e82b175c88fa3888656b0f","adf11d77b668f870ece63b1b6b23ec216dae66a623fb28c8c9dfdce0de93c214","af5531a758b467615e3167f09adb037eac36218782f36dfd7a429baaa2687d69","b170c16b208980a659b4e0355aab64e61d4246a2113bd12f4e7704fe47743ae1","b4c181e285cd3f19acb51381542d4e3ac1823f5ca791d57ffa54a987b84133f2","b7ca2c39beea664815f03d403189bd1bbaabaf9e8b90d5e26dd88eae40d8c3d6","b993912d0f6afeb39d5d4a7192b0e719f3bb10d9ffb183ff2ac47bfddc5e9933","c043738ee3367594a20e2294c11dadc314b63c643d74dd95d41c96a7ec84ba6b","c237b517d421b0c529c9d4c4c7709f858767b33a67580206419723a92328b481","c74af3d9e6493c89c9733dd3f0d6c14c0b65409ebebfd78bf23fb3e5e9f8911a","cfb9d8ba84b0a14f5ba2ee5ce84880533008a7d50a3d420190317a456cc7caf4","d6a11286318fee32dd08b620e7881a14517112bf1324229d662384bd2b1070f2","d87f3319296552e09f9c1e7a941bbf566c39ca3f7c08ce50372339ee4249825d","db8ee63ded0b72678ad2ee13285607e302254dbf45c87fcfa8beb4ccfe0bc14a","de0079a5d019e8930399d14f502e2ef14cb26b3a9921e6564a1807ffa9be9cfd","ea04a10886115d6bd36875d634fe413cb78e2175668d6ae9015df27f840165f4","f012637e7fc42a36147dcb748ed7485bca3e59ef10c1ef88e1dfa4ac99d0cc3c","f050aa5abac7ef476cdc694fde0799bc948728491e629fe3cc33e4fdcf652096","fe26ec68ea5f3ac8b31973c60c5beb5c5f31775433fef26a76e52c9915851a79"],"recordQualifiers":{},"scopeLabel":"ORPHA:765","sourceIds":["ORPHA:765"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010717/ORPHA:79243","label":"Pyruvate dehydrogenase E1-alpha deficiency","mondoId":"MONDO:0010717","onsetQualifier":null,"recordKeys":["0b77290c1d5460bb89c915915c14301aa0841fb93d308b3ef81cd3d6025d7ed9","1655a79a61f42df2593a5376f68d3473fac702a4796a425ba721601f179ab100","17f12aa01518ce3a5ca8c64f76e2ec7cc3e5c1621eac5c0dbd6aa218a6b40eb5","1a887ba96b57ac89186d2fc051eb79b03dd6be5eb3f7f38a2d58c19baa18cc27","1d97fde6bcb318df208bccd13916317252b83913123a00a68c7d1370d42c228e","271e684a3c07fa91b892973d406cbc405b382142fa7a8aa7c078a5135c3fb4a6","2b5c14cdce721225e88bec133ebbfe729e717526657bdf4dd9d587366a3518d9","2c277eb0606083a62249c5efa4ea54c160d443c58fa7c2afce8ef2b6ce1ebd13","357106131bc03a5b75e66fbd2bfc5d200287ed910506adcc4171275a94f74f05","4255a9489472df24352a60233379c655d8f9f635a042f47387ca8290af8c7188","48438c93478ff4542c584fa7759445df93ea97ee9bbdc0965b0da6e623b873c3","4f04327513c19682509bb80f470192984d6a94d39f53cd6d0c4cdc0aa834865d","561f6c5b7b24e1892f3e5b56107f785ee518f59233c1e0f97ca01a111f971e55","5c430f76bd0497d7a769c4c5b136fbf67cc54da3809e8188bfdccc77dfc01a4b","5e04df37e67f4f8cbff17b41efdd1c518b8cb7c86850f9409b8e5becd09de0c5","5f3bc231bdbb11eb54938dc33cf69050d8f1bf9130859f0ecd654be19f01ea00","5f560a97a757ee68bd6d72fb82f10a3c5aa84fb9f66dea37773715699e21a3f8","60a0128569a9e4be9175c9d1b807380d81bc73c0a27232c5f8038ad36d1039c7","60ad71f09d078388c1b98f3894cc4c2ad7c1be3ced97fa85e88de11defd172d0","61508e0ebc174af1833197025c86264d1eff07a59cd9a860446a7071a80eadc8","689d94e9f19b50d8f3e2cc908bd4e5baae4b03bf95771e7074cb77123340fbbd","68b7ba8338675352a25a18561979dde9f8821b93af03dfa80a611ab4371866f9","6b3f5b74529a1d049362c545f26ba022db8c0409180ba197224ad3e4356b029c","84b2e18d806dd48e4448b3faa1e3491b941d8a9d78cf04dd60c8370502c8f3dd","84f8bb4ff21cbdea0a742fb62e0eb112d02b72dc402e6116b9b46c754a814539","8d33010d07c301f5173060b2ecb0884fbca39619ee00bcc7b6ae009741545bed","8df71b83238b514881eaa2936f2ed87ad0245ee5759962556dbe61bed171a82b","8fd16fe7c2dc7cfa5c8d5b341d22b229de61c3339611716de2bb8c987b5309d7","9bbb1da95113108ef5eb6b6a47013e796b6a40a086ba549b901247f7fb9d7d80","a20e7e95f85c564996c1578ec84effad2ae59cb5af4f7b043f05f4cf796136ec","a25d7671122f6c8e91bca97b8a8e90cd05d10151c63dab6f7d2c2c5f8b28bff3","a2ee9b676fdfdb4d3593aaed200ea79eb114a0325798ff10d8176881e2a04f24","a404e29606405b1b632f5e520ec05b822e16b52d9f3f0f2fba034203f4d937cc","a4ed4a6db6c57212828d8dbddaf04967f2f14444bcccfe7f321c49890bd55a81","a90e31670ed6b2d1c9599aa88872fb28b3d63e35e1ad38631ae829d7f5545e88","ae6b17870ca45a71a94b9a35a8c2e9f59ac656586c90d3d00f76a3462f1d455c","b0fa2e1dc977d2e2bb76f9b46fd06c7f48085ba42dd0e4765715e4f97e56de89","b1f0668743f05b18efb2f85c7edced2fc52469e289183e76c9724d43b4bf6f89","b413998a72838eb892d169e44656613811b58df2af15708c999d67124d4c8c78","b7fbfd93e432883193fcda0fe8589cfaaa1b10b78b23b00d5bf68feb7ae75b31","be61dca899e4eea577ea7ca12eb9de09cf8dcc8cb79697a4230b2c09c672459f","be6c569fdf68e2266cda8cb85aebbc73141dd7c696c34f3269651c1904b72331","c0cd8e2015af263f76884d7107edc63700c9896f308eab44b69950efa9083a3c","c2ae2ba694d0c9cb5164052d4155d0e851781b76dc970a7b79ec849790d45746","c7552ef6ca71a7374ead9a100542b9d1ca19f9205ae5b34a78f55ce437df1419","d7aaffbf987dafd2d8a00a2fe921a4734cb8467d27fdad4fa329c595347f98e4","e4ab5a57deb513aa1e2bbcc0a6b1122d9e5ea58393a50a7c6f10752752058b86","e66c5b7b699685e5e287d8e675d2022b5c18ab8f510205658dc96b78a291155a","e83a0bd43e05887238fd30185ff66a0dac0d318a3e5416f45bf67eb56c012cd9","ef650ba23ae5653392fb9066f20fab314c5e700dfe46b22ac3b17a32cf4fec4d","f0e31519cd10fdd5c73c8a4d1ce8dbdc12388998eea3114c8494f3ef50054c21","f8049e37023856768b86bfcc02caf8eb5c669163f4f0affbe7916c9bd8164add","fa8d0a362201bf8fb7a8e6c40183a06eaf402491011c889e040c3963b13e80b1","fd8698b2f67cd8424a35cad87529bdfec5ecc4bbb3519a3ebb901e9f20823cd3","fe5935598ce0f93e875e4612b37eb4acbff16fc9831f92bd63bf501703d6b9f6"],"recordQualifiers":{},"scopeLabel":"ORPHA:79243","sourceIds":["ORPHA:79243"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0009502/ORPHA:79244","label":"Pyruvate dehydrogenase E2 deficiency","mondoId":"MONDO:0009502","onsetQualifier":null,"recordKeys":["0d22dc4f1e3f623c94160f03dd11a6aaf825bb88bb12bcec3fa68c3906c21f4c","111d9a396e3e9e396e3f7176993caeb7c01de6342bd9f89d29370e7f3cf67ad6","160c14612eb019dd3df587cc938045d3435dfa1027e3f6525d6210c8fdd93d56","3030d667ff6c4cea916500b6b0b087595c2d93d555e553bd711d20b64a1abb24","32536e2e98591bed8eb597e80378ab288a3ca7e5b290884b2e3c51f1b6a8966c","3ce32194fa95860d5c6463dc6ef59885b29af5a4fdab62fc9e4e4b2e32caddb4","502a11420f31212627e7b461bcad6de29d97783808b318d5fe18ac64403f6e99","58ac873aea66eaee063443ba1bed2f3843db3304dc77a8dd2e87a420dc4b76db","58b8641ad481f44505e9f614e10f03524c10c5d52c6b58e518e190589661723b","5ac8793684e88354ec6d7d2d604439bd77c1e8e15822385bf51df1fa5dfbffe7","5c5968e13782c389af0f77833d4d9b5b96a3c44f881b6d988183494bf71c9e2f","690326ca212bdfc2d5ef87d178aee4151dddf49db155f03d866d698227f9e1af","7fe10d6d37fbe15ffdb552cd8abf67d0d9c2b20b7c5016cda35d0ef5877bf5c8","81b273cdcc20246a039295d64de4ed2815b5a422ff0d41cddbb8bc6c0437c2fb","868202290ab097a49c400d653ae1ad79bb2f5f2cf1ea1ca32942a11232a2a761","89d18a801d3a719b7df47a4432ce533607a5b9da657757947775f1a4ae3fa53f","8c7956a3bb04d12aff07446d4fd96678195e8279e34105d1917780ae39dc4f99","9a6be13dee7ddff60294ffb73902db2e84bf2f2c098a3b48c9f0a530653de302","9bcf033ef718b7c4fbea8f03fb3f574d00635c6a8ad01c3686c70713537ce37a","9f5542d6b702708491bec21e3ad0f0750029b2b0e181813e8e20d0766a5854ab","ac0428d552f0de0ff32b14755a92b3992cce3aecfc274ed9bcc6897f186eb638","b8c085f76f79fcab6ab21c44080b4e658c41a8ae6239d2c0cb755e0a96d7b212","bc2cb3b8738249fde5b0144d449fe16e8969436c004635446f3186862f171566","bf39886558bc8867fb7add80c5d8650b203255d93aff24abd13f8c5868f54ebc","cd2213b80012ce858c89c6d2659914c5c7fec6c184b8eeb5bda6203f11b825d2","d1fd5e08c1a25f56d4528fcaa36a913891075a98a0537878b74694fa7f1d2ddb","d279bf482c21d89b4f658c735c8542b7145422219cd25482a202cfd44d9fcb81","d5eb0b145cfb594b4d35d878a5711f670118a3b89f75def16d89df71a5369506","d88242f2ca8fba283544adb5db0db071c5da9ef946a32a147b79e976e92b43b3","fa79266829f53a3ed2d8ac573e21c2311141e372b418b65a8ca800a54214d266","fd095b5e3554bed900817f13f6db8a412918968818641c07218b6ac37a547ef1"],"recordQualifiers":{},"scopeLabel":"ORPHA:79244","sourceIds":["ORPHA:79244"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0012120/ORPHA:79246","label":"Pyruvate dehydrogenase phosphatase deficiency","mondoId":"MONDO:0012120","onsetQualifier":null,"recordKeys":["14898ec1739e3533491529c2ddd8aa4523b75aaf971b0d879651fe9c00965c44","219d8f70ffd8e61c31b645d213e6632a186bac573d30b3eed6e1f39b1b8e09a6","37e80939375cd0d783d62bcff8509d2e7a46747c93078849cec696d1442674d5","593ce0db867ab3732f336d06a89529fe841356e916ccc53c9db7958fb6f46645","5d17d1a4f99cf43468c4c6558e00d74a4ae25084ba691ff57d9572e7cc87cbe9","6197f3525684d0a5b7ab262c5c3c8822b97115a9a3ccd75c179bbd41264a7dff","6f6f9bedf2d091813121d54b4f49a4ba55073ff3a0f765ad7ca011d3f72af5f2","c3d50c44200655aa0b8321ee4b0e3c5793a270579c220cf164c0a723cc3c9f6f","c5f28e9eb603d37d42acfab679bfaec5e9fa5ffa8dee4006e5d5e126fc05e6af","ed360765fda45fd96c782c649541e2e85894a6469ba75e436a82dde658be9093","f62c0f6bda9cfb95ad21559c066450ab59df7a752c8604b5025be198eea6c2e6"],"recordQualifiers":{},"scopeLabel":"ORPHA:79246","sourceIds":["ORPHA:79246"],"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:0009502/OMIM:245348","MONDO:0009503/OMIM:245349","MONDO:0010717/OMIM:312170","MONDO:0012120/OMIM:608782"],"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":68,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":315,"sourceGroups":{"omim":67,"orphanet":178,"published":70}},"features":[{"hpoId":"HP:0002134","label":"Abnormal basal ganglia morphology","primary":false},{"hpoId":"HP:0012443","label":"Abnormal brain morphology","primary":false},{"hpoId":"HP:0002363","label":"Abnormal brainstem morphology","primary":false},{"hpoId":"HP:0002683","label":"Abnormal calvaria morphology","primary":false},{"hpoId":"HP:0001317","label":"Abnormal cerebellum morphology","primary":false},{"hpoId":"HP:0012379","label":"Abnormal circulating enzyme concentration or activity","primary":false},{"hpoId":"HP:0010915","label":"Abnormal circulating pyruvate family amino acid concentration","primary":false},{"hpoId":"HP:0001273","label":"Abnormal corpus callosum morphology","primary":false},{"hpoId":"HP:0500231","label":"Abnormal CSF pyruvate family amino acid concentration","primary":false},{"hpoId":"HP:0001999","label":"Abnormal facial shape","primary":false},{"hpoId":"HP:0025361","label":"Abnormal medullary pyramid morphology","primary":false},{"hpoId":"HP:0007256","label":"Abnormal pyramidal sign","primary":false},{"hpoId":"HP:0000496","label":"Abnormality of eye movement","primary":false},{"hpoId":"HP:0000707","label":"Abnormality of the nervous system","primary":false},{"hpoId":"HP:0001274","label":"Agenesis of corpus callosum","primary":false},{"hpoId":"HP:0000463","label":"Anteverted nares","primary":false},{"hpoId":"HP:0000739","label":"Anxiety","primary":false},{"hpoId":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","primary":false},{"hpoId":"HP:0002104","label":"Apnea","primary":false},{"hpoId":"HP:0002872","label":"Apneic episodes precipitated by illness, fatigue, stress","primary":false},{"hpoId":"HP:0031960","label":"Arm dystonia","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0000708","label":"Atypical behavior","primary":false},{"hpoId":"HP:0008936","label":"Axial hypotonia","primary":false},{"hpoId":"HP:0003487","label":"Babinski sign","primary":false},{"hpoId":"HP:0006799","label":"Basal ganglia cysts","primary":false},{"hpoId":"HP:0006999","label":"Basal ganglia gliosis","primary":false},{"hpoId":"HP:0012128","label":"Basal ganglia necrosis","primary":false},{"hpoId":"HP:0002069","label":"Bilateral tonic-clonic seizure","primary":false},{"hpoId":"HP:0000618","label":"Blindness","primary":false},{"hpoId":"HP:0410263","label":"Brain imaging abnormality","primary":false},{"hpoId":"HP:0001348","label":"Brisk reflexes","primary":false},{"hpoId":"HP:0002136","label":"Broad-based gait","primary":false},{"hpoId":"HP:0002350","label":"Cerebellar cyst","primary":false},{"hpoId":"HP:0012698","label":"Cerebellar gliosis","primary":false},{"hpoId":"HP:0001321","label":"Cerebellar hypoplasia","primary":false},{"hpoId":"HP:0002059","label":"Cerebral atrophy","primary":false},{"hpoId":"HP:0002181","label":"Cerebral edema","primary":false},{"hpoId":"HP:0100021","label":"Cerebral palsy","primary":false},{"hpoId":"HP:0001266","label":"Choreoathetosis","primary":false},{"hpoId":"HP:0004925","label":"Chronic lactic acidosis","primary":false},{"hpoId":"HP:0002312","label":"Clumsiness","primary":false},{"hpoId":"HP:0004902","label":"Congenital lactic acidosis","primary":false},{"hpoId":"HP:0007016","label":"Corticospinal tract hypoplasia","primary":false},{"hpoId":"HP:0002928","label":"Decreased activity of the pyruvate dehydrogenase complex","primary":false},{"hpoId":"HP:0004325","label":"Decreased body weight","primary":false},{"hpoId":"HP:0100503","label":"Decreased circulating vitamin B1 concentration","primary":false},{"hpoId":"HP:0025336","label":"Delayed ability to sit","primary":false},{"hpoId":"HP:0025335","label":"Delayed ability to stand","primary":false},{"hpoId":"HP:0031936","label":"Delayed ability to walk","primary":false},{"hpoId":"HP:0002194","label":"Delayed gross motor development","primary":false},{"hpoId":"HP:0000726","label":"Dementia","primary":false},{"hpoId":"HP:0001315","label":"Diminished deep tendon reflex","primary":false},{"hpoId":"HP:0002307","label":"Drooling","primary":false},{"hpoId":"HP:0002329","label":"Drowsiness","primary":false},{"hpoId":"HP:0001260","label":"Dysarthria","primary":false},{"hpoId":"HP:0002015","label":"Dysphagia","primary":false},{"hpoId":"HP:0002094","label":"Dyspnea","primary":false},{"hpoId":"HP:0001332","label":"Dystonia","primary":false},{"hpoId":"HP:0011196","label":"EEG with focal sharp waves","primary":false},{"hpoId":"HP:0011193","label":"EEG with focal spikes","primary":false},{"hpoId":"HP:0011199","label":"EEG with generalized sharp slow waves","primary":false},{"hpoId":"HP:0032653","label":"Elevated lactate:pyruvate ratio","primary":false},{"hpoId":"HP:0001298","label":"Encephalopathy","primary":false},{"hpoId":"HP:0000286","label":"Epicanthus","primary":false},{"hpoId":"HP:0002131","label":"Episodic ataxia","primary":false},{"hpoId":"HP:0020045","label":"Esodeviation","primary":false},{"hpoId":"HP:0002454","label":"Eye of the tiger anomaly of globus pallidus","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0011968","label":"Feeding difficulties","primary":false},{"hpoId":"HP:0008872","label":"Feeding difficulties in infancy","primary":false},{"hpoId":"HP:0000454","label":"Flared nostrils","primary":false},{"hpoId":"HP:0001371","label":"Flexion contracture","primary":false},{"hpoId":"HP:0040328","label":"Focal hyperintensity of cerebral white matter on MRI","primary":false},{"hpoId":"HP:0007183","label":"Focal T2 hyperintense basal ganglia lesion","primary":false},{"hpoId":"HP:0031139","label":"Frog-leg posture","primary":false},{"hpoId":"HP:0002007","label":"Frontal bossing","primary":false},{"hpoId":"HP:0004302","label":"Functional motor deficit","primary":false},{"hpoId":"HP:0002066","label":"Gait ataxia","primary":false},{"hpoId":"HP:0001288","label":"Gait disturbance","primary":false},{"hpoId":"HP:0002020","label":"Gastroesophageal reflux","primary":false},{"hpoId":"HP:0011471","label":"Gastrostomy tube feeding in infancy","primary":false},{"hpoId":"HP:0007325","label":"Generalized dystonia","primary":false},{"hpoId":"HP:0001290","label":"Generalized hypotonia","primary":false},{"hpoId":"HP:0002171","label":"Gliosis","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0000218","label":"High palate","primary":false},{"hpoId":"HP:0003348","label":"Hyperalaninemia","primary":false},{"hpoId":"HP:0001987","label":"Hyperammonemia","primary":false},{"hpoId":"HP:0008358","label":"Hyperprolinemia","primary":false},{"hpoId":"HP:0001347","label":"Hyperreflexia","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0001276","label":"Hypertonia","primary":false},{"hpoId":"HP:0001639","label":"Hypertrophic cardiomyopathy","primary":false},{"hpoId":"HP:0002365","label":"Hypoplasia of the brainstem","primary":false},{"hpoId":"HP:0002079","label":"Hypoplasia of the corpus callosum","primary":false},{"hpoId":"HP:0001265","label":"Hyporeflexia","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0002521","label":"Hypsarrhythmia","primary":false},{"hpoId":"HP:0007772","label":"Impaired smooth pursuit","primary":false},{"hpoId":"HP:0002540","label":"Inability to walk","primary":false},{"hpoId":"HP:0002151","label":"Increased circulating lactate concentration","primary":false},{"hpoId":"HP:0003542","label":"Increased circulating pyruvate concentration","primary":false},{"hpoId":"HP:0002490","label":"Increased CSF lactate","primary":false},{"hpoId":"HP:0012469","label":"Infantile spasms","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0010576","label":"Intracranial cystic lesion","primary":false},{"hpoId":"HP:0001511","label":"Intrauterine growth retardation","primary":false},{"hpoId":"HP:0000737","label":"Irritability","primary":false},{"hpoId":"HP:0006961","label":"Jerky head movements","primary":false},{"hpoId":"HP:0034392","label":"Joint contracture","primary":false},{"hpoId":"HP:0003128","label":"Lactic acidosis","primary":false},{"hpoId":"HP:0003648","label":"Lacticaciduria","primary":false},{"hpoId":"HP:0006956","label":"Lateral ventricle dilatation","primary":false},{"hpoId":"HP:0001254","label":"Lethargy","primary":false},{"hpoId":"HP:0002415","label":"Leukodystrophy","primary":false},{"hpoId":"HP:0009826","label":"Limb undergrowth","primary":false},{"hpoId":"HP:0000343","label":"Long philtrum","primary":false},{"hpoId":"HP:0030917","label":"Low APGAR score","primary":false},{"hpoId":"HP:0002395","label":"Lower limb hyperreflexia","primary":false},{"hpoId":"HP:0006895","label":"Lower limb hypertonia","primary":false},{"hpoId":"HP:0001942","label":"Metabolic acidosis","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0011342","label":"Mild global developmental delay","primary":false},{"hpoId":"HP:0001256","label":"Mild intellectual disability","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0002333","label":"Motor deterioration","primary":false},{"hpoId":"HP:0001012","label":"Multiple lipomas","primary":false},{"hpoId":"HP:0001336","label":"Myoclonus","primary":false},{"hpoId":"HP:0000275","label":"Narrow face","primary":false},{"hpoId":"HP:0001319","label":"Neonatal hypotonia","primary":false},{"hpoId":"HP:0002643","label":"Neonatal respiratory distress","primary":false},{"hpoId":"HP:0002180","label":"Neurodegeneration","primary":false},{"hpoId":"HP:0012758","label":"Neurodevelopmental delay","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0000657","label":"Oculomotor apraxia","primary":false},{"hpoId":"HP:0000648","label":"Optic atrophy","primary":false},{"hpoId":"HP:0100453","label":"Osteolytic defects of the middle phalanx of the 4th toe","primary":false},{"hpoId":"HP:0001302","label":"Pachygyria","primary":false},{"hpoId":"HP:0002268","label":"Paroxysmal dystonia","primary":false},{"hpoId":"HP:0001338","label":"Partial agenesis of the corpus callosum","primary":false},{"hpoId":"HP:0000767","label":"Pectus excavatum","primary":false},{"hpoId":"HP:0012043","label":"Pendular nystagmus","primary":false},{"hpoId":"HP:0007994","label":"Peripheral visual field loss","primary":false},{"hpoId":"HP:0007109","label":"Periventricular cysts","primary":false},{"hpoId":"HP:0007165","label":"Periventricular heterotopia","primary":false},{"hpoId":"HP:0006970","label":"Periventricular leukomalacia","primary":false},{"hpoId":"HP:0032988","label":"Persistent head lag","primary":false},{"hpoId":"HP:0001761","label":"Pes cavus","primary":false},{"hpoId":"HP:0002126","label":"Polymicrogyria","primary":false},{"hpoId":"HP:0007010","label":"Poor fine motor coordination","primary":false},{"hpoId":"HP:0007015","label":"Poor gross motor coordination","primary":false},{"hpoId":"HP:0002465","label":"Poor speech","primary":false},{"hpoId":"HP:0005656","label":"Positional foot deformity","primary":false},{"hpoId":"HP:0002187","label":"Profound intellectual disability","primary":false},{"hpoId":"HP:0000508","label":"Ptosis","primary":false},{"hpoId":"HP:0002100","label":"Recurrent aspiration pneumonia","primary":false},{"hpoId":"HP:0002719","label":"Recurrent infections","primary":false},{"hpoId":"HP:6000829","label":"Reduced tissue glycine cleavage enzyme activity","primary":false},{"hpoId":"HP:0002878","label":"Respiratory failure","primary":false},{"hpoId":"HP:0002093","label":"Respiratory insufficiency","primary":false},{"hpoId":"HP:0000546","label":"Retinal degeneration","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0010864","label":"Severe intellectual disability","primary":false},{"hpoId":"HP:0004900","label":"Severe lactic acidosis","primary":false},{"hpoId":"HP:0200012","label":"Short corpus callosum","primary":false},{"hpoId":"HP:0000954","label":"Single transverse palmar crease","primary":false},{"hpoId":"HP:0002360","label":"Sleep disturbance","primary":false},{"hpoId":"HP:0001518","label":"Small for gestational age","primary":false},{"hpoId":"HP:0001264","label":"Spastic diplegia","primary":false},{"hpoId":"HP:0001258","label":"Spastic paraplegia","primary":false},{"hpoId":"HP:0002510","label":"Spastic tetraplegia","primary":false},{"hpoId":"HP:0001257","label":"Spasticity","primary":false},{"hpoId":"HP:0011098","label":"Speech apraxia","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0002416","label":"Subependymal cysts","primary":false},{"hpoId":"HP:0002789","label":"Tachypnea","primary":false},{"hpoId":"HP:0001883","label":"Talipes","primary":false},{"hpoId":"HP:0002273","label":"Tetraparesis","primary":false},{"hpoId":"HP:0001337","label":"Tremor","primary":false},{"hpoId":"HP:0000243","label":"Trigonocephaly","primary":false},{"hpoId":"HP:0002317","label":"Unsteady gait","primary":false},{"hpoId":"HP:0025331","label":"Upgaze palsy","primary":false},{"hpoId":"HP:0000582","label":"Upslanted palpebral fissure","primary":false},{"hpoId":"HP:0001629","label":"Ventricular septal defect","primary":false},{"hpoId":"HP:0002119","label":"Ventriculomegaly","primary":false},{"hpoId":"HP:0000431","label":"Wide nasal bridge","primary":false}],"ledeHtml":"Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.","mondoId":"MONDO:0019169","records":[{"frequencyKind":"reported","key":"004faa0c7b90ba22eb8b89e78fba9799073d68ec5a74365aecaaeda8d883b8cf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007015","is_excluded":false,"label":"Poor gross motor coordination","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0104058db1068935460a7679d92f2b9c37a2492308a71590acf90bc937f9c1bd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001321","is_excluded":false,"label":"Cerebellar hypoplasia","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"010ce44892b269dd817d7d5e7cd7a696e779f08d69c5134a06e7fc4b0ddf1a36","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"01b36d19b96511ed2cc721f4e5d92bc1557a782ce37108c945888a3e17c40f21","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000737","is_excluded":false,"label":"Irritability","onset_id":null,"reference":"PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"02b4f069810787452ce02e9546230820b9497ceedbb702dec8215a27b5e1b4f2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002317","is_excluded":false,"label":"Unsteady gait","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"05515a4cc7b8c0e254f76fc0c9491e3f445360856e4d847b997a58fbe9502740","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003542","is_excluded":false,"label":"Increased circulating pyruvate concentration","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"07bbaf671d06d8d31c5be2ad2689c7061657c0187e2d48ec9be9321a2e75767b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001336","is_excluded":false,"label":"Myoclonus","onset_id":null,"reference":"PMID:9266390","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"08157f91c60792045d3f4fbc7189737fee8f8b768a40e0a5aaf46a149db46688","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000343","is_excluded":false,"label":"Long philtrum","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0a3292d66dd16d18f98f19748e07f8dc8c4a53b3a40ae084664b1e5f82b55f87","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002093","is_excluded":false,"label":"Respiratory insufficiency","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0a7414d67f3294424c81274fa807b32ebdcb38aaac1277061550199754b009be","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100021","is_excluded":false,"label":"Cerebral palsy","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0a7423efb7ace420a88e115b2f6e4e640b776ca3bd67699fefbd8c0313b4fe18","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004900","is_excluded":false,"label":"Severe lactic acidosis","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0b06c37b2b3dc895a250f69815a915fd956df9190f060082213a4df871c88410","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0b77290c1d5460bb89c915915c14301aa0841fb93d308b3ef81cd3d6025d7ed9","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004902","is_excluded":false,"label":"Congenital lactic acidosis","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0baf0a6377bfac2282a2d9a65d39905e0360b5de4fa2d7e246656cf4bdd37b4a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002363","is_excluded":false,"label":"Abnormal brainstem morphology","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0d22dc4f1e3f623c94160f03dd11a6aaf825bb88bb12bcec3fa68c3906c21f4c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004302","is_excluded":false,"label":"Functional motor deficit","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0e9364512d8cbf3c68e1aaf2e9c23ddb8b58e1931e952e3d83873c3d6b58ad35","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000431","is_excluded":false,"label":"Wide nasal bridge","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0f345787d624beb8b9658f9d28a11639bfae0d69f9fee6f9626175ce32f13f0c","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002878","is_excluded":false,"label":"Respiratory failure","onset_id":null,"reference":"PMID:9266390","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"111d9a396e3e9e396e3f7176993caeb7c01de6342bd9f89d29370e7f3cf67ad6","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0500231","is_excluded":false,"label":"Abnormal CSF pyruvate family amino acid concentration","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"12bcf19d38be1ca6fd1925bb08a9c721eba6792ffa143a23c3bcca8606782080","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001999","is_excluded":false,"label":"Abnormal facial shape","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1320b434d52a87a6546ed1cb96b57eb6e878df43e1565d808a987369cf07d4e2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1334421c5583031b203dde19ce2efa5a41b5240f4cd8f7c7891832ad151f2458","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002059","is_excluded":false,"label":"Cerebral atrophy","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1369dc89c1ee2358ff1f1236915de52033011c2035eb5c45cc7e15d0f3b66e6d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"14898ec1739e3533491529c2ddd8aa4523b75aaf971b0d879651fe9c00965c44","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79246","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003128","is_excluded":false,"label":"Lactic acidosis","onset_id":null,"reference":"ORPHA:79246","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"156172cca94a9492fcc4c05b9d7b8956aea68437e9067f1a58b86f8f10bf2b7f","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0003542","is_excluded":false,"label":"Increased circulating pyruvate concentration","onset_id":null,"reference":"PMID:9266390;PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"15b440bcc9efe06f35dc15a51b02ebd00f82eea2b24b42bda28be15f8bfc88c0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"160c14612eb019dd3df587cc938045d3435dfa1027e3f6525d6210c8fdd93d56","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0031139","is_excluded":false,"label":"Frog-leg posture","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1655a79a61f42df2593a5376f68d3473fac702a4796a425ba721601f179ab100","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011471","is_excluded":false,"label":"Gastrostomy tube feeding in infancy","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1674ba78bb192d7db5bee960bf1429efc0c3f5143709cd2f64550beae5525877","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"174c8941eb5733ef337d855312a45593a2ad58f22e1c793d8344913a3c7eb68d","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002928","is_excluded":false,"label":"Decreased activity of the pyruvate dehydrogenase complex","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"17f12aa01518ce3a5ca8c64f76e2ec7cc3e5c1621eac5c0dbd6aa218a6b40eb5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"18d2cc556027e3d9d5dbb70e2dde2fc2a388c9b4756f51392b1556d53f46de77","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000431","is_excluded":false,"label":"Wide nasal bridge","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"193dc99f48197830517cf3435eefbfdca8e8469b7dba0fc06efaa311e7f3bdd3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1a887ba96b57ac89186d2fc051eb79b03dd6be5eb3f7f38a2d58c19baa18cc27","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012128","is_excluded":false,"label":"Basal ganglia necrosis","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1aac5741b86c31ca4b91c970c03b758814a80e02476bee393f4266d225c46543","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1ace508040d5178a113a676355913ac79176aed94463e239c81687e2f8f687d1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001264","is_excluded":false,"label":"Spastic diplegia","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1d0691db73f9e5b8e20e69fcb77398aee8313c109e3f119dc420743da076d607","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000343","is_excluded":false,"label":"Long philtrum","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1d97fde6bcb318df208bccd13916317252b83913123a00a68c7d1370d42c228e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001999","is_excluded":false,"label":"Abnormal facial shape","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1ffa444e097c53852b744732aab94ba373c692a6a023d7873d77d69ef0fff606","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002059","is_excluded":false,"label":"Cerebral atrophy","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"20fbd5b3f62ea09dca403844e5ba49d69edb8fdc0452834e2fa4a557be987a4e","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"21940d3ac14f15c61b8e1511ee6fb95fb63cab54a171d8f6b631d60e84e431a2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0007183","is_excluded":false,"label":"Focal T2 hyperintense basal ganglia lesion","onset_id":null,"reference":"PMID:9266390","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"219d8f70ffd8e61c31b645d213e6632a186bac573d30b3eed6e1f39b1b8e09a6","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79246","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002928","is_excluded":false,"label":"Decreased activity of the pyruvate dehydrogenase complex","onset_id":null,"reference":"ORPHA:79246","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"23677b81ff6e8cffcdb321e7f7ec2681e3894d8ddc1aa57434daebb28a392565","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"23a77b54ee4a9a90e04a3e2758d49050df2fa3ff71aaeba8d1a5921562a32739","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002131","is_excluded":false,"label":"Episodic ataxia","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"23dc6f130cbca05d3822f4822abf6b69c82620ab04ff2f983e08628913f06cd6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"PMID:9266390;PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"271e684a3c07fa91b892973d406cbc405b382142fa7a8aa7c078a5135c3fb4a6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001338","is_excluded":false,"label":"Partial agenesis of the corpus callosum","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2793e958cf918e32c41186771a0513536f2e1dde9f77b71276ad3b25696a201d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608782","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:15855260","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"29f4534abed723840925bf8941a973e1848f1a28e00bc48d1f65910849be51cb","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003128","is_excluded":false,"label":"Lactic acidosis","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2b0b42c29b391c4f8e35e780e8662767935690b459459a158dbe43b92a8fb81e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001348","is_excluded":false,"label":"Brisk reflexes","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2b5c14cdce721225e88bec133ebbfe729e717526657bdf4dd9d587366a3518d9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2c277eb0606083a62249c5efa4ea54c160d443c58fa7c2afce8ef2b6ce1ebd13","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2c69f78f93b1c40b0800104406e5e37f15b7cab738a1c6a9407b496cf1955efb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001337","is_excluded":false,"label":"Tremor","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2cdd9fc0c980f4fa64a11133b4f8a08553fd328cf8ab1bbc85759e32c25d3171","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:614111","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"PMID:15138885","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2dba1395f0064673d532527395ab7bb87cb13028e52247196e1f9fe3c5491cdf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2efe375ab30d1fd40df8679976429a36fd724fcb8a405b2ac7cf98fa97df2cbd","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003128","is_excluded":false,"label":"Lactic acidosis","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2f755844873bdd3fdf4d34566263465646e74782f490d517324a391c81829475","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002928","is_excluded":false,"label":"Decreased activity of the pyruvate dehydrogenase complex","onset_id":null,"reference":"PMID:9266390;PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2f9ff731fd803fcd958afcd28679a36da3b187d73c691f5340c84a5fa852a717","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3030d667ff6c4cea916500b6b0b087595c2d93d555e553bd711d20b64a1abb24","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002395","is_excluded":false,"label":"Lower limb hyperreflexia","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"32536e2e98591bed8eb597e80378ab288a3ca7e5b290884b2e3c51f1b6a8966c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"32ecb51ffde1008fec60f9006d33ca43455bcd05706ad559e313ca9241acc120","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"357106131bc03a5b75e66fbd2bfc5d200287ed910506adcc4171275a94f74f05","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"35d687ca59afa34961706988839cbeeb3c15de98bcab2d3fd6f45c24dcb0f8fc","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001319","is_excluded":false,"label":"Neonatal hypotonia","onset_id":null,"reference":"OMIM:245348","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"37c85d112cf7861572d34864c803ed55155a0d0782e10a049771a284d65599ce","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000582","is_excluded":false,"label":"Upslanted palpebral fissure","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"37e80939375cd0d783d62bcff8509d2e7a46747c93078849cec696d1442674d5","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79246","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008358","is_excluded":false,"label":"Hyperprolinemia","onset_id":null,"reference":"ORPHA:79246","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3b145faf68e29db9f5feef99a145b998e210bec46db72cccc20fd0fcfaa261cb","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002683","is_excluded":false,"label":"Abnormal calvaria morphology","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3b15aaa77ee328afbff9f97f29c6648bdb94a3b077b4f23f7d77d1bb2c0a992b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608782","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"OMIM:608782","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3bf1b834c34ab036f77339665fc49e8234031bc7d11bb8e328d43df9dc474798","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3c852d186637a5b1131d6cbfe4c2341866da65562def31da614eb090ffe7bdbc","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002104","is_excluded":false,"label":"Apnea","onset_id":null,"reference":"OMIM:614462","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3ce32194fa95860d5c6463dc6ef59885b29af5a4fdab62fc9e4e4b2e32caddb4","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000546","is_excluded":false,"label":"Retinal degeneration","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3d409b984c66802823d078fe847494679b43f7d1630d62a17bb6a3428832c566","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002928","is_excluded":false,"label":"Decreased activity of the pyruvate dehydrogenase complex","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3d4ead8042029eefd3d840ecfff3b6445d4e44999073787c5d65cf4f1f6897ac","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002119","is_excluded":false,"label":"Ventriculomegaly","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3d97e8befbb23b5d8531afcd8dfb076cd92cc1a119740ae76a9c451e5f18336e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"11/11","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:9266390;OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3eee1563719f785f6a81388a73608f4efee78d1ee90e980982fbcfc449246b77","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4255a9489472df24352a60233379c655d8f9f635a042f47387ca8290af8c7188","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006999","is_excluded":false,"label":"Basal ganglia gliosis","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"46ad29bdc89c2816822d8561748ceac8a9131443314288445ee2e774e0687847","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614111","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001274","is_excluded":false,"label":"Agenesis of corpus callosum","onset_id":null,"reference":"PMID:15138885","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"47499dd1ec689483b71c30774c6c7b29e7ef99c20d65f164881beb53d16ace99","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"47610ce0418c19b432934b76eecd1dab91368b5e5747b0cf6492c149c0359edc","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0100021","is_excluded":false,"label":"Cerebral palsy","onset_id":null,"reference":"PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"47a23613c74211c6d60566388497db77d04a87302745c55d0f59c41fc5f6ab5f","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0000657","is_excluded":false,"label":"Oculomotor apraxia","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"47c3c74788da8c7e3dc44b15bddb6695d862531b1cd5cda604de819591d5ddae","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001942","is_excluded":false,"label":"Metabolic acidosis","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"48438c93478ff4542c584fa7759445df93ea97ee9bbdc0965b0da6e623b873c3","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002151","is_excluded":false,"label":"Increased circulating lactate concentration","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"49288d2cc365ad1453c36b488224b42d5f50500c7d3768f84068b1fc6f225960","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008936","is_excluded":false,"label":"Axial hypotonia","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4a647935d36730ddd2130d5a982ae14f55dafb70644039c26af680747ade93cf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001266","is_excluded":false,"label":"Choreoathetosis","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4ac9ba89400f4c95a6a2486032f9dd40add7e4fd6977001423419f5528961b17","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003128","is_excluded":false,"label":"Lactic acidosis","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"4f04327513c19682509bb80f470192984d6a94d39f53cd6d0c4cdc0aa834865d","raw":{"aspect":"P","body_system":"prenatal","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0030917","is_excluded":false,"label":"Low APGAR score","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"502a11420f31212627e7b461bcad6de29d97783808b318d5fe18ac64403f6e99","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0031960","is_excluded":false,"label":"Arm dystonia","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"502c3fb22046391d17c175611c1e98e00002ec58940cde2af1d28290f59c619a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001336","is_excluded":false,"label":"Myoclonus","onset_id":null,"reference":"OMIM:614462","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"556babf690c24e31b323efb92c1b449352e7ad9629f32885ed8ce26c360cf67a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"55d893d66b84fd6fdf7595ce6662e2d6c9c7d7be12dcbacdc1860cbd7930c0dc","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002312","is_excluded":false,"label":"Clumsiness","onset_id":null,"reference":"PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"561f6c5b7b24e1892f3e5b56107f785ee518f59233c1e0f97ca01a111f971e55","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002119","is_excluded":false,"label":"Ventriculomegaly","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"5667ad8ca97e567d3a92d8dc0f89393aa9fa668330dda0a6e44b7b8781de583d","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002181","is_excluded":false,"label":"Cerebral edema","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"567a41c631ac69a6bfc0acd1c48038a31fe45a981c769012f8746ca853f2ceb3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614111","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:15138885","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"56d4899f58293b57196e3f09eea6877c3f0fdfc8768c9ea90b8492618d0e09bf","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002151","is_excluded":false,"label":"Increased circulating lactate concentration","onset_id":null,"reference":"PMID:9266390;PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"571bfbbbc6dc5619ed1f87a8633bd16dbda2d856f1e7b397aafdc2b7bc010b89","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001266","is_excluded":false,"label":"Choreoathetosis","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"57ef85ecf5fd30a8746328b9b4cbbecdeb29b1db7328765ca40587961d1dfd37","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"58ac873aea66eaee063443ba1bed2f3843db3304dc77a8dd2e87a420dc4b76db","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001276","is_excluded":false,"label":"Hypertonia","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"58b8641ad481f44505e9f614e10f03524c10c5d52c6b58e518e190589661723b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0010864","is_excluded":false,"label":"Severe intellectual disability","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"593ce0db867ab3732f336d06a89529fe841356e916ccc53c9db7958fb6f46645","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79246","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003648","is_excluded":false,"label":"Lacticaciduria","onset_id":null,"reference":"ORPHA:79246","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"59acd42c1cf0475734374f7b250ee7e31833e99547d9a440feb43e539af5077e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006970","is_excluded":false,"label":"Periventricular leukomalacia","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"59de3d886c672df1030d5e6951bf526ec59e658f24e38a237fd8643e8799eca7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001298","is_excluded":false,"label":"Encephalopathy","onset_id":null,"reference":"OMIM:614462","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5a08e7bb1d4a33bac04eaf54a6ecec43e8eb4da41cc3cecde98ccf2553bc35e2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001317","is_excluded":false,"label":"Abnormal cerebellum morphology","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"5a8cc1b3553d4b1bccb9f602ce9c4f018d1208fa88c0813a222dba1ca33b4521","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5ac8793684e88354ec6d7d2d604439bd77c1e8e15822385bf51df1fa5dfbffe7","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"5b988570453750a63f9cbab732f73a1120a41d504a331aa45d742ce9ca1960c2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5c430f76bd0497d7a769c4c5b136fbf67cc54da3809e8188bfdccc77dfc01a4b","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000618","is_excluded":false,"label":"Blindness","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5c5968e13782c389af0f77833d4d9b5b96a3c44f881b6d988183494bf71c9e2f","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012379","is_excluded":false,"label":"Abnormal circulating enzyme concentration or activity","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5d17d1a4f99cf43468c4c6558e00d74a4ae25084ba691ff57d9572e7cc87cbe9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79246","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0040328","is_excluded":false,"label":"Focal hyperintensity of cerebral white matter on MRI","onset_id":null,"reference":"ORPHA:79246","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5de416621e35767901d55d551cfef51a3c28af4ec4acc43f86a606cf8ad60dc1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608782","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:608782","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5e04df37e67f4f8cbff17b41efdd1c518b8cb7c86850f9409b8e5becd09de0c5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002059","is_excluded":false,"label":"Cerebral atrophy","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5e9ef887fc5faca9fc38eb652f8b61f61756bd177156d0f5dd756f8f3852f7ae","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001288","is_excluded":false,"label":"Gait disturbance","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5f3bc231bdbb11eb54938dc33cf69050d8f1bf9130859f0ecd654be19f01ea00","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003542","is_excluded":false,"label":"Increased circulating pyruvate concentration","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5f560a97a757ee68bd6d72fb82f10a3c5aa84fb9f66dea37773715699e21a3f8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5f5e64aee0359f420317e8dc35ede6f4b27bee0a237c24a652aa243382a65454","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001266","is_excluded":false,"label":"Choreoathetosis","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5f79a5d630a5fdc7f1ad8ec235246ff636bfdb0c247d508105edbe1215692d20","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5fa092642ae4170eefcba30383e53b658b77bee443da76eafc8987a42ad1c293","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002079","is_excluded":false,"label":"Hypoplasia of the corpus callosum","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"60a0128569a9e4be9175c9d1b807380d81bc73c0a27232c5f8038ad36d1039c7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001883","is_excluded":false,"label":"Talipes","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"60a831a98f3fd61b9e49634da314a5af2d8373dc6c5adb74b94587a31d12b0da","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001639","is_excluded":false,"label":"Hypertrophic cardiomyopathy","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"60ad71f09d078388c1b98f3894cc4c2ad7c1be3ced97fa85e88de11defd172d0","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002100","is_excluded":false,"label":"Recurrent aspiration pneumonia","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"60d68e36ad29dd5e4b77798d91c2ff5af07e879699ff057d8fd2ac74ecee18f1","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0012043","is_excluded":false,"label":"Pendular nystagmus","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"61508e0ebc174af1833197025c86264d1eff07a59cd9a860446a7071a80eadc8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002521","is_excluded":false,"label":"Hypsarrhythmia","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6197f3525684d0a5b7ab262c5c3c8822b97115a9a3ccd75c179bbd41264a7dff","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79246","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011342","is_excluded":false,"label":"Mild global developmental delay","onset_id":null,"reference":"ORPHA:79246","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"61a92a656405170a6c1504e38d5cddba871b38cddb89f970c57d5c77b25120b0","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:608782","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"PMID:15855260","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"633eb0b3a89edf35c53e3fdd58ed5a268c94f3b92e0fc90c54e091e6bed22acd","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"63d7b97f43fb0618e5142a950f41a5bfdb86ae8f79cf715dafc9ee0a126e7e67","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:608782","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":"HP:0003623","reference":"PMID:15855260","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"66176868d5dd857d07a064f1fc02cc5d5c9fbd26f4aecc706fdea19adae57740","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002415","is_excluded":false,"label":"Leukodystrophy","onset_id":null,"reference":"OMIM:614462","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"678aa53412cad63313e99328e63113ba0a9a4ab71f803bb7ae5ca2d25296fa67","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001274","is_excluded":false,"label":"Agenesis of corpus callosum","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"689d94e9f19b50d8f3e2cc908bd4e5baae4b03bf95771e7074cb77123340fbbd","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002490","is_excluded":false,"label":"Increased CSF lactate","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"68b7ba8338675352a25a18561979dde9f8821b93af03dfa80a611ab4371866f9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001371","is_excluded":false,"label":"Flexion contracture","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"690326ca212bdfc2d5ef87d178aee4151dddf49db155f03d866d698227f9e1af","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"69af835ee29ba2df3e30df8756205e8bb84b0e0c26758cd6c6f05c8aadbd5537","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"6b3f5b74529a1d049362c545f26ba022db8c0409180ba197224ad3e4356b029c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002187","is_excluded":false,"label":"Profound intellectual disability","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6c11e51e36192be00bb4c7d1e1d58a885b6fb2ef1199ed0cf4b94855ef27ab07","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000243","is_excluded":false,"label":"Trigonocephaly","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"6df67b96126730beb956dfd6ebc0f4175cec3fb5e1e3674520965cadad14baac","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001256","is_excluded":false,"label":"Mild intellectual disability","onset_id":null,"reference":"OMIM:245348","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"6e05330a4e6537c15b6a845ae3b5532e34b93d6673007e1815deedb3768fde14","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:6000829","is_excluded":false,"label":"Reduced tissue glycine cleavage enzyme activity","onset_id":null,"reference":"PMID:24334290","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6e8e89713d67726ddc9ad54462845684c6618e605a27832c14aa2386f2d48c6e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001302","is_excluded":false,"label":"Pachygyria","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"6e9b4781ec08208d8ea3710a19360e8aa5f50312cd644539781d5d2c5ae5effe","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6ef0f8784d032d62e113982433c8d60549cd38a8c433652ba53cc98ce145b0ec","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012758","is_excluded":false,"label":"Neurodevelopmental delay","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6f6f9bedf2d091813121d54b4f49a4ba55073ff3a0f765ad7ca011d3f72af5f2","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79246","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002151","is_excluded":false,"label":"Increased circulating lactate concentration","onset_id":null,"reference":"ORPHA:79246","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6f7efcab8791c74eaa91edd4b03ee42b3e76cff4bd90310aa5456342bee71fe9","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:608782","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"OMIM:608782","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"70fa2cc0d41547343c7468753ad1fb824e327efa29e2e116648e418ed43b6470","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002194","is_excluded":false,"label":"Delayed gross motor development","onset_id":null,"reference":"OMIM:245348","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"71a23338b782e216da92676353bf41cc74bcab116df8480db47cc4073d2a15f9","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001942","is_excluded":false,"label":"Metabolic acidosis","onset_id":null,"reference":"PMID:9266390","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"739743d8d72e12b4d98f3054361ce2a65874db2ed2ac84304447c610602429a0","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"11/11","hpo_id":"HP:0003348","is_excluded":false,"label":"Hyperalaninemia","onset_id":null,"reference":"OMIM:312170;PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"743f9c509a4580603337faadf426960cac90500ea1f2143efdf6041ec2814a23","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007109","is_excluded":false,"label":"Periventricular cysts","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"754d7bb2b9945056fd3570629b21458c4aad86c814c266102b8a0700678976e5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"76e4fd548dadf1bf10c49fd5f9d9822e1c323df6ca75ea8a40c6fbcf05ddb53a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0006895","is_excluded":false,"label":"Lower limb hypertonia","onset_id":null,"reference":"PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"77a5482ba4a8e6da5d861e74562ae4f107dc10a24bc999902d4effa7494de9b8","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0000508","is_excluded":false,"label":"Ptosis","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"78bdb1cb1bb26385cd0e0f0b29c743cdea882c161b839f5db6a893eeaf4763c5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608782","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"OMIM:608782","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"79bd9293ba2f4b663314327866344e864e8d4943a148c452f9d33b6f52d079d3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001319","is_excluded":false,"label":"Neonatal hypotonia","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"79cd482ec691b88a176da05437720e76e1e208b461763b03e20a5b67af20191f","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:614111","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001987","is_excluded":false,"label":"Hyperammonemia","onset_id":null,"reference":"PMID:15138885","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"7be64a665ddf8320b8db578592acbb32ce8057490be79ea8d4e7e70e0680d875","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001338","is_excluded":false,"label":"Partial agenesis of the corpus callosum","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7bedc5a3a6b7539dc1b69a164ad8f963ce9d3d0772d208b2de8cb55ace60aaac","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010864","is_excluded":false,"label":"Severe intellectual disability","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7c7dcad7a60314382f4f3eb3d4840b0aec89ab66a657f88b9c51146d8eceb4b7","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002928","is_excluded":false,"label":"Decreased activity of the pyruvate dehydrogenase complex","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7d7e2edfabcc53df4f41c12562ce045a0dcf1d8f81040815592eb781772ade7f","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004325","is_excluded":false,"label":"Decreased body weight","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7fe10d6d37fbe15ffdb552cd8abf67d0d9c2b20b7c5016cda35d0ef5877bf5c8","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000496","is_excluded":false,"label":"Abnormality of eye movement","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"80bd8cde6df04987cd87245d23a465d2acb1bb40850c876547256355d0e4b113","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"12/12","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:16049940;OMIM:245348","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8142c1867b68e48d185ee25f0455d996bd19751dafd8371ba0b6991110d1d05e","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004925","is_excluded":false,"label":"Chronic lactic acidosis","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8149c4143f7235bc377113af214bf24b8ab69e39a5f8d71eb2a3898bd5450e75","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002490","is_excluded":false,"label":"Increased CSF lactate","onset_id":null,"reference":"PMID:9266390;PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"81b273cdcc20246a039295d64de4ed2815b5a422ff0d41cddbb8bc6c0437c2fb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0031936","is_excluded":false,"label":"Delayed ability to walk","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"83f38546b658cb703ec97e3668bdcd7f817c6d6ad476bf2bd3cc7015869f8afa","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:614111","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0003128","is_excluded":false,"label":"Lactic acidosis","onset_id":"HP:0003623","reference":"PMID:15138885","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8489f311bdfe7ef39a522db5a8922ced84e886fba35e2a080e8e41d0c5daaba7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0200012","is_excluded":false,"label":"Short corpus callosum","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"84b2e18d806dd48e4448b3faa1e3491b941d8a9d78cf04dd60c8370502c8f3dd","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002719","is_excluded":false,"label":"Recurrent infections","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"84f8bb4ff21cbdea0a742fb62e0eb112d02b72dc402e6116b9b46c754a814539","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002171","is_excluded":false,"label":"Gliosis","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"84fc5f1ffa9ff3c381ef5452b1e785844ce1a0e52864ae329828f2686aeadc13","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000275","is_excluded":false,"label":"Narrow face","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"85302e7d7ebf81885c96c363c8409cf23e77fb89bb8e614cdd15b0fd39ca7bf2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007016","is_excluded":false,"label":"Corticospinal tract hypoplasia","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"868202290ab097a49c400d653ae1ad79bb2f5f2cf1ea1ca32942a11232a2a761","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000739","is_excluded":false,"label":"Anxiety","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"875904a6bb21ab83b356edab7169d4af9f8123a9f3c3dffd090974a8290df5fa","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002465","is_excluded":false,"label":"Poor speech","onset_id":null,"reference":"OMIM:245348","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"89d18a801d3a719b7df47a4432ce533607a5b9da657757947775f1a4ae3fa53f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0025335","is_excluded":false,"label":"Delayed ability to stand","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8aaa19ee3d4ba5490bdf0d550f3519820e00bdd62d8f6795f0a4bfc2e3fd4a67","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0025336","is_excluded":false,"label":"Delayed ability to sit","onset_id":null,"reference":"PMID:9266390","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8c7956a3bb04d12aff07446d4fd96678195e8279e34105d1917780ae39dc4f99","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000707","is_excluded":false,"label":"Abnormality of the nervous system","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8d33010d07c301f5173060b2ecb0884fbca39619ee00bcc7b6ae009741545bed","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001274","is_excluded":false,"label":"Agenesis of corpus callosum","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8dad59b2625f62f6e673dc119b3882311f76fb22a3c8ae47433498748611ce8d","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000496","is_excluded":false,"label":"Abnormality of eye movement","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8df71b83238b514881eaa2936f2ed87ad0245ee5759962556dbe61bed171a82b","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002020","is_excluded":false,"label":"Gastroesophageal reflux","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8fd16fe7c2dc7cfa5c8d5b341d22b229de61c3339611716de2bb8c987b5309d7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011193","is_excluded":false,"label":"EEG with focal spikes","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"903c290fe0a3470784572b021e5b29a4967cd5bd23f0a5a3c4a45048158a6324","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:608782","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002928","is_excluded":false,"label":"Decreased activity of the pyruvate dehydrogenase complex","onset_id":null,"reference":"PMID:15855260","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"93c735c910c7a3e24158312d17b1c1d76b07cf82f3cb5bd5d5eb0204dbe63303","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008872","is_excluded":false,"label":"Feeding difficulties in infancy","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"94598745aa2520b8760913f598ec0dbc7f70aa740fec7dd83bb3f1b7d0d61c21","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001258","is_excluded":false,"label":"Spastic paraplegia","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"959e55c5995650c77ef3906202aa93ad1f5470aba1d1f10fcff068ff6e505abc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000454","is_excluded":false,"label":"Flared nostrils","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"960dc218871d203ae7da3fb22af5446f0ff8df4540e53d4fd3e8bce5daaa0170","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0003128","is_excluded":false,"label":"Lactic acidosis","onset_id":null,"reference":"PMID:9266390;PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"967aa214869ae3ab802458f45a1067232ebbcfda55a1fc8654e081c1cf4a0caa","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002134","is_excluded":false,"label":"Abnormal basal ganglia morphology","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"96b47f61f4b462fd461d2548faa1c9933e58a7eda1aebca4b2710692b67452f5","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002094","is_excluded":false,"label":"Dyspnea","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"96ba4fdf2ddcab1c055d398f95c0f9de3cae647c21e934095509ed869b0b35ac","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001012","is_excluded":false,"label":"Multiple lipomas","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9751175956666523dc9232ba49b820015594931d229ecf8d75b16ae40c9a1524","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000648","is_excluded":false,"label":"Optic atrophy","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"97a90c25eb77b528aa7470be9cd3bc7422f1286386006094c9914553c8efc191","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0007325","is_excluded":false,"label":"Generalized dystonia","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"9901592b3dc3c2bc496c35c246739dc4ec60defe1d95a29837fa60b97316ca80","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007165","is_excluded":false,"label":"Periventricular heterotopia","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9a6be13dee7ddff60294ffb73902db2e84bf2f2c098a3b48c9f0a530653de302","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002136","is_excluded":false,"label":"Broad-based gait","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9a79ba8277af71c33fb26d316be4293ada6ace74edfeff37d1c1e3635a5c9bec","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002416","is_excluded":false,"label":"Subependymal cysts","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9bbb1da95113108ef5eb6b6a47013e796b6a40a086ba549b901247f7fb9d7d80","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001629","is_excluded":false,"label":"Ventricular septal defect","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9bcf033ef718b7c4fbea8f03fb3f574d00635c6a8ad01c3686c70713537ce37a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000726","is_excluded":false,"label":"Dementia","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9ccc3eb31c14e089bc5e37d0078f97723bd9fefeb6e82b175c88fa3888656b0f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000767","is_excluded":false,"label":"Pectus excavatum","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9d59bd70189a8609d3b1a94512f99459bcedcb3987768c33f8b091340c5438fa","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0002268","is_excluded":false,"label":"Paroxysmal dystonia","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9e44354a9e95ca93ba50a34f9c6c62566e9b28029367c44893cdd08b05851d9a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0007010","is_excluded":false,"label":"Poor fine motor coordination","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9ea25760924b20035ee4b810321bec7ca82eea9bd4daffaa809b9b35434da58a","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0010915","is_excluded":false,"label":"Abnormal circulating pyruvate family amino acid concentration","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9f4721db16080e8c12751332c281a29c5a7fc64f50c0571f78e17ce72cf9834b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001273","is_excluded":false,"label":"Abnormal corpus callosum morphology","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9f5542d6b702708491bec21e3ad0f0750029b2b0e181813e8e20d0766a5854ab","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000708","is_excluded":false,"label":"Atypical behavior","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9fb4a7189241ed8db6aec8d4de20a0fb873bb65719cd085a8a72df774837975b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002365","is_excluded":false,"label":"Hypoplasia of the brainstem","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a0fb6cf77220ad912fc4207455e8754ecbf9e754dfc23c136c4eac3610ff6e88","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a178c54113b15e4015af21973419e10bb02437eb3e2cfcc10145a7599ee3e0cf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002119","is_excluded":false,"label":"Ventriculomegaly","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a20e7e95f85c564996c1578ec84effad2ae59cb5af4f7b043f05f4cf796136ec","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002329","is_excluded":false,"label":"Drowsiness","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a25d7671122f6c8e91bca97b8a8e90cd05d10151c63dab6f7d2c2c5f8b28bff3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0009826","is_excluded":false,"label":"Limb undergrowth","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a27ee899434afbc495d8543ee7285c47f021bc8bebb7878355ccbc05b677020c","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0032653","is_excluded":false,"label":"Elevated lactate:pyruvate ratio","onset_id":null,"reference":"PMID:9266390;PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a2ee9b676fdfdb4d3593aaed200ea79eb114a0325798ff10d8176881e2a04f24","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010576","is_excluded":false,"label":"Intracranial cystic lesion","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a3b880ebca17e8d0dc59d6000d75ea532a8cfdce79613f2a145be851471a24e0","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002928","is_excluded":false,"label":"Decreased activity of the pyruvate dehydrogenase complex","onset_id":null,"reference":"OMIM:245348","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a404e29606405b1b632f5e520ec05b822e16b52d9f3f0f2fba034203f4d937cc","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001518","is_excluded":false,"label":"Small for gestational age","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a4808a58a8bf060fe3c67a91e7628d3809ebcd26328f92f7d1a5ea5756fded76","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000508","is_excluded":false,"label":"Ptosis","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a4ed4a6db6c57212828d8dbddaf04967f2f14444bcccfe7f321c49890bd55a81","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000954","is_excluded":false,"label":"Single transverse palmar crease","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a545eed6fd4b59f3a301ce2db1563e22e815246f3460ce85b4bb98c5ff93633c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a7bfa71d61e18a14add1bab62d06c01103894840fa1d054c4820902d422d03af","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002872","is_excluded":false,"label":"Apneic episodes precipitated by illness, fatigue, stress","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a81725b92b670cb07050ff3df9f23b016a5a14391377680aea73f228942224b3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002079","is_excluded":false,"label":"Hypoplasia of the corpus callosum","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a86443cca7bcb7157b16a205639861905f2238bafab8bd953bfaca3c5f19fe3d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002510","is_excluded":false,"label":"Spastic tetraplegia","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a897fa9dcec8afa01db52f7f0e90cfcac3806152dc320498b0a3e33fac41513f","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003128","is_excluded":false,"label":"Lactic acidosis","onset_id":null,"reference":"OMIM:245348","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a90e31670ed6b2d1c9599aa88872fb28b3d63e35e1ad38631ae829d7f5545e88","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002069","is_excluded":false,"label":"Bilateral tonic-clonic seizure","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ac0428d552f0de0ff32b14755a92b3992cce3aecfc274ed9bcc6897f186eb638","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007994","is_excluded":false,"label":"Peripheral visual field loss","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ac7b6de5f01f8adee6040a4921efb170032fb795162067e2e5316737a168de2d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007109","is_excluded":false,"label":"Periventricular cysts","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"acba50fefe143b84e2c44d7901a599f6e60506a54463b8f2871098fc259c62e3","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003348","is_excluded":false,"label":"Hyperalaninemia","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ad13cc5ff796036ae1d6b27ca8adf1eca16a6dd026db99b9159ab00ce4c1833b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0006799","is_excluded":false,"label":"Basal ganglia cysts","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"adf11d77b668f870ece63b1b6b23ec216dae66a623fb28c8c9dfdce0de93c214","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007370","is_excluded":false,"label":"Aplasia/Hypoplasia of the corpus callosum","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ae6b17870ca45a71a94b9a35a8c2e9f59ac656586c90d3d00f76a3462f1d455c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011196","is_excluded":false,"label":"EEG with focal sharp waves","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"af257c6405e7eedf8eec70a3037a419a3a53aa9f74e4e38ee030b78e6a38d41f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"af5531a758b467615e3167f09adb037eac36218782f36dfd7a429baaa2687d69","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"afb652378b5a8184f8251c2010ea4d9c296166be7f68c70cd9cd7c6c300a5c55","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002119","is_excluded":false,"label":"Ventriculomegaly","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"b01b619b01f4d10d281183f1acc158307c9638dba1a87d00b56ffddff6c6d74a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"b053e9714175070fdad95c2d31eb82c42a0bc547d5ffa524eb1edae3f6138953","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b0fa2e1dc977d2e2bb76f9b46fd06c7f48085ba42dd0e4765715e4f97e56de89","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0006956","is_excluded":false,"label":"Lateral ventricle dilatation","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b170c16b208980a659b4e0355aab64e61d4246a2113bd12f4e7704fe47743ae1","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b1f0668743f05b18efb2f85c7edced2fc52469e289183e76c9724d43b4bf6f89","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006970","is_excluded":false,"label":"Periventricular leukomalacia","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b26d65fce5be1ae45deb985397b8236e1a3d889e7a2083d5092c32bc83d68e5b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001315","is_excluded":false,"label":"Diminished deep tendon reflex","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b37f98d49d5e3e406071132f9faee08a89c9f371933837b42e8d25784a07194a","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001518","is_excluded":false,"label":"Small for gestational age","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b3d7ff3550c489949458f8e20b4aff5d70eb16cdb071be7c19d2d4c6935b45d4","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007772","is_excluded":false,"label":"Impaired smooth pursuit","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b413998a72838eb892d169e44656613811b58df2af15708c999d67124d4c8c78","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003128","is_excluded":false,"label":"Lactic acidosis","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b4c181e285cd3f19acb51381542d4e3ac1823f5ca791d57ffa54a987b84133f2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100453","is_excluded":false,"label":"Osteolytic defects of the middle phalanx of the 4th toe","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b5e26858930777c685ae64c5b301b0cb0ef11bbfc00d66bd0121b87f51934b58","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001999","is_excluded":false,"label":"Abnormal facial shape","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"b5ebb4c9e01daedc799da957c64dcc76d510c040365b7a58f29e380d0db9927c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002510","is_excluded":false,"label":"Spastic tetraplegia","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b65c8c4b5d2c90b7b79a29bb688b1cc25d9de76a98f77c1774bc1e0ef5d88b86","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b76c0fc722a03a64c18beb7a9894d62d3ea27dc892d1eae9df33fabe6d446deb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002059","is_excluded":false,"label":"Cerebral atrophy","onset_id":null,"reference":"OMIM:614462","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b7ca2c39beea664815f03d403189bd1bbaabaf9e8b90d5e26dd88eae40d8c3d6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b7fbfd93e432883193fcda0fe8589cfaaa1b10b78b23b00d5bf68feb7ae75b31","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002350","is_excluded":false,"label":"Cerebellar cyst","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b8c085f76f79fcab6ab21c44080b4e658c41a8ae6239d2c0cb755e0a96d7b212","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b993912d0f6afeb39d5d4a7192b0e719f3bb10d9ffb183ff2ac47bfddc5e9933","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b998e6d36d068a42d80a80e6b170089a2afc96111c533cf306b311128fc06b1b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0006961","is_excluded":false,"label":"Jerky head movements","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"bb662b603cd79a746d67d5c49fda5a7fde8b34420eac18302b992d5683b41417","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:608782","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0003128","is_excluded":false,"label":"Lactic acidosis","onset_id":"HP:0003623","reference":"PMID:15855260","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"bc2cb3b8738249fde5b0144d449fe16e8969436c004635446f3186862f171566","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001288","is_excluded":false,"label":"Gait disturbance","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bc7772b3497bc8b82500cc0e31c7ae6d575c603173d2a35b1da4303a2ff59d69","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:608782","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"OMIM:608782","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"be61dca899e4eea577ea7ca12eb9de09cf8dcc8cb79697a4230b2c09c672459f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012443","is_excluded":false,"label":"Abnormal brain morphology","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"be6c569fdf68e2266cda8cb85aebbc73141dd7c696c34f3269651c1904b72331","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0025361","is_excluded":false,"label":"Abnormal medullary pyramid morphology","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bf39886558bc8867fb7add80c5d8650b203255d93aff24abd13f8c5868f54ebc","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002454","is_excluded":false,"label":"Eye of the tiger anomaly of globus pallidus","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c043738ee3367594a20e2294c11dadc314b63c643d74dd95d41c96a7ec84ba6b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007256","is_excluded":false,"label":"Abnormal pyramidal sign","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c07a0ab700f7f3c1bb92ea01d8abc1363d834c82b8a7934155761c6d6e0bc4e9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000463","is_excluded":false,"label":"Anteverted nares","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c0cd8e2015af263f76884d7107edc63700c9896f308eab44b69950efa9083a3c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000707","is_excluded":false,"label":"Abnormality of the nervous system","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c237b517d421b0c529c9d4c4c7709f858767b33a67580206419723a92328b481","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000243","is_excluded":false,"label":"Trigonocephaly","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c2ae2ba694d0c9cb5164052d4155d0e851781b76dc970a7b79ec849790d45746","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002079","is_excluded":false,"label":"Hypoplasia of the corpus callosum","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c33427499227a31939d6dce5371ddeb167325b12abb447a9c05764d41d37d33d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608782","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002066","is_excluded":false,"label":"Gait ataxia","onset_id":null,"reference":"OMIM:608782","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c3d50c44200655aa0b8321ee4b0e3c5793a270579c220cf164c0a723cc3c9f6f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79246","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0410263","is_excluded":false,"label":"Brain imaging abnormality","onset_id":null,"reference":"ORPHA:79246","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c44d9f040a808ae12d6c21f89933a6c70cf31049bbd93f2f5a49e51b10ec0c57","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c5f28e9eb603d37d42acfab679bfaec5e9fa5ffa8dee4006e5d5e126fc05e6af","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79246","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008936","is_excluded":false,"label":"Axial hypotonia","onset_id":null,"reference":"ORPHA:79246","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c6cfe58154454549f1febd656b0f2b70f5e564593a0cee428bb4ed965234c183","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002151","is_excluded":false,"label":"Increased circulating lactate concentration","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c73c4761a6527dcec46adb1556a3db43e7ac5931d5b297a9c88fd1c6fc21d29b","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0020045","is_excluded":false,"label":"Esodeviation","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c74af3d9e6493c89c9733dd3f0d6c14c0b65409ebebfd78bf23fb3e5e9f8911a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002119","is_excluded":false,"label":"Ventriculomegaly","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c7552ef6ca71a7374ead9a100542b9d1ca19f9205ae5b34a78f55ce437df1419","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cd2213b80012ce858c89c6d2659914c5c7fec6c184b8eeb5bda6203f11b825d2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003487","is_excluded":false,"label":"Babinski sign","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cd843c9be830bf5764932a3f5f134cce100f02918f184662f664815e0dbf1be0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ce0eb227f14fd646e6e41f0a8ff03503050919a053ffa593b20cc1f113e96d7e","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ceef5dc83855c63e50207a558dbf4d6b637235402800a265c9f76a6f6c76a487","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0032988","is_excluded":false,"label":"Persistent head lag","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"cfb9d8ba84b0a14f5ba2ee5ce84880533008a7d50a3d420190317a456cc7caf4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d065a3f73292081def5e786be407c3d3363c25b423efc36a117dbec04c28de2f","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002490","is_excluded":false,"label":"Increased CSF lactate","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d1fd5e08c1a25f56d4528fcaa36a913891075a98a0537878b74694fa7f1d2ddb","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100503","is_excluded":false,"label":"Decreased circulating vitamin B1 concentration","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d279bf482c21d89b4f658c735c8542b7145422219cd25482a202cfd44d9fcb81","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002180","is_excluded":false,"label":"Neurodegeneration","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d34797a8e852f4c5f4074eddb98845c4e60a0db34aaad26f57a053654b7dae61","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002333","is_excluded":false,"label":"Motor deterioration","onset_id":null,"reference":"PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d4e57aeeb0a03beb5a5bbd9cb85c2a913564809068568ace4fd78b809403219f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002273","is_excluded":false,"label":"Tetraparesis","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d5eb0b145cfb594b4d35d878a5711f670118a3b89f75def16d89df71a5369506","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002268","is_excluded":false,"label":"Paroxysmal dystonia","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d632d889b506d2c112869f5f8b33916979062896fac73c8c63f178964a34eab4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"11/12","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"PMID:9266390;OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d6a11286318fee32dd08b620e7881a14517112bf1324229d662384bd2b1070f2","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002789","is_excluded":false,"label":"Tachypnea","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d6c8f005ea8601a66e7208490c20fb7bee6e886c3f41fd3ffd803b6725a4fc4f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002360","is_excluded":false,"label":"Sleep disturbance","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"d75b2973307902aa798b37eafbdacaa0dafbe96628660326338d3d8b126cc1f7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000767","is_excluded":false,"label":"Pectus excavatum","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d7aaffbf987dafd2d8a00a2fe921a4734cb8467d27fdad4fa329c595347f98e4","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002643","is_excluded":false,"label":"Neonatal respiratory distress","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d87f3319296552e09f9c1e7a941bbf566c39ca3f7c08ce50372339ee4249825d","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000496","is_excluded":false,"label":"Abnormality of eye movement","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d88242f2ca8fba283544adb5db0db071c5da9ef946a32a147b79e976e92b43b3","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0025331","is_excluded":false,"label":"Upgaze palsy","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"da44a5e784a6ceed51e4f6c10236387d0c0e73441453649e8084a02c8c8ea2e9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255138","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001274","is_excluded":false,"label":"Agenesis of corpus callosum","onset_id":null,"reference":"ORPHA:255138","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"db8ee63ded0b72678ad2ee13285607e302254dbf45c87fcfa8beb4ccfe0bc14a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"dc147e574e65036350d0f3a853bf7dfae606c26493cee0005c0e40ffa3b3609a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0034392","is_excluded":false,"label":"Joint contracture","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"dc3e10e50c47a3fe07e022a7685934459251b8a0c221c13e92ef8418dd3b02e7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"de0079a5d019e8930399d14f502e2ef14cb26b3a9921e6564a1807ffa9be9cfd","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"de412822e1d62343a28d5c66deaeb479feda0534e0c49a08fb9227f42c1b01fc","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"11/11","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"OMIM:312170;PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"df841d9def738f84e21b9e104855f528ce40db93f111f8a660f9a740ee9ed397","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e1472651e03c0aa059836b8a6b6fa6c6bd47ff68b498e945193ae57ce1188375","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"OMIM:245348","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e46c7dca7c2aed9acf726b53c4e9c68b8bd21e461a7fea76d76752a7394f5a58","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"OMIM:614462","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e47af51948f4c2e1f2cb74a59e49da17f6bbf416900b94488ae04aa2d89a9279","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e4ab5a57deb513aa1e2bbcc0a6b1122d9e5ea58393a50a7c6f10752752058b86","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011199","is_excluded":false,"label":"EEG with generalized sharp slow waves","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e4e5569639c5923110d3ce86512dbc558f05b2c402bfc3931b0e465ae51cbac4","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002928","is_excluded":false,"label":"Decreased activity of the pyruvate dehydrogenase complex","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e66c5b7b699685e5e287d8e675d2022b5c18ab8f510205658dc96b78a291155a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002540","is_excluded":false,"label":"Inability to walk","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e83a0bd43e05887238fd30185ff66a0dac0d318a3e5416f45bf67eb56c012cd9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001761","is_excluded":false,"label":"Pes cavus","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ea04a10886115d6bd36875d634fe413cb78e2175668d6ae9015df27f840165f4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"eb8ed38554440b8e0f77106c248b15df86a8a275e2481b17935f95e45e09de6a","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003128","is_excluded":false,"label":"Lactic acidosis","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ec6f504a3cda910df09d9e72ce023c43ead0c805feb6999257ad7c184e8acd70","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614111","disease_name":"Pyruvate dehydrogenase E1-beta deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001265","is_excluded":false,"label":"Hyporeflexia","onset_id":null,"reference":"PMID:15138885","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ed360765fda45fd96c782c649541e2e85894a6469ba75e436a82dde658be9093","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79246","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001319","is_excluded":false,"label":"Neonatal hypotonia","onset_id":null,"reference":"ORPHA:79246","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ee12f535d9830109d8e6e1df977cecfbb6bc160f1734489bd912f203a28921d2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001274","is_excluded":false,"label":"Agenesis of corpus callosum","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ef650ba23ae5653392fb9066f20fab314c5e700dfe46b22ac3b17a32cf4fec4d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012698","is_excluded":false,"label":"Cerebellar gliosis","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f012637e7fc42a36147dcb748ed7485bca3e59ef10c1ef88e1dfa4ac99d0cc3c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f050aa5abac7ef476cdc694fde0799bc948728491e629fe3cc33e4fdcf652096","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001999","is_excluded":false,"label":"Abnormal facial shape","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f0e31519cd10fdd5c73c8a4d1ce8dbdc12388998eea3114c8494f3ef50054c21","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f17c74f66a59c8262d5f121adcc91c38a2d07a47e15073ce2879c2af6f21097d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001337","is_excluded":false,"label":"Tremor","onset_id":null,"reference":"PMID:9266390;PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f1eee2c3ae7f7ae9b55bf851542fb42ad2fe948011e1ab9ab54a8e12265d4a92","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f220987557d6caed8d0ff8a3bf09568198c0d3a1164fc8b3eafc736f702d7d81","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:255182","disease_name":"Pyruvate dehydrogenase E3-binding protein deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0500231","is_excluded":false,"label":"Abnormal CSF pyruvate family amino acid concentration","onset_id":null,"reference":"ORPHA:255182","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f62c0f6bda9cfb95ad21559c066450ab59df7a752c8604b5025be198eea6c2e6","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79246","disease_name":"Pyruvate dehydrogenase phosphatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003348","is_excluded":false,"label":"Hyperalaninemia","onset_id":null,"reference":"ORPHA:79246","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f7c9ec76626f2476c5e3b66836154acb7c79551c8eff5677b43b9e035b7e56fe","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:614462","disease_name":"Hyperglycinemia, lactic acidosis, and seizures","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002151","is_excluded":false,"label":"Increased circulating lactate concentration","onset_id":null,"reference":"PMID:22152680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f8049e37023856768b86bfcc02caf8eb5c669163f4f0affbe7916c9bd8164add","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006799","is_excluded":false,"label":"Basal ganglia cysts","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f827e3cc92849bb9c745a3765bca719527f155fb26997634373255c9e0078627","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f89a112eb44ec2d19e0a8193bc9907c0e9b38afc9e0d7c0ce4ce61673e63eff6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:245348","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fa4ff7d7ca9db93a08c3fa9633c9043dd752ebf1344ffa50f43a522a4cffe75b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:245349","disease_name":"Pyruvate dehydrogenase e3-binding protein deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"OMIM:245349","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fa79266829f53a3ed2d8ac573e21c2311141e372b418b65a8ca800a54214d266","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005656","is_excluded":false,"label":"Positional foot deformity","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fa8d0a362201bf8fb7a8e6c40183a06eaf402491011c889e040c3963b13e80b1","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0500231","is_excluded":false,"label":"Abnormal CSF pyruvate family amino acid concentration","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fca48e86364f3fdd4f7e8a60c7facc74be71a9e3a97fd1da5d9d33146c8e9e25","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000496","is_excluded":false,"label":"Abnormality of eye movement","onset_id":null,"reference":"OMIM:312170","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"fce26223c232ed4f2abd5084dbd1da06de083b3c4e989242dd8b677986194108","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312170","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"PCS","frequency_raw":"11/11","hpo_id":"HP:0001254","is_excluded":false,"label":"Lethargy","onset_id":null,"reference":"OMIM:312170;PMID:17043409","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fd095b5e3554bed900817f13f6db8a412918968818641c07218b6ac37a547ef1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79244","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011098","is_excluded":false,"label":"Speech apraxia","onset_id":null,"reference":"ORPHA:79244","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fd8698b2f67cd8424a35cad87529bdfec5ecc4bbb3519a3ebb901e9f20823cd3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012469","is_excluded":false,"label":"Infantile spasms","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fe26ec68ea5f3ac8b31973c60c5beb5c5f31775433fef26a76e52c9915851a79","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:765","disease_name":"Pyruvate dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001254","is_excluded":false,"label":"Lethargy","onset_id":null,"reference":"ORPHA:765","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fe5935598ce0f93e875e4612b37eb4acbff16fc9831f92bd63bf501703d6b9f6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:79243","disease_name":"Pyruvate dehydrogenase E1-alpha deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002126","is_excluded":false,"label":"Polymicrogyria","onset_id":null,"reference":"ORPHA:79243","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ff930aac0720ebeff0ead28655a4432ca0cdb52edc060425358aeec78bd9bb3e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:245348","disease_name":"Pyruvate dehydrogenase E2 deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002307","is_excluded":false,"label":"Drooling","onset_id":null,"reference":"PMID:16049940","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/pyruvate-dehydrogenase-deficiency\">Pyruvate dehydrogenase deficiency</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>The genes involved in pyruvate dehydrogenase deficiency each provide instructions for making a protein that is a component of a group of proteins called the pyruvate dehydrogenase complex. This complex plays an important role in the pathways that convert the energy from food into a form that cells can use. The pyruvate dehydrogenase complex converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. This conversion is essential to begin the series of chemical reactions that produce energy for cells.</p><p>The pyruvate dehydrogenase complex is made up of multiple copies of several enzymes called E1, E2, and E3, each of which performs part of the chemical reaction that converts pyruvate to acetyl-CoA. In addition, other proteins included in the complex ensure its proper function. One of these proteins, E3 binding protein, attaches E3 to the complex and provides the correct structure for the complex to perform its function. Other associated proteins control the activity of the complex: pyruvate dehydrogenase phosphatase turns on (activates) the complex, while pyruvate dehydrogenase kinase turns off (inhibits) the complex.</p><p>The E1 enzyme, also called pyruvate dehydrogenase, is composed of four parts (subunits): two alpha subunits (called E1 alpha) and two beta subunits (called E1 beta). Mutations in the gene that provides instructions for making E1 alpha, the PDHA1 gene, are the most common cause of pyruvate dehydrogenase deficiency, accounting for approximately 80 percent of cases. These mutations lead to a shortage of E1 alpha protein or result in an abnormal protein that cannot function properly. A decrease in functional E1 alpha leads to reduced activity of the pyruvate dehydrogenase complex.</p><p>Other components of the pyruvate dehydrogenase complex are also involved in pyruvate dehydrogenase deficiency. Mutations in the genes that provide instructions for E1 beta (the PDHB gene), the E2 enzyme (the DLAT gene), E3 binding protein (the PDHX gene), and pyruvate dehydrogenase phosphatase (the PDP1 gene) have been identified in people with this condition. Although it is unclear how mutations in each of these genes affect the complex, reduced functioning of one component of the complex appears to impair the activity of the whole complex. As with PDHA1 gene mutations, changes in these other genes lead to a reduction of pyruvate dehydrogenase complex activity.</p><p>With decreased function of this complex, pyruvate builds up and is converted in another chemical reaction to lactic acid. The excess lactic acid causes lactic acidosis in affected individuals. In addition, the production of cellular energy is diminished. The brain, which requires especially large amounts of energy, is severely affected, resulting in the neurological problems associated with pyruvate dehydrogenase deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/pyruvate-dehydrogenase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Pyruvate dehydrogenase deficiency?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/pyruvate-dehydrogenase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"pyruvate-dehydrogenase-deficiency","sourceDocuments":[{"name":"Pyruvate dehydrogenase deficiency","reviewed":"2012-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:37.137611+00:00","label":"Causes","pageSha256":"bb425430a9bb8cc04507e578f758cfe17eee31f65d4588a395a70eed742e6a5c","sourceUrl":"https://medlineplus.gov/genetics/condition/pyruvate-dehydrogenase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/pyruvate-dehydrogenase-deficiency"}],"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":"Pyruvate dehydrogenase deficiency"},"schemaVersion":1}