{"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:0009143/OMIM:224690","label":"Meier-Gorlin syndrome 1","mondoId":"MONDO:0009143","onsetQualifier":null,"recordKeys":["01e37009f914064ef2673f42796565c24769bf8400c2591116f5e0964ab3d35a","029b0d6878ee5bd38a1806b8e59e1d4ce2089207cb49810d42de9a225507b12e","09fdc41b6e26d57271732ca65e661d68798b43df2a667ac72a216c6603b507a9","0e7e0e46df17fe62a2d44364bbbf42a3c8ae79920284dab42049ae06d0ba28c0","0ec8bd679690d555fcdec7c1cd9b88e442657947b2f1678b5749c4225f17393e","1518518b4f3622f4c9314bf08f2508b3428df9287def6033ac6de1ca20a999c3","1eb031ce5bc83199ce5fdaf8f191c11a63e6703579f7374817660091cada4bae","236087c5b4fe11403aa3d0aa3db6dc10590da2d4da21db26ad50b623056c4ee5","238253cac9990f4c7643bab1fef3b39f19109268359e7703d6fb9349d56ac939","244342cb41181dcd33c7f3e3bfc6abecd916b04530ebbe2369cb782b0897c941","259d90abd155fec33d7858d9f0739a98a7c5eb6cc5670ee09245383cdc59229d","391f2bc3b40fefb3104af3571ddae24ad2bb7fcf2a552caa814c3b51726bad93","39d7cb21644d900cc694091a21bd1d418ed2e128b8c033da8e1f7686bfc44842","3dc31f512f6470c49c0fef100aa805b5cd0396fd1a0c6bd98c7938b2437cb735","410a5a9d6764910393cf70a8a62fc8351490bd636e78754769de57c36b259799","4161eaf642c0241a43adfb1f15abe6bddec46cf613fe3977aa9591add671faad","41a86f923a361b180c70994fe802baab72f855fc73d53239b08f95cca95a0ec3","48a05ff3358519461599318a755ea4ca51dad4e9ea0f66a84623813c0a79640b","48df6b517ab61d8ff16c0b60b3a90bebe9e2fc999d9f9b8bbbd5ebfdc1e3df0a","584e377a44810c88b0e92eb3980fde19ff5d83caa9b06e06204f230573689752","58ad4fbd8afca86f779dc7c83ff8af42e286cd31072f286a690f1d1edcc71dfb","5f24d9aefbef7c629e189840b139532a6a3900d1304647af7d8efabea3d232d9","625e382d9f5eb33b0895550eb36ce4fa4ddb7230b7480f392bfcaf915b553a7d","63ddd57f9b0e8d5dca3617a0369d25abda442803b19dcfbe846231ac1e149a2b","677d79fd68c74ee4a5fdc5ba313b809a5467e438b1320c308c9d158afa20bbfc","67baecf57c90aca2f64d9b0452d740e183fbb91e32ca8f6dc3e60a035026e24d","6a7e1e9e11d079cdc4f99d363ae46b959e8edb231018ec3e16473e294bbbc275","6e332cfb33cc6e30fabf75f71871e5c6397e7ac4af93538ad043c4aa26f2a483","70c85eeae20d8022cc938e5012a5bb9f21fe2ac77d29e43d0db81165b546024c","740c8dba89c14048a15620bfce60cedcdef2261df33348342ae2223c59741b0b","7448dcd44b38179f72eea389549aba7644dc2fc94f99fd6523228324c9a21a07","7451c3be2dbd5a11e86f4f18c3a791b1e9c26f3f25ddd7fb2a9f6ee60f8e9928","77658575696967cafa709b8a5e16c2304d3ceecd2109a8e6466e188cec9b55ef","7d97d85b899ba3438189d98afb8e4dcbff8e04fae3fc6a6126ef8b8329a4f724","88ebc82073483970b879019cef9160af176ff9639a409eeddd397b331c3e55e9","9165efaed94ad216083b5643b8a6e4e2fc759a2df48dd08e693abde4d1ce7237","91803c5bfec849ce6455ac9ea7995b18b02c79c471555536dfc0a86d36935036","9ba4450ccb06e3a823734120e4bbdc21a13fc19499970611346db6d1d825ccbe","9f70fa7797f8565cb315dfc13b2098039c645144e96ff8a0c73f46e7ab99981e","9f8e954265efe20c681b3c316760ad4b240e6af279e6cfc9e41b62281005ce3a","aa396b37dfa4ab7ffedb3c68472a8a42bb107447b6e3d6ea41750126a4496620","af80831081ef24d5136ac883408d3239bdd7ae85546ca02c883726fbcb961944","b1dfc2dcd75a4b82847834a5f6b811af1b7ff8e1161a7904d9e96061bebd9c07","b5278670af774a1a2bf23b829adc948e69f7a9eb31af464d5f43c8aa784d90f6","b58b32c7654b6b0b87c82b8cfa07ba2d4ffe62c82ec553b944e18775ba6fc0bc","bc133220f5e9545c5e20572b908af4688aa1060196734825b274a23e1298535d","bee64a5a3672c369b05b5b1682db0dbbdae532fc44ff3fbbcf64c8f09b398d3e","bf2741487b617010e989fef6cc3a5c10add4dc6b1493f18093f393c7beed0c1e","c61bc2e93a13f750dac7a94baa11cb38387fcc91835ab7c6d8812c4de236071b","c85b65c9abf012675293595aa4bb43bb16c30361ae2f7a9ece43d0f3cb3ddf37","c86788cdadccb42975653c73b28b9ae437177f088624000280dc79de7a6c32fb","c9e3212afa647149cef1a21cc6b09c908ef5840623db442ba1b7d364bf688249","cfc442363fa73baa5111a8ecc86425bc11b1d53b36eb52803ef1119e3f88a9c1","d23f7971b9208eb40490c316da322bd6c155e94fdd0a2c44e023bbb455abe298","df12e4c7e1d6b4ca90e006afcceccafbcbf694ff7f7961d9b0e1030ae129723e","df367e82362ba6dc09983463eefa400ce7bb52fbb11bb0f6db3423190aaf1021","e6af2d17e6bc4ac81c1cb29e41e43ffa72c8622164e5d6d9b2a150760dd0aed4","e79aabf24821313bc1ea2ae9a194e5f222d85c72b9cab8d80eff0e039dce7005","e917cd3a0f5e2a30725175822586f9e0f52405913410c2fbd470c44170698158","ed33290ac32565f0d51eb6e6654469bcf5918fea2d4128aef6703f378ec94fc8","ed907b6854276799c122af403fc4f171d0f129df121a8644653db63ee3a55afa","ee088d13ca797a8a63e8647be668656a6c5716f2caf426eceb820620f605e067","f4dd5fbb4783c11e0d69aea79b17a27f86761a8ccdc279a3ab5bc286fcedc84b","f5bb03bbdb663b8be3ca67b5a4c8ee7855d31da21c157cd7b84a270ef5b10eae","f7b566d95e953f02074eb1ffacaca6cf568c84f6238b72fc8c8ff608665263cb","f827d09fe4eb0aaff3be4ecd895415b7f98fa021cd0a55c9da2fb71aa7765fa8","fbf6872315f0143dcaab77b2e25bddd4287a22d9b4abdc9493edc46746690b61"],"recordQualifiers":{},"scopeLabel":"OMIM:224690","sourceIds":["OMIM:224690"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0013428/OMIM:613800","label":"Meier-Gorlin syndrome 2","mondoId":"MONDO:0013428","onsetQualifier":null,"recordKeys":["00f702af925458c4f0bb6d0e9ea0263beaae7cd0eadd431dfc87358c08ef1a44","01aabfbec87b33cdf5e75307f6f9608f5d8cc5ebe6618054c0c98e94dffc099e","01d248779b1e4231d19edfb6e754f1257762f3ccb9668509a73d6f06bc6e5045","1a8dc6afe4eb433f36738827714a79c7c57bc5b5b51163e826ca2827850b7aa5","2afe0ee35d16cc5ea344a8a11900b075a30feab426c70481e8a70bf735d2c64c","3219307c3930d8468c762466d88840e37d307bc23a2baeffb9d142b1abe255aa","32b1046636c8be461adddb8fcd197ce41f5564602abdac53aae931a52725a103","32fb2529f20ac0e83b94499d0d61d4013f82ce30fd54fc633652aa6a4585e316","3e9e4a95b64f9500f8048ff4d367901d7dba86016f3c7d34ab87dd729584aa08","4fec0737ac78f9381faba782eda11a25f0300ae1f02369c00b7a18ca783e521e","5bf57f5b89680978ea46041216ade76cf3712ca07d6cfb3099138317c026eb6a","638d912d0769b1b05b6211c4584d57f58d53a5a09c96163b8ce87fadbe885c55","6fdbc592d1b21c59b5e4347e7f6fa05a7dfb8b314ac8c9fa8d050770e83a4761","74765000e3df2fa6099448bcb9078e8b40a7b5d125d0c94e45907358068af4ee","848b09538c3b02b7f1b97e7fb2285607b7539d3aaeee0d2034dc2bc3dc98cd0e","8afdb157925697412935c6b527828dd3623295026b9f722c55fd67bba3058e14","9d9ce64a6e1cc0b41b70d8218d77075bc67e5ce63365c6e55ffdce7dac5d585d","b75a38234de5d40d7d67306986dfc4dba6a9586d2d0a7573cfd927e748c22cc9","c6c3dc02d2d25653ac5e3b3755bb9ecf3b14a17030e441e8c8cb893176ff3729","ca1ba613ad6cdef69f05f6fcd628ad84b8fe19a65365620e77bb9745d1c1afe6","d1dd4d395466faefa3d7903054f04befd0ed5f1cf7986603056dde184b54bb53","d3eaa356b23481fcbed983151bf91a42f03d8b8855147db43377044e6340ff88","e6a800a76376075f1f481b607e1245a2fdab3e0254583507fb750bdfc6b38970","e790fc60673a25c53edca0a7000dcf4326597a22a190fe28f17e3ed3feec9022","f003a018cc3734782edbbd9c83dd3ec885089fdc8665ae2f23a4b2c767efaad4","fe68dff7339a307dc8e5ad7e549d0d5a58db6659676783d2342d22b1e4968717"],"recordQualifiers":{},"scopeLabel":"OMIM:613800","sourceIds":["OMIM:613800"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0013430/OMIM:613803","label":"Meier-Gorlin syndrome 3","mondoId":"MONDO:0013430","onsetQualifier":null,"recordKeys":["04268bb53298c1aa75609bb5cd61514f05b2f7eee37ffeb19cc3239bb7874c56","06a40bc5ad662b9842fbc2ee622a484eecf45b636d2dac012d87ad2dc2be4232","19c2cd18e26913409fc9c35b127bdff8e6e4503d9220fa3502eefe57fdf0f974","1a4f961524b66951c82c7db08fc7fad75d6a7b6d776a095ab69b9dc9bd319ac0","1bb8acd5e6323176ba9853bb91b67e7c4e3005ace70867d5a707b63712b71498","1c18eec0e0d9164dda18ba4ce5aa5b7a53f950abfb3ba81d6234a16229ad51cd","1e283cc56f5e66962b154de58a152b6c2bd2f7b4c11e231911f53824c1f874f1","275fab2849deafcbdbd40dbc4651254f4eb5ff46ffd0a3ed327a2ccdb93c1e4a","2f8e83a2359af1ca77a86fc24ce15d0f86965cf4712206c68c9a7d1dd6bcd32c","31d16b7f1148a614d0ad858c3dd139634e1105bd93d63a4e26addb666b60a991","32ff551338624790c53449bd915a1f080e5972e7119738d97ddc3ececae3d868","3339d72b5c5beaa9c411b399ee8701b2e817ec84486810a7f86859150720f405","3468590b00031b024ef7624eb40c1481857a97c5e9d0be4f654f4afec08ebf7d","36fe87e08c002b54db14fdb3f643196d5865b91ec61639b7da78d704d0abfdea","3741f091a83419ae52fdbc0591b86a855155e7091c1846661122126d2d701be3","37b37ca4e18015fe1fa50932d87a0902d99c0d832604cbe5d4a3abf88c7093b3","392f9d4de4de552752065e55fcfaf6b0822031298fe78f21732bebe60db1c367","43f4fc60112624a74329db84aff0b4ec75fc36dcef9dec0475e0bfe196b6b1f8","583f2cb81ad24f6737d7ac4fbc7d9e952e1583b2ade11c44cc1fee44a48de8dc","5a5c89a31efc850e6fb81442a46f547948a197316c2a7416aa06c700167398e2","5e63a5d61add930e994a09a2981599b9e0d370f09f6904b4176f23dfbf8017c1","62fdf3db0865bc2997e1e30d1d2e9452986c86d5e0129c8bec7f57325d82e1fd","657b7ae0b9299947f12f9042a1704e5a627f9303551f059ffcfc32188460dc88","662f0e05a570201d94b90e0711d98f0915205a72b90da800f840d2d714bf7bd6","69d11166f3625eb962df8b8c3746c693cc57b9ffc528e69b4126ac7bf5ad255f","76c9788f867c0641f795c554413e507942d4a23c42043a934fd94fee17383ce1","79b11ae1941a9354cee3663e40894f0748c37e14a91a36ea0c01fb422fad8366","79f75433b0989d498aa9af2c3c269c11cd115666bd24ef06ff30bb9d11fa7d18","8fcbe12e958281705e6795e37a1fd02008683497db6bbde47ce7ca21c1659d86","b10419c2cf3650c66b745e91cbf5ff661ff2c6bd21d65a2a24e0ad2a5db33ecc","b77b606d27839646f1a40c0f00b437337285792b46506c7ae810965815587ec2","b8952f1df91b5a6a897b9deabfe42d9d02ba6b564aa3051c34003bf079d2644a","be0056c0c87b02c62e327ace056e9383734c79ea44667ddc7d230950ddbd9a2b","c1447c9277928d98ce468974723dfec8e859364b6fe561d31d2a7b4f0faf3f52","c2ac7c7a3e0b427df04963148a5dce69edee23d0726f0a587574f40bc20275e7","cb1f9613f879566cd0025fb77dc8b3d18f047ce791ad9c499337125eb1134f98","cb622b934c85af756f2c5d5a384fe5e9e6d5997e95b20c177bb784a98c464074","cf4564b7c219703431fdc79391bc2d195ee44d76ab6ab89237d61bb0b3465334","d361b7e97802472c3561accd36db3d5b4e45a36505c3c9eda3b26171925c60a6","d4f840fe6c0d50407b7a0447daa81955583bfea41a326aaeb73689f54b21af30","d6dc16027c397a0d3da84179fa3c120fbd283296d677b5acf10756ba40291915","e3e0f33497a84a45f6cb986416352c2dadceb39dfa6c553164aa30534941b66c","e47e1575f59e5bf39eeff1b5e0dc69e76e2a4f2deb3a50a11bf816fc6e1bda54","ea447bb394f5541d123d7c4e52a79dbaf5337b54ef1aa967be619108d5602659","ef7c428954b7b50e4ab286d56f7154f100d4cab77286c26f9aa2b92cdd286ab8","f668f55cffdb7e64ac2b2f7f4e704388334b6cde06be21bb8efcd1957f89d570"],"recordQualifiers":{},"scopeLabel":"OMIM:613803","sourceIds":["OMIM:613803"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0013431/OMIM:613804","label":"Meier-Gorlin syndrome 4","mondoId":"MONDO:0013431","onsetQualifier":null,"recordKeys":["15389f5b30884f48cc855f8c6b065ce1caf0f8f064519e1285124a60926bdd7d","1b816842059cf1109fb9b2ea757784d6ca55dc591953002101f47c9178a8f5e1","1df61fab76a280748498a5e9056de523b735829dc38bd2823ba1a0052269312d","249d7fbef1ecb40caffb94e2cc1e2744321623534b60c973f53aa087a4c349d1","365ae7425f10bedca6a22d504c127afd7a6e3835e953ff885875be8c7a231221","3a25cc9ded3ba715f3b02b06bb68e8177473ed4efe8ad2d39797a2acfd664ada","3ac372cffb78dbd66b06f07ff10e433e086bda6bd5818a4aa095cdd35a1b074c","49aa30e63338f41ceab422fb56fde722291252de9993fc9dad520eebbfb4ffbb","4db7395953a5ca6d8e1bde76e365c4d146a80cd5e96eace97c441ee7c01d79ed","6f4fe4ccad2058a71ea5c45c4503a588116f4969ba70710ab9b1b34e82e0ae69","7ee48d9749e46a7b90b482dc6abf2bf90e8878060c4f69a9857a0c895835e3a9","8048c150870ab244d9d3d45b8c35474f293a3caec18f48668f3c3c0234c9615b","8ed9fb9c616683650b48261cb02a853f29ff3d9a2f0076433c2c61181f62ce14","94ed441b09be17cc61cf98bdf1ac62df713052a0720ce6983c4e6ca1d3f8a302","b10fd1794966600dcf92b71b567bcb6da5940fdb39ecc60373672a5bbbf60dd8","bce80a476ca0fc08753d1f08fe540a525329274880536f232649bbe51d189a9e","d1be7084b5a97cff89357226def7289ed9ce3e1b8b6ee2f50dfb0d3df1e14cf8","d66b25e099b4b49264a82a783f732ba1e8f75f755cb29566c8819e14ce9cf74a","dcf5e900a3bfd06788f6383184d113c5360f4f7c71e045e56b6869852060d339","e3d436e251564f5e9e3a582b6f178e08589103cf3ae78107325c93782fcf5ddf","fd4c0014153aa9b9eff2dda25c67a04c4275e27fb9b9261c4987e144b645b28e"],"recordQualifiers":{},"scopeLabel":"OMIM:613804","sourceIds":["OMIM:613804"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0013432/OMIM:613805","label":"Meier-Gorlin syndrome 5","mondoId":"MONDO:0013432","onsetQualifier":null,"recordKeys":["06137f2e021150bbce9a43d5723b0170d0c7764d82afdfb43d613d529a6c3c79","1c422f6448f513f3db7701fc9f3076ba142c413e35deaebe17c2d261a6f87848","1c8851e9bff6643c20ffe0a9993a642a805102293a08c12f5f0fe32b04b11192","1dcec349a6dda26bb7fa89e03232799bd4a12283c9b0063277bbfacddbd4efa9","1f855d22eed3a99cc0f241758235d9dceeb4f10e33ad1ac3d1ada94dca51f876","353772380995a02c926d6926ae49318d75c072fa102b15208f00c76ffdba991c","3b486606f7277a7acf23634eaa35ad1a2de142634627107f52c438a12093a093","3d35430084b8f4abec13d05e98da2d623631cf74fd65c16c84390992a4761c92","47b9eb3f3298776f569301078a322f72e73db20a751d2a18b05029f318ad5e08","49f2ae1d1b96280a82334caa2f34c58dbcbb098d8f051f8b6cdd074e1b0f6849","596405eb5ffbfbc787101d8214d7024e9a771d2956f22eaf13958411286e5bc9","653d21c58e5fa9da14cfab6016200003e137071671e252755fc0f60b055ed6c2","6a544115e4caa64f9c49b1f392b49ec8762d1f907578d7b02451dde4b093b071","6a9daba8cf42a6c88f2949e1b0c448c9197e771a3b50305d0a96cf8af732e2e7","6b29e08c7fb6af8cf4fec87710a1e3e6c8166f4052a9fd78a2e995f7424c4a9d","75c600b988344f523c2100693c892ef183197c7c89e6784b2b78b02bf3a08d43","7791c2e7b1d0deff4328cc1d953b5e949275f7681829cac079f75266f42b549c","7a89e160478f756a31ee922e31ee52147db541e9fc7cdc9b6bbb8bbb95921a0a","7e61e0e8fac38b637d962a32ae13428ae1f62613729469f17da18730338ce861","8f3b07e8915375e63492b94edba0b030787b72cabd85d99737af3a0b60a6ab07","93d8eac509e2dcdf2bf750f40c87367b7085724e27daa2180e58d83bacf06542","97d0b70bb18d32a3eaf9649c90df193952f2633510e6e7e79cbaad6e4766183a","af12e6e6d75ad2d8f1f56f7436e9744b12a85220a53e3319daf5803ebb5ac09d","c0f1cfa2e3ab917992c42ebb7eb6f3967ebdc6359bb8b968e2c909d3a9f746af","c7c8f7e53099d28f7b8f77c4895b19ec8b6f92cfb5a4a70ea20d4c4d277b4998","d9442b017fc62ee23f3e831122b181b058d4d80bf53663de455c9bd9ce1e3196","e0b2f43819f7e9ee031fd47e33dc66d8b76dabbb84c0d9994c763709403e175e","fdadc506d60541fb496ca5238493b5b65e4abce3e4cb17ad6541ba09bf56b55e"],"recordQualifiers":{},"scopeLabel":"OMIM:613805","sourceIds":["OMIM:613805"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0014794/OMIM:616835","label":"Meier-Gorlin syndrome 6","mondoId":"MONDO:0014794","onsetQualifier":null,"recordKeys":["00e9dd219fd9fa1474b58ea139f609fcd89767a54a8ec86841d0f871ea95ae54","02ce373522ec68287c16c10afd1dbb78f3545b1f0dd1ca82a39e635b0cf77348","099c9a7e65b16936d0b8b6f2ab0c9cbd50f0f2bea368d30de51701da38fdeb02","20f8b2cc130446fef21a8dfb97b877daf6264eb95c511fdf7f708349a7a9efe0","23783a8f86b549265951ed9e97092811afca5626abb69f4385a05089f7af73d0","23825289e1a19e449985e6d86989dd781692ff7ce437d00c1acfb37cfa00e703","26e98beaf210fa5d6282a57c5e71743e0ae75c983e9189f08d11d797364c7106","28444c690afe97ddb8bb525c3249b3a2c45ac8c7ff46ea5bd8bd9896c49b594e","29f4a081abdf1999142df5051065754713efee325db8912ecdcb6145ba50b50a","2f5731749ad1fbdfaad695f8e1c0bc2580986663aea2579cf3d24aea0ac8eb16","30294cdb6af9656838831a375cda77dbaf68e69c0f8db4f10a711af164f08b35","33dbf889802433681e88f0d68ad0b5d5fda42949e545f7a9dce6777f80006470","44dbb1604d6d31d41bb1b85e8b3e4365c9d5088fd43c8ba928fda949d5c0abde","54b5f7c7cc9bbde57822a005463179254c68a93d48915d78721a8a8c837661d5","636d4efeb2507943009d48b3c69d4b168629034f4040a2f553d8ba5bedfea73a","64f39bd302cb869a1362575593986f7097b54bc1eb1e2b8c7b45da3a0af5c709","65fc7a17432fa42b6c1e4a0253e195c3653d029bd0df7c6f311309d92fe80197","67c2a566deeb566be7681869d2385c7dc547deb82b0c9645704f4b069b444c50","6ff244e1f2945799f8dab2434d9aa96aac4e655777e29fb25cb511c8c299aace","735dea698549029649369efb964a5c010240d1a41d82c539c13b5ab42ab99192","7963fc3d880b9a49cfb8743c2915897c35f29887905dbedcdd0635f8a2dfc844","7c0ded39b51b833de60cbd6f844112ec32a6f60fd4991c24887d5c36517cfb4e","816846fe107b705daeb91652847f6a90793383c42f6712ae8b752167af2132b5","81c7682c1afccb4fff1bf03400d5944be8c66ea68b5cd2af974ba64c3d4c5446","81c8889d5aca498c170e9c54a08242edb5c39d459327df9eeb30df66afcfebce","882c36afa9f6e188fb2514b265a3335150c40b06125d54b58291a007d0072538","8ad1aee8ef964d589325477a04ab0b9e867f3b9a71c2ce1f706cd4b1102004fd","95a78c58e020c60d5684a72d320a9aefb01d10f22ee64555ad6d40ec01061d45","a5d1accb0aa0fe3418f7fe699d201024473fa33356cd335ade7806a3e73cada2","aa94b12c7d5ffa71a0ee4cb519350b6d25cf1dc9fc46bcbbd163e48c4d0bb19f","b55e902179db80bbb4745325be2da6aed8ca6cff65d10dafbdff1a90c48f102c","b5b7805ba49c8d5144e35a204cdb01408777b196d0f1bf75526d4a452cb73460","b7607c88666d93db459c37f8b8134ea2fd3b9717c4ca498eabf3630af56f90f9","bd0107e2603eaf8fce22a681672c984467b201467d467a33cafb5967f6bdf84a","c20f3074090ff9290dfd8101d98d8c1404a3d9b1686dca4049c617def72d5175","cb61e54c8afc067738dcd391d7bfa28e542c6460970d0293dbab5d6d339da120","cc569c98ba80e7d2b665cfaa1e2725d3b59272dcb19dc60d9fdcad99558f782f","cf0c6fbe228d842f80d244f6122db3f04594388c44ccec0e88dfbcafd05a65c4","e3c9e71ffd0683811d6d6b71ed8655e206b718ce33c05943e591a736cc6b1793","e3d56cb5973f9d62e568a9525b8bb89e9ea88f51d86db755f06f34d88d56818c","e5a7000cb8837e0e8d5e11296ff5016fda003022578d7d0c95fbcf001bb4e4c2","eeb3a45f5209d628da4e9871d6675dd79dcdb78800bee83006c8dafceb22125d","f8283e416fc0307809812846005ad7edee8b338605323ebaf5baf46f530d3711"],"recordQualifiers":{},"scopeLabel":"OMIM:616835","sourceIds":["OMIM:616835"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0014894/OMIM:617063","label":"Meier-Gorlin syndrome 7","mondoId":"MONDO:0014894","onsetQualifier":null,"recordKeys":["014d3ab1904e2cf3ccefb5375157b6a7577838385ec98e595adab57a40de5b07","118b374f6ddd072b69a3eb767a535bb15908db6c22eef335a944b28a2d0d03d5","1633c44d84a1278b71b44cb5b833f5777144b2aa61caaa6853735e0c754a6683","185574993b0cae92f01cd7b605887cf3fd1370bbdf167e3fda0965b91a032f34","19dc495924259c09d952ae20ee05266d4a1ab3141bc333cf2a4ad8adda4df88b","1c159af5a5a53d549ab96ef201c7c29923302564612a2fe5c11ce37c894cf51f","1c7e237a5e96a55ac8614b070e2214f93a0b924ef7f4a6ce5fb9b30d4535bab6","252e383adec716f987bf6618062c51c039ee41e3837b322b2367f7cf732fdb91","26c31f4385e166a6d86c20473022baaf1e4327c7c756a2e072a8d69e7f235c2d","2db513ada100122be6eb9f1af299d804357110021fff7e58b2c0c467a2bdf3b3","35fe12fee226ce27b9a50905945e62f5127c060fb13770ed8f1416fa83306a37","39591a792ede95c4e6bc425c75de6a6e0e763c2534fcc4762c5b0f2922a37e6c","3dbc74e2d34b16510f520e09b618ebeaee3b3a59a39f58a958fdf2caa4e84740","4a0bb027462359e37f308d4606645bac02473c626362c13c8d305644c82c7b1d","519260e472b20cfbd37bc13ae710d18d8e0aa673c1a17a664b2dc685068d9917","56b0f3752b4cd7b7d0f8e294dad8d3b35889e9949a89e8471829ef42ce013a3f","5db0d5cf62e0d799d53cb639605615f84ff4860369121392b23b97a46b3e62bb","63c4f7908847f6c9348e95536de5159f25e619fe08bdd7a9b63adaa754f1f83a","67152f7d5eb7fd91032957d990228b7dbdb10d2a89d51efd4275a538be31489e","69e91ef0a0e69f3294f74e34da756fa5f9e094e8161b4cdd79ab4fff79b23815","6b2f3fff42bbdbc5acb50c35ff7e88377084095c337d67338de9f749616ad569","6b7a2e26e08ebfbf272f1b6180d84a17c9a619d4a2c92d1dd354b0e06131422f","760f36eb62d58a4d08061ac16a0aebb07760ed10c1bf73547ddfbc916493203f","76d76a7d4a04649db3de38868d56abed82b0fd01276988c55efaeb8b595a7100","7701f142b0ca9f926ffa98d78f69a2d3ad5428655d7521d8ae81c426673b1051","77ca0177042d95e722c1bbf04abc8d735e142e7bb250b011b50411f0d5ab11ae","7cbd30ac3935310341b40ba6bfb59cc7d20c7f76578a350348c0f244e4a3b8c2","8a906000b939ce07f761ac7c627600c0f7fae5b9f6cd879f647906ee4d02bf62","9513cc211a6e297b375eaeae540d5f0a8a94de75803a2e38c69ddae5e474e9aa","9baf9be0c04604b7b20843d8d3f861cdf84453db013db9a0225a994d8771b4a8","9c07ae830e54b4ac498195bb26bc1d442094cd8e00e3de7e89c2671d8e25cfd3","9fa9a49dfa69d3533468b92c5c6ead9ffcae408eba457c798a6909fcf2374fe3","a6b66e739a53e24d4746e7f3e2cf5ebf20e5e8095fb300740470e16cc4341330","adabebeb4edd0d179937c0ddff22dc54f9b27d1bba314127c6579f89fab8fb73","af4102458a0476aba1de486743bd8266e3a57136c8c1fdaabda5e7cac61b04df","b306fd3787b702faa14e030cc84a5269ca3354f5f8c372d641084ca970aed419","b30b0f5d9d8df8877b4137605be098e66030acfa3192b2cd98d0096b50248611","b4a6fa1c7f57f9049ca2d767480147a26c871fe46345ad4859c980091e5beb2d","b73cf647a1a7f27135142180575e40d4fd3981845d995f447deac4ae2da73168","b7bb2c7489d3d1d8c6582c99272d2a281220dcf0879404fec87273d23886b942","b8e97fac9c394f732b443e6514cad37788d9667e6c5bbd0f23b40b551cccd560","c1d7d830765777c5277e1b78fd9726ae6be38e9964605b4d7db6f1a232c1831f","c1e5570d751697449c7df15f96b51e7218d2cdee5e19c3dd1d93278d68f0f606","c3ad6a2d0471e450634b16785cbb45dec60a658ba6a28a42268d3f2719861871","c9f76913b6434a9fcbf4c4f5d1642651bd00ad3fe5fe9cf189e67b29818edafb","dd428739a58953936a5d4dec96d8d1866f4c90023f4b827be485b0814ca0e9c8","e3f6d59e60cce48905ef7723587e29fb268d3cb7b51d5a9379c3036f17914b6a","fafbb5adab2c084089bfe1dda7dc1087ed4b5b4a32ee30b35c0c75d2871a90f3","fb64aa91a24b651946b7c9a97ce1c4283a92a3101df872a07d9f5e4de974751d","fbefce5025dbfc0918d351fab965d877907d48a5d4770f2cd2ceb7486fc77423"],"recordQualifiers":{},"scopeLabel":"OMIM:617063","sourceIds":["OMIM:617063"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0033046/OMIM:617564","label":"Meier-Gorlin syndrome 8","mondoId":"MONDO:0033046","onsetQualifier":null,"recordKeys":["04baa2a382680d58c844cc10e8a213ecc6d6c5909ca9920c9ef5b9f45853f52a","0ad645cbca684c9b90011f62a1cd38e80cc71eff8a7f3005a2b9b4ac6457b729","0da146fcdc92507a6899bd4868d0e4f0f91da5997e187add69587a35b701eb41","1f513e4fe72258789dae91a1f49e3253a259ca665360c041882bac5b0d27e5d7","347b284d0b9f05cb4665043065268aac4119e7123a6b17d5416b3d0ce1abb7a4","4720135eb5675fa2cd480e0210d0aae70ea656b363c85dc005895e2caadf4c78","6d63ba9460d15b0affbdec69a20846f0c3d784aeadb3a9371665187d2200f6dc","b1819e1ffce39ced7c744f8a03773349ca52fe77a090cc8e21b4765f3f684605","bc3741a2bce49f647e85260581044e848c1973a91aad5fe05efaec208f7e974f","fdec6c0e572106581be24a3602c997725bf2514cc3ea30d54d42a61861a09734"],"recordQualifiers":{},"scopeLabel":"OMIM:617564","sourceIds":["OMIM:617564"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0016817/ORPHA:2554","label":"Ear-patella-short stature syndrome","mondoId":"MONDO:0016817","onsetQualifier":null,"recordKeys":["0ae7001d8c1be73651d9356b0c092184eef5dc621f4889ef2360ba0f636ea089","1506f518f880a33e24155454a1e752d22a1eae6c46afe546da98a3d261a91c6e","19651f8a2f374d6378076e5a20d44360946aa969bf39d6293dbfecdfd8f07860","258b40ec9cf4eb1840da16a78f3850954264587b40a49e8640513a4ea3704360","2aea3a611b0cd8fec7d8d0bae44ce565589cf5aefe62adeb491c5ca60a54eedb","2cee1d8144e2d0cae5bf37bcdf6a46857c838161575dc5fcbc2070607f2466cc","3199309abbe4e0509d0c4cfe87ff5f232eaf99bc6116af290d1ca6a186eb3b36","39a57dae30f0fd0121cf511625ab27dbc45b75b13f5ca6e63b45454bb941d9c8","3c0b50cc5b7131f06093791870b12c036f62000f1f9b76668615fa35f952fc7a","41d5718ed3c21b4f88a08c94b0e81941686769a3f0af1a91d36d44b35b4be6d5","4b9a9a65ee1fb48af96d58b5968379e07761accfae245a148cfdd111bb785056","4ca76336d5766e422660ec8a2cd62caefd269201d64272dfa3185eac374420c1","4f20bbebd1211a4f62659a73234b8683e2ec4edc8b824188f1b461e7eb72fe0d","5e2e00b073fc755d899f6a0349f065ca8abed92b726a57c901e8935ccc31edb2","661b7f9601fc4ce3977b08aca9baa039bc10d3f291480ed0c5911b9d6e15b21e","7102413c73b3d4ac514abfa012227ca826a128abfd52ef5528cb5cdb817b856b","72536ea69433c9944d9e68b135b3e87b6a2a119b6699c87d36f00775c4773372","7590584249e0c233cc97827b5700646be141aac596616aa39afd449fefaebab7","770b1addad30b88eea22ffa456e989b7e2192450bb3d7edabd96b9587f55e403","7a482be4060d12569fc440f86649787575dffd9566ecf58152142ecba096a706","7d37d2736bb0c2f35684b8325cb751b15b2eeacbc0772edb33accadd01d0a7f5","7eea7d783c1dcb086cbed16c817069e7efff9453a2405f02458390cb7b6de7c7","833ad523243bb7421b487e4781847766b1579da64fe8418dfed542132ed91fe4","8992efcdd1c8656fdf80f117b0feb59bf45299f6ef58b9fc500f6d2e817f2234","8b96eafa53315b5ac971b81417e4b0756ee7686fd41c6da5013e19c4cef6a7fa","8d60ef4bd2b65fd992c17d429c53423b636d48d1de1956c0e2b014f98a5d2197","918dd706bcf022c83d744ed432e3e8f1b91ff317cc4b537a8afe266b85261115","a1f2412f4492824f7e43c5400cf39df7004f8b9bb8712b4172b5eab2db8200e9","a5c2bfe54b61aa5d4eb35ffc688e1c444068e9450a636d447a9a3858d86c82f2","ab090a123ebca0ca1d2b78431be0af375f7a3fa9b24040b03e3c1daa9aa65112","ac25ed0092d339de651ef0dbd82abf728dcfcae488a9fd6971e86dabd4a3c0d2","aca7f74617f460704310377683b5e1d678b33ba7e997364364b3ce5b0e1bc4b6","b5fee4769a6f22e6b7e2230c472405573f4032f23506a64b22415127ac2ea213","b74811a3cec7fe367ea298c48d0ce9d54bdf4b6026a52ffe397f7af27eda5c31","c03d4127a6488ef41d2e789ab56a1c0c05c162a7f1d645d51742cbf895a503e0","c0a5b4ca99e9d4234d0492e31ce283991b01560c67e52d227a25685b76ae6924","c0e4cbaccca260bff367c7b73676ebcb1cde6580c86046bfbc89168794290b1a","c10f2014b52ace660322fe24f0ba722fd9ac2ec2076730eeaa9df41e39f12d93","cfe999957e60b21ee39c48813e27a17863a66602a59610c724e13fbae6447391","d2a47bb125d07e974027ea3b104311bda9bec1e9fe4aa2078998fe91591c45e3","e337d801b0f909e3af8a260708b647709ff18050686c3c645884586236e9cb8e","e43f8911c38c34f8a59c2cf4f49e71e97461f4317ad2533912cfdfd452ca1109","e50405717dcaf586ffe910c2b9408252a178ff5a3d5d18e7b4ed8b45035954f3","e65cbcb6d0b11984f061a6e617f022e50ff20fccdd32644bd150de7ffb6daabe","ea8258c7caed589f31a1d7e1fd00855440007ca61f4e0591817c5065251b382c","edb6e17d2ce0daa786f002c2212cb2362e23bedb63b7e331ba724df4c9fd3401","f0964671bebc2603d3f0ed6d8bac2e569fcd51cf2b4134a00c2a7105e02eba95","fb881b19a02c0066a8386e3160b2fed05298244e5e34c3f74b67899e9d13105b","fdbdabcdecdc0242bea9d5c80884268713e6b21e53b609325bd54855a97ba3a0"],"recordQualifiers":{},"scopeLabel":"ORPHA:2554","sourceIds":["ORPHA:2554"],"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:0009143/OMIM:224690","MONDO:0013428/OMIM:613800","MONDO:0013430/OMIM:613803","MONDO:0013431/OMIM:613804"],"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":163,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":340,"sourceGroups":{"omim":115,"orphanet":49,"published":176}},"features":[{"hpoId":"HP:0004691","label":"2-3 toe syndactyly","primary":false},{"hpoId":"HP:0010709","label":"2-4 finger cutaneous syndactyly","primary":false},{"hpoId":"HP:0005930","label":"Abnormal epiphysis morphology","primary":false},{"hpoId":"HP:0002644","label":"Abnormal pelvic girdle bone morphology","primary":false},{"hpoId":"HP:0000377","label":"Abnormal pinna morphology","primary":false},{"hpoId":"HP:0001547","label":"Abnormal rib cage morphology","primary":false},{"hpoId":"HP:0000772","label":"Abnormal rib morphology","primary":false},{"hpoId":"HP:0000356","label":"Abnormality of the outer ear","primary":false},{"hpoId":"HP:0001620","label":"Abnormally high-pitched voice","primary":false},{"hpoId":"HP:0006591","label":"Absent glenoid fossa","primary":false},{"hpoId":"HP:0006628","label":"Absent sternal ossification","primary":false},{"hpoId":"HP:0002023","label":"Anal atresia","primary":false},{"hpoId":"HP:0002025","label":"Anal stenosis","primary":false},{"hpoId":"HP:0009892","label":"Anotia","primary":false},{"hpoId":"HP:0001545","label":"Anteriorly placed anus","primary":false},{"hpoId":"HP:0000463","label":"Anteverted nares","primary":false},{"hpoId":"HP:0006498","label":"Aplasia/Hypoplasia of the patella","primary":false},{"hpoId":"HP:0006660","label":"Aplastic clavicle","primary":false},{"hpoId":"HP:0000413","label":"Atresia of the external auditory canal","primary":false},{"hpoId":"HP:0001631","label":"Atrial septal defect","primary":false},{"hpoId":"HP:0000193","label":"Bifid uvula","primary":false},{"hpoId":"HP:0008689","label":"Bilateral cryptorchidism","primary":false},{"hpoId":"HP:0003561","label":"Birth length less than 3rd percentile","primary":false},{"hpoId":"HP:0000581","label":"Blepharophimosis","primary":false},{"hpoId":"HP:0002979","label":"Bowing of the legs","primary":false},{"hpoId":"HP:0100783","label":"Breast aplasia","primary":false},{"hpoId":"HP:0003187","label":"Breast hypoplasia","primary":false},{"hpoId":"HP:0001623","label":"Breech presentation","primary":false},{"hpoId":"HP:0002780","label":"Bronchomalacia","primary":false},{"hpoId":"HP:0012385","label":"Camptodactyly","primary":false},{"hpoId":"HP:0100490","label":"Camptodactyly of finger","primary":false},{"hpoId":"HP:0007099","label":"Chiari type I malformation","primary":false},{"hpoId":"HP:0000453","label":"Choanal atresia","primary":false},{"hpoId":"HP:0000175","label":"Cleft palate","primary":false},{"hpoId":"HP:0030084","label":"Clinodactyly","primary":false},{"hpoId":"HP:0004209","label":"Clinodactyly of the 5th finger","primary":false},{"hpoId":"HP:0008665","label":"Clitoral hypertrophy","primary":false},{"hpoId":"HP:0000060","label":"Clitoral hypoplasia","primary":false},{"hpoId":"HP:0001217","label":"Clubbing","primary":false},{"hpoId":"HP:0001674","label":"Complete atrioventricular canal defect","primary":false},{"hpoId":"HP:0000405","label":"Conductive hearing impairment","primary":false},{"hpoId":"HP:0034271","label":"Copper beaten skull","primary":false},{"hpoId":"HP:0002673","label":"Coxa valga","primary":false},{"hpoId":"HP:0002812","label":"Coxa vara","primary":false},{"hpoId":"HP:0001363","label":"Craniosynostosis","primary":false},{"hpoId":"HP:0000028","label":"Cryptorchidism","primary":false},{"hpoId":"HP:0010554","label":"Cutaneous finger syndactyly","primary":false},{"hpoId":"HP:0004325","label":"Decreased body weight","primary":false},{"hpoId":"HP:0000824","label":"Decreased response to growth hormone stimulation test","primary":false},{"hpoId":"HP:0012448","label":"Delayed myelination","primary":false},{"hpoId":"HP:0000823","label":"Delayed puberty","primary":false},{"hpoId":"HP:0002750","label":"Delayed skeletal maturation","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0005280","label":"Depressed nasal bridge","primary":false},{"hpoId":"HP:0000457","label":"Depressed nasal ridge","primary":false},{"hpoId":"HP:0003083","label":"Dislocated radial head","primary":false},{"hpoId":"HP:0000268","label":"Dolichocephaly","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0100867","label":"Duodenal stenosis","primary":false},{"hpoId":"HP:0002094","label":"Dyspnea","primary":false},{"hpoId":"HP:0003042","label":"Elbow dislocation","primary":false},{"hpoId":"HP:0002097","label":"Emphysema","primary":false},{"hpoId":"HP:0000621","label":"Entropion","primary":false},{"hpoId":"HP:0000039","label":"Epispadias","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:0000911","label":"Flat glenoid fossa","primary":false},{"hpoId":"HP:0001371","label":"Flexion contracture","primary":false},{"hpoId":"HP:0002007","label":"Frontal bossing","primary":false},{"hpoId":"HP:0002020","label":"Gastroesophageal reflux","primary":false},{"hpoId":"HP:0002816","label":"Genu recurvatum","primary":false},{"hpoId":"HP:0002857","label":"Genu valgum","primary":false},{"hpoId":"HP:0002970","label":"Genu varum","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0012722","label":"Heart block","primary":false},{"hpoId":"HP:0002937","label":"Hemivertebrae","primary":false},{"hpoId":"HP:0000348","label":"High forehead","primary":false},{"hpoId":"HP:0000218","label":"High palate","primary":false},{"hpoId":"HP:0002705","label":"High, narrow palate","primary":false},{"hpoId":"HP:0001385","label":"Hip dysplasia","primary":false},{"hpoId":"HP:0001795","label":"Hyperconvex nail","primary":false},{"hpoId":"HP:0008736","label":"Hypoplasia of penis","primary":false},{"hpoId":"HP:0003090","label":"Hypoplasia of the capital femoral epiphysis","primary":false},{"hpoId":"HP:0000327","label":"Hypoplasia of the maxilla","primary":false},{"hpoId":"HP:0000059","label":"Hypoplastic labia majora","primary":false},{"hpoId":"HP:0000064","label":"Hypoplastic labia minora","primary":false},{"hpoId":"HP:0000047","label":"Hypospadias","primary":false},{"hpoId":"HP:0000376","label":"Incomplete partition of the cochlea type II","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001511","label":"Intrauterine growth retardation","primary":false},{"hpoId":"HP:0006361","label":"Irregular femoral epiphysis","primary":false},{"hpoId":"HP:0009473","label":"Joint contracture of the hand","primary":false},{"hpoId":"HP:0001382","label":"Joint hypermobility","primary":false},{"hpoId":"HP:0000066","label":"Labial hypoplasia","primary":false},{"hpoId":"HP:0001601","label":"Laryngomalacia","primary":false},{"hpoId":"HP:0000895","label":"Lateral clavicle hook","primary":false},{"hpoId":"HP:0000527","label":"Long eyelashes","primary":false},{"hpoId":"HP:0000343","label":"Long philtrum","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0009939","label":"Mandibular aplasia","primary":false},{"hpoId":"HP:0030717","label":"Meconium peritonitis","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0000691","label":"Microdontia","primary":false},{"hpoId":"HP:0000347","label":"Micrognathia","primary":false},{"hpoId":"HP:0000054","label":"Micropenis","primary":false},{"hpoId":"HP:0000308","label":"Microretrognathia","primary":false},{"hpoId":"HP:0008551","label":"Microtia","primary":false},{"hpoId":"HP:0011267","label":"Microtia, third degree","primary":false},{"hpoId":"HP:0011800","label":"Midface retrusion","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:0000545","label":"Nearsightedness","primary":false},{"hpoId":"HP:0000774","label":"Narrow chest","primary":false},{"hpoId":"HP:0000160","label":"Narrow mouth","primary":false},{"hpoId":"HP:0011126","label":"Nephroptosis","primary":false},{"hpoId":"HP:0010886","label":"Osteochondritis dissecans","primary":false},{"hpoId":"HP:0006443","label":"Patellar aplasia","primary":false},{"hpoId":"HP:0003065","label":"Patellar hypoplasia","primary":false},{"hpoId":"HP:0000768","label":"Pectus carinatum","primary":false},{"hpoId":"HP:0000358","label":"Posteriorly rotated ears","primary":false},{"hpoId":"HP:0001177","label":"Preaxial hand polydactyly","primary":false},{"hpoId":"HP:0000253","label":"Progressive microcephaly","primary":false},{"hpoId":"HP:0005487","label":"Prominent metopic ridge","primary":false},{"hpoId":"HP:0000426","label":"Prominent nasal bridge","primary":false},{"hpoId":"HP:0000520","label":"Proptosis","primary":false},{"hpoId":"HP:0002089","label":"Pulmonary hypoplasia","primary":false},{"hpoId":"HP:0006532","label":"Recurrent pneumonia","primary":false},{"hpoId":"HP:0002205","label":"Recurrent respiratory infections","primary":false},{"hpoId":"HP:0002098","label":"Respiratory distress","primary":false},{"hpoId":"HP:0002878","label":"Respiratory failure","primary":false},{"hpoId":"HP:0000278","label":"Retrognathia","primary":false},{"hpoId":"HP:0004442","label":"Sagittal craniosynostosis","primary":false},{"hpoId":"HP:0001852","label":"Sandal gap","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0011706","label":"Second degree atrioventricular block","primary":false},{"hpoId":"HP:0000407","label":"Sensorineural hearing loss","primary":false},{"hpoId":"HP:0003510","label":"Severe short stature","primary":false},{"hpoId":"HP:0000049","label":"Shawl scrotum","primary":false},{"hpoId":"HP:0005819","label":"Short middle phalanx of finger","primary":false},{"hpoId":"HP:0003196","label":"Short nose","primary":false},{"hpoId":"HP:0004279","label":"Short palm","primary":false},{"hpoId":"HP:0012745","label":"Short palpebral fissure","primary":false},{"hpoId":"HP:0000773","label":"Short ribs","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0010306","label":"Short thorax","primary":false},{"hpoId":"HP:0009879","label":"Simplified gyral pattern","primary":false},{"hpoId":"HP:0003100","label":"Slender long bone","primary":false},{"hpoId":"HP:0000237","label":"Small anterior fontanelle","primary":false},{"hpoId":"HP:0000385","label":"Small earlobe","primary":false},{"hpoId":"HP:0001518","label":"Small for gestational age","primary":false},{"hpoId":"HP:0200055","label":"Small hand","primary":false},{"hpoId":"HP:0000046","label":"Small scrotum","primary":false},{"hpoId":"HP:0000319","label":"Smooth philtrum","primary":false},{"hpoId":"HP:0002215","label":"Sparse axillary hair","primary":false},{"hpoId":"HP:0002225","label":"Sparse pubic hair","primary":false},{"hpoId":"HP:0001328","label":"Specific learning disability","primary":false},{"hpoId":"HP:0000402","label":"Stenosis of the external auditory canal","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0000176","label":"Submucous cleft hard palate","primary":false},{"hpoId":"HP:0001762","label":"Talipes equinovarus","primary":false},{"hpoId":"HP:0000179","label":"Thick lower lip vermilion","primary":false},{"hpoId":"HP:0012471","label":"Thick vermilion border","primary":false},{"hpoId":"HP:0045074","label":"Thin eyebrow","primary":false},{"hpoId":"HP:0000883","label":"Thin ribs","primary":false},{"hpoId":"HP:0000963","label":"Thin skin","primary":false},{"hpoId":"HP:0002786","label":"Tracheobronchomalacia","primary":false},{"hpoId":"HP:0002779","label":"Tracheomalacia","primary":false},{"hpoId":"HP:0000325","label":"Triangular face","primary":false},{"hpoId":"HP:0001537","label":"Umbilical hernia","primary":false},{"hpoId":"HP:0000430","label":"Underdeveloped nasal alae","primary":false},{"hpoId":"HP:0012583","label":"Unilateral renal hypoplasia","primary":false},{"hpoId":"HP:0012227","label":"Urethral stricture","primary":false},{"hpoId":"HP:0001629","label":"Ventricular septal defect","primary":false},{"hpoId":"HP:0003422","label":"Vertebral segmentation defect","primary":false},{"hpoId":"HP:0000076","label":"Vesicoureteral reflux","primary":false},{"hpoId":"HP:0000260","label":"Wide anterior fontanel","primary":false}],"ledeHtml":"Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.","mondoId":"MONDO:0016817","records":[{"frequencyKind":"reported","key":"00e9dd219fd9fa1474b58ea139f609fcd89767a54a8ec86841d0f871ea95ae54","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000059","is_excluded":false,"label":"Hypoplastic labia majora","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"00f702af925458c4f0bb6d0e9ea0263beaae7cd0eadd431dfc87358c08ef1a44","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000059","is_excluded":false,"label":"Hypoplastic labia majora","onset_id":null,"reference":"OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"014d3ab1904e2cf3ccefb5375157b6a7577838385ec98e595adab57a40de5b07","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0010709","is_excluded":false,"label":"2-4 finger cutaneous syndactyly","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"01aabfbec87b33cdf5e75307f6f9608f5d8cc5ebe6618054c0c98e94dffc099e","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"01d248779b1e4231d19edfb6e754f1257762f3ccb9668509a73d6f06bc6e5045","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002779","is_excluded":false,"label":"Tracheomalacia","onset_id":null,"reference":"OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"01e37009f914064ef2673f42796565c24769bf8400c2591116f5e0964ab3d35a","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008665","is_excluded":false,"label":"Clitoral hypertrophy","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"029b0d6878ee5bd38a1806b8e59e1d4ce2089207cb49810d42de9a225507b12e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001256","is_excluded":false,"label":"Mild intellectual disability","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"02ce373522ec68287c16c10afd1dbb78f3545b1f0dd1ca82a39e635b0cf77348","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"04268bb53298c1aa75609bb5cd61514f05b2f7eee37ffeb19cc3239bb7874c56","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0006628","is_excluded":false,"label":"Absent sternal ossification","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"04baa2a382680d58c844cc10e8a213ecc6d6c5909ca9920c9ef5b9f45853f52a","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:617564","disease_name":"Meier-Gorlin syndrome 8","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0011126","is_excluded":false,"label":"Nephroptosis","onset_id":null,"reference":"PMID:28198391","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"06137f2e021150bbce9a43d5723b0170d0c7764d82afdfb43d613d529a6c3c79","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0030084","is_excluded":false,"label":"Clinodactyly","onset_id":null,"reference":"OMIM:613805","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"06a40bc5ad662b9842fbc2ee622a484eecf45b636d2dac012d87ad2dc2be4232","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000046","is_excluded":false,"label":"Small scrotum","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"099c9a7e65b16936d0b8b6f2ab0c9cbd50f0f2bea368d30de51701da38fdeb02","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000457","is_excluded":false,"label":"Depressed nasal ridge","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"09fdc41b6e26d57271732ca65e661d68798b43df2a667ac72a216c6603b507a9","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001518","is_excluded":false,"label":"Small for gestational age","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0ad645cbca684c9b90011f62a1cd38e80cc71eff8a7f3005a2b9b4ac6457b729","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:617564","disease_name":"Meier-Gorlin syndrome 8","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"PMID:28198391","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0ae7001d8c1be73651d9356b0c092184eef5dc621f4889ef2360ba0f636ea089","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"0da146fcdc92507a6899bd4868d0e4f0f91da5997e187add69587a35b701eb41","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:617564","disease_name":"Meier-Gorlin syndrome 8","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"PMID:28198391","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0e7e0e46df17fe62a2d44364bbbf42a3c8ae79920284dab42049ae06d0ba28c0","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0ec8bd679690d555fcdec7c1cd9b88e442657947b2f1678b5749c4225f17393e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0012385","is_excluded":false,"label":"Camptodactyly","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"118b374f6ddd072b69a3eb767a535bb15908db6c22eef335a944b28a2d0d03d5","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0000076","is_excluded":false,"label":"Vesicoureteral reflux","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1506f518f880a33e24155454a1e752d22a1eae6c46afe546da98a3d261a91c6e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003042","is_excluded":false,"label":"Elbow dislocation","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1518518b4f3622f4c9314bf08f2508b3428df9287def6033ac6de1ca20a999c3","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"15389f5b30884f48cc855f8c6b065ce1caf0f8f064519e1285124a60926bdd7d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0002750","is_excluded":false,"label":"Delayed skeletal maturation","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1633c44d84a1278b71b44cb5b833f5777144b2aa61caaa6853735e0c754a6683","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/7","hpo_id":"HP:0000054","is_excluded":false,"label":"Micropenis","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"185574993b0cae92f01cd7b605887cf3fd1370bbdf167e3fda0965b91a032f34","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"19651f8a2f374d6378076e5a20d44360946aa969bf39d6293dbfecdfd8f07860","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"19c2cd18e26913409fc9c35b127bdff8e6e4503d9220fa3502eefe57fdf0f974","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"19dc495924259c09d952ae20ee05266d4a1ab3141bc333cf2a4ad8adda4df88b","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0000545","is_excluded":false,"label":"Myopia","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1a4f961524b66951c82c7db08fc7fad75d6a7b6d776a095ab69b9dc9bd319ac0","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002094","is_excluded":false,"label":"Dyspnea","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1a8dc6afe4eb433f36738827714a79c7c57bc5b5b51163e826ca2827850b7aa5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0006443","is_excluded":false,"label":"Patellar aplasia","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1b816842059cf1109fb9b2ea757784d6ca55dc591953002101f47c9178a8f5e1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"7/7","hpo_id":"HP:0006443","is_excluded":false,"label":"Patellar aplasia","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1bb8acd5e6323176ba9853bb91b67e7c4e3005ace70867d5a707b63712b71498","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000064","is_excluded":false,"label":"Hypoplastic labia minora","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1c159af5a5a53d549ab96ef201c7c29923302564612a2fe5c11ce37c894cf51f","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0002023","is_excluded":false,"label":"Anal atresia","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1c18eec0e0d9164dda18ba4ce5aa5b7a53f950abfb3ba81d6234a16229ad51cd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1c422f6448f513f3db7701fc9f3076ba142c413e35deaebe17c2d261a6f87848","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0006443","is_excluded":false,"label":"Patellar aplasia","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1c7e237a5e96a55ac8614b070e2214f93a0b924ef7f4a6ce5fb9b30d4535bab6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0001217","is_excluded":false,"label":"Clubbing","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1c8851e9bff6643c20ffe0a9993a642a805102293a08c12f5f0fe32b04b11192","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1dcec349a6dda26bb7fa89e03232799bd4a12283c9b0063277bbfacddbd4efa9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000343","is_excluded":false,"label":"Long philtrum","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1df61fab76a280748498a5e9056de523b735829dc38bd2823ba1a0052269312d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0002816","is_excluded":false,"label":"Genu recurvatum","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1e283cc56f5e66962b154de58a152b6c2bd2f7b4c11e231911f53824c1f874f1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002812","is_excluded":false,"label":"Coxa vara","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1eb031ce5bc83199ce5fdaf8f191c11a63e6703579f7374817660091cada4bae","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001547","is_excluded":false,"label":"Abnormal rib cage morphology","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1f513e4fe72258789dae91a1f49e3253a259ca665360c041882bac5b0d27e5d7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:617564","disease_name":"Meier-Gorlin syndrome 8","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0012471","is_excluded":false,"label":"Thick vermilion border","onset_id":null,"reference":"PMID:28198391","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1f855d22eed3a99cc0f241758235d9dceeb4f10e33ad1ac3d1ada94dca51f876","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"20f8b2cc130446fef21a8dfb97b877daf6264eb95c511fdf7f708349a7a9efe0","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000402","is_excluded":false,"label":"Stenosis of the external auditory canal","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"236087c5b4fe11403aa3d0aa3db6dc10590da2d4da21db26ad50b623056c4ee5","raw":{"aspect":"P","body_system":"breast","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003187","is_excluded":false,"label":"Breast hypoplasia","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"23783a8f86b549265951ed9e97092811afca5626abb69f4385a05089f7af73d0","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000824","is_excluded":false,"label":"Decreased response to growth hormone stimulation test","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"23825289e1a19e449985e6d86989dd781692ff7ce437d00c1acfb37cfa00e703","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000348","is_excluded":false,"label":"High forehead","onset_id":null,"reference":"OMIM:616835","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"238253cac9990f4c7643bab1fef3b39f19109268359e7703d6fb9349d56ac939","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0002097","is_excluded":false,"label":"Emphysema","onset_id":"HP:0003577","reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"244342cb41181dcd33c7f3e3bfc6abecd916b04530ebbe2369cb782b0897c941","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0000160","is_excluded":false,"label":"Narrow mouth","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"249d7fbef1ecb40caffb94e2cc1e2744321623534b60c973f53aa087a4c349d1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"0/7","hpo_id":"HP:0001249","is_excluded":true,"label":"Intellectual disability","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"252e383adec716f987bf6618062c51c039ee41e3837b322b2367f7cf732fdb91","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0030717","is_excluded":false,"label":"Meconium peritonitis","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"258b40ec9cf4eb1840da16a78f3850954264587b40a49e8640513a4ea3704360","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"259d90abd155fec33d7858d9f0739a98a7c5eb6cc5670ee09245383cdc59229d","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002098","is_excluded":false,"label":"Respiratory distress","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"26c31f4385e166a6d86c20473022baaf1e4327c7c756a2e072a8d69e7f235c2d","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"26e98beaf210fa5d6282a57c5e71743e0ae75c983e9189f08d11d797364c7106","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001537","is_excluded":false,"label":"Umbilical hernia","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"275fab2849deafcbdbd40dbc4651254f4eb5ff46ffd0a3ed327a2ccdb93c1e4a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"28444c690afe97ddb8bb525c3249b3a2c45ac8c7ff46ea5bd8bd9896c49b594e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003196","is_excluded":false,"label":"Short nose","onset_id":null,"reference":"OMIM:616835","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"29f4a081abdf1999142df5051065754713efee325db8912ecdcb6145ba50b50a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:616835","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"2aea3a611b0cd8fec7d8d0bae44ce565589cf5aefe62adeb491c5ca60a54eedb","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000278","is_excluded":false,"label":"Retrognathia","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2afe0ee35d16cc5ea344a8a11900b075a30feab426c70481e8a70bf735d2c64c","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2cee1d8144e2d0cae5bf37bcdf6a46857c838161575dc5fcbc2070607f2466cc","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003510","is_excluded":false,"label":"Severe short stature","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2db513ada100122be6eb9f1af299d804357110021fff7e58b2c0c467a2bdf3b3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0004691","is_excluded":false,"label":"2-3 toe syndactyly","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2f5731749ad1fbdfaad695f8e1c0bc2580986663aea2579cf3d24aea0ac8eb16","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001518","is_excluded":false,"label":"Small for gestational age","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2f8e83a2359af1ca77a86fc24ce15d0f86965cf4712206c68c9a7d1dd6bcd32c","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"30294cdb6af9656838831a375cda77dbaf68e69c0f8db4f10a711af164f08b35","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3199309abbe4e0509d0c4cfe87ff5f232eaf99bc6116af290d1ca6a186eb3b36","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100490","is_excluded":false,"label":"Camptodactyly of finger","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"31d16b7f1148a614d0ad858c3dd139634e1105bd93d63a4e26addb666b60a991","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000774","is_excluded":false,"label":"Narrow chest","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"3219307c3930d8468c762466d88840e37d307bc23a2baeffb9d142b1abe255aa","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0003100","is_excluded":false,"label":"Slender long bone","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"32b1046636c8be461adddb8fcd197ce41f5564602abdac53aae931a52725a103","raw":{"aspect":"P","body_system":"breast","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003187","is_excluded":false,"label":"Breast hypoplasia","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"32fb2529f20ac0e83b94499d0d61d4013f82ce30fd54fc633652aa6a4585e316","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003561","is_excluded":false,"label":"Birth length less than 3rd percentile","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"32ff551338624790c53449bd915a1f080e5972e7119738d97ddc3ececae3d868","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"3339d72b5c5beaa9c411b399ee8701b2e817ec84486810a7f86859150720f405","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002970","is_excluded":false,"label":"Genu varum","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"33dbf889802433681e88f0d68ad0b5d5fda42949e545f7a9dce6777f80006470","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3468590b00031b024ef7624eb40c1481857a97c5e9d0be4f654f4afec08ebf7d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0003065","is_excluded":false,"label":"Patellar hypoplasia","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"347b284d0b9f05cb4665043065268aac4119e7123a6b17d5416b3d0ce1abb7a4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:617564","disease_name":"Meier-Gorlin syndrome 8","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000160","is_excluded":false,"label":"Narrow mouth","onset_id":null,"reference":"PMID:28198391","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"353772380995a02c926d6926ae49318d75c072fa102b15208f00c76ffdba991c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0011342","is_excluded":false,"label":"Mild global developmental delay","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"35fe12fee226ce27b9a50905945e62f5127c060fb13770ed8f1416fa83306a37","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"3/12","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"365ae7425f10bedca6a22d504c127afd7a6e3835e953ff885875be8c7a231221","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"OMIM:613804","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"36fe87e08c002b54db14fdb3f643196d5865b91ec61639b7da78d704d0abfdea","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0003561","is_excluded":false,"label":"Birth length less than 3rd percentile","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"3741f091a83419ae52fdbc0591b86a855155e7091c1846661122126d2d701be3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000773","is_excluded":false,"label":"Short ribs","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"37b37ca4e18015fe1fa50932d87a0902d99c0d832604cbe5d4a3abf88c7093b3","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002020","is_excluded":false,"label":"Gastroesophageal reflux","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"391f2bc3b40fefb3104af3571ddae24ad2bb7fcf2a552caa814c3b51726bad93","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002970","is_excluded":false,"label":"Genu varum","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"392f9d4de4de552752065e55fcfaf6b0822031298fe78f21732bebe60db1c367","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0008665","is_excluded":false,"label":"Clitoral hypertrophy","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"39591a792ede95c4e6bc425c75de6a6e0e763c2534fcc4762c5b0f2922a37e6c","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"39a57dae30f0fd0121cf511625ab27dbc45b75b13f5ca6e63b45454bb941d9c8","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000413","is_excluded":false,"label":"Atresia of the external auditory canal","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"39d7cb21644d900cc694091a21bd1d418ed2e128b8c033da8e1f7686bfc44842","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3a25cc9ded3ba715f3b02b06bb68e8177473ed4efe8ad2d39797a2acfd664ada","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3ac372cffb78dbd66b06f07ff10e433e086bda6bd5818a4aa095cdd35a1b074c","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3b486606f7277a7acf23634eaa35ad1a2de142634627107f52c438a12093a093","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3c0b50cc5b7131f06093791870b12c036f62000f1f9b76668615fa35f952fc7a","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002878","is_excluded":false,"label":"Respiratory failure","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3d35430084b8f4abec13d05e98da2d623631cf74fd65c16c84390992a4761c92","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3dbc74e2d34b16510f520e09b618ebeaee3b3a59a39f58a958fdf2caa4e84740","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"3/15","hpo_id":"HP:0001629","is_excluded":false,"label":"Ventricular septal defect","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"3dc31f512f6470c49c0fef100aa805b5cd0396fd1a0c6bd98c7938b2437cb735","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"3e9e4a95b64f9500f8048ff4d367901d7dba86016f3c7d34ab87dd729584aa08","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0008665","is_excluded":false,"label":"Clitoral hypertrophy","onset_id":null,"reference":"OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"410a5a9d6764910393cf70a8a62fc8351490bd636e78754769de57c36b259799","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0003100","is_excluded":false,"label":"Slender long bone","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4161eaf642c0241a43adfb1f15abe6bddec46cf613fe3977aa9591add671faad","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000768","is_excluded":false,"label":"Pectus carinatum","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"41a86f923a361b180c70994fe802baab72f855fc73d53239b08f95cca95a0ec3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002644","is_excluded":false,"label":"Abnormal pelvic girdle bone morphology","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"41d5718ed3c21b4f88a08c94b0e81941686769a3f0af1a91d36d44b35b4be6d5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"43f4fc60112624a74329db84aff0b4ec75fc36dcef9dec0475e0bfe196b6b1f8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003100","is_excluded":false,"label":"Slender long bone","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"44dbb1604d6d31d41bb1b85e8b3e4365c9d5088fd43c8ba928fda949d5c0abde","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000430","is_excluded":false,"label":"Underdeveloped nasal alae","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4720135eb5675fa2cd480e0210d0aae70ea656b363c85dc005895e2caadf4c78","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:617564","disease_name":"Meier-Gorlin syndrome 8","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"PMID:28198391","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"47b9eb3f3298776f569301078a322f72e73db20a751d2a18b05029f318ad5e08","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"48a05ff3358519461599318a755ea4ca51dad4e9ea0f66a84623813c0a79640b","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000376","is_excluded":false,"label":"Incomplete partition of the cochlea type II","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"48df6b517ab61d8ff16c0b60b3a90bebe9e2fc999d9f9b8bbbd5ebfdc1e3df0a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000581","is_excluded":false,"label":"Blepharophimosis","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"49aa30e63338f41ceab422fb56fde722291252de9993fc9dad520eebbfb4ffbb","raw":{"aspect":"P","body_system":"breast","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0003187","is_excluded":false,"label":"Breast hypoplasia","onset_id":null,"reference":"OMIM:613804","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"49f2ae1d1b96280a82334caa2f34c58dbcbb098d8f051f8b6cdd074e1b0f6849","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000385","is_excluded":false,"label":"Small earlobe","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4a0bb027462359e37f308d4606645bac02473c626362c13c8d305644c82c7b1d","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"15/15","hpo_id":"HP:0045074","is_excluded":false,"label":"Thin eyebrow","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"4b9a9a65ee1fb48af96d58b5968379e07761accfae245a148cfdd111bb785056","raw":{"aspect":"P","body_system":"breast","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100783","is_excluded":false,"label":"Breast aplasia","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4ca76336d5766e422660ec8a2cd62caefd269201d64272dfa3185eac374420c1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002750","is_excluded":false,"label":"Delayed skeletal maturation","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4db7395953a5ca6d8e1bde76e365c4d146a80cd5e96eace97c441ee7c01d79ed","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"4/7","hpo_id":"HP:0002097","is_excluded":false,"label":"Emphysema","onset_id":"HP:0003577","reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"4f20bbebd1211a4f62659a73234b8683e2ec4edc8b824188f1b461e7eb72fe0d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000160","is_excluded":false,"label":"Narrow mouth","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4fec0737ac78f9381faba782eda11a25f0300ae1f02369c00b7a18ca783e521e","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"519260e472b20cfbd37bc13ae710d18d8e0aa673c1a17a664b2dc685068d9917","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0001177","is_excluded":false,"label":"Preaxial hand polydactyly","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"54b5f7c7cc9bbde57822a005463179254c68a93d48915d78721a8a8c837661d5","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0001601","is_excluded":false,"label":"Laryngomalacia","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"56b0f3752b4cd7b7d0f8e294dad8d3b35889e9949a89e8471829ef42ce013a3f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0007099","is_excluded":false,"label":"Chiari type I malformation","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"583f2cb81ad24f6737d7ac4fbc7d9e952e1583b2ade11c44cc1fee44a48de8dc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"PCS","frequency_raw":"13/13","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"PMID:21358632;OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"584e377a44810c88b0e92eb3980fde19ff5d83caa9b06e06204f230573689752","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001795","is_excluded":false,"label":"Hyperconvex nail","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"58ad4fbd8afca86f779dc7c83ff8af42e286cd31072f286a690f1d1edcc71dfb","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"596405eb5ffbfbc787101d8214d7024e9a771d2956f22eaf13958411286e5bc9","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000054","is_excluded":false,"label":"Micropenis","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5a5c89a31efc850e6fb81442a46f547948a197316c2a7416aa06c700167398e2","raw":{"aspect":"P","body_system":"breast","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003187","is_excluded":false,"label":"Breast hypoplasia","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"5bf57f5b89680978ea46041216ade76cf3712ca07d6cfb3099138317c026eb6a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000319","is_excluded":false,"label":"Smooth philtrum","onset_id":null,"reference":"OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5db0d5cf62e0d799d53cb639605615f84ff4860369121392b23b97a46b3e62bb","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000160","is_excluded":false,"label":"Narrow mouth","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5e2e00b073fc755d899f6a0349f065ca8abed92b726a57c901e8935ccc31edb2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"5e63a5d61add930e994a09a2981599b9e0d370f09f6904b4176f23dfbf8017c1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0006443","is_excluded":false,"label":"Patellar aplasia","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"5f24d9aefbef7c629e189840b139532a6a3900d1304647af7d8efabea3d232d9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"625e382d9f5eb33b0895550eb36ce4fa4ddb7230b7480f392bfcaf915b553a7d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"62fdf3db0865bc2997e1e30d1d2e9452986c86d5e0129c8bec7f57325d82e1fd","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"636d4efeb2507943009d48b3c69d4b168629034f4040a2f553d8ba5bedfea73a","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0002020","is_excluded":false,"label":"Gastroesophageal reflux","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"638d912d0769b1b05b6211c4584d57f58d53a5a09c96163b8ce87fadbe885c55","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002020","is_excluded":false,"label":"Gastroesophageal reflux","onset_id":null,"reference":"OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"63c4f7908847f6c9348e95536de5159f25e619fe08bdd7a9b63adaa754f1f83a","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0000520","is_excluded":false,"label":"Proptosis","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"63ddd57f9b0e8d5dca3617a0369d25abda442803b19dcfbe846231ac1e149a2b","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"64f39bd302cb869a1362575593986f7097b54bc1eb1e2b8c7b45da3a0af5c709","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0005819","is_excluded":false,"label":"Short middle phalanx of finger","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"653d21c58e5fa9da14cfab6016200003e137071671e252755fc0f60b055ed6c2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003090","is_excluded":false,"label":"Hypoplasia of the capital femoral epiphysis","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"657b7ae0b9299947f12f9042a1704e5a627f9303551f059ffcfc32188460dc88","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0010306","is_excluded":false,"label":"Short thorax","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"65fc7a17432fa42b6c1e4a0253e195c3653d029bd0df7c6f311309d92fe80197","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0012448","is_excluded":false,"label":"Delayed myelination","onset_id":null,"reference":"OMIM:616835","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"661b7f9601fc4ce3977b08aca9baa039bc10d3f291480ed0c5911b9d6e15b21e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012471","is_excluded":false,"label":"Thick vermilion border","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"662f0e05a570201d94b90e0711d98f0915205a72b90da800f840d2d714bf7bd6","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000358","is_excluded":false,"label":"Posteriorly rotated ears","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"67152f7d5eb7fd91032957d990228b7dbdb10d2a89d51efd4275a538be31489e","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"10/13","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"677d79fd68c74ee4a5fdc5ba313b809a5467e438b1320c308c9d158afa20bbfc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0012471","is_excluded":false,"label":"Thick vermilion border","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"67baecf57c90aca2f64d9b0452d740e183fbb91e32ca8f6dc3e60a035026e24d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0200055","is_excluded":false,"label":"Small hand","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"67c2a566deeb566be7681869d2385c7dc547deb82b0c9645704f4b069b444c50","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0012471","is_excluded":false,"label":"Thick vermilion border","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"69d11166f3625eb962df8b8c3746c693cc57b9ffc528e69b4126ac7bf5ad255f","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000054","is_excluded":false,"label":"Micropenis","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"69e91ef0a0e69f3294f74e34da756fa5f9e094e8161b4cdd79ab4fff79b23815","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0002025","is_excluded":false,"label":"Anal stenosis","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6a544115e4caa64f9c49b1f392b49ec8762d1f907578d7b02451dde4b093b071","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002750","is_excluded":false,"label":"Delayed skeletal maturation","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6a7e1e9e11d079cdc4f99d363ae46b959e8edb231018ec3e16473e294bbbc275","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0002816","is_excluded":false,"label":"Genu recurvatum","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6a9daba8cf42a6c88f2949e1b0c448c9197e771a3b50305d0a96cf8af732e2e7","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6b29e08c7fb6af8cf4fec87710a1e3e6c8166f4052a9fd78a2e995f7424c4a9d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003042","is_excluded":false,"label":"Elbow dislocation","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6b2f3fff42bbdbc5acb50c35ff7e88377084095c337d67338de9f749616ad569","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/7","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6b7a2e26e08ebfbf272f1b6180d84a17c9a619d4a2c92d1dd354b0e06131422f","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6d63ba9460d15b0affbdec69a20846f0c3d784aeadb3a9371665187d2200f6dc","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:617564","disease_name":"Meier-Gorlin syndrome 8","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0012583","is_excluded":false,"label":"Unilateral renal hypoplasia","onset_id":null,"reference":"PMID:28198391","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"6e332cfb33cc6e30fabf75f71871e5c6397e7ac4af93538ad043c4aa26f2a483","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002937","is_excluded":false,"label":"Hemivertebrae","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"6f4fe4ccad2058a71ea5c45c4503a588116f4969ba70710ab9b1b34e82e0ae69","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"7/7","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6fdbc592d1b21c59b5e4347e7f6fa05a7dfb8b314ac8c9fa8d050770e83a4761","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002750","is_excluded":false,"label":"Delayed skeletal maturation","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6ff244e1f2945799f8dab2434d9aa96aac4e655777e29fb25cb511c8c299aace","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0006443","is_excluded":false,"label":"Patellar aplasia","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"70c85eeae20d8022cc938e5012a5bb9f21fe2ac77d29e43d0db81165b546024c","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000064","is_excluded":false,"label":"Hypoplastic labia minora","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7102413c73b3d4ac514abfa012227ca826a128abfd52ef5528cb5cdb817b856b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0006660","is_excluded":false,"label":"Aplastic clavicle","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"72536ea69433c9944d9e68b135b3e87b6a2a119b6699c87d36f00775c4773372","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000039","is_excluded":false,"label":"Epispadias","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"735dea698549029649369efb964a5c010240d1a41d82c539c13b5ab42ab99192","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0003510","is_excluded":false,"label":"Severe short stature","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"740c8dba89c14048a15620bfce60cedcdef2261df33348342ae2223c59741b0b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001762","is_excluded":false,"label":"Talipes equinovarus","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7448dcd44b38179f72eea389549aba7644dc2fc94f99fd6523228324c9a21a07","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009473","is_excluded":false,"label":"Joint contracture of the hand","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7451c3be2dbd5a11e86f4f18c3a791b1e9c26f3f25ddd7fb2a9f6ee60f8e9928","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003561","is_excluded":false,"label":"Birth length less than 3rd percentile","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"74765000e3df2fa6099448bcb9078e8b40a7b5d125d0c94e45907358068af4ee","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000066","is_excluded":false,"label":"Labial hypoplasia","onset_id":null,"reference":"OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7590584249e0c233cc97827b5700646be141aac596616aa39afd449fefaebab7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003100","is_excluded":false,"label":"Slender long bone","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"75c600b988344f523c2100693c892ef183197c7c89e6784b2b78b02bf3a08d43","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005487","is_excluded":false,"label":"Prominent metopic ridge","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"760f36eb62d58a4d08061ac16a0aebb07760ed10c1bf73547ddfbc916493203f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"2/15","hpo_id":"HP:0004442","is_excluded":false,"label":"Sagittal craniosynostosis","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"76c9788f867c0641f795c554413e507942d4a23c42043a934fd94fee17383ce1","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000308","is_excluded":false,"label":"Microretrognathia","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"76d76a7d4a04649db3de38868d56abed82b0fd01276988c55efaeb8b595a7100","raw":{"aspect":"P","body_system":"breast","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0100783","is_excluded":false,"label":"Breast aplasia","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7701f142b0ca9f926ffa98d78f69a2d3ad5428655d7521d8ae81c426673b1051","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"13/15","hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"770b1addad30b88eea22ffa456e989b7e2192450bb3d7edabd96b9587f55e403","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002094","is_excluded":false,"label":"Dyspnea","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"77658575696967cafa709b8a5e16c2304d3ceecd2109a8e6466e188cec9b55ef","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000049","is_excluded":false,"label":"Shawl scrotum","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"7791c2e7b1d0deff4328cc1d953b5e949275f7681829cac079f75266f42b549c","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":"HP:0003593","reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"77ca0177042d95e722c1bbf04abc8d735e142e7bb250b011b50411f0d5ab11ae","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"2/15","hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7963fc3d880b9a49cfb8743c2915897c35f29887905dbedcdd0635f8a2dfc844","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"79b11ae1941a9354cee3663e40894f0748c37e14a91a36ea0c01fb422fad8366","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000047","is_excluded":false,"label":"Hypospadias","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"79f75433b0989d498aa9af2c3c269c11cd115666bd24ef06ff30bb9d11fa7d18","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000160","is_excluded":false,"label":"Narrow mouth","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7a482be4060d12569fc440f86649787575dffd9566ecf58152142ecba096a706","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000193","is_excluded":false,"label":"Bifid uvula","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7a89e160478f756a31ee922e31ee52147db541e9fc7cdc9b6bbb8bbb95921a0a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003100","is_excluded":false,"label":"Slender long bone","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7c0ded39b51b833de60cbd6f844112ec32a6f60fd4991c24887d5c36517cfb4e","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0002097","is_excluded":false,"label":"Emphysema","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7cbd30ac3935310341b40ba6bfb59cc7d20c7f76578a350348c0f244e4a3b8c2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"14/15","hpo_id":"HP:0001363","is_excluded":false,"label":"Craniosynostosis","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7d37d2736bb0c2f35684b8325cb751b15b2eeacbc0772edb33accadd01d0a7f5","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7d97d85b899ba3438189d98afb8e4dcbff8e04fae3fc6a6126ef8b8329a4f724","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000054","is_excluded":false,"label":"Micropenis","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7e61e0e8fac38b637d962a32ae13428ae1f62613729469f17da18730338ce861","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002020","is_excluded":false,"label":"Gastroesophageal reflux","onset_id":"HP:0003593","reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7ee48d9749e46a7b90b482dc6abf2bf90e8878060c4f69a9857a0c895835e3a9","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"3/5","hpo_id":"HP:0003561","is_excluded":false,"label":"Birth length less than 3rd percentile","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7eea7d783c1dcb086cbed16c817069e7efff9453a2405f02458390cb7b6de7c7","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8048c150870ab244d9d3d45b8c35474f293a3caec18f48668f3c3c0234c9615b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"4/6","hpo_id":"HP:0003100","is_excluded":false,"label":"Slender long bone","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"816846fe107b705daeb91652847f6a90793383c42f6712ae8b752167af2132b5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002750","is_excluded":false,"label":"Delayed skeletal maturation","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"81c7682c1afccb4fff1bf03400d5944be8c66ea68b5cd2af974ba64c3d4c5446","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"OMIM:616835","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"81c8889d5aca498c170e9c54a08242edb5c39d459327df9eeb30df66afcfebce","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"OMIM:616835","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"833ad523243bb7421b487e4781847766b1579da64fe8418dfed542132ed91fe4","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0009892","is_excluded":false,"label":"Anotia","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"848b09538c3b02b7f1b97e7fb2285607b7539d3aaeee0d2034dc2bc3dc98cd0e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0012385","is_excluded":false,"label":"Camptodactyly","onset_id":null,"reference":"OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"882c36afa9f6e188fb2514b265a3335150c40b06125d54b58291a007d0072538","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000405","is_excluded":false,"label":"Conductive hearing impairment","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"88ebc82073483970b879019cef9160af176ff9639a409eeddd397b331c3e55e9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002857","is_excluded":false,"label":"Genu valgum","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8992efcdd1c8656fdf80f117b0feb59bf45299f6ef58b9fc500f6d2e817f2234","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000060","is_excluded":false,"label":"Clitoral hypoplasia","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8a906000b939ce07f761ac7c627600c0f7fae5b9f6cd879f647906ee4d02bf62","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0012722","is_excluded":false,"label":"Heart block","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8ad1aee8ef964d589325477a04ab0b9e867f3b9a71c2ce1f706cd4b1102004fd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009879","is_excluded":false,"label":"Simplified gyral pattern","onset_id":null,"reference":"OMIM:616835","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8afdb157925697412935c6b527828dd3623295026b9f722c55fd67bba3058e14","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001620","is_excluded":false,"label":"Abnormally high-pitched voice","onset_id":null,"reference":"OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8b96eafa53315b5ac971b81417e4b0756ee7686fd41c6da5013e19c4cef6a7fa","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002098","is_excluded":false,"label":"Respiratory distress","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8d60ef4bd2b65fd992c17d429c53423b636d48d1de1956c0e2b014f98a5d2197","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8ed9fb9c616683650b48261cb02a853f29ff3d9a2f0076433c2c61181f62ce14","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"16/17","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"PMID:21358632;OMIM:613804","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8f3b07e8915375e63492b94edba0b030787b72cabd85d99737af3a0b60a6ab07","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8fcbe12e958281705e6795e37a1fd02008683497db6bbde47ce7ca21c1659d86","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000426","is_excluded":false,"label":"Prominent nasal bridge","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"9165efaed94ad216083b5643b8a6e4e2fc759a2df48dd08e693abde4d1ce7237","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002020","is_excluded":false,"label":"Gastroesophageal reflux","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"91803c5bfec849ce6455ac9ea7995b18b02c79c471555536dfc0a86d36935036","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000773","is_excluded":false,"label":"Short ribs","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"918dd706bcf022c83d744ed432e3e8f1b91ff317cc4b537a8afe266b85261115","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011267","is_excluded":false,"label":"Microtia, third degree","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"93d8eac509e2dcdf2bf750f40c87367b7085724e27daa2180e58d83bacf06542","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0012471","is_excluded":false,"label":"Thick vermilion border","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"94ed441b09be17cc61cf98bdf1ac62df713052a0720ce6983c4e6ca1d3f8a302","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000895","is_excluded":false,"label":"Lateral clavicle hook","onset_id":null,"reference":"OMIM:613804","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"9513cc211a6e297b375eaeae540d5f0a8a94de75803a2e38c69ddae5e474e9aa","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0000260","is_excluded":false,"label":"Wide anterior fontanel","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"95a78c58e020c60d5684a72d320a9aefb01d10f22ee64555ad6d40ec01061d45","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"OMIM:616835","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"97d0b70bb18d32a3eaf9649c90df193952f2633510e6e7e79cbaad6e4766183a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000327","is_excluded":false,"label":"Hypoplasia of the maxilla","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9ba4450ccb06e3a823734120e4bbdc21a13fc19499970611346db6d1d825ccbe","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000691","is_excluded":false,"label":"Microdontia","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"9baf9be0c04604b7b20843d8d3f861cdf84453db013db9a0225a994d8771b4a8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0003422","is_excluded":false,"label":"Vertebral segmentation defect","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9c07ae830e54b4ac498195bb26bc1d442094cd8e00e3de7e89c2671d8e25cfd3","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0012227","is_excluded":false,"label":"Urethral stricture","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9d9ce64a6e1cc0b41b70d8218d77075bc67e5ce63365c6e55ffdce7dac5d585d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000160","is_excluded":false,"label":"Narrow mouth","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9f70fa7797f8565cb315dfc13b2098039c645144e96ff8a0c73f46e7ab99981e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000911","is_excluded":false,"label":"Flat glenoid fossa","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"9f8e954265efe20c681b3c316760ad4b240e6af279e6cfc9e41b62281005ce3a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0006443","is_excluded":false,"label":"Patellar aplasia","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9fa9a49dfa69d3533468b92c5c6ead9ffcae408eba457c798a6909fcf2374fe3","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/8","hpo_id":"HP:0008665","is_excluded":false,"label":"Clitoral hypertrophy","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a1f2412f4492824f7e43c5400cf39df7004f8b9bb8712b4172b5eab2db8200e9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001363","is_excluded":false,"label":"Craniosynostosis","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a5c2bfe54b61aa5d4eb35ffc688e1c444068e9450a636d447a9a3858d86c82f2","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000059","is_excluded":false,"label":"Hypoplastic labia majora","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a5d1accb0aa0fe3418f7fe699d201024473fa33356cd335ade7806a3e73cada2","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002205","is_excluded":false,"label":"Recurrent respiratory infections","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a6b66e739a53e24d4746e7f3e2cf5ebf20e5e8095fb300740470e16cc4341330","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0001674","is_excluded":false,"label":"Complete atrioventricular canal defect","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"aa396b37dfa4ab7ffedb3c68472a8a42bb107447b6e3d6ea41750126a4496620","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"aa94b12c7d5ffa71a0ee4cb519350b6d25cf1dc9fc46bcbbd163e48c4d0bb19f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000621","is_excluded":false,"label":"Entropion","onset_id":null,"reference":"OMIM:616835","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ab090a123ebca0ca1d2b78431be0af375f7a3fa9b24040b03e3c1daa9aa65112","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000047","is_excluded":false,"label":"Hypospadias","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ac25ed0092d339de651ef0dbd82abf728dcfcae488a9fd6971e86dabd4a3c0d2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005930","is_excluded":false,"label":"Abnormal epiphysis morphology","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"aca7f74617f460704310377683b5e1d678b33ba7e997364364b3ce5b0e1bc4b6","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"adabebeb4edd0d179937c0ddff22dc54f9b27d1bba314127c6579f89fab8fb73","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"2/15","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"af12e6e6d75ad2d8f1f56f7436e9744b12a85220a53e3319daf5803ebb5ac09d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000325","is_excluded":false,"label":"Triangular face","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"af4102458a0476aba1de486743bd8266e3a57136c8c1fdaabda5e7cac61b04df","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0100867","is_excluded":false,"label":"Duodenal stenosis","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"af80831081ef24d5136ac883408d3239bdd7ae85546ca02c883726fbcb961944","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0010886","is_excluded":false,"label":"Osteochondritis dissecans","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"b10419c2cf3650c66b745e91cbf5ff661ff2c6bd21d65a2a24e0ad2a5db33ecc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000325","is_excluded":false,"label":"Triangular face","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"b10fd1794966600dcf92b71b567bcb6da5940fdb39ecc60373672a5bbbf60dd8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"6/7","hpo_id":"HP:0000179","is_excluded":false,"label":"Thick lower lip vermilion","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b1819e1ffce39ced7c744f8a03773349ca52fe77a090cc8e21b4765f3f684605","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:617564","disease_name":"Meier-Gorlin syndrome 8","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0008689","is_excluded":false,"label":"Bilateral cryptorchidism","onset_id":null,"reference":"PMID:28198391","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"b1dfc2dcd75a4b82847834a5f6b811af1b7ff8e1161a7904d9e96061bebd9c07","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000963","is_excluded":false,"label":"Thin skin","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"b306fd3787b702faa14e030cc84a5269ca3354f5f8c372d641084ca970aed419","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"2/15","hpo_id":"HP:0003083","is_excluded":false,"label":"Dislocated radial head","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b30b0f5d9d8df8877b4137605be098e66030acfa3192b2cd98d0096b50248611","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"2/7","hpo_id":"HP:0000047","is_excluded":false,"label":"Hypospadias","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b4a6fa1c7f57f9049ca2d767480147a26c871fe46345ad4859c980091e5beb2d","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"2/15","hpo_id":"HP:0001631","is_excluded":false,"label":"Atrial septal defect","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"b5278670af774a1a2bf23b829adc948e69f7a9eb31af464d5f43c8aa784d90f6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001371","is_excluded":false,"label":"Flexion contracture","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"b55e902179db80bbb4745325be2da6aed8ca6cff65d10dafbdff1a90c48f102c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001852","is_excluded":false,"label":"Sandal gap","onset_id":null,"reference":"OMIM:616835","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"b58b32c7654b6b0b87c82b8cfa07ba2d4ffe62c82ec553b944e18775ba6fc0bc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000327","is_excluded":false,"label":"Hypoplasia of the maxilla","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"b5b7805ba49c8d5144e35a204cdb01408777b196d0f1bf75526d4a452cb73460","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001385","is_excluded":false,"label":"Hip dysplasia","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b5fee4769a6f22e6b7e2230c472405573f4032f23506a64b22415127ac2ea213","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b73cf647a1a7f27135142180575e40d4fd3981845d995f447deac4ae2da73168","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"12/13","hpo_id":"HP:0000253","is_excluded":false,"label":"Progressive microcephaly","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b74811a3cec7fe367ea298c48d0ce9d54bdf4b6026a52ffe397f7af27eda5c31","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b75a38234de5d40d7d67306986dfc4dba6a9586d2d0a7573cfd927e748c22cc9","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":"HP:0003593","reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"b7607c88666d93db459c37f8b8134ea2fd3b9717c4ca498eabf3630af56f90f9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0011800","is_excluded":false,"label":"Midface retrusion","onset_id":null,"reference":"OMIM:616835","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"b77b606d27839646f1a40c0f00b437337285792b46506c7ae810965815587ec2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0002750","is_excluded":false,"label":"Delayed skeletal maturation","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b7bb2c7489d3d1d8c6582c99272d2a281220dcf0879404fec87273d23886b942","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"8/11","hpo_id":"HP:0006498","is_excluded":false,"label":"Aplasia/Hypoplasia of the patella","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b8952f1df91b5a6a897b9deabfe42d9d02ba6b564aa3051c34003bf079d2644a","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b8e97fac9c394f732b443e6514cad37788d9667e6c5bbd0f23b40b551cccd560","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0034271","is_excluded":false,"label":"Copper beaten skull","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"bc133220f5e9545c5e20572b908af4688aa1060196734825b274a23e1298535d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006628","is_excluded":false,"label":"Absent sternal ossification","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"bc3741a2bce49f647e85260581044e848c1973a91aad5fe05efaec208f7e974f","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:617564","disease_name":"Meier-Gorlin syndrome 8","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"PMID:28198391","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"bce80a476ca0fc08753d1f08fe540a525329274880536f232649bbe51d189a9e","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"5/7","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"bd0107e2603eaf8fce22a681672c984467b201467d467a33cafb5967f6bdf84a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"be0056c0c87b02c62e327ace056e9383734c79ea44667ddc7d230950ddbd9a2b","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"bee64a5a3672c369b05b5b1682db0dbbdae532fc44ff3fbbcf64c8f09b398d3e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002673","is_excluded":false,"label":"Coxa valga","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"bf2741487b617010e989fef6cc3a5c10add4dc6b1493f18093f393c7beed0c1e","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000413","is_excluded":false,"label":"Atresia of the external auditory canal","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c03d4127a6488ef41d2e789ab56a1c0c05c162a7f1d645d51742cbf895a503e0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001328","is_excluded":false,"label":"Specific learning disability","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c0a5b4ca99e9d4234d0492e31ce283991b01560c67e52d227a25685b76ae6924","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c0e4cbaccca260bff367c7b73676ebcb1cde6580c86046bfbc89168794290b1a","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000356","is_excluded":false,"label":"Abnormality of the outer ear","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c0f1cfa2e3ab917992c42ebb7eb6f3967ebdc6359bb8b968e2c909d3a9f746af","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c10f2014b52ace660322fe24f0ba722fd9ac2ec2076730eeaa9df41e39f12d93","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c1447c9277928d98ce468974723dfec8e859364b6fe561d31d2a7b4f0faf3f52","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000327","is_excluded":false,"label":"Hypoplasia of the maxilla","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c1d7d830765777c5277e1b78fd9726ae6be38e9964605b4d7db6f1a232c1831f","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0002089","is_excluded":false,"label":"Pulmonary hypoplasia","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c1e5570d751697449c7df15f96b51e7218d2cdee5e19c3dd1d93278d68f0f606","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0011706","is_excluded":false,"label":"Second degree atrioventricular block","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c20f3074090ff9290dfd8101d98d8c1404a3d9b1686dca4049c617def72d5175","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000823","is_excluded":false,"label":"Delayed puberty","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c2ac7c7a3e0b427df04963148a5dce69edee23d0726f0a587574f40bc20275e7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"c3ad6a2d0471e450634b16785cbb45dec60a658ba6a28a42268d3f2719861871","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"9/12","hpo_id":"HP:0004325","is_excluded":false,"label":"Decreased body weight","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c61bc2e93a13f750dac7a94baa11cb38387fcc91835ab7c6d8812c4de236071b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0010554","is_excluded":false,"label":"Cutaneous finger syndactyly","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c6c3dc02d2d25653ac5e3b3755bb9ecf3b14a17030e441e8c8cb893176ff3729","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002780","is_excluded":false,"label":"Bronchomalacia","onset_id":null,"reference":"OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"c7c8f7e53099d28f7b8f77c4895b19ec8b6f92cfb5a4a70ea20d4c4d277b4998","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c85b65c9abf012675293595aa4bb43bb16c30361ae2f7a9ece43d0f3cb3ddf37","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000059","is_excluded":false,"label":"Hypoplastic labia majora","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c86788cdadccb42975653c73b28b9ae437177f088624000280dc79de7a6c32fb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006591","is_excluded":false,"label":"Absent glenoid fossa","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c9e3212afa647149cef1a21cc6b09c908ef5840623db442ba1b7d364bf688249","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006498","is_excluded":false,"label":"Aplasia/Hypoplasia of the patella","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"c9f76913b6434a9fcbf4c4f5d1642651bd00ad3fe5fe9cf189e67b29818edafb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0002979","is_excluded":false,"label":"Bowing of the legs","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ca1ba613ad6cdef69f05f6fcd628ad84b8fe19a65365620e77bb9745d1c1afe6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"cb1f9613f879566cd0025fb77dc8b3d18f047ce791ad9c499337125eb1134f98","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002780","is_excluded":false,"label":"Bronchomalacia","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"cb61e54c8afc067738dcd391d7bfa28e542c6460970d0293dbab5d6d339da120","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000463","is_excluded":false,"label":"Anteverted nares","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"cb622b934c85af756f2c5d5a384fe5e9e6d5997e95b20c177bb784a98c464074","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0006498","is_excluded":false,"label":"Aplasia/Hypoplasia of the patella","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"cc569c98ba80e7d2b665cfaa1e2725d3b59272dcb19dc60d9fdcad99558f782f","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"cf0c6fbe228d842f80d244f6122db3f04594388c44ccec0e88dfbcafd05a65c4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000308","is_excluded":false,"label":"Microretrognathia","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"cf4564b7c219703431fdc79391bc2d195ee44d76ab6ab89237d61bb0b3465334","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001601","is_excluded":false,"label":"Laryngomalacia","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"cfc442363fa73baa5111a8ecc86425bc11b1d53b36eb52803ef1119e3f88a9c1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000895","is_excluded":false,"label":"Lateral clavicle hook","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"cfe999957e60b21ee39c48813e27a17863a66602a59610c724e13fbae6447391","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0009939","is_excluded":false,"label":"Mandibular aplasia","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d1be7084b5a97cff89357226def7289ed9ce3e1b8b6ee2f50dfb0d3df1e14cf8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"3/7","hpo_id":"HP:0000327","is_excluded":false,"label":"Hypoplasia of the maxilla","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d1dd4d395466faefa3d7903054f04befd0ed5f1cf7986603056dde184b54bb53","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"PCS","frequency_raw":"12/12","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"PMID:21358632;OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"d23f7971b9208eb40490c316da322bd6c155e94fdd0a2c44e023bbb455abe298","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d2a47bb125d07e974027ea3b104311bda9bec1e9fe4aa2078998fe91591c45e3","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008665","is_excluded":false,"label":"Clitoral hypertrophy","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d361b7e97802472c3561accd36db3d5b4e45a36505c3c9eda3b26171925c60a6","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002215","is_excluded":false,"label":"Sparse axillary hair","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d3eaa356b23481fcbed983151bf91a42f03d8b8855147db43377044e6340ff88","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000377","is_excluded":false,"label":"Abnormal pinna morphology","onset_id":null,"reference":"OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d4f840fe6c0d50407b7a0447daa81955583bfea41a326aaeb73689f54b21af30","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001762","is_excluded":false,"label":"Talipes equinovarus","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d66b25e099b4b49264a82a783f732ba1e8f75f755cb29566c8819e14ce9cf74a","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"OMIM:613804","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d6dc16027c397a0d3da84179fa3c120fbd283296d677b5acf10756ba40291915","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0006532","is_excluded":false,"label":"Recurrent pneumonia","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"d9442b017fc62ee23f3e831122b181b058d4d80bf53663de455c9bd9ce1e3196","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0006361","is_excluded":false,"label":"Irregular femoral epiphysis","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"dcf5e900a3bfd06788f6383184d113c5360f4f7c71e045e56b6869852060d339","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"2/7","hpo_id":"HP:0000160","is_excluded":false,"label":"Narrow mouth","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"dd428739a58953936a5d4dec96d8d1866f4c90023f4b827be485b0814ca0e9c8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"df12e4c7e1d6b4ca90e006afcceccafbcbf694ff7f7961d9b0e1030ae129723e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"PCS","frequency_raw":"12/14","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"PMID:21358632;OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"df367e82362ba6dc09983463eefa400ce7bb52fbb11bb0f6db3423190aaf1021","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"e0b2f43819f7e9ee031fd47e33dc66d8b76dabbb84c0d9994c763709403e175e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000176","is_excluded":false,"label":"Submucous cleft hard palate","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e337d801b0f909e3af8a260708b647709ff18050686c3c645884586236e9cb8e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000327","is_excluded":false,"label":"Hypoplasia of the maxilla","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e3c9e71ffd0683811d6d6b71ed8655e206b718ce33c05943e591a736cc6b1793","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:616835","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"e3d436e251564f5e9e3a582b6f178e08589103cf3ae78107325c93782fcf5ddf","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"7/7","hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e3d56cb5973f9d62e568a9525b8bb89e9ea88f51d86db755f06f34d88d56818c","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e3e0f33497a84a45f6cb986416352c2dadceb39dfa6c553164aa30534941b66c","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e3f6d59e60cce48905ef7723587e29fb268d3cb7b51d5a9379c3036f17914b6a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0000453","is_excluded":false,"label":"Choanal atresia","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e43f8911c38c34f8a59c2cf4f49e71e97461f4317ad2533912cfdfd452ca1109","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000358","is_excluded":false,"label":"Posteriorly rotated ears","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e47e1575f59e5bf39eeff1b5e0dc69e76e2a4f2deb3a50a11bf816fc6e1bda54","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002225","is_excluded":false,"label":"Sparse pubic hair","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e50405717dcaf586ffe910c2b9408252a178ff5a3d5d18e7b4ed8b45035954f3","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008736","is_excluded":false,"label":"Hypoplasia of penis","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e5a7000cb8837e0e8d5e11296ff5016fda003022578d7d0c95fbcf001bb4e4c2","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0000358","is_excluded":false,"label":"Posteriorly rotated ears","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e65cbcb6d0b11984f061a6e617f022e50ff20fccdd32644bd150de7ffb6daabe","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e6a800a76376075f1f481b607e1245a2fdab3e0254583507fb750bdfc6b38970","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"e6af2d17e6bc4ac81c1cb29e41e43ffa72c8622164e5d6d9b2a150760dd0aed4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002750","is_excluded":false,"label":"Delayed skeletal maturation","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e790fc60673a25c53edca0a7000dcf4326597a22a190fe28f17e3ed3feec9022","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000430","is_excluded":false,"label":"Underdeveloped nasal alae","onset_id":null,"reference":"OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e79aabf24821313bc1ea2ae9a194e5f222d85c72b9cab8d80eff0e039dce7005","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000527","is_excluded":false,"label":"Long eyelashes","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e917cd3a0f5e2a30725175822586f9e0f52405913410c2fbd470c44170698158","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000883","is_excluded":false,"label":"Thin ribs","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ea447bb394f5541d123d7c4e52a79dbaf5337b54ef1aa967be619108d5602659","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ea8258c7caed589f31a1d7e1fd00855440007ca61f4e0591817c5065251b382c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000772","is_excluded":false,"label":"Abnormal rib morphology","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ed33290ac32565f0d51eb6e6654469bcf5918fea2d4128aef6703f378ec94fc8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ed907b6854276799c122af403fc4f171d0f129df121a8644653db63ee3a55afa","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000237","is_excluded":false,"label":"Small anterior fontanelle","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"edb6e17d2ce0daa786f002c2212cb2362e23bedb63b7e331ba724df4c9fd3401","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002705","is_excluded":false,"label":"High, narrow palate","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ee088d13ca797a8a63e8647be668656a6c5716f2caf426eceb820620f605e067","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0012745","is_excluded":false,"label":"Short palpebral fissure","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"eeb3a45f5209d628da4e9871d6675dd79dcdb78800bee83006c8dafceb22125d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ef7c428954b7b50e4ab286d56f7154f100d4cab77286c26f9aa2b92cdd286ab8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0012471","is_excluded":false,"label":"Thick vermilion border","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f003a018cc3734782edbbd9c83dd3ec885089fdc8665ae2f23a4b2c767efaad4","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f0964671bebc2603d3f0ed6d8bac2e569fcd51cf2b4134a00c2a7105e02eba95","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0006443","is_excluded":false,"label":"Patellar aplasia","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f4dd5fbb4783c11e0d69aea79b17a27f86761a8ccdc279a3ab5bc286fcedc84b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f5bb03bbdb663b8be3ca67b5a4c8ee7855d31da21c157cd7b84a270ef5b10eae","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004279","is_excluded":false,"label":"Short palm","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f668f55cffdb7e64ac2b2f7f4e704388334b6cde06be21bb8efcd1957f89d570","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:613803","disease_name":"Meier-Gorlin syndrome 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002779","is_excluded":false,"label":"Tracheomalacia","onset_id":null,"reference":"OMIM:613803","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f7b566d95e953f02074eb1ffacaca6cf568c84f6238b72fc8c8ff608665263cb","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001623","is_excluded":false,"label":"Breech presentation","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f827d09fe4eb0aaff3be4ecd895415b7f98fa021cd0a55c9da2fb71aa7765fa8","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0008872","is_excluded":false,"label":"Feeding difficulties in infancy","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f8283e416fc0307809812846005ad7edee8b338605323ebaf5baf46f530d3711","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:616835","disease_name":"Meier-Gorlin syndrome 6","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0002786","is_excluded":false,"label":"Tracheobronchomalacia","onset_id":null,"reference":"PMID:26637980","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fafbb5adab2c084089bfe1dda7dc1087ed4b5b4a32ee30b35c0c75d2871a90f3","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"3/15","hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fb64aa91a24b651946b7c9a97ce1c4283a92a3101df872a07d9f5e4de974751d","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"4/15","hpo_id":"HP:0001545","is_excluded":false,"label":"Anteriorly placed anus","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fb881b19a02c0066a8386e3160b2fed05298244e5e34c3f74b67899e9d13105b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000176","is_excluded":false,"label":"Submucous cleft hard palate","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fbefce5025dbfc0918d351fab965d877907d48a5d4770f2cd2ceb7486fc77423","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:617063","disease_name":"Meier-Gorlin syndrome 7","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"PMID:27374770","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"fbf6872315f0143dcaab77b2e25bddd4287a22d9b4abdc9493edc46746690b61","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:224690","disease_name":"Meier-Gorlin syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003042","is_excluded":false,"label":"Elbow dislocation","onset_id":null,"reference":"OMIM:224690","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"fd4c0014153aa9b9eff2dda25c67a04c4275e27fb9b9261c4987e144b645b28e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613804","disease_name":"Meier-Gorlin syndrome 4","evidence":"PCS","frequency_raw":"2/7","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fdadc506d60541fb496ca5238493b5b65e4abce3e4cb17ad6541ba09bf56b55e","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:613805","disease_name":"Meier-Gorlin syndrome 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003561","is_excluded":false,"label":"Birth length less than 3rd percentile","onset_id":null,"reference":"PMID:21358632","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fdbdabcdecdc0242bea9d5c80884268713e6b21e53b609325bd54855a97ba3a0","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2554","disease_name":"Ear-patella-short stature syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000064","is_excluded":false,"label":"Hypoplastic labia minora","onset_id":null,"reference":"ORPHA:2554","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fdec6c0e572106581be24a3602c997725bf2514cc3ea30d54d42a61861a09734","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:617564","disease_name":"Meier-Gorlin syndrome 8","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004325","is_excluded":false,"label":"Decreased body weight","onset_id":null,"reference":"PMID:28198391","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"fe68dff7339a307dc8e5ad7e549d0d5a58db6659676783d2342d22b1e4968717","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613800","disease_name":"Meier-Gorlin syndrome 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000268","is_excluded":false,"label":"Dolichocephaly","onset_id":null,"reference":"OMIM:613800","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome\">Meier-Gorlin syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Meier-Gorlin syndrome can be caused by mutations in one of several genes. Each of these genes, ORC1, ORC4, ORC6, CDT1, and CDC6, provides instructions for making one of a group of proteins known as the pre-replication complex. This complex regulates initiation of the copying (replication) of DNA before cells divide. Specifically, the pre-replication complex attaches (binds) to certain regions of DNA known as origins of replication, allowing copying of the DNA to begin at that location. This tightly controlled process, called replication licensing, helps ensure that DNA replication occurs only once per cell division and is required for cells to divide.</p><p>Mutations in any one of these genes impair formation of the pre-replication complex and disrupt replication licensing; however, it is not clear how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the cell division process, which impairs growth of the bones and other tissues during development. Some research suggests that some of the pre-replication complex proteins have additional functions, impairment of which may contribute to features of Meier-Gorlin syndrome, such as delayed development of the kneecaps and ears.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Meier-Gorlin syndrome?"},{"bodyHtml":"<p>Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).</p><p>Most people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.</p><p>Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.</p><p>Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"meier-gorlin-syndrome","sourceDocuments":[{"name":"Meier-Gorlin syndrome","reviewed":"2014-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:14.140653+00:00","label":"Causes","pageSha256":"0ad5569b0e2f0033dc52e43f55a11865222f81dd97c44999456aff7de0dab805","sourceUrl":"https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Meier-Gorlin syndrome"},"schemaVersion":1}