{"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:0008701/OMIM:200600","label":"Achondrogenesis, type IA","mondoId":"MONDO:0008701","onsetQualifier":null,"recordKeys":["0307963a9c5087f668615efef8f392639ce4f0382fee9d5c3f29de2e640c756c","0ac7f455839658a24506dc8fb4f2865c9db9723dd61ec01d30b64ca19af7cc70","0df274082c3c5c90d61dc3a4a69705f8c545c16a01819800154bcbf1d4f6224b","0e0b0650ed832885cb1cdd67ff5b7f144ebc04dc02896dcc2e6ebb1beef0ff11","0f75a065d01e7943a6a70f4d722f1b1eede28726a0c3d1f55df0a68f2a32c132","1125a7d09488cbc477f0ef07586dfc81b879a8dd1af80f23ca43be1da7f9fb69","252695b76edd898fae34c5b1e816f7b08692c05fbaa378d7ec41a1dc45f1b55e","2542b948084bc8587dabb448fecc1d4e196d101b8beb17bd3434a00a48353f5e","2ffce3460432b07c5809f26a249a506471272ad028c7e4c68d097bc1b1c8bf8a","3d148c825a298ea1cc970cc6c3bfe650eaa8ab37e8dc4c7cdf2bcb36e18020a9","40a5074dd3d244b2512711e3500e2693d6978df38847fa9e129a620d01fe5f6c","4f7316364a23d4debfa4ee55a2fd28cb75e557895e07e74319d02392e12802fe","59a54e7411e4ad8a0bfed719e2dcbc2440b5690454ead102f223f52c1bfb2397","5aa9289ea9ee790a5938bbcce8efd1ade20a86844ae5dc054b0c7b9072d5e55b","5c1afab6a010cdc3138a789f17ceb7366dd543943a9f689ce6c0506e39caea5d","5dc0c97704cbffb5bcd6b7d78ea32a4802c608e56b842565cdc77065fe20942e","66b5375b5588494e0e6854e002cbd8b9f59dbe2ce9d23d43517bbf8c253509ad","6b38b39881a721e2d5556a29c98deef7a5519c40f401498d88615fcbc196e0a3","6cceeb442952e47c56c6390d6a8e9cd890551908f0df89e298d9a53bb09a38e9","6f11280575b5a83235aef6aba7a8b2451656de83a6f20bbdcc912c7091e254d2","71df33ef94e9fe794b1aadc95b83d239e59cdd1488d30804e828a2a9f0adc362","7ff7a31f7570b792d23fed5d7fe712b4f4111b2e0d4756d4ddcdce65297aded1","8cddc2702ef88bd4f535aee5486dffa0c80d1cbc2c453d3a9be9e91cd1f4067f","8fb6bc5a07482724f8f4f4dba9b13ffae52848ee8951a302d981b1da8ca8d0bd","9b0ce8131ba12b00372bb58a1ecbe5b764a72b03142437c95a92fa4ee6b6bb2a","9bd4116654591fee9005a017ad4d820b789706362915334a909d388f44c4819f","9bfe3a91d09a439828762ba15625145aab8b3fd565653ffab2a33d7f29b58212","a8ada249e63659c586fdfc99ebc248ce3177cc218668f6de212786a5e8f17d0f","ae82f86aaf0f9580c37e56b2cc6954a99040b82a2d30f870a238fd2fff2dddc7","b1e2e050d28369028d7db287dc1082f99e3f522d5e9e3c84e0ca241503fb4bed","b735ee6dfa14cd04e692739eaf1962f6c38b62ed88af1a4fa6102b8291af0ef2","bb4683e4714d6bd06d7c1de850a370858d933248e1956d67ed5e35fe6d4c84b5","cbf14d659e206aca54d1256cb08ea1376082e9730fbce7bbb3fb0abf1eb35bfc","cd8e0906c0671759a8a0854a72e385f8fa1c16322705c5d4f83cd651ba776889","cf2db1df0979dc30ae65190ddc34d18c7e75a4475dddae5554933f57f6120377","d54cefdc6c7363a6662e86323ea6704506c7539192d5b8f22828b7bfd06c3e84","dfbf63394380a8d954f9ea37eff0d063538cf12b6e3a0bc4a3643370640f4ac9","f058f82ee62a9323cfff90b790f6ea964ec2c25667d070e1704d42b6c39445e7","f16398764ab2f2fe2a44c4c6121a0ab3a76f6ef67b0e661361751e754a22e687","fc8d91fe21e63e855902cab33198784f1a30b0a797fba2b4c889af548c6bc0bc","fd1a9698b1ff751d88134bb2fba9dd51dbeb70abe09749a2020bc4ff36b1cb27"],"recordQualifiers":{},"scopeLabel":"OMIM:200600","sourceIds":["OMIM:200600"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0008702/OMIM:200610","label":"Achondrogenesis, type II","mondoId":"MONDO:0008702","onsetQualifier":null,"recordKeys":["058d7bf37d57262b005e1c0097a93cf32a222cfc5a4dc2232643ef7fe137961c","22c456ff1370c4369f4de13581e80a76003b8535bc665e5cc6aa5fb71121b04c","2487e84114690b30dae7dd181ad82c713c7d4ab73bf065424c04b40a9b007512","36cdf695d1cad234175a5a08b3c3825bd8712db3a9162cb7871e70801198717c","4f08fd5da9530733eeb7d5ba1cb8163ca11f4698b3b1f1b57227c948f5653311","5d98fd992cc15e649ecef8842e8d7f421b43fc27bfcdbdd0766b9d88efde783f","61e5d2d6cc89442029db50afeeb0cc81298aed30761b34b8207357c76698540b","626c8bb671071c8de26410a521956755e2d927209a6303e3b48b79580cb1b4fc","6b11f8bb78455ee4a6603b4bbdbd8e7ddaabf0ea26d6f7ba36001ae0b870a42e","6c198c08f6caa7bd6e727e796dc235c670af4a2a725c4f3cc804c6ea7c40c196","6f670278bf4a34676645a4cf0a19c26d751b5f347d91f99f9561a846bead83cb","7e6c262fd712dd5d8a82f685d6abf8bcd9622fe67e3e48424daff6f633d9834f","7e76cc79e8fd5324486cdd6c942da2ad29343232df7f14dc24c221e2a20359d5","8102802bfa2cf074c905ee1770fc626d4193cc181d5051bc334ce4ebd5c72693","8ccc69cf9f9718bb9e147eaa587be9d12df9a944880236a2638673146255cbbd","8e9534181e0db60606302284e71965110a44422f31b442c15005c875c027ac0a","8ee0657727f46212016a4b9ad69b5431ad044cb272902fbc099b5acc3b5b1044","91b4573a8bebefe0ae6d8bbfb49b9a4221b74b8e01dc08b9f9de8b364d89550c","a1b667e75111ce688bed7f52e4236334a323562cc1789ae99019f27987e4baaa","b473a3555a5e7ac3b49de5900617d9f94a9cbb123d44ed7a2e6445fb7adcbde7","bc2ba31dad5f66e16e939f38611f53efeaa47b3fde014030b2a8d273d71aca16","bf7d75bc68a75a1adc394243abda4ad3356110ae710dcc8463449c89b3720574","c601b80031f338a96ac9088356cdd59ba83b91785a14744d21433e038bdda5ff","ddc58d835897e8c856179a0cea5721abfbc436f6336d422178fd00a27ced4ec5","ec5a4ba8ce0b2aff2e212d2be76601700714c93bd4b41c8e5af1df7da91b6a7d"],"recordQualifiers":{},"scopeLabel":"OMIM:200610","sourceIds":["OMIM:200610"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0008703/OMIM:200700","label":"Acromesomelic dysplasia 2A","mondoId":"MONDO:0008703","onsetQualifier":null,"recordKeys":["04a4809f51337dbb68ddc15becd40500ed49c724e91e85c19790ae46953411f4","2d2d6af207e1cc7fd4bbbb21f1d0fab7aaeacd224cfd39fa302b6a632795b108","306ba004b6d5e0d799325515bc43aebca1f3d1b61904d6dcc3d10126be829bf1","3193fb82b7812ebad8cb773d2a27fbb115dfb48d7496747a8217077b63b11329","5d9c5fa83b0fb507c60fe2cf791885b5b3bbd0efccd2dbb791530c0c8f59a6d3","7e7a37f174984017b266a8804b8de14eb0850c68629b3dbc6c71ac5173a5b171","8d703d2445978d38d682fac0b82116ad39dc20f64506bbef99d4c8d6907b1186","911b261e3cb8bd13024dbebb5e16dd60134852f9df90984e01370afc257f9a37","9a8f3efeeca7cee2c5603137c3aad0c23971d06ae6fa5491cf1b65134d6d9939","ab27bdc0bedb2bb5c2bc671a34e12b0cb2f4ba16da8189f27ed701e9188c3b32","adb5b17b49b29173b80e0f17afebb81eed2a6fd36887a0dd9417f7b3a4ff6c2f","b408083763a446f4ecfd2447407ffb912ff560837a27d82b77275def4673ef55","bbc851aeb894d6b7f576e0e22b574dd67eb77588f34a3daee573759f65555087","bc09cb31839b27fdb48e73888d5d536281e54e30bc843aef2664aaa829032872","becda9af16c8bdd067c83b65803455ee06ed1fdd5a4cf7d4897430fa8dea38a4","d8cc8e4bfdd666cb06e2f8a4816ac8dbb6f7f8ccd6a7ccf688c4f88f04b10ba6","db9700d836ec42c155c1cc1abc75359b0f197e20c6d90551f3421fb7df567fc9","de54277bf7d06636a946b8534959a9cbb3e40b701d8b55b1bbf2802178f90bd7","ee12e38f38da86e7aa6776276901062c5f8c05da039e5082fcd6e0478bb3a41e","f0ea9ff3194e01fe56217df114de69aa1011f01f12cb0d35f85b1d6e8c71a6c8","f48250dddd18642cefd589de5858c1cc5dee341c1052806ba049353fa7f255e7","faf665e26e56ae06da0a0bcdbb72a891f4b86f2bf1b8170192129f096dbc2038"],"recordQualifiers":{},"scopeLabel":"OMIM:200700","sourceIds":["OMIM:200700"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010966/OMIM:600972","label":"Achondrogenesis, type IB","mondoId":"MONDO:0010966","onsetQualifier":null,"recordKeys":["0b128760f53eef9d175840bc23794225487ae41d5967aa45a0d90c0dcbee72b8","36aecec7f5579e6a378dd9685a95a7efcc75aa05f4149150fdfabd238e1ad000","3ba68cdd19192d4291ed84717e154e8d1fe50b4f06afd31a9d5de63dde7b905f","603037a1e82dc1cf5c5009ae7dff31399a2c1e84e76ffcbea4741ea30499c521","63436c479fa742dc3fb4316c1abfab03b925854b0af04d4550a4568e38e4e8ab","6f65b6546819ff7d46c1e58ced71e75fe6b2d1ed3b61a15260bb59eaa2fa27a6","8967e9c1d89878ae375e6e18bae53893f9f2ab8fb172c682ab69efb30a07ca82","94a9bfa8e05584cfad86f71b5215997c222f4eb3410a1855bbf24f973052f82a","971f72a2a4154a40c100f0760b167bbca3e54a49e8875f9408df83ffcbfbc7d2","9b115c74dc6ecec5c9c954d6ea70607a06d132f0c3f48ce4429824cec8a7101f","9b9e3d3a4852546b08ae4a9b592b8edb1e7fbc893c63a1ed5831aa1a74f68546","bfa63c0860a2e973bc879d1acf2fa6ad973126fb3ad2429013390f5fcca6c4b0","d1332481607b22b6675aac9fe9bd59d5245bfdc3acef92f6ac1d6e3b803e7f42","f2c2541156953eade670dcbd37aeec6944c416ad640dbd39b04f849594d768f1","fe333b224fba1484fba1faa8c7391409513a33aa26eef3ea97ac4a3405a92197","fe35d65cd770be531a9ef5003bd14502b902d182dff3505be575abea5a453326"],"recordQualifiers":{},"scopeLabel":"OMIM:600972","sourceIds":["OMIM:600972"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0008703/ORPHA:2098","label":"Acromesomelic dysplasia, Grebe type","mondoId":"MONDO:0008703","onsetQualifier":null,"recordKeys":["216452a4c80727e72d9174f95ed9bcbe64bd87e42b9ccb4811a3c9b52552a825","425ac2643eac2b05e095fd1463a8395d2c8101bfbaf42d2a1a84d9b374cf5840","5210a4fb5b93839292e0793fb03f3f5fd9cbf20b14c1da859d4e1fb6015b82fc","6f9d51ac77879f423b95a6ca55b2d47254d637a068dc87ed9f040f71bf532d9e","751212464f6767dcdcba716f02dd230aecb1d59d162e5fddbab3ad392979413f","86fc4ce87a206e5b75ae29a0282a50c3da875a46074757bc966c96b92f5153df","8a5d6cbeab6ef920a7b46c2d83cf05e447031ef9ef381e73b1ab2a02ec2766da","8b986a1db6cfd3d1c91f9058cb84de7dceaa9a1bca61b18c7a9fa49aec4ef6b5","904e31912c25b121c0a16af19a7e1c2d2bfa95e9aea147085a54dd70c3fed1cc","9bb974b937fa7f57c5f3b020045ff391e2211ed60aa0d12f01f7785fd4faf5d2","a35f86c231f47511b888a02ec83fcc74884be181906d844643d8a4e8ef5ffc3f","b55f1e79e8232adade27d41b80fdea57f75ef47d662f2a4d049fae2d920769ed","b6af0a36f0499fa6f19fb3807e8b8138b1667ae402ce11bd8729f0457ef17205","cf55393da05c36a5c88221c15ce6cb915d849848abea62a5a2e08d1fe87ccf76","d86c4b6defdb96cfd79106eb2cd441c1a5ec46c71809b4086da2b4fe5e648428","e8a5d587b171d22b7f3e577ba13a61ed6159f66d40e92ab0fa15419ac53d2dbd","ea65f298ccf50736d614c3e8f05a4acbe4bf3eb8d9acedb04aeb48ce8bdd5387"],"recordQualifiers":{},"scopeLabel":"ORPHA:2098","sourceIds":["ORPHA:2098"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0019648/ORPHA:932","label":"Achondrogenesis","mondoId":"MONDO:0019648","onsetQualifier":null,"recordKeys":["07aad32da4e4acf916109187af124e8289a4fee7782cd79a423477898f6374b6","09014e14e66df435d1e78e61d984c3b97a425559e0a4c1921455af3d46c81275","0bea21c40c2150b7df250f93c03cf26cf6cecf2594ee9f8d86c9b6fde6f8874a","1101b77e12d3279735f28fb05f9d8a1a021cef07f764d8f2ec3ed4c8d028cf47","152943cefd8edc7240c48a473d807ebfc6987821738bf7522bd277c4764a682f","373174dbafd8b856506889cac4c7448185206ee9199f23dcec39d5d13bbe31c3","3caffc5b5ec5a2b6504a1935831dac608b67682e6a95ae16f12b80a10936d197","42151c920496652d467f994e5f41c24050225cf1597450eff5cc928ca4f43186","44b3d1a384cc526802991529e71526f2101d51b9b08492f8392689998c00f0ef","44f6a5b442b60ed3eae40be648c58b3692d24b2d2abf99b02f94a1468f11c88d","528240c360a70a2ce8571a6ba1a4d1ce2d7c9cd19fec0baa815f60386844d892","5f8c491e46c020efc40df1416a292f52300cd722a9e458e53d8a4555d8c6d5f4","663f5d81d778264f3280d43f4faf7d7488daf1ee2a8856aa6b849f22755e9b13","89637753d8a28d3ce630c0af5c680aac05a20b374e9222d51e4525f3b06e2194","8d1a45ce77546bb70a2e3c75f626b0d0ff74fd02574fac830f8b321991329b7c","92b3353049d3b4488e88d91e40baf1b0119affa6bf89e2086726116727c0445a","942cac5ce64391c8151489a8054401392cfb79716e2d77b220b94e73fe9e1e4d","9fe32c9ccfe6b04ff0f1e29221776ec88d80d6bbd902a7f88f778656eedd73b7","b0d5a65733a7afef68a4503850392586baff31755422a623eb5886571ec39ec6","bf706464e56d469663e4896dee1da3b74a8e9cf8d99a6a970280d954ecf4dc0b","c3543b9c33417d2c7d5c5c90e5773f806c4a35792de2098e445e91d629ff3309","ca896b921702da1ba4b4ca05307bcaaad2d81999c0509d96aeb5fbf71ece174d","fb751e10740c3a2bbe2af4f2e8c277c84323a22245b990e64c92540f88de6f38"],"recordQualifiers":{},"scopeLabel":"ORPHA:932","sourceIds":["ORPHA:932"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0008702/ORPHA:93296","label":"Achondrogenesis type 2","mondoId":"MONDO:0008702","onsetQualifier":null,"recordKeys":["01c8fd21b0f846a54ab2f4fb5fe8b6513875043a6bd30e877ef4425620503968","0d59fa379c3e68656244478af47b0a418cf458f7ef5b85c5dea598faecc2a3a4","32b4c5b60889d330d4562e5f01f7bcb035856c3442efe4dd8ea134dcb7c3605c","37652d1d2759d479d691247221aaadc97a5e3c76f7910a41fa9ee05f10769ba7","37ceefe1d559beffea7831ecb712b5d541c153e7d61962fc3cf9a8a5f140c823","581a2aa289be5a39c2cbe28d910dc52fec43fb9fc5460f02ae9faba7d6a3cce7","58fd5b5af22db3b08abf94187c4676552a7b2328be817920e888d60afc91819e","5a31624e66abfb47be1154fc5c505bb74487bae0f9375e21c5335659427b1829","5b3c8076e9014aa7cefcbfa6435c74a921b449f2465f537f20b360546e873a79","6beef231e92f1d55355d7b3d63351f0160ae8ccf47e7a45d02fc2665b5842b9b","7511f63d2c9eed696517d9f1d3343db30cbe868bc1a742d88563de23ea3b3186","796c8075fd086bb1847c7907ce450917113a95b8ea10ec84b4dfee114d922e81","974a25fe889a5c9319f65715834ed594e048d267a098224e66285b5c3f586015","99dffe5570babdca3b4cd37d6072dcc68c20d6ace634c34f1a31821b28eaf3c1","9da7d4b1d8f4bcf486e2cf7d3494ca8e9f4ef465b4e341662b901d892984deea","9f4a4cd39a977738dac06596f88bbed4c8a79e5360a0294b8ea78867ccc26e26","b437b04b8a735e411bdaf2984e4a959fbeda1ab91b8c07ebc11b529fba8a7934","bcafe800fe72709fad6ad8a3a8353dbfd10821724a428f3f0eab44c0248f2a10","be84c06ffde1e28bfa85f5b51b82de5d19eabe7fcafe158d1c16399355a30d5a","dcbada0ea663f6d3028f7e8a0a378a6349f0a029a6a8a6db1c68bcc601be1727","e2decb4a7b92dec36ce1d15b2e1ac230968a1ec3f5c22da317f291114d31937a","edf913317c432f4124aa28748fe6ce37d4ae533adb870332a81d4d53933f471b","ee052efacbe2d2652db3c1e301cd0226407013c1fa9140140d3cb6b8c482312b","f078e4445e544ec5e60f3c8a7d5d75077fd76d3e79a92a96fdbd0ece8d533384","f142e217c0de549e2a96251d6f167fcab08014a5f339f3d7099a3f3cbd9770cf"],"recordQualifiers":{},"scopeLabel":"ORPHA:93296","sourceIds":["ORPHA:93296"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010966/ORPHA:93298","label":"Achondrogenesis type 1B","mondoId":"MONDO:0010966","onsetQualifier":null,"recordKeys":["01d00115d27b929db28a9b2e506481ccf99a2b2b944d5c412bdbbd720056a179","063001a1f50491df3c618062f2b923eaac6192874b2bf8f0d30ee17914e92674","0ef7d10c4b6b6205a31d60d1c9fed6550aa2dfd440a20989d71a54e9ffea7c5c","16e713a7988e19c5983e3a6bfdd17424b6e4d795f1de1f5282c19f77c4deae23","1fd6951aa6c467ccaaa46172dce620a61cebb462232e89808eb5d8bec88c2146","27a6a42da475bf9696a474a9715b9c6557b539eb37297b95467e58d124171876","2b61e0fe910fa4ac804c3c0fba723ae102b7a3dff9ab1b52e905af8540738c11","41757272e1a3142a83d73ff65f8fae7ac5da85fe82397817f6a49b680bd8b3cd","45f4ba714f1dc77f56b83b3a4482d04c0bfd94edcac5e6bd264ca47fbd940932","465bab5551e5548d97a65095c2317f09d06dd08cea2f65fe248025ef08624de6","52704d42d2701181ce7a749d51c507a45d16bcb44f74c429d0664f55451a9886","65cc5d8b094cdfc870810cbda0dd909ed4c9a658caa7b5c8305a00d9a0df675d","672d2015039e6a27d28fc827d16f0c84691182639f958271b4014117f5951afb","721c9204be0eb04e2e89b484022cbe2117649db6d2367e0fd3237f7c07aa177e","7d07d9f6ac96a1fbcd4f4636bdb0d7656378cc784118f2a0a58d6c88cbcd0999","7f04d041049fdeb6864b4c9ad163c349cd3a685e5bd53b30fbc8d538e8b0c772","9112a5a81273635ec3d34fb539ed8fc97d0e1ddfe71e3f6fc158c4199f86c051","9fe171dca427071fcab8a3998bc2abbc8a499bcf7a9a561446d4db6494bc46b0","a3dd1c2c04e0b4273d6df0551808502ba87e0e825a404d0bfb610f4d2c162cdc","a4d82e4a1c505e034a5de659076f8cffa9d01133eab32cf7ee483588c1b74196","a72b516bb20525a541d416ea041f8f526eaeaa852b2411d2be83a5fdb45f4610","bc31e5249908cf9c0d3e1ac18a6b435dbcf4fca2baea58886da4f12ef15b7a4e","c3fe2a8a64761871ab3445f72e1ba0bc66c97920f477853af64dfbf8f67c049a","d6932f43fdaf0789aacdb77caaed02d9af0dfd6555d8dfc7fccf28e3d8602fa4","e69691f5343f9eaddeab2a548a0469d1c992808ad7d14b2e090d1deda3b6b1f9","eb267f3bc061398e9c305309a491fdf430ddd13dec30a8f21b6fb9bd32eaa545"],"recordQualifiers":{},"scopeLabel":"ORPHA:93298","sourceIds":["ORPHA:93298"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0008701/ORPHA:93299","label":"Achondrogenesis type 1A","mondoId":"MONDO:0008701","onsetQualifier":null,"recordKeys":["019cd649dbb914f261afdf56c52e84535a9c1a53452e01000e6bbfa6eb0f4817","07aa178bb724ae12ec4a88e5e92895f868d4d191d285262d352e8e152142e269","25ea4e5b476fbeca89a67c3ae0c788ff341ff741815639d573bc0d685c766146","333e643652cde6673530e4e970a1c6327c5d5b2fa9a204506eed3832a1bc16a3","45a8c3aad00377ca71400d1cb42827409c959eec78d1c93b2082542e16a4d1aa","45da9bef91437e5a2720356bb2161e9ff184692388851212bbf0dd85780c4fbd","4e5a9ee116e63ce6a702b5c423996a73cfce1e205903e9cccbbe849be2516f07","5050bb88a97a1cd653ee337102dcb94f808fb125b38d690eaf2080cfb1f6d311","53a5e81e7979af9cb352e38b7599ed58a846843f347e0c0cf891bb89b846c8f7","657704229ca05e7fa2e65e7ee1e607787b6ac7fa13c2e6a4a570b91df9d50cd1","6f5041095a7034b21a14e8e3d8e87e1dd03d85cc89b14354d0dbf996e2b737aa","7c321cd73a57c374cbb9cc9ed8e317d2ff2297a255abd4419f8cb99a046fd574","8b9ba9cf6d068baa47707398d637dac797e4b8c505f1ef4648019b9f4f2b9ad4","8ca97fd226ee6c1969e196f72b75392795152e79add5c8ca28a0cbb61aef29a6","8ccd4806b01b40fb5e70f624ec24c432926a9c4e94777d98e0fffc517a0f899a","a1116fda52f81c7b3b5012c2911a21d03f12b7f23fa1ac533e938ca2978a6f30","c18a5548e468b26b840d2de35a43d9787d29fa28fdb9b77e1352eb1d7dc954c8","c9e61d813f8e9bc924e67eb628551bc79319e8504010cc46f0fb5ce54ac05d00","ccaaf58eca5ca20ce8cbfefc2dc662e6be96d9f140fb9f414017a52bd14c8001","d6002c15b75b2f0045b8632141d586cff6340c1941f57bd2371a9f162289bb7d","dca169f78dc4ece4c0e7d214f85468d846a10ee97d0d93d522793429ba9eaf11","df636801b3ab63bf71e00d5b48a29afbbaf6c4f6318bb389f67ef103d00f9df8","eed9dcec1b3e757954e2ca642ca5a1770588d631e3b405e7802e687032df92c8","f4cd059d9156d4ef9048451302f4cac1a3634da6713c97e85f6612824e107437","f9cadf8da4ced61bca8bec6c30fa47adb52f42aa5336b3f32bd9202dc353ccc6","fdd68029173f44ba259d0f09e98a54b171bd3ea1a8ae4c47f16c1fecf82b679a","ff19d65e9df00ce7b713ec1f0f2760a6d74ce99de6cc0d76469f96efb6bde071"],"recordQualifiers":{},"scopeLabel":"ORPHA:93299","sourceIds":["ORPHA:93299"],"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:0008701/OMIM:200600","MONDO:0008702/OMIM:200610","MONDO:0008703/OMIM:200700","MONDO:0010966/OMIM:600972"],"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":38,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":222,"sourceGroups":{"omim":59,"orphanet":118,"published":45}},"features":[{"hpoId":"HP:0003270","label":"Abdominal distention","primary":false},{"hpoId":"HP:0011849","label":"Abnormal bone ossification","primary":false},{"hpoId":"HP:0030680","label":"Abnormal cardiovascular system morphology","primary":false},{"hpoId":"HP:0003336","label":"Abnormal enchondral ossification","primary":false},{"hpoId":"HP:0006489","label":"Abnormal femoral metaphysis morphology","primary":false},{"hpoId":"HP:0010675","label":"Abnormal foot bone ossification","primary":false},{"hpoId":"HP:0001760","label":"Abnormal foot morphology","primary":false},{"hpoId":"HP:0010660","label":"Abnormal hand bone ossification","primary":false},{"hpoId":"HP:6000654","label":"Abnormal ischium ossification","primary":false},{"hpoId":"HP:0000772","label":"Abnormal rib morphology","primary":false},{"hpoId":"HP:0004327","label":"Abnormal vitreous humor morphology","primary":false},{"hpoId":"HP:0004348","label":"Abnormality of bone mineral density","primary":false},{"hpoId":"HP:0000478","label":"Abnormality of the eye","primary":false},{"hpoId":"HP:0001090","label":"Abnormally large globe","primary":false},{"hpoId":"HP:0010963","label":"Absence of stomach bubble on fetal sonography","primary":false},{"hpoId":"HP:0004599","label":"Absent or minimally ossified vertebral bodies","primary":false},{"hpoId":"HP:0004605","label":"Absent vertebral body mineralization","primary":false},{"hpoId":"HP:0003086","label":"Acromesomelia","primary":false},{"hpoId":"HP:0000463","label":"Anteverted nares","primary":false},{"hpoId":"HP:0100387","label":"Aplasia of the middle phalanges of the toes","primary":false},{"hpoId":"HP:0005914","label":"Aplasia/Hypoplasia involving the metacarpal bones","primary":false},{"hpoId":"HP:0001964","label":"Aplasia/Hypoplasia of metatarsal bones","primary":false},{"hpoId":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","primary":false},{"hpoId":"HP:0006498","label":"Aplasia/Hypoplasia of the patella","primary":false},{"hpoId":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","primary":false},{"hpoId":"HP:0001552","label":"Barrel-shaped chest","primary":false},{"hpoId":"HP:0001591","label":"Bell-shaped thorax","primary":false},{"hpoId":"HP:0006488","label":"Bowing of the arm","primary":false},{"hpoId":"HP:0002979","label":"Bowing of the legs","primary":false},{"hpoId":"HP:0006487","label":"Bowing of the long bones","primary":false},{"hpoId":"HP:0000248","label":"Brachycephaly","primary":false},{"hpoId":"HP:0001156","label":"Brachydactyly","primary":false},{"hpoId":"HP:0001623","label":"Breech presentation","primary":false},{"hpoId":"HP:0000916","label":"Broad clavicle","primary":false},{"hpoId":"HP:0005622","label":"Broad long bones","primary":false},{"hpoId":"HP:0006543","label":"Cardiorespiratory arrest","primary":false},{"hpoId":"HP:0000518","label":"Cataract","primary":false},{"hpoId":"HP:0000175","label":"Cleft palate","primary":false},{"hpoId":"HP:6000653","label":"Crescent-shaped iliac bone","primary":false},{"hpoId":"HP:0000476","label":"Cystic hygroma","primary":false},{"hpoId":"HP:0004331","label":"Decreased skull ossification","primary":false},{"hpoId":"HP:6000866","label":"Delayed distal femoral epiphyseal ossification","primary":false},{"hpoId":"HP:0008828","label":"Delayed proximal femoral epiphyseal ossification","primary":false},{"hpoId":"HP:0008788","label":"Delayed pubic bone ossification","primary":false},{"hpoId":"HP:6000867","label":"Delayed tibial epiphyseal ossification","primary":false},{"hpoId":"HP:0031096","label":"Delayed vertebral ossification","primary":false},{"hpoId":"HP:0005280","label":"Depressed nasal bridge","primary":false},{"hpoId":"HP:0003498","label":"Disproportionate short stature","primary":false},{"hpoId":"HP:0008873","label":"Disproportionate short-limb short stature","primary":false},{"hpoId":"HP:0003521","label":"Disproportionate short-trunk short stature","primary":false},{"hpoId":"HP:6000650","label":"Distal tibiofibular synostosis","primary":false},{"hpoId":"HP:0000969","label":"Edema","primary":false},{"hpoId":"HP:0100541","label":"Femoral hernia","primary":false},{"hpoId":"HP:0003038","label":"Fibular hypoplasia","primary":false},{"hpoId":"HP:6000921","label":"Fibular torsion","primary":false},{"hpoId":"HP:0000904","label":"Flaring of rib cage","primary":false},{"hpoId":"HP:0012368","label":"Flat face","primary":false},{"hpoId":"HP:0001371","label":"Flexion contracture","primary":false},{"hpoId":"HP:0002007","label":"Frontal bossing","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0000888","label":"Horizontal ribs","primary":false},{"hpoId":"HP:0001789","label":"Hydrops fetalis","primary":false},{"hpoId":"HP:0002984","label":"Hypoplasia of the radius","primary":false},{"hpoId":"HP:0003022","label":"Hypoplasia of the ulna","primary":false},{"hpoId":"HP:0000946","label":"Hypoplastic ilia","primary":false},{"hpoId":"HP:0002866","label":"Hypoplastic iliac wing","primary":false},{"hpoId":"HP:0003175","label":"Hypoplastic ischia","primary":false},{"hpoId":"HP:0005281","label":"Hypoplastic nasal bridge","primary":false},{"hpoId":"HP:0004590","label":"Hypoplastic sacrum","primary":false},{"hpoId":"HP:0000882","label":"Hypoplastic scapulae","primary":false},{"hpoId":"HP:0010880","label":"Increased nuchal translucency","primary":false},{"hpoId":"HP:0000023","label":"Inguinal hernia","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001387","label":"Joint stiffness","primary":false},{"hpoId":"HP:0001132","label":"Lens subluxation","primary":false},{"hpoId":"HP:0005716","label":"Lethal skeletal dysplasia","primary":false},{"hpoId":"HP:0000343","label":"Long philtrum","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0000256","label":"Macrocephaly","primary":false},{"hpoId":"HP:0000272","label":"Malar flattening","primary":false},{"hpoId":"HP:0000347","label":"Micrognathia","primary":false},{"hpoId":"HP:0002983","label":"Micromelia","primary":false},{"hpoId":"HP:0000308","label":"Microretrognathia","primary":false},{"hpoId":"HP:0011800","label":"Midface retrusion","primary":false},{"hpoId":"HP:0006640","label":"Multiple rib fractures","primary":false},{"hpoId":"HP:0000545","label":"Nearsightedness","primary":false},{"hpoId":"HP:0000774","label":"Narrow chest","primary":false},{"hpoId":"HP:0008921","label":"Neonatal short-limb short stature","primary":false},{"hpoId":"HP:0008081","label":"Pes valgus","primary":false},{"hpoId":"HP:0000201","label":"Pierre-Robin sequence","primary":false},{"hpoId":"HP:0001561","label":"Polyhydramnios","primary":false},{"hpoId":"HP:0001162","label":"Postaxial hand polydactyly","primary":false},{"hpoId":"HP:0010808","label":"Protruding tongue","primary":false},{"hpoId":"HP:0001538","label":"Protuberant abdomen","primary":false},{"hpoId":"HP:0002089","label":"Pulmonary hypoplasia","primary":false},{"hpoId":"HP:0002757","label":"Recurrent fractures","primary":false},{"hpoId":"HP:0002093","label":"Respiratory insufficiency","primary":false},{"hpoId":"HP:0000541","label":"Retinal detachment","primary":false},{"hpoId":"HP:0100242","label":"Sarcoma","primary":false},{"hpoId":"HP:0200083","label":"Severe limb shortening","primary":false},{"hpoId":"HP:0003510","label":"Severe short stature","primary":false},{"hpoId":"HP:0000894","label":"Short clavicles","primary":false},{"hpoId":"HP:0011927","label":"Short digit","primary":false},{"hpoId":"HP:0003097","label":"Short femur","primary":false},{"hpoId":"HP:0001773","label":"Short foot","primary":false},{"hpoId":"HP:0005792","label":"Short humerus","primary":false},{"hpoId":"HP:0003026","label":"Short long bone","primary":false},{"hpoId":"HP:0000470","label":"Short neck","primary":false},{"hpoId":"HP:0003196","label":"Short nose","primary":false},{"hpoId":"HP:0004279","label":"Short palm","primary":false},{"hpoId":"HP:0009803","label":"Short phalanx of finger","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:0005736","label":"Short tibia","primary":false},{"hpoId":"HP:0001831","label":"Short toe","primary":false},{"hpoId":"HP:0001248","label":"Short tubular bones of the hand","primary":false},{"hpoId":"HP:0002652","label":"Skeletal dysplasia","primary":false},{"hpoId":"HP:0005048","label":"Synostosis of carpal bones","primary":false},{"hpoId":"HP:0001762","label":"Talipes equinovarus","primary":false},{"hpoId":"HP:0008368","label":"Tarsal synostosis","primary":false},{"hpoId":"HP:0000474","label":"Thickened nuchal skin fold","primary":false},{"hpoId":"HP:6001052","label":"Tibiotalar synostosis","primary":false},{"hpoId":"HP:0000262","label":"Turricephaly","primary":false},{"hpoId":"HP:0001537","label":"Umbilical hernia","primary":false},{"hpoId":"HP:0030290","label":"Unossified sacrum","primary":false},{"hpoId":"HP:0004606","label":"Unossified vertebral bodies","primary":false},{"hpoId":"HP:0006228","label":"Valgus hand deformity","primary":false}],"ledeHtml":"Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by skeletal abnormalities that cause serious health problems. As a result, most infants with achondrogenesis die before birth or soon after, often due to respiratory failure.","mondoId":"MONDO:0019648","records":[{"frequencyKind":"range","key":"019cd649dbb914f261afdf56c52e84535a9c1a53452e01000e6bbfa6eb0f4817","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000463","is_excluded":false,"label":"Anteverted nares","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"01c8fd21b0f846a54ab2f4fb5fe8b6513875043a6bd30e877ef4425620503968","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0031096","is_excluded":false,"label":"Delayed vertebral ossification","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"01d00115d27b929db28a9b2e506481ccf99a2b2b944d5c412bdbbd720056a179","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001537","is_excluded":false,"label":"Umbilical hernia","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"0307963a9c5087f668615efef8f392639ce4f0382fee9d5c3f29de2e640c756c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0012368","is_excluded":false,"label":"Flat face","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"04a4809f51337dbb68ddc15becd40500ed49c724e91e85c19790ae46953411f4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008081","is_excluded":false,"label":"Pes valgus","onset_id":null,"reference":"OMIM:200700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"058d7bf37d57262b005e1c0097a93cf32a222cfc5a4dc2232643ef7fe137961c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000308","is_excluded":false,"label":"Microretrognathia","onset_id":null,"reference":"PMID:34573377","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"063001a1f50491df3c618062f2b923eaac6192874b2bf8f0d30ee17914e92674","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000463","is_excluded":false,"label":"Anteverted nares","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"07aa178bb724ae12ec4a88e5e92895f868d4d191d285262d352e8e152142e269","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000476","is_excluded":false,"label":"Cystic hygroma","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"07aad32da4e4acf916109187af124e8289a4fee7782cd79a423477898f6374b6","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001537","is_excluded":false,"label":"Umbilical hernia","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"09014e14e66df435d1e78e61d984c3b97a425559e0a4c1921455af3d46c81275","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000463","is_excluded":false,"label":"Anteverted nares","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0ac7f455839658a24506dc8fb4f2865c9db9723dd61ec01d30b64ca19af7cc70","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0010675","is_excluded":false,"label":"Abnormal foot bone ossification","onset_id":null,"reference":"OMIM:200600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0b128760f53eef9d175840bc23794225487ae41d5967aa45a0d90c0dcbee72b8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000773","is_excluded":false,"label":"Short ribs","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0bea21c40c2150b7df250f93c03cf26cf6cecf2594ee9f8d86c9b6fde6f8874a","raw":{"aspect":"P","body_system":"prenatal","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001789","is_excluded":false,"label":"Hydrops fetalis","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0d59fa379c3e68656244478af47b0a418cf458f7ef5b85c5dea598faecc2a3a4","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0df274082c3c5c90d61dc3a4a69705f8c545c16a01819800154bcbf1d4f6224b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000916","is_excluded":false,"label":"Broad clavicle","onset_id":null,"reference":"OMIM:200600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0e0b0650ed832885cb1cdd67ff5b7f144ebc04dc02896dcc2e6ebb1beef0ff11","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0ef7d10c4b6b6205a31d60d1c9fed6550aa2dfd440a20989d71a54e9ffea7c5c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000470","is_excluded":false,"label":"Short neck","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0f75a065d01e7943a6a70f4d722f1b1eede28726a0c3d1f55df0a68f2a32c132","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000882","is_excluded":false,"label":"Hypoplastic scapulae","onset_id":null,"reference":"OMIM:200600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1101b77e12d3279735f28fb05f9d8a1a021cef07f764d8f2ec3ed4c8d028cf47","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0030680","is_excluded":false,"label":"Abnormal cardiovascular system morphology","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1125a7d09488cbc477f0ef07586dfc81b879a8dd1af80f23ca43be1da7f9fb69","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003521","is_excluded":false,"label":"Disproportionate short-trunk short stature","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"152943cefd8edc7240c48a473d807ebfc6987821738bf7522bd277c4764a682f","raw":{"aspect":"P","body_system":"prenatal","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001561","is_excluded":false,"label":"Polyhydramnios","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"16e713a7988e19c5983e3a6bfdd17424b6e4d795f1de1f5282c19f77c4deae23","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001773","is_excluded":false,"label":"Short foot","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1fd6951aa6c467ccaaa46172dce620a61cebb462232e89808eb5d8bec88c2146","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003196","is_excluded":false,"label":"Short nose","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"216452a4c80727e72d9174f95ed9bcbe64bd87e42b9ccb4811a3c9b52552a825","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0009601","is_excluded":false,"label":"Aplasia/Hypoplasia of the thumb","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"22c456ff1370c4369f4de13581e80a76003b8535bc665e5cc6aa5fb71121b04c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003521","is_excluded":false,"label":"Disproportionate short-trunk short stature","onset_id":null,"reference":"OMIM:200610","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2487e84114690b30dae7dd181ad82c713c7d4ab73bf065424c04b40a9b007512","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000248","is_excluded":false,"label":"Brachycephaly","onset_id":null,"reference":"PMID:34573377","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"252695b76edd898fae34c5b1e816f7b08692c05fbaa378d7ec41a1dc45f1b55e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000262","is_excluded":false,"label":"Turricephaly","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2542b948084bc8587dabb448fecc1d4e196d101b8beb17bd3434a00a48353f5e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000904","is_excluded":false,"label":"Flaring of rib cage","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"25ea4e5b476fbeca89a67c3ae0c788ff341ff741815639d573bc0d685c766146","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000474","is_excluded":false,"label":"Thickened nuchal skin fold","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"27a6a42da475bf9696a474a9715b9c6557b539eb37297b95467e58d124171876","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000343","is_excluded":false,"label":"Long philtrum","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2b61e0fe910fa4ac804c3c0fba723ae102b7a3dff9ab1b52e905af8540738c11","raw":{"aspect":"P","body_system":"prenatal","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001789","is_excluded":false,"label":"Hydrops fetalis","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2d2d6af207e1cc7fd4bbbb21f1d0fab7aaeacd224cfd39fa302b6a632795b108","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003038","is_excluded":false,"label":"Fibular hypoplasia","onset_id":null,"reference":"OMIM:200700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2ffce3460432b07c5809f26a249a506471272ad028c7e4c68d097bc1b1c8bf8a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002983","is_excluded":false,"label":"Micromelia","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"306ba004b6d5e0d799325515bc43aebca1f3d1b61904d6dcc3d10126be829bf1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005736","is_excluded":false,"label":"Short tibia","onset_id":null,"reference":"OMIM:200700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"3193fb82b7812ebad8cb773d2a27fbb115dfb48d7496747a8217077b63b11329","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001371","is_excluded":false,"label":"Flexion contracture","onset_id":null,"reference":"OMIM:200700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"32b4c5b60889d330d4562e5f01f7bcb035856c3442efe4dd8ea134dcb7c3605c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008788","is_excluded":false,"label":"Delayed pubic bone ossification","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"333e643652cde6673530e4e970a1c6327c5d5b2fa9a204506eed3832a1bc16a3","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"36aecec7f5579e6a378dd9685a95a7efcc75aa05f4149150fdfabd238e1ad000","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003270","is_excluded":false,"label":"Abdominal distention","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"36cdf695d1cad234175a5a08b3c3825bd8712db3a9162cb7871e70801198717c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000343","is_excluded":false,"label":"Long philtrum","onset_id":null,"reference":"PMID:34573377","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"373174dbafd8b856506889cac4c7448185206ee9199f23dcec39d5d13bbe31c3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010306","is_excluded":false,"label":"Short thorax","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"37652d1d2759d479d691247221aaadc97a5e3c76f7910a41fa9ee05f10769ba7","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"37ceefe1d559beffea7831ecb712b5d541c153e7d61962fc3cf9a8a5f140c823","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000541","is_excluded":false,"label":"Retinal detachment","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3ba68cdd19192d4291ed84717e154e8d1fe50b4f06afd31a9d5de63dde7b905f","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001537","is_excluded":false,"label":"Umbilical hernia","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3caffc5b5ec5a2b6504a1935831dac608b67682e6a95ae16f12b80a10936d197","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012368","is_excluded":false,"label":"Flat face","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3d148c825a298ea1cc970cc6c3bfe650eaa8ab37e8dc4c7cdf2bcb36e18020a9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"40a5074dd3d244b2512711e3500e2693d6978df38847fa9e129a620d01fe5f6c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000773","is_excluded":false,"label":"Short ribs","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"41757272e1a3142a83d73ff65f8fae7ac5da85fe82397817f6a49b680bd8b3cd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000774","is_excluded":false,"label":"Narrow chest","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"42151c920496652d467f994e5f41c24050225cf1597450eff5cc928ca4f43186","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003196","is_excluded":false,"label":"Short nose","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"425ac2643eac2b05e095fd1463a8395d2c8101bfbaf42d2a1a84d9b374cf5840","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001387","is_excluded":false,"label":"Joint stiffness","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"44b3d1a384cc526802991529e71526f2101d51b9b08492f8392689998c00f0ef","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000470","is_excluded":false,"label":"Short neck","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"44f6a5b442b60ed3eae40be648c58b3692d24b2d2abf99b02f94a1468f11c88d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0004348","is_excluded":false,"label":"Abnormality of bone mineral density","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"45a8c3aad00377ca71400d1cb42827409c959eec78d1c93b2082542e16a4d1aa","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005716","is_excluded":false,"label":"Lethal skeletal dysplasia","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"45da9bef91437e5a2720356bb2161e9ff184692388851212bbf0dd85780c4fbd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003336","is_excluded":false,"label":"Abnormal enchondral ossification","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"45f4ba714f1dc77f56b83b3a4482d04c0bfd94edcac5e6bd264ca47fbd940932","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000476","is_excluded":false,"label":"Cystic hygroma","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"465bab5551e5548d97a65095c2317f09d06dd08cea2f65fe248025ef08624de6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005716","is_excluded":false,"label":"Lethal skeletal dysplasia","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4e5a9ee116e63ce6a702b5c423996a73cfce1e205903e9cccbbe849be2516f07","raw":{"aspect":"P","body_system":"prenatal","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001789","is_excluded":false,"label":"Hydrops fetalis","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4f08fd5da9530733eeb7d5ba1cb8163ca11f4698b3b1f1b57227c948f5653311","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001760","is_excluded":false,"label":"Abnormal foot morphology","onset_id":null,"reference":"OMIM:200610","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4f7316364a23d4debfa4ee55a2fd28cb75e557895e07e74319d02392e12802fe","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001552","is_excluded":false,"label":"Barrel-shaped chest","onset_id":null,"reference":"OMIM:200600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5050bb88a97a1cd653ee337102dcb94f808fb125b38d690eaf2080cfb1f6d311","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0006640","is_excluded":false,"label":"Multiple rib fractures","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5210a4fb5b93839292e0793fb03f3f5fd9cbf20b14c1da859d4e1fb6015b82fc","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005048","is_excluded":false,"label":"Synostosis of carpal bones","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"52704d42d2701181ce7a749d51c507a45d16bcb44f74c429d0664f55451a9886","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0006703","is_excluded":false,"label":"Aplasia/Hypoplasia of the lungs","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"528240c360a70a2ce8571a6ba1a4d1ce2d7c9cd19fec0baa815f60386844d892","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000474","is_excluded":false,"label":"Thickened nuchal skin fold","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"53a5e81e7979af9cb352e38b7599ed58a846843f347e0c0cf891bb89b846c8f7","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100541","is_excluded":false,"label":"Femoral hernia","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"581a2aa289be5a39c2cbe28d910dc52fec43fb9fc5460f02ae9faba7d6a3cce7","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"58fd5b5af22db3b08abf94187c4676552a7b2328be817920e888d60afc91819e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004605","is_excluded":false,"label":"Absent vertebral body mineralization","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"59a54e7411e4ad8a0bfed719e2dcbc2440b5690454ead102f223f52c1bfb2397","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0006489","is_excluded":false,"label":"Abnormal femoral metaphysis morphology","onset_id":null,"reference":"OMIM:200600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5a31624e66abfb47be1154fc5c505bb74487bae0f9375e21c5335659427b1829","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000201","is_excluded":false,"label":"Pierre-Robin sequence","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"5aa9289ea9ee790a5938bbcce8efd1ade20a86844ae5dc054b0c7b9072d5e55b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0010880","is_excluded":false,"label":"Increased nuchal translucency","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5b3c8076e9014aa7cefcbfa6435c74a921b449f2465f537f20b360546e873a79","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0030290","is_excluded":false,"label":"Unossified sacrum","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5c1afab6a010cdc3138a789f17ceb7366dd543943a9f689ce6c0506e39caea5d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0003175","is_excluded":false,"label":"Hypoplastic ischia","onset_id":null,"reference":"OMIM:200600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5d98fd992cc15e649ecef8842e8d7f421b43fc27bfcdbdd0766b9d88efde783f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001248","is_excluded":false,"label":"Short tubular bones of the hand","onset_id":null,"reference":"OMIM:200610","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5d9c5fa83b0fb507c60fe2cf791885b5b3bbd0efccd2dbb791530c0c8f59a6d3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003022","is_excluded":false,"label":"Hypoplasia of the ulna","onset_id":null,"reference":"OMIM:200700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5dc0c97704cbffb5bcd6b7d78ea32a4802c608e56b842565cdc77065fe20942e","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001789","is_excluded":false,"label":"Hydrops fetalis","onset_id":null,"reference":"OMIM:200600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5f8c491e46c020efc40df1416a292f52300cd722a9e458e53d8a4555d8c6d5f4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000476","is_excluded":false,"label":"Cystic hygroma","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"603037a1e82dc1cf5c5009ae7dff31399a2c1e84e76ffcbea4741ea30499c521","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002983","is_excluded":false,"label":"Micromelia","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"61e5d2d6cc89442029db50afeeb0cc81298aed30761b34b8207357c76698540b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0005622","is_excluded":false,"label":"Broad long bones","onset_id":null,"reference":"OMIM:200610","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"626c8bb671071c8de26410a521956755e2d927209a6303e3b48b79580cb1b4fc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"PMID:34573377","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"63436c479fa742dc3fb4316c1abfab03b925854b0af04d4550a4568e38e4e8ab","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000774","is_excluded":false,"label":"Narrow chest","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"657704229ca05e7fa2e65e7ee1e607787b6ac7fa13c2e6a4a570b91df9d50cd1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004279","is_excluded":false,"label":"Short palm","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"65cc5d8b094cdfc870810cbda0dd909ed4c9a658caa7b5c8305a00d9a0df675d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000256","is_excluded":false,"label":"Macrocephaly","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"663f5d81d778264f3280d43f4faf7d7488daf1ee2a8856aa6b849f22755e9b13","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000023","is_excluded":false,"label":"Inguinal hernia","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"66b5375b5588494e0e6854e002cbd8b9f59dbe2ce9d23d43517bbf8c253509ad","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001591","is_excluded":false,"label":"Bell-shaped thorax","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"672d2015039e6a27d28fc827d16f0c84691182639f958271b4014117f5951afb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003336","is_excluded":false,"label":"Abnormal enchondral ossification","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6b11f8bb78455ee4a6603b4bbdbd8e7ddaabf0ea26d6f7ba36001ae0b870a42e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001552","is_excluded":false,"label":"Barrel-shaped chest","onset_id":null,"reference":"OMIM:200610","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"6b38b39881a721e2d5556a29c98deef7a5519c40f401498d88615fcbc196e0a3","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000463","is_excluded":false,"label":"Anteverted nares","onset_id":null,"reference":"OMIM:200600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"6beef231e92f1d55355d7b3d63351f0160ae8ccf47e7a45d02fc2665b5842b9b","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001132","is_excluded":false,"label":"Lens subluxation","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6c198c08f6caa7bd6e727e796dc235c670af4a2a725c4f3cc804c6ea7c40c196","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000888","is_excluded":false,"label":"Horizontal ribs","onset_id":null,"reference":"OMIM:200610","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"6cceeb442952e47c56c6390d6a8e9cd890551908f0df89e298d9a53bb09a38e9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000774","is_excluded":false,"label":"Narrow chest","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6f11280575b5a83235aef6aba7a8b2451656de83a6f20bbdcc912c7091e254d2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000470","is_excluded":false,"label":"Short neck","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6f5041095a7034b21a14e8e3d8e87e1dd03d85cc89b14354d0dbf996e2b737aa","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000256","is_excluded":false,"label":"Macrocephaly","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6f65b6546819ff7d46c1e58ced71e75fe6b2d1ed3b61a15260bb59eaa2fa27a6","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001561","is_excluded":false,"label":"Polyhydramnios","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"6f670278bf4a34676645a4cf0a19c26d751b5f347d91f99f9561a846bead83cb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:6000867","is_excluded":false,"label":"Delayed tibial epiphyseal ossification","onset_id":null,"reference":"PMID:24144387","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6f9d51ac77879f423b95a6ca55b2d47254d637a068dc87ed9f040f71bf532d9e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001162","is_excluded":false,"label":"Postaxial hand polydactyly","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"71df33ef94e9fe794b1aadc95b83d239e59cdd1488d30804e828a2a9f0adc362","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:6000653","is_excluded":false,"label":"Crescent-shaped iliac bone","onset_id":null,"reference":"PMID:28744080","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"721c9204be0eb04e2e89b484022cbe2117649db6d2367e0fd3237f7c07aa177e","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100541","is_excluded":false,"label":"Femoral hernia","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7511f63d2c9eed696517d9f1d3343db30cbe868bc1a742d88563de23ea3b3186","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011849","is_excluded":false,"label":"Abnormal bone ossification","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"751212464f6767dcdcba716f02dd230aecb1d59d162e5fddbab3ad392979413f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002652","is_excluded":false,"label":"Skeletal dysplasia","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"796c8075fd086bb1847c7907ce450917113a95b8ea10ec84b4dfee114d922e81","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000946","is_excluded":false,"label":"Hypoplastic ilia","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7c321cd73a57c374cbb9cc9ed8e317d2ff2297a255abd4419f8cb99a046fd574","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012368","is_excluded":false,"label":"Flat face","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7d07d9f6ac96a1fbcd4f4636bdb0d7656378cc784118f2a0a58d6c88cbcd0999","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003510","is_excluded":false,"label":"Severe short stature","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7e6c262fd712dd5d8a82f685d6abf8bcd9622fe67e3e48424daff6f633d9834f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:6000653","is_excluded":false,"label":"Crescent-shaped iliac bone","onset_id":null,"reference":"PMID:28744080","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7e76cc79e8fd5324486cdd6c942da2ad29343232df7f14dc24c221e2a20359d5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003026","is_excluded":false,"label":"Short long bone","onset_id":null,"reference":"PMID:34573377","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"7e7a37f174984017b266a8804b8de14eb0850c68629b3dbc6c71ac5173a5b171","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006228","is_excluded":false,"label":"Valgus hand deformity","onset_id":null,"reference":"OMIM:200700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7f04d041049fdeb6864b4c9ad163c349cd3a685e5bd53b30fbc8d538e8b0c772","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7ff7a31f7570b792d23fed5d7fe712b4f4111b2e0d4756d4ddcdce65297aded1","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002089","is_excluded":false,"label":"Pulmonary hypoplasia","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8102802bfa2cf074c905ee1770fc626d4193cc181d5051bc334ce4ebd5c72693","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008873","is_excluded":false,"label":"Disproportionate short-limb short stature","onset_id":null,"reference":"OMIM:200610","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"86fc4ce87a206e5b75ae29a0282a50c3da875a46074757bc966c96b92f5153df","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005914","is_excluded":false,"label":"Aplasia/Hypoplasia involving the metacarpal bones","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"89637753d8a28d3ce630c0af5c680aac05a20b374e9222d51e4525f3b06e2194","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8967e9c1d89878ae375e6e18bae53893f9f2ab8fb172c682ab69efb30a07ca82","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000023","is_excluded":false,"label":"Inguinal hernia","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8a5d6cbeab6ef920a7b46c2d83cf05e447031ef9ef381e73b1ab2a02ec2766da","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100387","is_excluded":false,"label":"Aplasia of the middle phalanges of the toes","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8b986a1db6cfd3d1c91f9058cb84de7dceaa9a1bca61b18c7a9fa49aec4ef6b5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001773","is_excluded":false,"label":"Short foot","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8b9ba9cf6d068baa47707398d637dac797e4b8c505f1ef4648019b9f4f2b9ad4","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001537","is_excluded":false,"label":"Umbilical hernia","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8ca97fd226ee6c1969e196f72b75392795152e79add5c8ca28a0cbb61aef29a6","raw":{"aspect":"P","body_system":"prenatal","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001561","is_excluded":false,"label":"Polyhydramnios","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8ccc69cf9f9718bb9e147eaa587be9d12df9a944880236a2638673146255cbbd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:6000866","is_excluded":false,"label":"Delayed distal femoral epiphyseal ossification","onset_id":null,"reference":"PMID:24144387","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8ccd4806b01b40fb5e70f624ec24c432926a9c4e94777d98e0fffc517a0f899a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003196","is_excluded":false,"label":"Short nose","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8cddc2702ef88bd4f535aee5486dffa0c80d1cbc2c453d3a9be9e91cd1f4067f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001762","is_excluded":false,"label":"Talipes equinovarus","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8d1a45ce77546bb70a2e3c75f626b0d0ff74fd02574fac830f8b321991329b7c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000256","is_excluded":false,"label":"Macrocephaly","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8d703d2445978d38d682fac0b82116ad39dc20f64506bbef99d4c8d6907b1186","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006498","is_excluded":false,"label":"Aplasia/Hypoplasia of the patella","onset_id":null,"reference":"OMIM:200700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8e9534181e0db60606302284e71965110a44422f31b442c15005c875c027ac0a","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001789","is_excluded":false,"label":"Hydrops fetalis","onset_id":null,"reference":"OMIM:200610","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8ee0657727f46212016a4b9ad69b5431ad044cb272902fbc099b5acc3b5b1044","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001538","is_excluded":false,"label":"Protuberant abdomen","onset_id":null,"reference":"PMID:34573377","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8fb6bc5a07482724f8f4f4dba9b13ffae52848ee8951a302d981b1da8ca8d0bd","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001538","is_excluded":false,"label":"Protuberant abdomen","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"904e31912c25b121c0a16af19a7e1c2d2bfa95e9aea147085a54dd70c3fed1cc","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001156","is_excluded":false,"label":"Brachydactyly","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9112a5a81273635ec3d34fb539ed8fc97d0e1ddfe71e3f6fc158c4199f86c051","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002983","is_excluded":false,"label":"Micromelia","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"911b261e3cb8bd13024dbebb5e16dd60134852f9df90984e01370afc257f9a37","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001773","is_excluded":false,"label":"Short foot","onset_id":null,"reference":"OMIM:200700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"91b4573a8bebefe0ae6d8bbfb49b9a4221b74b8e01dc08b9f9de8b364d89550c","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001561","is_excluded":false,"label":"Polyhydramnios","onset_id":null,"reference":"OMIM:200610","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"92b3353049d3b4488e88d91e40baf1b0119affa6bf89e2086726116727c0445a","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0006703","is_excluded":false,"label":"Aplasia/Hypoplasia of the lungs","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"942cac5ce64391c8151489a8054401392cfb79716e2d77b220b94e73fe9e1e4d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000343","is_excluded":false,"label":"Long philtrum","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"94a9bfa8e05584cfad86f71b5215997c222f4eb3410a1855bbf24f973052f82a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000946","is_excluded":false,"label":"Hypoplastic ilia","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"971f72a2a4154a40c100f0760b167bbca3e54a49e8875f9408df83ffcbfbc7d2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000272","is_excluded":false,"label":"Malar flattening","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"974a25fe889a5c9319f65715834ed594e048d267a098224e66285b5c3f586015","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008828","is_excluded":false,"label":"Delayed proximal femoral epiphyseal ossification","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"99dffe5570babdca3b4cd37d6072dcc68c20d6ace634c34f1a31821b28eaf3c1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003026","is_excluded":false,"label":"Short long bone","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9a8f3efeeca7cee2c5603137c3aad0c23971d06ae6fa5491cf1b65134d6d9939","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:6001052","is_excluded":false,"label":"Tibiotalar synostosis","onset_id":null,"reference":"PMID:27577507","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9b0ce8131ba12b00372bb58a1ecbe5b764a72b03142437c95a92fa4ee6b6bb2a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002979","is_excluded":false,"label":"Bowing of the legs","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9b115c74dc6ecec5c9c954d6ea70607a06d132f0c3f48ce4429824cec8a7101f","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001623","is_excluded":false,"label":"Breech presentation","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"9b9e3d3a4852546b08ae4a9b592b8edb1e7fbc893c63a1ed5831aa1a74f68546","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008921","is_excluded":false,"label":"Neonatal short-limb short stature","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9bb974b937fa7f57c5f3b020045ff391e2211ed60aa0d12f01f7785fd4faf5d2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0006487","is_excluded":false,"label":"Bowing of the long bones","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9bd4116654591fee9005a017ad4d820b789706362915334a909d388f44c4819f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004590","is_excluded":false,"label":"Hypoplastic sacrum","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9bfe3a91d09a439828762ba15625145aab8b3fd565653ffab2a33d7f29b58212","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0006488","is_excluded":false,"label":"Bowing of the arm","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"9da7d4b1d8f4bcf486e2cf7d3494ca8e9f4ef465b4e341662b901d892984deea","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000545","is_excluded":false,"label":"Myopia","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9f4a4cd39a977738dac06596f88bbed4c8a79e5360a0294b8ea78867ccc26e26","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002089","is_excluded":false,"label":"Pulmonary hypoplasia","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9fe171dca427071fcab8a3998bc2abbc8a499bcf7a9a561446d4db6494bc46b0","raw":{"aspect":"P","body_system":"prenatal","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001561","is_excluded":false,"label":"Polyhydramnios","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9fe32c9ccfe6b04ff0f1e29221776ec88d80d6bbd902a7f88f778656eedd73b7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002983","is_excluded":false,"label":"Micromelia","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a1116fda52f81c7b3b5012c2911a21d03f12b7f23fa1ac533e938ca2978a6f30","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000470","is_excluded":false,"label":"Short neck","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a1b667e75111ce688bed7f52e4236334a323562cc1789ae99019f27987e4baaa","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002866","is_excluded":false,"label":"Hypoplastic iliac wing","onset_id":null,"reference":"OMIM:200610","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a35f86c231f47511b888a02ec83fcc74884be181906d844643d8a4e8ef5ffc3f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005736","is_excluded":false,"label":"Short tibia","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a3dd1c2c04e0b4273d6df0551808502ba87e0e825a404d0bfb610f4d2c162cdc","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0030680","is_excluded":false,"label":"Abnormal cardiovascular system morphology","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a4d82e4a1c505e034a5de659076f8cffa9d01133eab32cf7ee483588c1b74196","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010306","is_excluded":false,"label":"Short thorax","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a72b516bb20525a541d416ea041f8f526eaeaa852b2411d2be83a5fdb45f4610","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001762","is_excluded":false,"label":"Talipes equinovarus","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a8ada249e63659c586fdfc99ebc248ce3177cc218668f6de212786a5e8f17d0f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000894","is_excluded":false,"label":"Short clavicles","onset_id":null,"reference":"OMIM:200600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ab27bdc0bedb2bb5c2bc671a34e12b0cb2f4ba16da8189f27ed701e9188c3b32","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005914","is_excluded":false,"label":"Aplasia/Hypoplasia involving the metacarpal bones","onset_id":null,"reference":"OMIM:200700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"adb5b17b49b29173b80e0f17afebb81eed2a6fd36887a0dd9417f7b3a4ff6c2f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005792","is_excluded":false,"label":"Short humerus","onset_id":null,"reference":"OMIM:200700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ae82f86aaf0f9580c37e56b2cc6954a99040b82a2d30f870a238fd2fff2dddc7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0200083","is_excluded":false,"label":"Severe limb shortening","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b0d5a65733a7afef68a4503850392586baff31755422a623eb5886571ec39ec6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003336","is_excluded":false,"label":"Abnormal enchondral ossification","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b1e2e050d28369028d7db287dc1082f99e3f522d5e9e3c84e0ca241503fb4bed","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0010306","is_excluded":false,"label":"Short thorax","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"b408083763a446f4ecfd2447407ffb912ff560837a27d82b77275def4673ef55","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002984","is_excluded":false,"label":"Hypoplasia of the radius","onset_id":null,"reference":"OMIM:200700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b437b04b8a735e411bdaf2984e4a959fbeda1ab91b8c07ebc11b529fba8a7934","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002652","is_excluded":false,"label":"Skeletal dysplasia","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b473a3555a5e7ac3b49de5900617d9f94a9cbb123d44ed7a2e6445fb7adcbde7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004605","is_excluded":false,"label":"Absent vertebral body mineralization","onset_id":null,"reference":"OMIM:200610","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b55f1e79e8232adade27d41b80fdea57f75ef47d662f2a4d049fae2d920769ed","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008873","is_excluded":false,"label":"Disproportionate short-limb short stature","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b6af0a36f0499fa6f19fb3807e8b8138b1667ae402ce11bd8729f0457ef17205","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003038","is_excluded":false,"label":"Fibular hypoplasia","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b735ee6dfa14cd04e692739eaf1962f6c38b62ed88af1a4fa6102b8291af0ef2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004331","is_excluded":false,"label":"Decreased skull ossification","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"bb4683e4714d6bd06d7c1de850a370858d933248e1956d67ed5e35fe6d4c84b5","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001561","is_excluded":false,"label":"Polyhydramnios","onset_id":null,"reference":"OMIM:200600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"bbc851aeb894d6b7f576e0e22b574dd67eb77588f34a3daee573759f65555087","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"PCS","frequency_raw":"5/8","hpo_id":"HP:0001162","is_excluded":false,"label":"Postaxial hand polydactyly","onset_id":null,"reference":"PMID:9288098","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"bc09cb31839b27fdb48e73888d5d536281e54e30bc843aef2664aaa829032872","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:6000650","is_excluded":false,"label":"Distal tibiofibular synostosis","onset_id":null,"reference":"PMID:27326275","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"bc2ba31dad5f66e16e939f38611f53efeaa47b3fde014030b2a8d273d71aca16","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000773","is_excluded":false,"label":"Short ribs","onset_id":null,"reference":"OMIM:200610","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"bc31e5249908cf9c0d3e1ac18a6b435dbcf4fca2baea58886da4f12ef15b7a4e","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003498","is_excluded":false,"label":"Disproportionate short stature","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bcafe800fe72709fad6ad8a3a8353dbfd10821724a428f3f0eab44c0248f2a10","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002983","is_excluded":false,"label":"Micromelia","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"be84c06ffde1e28bfa85f5b51b82de5d19eabe7fcafe158d1c16399355a30d5a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000774","is_excluded":false,"label":"Narrow chest","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"becda9af16c8bdd067c83b65803455ee06ed1fdd5a4cf7d4897430fa8dea38a4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003097","is_excluded":false,"label":"Short femur","onset_id":null,"reference":"OMIM:200700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"bf706464e56d469663e4896dee1da3b74a8e9cf8d99a6a970280d954ecf4dc0b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bf7d75bc68a75a1adc394243abda4ad3356110ae710dcc8463449c89b3720574","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"OMIM:200610","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"bfa63c0860a2e973bc879d1acf2fa6ad973126fb3ad2429013390f5fcca6c4b0","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000969","is_excluded":false,"label":"Edema","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c18a5548e468b26b840d2de35a43d9787d29fa28fdb9b77e1352eb1d7dc954c8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002757","is_excluded":false,"label":"Recurrent fractures","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c3543b9c33417d2c7d5c5c90e5773f806c4a35792de2098e445e91d629ff3309","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000774","is_excluded":false,"label":"Narrow chest","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c3fe2a8a64761871ab3445f72e1ba0bc66c97920f477853af64dfbf8f67c049a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000772","is_excluded":false,"label":"Abnormal rib morphology","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c601b80031f338a96ac9088356cdd59ba83b91785a14744d21433e038bdda5ff","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000476","is_excluded":false,"label":"Cystic hygroma","onset_id":null,"reference":"OMIM:200610","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c9e61d813f8e9bc924e67eb628551bc79319e8504010cc46f0fb5ce54ac05d00","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002983","is_excluded":false,"label":"Micromelia","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ca896b921702da1ba4b4ca05307bcaaad2d81999c0509d96aeb5fbf71ece174d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002652","is_excluded":false,"label":"Skeletal dysplasia","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"cbf14d659e206aca54d1256cb08ea1376082e9730fbce7bbb3fb0abf1eb35bfc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003196","is_excluded":false,"label":"Short nose","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ccaaf58eca5ca20ce8cbfefc2dc662e6be96d9f140fb9f414017a52bd14c8001","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010306","is_excluded":false,"label":"Short thorax","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"cd8e0906c0671759a8a0854a72e385f8fa1c16322705c5d4f83cd651ba776889","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:6000654","is_excluded":false,"label":"Abnormal ischium ossification","onset_id":"HP:0034198","reference":"PMID:23956106","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"cf2db1df0979dc30ae65190ddc34d18c7e75a4475dddae5554933f57f6120377","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002984","is_excluded":false,"label":"Hypoplasia of the radius","onset_id":null,"reference":"OMIM:200600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"cf55393da05c36a5c88221c15ce6cb915d849848abea62a5a2e08d1fe87ccf76","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100242","is_excluded":false,"label":"Sarcoma","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d1332481607b22b6675aac9fe9bd59d5245bfdc3acef92f6ac1d6e3b803e7f42","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002093","is_excluded":false,"label":"Respiratory insufficiency","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d54cefdc6c7363a6662e86323ea6704506c7539192d5b8f22828b7bfd06c3e84","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0010660","is_excluded":false,"label":"Abnormal hand bone ossification","onset_id":null,"reference":"OMIM:200600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d6002c15b75b2f0045b8632141d586cff6340c1941f57bd2371a9f162289bb7d","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0030680","is_excluded":false,"label":"Abnormal cardiovascular system morphology","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d6932f43fdaf0789aacdb77caaed02d9af0dfd6555d8dfc7fccf28e3d8602fa4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d86c4b6defdb96cfd79106eb2cd441c1a5ec46c71809b4086da2b4fe5e648428","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008368","is_excluded":false,"label":"Tarsal synostosis","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d8cc8e4bfdd666cb06e2f8a4816ac8dbb6f7f8ccd6a7ccf688c4f88f04b10ba6","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0008873","is_excluded":false,"label":"Disproportionate short-limb short stature","onset_id":null,"reference":"PMID:9288098","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"db9700d836ec42c155c1cc1abc75359b0f197e20c6d90551f3421fb7df567fc9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009803","is_excluded":false,"label":"Short phalanx of finger","onset_id":null,"reference":"OMIM:200700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"dca169f78dc4ece4c0e7d214f85468d846a10ee97d0d93d522793429ba9eaf11","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000343","is_excluded":false,"label":"Long philtrum","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dcbada0ea663f6d3028f7e8a0a378a6349f0a029a6a8a6db1c68bcc601be1727","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000969","is_excluded":false,"label":"Edema","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ddc58d835897e8c856179a0cea5721abfbc436f6336d422178fd00a27ced4ec5","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001090","is_excluded":false,"label":"Abnormally large globe","onset_id":null,"reference":"PMID:34573377","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"de54277bf7d06636a946b8534959a9cbb3e40b701d8b55b1bbf2802178f90bd7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011927","is_excluded":false,"label":"Short digit","onset_id":null,"reference":"OMIM:200700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"df636801b3ab63bf71e00d5b48a29afbbaf6c4f6318bb389f67ef103d00f9df8","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003510","is_excluded":false,"label":"Severe short stature","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"dfbf63394380a8d954f9ea37eff0d063538cf12b6e3a0bc4a3643370640f4ac9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005281","is_excluded":false,"label":"Hypoplastic nasal bridge","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e2decb4a7b92dec36ce1d15b2e1ac230968a1ec3f5c22da317f291114d31937a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011800","is_excluded":false,"label":"Midface retrusion","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e69691f5343f9eaddeab2a548a0469d1c992808ad7d14b2e090d1deda3b6b1f9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012368","is_excluded":false,"label":"Flat face","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e8a5d587b171d22b7f3e577ba13a61ed6159f66d40e92ab0fa15419ac53d2dbd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002983","is_excluded":false,"label":"Micromelia","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ea65f298ccf50736d614c3e8f05a4acbe4bf3eb8d9acedb04aeb48ce8bdd5387","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2098","disease_name":"Acromesomelic dysplasia, Grebe type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001831","is_excluded":false,"label":"Short toe","onset_id":null,"reference":"ORPHA:2098","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"eb267f3bc061398e9c305309a491fdf430ddd13dec30a8f21b6fb9bd32eaa545","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93298","disease_name":"Achondrogenesis type 1B","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000474","is_excluded":false,"label":"Thickened nuchal skin fold","onset_id":null,"reference":"ORPHA:93298","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ec5a4ba8ce0b2aff2e212d2be76601700714c93bd4b41c8e5af1df7da91b6a7d","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:200610","disease_name":"Achondrogenesis, type II","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000969","is_excluded":false,"label":"Edema","onset_id":null,"reference":"OMIM:200610","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"edf913317c432f4124aa28748fe6ce37d4ae533adb870332a81d4d53933f471b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000773","is_excluded":false,"label":"Short ribs","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ee052efacbe2d2652db3c1e301cd0226407013c1fa9140140d3cb6b8c482312b","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006543","is_excluded":false,"label":"Cardiorespiratory arrest","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ee12e38f38da86e7aa6776276901062c5f8c05da039e5082fcd6e0478bb3a41e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003086","is_excluded":false,"label":"Acromesomelia","onset_id":null,"reference":"PMID:26870132","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"eed9dcec1b3e757954e2ca642ca5a1770588d631e3b405e7802e687032df92c8","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003270","is_excluded":false,"label":"Abdominal distention","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f058f82ee62a9323cfff90b790f6ea964ec2c25667d070e1704d42b6c39445e7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0010808","is_excluded":false,"label":"Protruding tongue","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f078e4445e544ec5e60f3c8a7d5d75077fd76d3e79a92a96fdbd0ece8d533384","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004327","is_excluded":false,"label":"Abnormal vitreous humor morphology","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f0ea9ff3194e01fe56217df114de69aa1011f01f12cb0d35f85b1d6e8c71a6c8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0001249","is_excluded":true,"label":"Intellectual disability","onset_id":null,"reference":"PMID:26870132","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f142e217c0de549e2a96251d6f167fcab08014a5f339f3d7099a3f3cbd9770cf","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:93296","disease_name":"Achondrogenesis type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000478","is_excluded":false,"label":"Abnormality of the eye","onset_id":null,"reference":"ORPHA:93296","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f16398764ab2f2fe2a44c4c6121a0ab3a76f6ef67b0e661361751e754a22e687","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0010963","is_excluded":false,"label":"Absence of stomach bubble on fetal sonography","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f2c2541156953eade670dcbd37aeec6944c416ad640dbd39b04f849594d768f1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004599","is_excluded":false,"label":"Absent or minimally ossified vertebral bodies","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f48250dddd18642cefd589de5858c1cc5dee341c1052806ba049353fa7f255e7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:6000921","is_excluded":false,"label":"Fibular torsion","onset_id":null,"reference":"PMID:27577507","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f4cd059d9156d4ef9048451302f4cac1a3634da6713c97e85f6612824e107437","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000774","is_excluded":false,"label":"Narrow chest","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f9cadf8da4ced61bca8bec6c30fa47adb52f42aa5336b3f32bd9202dc353ccc6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001773","is_excluded":false,"label":"Short foot","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"faf665e26e56ae06da0a0bcdbb72a891f4b86f2bf1b8170192129f096dbc2038","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200700","disease_name":"Acromesomelic dysplasia 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001964","is_excluded":false,"label":"Aplasia/Hypoplasia of metatarsal bones","onset_id":null,"reference":"OMIM:200700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fb751e10740c3a2bbe2af4f2e8c277c84323a22245b990e64c92540f88de6f38","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:932","disease_name":"Achondrogenesis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003510","is_excluded":false,"label":"Severe short stature","onset_id":null,"reference":"ORPHA:932","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fc8d91fe21e63e855902cab33198784f1a30b0a797fba2b4c889af548c6bc0bc","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004606","is_excluded":false,"label":"Unossified vertebral bodies","onset_id":null,"reference":"OMIM:200600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"fd1a9698b1ff751d88134bb2fba9dd51dbeb70abe09749a2020bc4ff36b1cb27","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:200600","disease_name":"Achondrogenesis, type IA","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0006640","is_excluded":false,"label":"Multiple rib fractures","onset_id":null,"reference":"PMID:29872333","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fdd68029173f44ba259d0f09e98a54b171bd3ea1a8ae4c47f16c1fecf82b679a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fe333b224fba1484fba1faa8c7391409513a33aa26eef3ea97ac4a3405a92197","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0012368","is_excluded":false,"label":"Flat face","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fe35d65cd770be531a9ef5003bd14502b902d182dff3505be575abea5a453326","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:600972","disease_name":"Achondrogenesis, type IB","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001789","is_excluded":false,"label":"Hydrops fetalis","onset_id":null,"reference":"OMIM:600972","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ff19d65e9df00ce7b713ec1f0f2760a6d74ce99de6cc0d76469f96efb6bde071","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:93299","disease_name":"Achondrogenesis type 1A","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0006703","is_excluded":false,"label":"Aplasia/Hypoplasia of the lungs","onset_id":null,"reference":"ORPHA:93299","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/achondrogenesis\">Achondrogenesis</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in different genes cause the three main types of achondrogenesis.</p><p>Variants in the TRIP11 gene cause achondrogenesis type 1A. This gene provides instructions for making a protein called thyroid receptor-interacting protein 11 (TRIP-11). TRIP-11 helps maintain the Golgi apparatus, a cell structure in which proteins are modified. Most of the variants in the TRIP11 gene that cause achondrogenesis type 1A prevent the production of functional TRIP-11 proteins. Researchers suspect that cells called chondrocytes may be sensitive to these changes. Chondrocytes give rise to cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Without enough functional TRIP-11, the Golgi apparatus cannot work properly, which likely contributes to the characteristic features of achondrogenesis type 1A.</p><p>Achondrogenesis type 1B is caused by variants in the SLC26A2 gene. This gene provides instructions for making a protein that transports charged molecules (ions), particularly sulfate ions, across cell membranes. This protein is essential for the normal development of cartilage and for converting cartilage into bone. Variants in the SLC26A2 gene disrupt the structure of developing cartilage, which prevents bones from forming properly. These changes cause the skeletal problems that are characteristic of achondrogenesis type 1B.</p><p>Achondrogenesis type 2 and hypochondrogenesis are caused by variants in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen, which is found in the clear gel that fills the eyeball (the vitreous) and in cartilage. Type II collagen is essential for the normal growth and development of bones and other connective tissues. Variants in the COL2A1 gene interfere with the formation of mature type II collagen molecules, which prevents bones and other connective tissues from developing properly in people with achondrogenesis type 2 and hypochondrogenesis.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/achondrogenesis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Achondrogenesis?"},{"bodyHtml":"<p>Researchers have described three main types of achondrogenesis: type 1A, type 1B, and type 2. While these types differ in their genetic causes and inheritance patterns, they often have overlapping signs and symptoms. Genetic testing and medical imaging are often needed to tell them apart.</p><p>All forms of achondrogenesis feature short arms and legs, a narrow chest, and underdeveloped lungs. Infants with achondrogenesis type 1A, which is also called TRIP11-related achondrogenesis, typically have ribs that fracture easily. Bone formation (ossification) is also severely reduced in the skull and spine.</p><p>Infants with achondrogenesis type 1B, which is also called SLC26A2-related achondrogenesis, often have short fingers and toes and feet that may turn inward and upward (clubfeet). Infants with achondrogenesis type 1B may also have a sac (pouch) formed from the inner lining of the abdominal cavity that pushes through a hole in the abdominal wall around the belly-button (umbilical hernia) or near the groin (inguinal hernia).</p><p>The ossification of the spine and pelvis may be severely reduced in infants with achondrogenesis type 2, which is also called COL2A1-related achondrogenesis. The distinctive facial features seen in infants with achondrogenesis type 2 include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (cleft palate).</p><p>Achondrogenesis type 2 and a similar skeletal disorder called hypochondrogenesis were once thought to be distinct conditions. However, because these conditions have overlapping features and a shared genetic cause, they are now considered to be part of the same disease spectrum.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/achondrogenesis\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"achondrogenesis","sourceDocuments":[{"name":"Achondrogenesis","reviewed":"2024-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:03.277076+00:00","label":"Causes","pageSha256":"640bca754366194dbbfa886410b94f04f2f67ecbd977b8bd87a19b129be72dde","sourceUrl":"https://medlineplus.gov/genetics/condition/achondrogenesis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/achondrogenesis"}],"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":"Achondrogenesis"},"schemaVersion":1}