{"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:0009039/OMIM:218600","label":"Baller-Gerold syndrome","mondoId":"MONDO:0009039","onsetQualifier":null,"recordKeys":["0158f50839be08a76c8e9d236fba2f3eb53b05a19c4a8c444db7e792fd9bfb83","068d37045c6752624006a8f122bc0aaef990050cd64af98d566dc3901b0cbdcd","06f0bb41054f62d0e398fdb8bb9ff9278cf4115142ccd98fc5c16d819839e1a7","08c9c82b362b83ceb8fc913fb5725d90f68497f5194ced898865d1b21241252a","0ba969e80735b6c80236b04768452ad99c0c966541c31e13b1df0cdcf74a5531","0bcec295920dd164ea1c34aaae3f13db6f613ad14c52cb2564b7d54e5cf6728e","0cd81ceced8b4f56827ebe12ba824f55f5b059ca5b144ddd99d5d0137390d710","0e2069d67d86162d0a0b629c5e306b1c0087ebc90f7a859221a96948f704872a","13b013dd763ebf0b985444d552f1bd91f3806b7a037aedb2ad4760d8c8eb2d78","1712534f26dd2b6b2cfab1e41d4fb5c51931b2db9c5d109ace3e5ccd27272a00","17879453c20939f1c9e5284a4c1508c61e3380b86c1a931dc296aadaa89c7d6e","1af931027cd5f91d0ff8dad66b4d44ba3efeacc48d38727ee1a92112abbdcb04","1c682201c7c53ac8cfdd9c9740ef228b64fac19526c1bad02370ce575b8f0e64","1f1294b4a23fd3c711e20939876926fb0b63f21e58d3a4ccaf8479508ddf3672","2385fbd8347e99711e84b540506cb8c55e3dd970b022eb2cfc77a789fe575e15","25643b3a4ef58b04e984573406d5fffabe474e58a6c802453cc6a101318c6dcc","2606c5c8392ce323a6ec7df0b991cee2f84327e38e0db5ddfaa5ab59d7a6a848","27e1256219571c7842c7ddafc7e1c7bbd6129096a15544ac357bb0a8f050fce7","2bf6a9c0e288d41c73d1bc5991aad5f01f892b57e75316e5cca4f2e878c4f2b4","3536dccde914fde9e67f21df6df75416f5647c424de20f665bf224ddb9492f69","3895fe7b0fdf407b699e10f3996c8ca7a0b61189a141342cbb7d67f54885c826","3983dc020aabc38f4c3a497e184cedddfcb485acd67590d4a1b21355a2892356","3bc46c64b2ad3cca829fcd00f148ec83ff5ce85db790350b284975ffb7a7e689","3d47dd56a07fedc44cd6cf7507f0f5f23c7ba7816a74f1a429baffad3b8ae236","40f07b95353675ecc614704a8e3937f00df14a57ba367858e959c53658818a8a","4369613ffc6bdfefd9b1dd0999241d8cdb6ba0993bf22a84d65bf59a4ddcd879","448802f1d6b26c1717e2e213a2d89b3d17dcc51868521ec18d55e04bb82f49bd","475f2fabbf3e8123a9d1fe2f1f9a938945b0946fdbb005c9cb7520f938e35db1","48e15520fc3f8998d5c67620d211ab93b3c1164d7633e0414428137631d9517a","4a130309c9ec35c47e8cfeccb1f9f0983670c54e6b7b1da1591d75b0baf258a7","4a748e684976355b1030fc284ebbf9f85647d87cd4fbe30d595928c7f2af60ae","4c9c1889eada813eeea9f74790a10bfe94a48739d420e806cb536574c39f5e0e","4d20fe3022d31262a82142df85ac65e078f644674cfe501eb3a610f0d0202e9d","50ec186b4962d925c264da15209dbb943bd90796b35144787ab3c6df0b487210","54e2bb84c9ef8525faca009b0fe98b7f1758640f749569ff41409e6e2f75a183","592ded42d06659121e213e446b16f587ca3f3529fa4f1a829d6cb0cbf994b274","5b9dab90d8a0e685535f852e4fe25c38a0da897cc572501b1232eee10af92c63","5fa21c90a4ff9210053b26906fc506a88e5a25f3ad7381300882d1b6544d760a","602b8a1c9c7d5629777a4243a168d539f677c961d172671eea619f10359fa810","608b126a971b5b73c00fb8f35af996de5c460969b4b0f42e9636167d60ccd282","60be1f508c52dfce294ba6c1d33c6761ccbeeff9258a669ece53be47576735c4","61567dfcb834028d66527ed6c597df17789bad19778f72ec7ef09acff46533d5","628faf28449f064da615f7dbd1e067a3a9c93c611d54ac2d80023245e1ea1bbc","6598c178e43e8e104a664656119864b019002fa2b4acf83f0771faa77810a81e","66b73ca028267029a17ff6a174934f24ac1e918d21334279d7457c3233f68e6c","693f7d34003bb0f68d08cfe16ae77829c80c6cf63486b1995523fc73e6fb4d08","6e172baa016c8b29486d87df369956ff9d77ca01b1985638ebf23b78e8e24182","6e8907c17cb059b892363796312c270b97e90e9ef1d5db2f6f27339d422347da","7279597aaa1fcba6461f659749ee574ef42fa918ef94b305455425974971dbaa","72ffd323493b0ab9b516cc4b5d3422420866ccba54093f6aa95d12f83d060a36","7372caccce2cfb5f1486cfd116ce4126ffbfa4c30afb9c1403b7beb7f62718f5","7d04c9803a42dac4009ffc865c69e0c47a29da6b7f1d430b243ea666001a6fb0","8539e69fa971f6f0174faef04e0b6f2d9e188b3749f34cbd2ab270d9f91d5d44","85d50f1931a4eb361d9eb15138cb04aa3f60dc0624332a8635acdd54dd1e4d10","90692fed48647ea5d64b57240b1e8129d85ce8b930f9d00d36afb5eb8a9d209a","a0ba546d878d4918450170be4df78cb96b966d4b27755209de4db3c63d9f4310","a0f32c4be68a4802136fff56c3d155d19195a4fb7bf1a4cce0db11489bea8586","ae76783dd5474ac4893f42298e7ef2b8fea582e9f88a0c2db576019327240a5a","b853966f35656cb15bbfee4714e3b153262a847a9a73b6daaaa87f9bba363ba2","bf336e172ba7a7c3206c7965b4ac27639f50c88fd517f27f6a5050084fffafcb","bfb2b055b23a37789fd935b3b86fd562a9965c6cd6bdc3630d5992701970f206","c14172ededd808cd9f67db57112aa2a065713ca5fbe52fa14c298c5e08c8095c","c164c779e20ab3ef7ac911f73c82447005449828612c5c809020af960a807873","c37cf00f4d596f53a7389549eb26fa67ce720bae03a1e7aa9e97da113ccdf5f0","c438ee8aa203c163e72714671306834c4b8e7711663966c03d103ed830c250f4","c7d3c01fd96d4e5e57172b053e13739a80f3c1458ffad94798789df8b27dc8cb","c92224b55a5705707633db92762ae197d1de57df0858ce309eb76b0069ff4e22","ceedbfc740c46d3def72a1927682774fb186cd8f2fc8409b879863a35bcae7d6","d292929aa1185eaa49b93a172b4490c26fc619602db8e6393d07ea01d148f5b8","d81e69a6c4faa9dc0c4fa81092a5d75898822c71f63779f53d64e419a2649e1e","d8fb749ee7dc185db504753851831053289f3a18702c5c3061811861e390a5ca","dd1f367697e02cb7de80f1880aade50bf71ee659efb69987d1fe17ed90e2783e","e2265056283ed0e7caec540d883c16c43da2da8d363f80e951156aa38ef13041","e5c59997728ecf72297e611f72c2d5b8e72dd49a76ed76d53f98a1e7e83fad4a","e93c21385cdaaa2af7e4e31b0e9573f60ca31d6126808c0ab2fd881acc2d89bf","ea99ffc7b99ab48cba788706fcb475add7f2dc628eff465f2a8d4fcaccac0ae8","ead44d8f1aa38045ffca5406302c59d0d4b54ac413f9698fd93c6c24ec5b5dce","ebb14eefd014849bb7aa9d9f1da5aee0877f6181f218f84c97d00e34f381b734","ee2e0859432dc40b64ac5b12d7e5be0da8887fefebc9bde9e305b2780a4f414d","f161a84c991eb7bd8f84a47869b3bfa58309f7159246c5f40d5913432e17728e","f2d87ade88f5244546e17d5a2ae65b27448dde12de8e4bc4051daaaf7d9f5a83","fb8456e58a786f5944f4845c7639fb25a09dd3a8e2ee9ddc6dc8a4e664b8758d"],"recordQualifiers":{},"scopeLabel":"OMIM:218600","sourceIds":["OMIM:218600"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0009039/ORPHA:1225","label":"Baller-Gerold syndrome","mondoId":"MONDO:0009039","onsetQualifier":null,"recordKeys":["00e2a1cca0ff26699c09e62d3a21d01bbc85e2aead41444bb2acfb70253bdab9","044076bb7b148aeb5804815c97658a869336b326773320d36675e0cc30704445","06b4db1bf3321301c83cd119d4759fc2779283502d2ceb15b17a9180c5a0345f","1ed2b7bc6b46abcf6db383a03d5db715b8f011aab3ab2911e7669577a27c6424","2198bb696f64b8deb5c4f09c81cd48a218dd2239fa9a7b3d5477f0ff3764c938","23e2a9681e30c4f8151c0d82893dd5e1dc4dea5281572a82e75990277f8c0396","27f771d6c796ad877ac7424271685595b93ce07f1abd4b6e5a850efa10b7b92a","28c052efde0472514c81898f88877480ac0da54fd865f804664dd071e0f55ff9","3124a9035d9dbe328e185aca3cad1a844237b19eb2589b109b8d5d195f010301","3250684abe13c7504f7f268eefda97a5c98723320b02cda5084c3148d262fd9f","3433cab800b567a4f9f51f4ef150bae15c76c63385d642dbe76d4d206f4b5c30","34c44f5c89e1005ca5f20c26da6294f537532bb35c3f6d94dab1d7e7e3558229","3751a2ba0f0803c1651e577696ccd5003eada77d3132a992fe6ffceaef30f2d8","480006c4b9c0ccec8611a8d16531f0f7ad97851f09dc4358858fbd73696b2e7d","4870a78adfcf0005b6f610d31a712062ef93aa420038adaa76152d6c0f26bdaa","500e99ce8fe65f155322ef115fa69dd0187b478263a390d6d6d0457b83e03224","67e25d312156760077c0b89de74e524610afc0e5e8377257e429f2ae4bf87be3","6c73c061a9a36a7b915ad25d9436fad4321a407a70f9145e1897e45b9bfd77c3","733321d3f52f64a49116155de03d6c3414d981ad61086837e178f97dad2d6ce1","7bb6bd11bcba3f5c79a069a97194e28c6c27698d6a3b26680391a5c37809e25e","7cf018374b0f481203bab6f32f3faa591500d3e4460c3333f82aaf82cc6e58a6","7d080b623fcbbf27937ac4945ca662d64d56e6d81e17102b8df74566f6b7ab9d","82b91f631c7ef095409190d0216b3dfbe68001689c86088a80f238e360086ce9","835d2496b2af690173ec7d69f4615a71ab199418ac7c66a1a4cd3353678cf009","8665fbbfb72c0668471c60720d052d47197a23e741e16f759e092e2caaacd31d","8cdc8e86096cc17b40b7e61fe4b8eb1a8c86bd2ed1e5ca0d9e14e1ca7355b931","93baee0691459292a530930ae371bc2e21fe5fa6c505326e4b69eff4f6846acd","a3e5c8b9b40b78245859b6b8f85d95b7e141a7fccff04e5bcf0fe85a5a0954ee","a9e68122a068727c34e6e36893b5fdad9ef4fd0b609e3e13bee4af1d3e8d016a","ada40d43957e3f38be167d82965302e73d7f094bbedf65d4662c7533649babab","c7d92016143f2c4869baf4a905825aca53440e2dd0609d6b14485da56a34426f","c8f21e7681a25159a27527cef1c5f40bedaa5517ead48e55d80660e9b88e7d72","d6d334454d660bb64147d64895ef75c229c9e9aa7da22c59e1dbd8a3bac5579a","dd3fe89f4951616793311b9797a67131c3ff90e38dd3a9c2fab8dd659e076868","dfbc415e881208181a92ef8096ba31c8f20a86d0aad948035c6d4e0ebbbbed79","e3f999c442cd0ff34001be15684bcb9c57a733c5b4e9c42e54bf91ffaae0e3ad","ece49e2bb97b0c36786aa279a9ae3359bf621383093edeb1feb82b31ce31e9db","f00f17539c0c3d0d285a447aa060ffbfa34b64476717053e3312103e29cda5ca","f2a100d8caa468e9f8f74b7f49d8b238ac909f65a8a2218701e6a2265458f8c6","f49a7a0df1b680cec8b64cded2bff6616f64e0235493733ea1f31b18e650c7bc","f672051c01e2956ccf4f40d8085861dd8db093ef7d2e7315ee843865ac82cc9c","f8d6f3bb7ddd60ff031ddef641682ff099d33ff1b82b59c54051254ca7acaa9b","ff097d9d607d1598ce6f8769058ce47202c71e420dcfd030babdaa8c3a3a06c6"],"recordQualifiers":{},"scopeLabel":"ORPHA:1225","sourceIds":["ORPHA:1225"],"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:0009039/OMIM:218600","MONDO:0009039/ORPHA:1225"],"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":125,"sourceGroups":{"omim":41,"orphanet":43,"published":41}},"features":[{"hpoId":"HP:0001671","label":"Abnormal cardiac septum morphology","primary":false},{"hpoId":"HP:0030680","label":"Abnormal cardiovascular system morphology","primary":false},{"hpoId":"HP:0001191","label":"Abnormal carpal morphology","primary":false},{"hpoId":"HP:0001627","label":"Abnormal heart morphology","primary":false},{"hpoId":"HP:0100542","label":"Abnormal localization of kidney","primary":false},{"hpoId":"HP:0005916","label":"Abnormal metacarpal morphology","primary":false},{"hpoId":"HP:0003468","label":"Abnormal vertebral morphology","primary":false},{"hpoId":"HP:0000077","label":"Abnormality of the kidney","primary":false},{"hpoId":"HP:0000069","label":"Abnormality of the ureter","primary":false},{"hpoId":"HP:0003974","label":"Absent radius","primary":false},{"hpoId":"HP:0009777","label":"Absent thumb","primary":false},{"hpoId":"HP:0001274","label":"Agenesis of corpus callosum","primary":false},{"hpoId":"HP:0002023","label":"Anal atresia","primary":false},{"hpoId":"HP:0005201","label":"Anomalous splenoportal venous system","primary":false},{"hpoId":"HP:0001545","label":"Anteriorly placed anus","primary":false},{"hpoId":"HP:0005886","label":"Aphalangy of the hands","primary":false},{"hpoId":"HP:0010048","label":"Aplasia of metacarpal bones","primary":false},{"hpoId":"HP:0006498","label":"Aplasia/Hypoplasia of the patella","primary":false},{"hpoId":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","primary":false},{"hpoId":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","primary":false},{"hpoId":"HP:0000483","label":"Astigmatism","primary":false},{"hpoId":"HP:0011318","label":"Bicoronal synostosis","primary":false},{"hpoId":"HP:0000193","label":"Bifid uvula","primary":false},{"hpoId":"HP:0006487","label":"Bowing of the long bones","primary":false},{"hpoId":"HP:0000248","label":"Brachycephaly","primary":false},{"hpoId":"HP:0000244","label":"Brachyturricephaly","primary":false},{"hpoId":"HP:0000337","label":"Broad forehead","primary":false},{"hpoId":"HP:0004231","label":"Carpal bone aplasia","primary":false},{"hpoId":"HP:0009702","label":"Carpal synostosis","primary":false},{"hpoId":"HP:0002308","label":"Chiari malformation","primary":false},{"hpoId":"HP:0000452","label":"Choanal stenosis","primary":false},{"hpoId":"HP:0000175","label":"Cleft palate","primary":false},{"hpoId":"HP:0011120","label":"Concave nasal ridge","primary":false},{"hpoId":"HP:0000405","label":"Conductive hearing impairment","primary":false},{"hpoId":"HP:0004440","label":"Coronal craniosynostosis","primary":false},{"hpoId":"HP:0001363","label":"Craniosynostosis","primary":false},{"hpoId":"HP:0004334","label":"Dermal atrophy","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0000286","label":"Epicanthus","primary":false},{"hpoId":"HP:0010783","label":"Erythema","primary":false},{"hpoId":"HP:0001531","label":"Failure to thrive in infancy","primary":false},{"hpoId":"HP:0011968","label":"Feeding difficulties","primary":false},{"hpoId":"HP:0009380","label":"Finger aplasia","primary":false},{"hpoId":"HP:0004425","label":"Flat forehead","primary":false},{"hpoId":"HP:0009821","label":"Forearm undergrowth","primary":false},{"hpoId":"HP:0002007","label":"Frontal bossing","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0011003","label":"High myopia","primary":false},{"hpoId":"HP:0000218","label":"High palate","primary":false},{"hpoId":"HP:0000238","label":"Hydrocephalus","primary":false},{"hpoId":"HP:0000126","label":"Hydronephrosis","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0002984","label":"Hypoplasia of the radius","primary":false},{"hpoId":"HP:0003022","label":"Hypoplasia of the ulna","primary":false},{"hpoId":"HP:0000601","label":"Hypotelorism","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001511","label":"Intrauterine growth retardation","primary":false},{"hpoId":"HP:0004443","label":"Lambdoidal craniosynostosis","primary":false},{"hpoId":"HP:0000239","label":"Large fontanelles","primary":false},{"hpoId":"HP:0002996","label":"Limited elbow movement","primary":false},{"hpoId":"HP:0006467","label":"Limited shoulder movement","primary":false},{"hpoId":"HP:0011341","label":"Long upper lip","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0002665","label":"Lymphoma","primary":false},{"hpoId":"HP:0002024","label":"Malabsorption","primary":false},{"hpoId":"HP:0000347","label":"Micrognathia","primary":false},{"hpoId":"HP:0007452","label":"Midface capillary hemangioma","primary":false},{"hpoId":"HP:0000410","label":"Mixed hearing impairment","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0000545","label":"Nearsightedness","primary":false},{"hpoId":"HP:0000275","label":"Narrow face","primary":false},{"hpoId":"HP:0000160","label":"Narrow mouth","primary":false},{"hpoId":"HP:0000446","label":"Narrow nasal bridge","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0002870","label":"Obstructive sleep apnea","primary":false},{"hpoId":"HP:0012165","label":"Oligodactyly","primary":false},{"hpoId":"HP:0000648","label":"Optic atrophy","primary":false},{"hpoId":"HP:0000609","label":"Optic nerve hypoplasia","primary":false},{"hpoId":"HP:0002669","label":"Osteosarcoma","primary":false},{"hpoId":"HP:0000263","label":"Oxycephaly","primary":false},{"hpoId":"HP:0006443","label":"Patellar aplasia","primary":false},{"hpoId":"HP:0003065","label":"Patellar hypoplasia","primary":false},{"hpoId":"HP:0004871","label":"Perineal fistula","primary":false},{"hpoId":"HP:0001029","label":"Poikiloderma","primary":false},{"hpoId":"HP:0002126","label":"Polymicrogyria","primary":false},{"hpoId":"HP:0000358","label":"Posteriorly rotated ears","primary":false},{"hpoId":"HP:0011220","label":"Prominent forehead","primary":false},{"hpoId":"HP:0000426","label":"Prominent nasal bridge","primary":false},{"hpoId":"HP:0000520","label":"Proptosis","primary":false},{"hpoId":"HP:0009486","label":"Radial deviation of the hand","primary":false},{"hpoId":"HP:0000143","label":"Rectovaginal fistula","primary":false},{"hpoId":"HP:0000902","label":"Rib fusion","primary":false},{"hpoId":"HP:0004442","label":"Sagittal craniosynostosis","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0008846","label":"Severe intrauterine growth retardation","primary":false},{"hpoId":"HP:0003510","label":"Severe short stature","primary":false},{"hpoId":"HP:0005792","label":"Short humerus","primary":false},{"hpoId":"HP:0003196","label":"Short nose","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0003298","label":"Spina bifida occulta","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0000233","label":"Thin vermilion border","primary":false},{"hpoId":"HP:0000262","label":"Turricephaly","primary":false},{"hpoId":"HP:0003031","label":"Ulnar bowing","primary":false},{"hpoId":"HP:0000430","label":"Underdeveloped nasal alae","primary":false},{"hpoId":"HP:0100589","label":"Urogenital fistula","primary":false},{"hpoId":"HP:0000076","label":"Vesicoureteral reflux","primary":false},{"hpoId":"HP:0000260","label":"Wide anterior fontanel","primary":false}],"ledeHtml":"Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.","mondoId":"MONDO:0009039","records":[{"frequencyKind":"range","key":"00e2a1cca0ff26699c09e62d3a21d01bbc85e2aead41444bb2acfb70253bdab9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000275","is_excluded":false,"label":"Narrow face","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0158f50839be08a76c8e9d236fba2f3eb53b05a19c4a8c444db7e792fd9bfb83","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000193","is_excluded":false,"label":"Bifid uvula","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"044076bb7b148aeb5804815c97658a869336b326773320d36675e0cc30704445","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001191","is_excluded":false,"label":"Abnormal carpal morphology","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"068d37045c6752624006a8f122bc0aaef990050cd64af98d566dc3901b0cbdcd","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000452","is_excluded":false,"label":"Choanal stenosis","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"06b4db1bf3321301c83cd119d4759fc2779283502d2ceb15b17a9180c5a0345f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"06f0bb41054f62d0e398fdb8bb9ff9278cf4115142ccd98fc5c16d819839e1a7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002996","is_excluded":false,"label":"Limited elbow movement","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"08c9c82b362b83ceb8fc913fb5725d90f68497f5194ced898865d1b21241252a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000263","is_excluded":false,"label":"Oxycephaly","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0ba969e80735b6c80236b04768452ad99c0c966541c31e13b1df0cdcf74a5531","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004425","is_excluded":false,"label":"Flat forehead","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0bcec295920dd164ea1c34aaae3f13db6f613ad14c52cb2564b7d54e5cf6728e","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000358","is_excluded":false,"label":"Posteriorly rotated ears","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0cd81ceced8b4f56827ebe12ba824f55f5b059ca5b144ddd99d5d0137390d710","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0011318","is_excluded":false,"label":"Bicoronal synostosis","onset_id":null,"reference":"PMID:1583650","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0e2069d67d86162d0a0b629c5e306b1c0087ebc90f7a859221a96948f704872a","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002023","is_excluded":false,"label":"Anal atresia","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"13b013dd763ebf0b985444d552f1bd91f3806b7a037aedb2ad4760d8c8eb2d78","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1712534f26dd2b6b2cfab1e41d4fb5c51931b2db9c5d109ace3e5ccd27272a00","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"17879453c20939f1c9e5284a4c1508c61e3380b86c1a931dc296aadaa89c7d6e","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000648","is_excluded":false,"label":"Optic atrophy","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1af931027cd5f91d0ff8dad66b4d44ba3efeacc48d38727ee1a92112abbdcb04","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000430","is_excluded":false,"label":"Underdeveloped nasal alae","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1c682201c7c53ac8cfdd9c9740ef228b64fac19526c1bad02370ce575b8f0e64","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003468","is_excluded":false,"label":"Abnormal vertebral morphology","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1ed2b7bc6b46abcf6db383a03d5db715b8f011aab3ab2911e7669577a27c6424","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1f1294b4a23fd3c711e20939876926fb0b63f21e58d3a4ccaf8479508ddf3672","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"2198bb696f64b8deb5c4f09c81cd48a218dd2239fa9a7b3d5477f0ff3764c938","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2385fbd8347e99711e84b540506cb8c55e3dd970b022eb2cfc77a789fe575e15","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"23e2a9681e30c4f8151c0d82893dd5e1dc4dea5281572a82e75990277f8c0396","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100589","is_excluded":false,"label":"Urogenital fistula","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"25643b3a4ef58b04e984573406d5fffabe474e58a6c802453cc6a101318c6dcc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2606c5c8392ce323a6ec7df0b991cee2f84327e38e0db5ddfaa5ab59d7a6a848","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007452","is_excluded":false,"label":"Midface capillary hemangioma","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"27e1256219571c7842c7ddafc7e1c7bbd6129096a15544ac357bb0a8f050fce7","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"27f771d6c796ad877ac7424271685595b93ce07f1abd4b6e5a850efa10b7b92a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000337","is_excluded":false,"label":"Broad forehead","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"28c052efde0472514c81898f88877480ac0da54fd865f804664dd071e0f55ff9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003196","is_excluded":false,"label":"Short nose","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2bf6a9c0e288d41c73d1bc5991aad5f01f892b57e75316e5cca4f2e878c4f2b4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000609","is_excluded":false,"label":"Optic nerve hypoplasia","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3124a9035d9dbe328e185aca3cad1a844237b19eb2589b109b8d5d195f010301","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0006498","is_excluded":false,"label":"Aplasia/Hypoplasia of the patella","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3250684abe13c7504f7f268eefda97a5c98723320b02cda5084c3148d262fd9f","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002669","is_excluded":false,"label":"Osteosarcoma","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3433cab800b567a4f9f51f4ef150bae15c76c63385d642dbe76d4d206f4b5c30","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000126","is_excluded":false,"label":"Hydronephrosis","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"34c44f5c89e1005ca5f20c26da6294f537532bb35c3f6d94dab1d7e7e3558229","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002665","is_excluded":false,"label":"Lymphoma","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3536dccde914fde9e67f21df6df75416f5647c424de20f665bf224ddb9492f69","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002126","is_excluded":false,"label":"Polymicrogyria","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3751a2ba0f0803c1651e577696ccd5003eada77d3132a992fe6ffceaef30f2d8","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001531","is_excluded":false,"label":"Failure to thrive in infancy","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3895fe7b0fdf407b699e10f3996c8ca7a0b61189a141342cbb7d67f54885c826","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"3983dc020aabc38f4c3a497e184cedddfcb485acd67590d4a1b21355a2892356","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0010783","is_excluded":false,"label":"Erythema","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3bc46c64b2ad3cca829fcd00f148ec83ff5ce85db790350b284975ffb7a7e689","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0002308","is_excluded":false,"label":"Chiari malformation","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3d47dd56a07fedc44cd6cf7507f0f5f23c7ba7816a74f1a429baffad3b8ae236","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0002870","is_excluded":false,"label":"Obstructive sleep apnea","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"40f07b95353675ecc614704a8e3937f00df14a57ba367858e959c53658818a8a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0011341","is_excluded":false,"label":"Long upper lip","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4369613ffc6bdfefd9b1dd0999241d8cdb6ba0993bf22a84d65bf59a4ddcd879","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005792","is_excluded":false,"label":"Short humerus","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"448802f1d6b26c1717e2e213a2d89b3d17dcc51868521ec18d55e04bb82f49bd","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"475f2fabbf3e8123a9d1fe2f1f9a938945b0946fdbb005c9cb7520f938e35db1","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000239","is_excluded":false,"label":"Large fontanelles","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"480006c4b9c0ccec8611a8d16531f0f7ad97851f09dc4358858fbd73696b2e7d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4870a78adfcf0005b6f610d31a712062ef93aa420038adaa76152d6c0f26bdaa","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000076","is_excluded":false,"label":"Vesicoureteral reflux","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"48e15520fc3f8998d5c67620d211ab93b3c1164d7633e0414428137631d9517a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009702","is_excluded":false,"label":"Carpal synostosis","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"4a130309c9ec35c47e8cfeccb1f9f0983670c54e6b7b1da1591d75b0baf258a7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0004443","is_excluded":false,"label":"Lambdoidal craniosynostosis","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4a748e684976355b1030fc284ebbf9f85647d87cd4fbe30d595928c7f2af60ae","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"4c9c1889eada813eeea9f74790a10bfe94a48739d420e806cb536574c39f5e0e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000262","is_excluded":false,"label":"Turricephaly","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4d20fe3022d31262a82142df85ac65e078f644674cfe501eb3a610f0d0202e9d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0003974","is_excluded":false,"label":"Absent radius","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"500e99ce8fe65f155322ef115fa69dd0187b478263a390d6d6d0457b83e03224","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000520","is_excluded":false,"label":"Proptosis","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"50ec186b4962d925c264da15209dbb943bd90796b35144787ab3c6df0b487210","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000902","is_excluded":false,"label":"Rib fusion","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"54e2bb84c9ef8525faca009b0fe98b7f1758640f749569ff41409e6e2f75a183","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0003065","is_excluded":false,"label":"Patellar hypoplasia","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"592ded42d06659121e213e446b16f587ca3f3529fa4f1a829d6cb0cbf994b274","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0011003","is_excluded":false,"label":"High myopia","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"5b9dab90d8a0e685535f852e4fe25c38a0da897cc572501b1232eee10af92c63","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003298","is_excluded":false,"label":"Spina bifida occulta","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5fa21c90a4ff9210053b26906fc506a88e5a25f3ad7381300882d1b6544d760a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003031","is_excluded":false,"label":"Ulnar bowing","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"602b8a1c9c7d5629777a4243a168d539f677c961d172671eea619f10359fa810","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"3/6","hpo_id":"HP:0000260","is_excluded":false,"label":"Wide anterior fontanel","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"608b126a971b5b73c00fb8f35af996de5c460969b4b0f42e9636167d60ccd282","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"60be1f508c52dfce294ba6c1d33c6761ccbeeff9258a669ece53be47576735c4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000426","is_excluded":false,"label":"Prominent nasal bridge","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"61567dfcb834028d66527ed6c597df17789bad19778f72ec7ef09acff46533d5","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001627","is_excluded":false,"label":"Abnormal heart morphology","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"628faf28449f064da615f7dbd1e067a3a9c93c611d54ac2d80023245e1ea1bbc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0011120","is_excluded":false,"label":"Concave nasal ridge","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6598c178e43e8e104a664656119864b019002fa2b4acf83f0771faa77810a81e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0000248","is_excluded":false,"label":"Brachycephaly","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"66b73ca028267029a17ff6a174934f24ac1e918d21334279d7457c3233f68e6c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0004440","is_excluded":false,"label":"Coronal craniosynostosis","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"67e25d312156760077c0b89de74e524610afc0e5e8377257e429f2ae4bf87be3","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000069","is_excluded":false,"label":"Abnormality of the ureter","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"693f7d34003bb0f68d08cfe16ae77829c80c6cf63486b1995523fc73e6fb4d08","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0011220","is_excluded":false,"label":"Prominent forehead","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6c73c061a9a36a7b915ad25d9436fad4321a407a70f9145e1897e45b9bfd77c3","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000239","is_excluded":false,"label":"Large fontanelles","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"6e172baa016c8b29486d87df369956ff9d77ca01b1985638ebf23b78e8e24182","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000244","is_excluded":false,"label":"Brachyturricephaly","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"6e8907c17cb059b892363796312c270b97e90e9ef1d5db2f6f27339d422347da","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0030680","is_excluded":false,"label":"Abnormal cardiovascular system morphology","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"7279597aaa1fcba6461f659749ee574ef42fa918ef94b305455425974971dbaa","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"4/6","hpo_id":"HP:0001363","is_excluded":false,"label":"Craniosynostosis","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"72ffd323493b0ab9b516cc4b5d3422420866ccba54093f6aa95d12f83d060a36","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"3/6","hpo_id":"HP:0009777","is_excluded":false,"label":"Absent thumb","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"733321d3f52f64a49116155de03d6c3414d981ad61086837e178f97dad2d6ce1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0006487","is_excluded":false,"label":"Bowing of the long bones","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7372caccce2cfb5f1486cfd116ce4126ffbfa4c30afb9c1403b7beb7f62718f5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0010048","is_excluded":false,"label":"Aplasia of metacarpal bones","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7bb6bd11bcba3f5c79a069a97194e28c6c27698d6a3b26680391a5c37809e25e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0006501","is_excluded":false,"label":"Aplasia/Hypoplasia of the radius","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7cf018374b0f481203bab6f32f3faa591500d3e4460c3333f82aaf82cc6e58a6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000426","is_excluded":false,"label":"Prominent nasal bridge","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7d04c9803a42dac4009ffc865c69e0c47a29da6b7f1d430b243ea666001a6fb0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0002984","is_excluded":false,"label":"Hypoplasia of the radius","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7d080b623fcbbf27937ac4945ca662d64d56e6d81e17102b8df74566f6b7ab9d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"82b91f631c7ef095409190d0216b3dfbe68001689c86088a80f238e360086ce9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000248","is_excluded":false,"label":"Brachycephaly","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"835d2496b2af690173ec7d69f4615a71ab199418ac7c66a1a4cd3353678cf009","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8539e69fa971f6f0174faef04e0b6f2d9e188b3749f34cbd2ab270d9f91d5d44","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000410","is_excluded":false,"label":"Mixed hearing impairment","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"85d50f1931a4eb361d9eb15138cb04aa3f60dc0624332a8635acdd54dd1e4d10","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005201","is_excluded":false,"label":"Anomalous splenoportal venous system","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8665fbbfb72c0668471c60720d052d47197a23e741e16f759e092e2caaacd31d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0009380","is_excluded":false,"label":"Finger aplasia","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8cdc8e86096cc17b40b7e61fe4b8eb1a8c86bd2ed1e5ca0d9e14e1ca7355b931","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000446","is_excluded":false,"label":"Narrow nasal bridge","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"90692fed48647ea5d64b57240b1e8129d85ce8b930f9d00d36afb5eb8a9d209a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000233","is_excluded":false,"label":"Thin vermilion border","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"93baee0691459292a530930ae371bc2e21fe5fa6c505326e4b69eff4f6846acd","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a0ba546d878d4918450170be4df78cb96b966d4b27755209de4db3c63d9f4310","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0006443","is_excluded":false,"label":"Patellar aplasia","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a0f32c4be68a4802136fff56c3d155d19195a4fb7bf1a4cce0db11489bea8586","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0004334","is_excluded":false,"label":"Dermal atrophy","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a3e5c8b9b40b78245859b6b8f85d95b7e141a7fccff04e5bcf0fe85a5a0954ee","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000160","is_excluded":false,"label":"Narrow mouth","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a9e68122a068727c34e6e36893b5fdad9ef4fd0b609e3e13bee4af1d3e8d016a","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001029","is_excluded":false,"label":"Poikiloderma","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ada40d43957e3f38be167d82965302e73d7f094bbedf65d4662c7533649babab","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ae76783dd5474ac4893f42298e7ef2b8fea582e9f88a0c2db576019327240a5a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006467","is_excluded":false,"label":"Limited shoulder movement","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"b853966f35656cb15bbfee4714e3b153262a847a9a73b6daaaa87f9bba363ba2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004231","is_excluded":false,"label":"Carpal bone aplasia","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"bf336e172ba7a7c3206c7965b4ac27639f50c88fd517f27f6a5050084fffafcb","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004871","is_excluded":false,"label":"Perineal fistula","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"bfb2b055b23a37789fd935b3b86fd562a9965c6cd6bdc3630d5992701970f206","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"c14172ededd808cd9f67db57112aa2a065713ca5fbe52fa14c298c5e08c8095c","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0008846","is_excluded":false,"label":"Severe intrauterine growth retardation","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c164c779e20ab3ef7ac911f73c82447005449828612c5c809020af960a807873","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000143","is_excluded":false,"label":"Rectovaginal fistula","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c37cf00f4d596f53a7389549eb26fa67ce720bae03a1e7aa9e97da113ccdf5f0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001274","is_excluded":false,"label":"Agenesis of corpus callosum","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c438ee8aa203c163e72714671306834c4b8e7711663966c03d103ed830c250f4","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000545","is_excluded":false,"label":"Myopia","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"c7d3c01fd96d4e5e57172b053e13739a80f3c1458ffad94798789df8b27dc8cb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c7d92016143f2c4869baf4a905825aca53440e2dd0609d6b14485da56a34426f","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100542","is_excluded":false,"label":"Abnormal localization of kidney","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c8f21e7681a25159a27527cef1c5f40bedaa5517ead48e55d80660e9b88e7d72","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000601","is_excluded":false,"label":"Hypotelorism","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c92224b55a5705707633db92762ae197d1de57df0858ce309eb76b0069ff4e22","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000160","is_excluded":false,"label":"Narrow mouth","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ceedbfc740c46d3def72a1927682774fb186cd8f2fc8409b879863a35bcae7d6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000238","is_excluded":false,"label":"Hydrocephalus","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"d292929aa1185eaa49b93a172b4490c26fc619602db8e6393d07ea01d148f5b8","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000077","is_excluded":false,"label":"Abnormality of the kidney","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d6d334454d660bb64147d64895ef75c229c9e9aa7da22c59e1dbd8a3bac5579a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0009601","is_excluded":false,"label":"Aplasia/Hypoplasia of the thumb","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d81e69a6c4faa9dc0c4fa81092a5d75898822c71f63779f53d64e419a2649e1e","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000405","is_excluded":false,"label":"Conductive hearing impairment","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d8fb749ee7dc185db504753851831053289f3a18702c5c3061811861e390a5ca","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003022","is_excluded":false,"label":"Hypoplasia of the ulna","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"dd1f367697e02cb7de80f1880aade50bf71ee659efb69987d1fe17ed90e2783e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0009486","is_excluded":false,"label":"Radial deviation of the hand","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"dd3fe89f4951616793311b9797a67131c3ff90e38dd3a9c2fab8dd659e076868","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000405","is_excluded":false,"label":"Conductive hearing impairment","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dfbc415e881208181a92ef8096ba31c8f20a86d0aad948035c6d4e0ebbbbed79","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e2265056283ed0e7caec540d883c16c43da2da8d363f80e951156aa38ef13041","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0003510","is_excluded":false,"label":"Severe short stature","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e3f999c442cd0ff34001be15684bcb9c57a733c5b4e9c42e54bf91ffaae0e3ad","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001545","is_excluded":false,"label":"Anteriorly placed anus","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e5c59997728ecf72297e611f72c2d5b8e72dd49a76ed76d53f98a1e7e83fad4a","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0001029","is_excluded":false,"label":"Poikiloderma","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e93c21385cdaaa2af7e4e31b0e9573f60ca31d6126808c0ab2fd881acc2d89bf","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"3/6","hpo_id":"HP:0001545","is_excluded":false,"label":"Anteriorly placed anus","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"ea99ffc7b99ab48cba788706fcb475add7f2dc628eff465f2a8d4fcaccac0ae8","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ead44d8f1aa38045ffca5406302c59d0d4b54ac413f9698fd93c6c24ec5b5dce","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000483","is_excluded":false,"label":"Astigmatism","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"ebb14eefd014849bb7aa9d9f1da5aee0877f6181f218f84c97d00e34f381b734","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004442","is_excluded":false,"label":"Sagittal craniosynostosis","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ece49e2bb97b0c36786aa279a9ae3359bf621383093edeb1feb82b31ce31e9db","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002023","is_excluded":false,"label":"Anal atresia","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ee2e0859432dc40b64ac5b12d7e5be0da8887fefebc9bde9e305b2780a4f414d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005886","is_excluded":false,"label":"Aphalangy of the hands","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f00f17539c0c3d0d285a447aa060ffbfa34b64476717053e3312103e29cda5ca","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f161a84c991eb7bd8f84a47869b3bfa58309f7159246c5f40d5913432e17728e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"OMIM:218600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f2a100d8caa468e9f8f74b7f49d8b238ac909f65a8a2218701e6a2265458f8c6","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002024","is_excluded":false,"label":"Malabsorption","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f2d87ade88f5244546e17d5a2ae65b27448dde12de8e4bc4051daaaf7d9f5a83","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0009821","is_excluded":false,"label":"Forearm undergrowth","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f49a7a0df1b680cec8b64cded2bff6616f64e0235493733ea1f31b18e650c7bc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f672051c01e2956ccf4f40d8085861dd8db093ef7d2e7315ee843865ac82cc9c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000244","is_excluded":false,"label":"Brachyturricephaly","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f8d6f3bb7ddd60ff031ddef641682ff099d33ff1b82b59c54051254ca7acaa9b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005916","is_excluded":false,"label":"Abnormal metacarpal morphology","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fb8456e58a786f5944f4845c7639fb25a09dd3a8e2ee9ddc6dc8a4e664b8758d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:218600","disease_name":"Baller-Gerold syndrome","evidence":"PCS","frequency_raw":"3/6","hpo_id":"HP:0012165","is_excluded":false,"label":"Oligodactyly","onset_id":null,"reference":"PMID:15964893","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ff097d9d607d1598ce6f8769058ce47202c71e420dcfd030babdaa8c3a3a06c6","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1225","disease_name":"Baller-Gerold syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001671","is_excluded":false,"label":"Abnormal cardiac septum morphology","onset_id":null,"reference":"ORPHA:1225","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/baller-gerold-syndrome\">Baller-Gerold syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the RECQL4 gene cause some cases of Baller-Gerold syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA. The RECQL4 protein helps stabilize genetic information in the body&#x27;s cells and plays a role in replicating and repairing DNA.</p><p>Mutations in the RECQL4 gene prevent cells from producing any RECQL4 protein or change the way the protein is pieced together, which disrupts its usual function. A shortage of this protein may prevent normal DNA replication and repair, causing widespread damage to a person&#x27;s genetic information over time. It is unclear how a loss of this protein&#x27;s activity leads to the signs and symptoms of Baller-Gerold syndrome.</p><p>This condition has been associated with prenatal (before birth) exposure to a drug called sodium valproate. This medication is used to treat epilepsy and certain psychiatric disorders. Some infants whose mothers took sodium valproate during pregnancy were born with the characteristic features of Baller-Gerold syndrome, such as an unusual skull shape, distinctive facial features, and abnormalities of the arms and hands. However, it is unclear if exposure to the medication caused the condition.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/baller-gerold-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Baller-Gerold syndrome?"},{"bodyHtml":"<p>People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. Other sutures of the skull may be fused as well. These changes result in an abnormally shaped head, a prominent forehead, and bulging eyes with shallow eye sockets (ocular proptosis). Other distinctive facial features can include widely spaced eyes (hypertelorism), a small mouth, and a saddle-shaped or underdeveloped nose.</p><p>Bone abnormalities in the hands include missing fingers (oligodactyly) and malformed or absent thumbs. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations.</p><p>People with Baller-Gerold syndrome may have a variety of additional signs and symptoms including slow growth beginning in infancy, small stature, and malformed or missing kneecaps (patellae). A skin rash often appears on the arms and legs a few months after birth. This rash spreads over time, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These chronic skin problems are collectively known as poikiloderma.</p><p>The varied signs and symptoms of Baller-Gerold syndrome overlap with features of other disorders, namely Rothmund-Thomson syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/baller-gerold-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"baller-gerold-syndrome","sourceDocuments":[{"name":"Baller-Gerold syndrome","reviewed":"2013-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:43.812048+00:00","label":"Causes","pageSha256":"0d5e26127b285d6b9c7db8e1d5d0a79415f28c167ee0b169c12437ea8ab0eca0","sourceUrl":"https://medlineplus.gov/genetics/condition/baller-gerold-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/baller-gerold-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Baller-Gerold syndrome"},"schemaVersion":1}