{"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:0008999/OMIM:216550","label":"Cohen syndrome","mondoId":"MONDO:0008999","onsetQualifier":null,"recordKeys":["01fe69eb894f8b9df3dde6c6717df945a317123063888953946d346fb5227cd0","0b810c48bc7a1e1282e7e0c4c5ab2b82496e33ae287b36c72599bb72f7749a03","0bbc461d62542ad194a58eb317ab51d39b1a4d026897dd9aa3b32ccc4c3b0dab","0ced1e7113e013c6f7f618e862645fe446f657a0293de1909a4ee9707d0a0a7e","10d7249f0b3db6691934384106af16e15c127c52cfbdfe6cde839d6dabe02c96","1127bbc35add8c5fb836df998159630199fe38d8cbe0230022f0d2ee66228bb7","15bfb761be854e29e34ea6e62d99b783c530fcc624798be2258a7d0fbe84f647","191b74659b20cbf07ad1ac49073de58506cb80059949dd01f2a95cd83c39e53f","1e2f72d192738f93fb5423455a32d85fdc6c6479adbf3514bc4c3600f71ba015","20665cb31e8e749b8a3b2a4271339d39e088910a7b8e9b4b34692b37c08a2af0","23b6e5bd73ac58268648247ee89bfe14720da805afe1cd6fceab76d2b5e9326b","2aff3ddecb1302b1a5bdbd49d534ae4944caf7e296d57b39bd084aff2edbf7e0","2fba263b0f8d40416abe670b0886f714102f43350fb529edc9a8cdd60950cd27","32531428c3de7cd332ff44a3af8dae767f2433bad22a89e8bf2c74d6808ea864","3fd5ad278fe7cff87ab581b9058376b197a77467eab28cfb177f1232d045b60c","42a361ab52736b4924b5b95bff0f6140254f9e9853d3d6e73ebd738292b05d5e","517a6321c01bbacd830d76337dcb21a6f7a197bcd1d9076db4381b9b7554c4d7","54455cc680f29688b1393bf83f0834d8e517ad0586a13303dd8a903ea773e2f5","583d8c40959ee67a791f31e7ecf37658414acd3f174342f9698f72b992ccf4a8","5ada1d8239e2542324e5bfc8020c8e7e0ae9774d517bede85fa83c95923c3453","626e93a85966a5448c40631b7eb6cf261c723bdd0e81833dac2a3048185bf332","649c3abf0dcaa65defcfb656f734505abb897a6b56efa9bcf35943b8c8e7b522","696c3e8f95fb66371ca5399dc428e4c0c3f89980c08e79c2760da50cd5275b26","69e24c57305f9c23f98fd56e0f1f0837f61b6c8fe16a9a50de2f6a9269269c0e","6a3f8fcfe21d11fc301879d5cfafabd6eeebd1672030c3e499474b92424e3f1f","749dd1105b8cd36eff65ab75e694cebeea44053872bee9e2f3a0cd48a07d06bb","76caa96058bfb29d502eeea9bde8403707b5b74ad26dfa285eddebce45b7ddd0","84d6605d10cecabb4508354a89e81530929c549974eb80829e79b1c5bce31917","8e564d7b6a7ccca7b0fccb793a716f65ac741eb7f66aa27a07a5662083d850b7","99d8562b8c408a15705c559a19bb00d4d2163f19751bfbf5efea8e5a47c4b99e","a2da10a8a1408564f324b3bcfe2db5d0cf6b46dcac8df404d495bf327bb2f3c4","a43041b2134a785cd8c3600d7e118808dad740bb92f30ca1b7d087bcc1b08c74","aac25829203bc6b1977bbd071609f0868eee608a78e98caf29a5d650ec6cecd5","abba095f35cbace22f40c6018b27727259cab0808e46eb27744ed053aa77b38b","ac6170056fe3d52c55f2ffcd47268b58069eb41af5f6c95dde83f7c171731cf2","b005ba85f2621ce761297776169370fe55bc078f54c3f56fbdffa846f0826a2f","b046cf7aba097cab716315b99582543994b5b5daa52474478328162a84c4dc05","b9d499b926a62541534df701ba643c815ed54c3f5b532f81356da778301c20de","c0e90cd9881b7ee7113943a3f7ccc654d364c147b6dd4a86d8eb9835be9fb1c1","c2a1d9cddf1baec1bd7dfafdfb2de7e5ec65488c53dbc0dd89f992d116488ebf","c31cd691f68939b1a20d7af62d8af3b9d68292b3f522c5c97e6457ec3f176fa1","c92d03a90b9e08ffe23ad5e7441e38daf43bd2df2300d247e82b6207a5bb1a76","cacb7813ae26bfc87f83bdd8b6addd1996054c232437a1a3cbb2b5d4297dab2c","cc5c1a6776110d96594bf89ce3cb0722916ce1761b5e2509e030049d201f1db1","ce4551dfc3dd2c47a6c76081db78f528fc931570ef224993fcb873184dad062b","cf59e9806a1bd30ec7b8b7f77543d334865d3b08d4ee1f99764b8dc61573ce3b","cfced68c22c7a84d048567010fc5a1df2a6b48c3527cd662fe539476b909a131","d020e93948bd519be6c09dd4a0a79bfe3b172efaba985e251925a62271e637d5","d575b1f46484a5ca062a3cd4751a2fa23047cb21d043a6845a17f466784dcc40","e65e1c542e848b6b475ea5291fe376961924991c533a7e71eb29d71a6074c5b9","e6975792c7a91687e0c329eadfc5b08610fd47b0f488fd21b0222161c9573851","e865e227524d08575390517ed333ccfe2f5f74e6bfd04b72ea6e6e33724341dc","e8bd16cb03fd43277c68b6c774ade2e960a61361d0033ce6d8bff32a92ae7008","e9fa5519556f875d1420942766648c6b1dd59cbdf919deca6b7a9de1363afd32","edd38bcbd01db53dd2c8fbb15db33fb3af6982cbb5ed4827e46005291a7abbe8","f60de04bfff71a1398ade2d2fe5d54d43e0ce579f423f4c6ab498ffaf705f152","f8b0697766915dcec2a5c9dce1d318e361b69b1af352e811401894ce56d843b1","f9e1090050c638a656021dc637b6b21bddef555c722f36b318ea413e1ce54f3c","fecd29485472be1b74b05120181ffccba94175ae7431c484650e98f0f081a750"],"recordQualifiers":{},"scopeLabel":"OMIM:216550","sourceIds":["OMIM:216550"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0008999/ORPHA:193","label":"Cohen syndrome","mondoId":"MONDO:0008999","onsetQualifier":null,"recordKeys":["056f8bc6bdce79db897c5591b9a6a3b2bf3c1684baa79cf61e5d7f276c49da02","05afdc0a9992f89c19bc9a4116a7e4cfe128300e977a96c982cfda0295b52035","09cf16ef74e91bcf554822d16901deb1ed6bab9a9b51001725a038c0dc3ac6d3","14e9ed899d174b92df7cda58487dac15e826b11c4d37a060992b692cb4cc04c3","18d1afd7150988773c7ce8dba5c2a446fb9e186ce3b9b10358aba14a3f1e8419","18d62f82b5141ec4abe1d3af6818ecb638eb884506b693f07c499e3300c0704b","1a3322549749be7d365e2049360eeadd153c40678b98fa0004e638c2fc2b9b5b","1ad5222f70f92bf28599f4a75b18aacc90968c1f10ce9eb570900019e0fa6118","1f39433f1986b575529f57053cc3935c26b9461dd48e573bedf364bb134be4a0","2474831794c8dad8037c350f25aa1189fd219bdd6787a53a9e874d7359de35e3","255971c069254051f93aa4bc7759d194fbba3852739cb3e33c1fa7f1218bd337","275541a03b9bda114f2fa4beac063aacba884ca9d625aad8f5c4a26bd8c1c42d","374c9607031a2815212a79fa4baee5fb34d840b15a49c93a33fe7f7d5100b30a","4818762cbd0c99e0bad36a976d9d5bcaea91e1c9416b08d50dac60fa869f712f","49187f5c7d2411d324b51817f58bf3eac69694bd74e240fded43be317c3843a4","4d3c6e8e1b6bdc8c09883e690b13abab4f8701f428b5f079150ddf344b2d04f0","56a46c3e90dd97cdbbff495c8806ac1987ecde463a884c28a6b8cee57856d9a5","5861695933b3b007cd3039c7501c9e0a4eb3b334b47f645cac806894711a3a36","5aeb089b21920f10d132175a6635df399d7e4c914169705c1320e2b0d706eaa1","5da57153331c18789fffcb3bf7d1cbc38544c443e85db214e546c20f0d5af735","6565100c7c46bfd32ade130d3ad7b5bf8ac07c504a66b407eeacf86f935bf041","66dca5d6acecd5590a557bba9d8c7d2c20de99820e6dbe32c095b04de1a0a9bc","6b3bbd362296f1ec38eb0ad5771b73bde12bb80b96ff16a1a62f681ae4752ee0","6e099a32678fa2970296d26ee99cee4e8c48def2ee6cca28bbba550d9722f627","6ea3daa7ad9139f5bcc9d03cb01c07db3bfbea522469d0933b9cc29834817027","71da7b1222ee6593cc86bc1de251d661d5d6b123104127413b9ccd42a304818c","72ee7e2af9faca4254f3b02a6e63eb08e93a9d83926af49ee7b483d5c687f171","796d72223ceb10aafd832fe4204dc3074a2543ce85c8c5fe91e0dfbc0d393093","797b411a3f731c9d2223f5b7c13c8c797eaf62d1c1b860aba5e9e1adf7d19dec","7b4ab7cb6988d6415890dd4ff0888a471128b35cebbf0b852a924631e4a0e6cf","876a32cdfa00fd37d80e591116d6eea5a33b4e319861a3f1db4aa43464e84c8a","877520e10bdc73dabbbf6b2837cfd0652292936191a518a0dac0a0b81ddbce89","93ad93c659b567293d8ade0a4f996909ddf368caf002c2c5a886d5fca7bc6d70","97a24c8f977fe2558a2b26186c74e4219b2a664ef6f7f98353b43f223009c6b7","992492d306c6f3b19e45ebb824d732430307f45bdfedf696e7383aafa5a1875d","a44b4c385d03ec8000eb390627c4b8590cb509f776b1d02b3fca707071e51bc9","a665605dc8128432a2b2294fcf69953bd06cdcde24f739be68b991f85dd77a88","aa7e469da025782ab2e45a00ac071569e59992536a2d799961a0513ad89ad2ef","aaeedd1d7b13a9026ee3f8eeeff6b7e5037421d75894a7e22c26be8989ee0344","acf202026a14b4161fcb1fd2426a25411e015409414b888fedf5de62b2da767d","ad769275738ce4c0cca30bc11c25c86b33d1c637b4d4e32f9882245f2be79263","af7e7f9f90b5a450626fcbcc4c0fdc89db12501cf257a42bca5bb1cbf59d6de3","b0c0774f9342a9da762d125c1c1b99f4e8ae864ba4ca2c2cdf1491d7c16ad63b","b605a055eec55821b28c1d40c90507e71c1cdd45e36e36cf55150936ea2bdacd","b6b7549b978901510a261b0b3d96171e6b6d6b8b3eadf8e65fbb4ee27d6ba24e","b7d6c372d10fdbb8169cfb3d1a4cdd991c9cc65cf78d80fe09aed41524fffc7a","bd05b1fbe1d33fcb7b4d1bdde281282fe8c8465b7205c43627f218edb376a17f","bfde47c00eee18a049e916f0c9b320cafbd8cec78976ed7658b4ab7c0be5c368","c0783697063245e33eb367446732cf3839c7f8243c032821095eb0642036ca7a","c10834630208ad23f25f9cb746ff81546c47a126a9296b1d8154639d25ee3786","c13ed4dd7c5a67a114d22e76df08316c94aeb99019bcf1a83a8ac9ce158d5521","ca900f8adf62be36d94badff6cdc312bc2481c60f72eece86cec0356af9ca361","cad9684f2262705cbe14154c97ba1af72a6ef798ce5f3e3ae83cc46f7041c006","d4a69d9e6b45a6a2370d193e56feb87a67701d3baf56f730452c226874763e8b","d833df1e54c4af7db6ffd74c8c6aee0ef3857b9c14a7297812be5b14fe26308e","e11d95c51df472a0cdaf329fcd442ad896568f640f3e2eb045d7cb74547958fb","e202459da4f063fb72fdadc8b9eb9f5bb78eef0aca515af70f5d4a5e3868a93c","e2d98ed77e8bd8fd2ad92ac40e26f4c8ec814d5b771dd390aa35c1f5195f3bd3","e4681168879fe84a6f951daf3ed01b1f67961aa08bffde60faaa9a198c97f493","edeef5af83a584f05d1fcba9b5b4fca256e25727b1b9c3656de1d04a6e2f0346","ee6703e3001a96a88bd380e001fa7aac7b8b59d67d38d18bf26e454593eaf307","efb04152e47a91710270fd53accc7c225fcecac0fcfaa657bc318695a603345d","f12aaa59212bbbbc0f478039cf703543d500b9c56bf7b81cd170fce74a6c8c1d","fe4f19aeb59c676bd753be34f9c88099816603e95f4ff65c1181dd16fa0bd8e8"],"recordQualifiers":{},"scopeLabel":"ORPHA:193","sourceIds":["ORPHA:193"],"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:0008999/OMIM:216550","MONDO:0008999/ORPHA:193"],"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":28,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":123,"sourceGroups":{"omim":31,"orphanet":64,"published":28}},"features":[{"hpoId":"HP:0000499","label":"Abnormal eyelash morphology","primary":false},{"hpoId":"HP:0000492","label":"Abnormal eyelid morphology","primary":false},{"hpoId":"HP:0003272","label":"Abnormal hip bone morphology","primary":false},{"hpoId":"HP:0007703","label":"Abnormal retinal pigmentation","primary":false},{"hpoId":"HP:0001000","label":"Abnormal skin pigmentation","primary":false},{"hpoId":"HP:0002167","label":"Abnormal speech pattern","primary":false},{"hpoId":"HP:0000164","label":"Abnormality of the dentition","primary":false},{"hpoId":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","primary":false},{"hpoId":"HP:0010295","label":"Aplasia/Hypoplasia of the tongue","primary":false},{"hpoId":"HP:0001166","label":"Arachnodactyly","primary":false},{"hpoId":"HP:0000729","label":"Autistic behavior","primary":false},{"hpoId":"HP:0011504","label":"Bull's eye maculopathy","primary":false},{"hpoId":"HP:0200046","label":"Cat cry","primary":false},{"hpoId":"HP:0001321","label":"Cerebellar hypoplasia","primary":false},{"hpoId":"HP:0008915","label":"Childhood-onset truncal obesity","primary":false},{"hpoId":"HP:0001135","label":"Chorioretinal dystrophy","primary":false},{"hpoId":"HP:0004209","label":"Clinodactyly of the 5th finger","primary":false},{"hpoId":"HP:0000444","label":"Convex nasal ridge","primary":false},{"hpoId":"HP:0000028","label":"Cryptorchidism","primary":false},{"hpoId":"HP:0002967","label":"Cubitus valgus","primary":false},{"hpoId":"HP:0001558","label":"Decreased fetal movement","primary":false},{"hpoId":"HP:0000824","label":"Decreased response to growth hormone stimulation test","primary":false},{"hpoId":"HP:0001882","label":"Decreased total leukocyte count","primary":false},{"hpoId":"HP:0001875","label":"Decreased total neutrophil count","primary":false},{"hpoId":"HP:0031936","label":"Delayed ability to walk","primary":false},{"hpoId":"HP:0000823","label":"Delayed puberty","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0000297","label":"Facial hypotonia","primary":false},{"hpoId":"HP:0001531","label":"Failure to thrive in infancy","primary":false},{"hpoId":"HP:0008872","label":"Feeding difficulties in infancy","primary":false},{"hpoId":"HP:0006101","label":"Finger syndactyly","primary":false},{"hpoId":"HP:0002857","label":"Genu valgum","primary":false},{"hpoId":"HP:0000212","label":"Gingival overgrowth","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0002705","label":"High, narrow palate","primary":false},{"hpoId":"HP:0000327","label":"Hypoplasia of the maxilla","primary":false},{"hpoId":"HP:0010669","label":"Hypoplasia of the zygomatic bone","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001511","label":"Intrauterine growth retardation","primary":false},{"hpoId":"HP:0000612","label":"Iris coloboma","primary":false},{"hpoId":"HP:0001382","label":"Joint hypermobility","primary":false},{"hpoId":"HP:0002808","label":"Kyphosis","primary":false},{"hpoId":"HP:0001601","label":"Laryngomalacia","primary":false},{"hpoId":"HP:0000527","label":"Long eyelashes","primary":false},{"hpoId":"HP:0000294","label":"Low anterior hairline","primary":false},{"hpoId":"HP:0002938","label":"Lumbar hyperlordosis","primary":false},{"hpoId":"HP:0001572","label":"Macrodontia","primary":false},{"hpoId":"HP:0000675","label":"Macrodontia of permanent maxillary central incisor","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0000347","label":"Micrognathia","primary":false},{"hpoId":"HP:0000568","label":"Microphthalmia","primary":false},{"hpoId":"HP:0001634","label":"Mitral valve prolapse","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0000545","label":"Nearsightedness","primary":false},{"hpoId":"HP:0001786","label":"Narrow foot","primary":false},{"hpoId":"HP:0000189","label":"Narrow palate","primary":false},{"hpoId":"HP:0004283","label":"Narrow palm","primary":false},{"hpoId":"HP:0001319","label":"Neonatal hypotonia","primary":false},{"hpoId":"HP:0000662","label":"Nyctalopia","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0001513","label":"Obesity","primary":false},{"hpoId":"HP:0000194","label":"Open mouth","primary":false},{"hpoId":"HP:0000648","label":"Optic atrophy","primary":false},{"hpoId":"HP:0000767","label":"Pectus excavatum","primary":false},{"hpoId":"HP:0001763","label":"Pes planus","primary":false},{"hpoId":"HP:0000580","label":"Pigmentary retinopathy","primary":false},{"hpoId":"HP:0002033","label":"Poor suck","primary":false},{"hpoId":"HP:0000384","label":"Preauricular skin tag","primary":false},{"hpoId":"HP:0011231","label":"Prominent eyelashes","primary":false},{"hpoId":"HP:0000426","label":"Prominent nasal bridge","primary":false},{"hpoId":"HP:0007663","label":"Reduced visual acuity","primary":false},{"hpoId":"HP:0001852","label":"Sandal gap","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0000407","label":"Sensorineural hearing loss","primary":false},{"hpoId":"HP:0010049","label":"Short metacarpal","primary":false},{"hpoId":"HP:0010743","label":"Short metatarsal","primary":false},{"hpoId":"HP:0000322","label":"Short philtrum","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0000954","label":"Single transverse palmar crease","primary":false},{"hpoId":"HP:0011308","label":"Slender toe","primary":false},{"hpoId":"HP:0001518","label":"Small for gestational age","primary":false},{"hpoId":"HP:0007737","label":"Spicular pigmentation of the retina","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0001182","label":"Tapered finger","primary":false},{"hpoId":"HP:0007074","label":"Thick corpus callosum","primary":false},{"hpoId":"HP:0000574","label":"Thick eyebrow","primary":false},{"hpoId":"HP:0100874","label":"Thick hair","primary":false},{"hpoId":"HP:0012471","label":"Thick vermilion border","primary":false},{"hpoId":"HP:0002943","label":"Thoracic scoliosis","primary":false},{"hpoId":"HP:0009804","label":"Tooth agenesis","primary":false},{"hpoId":"HP:0001956","label":"Truncal obesity","primary":false},{"hpoId":"HP:0001629","label":"Ventricular septal defect","primary":false},{"hpoId":"HP:0000505","label":"Visual impairment","primary":false},{"hpoId":"HP:0001612","label":"Weak cry","primary":false}],"ledeHtml":"Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features common in this condition include worsening nearsightedness (myopia), breakdown (degeneration) of the light-sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint movement (hypermobility), and distinctive facial features. These facial features typically include thick hair and eyebrows, long eyelashes, unusually-shaped eyes (down-slanting and wave-shaped), a bulbous nasal tip, a smooth or shortened area between the nose and the upper lip (philtrum), and prominent upper central teeth. The combination of the last two facial features results in an open mouth.","mondoId":"MONDO:0008999","records":[{"frequencyKind":"reported","key":"01fe69eb894f8b9df3dde6c6717df945a317123063888953946d346fb5227cd0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002967","is_excluded":false,"label":"Cubitus valgus","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"056f8bc6bdce79db897c5591b9a6a3b2bf3c1684baa79cf61e5d7f276c49da02","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000212","is_excluded":false,"label":"Gingival overgrowth","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"05afdc0a9992f89c19bc9a4116a7e4cfe128300e977a96c982cfda0295b52035","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001629","is_excluded":false,"label":"Ventricular septal defect","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"09cf16ef74e91bcf554822d16901deb1ed6bab9a9b51001725a038c0dc3ac6d3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001852","is_excluded":false,"label":"Sandal gap","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"0b810c48bc7a1e1282e7e0c4c5ab2b82496e33ae287b36c72599bb72f7749a03","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000574","is_excluded":false,"label":"Thick eyebrow","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0bbc461d62542ad194a58eb317ab51d39b1a4d026897dd9aa3b32ccc4c3b0dab","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000322","is_excluded":false,"label":"Short philtrum","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0ced1e7113e013c6f7f618e862645fe446f657a0293de1909a4ee9707d0a0a7e","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001135","is_excluded":false,"label":"Chorioretinal dystrophy","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"10d7249f0b3db6691934384106af16e15c127c52cfbdfe6cde839d6dabe02c96","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000505","is_excluded":false,"label":"Visual impairment","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1127bbc35add8c5fb836df998159630199fe38d8cbe0230022f0d2ee66228bb7","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000648","is_excluded":false,"label":"Optic atrophy","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"14e9ed899d174b92df7cda58487dac15e826b11c4d37a060992b692cb4cc04c3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001166","is_excluded":false,"label":"Arachnodactyly","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"15bfb761be854e29e34ea6e62d99b783c530fcc624798be2258a7d0fbe84f647","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"18d1afd7150988773c7ce8dba5c2a446fb9e186ce3b9b10358aba14a3f1e8419","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000545","is_excluded":false,"label":"Myopia","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"18d62f82b5141ec4abe1d3af6818ecb638eb884506b693f07c499e3300c0704b","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001634","is_excluded":false,"label":"Mitral valve prolapse","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"191b74659b20cbf07ad1ac49073de58506cb80059949dd01f2a95cd83c39e53f","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001634","is_excluded":false,"label":"Mitral valve prolapse","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1a3322549749be7d365e2049360eeadd153c40678b98fa0004e638c2fc2b9b5b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1ad5222f70f92bf28599f4a75b18aacc90968c1f10ce9eb570900019e0fa6118","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000568","is_excluded":false,"label":"Microphthalmia","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1e2f72d192738f93fb5423455a32d85fdc6c6479adbf3514bc4c3600f71ba015","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000580","is_excluded":false,"label":"Pigmentary retinopathy","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1f39433f1986b575529f57053cc3935c26b9461dd48e573bedf364bb134be4a0","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008872","is_excluded":false,"label":"Feeding difficulties in infancy","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"20665cb31e8e749b8a3b2a4271339d39e088910a7b8e9b4b34692b37c08a2af0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0010049","is_excluded":false,"label":"Short metacarpal","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"23b6e5bd73ac58268648247ee89bfe14720da805afe1cd6fceab76d2b5e9326b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2474831794c8dad8037c350f25aa1189fd219bdd6787a53a9e874d7359de35e3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004283","is_excluded":false,"label":"Narrow palm","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"255971c069254051f93aa4bc7759d194fbba3852739cb3e33c1fa7f1218bd337","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001875","is_excluded":false,"label":"Decreased total neutrophil count","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"275541a03b9bda114f2fa4beac063aacba884ca9d625aad8f5c4a26bd8c1c42d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2aff3ddecb1302b1a5bdbd49d534ae4944caf7e296d57b39bd084aff2edbf7e0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002857","is_excluded":false,"label":"Genu valgum","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2fba263b0f8d40416abe670b0886f714102f43350fb529edc9a8cdd60950cd27","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"11/13","hpo_id":"HP:0007737","is_excluded":false,"label":"Spicular pigmentation of the retina","onset_id":null,"reference":"PMID:12446373","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"32531428c3de7cd332ff44a3af8dae767f2433bad22a89e8bf2c74d6808ea864","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0002033","is_excluded":false,"label":"Poor suck","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"374c9607031a2815212a79fa4baee5fb34d840b15a49c93a33fe7f7d5100b30a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000194","is_excluded":false,"label":"Open mouth","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3fd5ad278fe7cff87ab581b9058376b197a77467eab28cfb177f1232d045b60c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"42a361ab52736b4924b5b95bff0f6140254f9e9853d3d6e73ebd738292b05d5e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000426","is_excluded":false,"label":"Prominent nasal bridge","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"4818762cbd0c99e0bad36a976d9d5bcaea91e1c9416b08d50dac60fa869f712f","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100874","is_excluded":false,"label":"Thick hair","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"49187f5c7d2411d324b51817f58bf3eac69694bd74e240fded43be317c3843a4","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000612","is_excluded":false,"label":"Iris coloboma","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4d3c6e8e1b6bdc8c09883e690b13abab4f8701f428b5f079150ddf344b2d04f0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0009804","is_excluded":false,"label":"Tooth agenesis","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"517a6321c01bbacd830d76337dcb21a6f7a197bcd1d9076db4381b9b7554c4d7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000297","is_excluded":false,"label":"Facial hypotonia","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"54455cc680f29688b1393bf83f0834d8e517ad0586a13303dd8a903ea773e2f5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0010743","is_excluded":false,"label":"Short metatarsal","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"56a46c3e90dd97cdbbff495c8806ac1987ecde463a884c28a6b8cee57856d9a5","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0200046","is_excluded":false,"label":"Cat cry","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"583d8c40959ee67a791f31e7ecf37658414acd3f174342f9698f72b992ccf4a8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000729","is_excluded":false,"label":"Autistic behavior","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5861695933b3b007cd3039c7501c9e0a4eb3b334b47f645cac806894711a3a36","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000527","is_excluded":false,"label":"Long eyelashes","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5ada1d8239e2542324e5bfc8020c8e7e0ae9774d517bede85fa83c95923c3453","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001319","is_excluded":false,"label":"Neonatal hypotonia","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5aeb089b21920f10d132175a6635df399d7e4c914169705c1320e2b0d706eaa1","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5da57153331c18789fffcb3bf7d1cbc38544c443e85db214e546c20f0d5af735","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"626e93a85966a5448c40631b7eb6cf261c723bdd0e81833dac2a3048185bf332","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000675","is_excluded":false,"label":"Macrodontia of permanent maxillary central incisor","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"649c3abf0dcaa65defcfb656f734505abb897a6b56efa9bcf35943b8c8e7b522","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008915","is_excluded":false,"label":"Childhood-onset truncal obesity","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"6565100c7c46bfd32ade130d3ad7b5bf8ac07c504a66b407eeacf86f935bf041","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0006101","is_excluded":false,"label":"Finger syndactyly","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"66dca5d6acecd5590a557bba9d8c7d2c20de99820e6dbe32c095b04de1a0a9bc","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001513","is_excluded":false,"label":"Obesity","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"696c3e8f95fb66371ca5399dc428e4c0c3f89980c08e79c2760da50cd5275b26","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"69e24c57305f9c23f98fd56e0f1f0837f61b6c8fe16a9a50de2f6a9269269c0e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002705","is_excluded":false,"label":"High, narrow palate","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"6a3f8fcfe21d11fc301879d5cfafabd6eeebd1672030c3e499474b92424e3f1f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002938","is_excluded":false,"label":"Lumbar hyperlordosis","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"6b3bbd362296f1ec38eb0ad5771b73bde12bb80b96ff16a1a62f681ae4752ee0","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001000","is_excluded":false,"label":"Abnormal skin pigmentation","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6e099a32678fa2970296d26ee99cee4e8c48def2ee6cca28bbba550d9722f627","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000823","is_excluded":false,"label":"Delayed puberty","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6ea3daa7ad9139f5bcc9d03cb01c07db3bfbea522469d0933b9cc29834817027","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001572","is_excluded":false,"label":"Macrodontia","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"71da7b1222ee6593cc86bc1de251d661d5d6b123104127413b9ccd42a304818c","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007703","is_excluded":false,"label":"Abnormal retinal pigmentation","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"72ee7e2af9faca4254f3b02a6e63eb08e93a9d83926af49ee7b483d5c687f171","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002857","is_excluded":false,"label":"Genu valgum","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"749dd1105b8cd36eff65ab75e694cebeea44053872bee9e2f3a0cd48a07d06bb","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001601","is_excluded":false,"label":"Laryngomalacia","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"76caa96058bfb29d502eeea9bde8403707b5b74ad26dfa285eddebce45b7ddd0","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"18/22","hpo_id":"HP:0000662","is_excluded":false,"label":"Nyctalopia","onset_id":null,"reference":"PMID:12446373","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"796d72223ceb10aafd832fe4204dc3074a2543ce85c8c5fe91e0dfbc0d393093","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000648","is_excluded":false,"label":"Optic atrophy","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"797b411a3f731c9d2223f5b7c13c8c797eaf62d1c1b860aba5e9e1adf7d19dec","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7b4ab7cb6988d6415890dd4ff0888a471128b35cebbf0b852a924631e4a0e6cf","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001531","is_excluded":false,"label":"Failure to thrive in infancy","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"84d6605d10cecabb4508354a89e81530929c549974eb80829e79b1c5bce31917","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"876a32cdfa00fd37d80e591116d6eea5a33b4e319861a3f1db4aa43464e84c8a","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"877520e10bdc73dabbbf6b2837cfd0652292936191a518a0dac0a0b81ddbce89","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000767","is_excluded":false,"label":"Pectus excavatum","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8e564d7b6a7ccca7b0fccb793a716f65ac741eb7f66aa27a07a5662083d850b7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002943","is_excluded":false,"label":"Thoracic scoliosis","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"93ad93c659b567293d8ade0a4f996909ddf368caf002c2c5a886d5fca7bc6d70","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"97a24c8f977fe2558a2b26186c74e4219b2a664ef6f7f98353b43f223009c6b7","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000574","is_excluded":false,"label":"Thick eyebrow","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"992492d306c6f3b19e45ebb824d732430307f45bdfedf696e7383aafa5a1875d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002967","is_excluded":false,"label":"Cubitus valgus","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"99d8562b8c408a15705c559a19bb00d4d2163f19751bfbf5efea8e5a47c4b99e","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001875","is_excluded":false,"label":"Decreased total neutrophil count","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a2da10a8a1408564f324b3bcfe2db5d0cf6b46dcac8df404d495bf327bb2f3c4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a43041b2134a785cd8c3600d7e118808dad740bb92f30ca1b7d087bcc1b08c74","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008872","is_excluded":false,"label":"Feeding difficulties in infancy","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a44b4c385d03ec8000eb390627c4b8590cb509f776b1d02b3fca707071e51bc9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003272","is_excluded":false,"label":"Abnormal hip bone morphology","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a665605dc8128432a2b2294fcf69953bd06cdcde24f739be68b991f85dd77a88","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002167","is_excluded":false,"label":"Abnormal speech pattern","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"aa7e469da025782ab2e45a00ac071569e59992536a2d799961a0513ad89ad2ef","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000426","is_excluded":false,"label":"Prominent nasal bridge","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"aac25829203bc6b1977bbd071609f0868eee608a78e98caf29a5d650ec6cecd5","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"aaeedd1d7b13a9026ee3f8eeeff6b7e5037421d75894a7e22c26be8989ee0344","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"abba095f35cbace22f40c6018b27727259cab0808e46eb27744ed053aa77b38b","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001518","is_excluded":false,"label":"Small for gestational age","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ac6170056fe3d52c55f2ffcd47268b58069eb41af5f6c95dde83f7c171731cf2","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0007663","is_excluded":false,"label":"Reduced visual acuity","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"acf202026a14b4161fcb1fd2426a25411e015409414b888fedf5de62b2da767d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002705","is_excluded":false,"label":"High, narrow palate","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ad769275738ce4c0cca30bc11c25c86b33d1c637b4d4e32f9882245f2be79263","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"af7e7f9f90b5a450626fcbcc4c0fdc89db12501cf257a42bca5bb1cbf59d6de3","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001135","is_excluded":false,"label":"Chorioretinal dystrophy","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b005ba85f2621ce761297776169370fe55bc078f54c3f56fbdffa846f0826a2f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"b046cf7aba097cab716315b99582543994b5b5daa52474478328162a84c4dc05","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001182","is_excluded":false,"label":"Tapered finger","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b0c0774f9342a9da762d125c1c1b99f4e8ae864ba4ca2c2cdf1491d7c16ad63b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001612","is_excluded":false,"label":"Weak cry","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b605a055eec55821b28c1d40c90507e71c1cdd45e36e36cf55150936ea2bdacd","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000499","is_excluded":false,"label":"Abnormal eyelash morphology","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b6b7549b978901510a261b0b3d96171e6b6d6b8b3eadf8e65fbb4ee27d6ba24e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002808","is_excluded":false,"label":"Kyphosis","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b7d6c372d10fdbb8169cfb3d1a4cdd991c9cc65cf78d80fe09aed41524fffc7a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b9d499b926a62541534df701ba643c815ed54c3f5b532f81356da778301c20de","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0007074","is_excluded":false,"label":"Thick corpus callosum","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"bd05b1fbe1d33fcb7b4d1bdde281282fe8c8465b7205c43627f218edb376a17f","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0009906","is_excluded":false,"label":"Aplasia/Hypoplasia of the earlobes","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bfde47c00eee18a049e916f0c9b320cafbd8cec78976ed7658b4ab7c0be5c368","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c0783697063245e33eb367446732cf3839c7f8243c032821095eb0642036ca7a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000164","is_excluded":false,"label":"Abnormality of the dentition","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c0e90cd9881b7ee7113943a3f7ccc654d364c147b6dd4a86d8eb9835be9fb1c1","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"5/9","hpo_id":"HP:0011504","is_excluded":false,"label":"Bull's eye maculopathy","onset_id":"HP:0011463","reference":"PMID:12446373","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c10834630208ad23f25f9cb746ff81546c47a126a9296b1d8154639d25ee3786","raw":{"aspect":"P","body_system":"prenatal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001558","is_excluded":false,"label":"Decreased fetal movement","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c13ed4dd7c5a67a114d22e76df08316c94aeb99019bcf1a83a8ac9ce158d5521","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c2a1d9cddf1baec1bd7dfafdfb2de7e5ec65488c53dbc0dd89f992d116488ebf","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"11/11","hpo_id":"HP:0000545","is_excluded":false,"label":"Myopia","onset_id":null,"reference":"PMID:12446373;PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c31cd691f68939b1a20d7af62d8af3b9d68292b3f522c5c97e6457ec3f176fa1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001321","is_excluded":false,"label":"Cerebellar hypoplasia","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"c92d03a90b9e08ffe23ad5e7441e38daf43bd2df2300d247e82b6207a5bb1a76","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001786","is_excluded":false,"label":"Narrow foot","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ca900f8adf62be36d94badff6cdc312bc2481c60f72eece86cec0356af9ca361","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"cacb7813ae26bfc87f83bdd8b6addd1996054c232437a1a3cbb2b5d4297dab2c","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"cad9684f2262705cbe14154c97ba1af72a6ef798ce5f3e3ae83cc46f7041c006","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010295","is_excluded":false,"label":"Aplasia/Hypoplasia of the tongue","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"cc5c1a6776110d96594bf89ce3cb0722916ce1761b5e2509e030049d201f1db1","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0011231","is_excluded":false,"label":"Prominent eyelashes","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ce4551dfc3dd2c47a6c76081db78f528fc931570ef224993fcb873184dad062b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0031936","is_excluded":false,"label":"Delayed ability to walk","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"cf59e9806a1bd30ec7b8b7f77543d334865d3b08d4ee1f99764b8dc61573ce3b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001763","is_excluded":false,"label":"Pes planus","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"cfced68c22c7a84d048567010fc5a1df2a6b48c3527cd662fe539476b909a131","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0012471","is_excluded":false,"label":"Thick vermilion border","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d020e93948bd519be6c09dd4a0a79bfe3b172efaba985e251925a62271e637d5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d4a69d9e6b45a6a2370d193e56feb87a67701d3baf56f730452c226874763e8b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000294","is_excluded":false,"label":"Low anterior hairline","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d575b1f46484a5ca062a3cd4751a2fa23047cb21d043a6845a17f466784dcc40","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0004283","is_excluded":false,"label":"Narrow palm","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d833df1e54c4af7db6ffd74c8c6aee0ef3857b9c14a7297812be5b14fe26308e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e11d95c51df472a0cdaf329fcd442ad896568f640f3e2eb045d7cb74547958fb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011308","is_excluded":false,"label":"Slender toe","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e202459da4f063fb72fdadc8b9eb9f5bb78eef0aca515af70f5d4a5e3868a93c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010669","is_excluded":false,"label":"Hypoplasia of the zygomatic bone","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e2d98ed77e8bd8fd2ad92ac40e26f4c8ec814d5b771dd390aa35c1f5195f3bd3","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000492","is_excluded":false,"label":"Abnormal eyelid morphology","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e4681168879fe84a6f951daf3ed01b1f67961aa08bffde60faaa9a198c97f493","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001182","is_excluded":false,"label":"Tapered finger","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e65e1c542e848b6b475ea5291fe376961924991c533a7e71eb29d71a6074c5b9","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000823","is_excluded":false,"label":"Delayed puberty","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e6975792c7a91687e0c329eadfc5b08610fd47b0f488fd21b0222161c9573851","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001882","is_excluded":false,"label":"Decreased total leukocyte count","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"e865e227524d08575390517ed333ccfe2f5f74e6bfd04b72ea6e6e33724341dc","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001956","is_excluded":false,"label":"Truncal obesity","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e8bd16cb03fd43277c68b6c774ade2e960a61361d0033ce6d8bff32a92ae7008","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000189","is_excluded":false,"label":"Narrow palate","onset_id":null,"reference":"PMID:29149870","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e9fa5519556f875d1420942766648c6b1dd59cbdf919deca6b7a9de1363afd32","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000824","is_excluded":false,"label":"Decreased response to growth hormone stimulation test","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"edd38bcbd01db53dd2c8fbb15db33fb3af6982cbb5ed4827e46005291a7abbe8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000327","is_excluded":false,"label":"Hypoplasia of the maxilla","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"edeef5af83a584f05d1fcba9b5b4fca256e25727b1b9c3656de1d04a6e2f0346","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ee6703e3001a96a88bd380e001fa7aac7b8b59d67d38d18bf26e454593eaf307","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"efb04152e47a91710270fd53accc7c225fcecac0fcfaa657bc318695a603345d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000327","is_excluded":false,"label":"Hypoplasia of the maxilla","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f12aaa59212bbbbc0f478039cf703543d500b9c56bf7b81cd170fce74a6c8c1d","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000384","is_excluded":false,"label":"Preauricular skin tag","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f60de04bfff71a1398ade2d2fe5d54d43e0ce579f423f4c6ab498ffaf705f152","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000194","is_excluded":false,"label":"Open mouth","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f8b0697766915dcec2a5c9dce1d318e361b69b1af352e811401894ce56d843b1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f9e1090050c638a656021dc637b6b21bddef555c722f36b318ea413e1ce54f3c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000444","is_excluded":false,"label":"Convex nasal ridge","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fe4f19aeb59c676bd753be34f9c88099816603e95f4ff65c1181dd16fa0bd8e8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:193","disease_name":"Cohen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000322","is_excluded":false,"label":"Short philtrum","onset_id":null,"reference":"ORPHA:193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fecd29485472be1b74b05120181ffccba94175ae7431c484650e98f0f081a750","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:216550","disease_name":"Cohen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000954","is_excluded":false,"label":"Single transverse palmar crease","onset_id":null,"reference":"OMIM:216550","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/cohen-syndrome\">Cohen 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 VPS13B gene (also called the COH1 gene) cause Cohen syndrome. The protein produced from this gene is a part of the Golgi apparatus, which is a cell structure in which newly produced proteins are modified so they can carry out their functions. In particular, the VPS13B protein is involved in a modification called glycosylation, which is the attachment of sugar molecules to proteins. The VPS13B protein also appears to be involved in the sorting and transporting of proteins inside the cell. This protein is thought to be involved in normal growth and development of nerve cells (neurons) and fat cells (adipocytes), and may play a role in the storage and distribution of fats in the body.</p><p>Most mutations in the VPS13B gene are believed to prevent the production of functional VPS13B protein. Studies suggest that a loss of this protein disrupts the organization of the Golgi apparatus and impairs normal glycosylation. However, it is not known how a lack of functional VPS13B protein or these cellular changes lead to the signs and symptoms of Cohen syndrome. Researchers speculate that problems with neuron development underlie microcephaly, intellectual disability, and retinal dystrophy and that abnormal fat storage may cause truncal obesity in people with Cohen syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/cohen-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Cohen syndrome?"},{"bodyHtml":"<p>The features of Cohen syndrome vary widely among affected individuals. Additional signs and symptoms in some individuals with this disorder include low levels of white blood cells (neutropenia), overly friendly behavior, and obesity that develops in late childhood or adolescence. When obesity is present, it typically occurs around the torso, with the arms and legs remaining slender (called truncal obesity). Individuals with Cohen syndrome may also have narrow hands and feet, and slender fingers.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/cohen-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"cohen-syndrome","sourceDocuments":[{"name":"Cohen syndrome","reviewed":"2017-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:25.988865+00:00","label":"Causes","pageSha256":"ca08631141344594fbafaa924d3a3c3fb745af1f12dde849b25ef43787bee7ce","sourceUrl":"https://medlineplus.gov/genetics/condition/cohen-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cohen-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":"Cohen syndrome"},"schemaVersion":1}