{"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:0012020/OMIM:608363","label":"Chromosome 22q11.2 duplication syndrome","mondoId":"MONDO:0012020","onsetQualifier":null,"recordKeys":["033cad574880cd1363b630857d2575022ad2b71e102757d4bb0d7fba403e06b1","2784aeb244ec7e45ce19160fc2a61f9e725b84a7a2f9c67183dfe5941c6b7d59","3c49905fadc5b1a14f9fab724d86f75b477e45ef3b82aacc238ff78be8c49d25","4c568a124bf8b7a3f4a680050c7ff24d298aab89312b944164a3ab64ed0ea110","5166674d78d20c8f1eb104da768d8e8c9dca33aa5314e5911cc8fe4cc79d4ed2","64bae7856ece29166bb8352884b1938f2f4af1e8eed0c9129befe2a4bd6c0dc7","728b70838ca2a70c6afda7d8f98f885ee17d395fb9db66cd5ea52c418fd61e44","87ccd8bf39cddce624ddeb26ceb0971c807a8d76e100996ba86b210f71aee9cf","9a122cc87ee5b0d1f4bf04e1a7eb1207a2af4a21b572eb0b7617073ee7fee27d","9b264b0c38d6ece7c95b6c80f5a61a25b99886a9c74204dc72bb4bf28bbc7bc3","a51285250d2a853ec79cdb2652925be494cf1e59f6a8a12f43947e5b520fd3fe","a606e057340ff7c64bc94f965041d1277e59dbfd0bb8f689c7f91f0a6f6340bd","b72286ae3b1fa7ce0e15a95b0f0b9b1f6d05a5ca7fac705eb0191dff2871d7ac","b73d2d2556483b0854e0715a7533d432ab0663c0bb63c1c9a5efe25857659441","c5c2c648fe9e3c879c8cb284860c1d7c301d2ec4c533134a614a3a6b0b0b40b2","d4f375ff71ce73865bd7832b12b78e0d3181ea91190c962653215d99d41f6f02","dc57bdd4e76011c946c05bccf3e1aa9daaf1cd593c9423aa168f3451152621f0","e8a6821dd3e1c8d0a4e450aaafa8405e704ebe49aa81d45850c56f29715f4375","fe6f8bd304ffe4a5bd88ade06690e329ba3490b0c8cd51cd8f426ad149e96694"],"recordQualifiers":{},"scopeLabel":"OMIM:608363","sourceIds":["OMIM:608363"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0012020/ORPHA:1727","label":"22q11.2 duplication syndrome","mondoId":"MONDO:0012020","onsetQualifier":null,"recordKeys":["13493f23df297239768950a849fb93695a02c365e18f9a3eb0dfe6ded0e667b4","1354a1b75414a45b9fc6c13c0e374b2f31961bc08bbb725cbe045e26afb7cb27","1a456cfb9b10db2960e65912b1b959945331fdb75cf39081481600f3ea9540dc","1bd4a42aa455e0c1a8d3b6bc6c46abde5239bef0c1445e6f88cbcc6b5cfe9f8d","1ddf5d45d042eee49c9785aec4ad2c95042b616ac84b9dbebead6aec3f290e3a","20c918339e073aabf3ce9380af227d65f4f5e38455eeda22f091960bf8b9d28b","34243cf3211f358b89626878781ff23ada723137bd9f67d84d64c3e3a5ea9cb3","37992ff10e34eefe965d1224bf7f8d6fca51b9160d01a864d64ed42aefae556e","3ef9c62799a41ef828ca98fa7773bde1f15c20e76274aac53a115a1c4d0cf993","468f965d1775bd798c0091a43f17696495e1b5d7bdc1cd914c4d984de0e18de3","4b2ca9c3f6295a5ddae983237b23600e00ab4f4f14647280bb3827fd9896b293","4e27bd47a71176810d173eefd8c6d2b6afa79324afae22e230fd62118a21f42d","4fffa07884569ebaaee74c60b203422710d9a0426d04cb8fcd528635514e9dfb","514bb09e3ad2847a49edd8bcb0662c72b2524995a6b632d1f0016d6f92343832","581d8b838e7054f87a3e945da9643950d8b4b6a87ee8b0063b6feea8ba8c650c","5b19c8f73487051c9f3f9acd7fdd62dd79ed2a0835a2ded96b66858988dd9093","67a15f0b71ba838916cf005db1c0385618678d3102476f48b753c7ac902f37bf","68dbc761eb4111c47ca0ed2d1ea776db1b939657a7a3f33041cd4daec85d8c5b","741213ed041eec2e1c7c7b47b7a608cafeab3cebe1e671b8f0f785905147ba2b","7655cbf579747e3e84310f97cecd33d936ecdfdb4a4aac6081ec40da96a150fb","7ad2707fd1985dfe0dcee03e0617ec8f707f78dcb4256350e7d9b3d4ca588c1d","7eb365be769edbb3d4defb0605be30a6530a879e54390619355e6fa8e8f4f6f1","964bce70d5c72d25e7f17301b20c16890e5ad94aef6465cabf45d632818041be","9a6024e5c86dd6fadaf50ada100b8fb523702804f827f7152b8e05f05c222fb6","9cc0bbca1307da7b3da71f48a7d10ca8a8423f2b6068641434ff8196e2c8dbd3","a360690e197731429ba05ed7e88c12706bb533ce8795922d01c42826c4098b26","a3ef1b9f3dbae85eb1853c8b8be5888823d457247aa94e12fe9b2bc60e33ad9d","a46fee5b6fc66dc500617ed29c1146eb0daaaa5a15afa6284505dc4f5ec65fd2","a8d4122d9f05b182bac943a9e95e0a3d105a5795f13a39f16035ed04e9f4a0b4","b6586dfa0b98673469f627cf3c27bb6e8d2da103e4788812b62ae22d6d3f5851","bee8cdb36ff11aa6f33349ec5a6917bd82a18bbc961352ecfeb8ac21c4c53249","c7bad0be474fdc0b2629b6508f27911be64f055c7cd2b72e941fb3ed520f8c40","c926c2ea372716deb9289293b3d51fa1732cd7715517899b0e68c31235cc484f","cbeaf63e8171e0db6db3599e61d31593b304be3f9ae3ae9dbe7a94f114976dfd","dbeb33405279c42f4e8f9cdeb49fc2e5754937a582dd3a128374a02acb6d747c","dcfd6f9bec811cf409c588c2bdf3cff223ff7af30db1bc103c75d330eed21fc5","edae91093d00308c5692e794e2ce91c8a0c16f068065d520db76af7957e46267","ef5d3dde01856bcbb4261591f3a735a1a7fb159270c3f57d572826ebd8d4f175","f1abc8b24d75cbb79a53f7487f35b2023912ad5dfdfa6509d8395055c1f3cff1","f2d9ad7277a7abaf8200335694d5cc197d21d2d2269871096b1ea32ccc69cc43"],"recordQualifiers":{},"scopeLabel":"ORPHA:1727","sourceIds":["ORPHA:1727"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0016846/ORPHA:261337","label":"Distal 22q11.2 microduplication syndrome","mondoId":"MONDO:0016846","onsetQualifier":null,"recordKeys":["04895ba073cae746d3f5744a59eeb043d3e06253cbef6df220af4d2e306d249b","0a3c9fdbda83d835ff86791b8748d34675e07e6cadb69674a6869b48024d4aa9","104fa292656b488196f230919058c9220ceedb4753a3b17474be28c2a08e3602","1809d3cee4ecf21d9dbc9c75eee65c18de37d22a9e0b9e38e2cafa1b6a0b67f9","1f8d0094890cf93d3ce30bd12b6bacce736bc380ca3feba4aa58a4bddcb6f712","26557b528bc233e3276a9b24c681fedee1ac34131ff4be4b90b3b075a73f569a","289ba313297b25d7a1316d6d29eee1f6017c9a3d5958d347aeca50331397e129","28e29386403e4df7e8567eb5e8bea85719f526468f611a2c2807939c63f7e538","2e70fc046d7b24f66d79d606cd0f5d46fe9f355951cd4a6919b63bcd6cae7838","30dae6891e909e4242d9a12eaff43b3c34df1939811cddbd3e3300986bab92b4","3815bffc3b3fb8cdf3b22daca01ebeab7ab15e77aa2c8394930d03401de71f5b","3997c75849e1bac6765480e0103e8d652ef7fec57200482b64d47ade81c5d07e","3a795429e6b94f29d301031c2bb79cc4a5f33028dc331abf20160a6bc2775226","467e85ce7c13d4ed945420bdcce6ccee025e5f181f50ceed635d236b4fb727b4","4f0b6739c2085c8d5a05adb70c4fecd7a9ed0e000aa47837975ac33b5cee266b","4f36547f71c93f42292b365ab51010aeb63a399f1dc5d29d7a3c9768a1fbbb8e","5089fb268cd9fc9d3d91e8235a6488a36ef583ad7a5e468824ccb3a7c9bb3100","53f2eedb8195ba27f1ab7bcd752d9700b4ceba3c2389e341e3df5c3396241c28","5d162682b13faebca2d192d248c087f338c679d2c0b0b299eefe2543381ae7eb","5dffe82fe9a05b1a0620a730c57e75851c053586e175ce66ba0fa6efe818a2c7","63cf5a64cd9d0ebb3cfaf6d05461a79171c26d62f09f6117d43392572b0d419a","685301698ad32396916e9a1f432bae7635c299b7ff3f74f725b5843738167c14","6de95fdacf1da7d4c9c4f1e957d9eb06ae0998c8106dfd47e6ddf4e3226f346a","718612f3ffb163d434fd8e307bf9413ef1413ea76812287e7ba1a065b55f5f83","71ef24751f7b0450cb30bab2ed7f853676f26d711537a944649e71f4a419370a","721dc5a99282cb004aef493bf87b7626196936c19caf0b735c0893af6cb3a792","748b5f386e42a27c9f0e337fd04c730f2c1e9367f2ea7d9ddcba9823e6ee1d0c","7f3e5c2e41d6943a734b9b447935ee3137a96398fa4726a84a56863574e6014a","8391a8842291d4d22dd30a3a73b1cd8af8a9e098b9930638dc5ea9e388f62969","84b9c967e6e2b16ea5c769813b3f8a5007181f6293ae47e1bdd486c4226d3e52","89df532769f86f093bf453faffd91c496f22517d97f5563ba178f3203cae74eb","8adeabf0042afa480f6d33742cac45a5e27e2ef2e0376e460aeba9e59cf0da70","91a06c2efd9028a249ce062abcbe257a64aa934c2badfd0586fbde012ae92e79","94bcb173f1c5305f695046614993aaa6868960d8e1ea0c46c43b5f84bc80b215","9926853a1cd77b274ca906d77c15e8b1622d3e712ec97aabfc50d04af08b11d4","a185384fd6917c65da9e5fbc08f4a711edc31fac2bee3f4875fb5c41f29b9e68","a2d97d43a0760d132c3c888817be26e3ef4fcb35344696c3b974c8eb42253523","a457992eb5cbd03d08e5e954c253962b2caf9018987962b28d187acc5870aaca","a6e2fe813c4d9cd1ec6ee29f4443d748bc705ab614548614d018d2d967530173","ac291790db9fafce934ed8423c664fc69fb7ac7e5209dfd371c4df30407e6d9d","b0db7067d529aa4ee44618785327013ad9cea48d92704c29da86c2eaa9b3b523","be0eeefb3df8841ec30c43c4b52a334c58fd9539cb0f5e552dc55222f5de5933","c91d1cd37e86c5552ebec19433e59f05da7cf30ef59b525ddecc30b034a31411","ca38b419c3413e40930fe4c51bc77a3ba57370679a8aefd5e75732ec8215ef6e","cad28f8d9402219dcfc6361a7a4c5d60e22745c3965df7fec415c46f466ef771","cb3e3a18d09d9882c75446e1b180402e91e7647a1f5eea7922d599331dd907ad","cfb957c78e3a6dfc5d54acb811d2c8af12f7f671d0693c35c8144c544e4debe2","d52ecd04cd23128f8afc52c6a3a0c62d99c643b68b24d7701b966cf4a6f2cb6e","d5d0fa9f8d3dbf0232762f26ad61b77a6c1ae6a0a9d0acbc2dfd0d364433b607","dc8250e0a8f1c88f3daacabdb4569c8868f9a33ffcfce349652e2d32b4c924fa","ddc1bfee9336f7b047d265b150d9e4b845f46c6cb7d4878ba9880cc734b0cebe","de2e2eec62a62cb3ad0537ad99016de1cae99b94c439b2d6b5c6f986377a877e","dfe64b0aca442ea61414bd94af6ede9c2f8bf5cf730de2885502d84059919708","e8cd18156984363d9b5871a782b2c3c3d2a7dde7e26de56dd07c54267fc5a1f3","e8cf992278aa453309c1c4dc70acc1ff69fba10c486493d17280e34dda78866d","f3b497d8e0c4274bfc20bace4c47ae315f90cf296bcc506b69e5523c39cd7455","fefb0a53c42f707220a4f0dcc5c486db3223e16226110a9cc10347de284dccf2"],"recordQualifiers":{},"scopeLabel":"ORPHA:261337","sourceIds":["ORPHA:261337"],"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:0012020/OMIM:608363","MONDO:0012020/ORPHA:1727","MONDO:0016846/ORPHA:261337"],"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":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":116,"sourceGroups":{"omim":19,"orphanet":97,"published":0}},"features":[{"hpoId":"HP:0009738","label":"Abnormal antihelix morphology","primary":false},{"hpoId":"HP:0030680","label":"Abnormal cardiovascular system morphology","primary":false},{"hpoId":"HP:0011039","label":"Abnormal helix morphology","primary":false},{"hpoId":"HP:0000377","label":"Abnormal pinna morphology","primary":false},{"hpoId":"HP:0002167","label":"Abnormal speech pattern","primary":false},{"hpoId":"HP:0010978","label":"Abnormality of immune system physiology","primary":false},{"hpoId":"HP:0100022","label":"Abnormality of movement","primary":false},{"hpoId":"HP:0000600","label":"Abnormality of the pharynx","primary":false},{"hpoId":"HP:0002023","label":"Anal atresia","primary":false},{"hpoId":"HP:0009908","label":"Anterior creases of earlobe","primary":false},{"hpoId":"HP:0000739","label":"Anxiety","primary":false},{"hpoId":"HP:0010515","label":"Aplasia/Hypoplasia of the thymus","primary":false},{"hpoId":"HP:0007018","label":"Attention deficit hyperactivity disorder","primary":false},{"hpoId":"HP:0000717","label":"Autism","primary":false},{"hpoId":"HP:0004422","label":"Biparietal narrowing","primary":false},{"hpoId":"HP:0009795","label":"Branchial fistula","primary":false},{"hpoId":"HP:0000337","label":"Broad forehead","primary":false},{"hpoId":"HP:0000414","label":"Bulbous nose","primary":false},{"hpoId":"HP:0100490","label":"Camptodactyly of finger","primary":false},{"hpoId":"HP:0001836","label":"Camptodactyly of toe","primary":false},{"hpoId":"HP:0000175","label":"Cleft palate","primary":false},{"hpoId":"HP:0000280","label":"Coarse facial features","primary":false},{"hpoId":"HP:0000722","label":"Compulsive behaviors","primary":false},{"hpoId":"HP:0000028","label":"Cryptorchidism","primary":false},{"hpoId":"HP:0000490","label":"Deeply set eye","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0000457","label":"Depressed nasal ridge","primary":false},{"hpoId":"HP:0100627","label":"Displacement of the urethral meatus","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0001260","label":"Dysarthria","primary":false},{"hpoId":"HP:0001618","label":"Dysphonia","primary":false},{"hpoId":"HP:0000286","label":"Epicanthus","primary":false},{"hpoId":"HP:0002007","label":"Frontal bossing","primary":false},{"hpoId":"HP:0001290","label":"Generalized hypotonia","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0000348","label":"High forehead","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:0001611","label":"Hypernasal speech","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0004383","label":"Hypoplastic left ventricle","primary":false},{"hpoId":"HP:0001800","label":"Hypoplastic toenails","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0011611","label":"Interrupted aortic arch","primary":false},{"hpoId":"HP:0002463","label":"Language impairment","primary":false},{"hpoId":"HP:0000343","label":"Long philtrum","primary":false},{"hpoId":"HP:0002162","label":"Low posterior hairline","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0000256","label":"Macrocephaly","primary":false},{"hpoId":"HP:0000158","label":"Macroglossia","primary":false},{"hpoId":"HP:0000303","label":"Mandibular prognathia","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0000347","label":"Micrognathia","primary":false},{"hpoId":"HP:0011800","label":"Midface retrusion","primary":false},{"hpoId":"HP:0000733","label":"Motor stereotypy","primary":false},{"hpoId":"HP:0000275","label":"Narrow face","primary":false},{"hpoId":"HP:0000588","label":"Optic disc coloboma","primary":false},{"hpoId":"HP:0100540","label":"Palpebral edema","primary":false},{"hpoId":"HP:0001643","label":"Patent ductus arteriosus","primary":false},{"hpoId":"HP:0000411","label":"Protruding ear","primary":false},{"hpoId":"HP:0000508","label":"Ptosis","primary":false},{"hpoId":"HP:0000960","label":"Sacral dimple","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0000322","label":"Short philtrum","primary":false},{"hpoId":"HP:0000319","label":"Smooth philtrum","primary":false},{"hpoId":"HP:0001328","label":"Specific learning disability","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0001182","label":"Tapered finger","primary":false},{"hpoId":"HP:0001636","label":"Tetralogy of Fallot","primary":false},{"hpoId":"HP:0012471","label":"Thick vermilion border","primary":false},{"hpoId":"HP:0001770","label":"Toe syndactyly","primary":false},{"hpoId":"HP:0001669","label":"Transposition of the great arteries","primary":false},{"hpoId":"HP:0000325","label":"Triangular face","primary":false},{"hpoId":"HP:0005180","label":"Tricuspid regurgitation","primary":false},{"hpoId":"HP:0001704","label":"Tricuspid valve prolapse","primary":false},{"hpoId":"HP:0000122","label":"Unilateral renal agenesis","primary":false},{"hpoId":"HP:0000582","label":"Upslanted palpebral fissure","primary":false},{"hpoId":"HP:0008661","label":"Urethral stenosis","primary":false},{"hpoId":"HP:0000220","label":"Velopharyngeal insufficiency","primary":false},{"hpoId":"HP:0001629","label":"Ventricular septal defect","primary":false},{"hpoId":"HP:0000465","label":"Webbed neck","primary":false},{"hpoId":"HP:0000445","label":"Wide nose","primary":false}],"ledeHtml":"22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2.","mondoId":"MONDO:0012020","records":[{"frequencyKind":"reported","key":"033cad574880cd1363b630857d2575022ad2b71e102757d4bb0d7fba403e06b1","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"04895ba073cae746d3f5744a59eeb043d3e06253cbef6df220af4d2e306d249b","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001704","is_excluded":false,"label":"Tricuspid valve prolapse","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0a3c9fdbda83d835ff86791b8748d34675e07e6cadb69674a6869b48024d4aa9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"104fa292656b488196f230919058c9220ceedb4753a3b17474be28c2a08e3602","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000122","is_excluded":false,"label":"Unilateral renal agenesis","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"13493f23df297239768950a849fb93695a02c365e18f9a3eb0dfe6ded0e667b4","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1354a1b75414a45b9fc6c13c0e374b2f31961bc08bbb725cbe045e26afb7cb27","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1809d3cee4ecf21d9dbc9c75eee65c18de37d22a9e0b9e38e2cafa1b6a0b67f9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1a456cfb9b10db2960e65912b1b959945331fdb75cf39081481600f3ea9540dc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011800","is_excluded":false,"label":"Midface retrusion","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1bd4a42aa455e0c1a8d3b6bc6c46abde5239bef0c1445e6f88cbcc6b5cfe9f8d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1ddf5d45d042eee49c9785aec4ad2c95042b616ac84b9dbebead6aec3f290e3a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1f8d0094890cf93d3ce30bd12b6bacce736bc380ca3feba4aa58a4bddcb6f712","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"20c918339e073aabf3ce9380af227d65f4f5e38455eeda22f091960bf8b9d28b","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001629","is_excluded":false,"label":"Ventricular septal defect","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"26557b528bc233e3276a9b24c681fedee1ac34131ff4be4b90b3b075a73f569a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000280","is_excluded":false,"label":"Coarse facial features","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2784aeb244ec7e45ce19160fc2a61f9e725b84a7a2f9c67183dfe5941c6b7d59","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000220","is_excluded":false,"label":"Velopharyngeal insufficiency","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"289ba313297b25d7a1316d6d29eee1f6017c9a3d5958d347aeca50331397e129","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000588","is_excluded":false,"label":"Optic disc coloboma","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"28e29386403e4df7e8567eb5e8bea85719f526468f611a2c2807939c63f7e538","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002463","is_excluded":false,"label":"Language impairment","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2e70fc046d7b24f66d79d606cd0f5d46fe9f355951cd4a6919b63bcd6cae7838","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000490","is_excluded":false,"label":"Deeply set eye","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"30dae6891e909e4242d9a12eaff43b3c34df1939811cddbd3e3300986bab92b4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000319","is_excluded":false,"label":"Smooth philtrum","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"34243cf3211f358b89626878781ff23ada723137bd9f67d84d64c3e3a5ea9cb3","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"37992ff10e34eefe965d1224bf7f8d6fca51b9160d01a864d64ed42aefae556e","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000508","is_excluded":false,"label":"Ptosis","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3815bffc3b3fb8cdf3b22daca01ebeab7ab15e77aa2c8394930d03401de71f5b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0009795","is_excluded":false,"label":"Branchial fistula","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3997c75849e1bac6765480e0103e8d652ef7fec57200482b64d47ade81c5d07e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3a795429e6b94f29d301031c2bb79cc4a5f33028dc331abf20160a6bc2775226","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3c49905fadc5b1a14f9fab724d86f75b477e45ef3b82aacc238ff78be8c49d25","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3ef9c62799a41ef828ca98fa7773bde1f15c20e76274aac53a115a1c4d0cf993","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000733","is_excluded":false,"label":"Motor stereotypy","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"467e85ce7c13d4ed945420bdcce6ccee025e5f181f50ceed635d236b4fb727b4","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001800","is_excluded":false,"label":"Hypoplastic toenails","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"468f965d1775bd798c0091a43f17696495e1b5d7bdc1cd914c4d984de0e18de3","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010978","is_excluded":false,"label":"Abnormality of immune system physiology","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4b2ca9c3f6295a5ddae983237b23600e00ab4f4f14647280bb3827fd9896b293","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001669","is_excluded":false,"label":"Transposition of the great arteries","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4c568a124bf8b7a3f4a680050c7ff24d298aab89312b944164a3ab64ed0ea110","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"4e27bd47a71176810d173eefd8c6d2b6afa79324afae22e230fd62118a21f42d","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000600","is_excluded":false,"label":"Abnormality of the pharynx","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4f0b6739c2085c8d5a05adb70c4fecd7a9ed0e000aa47837975ac33b5cee266b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000256","is_excluded":false,"label":"Macrocephaly","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4f36547f71c93f42292b365ab51010aeb63a399f1dc5d29d7a3c9768a1fbbb8e","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011039","is_excluded":false,"label":"Abnormal helix morphology","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4fffa07884569ebaaee74c60b203422710d9a0426d04cb8fcd528635514e9dfb","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5089fb268cd9fc9d3d91e8235a6488a36ef583ad7a5e468824ccb3a7c9bb3100","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"514bb09e3ad2847a49edd8bcb0662c72b2524995a6b632d1f0016d6f92343832","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011611","is_excluded":false,"label":"Interrupted aortic arch","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5166674d78d20c8f1eb104da768d8e8c9dca33aa5314e5911cc8fe4cc79d4ed2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"53f2eedb8195ba27f1ab7bcd752d9700b4ceba3c2389e341e3df5c3396241c28","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001182","is_excluded":false,"label":"Tapered finger","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"581d8b838e7054f87a3e945da9643950d8b4b6a87ee8b0063b6feea8ba8c650c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5b19c8f73487051c9f3f9acd7fdd62dd79ed2a0835a2ded96b66858988dd9093","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001611","is_excluded":false,"label":"Hypernasal speech","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5d162682b13faebca2d192d248c087f338c679d2c0b0b299eefe2543381ae7eb","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000445","is_excluded":false,"label":"Wide nose","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5dffe82fe9a05b1a0620a730c57e75851c053586e175ce66ba0fa6efe818a2c7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"63cf5a64cd9d0ebb3cfaf6d05461a79171c26d62f09f6117d43392572b0d419a","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001629","is_excluded":false,"label":"Ventricular septal defect","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"64bae7856ece29166bb8352884b1938f2f4af1e8eed0c9129befe2a4bd6c0dc7","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"67a15f0b71ba838916cf005db1c0385618678d3102476f48b753c7ac902f37bf","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000275","is_excluded":false,"label":"Narrow face","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"685301698ad32396916e9a1f432bae7635c299b7ff3f74f725b5843738167c14","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000960","is_excluded":false,"label":"Sacral dimple","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"68dbc761eb4111c47ca0ed2d1ea776db1b939657a7a3f33041cd4daec85d8c5b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6de95fdacf1da7d4c9c4f1e957d9eb06ae0998c8106dfd47e6ddf4e3226f346a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001836","is_excluded":false,"label":"Camptodactyly of toe","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"718612f3ffb163d434fd8e307bf9413ef1413ea76812287e7ba1a065b55f5f83","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100540","is_excluded":false,"label":"Palpebral edema","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"71ef24751f7b0450cb30bab2ed7f853676f26d711537a944649e71f4a419370a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000414","is_excluded":false,"label":"Bulbous nose","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"721dc5a99282cb004aef493bf87b7626196936c19caf0b735c0893af6cb3a792","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"728b70838ca2a70c6afda7d8f98f885ee17d395fb9db66cd5ea52c418fd61e44","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"741213ed041eec2e1c7c7b47b7a608cafeab3cebe1e671b8f0f785905147ba2b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002167","is_excluded":false,"label":"Abnormal speech pattern","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"748b5f386e42a27c9f0e337fd04c730f2c1e9367f2ea7d9ddcba9823e6ee1d0c","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7655cbf579747e3e84310f97cecd33d936ecdfdb4a4aac6081ec40da96a150fb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000722","is_excluded":false,"label":"Compulsive behaviors","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7ad2707fd1985dfe0dcee03e0617ec8f707f78dcb4256350e7d9b3d4ca588c1d","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0009908","is_excluded":false,"label":"Anterior creases of earlobe","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7eb365be769edbb3d4defb0605be30a6530a879e54390619355e6fa8e8f4f6f1","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000445","is_excluded":false,"label":"Wide nose","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7f3e5c2e41d6943a734b9b447935ee3137a96398fa4726a84a56863574e6014a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100022","is_excluded":false,"label":"Abnormality of movement","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8391a8842291d4d22dd30a3a73b1cd8af8a9e098b9930638dc5ea9e388f62969","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0009738","is_excluded":false,"label":"Abnormal antihelix morphology","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"84b9c967e6e2b16ea5c769813b3f8a5007181f6293ae47e1bdd486c4226d3e52","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012471","is_excluded":false,"label":"Thick vermilion border","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"87ccd8bf39cddce624ddeb26ceb0971c807a8d76e100996ba86b210f71aee9cf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001328","is_excluded":false,"label":"Specific learning disability","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"89df532769f86f093bf453faffd91c496f22517d97f5563ba178f3203cae74eb","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001643","is_excluded":false,"label":"Patent ductus arteriosus","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8adeabf0042afa480f6d33742cac45a5e27e2ef2e0376e460aeba9e59cf0da70","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002162","is_excluded":false,"label":"Low posterior hairline","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"91a06c2efd9028a249ce062abcbe257a64aa934c2badfd0586fbde012ae92e79","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000238","is_excluded":false,"label":"Hydrocephalus","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"94bcb173f1c5305f695046614993aaa6868960d8e1ea0c46c43b5f84bc80b215","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000322","is_excluded":false,"label":"Short philtrum","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"964bce70d5c72d25e7f17301b20c16890e5ad94aef6465cabf45d632818041be","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100627","is_excluded":false,"label":"Displacement of the urethral meatus","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9926853a1cd77b274ca906d77c15e8b1622d3e712ec97aabfc50d04af08b11d4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9a122cc87ee5b0d1f4bf04e1a7eb1207a2af4a21b572eb0b7617073ee7fee27d","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000377","is_excluded":false,"label":"Abnormal pinna morphology","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9a6024e5c86dd6fadaf50ada100b8fb523702804f827f7152b8e05f05c222fb6","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000126","is_excluded":false,"label":"Hydronephrosis","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9b264b0c38d6ece7c95b6c80f5a61a25b99886a9c74204dc72bb4bf28bbc7bc3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9cc0bbca1307da7b3da71f48a7d10ca8a8423f2b6068641434ff8196e2c8dbd3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007018","is_excluded":false,"label":"Attention deficit hyperactivity disorder","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a185384fd6917c65da9e5fbc08f4a711edc31fac2bee3f4875fb5c41f29b9e68","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001618","is_excluded":false,"label":"Dysphonia","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a2d97d43a0760d132c3c888817be26e3ef4fcb35344696c3b974c8eb42253523","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000303","is_excluded":false,"label":"Mandibular prognathia","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a360690e197731429ba05ed7e88c12706bb533ce8795922d01c42826c4098b26","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a3ef1b9f3dbae85eb1853c8b8be5888823d457247aa94e12fe9b2bc60e33ad9d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a457992eb5cbd03d08e5e954c253962b2caf9018987962b28d187acc5870aaca","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a46fee5b6fc66dc500617ed29c1146eb0daaaa5a15afa6284505dc4f5ec65fd2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000348","is_excluded":false,"label":"High forehead","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a51285250d2a853ec79cdb2652925be494cf1e59f6a8a12f43947e5b520fd3fe","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001611","is_excluded":false,"label":"Hypernasal speech","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a606e057340ff7c64bc94f965041d1277e59dbfd0bb8f689c7f91f0a6f6340bd","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a6e2fe813c4d9cd1ec6ee29f4443d748bc705ab614548614d018d2d967530173","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000457","is_excluded":false,"label":"Depressed nasal ridge","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a8d4122d9f05b182bac943a9e95e0a3d105a5795f13a39f16035ed04e9f4a0b4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000319","is_excluded":false,"label":"Smooth philtrum","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ac291790db9fafce934ed8423c664fc69fb7ac7e5209dfd371c4df30407e6d9d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100490","is_excluded":false,"label":"Camptodactyly of finger","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b0db7067d529aa4ee44618785327013ad9cea48d92704c29da86c2eaa9b3b523","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000337","is_excluded":false,"label":"Broad forehead","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b6586dfa0b98673469f627cf3c27bb6e8d2da103e4788812b62ae22d6d3f5851","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010515","is_excluded":false,"label":"Aplasia/Hypoplasia of the thymus","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b72286ae3b1fa7ce0e15a95b0f0b9b1f6d05a5ca7fac705eb0191dff2871d7ac","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"b73d2d2556483b0854e0715a7533d432ab0663c0bb63c1c9a5efe25857659441","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0030680","is_excluded":false,"label":"Abnormal cardiovascular system morphology","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"be0eeefb3df8841ec30c43c4b52a334c58fd9539cb0f5e552dc55222f5de5933","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000325","is_excluded":false,"label":"Triangular face","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bee8cdb36ff11aa6f33349ec5a6917bd82a18bbc961352ecfeb8ac21c4c53249","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c5c2c648fe9e3c879c8cb284860c1d7c301d2ec4c533134a614a3a6b0b0b40b2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c7bad0be474fdc0b2629b6508f27911be64f055c7cd2b72e941fb3ed520f8c40","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000457","is_excluded":false,"label":"Depressed nasal ridge","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c91d1cd37e86c5552ebec19433e59f05da7cf30ef59b525ddecc30b034a31411","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c926c2ea372716deb9289293b3d51fa1732cd7715517899b0e68c31235cc484f","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008661","is_excluded":false,"label":"Urethral stenosis","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ca38b419c3413e40930fe4c51bc77a3ba57370679a8aefd5e75732ec8215ef6e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000582","is_excluded":false,"label":"Upslanted palpebral fissure","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cad28f8d9402219dcfc6361a7a4c5d60e22745c3965df7fec415c46f466ef771","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007018","is_excluded":false,"label":"Attention deficit hyperactivity disorder","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cb3e3a18d09d9882c75446e1b180402e91e7647a1f5eea7922d599331dd907ad","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000343","is_excluded":false,"label":"Long philtrum","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cbeaf63e8171e0db6db3599e61d31593b304be3f9ae3ae9dbe7a94f114976dfd","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004383","is_excluded":false,"label":"Hypoplastic left ventricle","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cfb957c78e3a6dfc5d54acb811d2c8af12f7f671d0693c35c8144c544e4debe2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000158","is_excluded":false,"label":"Macroglossia","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d4f375ff71ce73865bd7832b12b78e0d3181ea91190c962653215d99d41f6f02","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d52ecd04cd23128f8afc52c6a3a0c62d99c643b68b24d7701b966cf4a6f2cb6e","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005180","is_excluded":false,"label":"Tricuspid regurgitation","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d5d0fa9f8d3dbf0232762f26ad61b77a6c1ae6a0a9d0acbc2dfd0d364433b607","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000411","is_excluded":false,"label":"Protruding ear","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dbeb33405279c42f4e8f9cdeb49fc2e5754937a582dd3a128374a02acb6d747c","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"dc57bdd4e76011c946c05bccf3e1aa9daaf1cd593c9423aa168f3451152621f0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"dc8250e0a8f1c88f3daacabdb4569c8868f9a33ffcfce349652e2d32b4c924fa","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dcfd6f9bec811cf409c588c2bdf3cff223ff7af30db1bc103c75d330eed21fc5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000739","is_excluded":false,"label":"Anxiety","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ddc1bfee9336f7b047d265b150d9e4b845f46c6cb7d4878ba9880cc734b0cebe","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004422","is_excluded":false,"label":"Biparietal narrowing","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"de2e2eec62a62cb3ad0537ad99016de1cae99b94c439b2d6b5c6f986377a877e","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002023","is_excluded":false,"label":"Anal atresia","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dfe64b0aca442ea61414bd94af6ede9c2f8bf5cf730de2885502d84059919708","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001770","is_excluded":false,"label":"Toe syndactyly","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e8a6821dd3e1c8d0a4e450aaafa8405e704ebe49aa81d45850c56f29715f4375","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000457","is_excluded":false,"label":"Depressed nasal ridge","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e8cd18156984363d9b5871a782b2c3c3d2a7dde7e26de56dd07c54267fc5a1f3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e8cf992278aa453309c1c4dc70acc1ff69fba10c486493d17280e34dda78866d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"edae91093d00308c5692e794e2ce91c8a0c16f068065d520db76af7957e46267","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001636","is_excluded":false,"label":"Tetralogy of Fallot","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ef5d3dde01856bcbb4261591f3a735a1a7fb159270c3f57d572826ebd8d4f175","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f1abc8b24d75cbb79a53f7487f35b2023912ad5dfdfa6509d8395055c1f3cff1","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f2d9ad7277a7abaf8200335694d5cc197d21d2d2269871096b1ea32ccc69cc43","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1727","disease_name":"22q11.2 duplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000717","is_excluded":false,"label":"Autism","onset_id":null,"reference":"ORPHA:1727","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f3b497d8e0c4274bfc20bace4c47ae315f90cf296bcc506b69e5523c39cd7455","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000465","is_excluded":false,"label":"Webbed neck","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fe6f8bd304ffe4a5bd88ade06690e329ba3490b0c8cd51cd8f426ad149e96694","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:608363","disease_name":"Chromosome 22q11.2 duplication syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"OMIM:608363","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fefb0a53c42f707220a4f0dcc5c486db3223e16226110a9cc10347de284dccf2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:261337","disease_name":"Distal 22q11.2 microduplication syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:261337","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/22q112-duplication\">22q11.2 duplication</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>People with 22q11.2 duplication have an extra copy of some genetic material at position q11.2 on chromosome 22. In most cases, this extra genetic material consists of a sequence of about 3 million DNA building blocks (base pairs), also written as 3 megabases (Mb).</p><p>The 3 Mb duplicated region contains 30 to 40 genes. For many of these genes, little is known about their function. A small percentage of affected individuals have a shorter duplication in the same region. Researchers are working to determine which duplicated genes may contribute to the developmental delay and other problems that sometimes affect people with this condition.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/22q112-duplication/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes 22q11.2 duplication?"},{"bodyHtml":"<p>The features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/22q112-duplication\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"22q112-duplication","sourceDocuments":[{"name":"22q11.2 duplication","reviewed":"2009-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:18:52.926961+00:00","label":"Causes","pageSha256":"6b7a1fe295ff50d33339788cc484ec61d23d9e77ff4f0c934fe48d12acf77f1e","sourceUrl":"https://medlineplus.gov/genetics/condition/22q112-duplication/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/22q112-duplication"}],"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":"22q11.2 duplication"},"schemaVersion":1}