{"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:0007862/OMIM:148820","label":"Waardenburg syndrome, type 3","mondoId":"MONDO:0007862","onsetQualifier":null,"recordKeys":["08d1238f1b9ac745e451dbf32d51da0322fcdc692040c8e7004ebfa1c563220e","100880ca505468b940367e6a303b3cf002cd0bc245099311ea935fef6e96039d","17b29bd4d09d0916ed19ed49493fea6512b4a5bc07091c4ee9725c4f09508c3e","1cb36c35a92d6e3f09ac81678ae901b178167d1f689120a1901ad4089f8b3ae7","230783276d4dd3213bdccc6c60a10e0311016ccf57be6ea20fa9b3df14346538","2785110d6e5d1d2d9ad15cd63f9c53790e8c30000b1a67f492f30565e63ef347","2c09f9ce8dc85403f0213c6ad5f9fd5de3b677cf96c12b99dabb56c3c3566c6d","3a862f37250a3e88bf314bebc06fb855db07d68eb94fc624d335fcc89f9f4f98","460234838d1f1c9281b45bf779e374cdaf11f877281f03f2b68770819b43ae7b","461d0b12d6b7e0b99100d17034761da76834335f44d2f2c5499148a29156356c","46abf3ad887c470e6b1d4e73417c6c735574c86d8ca5d3345421b70bf30486d9","4da2ae47405e6748332969684cda9666ad5e3065962507c7dd9c097a17aa9af7","50205ae6916958305429f73a6676dacf37e54b5ab054e4af486511bbca17128b","6a2a6e452b37ecd7b7715e9ea8cdbd0b606d2555c69782dc229840332f283ad6","6ad25511685bf7f1eda9c49e4b5b82eb74a43ed7452105fbcc9a493621dff91a","7436f0757a828db5a5998be7f1d0b48db6502d491471037a1a56f7bee83ccaa3","752e937c3be867ca05028a35ce788029fb2743fb032585de5a5761959d912171","776b10d30a9ddaf4b40a038177aaa684e0e2efa31df562ffab34ac546f7142bd","78dffe99e4f356d5ece41e5763175a51ea51caee7cd3268009bff67793c80393","8984edfa314d00c10c7a0deffe5aa5a5468023fc817b6798094392221c6c69ac","8987e40e91d9316123beff875262d19367299571f2634f49747706f744f458f8","8f1d8170b4da7dff7a857a0d543b5fa28bb287a7eed2db2a164f17e100c9a5bd","92b973a1b090d9c8c5e89658a5e6f2e5798b63ec4a472ebad2b192d3932825f0","969805d89d808e374acd8976d7cec9a1eac3442762c509de9e161802542cd725","96a2a7c115793a372737bcab08ab87d86494fdeb74ad557f337ba8b1efee0dd0","98d8bab4b741116a9e098ef7dc7ff833d281f3f5452bfd0756392d66fb02494e","a7cea9ff7706d2eb48dcf781ed6a9ecc89b426d0e15d2ada7604061df39ddb5a","c077734416b594cf38bb1585f55d6cd01d1892ba5809dca081cbda5b3c7b4ea6","c8b32d72d7c7dbb83cc6c5525cda79d01a9331da6f93563175cab0e273cf8539","d6d6f03845113fe86250092c2181bd7d4fcb7aa8c7015f52c604bb90288c2ede","d6eece747658623f7d2bd681e09cde1e9324869e60d162545b5a535ce90a47fc","e641add42ea9f1b7b52e91bb0a731f980ccb8e67dc02a755aec877fe60f7335c","e7c6e5e978d98f2c3b2cd4e4e6c3b540a8c97615b7b1fbed45e931928110654e","e7c70ac0e4f96475ecdea2d3f69880ecb677ea3ef5714eed505686cc042bc05f","ea46c729977a08cfe404bb5478bf05dc6fe79c3b347fcaeb5111d839a44c28f8","f1fec862591d308efda41f050ca4461181e14606db26e5da89e332df725674c2"],"recordQualifiers":{},"scopeLabel":"OMIM:148820","sourceIds":["OMIM:148820"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0008670/OMIM:193500","label":"Waardenburg syndrome, type 1","mondoId":"MONDO:0008670","onsetQualifier":null,"recordKeys":["09007bc6eb1daefededf60bd27a3b98ba88186ab003a8b01285ddefbceccf62f","0d663ff12a161b58fb7fdaf7e7224c2710782a394c13adb2aab10eefeaa5b842","217cfd9c12dda3ac5979acafdf06d35a61e17d779454095aa0915afc5f5c9259","2b186d7ee1575e2f5a4d90cf9245838a253220bf6697e90911cd74dfd957cc6b","2dbcc413b3486ef494c41f009c722a8e027c3088fb5d85203fb80691926e4581","2dfb36b9bd2c861ec7d258e50a00f640da1ec486acec4732db6da5988361e334","314836a65e6067457b4a40da1c0e7383080381731f68314ab8df6e9473eccfb8","3808302bf9f66ed5b45d0e308fc73cdef35f90cae3575ddc46fab557e8bf6128","3d8c1888fae0bbdc89ffb8424bcb6765acebbc8e42734a4c530a523abb7dccbc","68f54390779d58d2345a47dc6440a767f41c60e58b340921b723b96279ddfb67","6cd357d40cd2d96a40c356482d3f0a7fff422d0608e134c48762bf2a44b5ff08","6d19d57aa29fc397f4062adce69a9e8259e84636e00b5b62bbb343b9a2bb27be","6ee0d4440b44e48742091042cc4d22147be832fdd91330ffa33ecb4473e52198","6f9e62b2e59cfd707085a372e9bb1de3b2095d74426b0a8e8f9a1c20a9a633a3","7682d5992868dc20c2d34a467a150adf31f38de60f4ddf026fb38fb08a3456a2","8c41123890595e6e46ef8f606701edbf6d02e9e75dd6eecb0a5f07d43fe96332","98cd8fb2550e85816ed66261ae05ce9fac2861551997b961d2d10cd51505523b","a56e3a1ed84d51940fedde7c9a12a39b7f06ceeab352da4fe60c7bfb248a5c66","a7459f5b012cc7f3b9536c6307d9e776a7c2ecefe144e7d802c1e44989e56de1","b2cd2a97e35c867f8c0ca7bc3e1a85e7296ce3e00931c7989b9014bb4ed19076","c4364827aa7e692dbf4ca6e5248f5ecc22812323e2392f53cefe94ca37d4d9c7","c721d19bc10ba0dce354e3d7c40b8ac75107627477c9b662eefe8e238fa25409","cfbbbb46884497a8d873bd5d97f1a5e3a795c8518fabac9ee497e745e4d7cd17","d0c951d04dc568fe5193c833edbafa635eb53f4aeb0944441b9f8e87d9bf3dcb","d4a10ace5e3beaa9efa41d0d68ce90fe8bef9abf106f626f940870ba7f4c298c","de2735892358f684a4ccc39109f58adee85c5349350e762c267f6f2d591bb10f"],"recordQualifiers":{},"scopeLabel":"OMIM:193500","sourceIds":["OMIM:193500"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0008671/OMIM:193510","label":"Waardenburg syndrome, type 2A","mondoId":"MONDO:0008671","onsetQualifier":null,"recordKeys":["0ec017c13485964aedf78864f77dee28c10036137702fd3b4a85c686ccafe9bf","3ad9f8163bc8aeae52937bc695c87256465e385c962297a3807359941f099489","7e3856c8ebf6ebf6a342b26a92e5bc4123471a0ce23661ca1a2c8d15e4b9f9e8","856d0f26bc1a676dbcb1a5a1030d0505227c323cc753be52d54941bae030ecf7","862524912b60e32262c61dea1c2d00b4521aa44ff80b488d4f0f9308498041c9","86aa2ff2466db8e3ff08944d39cd0a5ffaf7392e30dd949ca825bb712d8f48c0","8d289abe0b1a381c445dcf40c36318644774ef32ca3ed0e873a7ce87792df9d7","a78f8fa2a7df9063667f057d373d5668c4c964a1689990e13ba98082af82dcf5","a8401c87ff31c50c93d9a2f071b3f27828d4a2f0d1124559d7bc3427e7a9a826","b44feda265e89c345fe6c7b12d743e4f23a45e69352c54b9d5af59214ee10cfb","b6416e20107247b76a346b11964666df6f91fa0fb5cd165fceaaa18d9d7bfee9","d368945bea27f7a3442e8df925db413f206fbe1317ae1ce6b3502a5be0ef04b3","dbe5c7477dbdb8ac3c45fc5087ab950c92f1719b8788070680c9041780ad0363"],"recordQualifiers":{},"scopeLabel":"OMIM:193510","sourceIds":["OMIM:193510"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010192/OMIM:277580","label":"Waardenburg-Shah syndrome","mondoId":"MONDO:0010192","onsetQualifier":null,"recordKeys":["00202979738dfcbaf0c7c16e3f6ffb9b1d8276a36010e3368a967668af8fafc3","031fb8125fd6402340ffe1afa6c7d6fd2addc039c5cd9746345d7eadc3fe8423","07a91a589883de221fc50217ae8072dbf161639668bc856dfa94a403bda31cd5","41b0bc39d058894eb4e9636948e84b6dcda8265a778401076d38d52182d7539b","503c6ac99c66e633f8b05e936c6261936df665875b34aca277725790c073be3e","53b5cec4f7acda91d3a73ca1d6d113b67031fde84151917a701ac425191c5baf","6fb744a0b94c274faa197db4503c6495ef85329b3e44ae3b19952fb094a596e0","76806530eee655912cbfd3b8e2558fc2751f6d26e63b10114c1af067035b2662","78092a94770ba1af26937ffd459b1519ab5a7573c872b8f38a5e96295564d4c5","83fee3d91bae99eaca8cb6c27aa1d2f13753149edbf90da3baf9e5acd6e6fc81","a2d0ad34a65add06508dd60964866b56d0e2a3a55a322bcdd22dceeccaab20dc","a514ac4189fc535baf7efeac958c4b9c30abd53e231999dd8c8405c9fbbeb255","ca8c9e990f58f4a2dd8374082a33925c5a7419ea78d0373c602e66d42b26abe9","d6cc295ba8b57432456a2c0edd76c54c61316f60200ae5ab29d62c713aab6ebc","d843bb6dd7dbccdf3b1c4a76df6b7ca06d1f53d9550917ba158eb30431bf5a80","f32c1a06677f0a636b642deb2f1d3512f1a099c772e2e54a108ed0ba95da4b04"],"recordQualifiers":{},"scopeLabel":"OMIM:277580","sourceIds":["OMIM:277580"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010841/OMIM:600193","label":"Waardenburg syndrome, type IIB","mondoId":"MONDO:0010841","onsetQualifier":null,"recordKeys":["0a22423d888e8385a9a6a9bd4e1c4e6cf8c331c8bd5876315b072e9304f70535","4b58b700c983590b4f872cffc87fe20587ea9170902e47ea86c6693b41126ea6","5b28c479c7ba9e492f8bac4ee58594b6e9ae1067f4e5000e8a2ba6af57403f6b","61e4c54e05e387d1c55fb56c3e85c4a27357840d8dd5e997d983cf87a336ba78","79e0f9841128bbcc076730c44c2c10f89903479521787fcaceff28c474f50b23","8202b44f039781aed8619c6f322cb93bffd0fb954aa4b4f7f23d19e312d5afc4"],"recordQualifiers":{},"scopeLabel":"OMIM:600193","sourceIds":["OMIM:600193"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0012698/OMIM:611584","label":"Waardenburg syndrome, type 2E","mondoId":"MONDO:0012698","onsetQualifier":null,"recordKeys":["0d132f0668cdcecba23893888b27eb62e0aea43bce6769788b0045bed332ea83","15337633def82621e60780b891399aa72f5874ddcf7602ab6bbd31b5a524958b","19d1f85fc75afd189919a3e29add736816b330233fc0ef3e02a8046e05e40526","1de71f10a5a1a704198aaa7ad53ef07ecd45e852c476572065ecc88b2cc2f7bb","28cff419dbbac14d641aec042061e5c98de4a6c0a080aaad00a9d49484d56135","2fef4b2bf4a476d2675399e4be53009dd0197653cb83a759e78e0a181ccdfa61","3382a03689191b77465391dd1b0ebdb23ca4bc3fd1126fc122482fd2df19cba6","5757488dd93c989a25308ba39aa5df2a32273591d78a7447b473478c6c61ac97","6bd8093573666dc718cb1f3ef381604391d0b9e97b6bc62bf86ba4396ccde6ba","6fbdd7f1f69124b4808beef79d2186ca50b6da629017bd1264c91199f1a2a2cc","730088075b1a9e9e01b5b9e206a2f09a61887bab6d38716b006c7177ec0cef65","7a95e739d001dab4e78d764894ce28a899f707bf519546b43a535d37c84cc1c2","83cc3c4502a52f78d72a18eb67b57d33573cd51cc5e844782d8cb693025ae7b0","9273b97a7394c45b53e8e958587cfbdc89ff00ceccbb2b86f56f2e8c33bc788b","ad6f0d725db4fca8f3d1f4e6749f7231e44ad468cad623e9fe02cda9a3c858d0","b1f4732e0bc2c605c5956b78e4adaffdefa7d8740f61cdabe2f3b82dc33e4871","ba2f67ba6df4672e4054de145b9637e2615a3f8c29f641eaa24eb25e0e9dea43","bc86198dec0168e5e2cd7f4a1f9d119623f4f74c4dc89de184580b50ca499f1d","bed562ba7818f6b629ab455b1a0f55c83fb02c687c1ec6bf8646083c2fd20ebc","bf84f7ac81867bb5b54faae45bd94ffd82cf6c501d2ebdb48bc63792cd37f2cf","c0b866f0059d234c8d93f833482f97f4c9e2ac5c77cf68850e807c30324557bb","c2609462d8fbdd9e5aad4efa1075acd8a371b7cfd4511d78b4729df64d40aa66","d3bdf81894834222b921323c5a938ccad317907a5561c3ff3c9db40116ebc5d3","dfa674350241ab316972b36f25b863035a79071d608bbdb08161fddd9fc92957","ecaced772efca22907a833d686a3ffe6d5e9fb2c93507f9695b54bf25baa2b8e","eed2587455bdba4ab1d3683ddbae53ab8b9eaffd326425badf19d504184b2984"],"recordQualifiers":{},"scopeLabel":"OMIM:611584","sourceIds":["OMIM:611584"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0013201/OMIM:613265","label":"Waardenburg syndrome, type 4B","mondoId":"MONDO:0013201","onsetQualifier":null,"recordKeys":["0c827b56f77dc2ee774a0ebba88ae4e608be9246a8b32be6dd5843c5529a62c1","249b1428b1a2e67ced02b4e22434541a45a300ae3b3c4fc8f15a229373468e93","94756c89c3322e8899e78c41444c4aefce932751abf46e194b0fb751d51d7998","9da9a87dece0f55cc2d788734ba300df03b849683845e47daa8e304f8f976dd3","c107ec453b5aa92c11cb20b5d94e2f91bc3440161d5fbbc2db7b452bad5143ca","c1f397bf1b5cba5e2c3773565885fdccc988002764068fe87fb0d35b19e7a898","ce934ca4a51a33fdc09fc99de37eb8608fdb700401dc2905fb9b3e5e9d885fd2","e7102aaa31d747cddcd88f83b15771a3c4d70aaabad8e70d3d3d41868c7158f6","ee05ec6ee1f6eab17ebed1adce472af28092c29f3dd28013fdd92a4eb7f3674b"],"recordQualifiers":{},"scopeLabel":"OMIM:613265","sourceIds":["OMIM:613265"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0013202/OMIM:613266","label":"Waardenburg syndrome, type 4C","mondoId":"MONDO:0013202","onsetQualifier":null,"recordKeys":["22b25c2c94ce49c6865edfff9cc5cec2445c233d174dbcd85603725fbe30b180","256286bec8177cd4f8f8720cefc4e6c0a356898555a303454107eee50fa9d3b6","506839a8d5c37e35da64af10fc34e735635b98de7d8344c2fb8a0aca56044d4d","64010b670b7fae74a8111d1f875719bb61f307ebb7b421f48875deaa96414550","657a89014b7653adecf689191f6ed4deb4f0a7d61537be43d449b29f5dcffc60","674c9bba9d44bcbc4ea58a86d508f9de2903532a443b15b034a6b3cca0e6ea79","96c2f3e2104dc5d3ce4ffac1ff7fb8991938522c430f5d5af01e96ccd8f5a269","b132a5e563db7998f44bbcbc69714ea46dec6016741c5da7a856132bd646ac0a","b971de99873c06f12105132ad0172149c645dcfee86f56e430e3483a09acb3a8","bc03ee096f425d0f225916a214fb4c6705dd3c1b44456124df4d02a24e45236e","c96d60b83cf169ed0f85fe7a4cd65732a45278f13f93ee5fa791ea8f031f95ec","e69246dca43cd458a24c8a14fefeb741daf35faac0977f90f1e0ad475895dde4","f427892269d2fa0d8b2ba90185351e18fe81e539ea28a4e98318088712b13bde"],"recordQualifiers":{},"scopeLabel":"OMIM:613266","sourceIds":["OMIM:613266"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0030983/OMIM:619947","label":"Waardenburg syndrome, type 2F","mondoId":"MONDO:0030983","onsetQualifier":null,"recordKeys":["1bb58c4ba0fe5d99e2beb9dde0429107150bafdab2207db42b2669eedb9845f6","2ab18ba97bb943cc933b14104bf03b1b42d322a484b8dc71085da5a476988b31","2ea0d7f97a8d3c6628e0e92f9b17181655427cb43e9f9c8e14d24e05322c2413","46400f2248e5ba65f504032a4210e09534476ce009ce0ef2320626b487d8a67c","56e7d56ff9850fc18c9bd7651c46fc48cb382a71aef62c6fa131c2b63f658672","6c5c0ff3d97315d092fa62f4be0bffbd8eb9fd26a42792ddb1c8a45198a36812","7103b916e33332ac5e767350aa7a670640f1fa72e5d2e7905ad75c68dbea88b2","9b37cedfd52bf17884413b5344cf0549bcfe4a4a5fbca883b02a157a6e667b93","b3970011198ab7b7a151611bc15ad72c88adeb53f7aac3e67b2b671098827d17","ce4b4aa97181c459e80aaf96af51fa54a4c5d6da90e89872f0021de70376744c","e02871841152edc769734835eaec8dd512dbc02f04ac9aac4e1221927edb17c0"],"recordQualifiers":{},"scopeLabel":"OMIM:619947","sourceIds":["OMIM:619947"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0018094/ORPHA:3440","label":"Waardenburg syndrome","mondoId":"MONDO:0018094","onsetQualifier":null,"recordKeys":["02c78b2bbca0a3aab4db515bdbf67ae1304c2eeaed50445aa981350656fdd923","0d229b830bff4ff8f7f6e79a359111cebabf105fdc3f4ff9733e76de300025be","1eea3d9f710188b3286cb3356f90aa137223dab8ca6a9b5a079da0faa81572f4","2029be080fabd274608a19d0e6e78991512ef059ba74ba9a9310edc3d0466074","328aaa6b3d26a7570288d37ab459963739288c28b4e2bb9683688488794b11e4","3a182be757df995b75beccb9717e88af2a0530711f8df64e1f485b6fdaf961f6","4270058bd99f61e0509ac0d9e085007dbdae42d726e0c9d4ca69d0e76dcee5e7","4d6b6f339ca1aff3f8cc1f1494517e289c9bf7e84344d86516ba24b98ec7b3ec","54e295b31b882dadd7b87f20d99880a519ed9c1526c1aed1a9dd7d1eac97711a","57ec69823cd03669f28b9051375b62786c74dd627d3489a9c550d62a4a568642","5d113295696705c5f7a2c07b83b1128cf5620ee9c50217df66bdd8085ef697dc","68c735368e62e7ef58ba6e5814d08f80ce5a70b8f9b58e4287001a0c77bfd2a4","752a464a0ff1d35c9876f70f08bb1fdeca183b7f32c074a41c658aae0e7ebcd5","86abdc5626bd910b7da045628816a622d3b0f9de653ec2fa6c1d8e94ae23199d","8a38f4af6af37f68869e1b34a4ff49c709e53f954c324678b5f2b307c9722832","8e9165efbb82dac5d982e028b8e306134991ab6403fb082818251597bc6929ce","98b898fa0d549c29b19b69281e58d4b4fd7a6f6185b84976353b7359023bfaff","9d41e4bb6db0b567fc290f97f67ff13895674073e771a1fa961a865fd27955ac","a895c502a97abe1a57c152afa52f1f9785df17f4d1b5abfa13b328087b1dc479","abef4af247e0426d2d6778297b8dcaead9e564266b4652f75fc03f5f0a01c09e","acf17f5d245fed82b54f49b1b158ee3997a2e2c04dd887f2f6c0845ccd5c2c22","b541aa351876e7476d132f92d09bfc0c8eea4dce8349f3e735c61ee448c315e2","b9161bfbf9d8da4bd18f0ad780983a8cbbeed40ec2e4b7804d341355ee61ef8f","bf10e5eda5ed550e9a8b290a93b91328b479174a35d7a02ab518479afb40c1c4","c342b288585f442813ac02dfeade060542d71b0ca2ca16196c2189d758d80c2b","c54fa07cf240a0da3478ea99b75b2e09b5fe4ac5970536686ad95f18a5a67c00","c55593dac4332813128d795ac1541370b3db02c7f70553019378c06bab656fba","c66b0e8c5dd4ceb29c7724ce4bd93747b677adacbddddfcd9b570e1d3ce08a8b","cb513ba4b9f5864dbb9deb8b6ec0a2b54574e5f77a1fb588602b6676ba39f51a","ce7b999fdf7b36d3219a27c79e10166a096fb1a2a7a732c0805840c89f01c84f","f77411671dc8af4e1daf6fe8d19b5eeb920230925800603e5aeec0cf34176589","fa8b106f6f1aadd5a40911ba3aeb8baf99ea4cfd31b3954e52ff64ca4215332c"],"recordQualifiers":{},"scopeLabel":"ORPHA:3440","sourceIds":["ORPHA:3440"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0008670/ORPHA:894","label":"Waardenburg syndrome type 1","mondoId":"MONDO:0008670","onsetQualifier":null,"recordKeys":["03db73065eb01d18533f5b9783bca9268a90d813d7523ff3b633fa60db6e118e","0da1176eb9260b53739f3856034f4c4941e001e78e112c9817c2b2588ad328a0","11e9716a80e9e08abd97a76550e07939f5871b44045d6e5b9f3f9faf440a83ad","1c027889a043ccfab8206466485697d6a20f0bc939b3a9c552791d87bdeaf896","1d10de9e39691ede6d0c5613b24a168c4ad224043e3031b8386242a22f15f69f","23f5ca0954997e2e84e975465f6a7de23eab778b3da7d89755b46b78a9fc54c6","25491a6590b161f85578376efc873ce9635f86ff89d48bc1bb7661ecc30a3686","3f83294d97bde21a58787e239fe1be6e444dc75e735c9cb61a81b0638b8822f8","42572f13d93c1d798df3a1abe36995a80c12a6808464762250e337609cb6b59d","4311a3007df69adfc6f74c578e75665667b903c7f5080f3a0cf99d12f5b3b8f9","454d7eca7d02933a2630bbc4c60a485a0e4a9cb0523f6041a3a6babe5afc4365","47199b48a83657efa373d143463e86820a2eede6f6c4932ac03e535926df331a","6113bacc5edfe3f39129fb183e2ae77858a9499a4b0bfa3006a708c3da7838ab","675aa07cb59d56dbc28fa8e00c7dac7656ccef306b7cf5e217102cdf7db25022","684fa091245ab1f77a1a523044964f814651773f99651b27b9c8082872098296","68c94b0d5f49db91c5af87e22ffdff3ff425fd80b538fc16213a9c49902724df","72169ccd148cd80f98cb9e7a766d736974800a4da77f67a9eaadfc1c6be4fdb0","9e0759f83d7135d66f8c60a30aa88b9da92f301d089d113fa442ad4767f10b81","a03000ec29830c7f3fbca505cd795ff7664754a46628c6de9855bcc31336eb33","a0c199f273fc90a82a75ee61f84d4559f6bcfc20009550cec03e6fe8620228f8","a884a137a85122db349d3387cd42201ebe699b2ca2ce7cd9902ed7f895b0347c","acb6d1a01cd446ce12747e28a940710d662251c6343a1dcb0cbde962b8812f1a","b4b7eaed3043943c4d1d8e625c595df99a926826dff63960ed0a9630e5ea6f34","c3e23bcc0d75e789a541fa14f87a8b0a2cf2e14a26ca4a51eb36b7938d149af6","c8fd72cb2536e2246d9e597535c74879e84f21ed2aa022f51e9db1e2defabc3b","d3729c1a0a1984fbe6e0b73f0f10848c5745612e7a1db53565c206cc719d7627","d40f33c73d14ecdee9b18485ee48d52098c7a67da02a1fd3371c2490c859e3ce","df6af95320fea886fbad5455c1328c8d8d6fb319e584f7807abcb870eabe5115","e5326a4bded97ea3041bd9e53e7229dd5fb9757fa1f38d03585c912ca350ee27","f77a821f56f170b84004e5f0f005149d85045461ad7785262fa4af549ac28bea","f879b5195dc1e233969b3294ffbf4273b521ab87eb3237da24083f8a7369edf3","fbecf6501f371f863a05d5e61bcffe2b5b4d54953df1dd16124b817278ff9cc6"],"recordQualifiers":{},"scopeLabel":"ORPHA:894","sourceIds":["ORPHA:894"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0019517/ORPHA:895","label":"Waardenburg syndrome type 2","mondoId":"MONDO:0019517","onsetQualifier":null,"recordKeys":["13b334814a5e3a340df24c2edf546a562a36f4a42cb69100e1a7ecad9b3c2631","2ecbc95434ab9e547e785a23136d169519adbe5e74357967a8da713f6c4af804","2f225f16d73d8a1e901cd6bbdaa16b9eb4531bff45760dddaa1a518c99008b21","36ec18bfa3703d8a3e8e3dfb009d4310c2fc2fcdabae91a741f4e9724681ec5d","3a4b350062d13888ac5c352f83884f537cab526a85129218f8e78ce1897ad018","b29a15a13ed74d164156491ff25233cb33a902dc2e4ee5a3b8decf317eec3d80","d01aa1cf40f46ccd2aefa06394f7be14f9b5fcdc844ae4dd58fe520ae25baf44","de6c05a4c5734e24677ee1ad814ddba36b9da1e3e2d9152a2c7262fde3ef73ec","e79912a6a37a23bf86db636719d471e6ea3468757abfed62809556056a279d56","e85500a724374582418873355e964029a51a7619304ab392878636c4009ee676","ebc07a28e9b092b202af37ffc9de19f08d550d3efc98a22f1a5e0f95c6940ec1","f9d18766aa1097866fb0ddda2a3867627a871378091c3d75f70cd76eb6da4de7"],"recordQualifiers":{},"scopeLabel":"ORPHA:895","sourceIds":["ORPHA:895"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0007862/ORPHA:896","label":"Waardenburg syndrome type 3","mondoId":"MONDO:0007862","onsetQualifier":null,"recordKeys":["122ae9f3e248d83a1d4627d3bb7ee95ff43a4ebefc0140c200ffac27f2b8e7a9","15581a74822a867c3b4b6093a3215cd9ea0b010e2435ec94e8b402c4247e6de7","17741eac88f5180dba4ba04b5fedea4ecb5f80950cf0a80bc7161105ab206721","1879770d32755c0c0a3407f9fd219d4e460d1b53f016f720dfb75cb059902d09","4e1c71131c1d43f6990b908cbe1b8e2d160c2cdfe9ae2a8b7b4c085191bbf839","4f94fa19b91ae43be85d6508b177308c0bf3e2552c390a383f81673e4650ebf9","6341478740fbb412cf19ccaa69b6aa7bed410d85dd1307b55fc7daae11799226","67336df8ac37a6a1b47fdea4a38304392cc8af2dfe851988842b639b313d2bb0","772682cc4cf2d3d68bcdb88e926903c9870a7a7ecfc4857d909233d3de1e9584","79988a65b173d0ba904067444ff68625210b56e827fd7b7c1fb8e2a9ef4675d5","84866ee93041c3a25e4df437988fc739d9cd0660428648fb4d02a1e3fce09d68","87221b81776e962449176962499ec322683f7407d52bc460057dee3662f55e9d","96ae1914330705b3ae4ab373652e3e0072b1d000f5358655700c79a9fce98f2e","9d00c824eef39c339c1eef60cd34606b44962af38852981c269c05dfdd07ac61","b309a1cd97d1335bffc43474a246427ae6f49fb3726bcdb84190960190272d19","bd8e7df78e0e0c9ef5ef13331ecf9825accdbbc19c39a5a3a285c647fe962e7d","c20ca0e4dea87d460ca85a16053719c8c37a5c5f03173e98f768f3ee1aa27d0c","d6bd8d7d00c9d8ea0c65f957b51c23b8a5794c1d67660f8a0401bd377922f5fe","dd1b273fbaa78f35c929bb9e3599c6b1e9824f1f136d80e51c0d1a06004b5727","e318c97044eab92dd283126c02518073f4634f89c8e53fd04a757872eff94640","ee0eb8e8d1de1e12a79ac457fc19d0ac4485f08210995714d0250f5692d48290","f4ae32704db891bb04eb75cdab1b4b6154b10eef0735b4a64bf4b42716aec074"],"recordQualifiers":{},"scopeLabel":"ORPHA:896","sourceIds":["ORPHA:896"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0019518/ORPHA:897","label":"Waardenburg-Shah syndrome","mondoId":"MONDO:0019518","onsetQualifier":null,"recordKeys":["11b76b07297b1b74c7b4e332047447f1f090dfdea331bcb95a902fa5397cfe17","366ad77f809113b75394038fdc0790bb8b4c9f7fcd8e0aebd4fdbccb7218a15d","42bfb64bbf7ab44624cd44687fdfde8d8e81ff9d44f023f29045192b6e321ec8","44a536c8e5e29b2e22f3f432deb50355d11d8e17bcb1a83e6fd6e9847eabcaab","55a2b5fe7aecd486e84b951d50770e3b8adde31ebfab1832561056c59115dc5e","5e95a556ed70dfe79c9ec4544e5b617d93a7bac7bcc6c8cec26886d528dd94ae","64867e0236c871a9f4322d7989756b69e82e729dbd95fee13284bd24938ec0b8","668d20a0a72367d912c39378ce7e112af373d548df8867882135133561cf6e3a","6e6113495f953c272956e8fa24202291369cbdb4b0c75197c80eadef94eb48cd","708d9fb6a0a58b89cd6db2c41b8504aaa18aaaf7cbad7a68a9e5a96c411076f0","720363d6e518bbd7884dcc19e36cbb5adcfc654443f53f28cadd2febc504f5dc","7ff80c60dcca31d017aeec6c8d61d05821cc7e40400b47a3a1d4fa9ac585605f","92aba2c2db3c8bb16718315a3b25652093ae344438913aef689e498d4b2449a5","9b85a454ad84edab4fe205654e7bbc20447c43fe2088b0adeefbc896360cd7f5","acc993093c1bbb5f080745a3f7c2d0a4e3163edf93419682ea63ad286874fb7d","b334f8a32bb48435a4cd076c6b2c7aec44140c71f101727bb8315d0941a18d5f","b8a23ec092c1d0f675c4856184f6715dffb66d88e4eb78de534d4d58fe79e7db","cdde2e1d8c38e405d622389fe59338f945747766bbfc6464e4a5bebe6eb750dd","d5f8becf49dad29804713846b7556a8b7138291871fd8dbe82607032b7089305","e6efbb81c2d635e00cf6be07264dbf82466122da453b1aaff461d39643fc5b3e","e92384e8a4fc560b4a6b4a00eb45477a9d9540898b7c0a8003a8d86f3001a685","f3515c390cea165cbd9c2cbf965cebd7337fb3fc5df368c257dfd61341658076","f7bb3da7c9a47e43fe58a26f0d5bb3d2dbaf1114f5626016014e34f9a41d8dca"],"recordQualifiers":{},"scopeLabel":"ORPHA:897","sourceIds":["ORPHA:897"],"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:0007862/OMIM:148820","MONDO:0008670/OMIM:193500","MONDO:0008671/OMIM:193510","MONDO:0010192/OMIM:277580"],"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":52,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":277,"sourceGroups":{"omim":104,"orphanet":121,"published":52}},"features":[{"hpoId":"HP:0002027","label":"Abdominal pain","primary":false},{"hpoId":"HP:0030680","label":"Abnormal cardiovascular system morphology","primary":false},{"hpoId":"HP:0000534","label":"Abnormal eyebrow morphology","primary":false},{"hpoId":"HP:0001999","label":"Abnormal facial shape","primary":false},{"hpoId":"HP:0001167","label":"Abnormal finger morphology","primary":false},{"hpoId":"HP:0001595","label":"Abnormal hair morphology","primary":false},{"hpoId":"HP:0002242","label":"Abnormal intestine morphology","primary":false},{"hpoId":"HP:0001103","label":"Abnormal macular morphology","primary":false},{"hpoId":"HP:0011376","label":"Abnormal morphology of the vestibule of the inner ear","primary":false},{"hpoId":"HP:0007703","label":"Abnormal retinal pigmentation","primary":false},{"hpoId":"HP:0001000","label":"Abnormal skin pigmentation","primary":false},{"hpoId":"HP:0000478","label":"Abnormality of the eye","primary":false},{"hpoId":"HP:0000271","label":"Abnormality of the face","primary":false},{"hpoId":"HP:0011024","label":"Abnormality of the gastrointestinal tract","primary":false},{"hpoId":"HP:0000077","label":"Abnormality of the kidney","primary":false},{"hpoId":"HP:0000366","label":"Abnormality of the nose","primary":false},{"hpoId":"HP:0004414","label":"Abnormality of the pulmonary artery","primary":false},{"hpoId":"HP:0002817","label":"Abnormality of the upper limb","primary":false},{"hpoId":"HP:0000504","label":"Abnormality of vision","primary":false},{"hpoId":"HP:0001063","label":"Acrocyanosis","primary":false},{"hpoId":"HP:0002251","label":"Aganglionic megacolon","primary":false},{"hpoId":"HP:0001022","label":"Albinism","primary":false},{"hpoId":"HP:0000458","label":"Anosmia","primary":false},{"hpoId":"HP:0011381","label":"Aplasia of the semicircular canal","primary":false},{"hpoId":"HP:0003250","label":"Aplasia of the vagina","primary":false},{"hpoId":"HP:0100811","label":"Aplasia/Hypoplasia of the colon","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0100750","label":"Atelectasis","primary":false},{"hpoId":"HP:0001631","label":"Atrial septal defect","primary":false},{"hpoId":"HP:0008936","label":"Axial hypotonia","primary":false},{"hpoId":"HP:0001060","label":"Axillary pterygium","primary":false},{"hpoId":"HP:0012453","label":"Bilateral wrist flexion contracture","primary":false},{"hpoId":"HP:0000581","label":"Blepharophimosis","primary":false},{"hpoId":"HP:0000635","label":"Blue irides","primary":false},{"hpoId":"HP:0001156","label":"Brachydactyly","primary":false},{"hpoId":"HP:0000957","label":"Cafe-au-lait spot","primary":false},{"hpoId":"HP:0012385","label":"Camptodactyly","primary":false},{"hpoId":"HP:0100490","label":"Camptodactyly of finger","primary":false},{"hpoId":"HP:0009702","label":"Carpal synostosis","primary":false},{"hpoId":"HP:0006808","label":"Cerebral hypomyelination","primary":false},{"hpoId":"HP:0000175","label":"Cleft palate","primary":false},{"hpoId":"HP:0000204","label":"Cleft upper lip","primary":false},{"hpoId":"HP:0030084","label":"Clinodactyly","primary":false},{"hpoId":"HP:0008527","label":"Congenital sensorineural hearing impairment","primary":false},{"hpoId":"HP:0002019","label":"Constipation","primary":false},{"hpoId":"HP:0000028","label":"Cryptorchidism","primary":false},{"hpoId":"HP:0010554","label":"Cutaneous finger syndactyly","primary":false},{"hpoId":"HP:0010862","label":"Delayed fine motor development","primary":false},{"hpoId":"HP:0011379","label":"Dilated vestibule of the inner ear","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0034391","label":"Elbow contracture","primary":false},{"hpoId":"HP:0000537","label":"Epicanthus inversus","primary":false},{"hpoId":"HP:0012785","label":"Flexion contracture of finger","primary":false},{"hpoId":"HP:0007894","label":"Fundus hypopigmentation","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0001100","label":"Heterochromia iridis","primary":false},{"hpoId":"HP:0001034","label":"Hypermelanotic macule","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0001276","label":"Hypertonia","primary":false},{"hpoId":"HP:0000135","label":"Hypogonadism","primary":false},{"hpoId":"HP:0005599","label":"Hypopigmentation of hair","primary":false},{"hpoId":"HP:0001010","label":"Lighter skin pigmentation","primary":false},{"hpoId":"HP:0001053","label":"Hypopigmented skin patches","primary":false},{"hpoId":"HP:0007676","label":"Hypoplasia of the iris","primary":false},{"hpoId":"HP:0011382","label":"Hypoplasia of the semicircular canal","primary":false},{"hpoId":"HP:0007990","label":"Hypoplastic iris stroma","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0005214","label":"Intestinal obstruction","primary":false},{"hpoId":"HP:0007730","label":"Iris hypopigmentation","primary":false},{"hpoId":"HP:0009473","label":"Joint contracture of the hand","primary":false},{"hpoId":"HP:0001387","label":"Joint stiffness","primary":false},{"hpoId":"HP:0007732","label":"Lacrimal gland hypoplasia","primary":false},{"hpoId":"HP:0000632","label":"Lacrimation abnormality","primary":false},{"hpoId":"HP:0002415","label":"Leukodystrophy","primary":false},{"hpoId":"HP:0000303","label":"Mandibular prognathia","primary":false},{"hpoId":"HP:0002435","label":"Meningocele","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0002475","label":"Myelomeningocele","primary":false},{"hpoId":"HP:0009933","label":"Narrow naris","primary":false},{"hpoId":"HP:0000446","label":"Narrow nasal bridge","primary":false},{"hpoId":"HP:0007587","label":"Numerous pigmented freckles","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0001107","label":"Ocular albinism","primary":false},{"hpoId":"HP:0001341","label":"Olfactory lobe agenesis","primary":false},{"hpoId":"HP:0000202","label":"Orofacial cleft","primary":false},{"hpoId":"HP:0007443","label":"Partial albinism","primary":false},{"hpoId":"HP:0000767","label":"Pectus excavatum","primary":false},{"hpoId":"HP:0009830","label":"Peripheral neuropathy","primary":false},{"hpoId":"HP:0001271","label":"Polyneuropathy","primary":false},{"hpoId":"HP:0000358","label":"Posteriorly rotated ears","primary":false},{"hpoId":"HP:0002216","label":"Premature graying of hair","primary":false},{"hpoId":"HP:0000426","label":"Prominent nasal bridge","primary":false},{"hpoId":"HP:0005274","label":"Prominent nasal tip","primary":false},{"hpoId":"HP:0000508","label":"Ptosis","primary":false},{"hpoId":"HP:0003691","label":"Shoulder blades sticking out (scapular winging)","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0000407","label":"Sensorineural hearing loss","primary":false},{"hpoId":"HP:0003196","label":"Short nose","primary":false},{"hpoId":"HP:0012745","label":"Short palpebral fissure","primary":false},{"hpoId":"HP:0000319","label":"Smooth philtrum","primary":false},{"hpoId":"HP:0002313","label":"Spastic paraparesis","primary":false},{"hpoId":"HP:0001258","label":"Spastic paraplegia","primary":false},{"hpoId":"HP:0002414","label":"Spina bifida","primary":false},{"hpoId":"HP:0000912","label":"Sprengel anomaly","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0005815","label":"Supernumerary ribs","primary":false},{"hpoId":"HP:0002946","label":"Supernumerary vertebrae","primary":false},{"hpoId":"HP:0000664","label":"Synophrys","primary":false},{"hpoId":"HP:0005048","label":"Synostosis of carpal bones","primary":false},{"hpoId":"HP:0000506","label":"Telecanthus","primary":false},{"hpoId":"HP:0010804","label":"Tented upper lip vermilion","primary":false},{"hpoId":"HP:0000574","label":"Thick eyebrow","primary":false},{"hpoId":"HP:0002779","label":"Tracheomalacia","primary":false},{"hpoId":"HP:0000430","label":"Underdeveloped nasal alae","primary":false},{"hpoId":"HP:0009129","label":"Upper limb amyotrophy","primary":false},{"hpoId":"HP:0002617","label":"Vascular dilatation","primary":false},{"hpoId":"HP:0002321","label":"Vertigo","primary":false},{"hpoId":"HP:0008568","label":"Vestibular areflexia","primary":false},{"hpoId":"HP:0002226","label":"White eyebrow","primary":false},{"hpoId":"HP:0002227","label":"White eyelashes","primary":false},{"hpoId":"HP:0002211","label":"White forelock","primary":false},{"hpoId":"HP:0011364","label":"White hair","primary":false},{"hpoId":"HP:0000431","label":"Wide nasal bridge","primary":false}],"ledeHtml":"Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.","mondoId":"MONDO:0018094","records":[{"frequencyKind":"reported","key":"00202979738dfcbaf0c7c16e3f6ffb9b1d8276a36010e3368a967668af8fafc3","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001100","is_excluded":false,"label":"Heterochromia iridis","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"02c78b2bbca0a3aab4db515bdbf67ae1304c2eeaed50445aa981350656fdd923","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001053","is_excluded":false,"label":"Hypopigmented skin patches","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"031fb8125fd6402340ffe1afa6c7d6fd2addc039c5cd9746345d7eadc3fe8423","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002211","is_excluded":false,"label":"White forelock","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"03db73065eb01d18533f5b9783bca9268a90d813d7523ff3b633fa60db6e118e","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000574","is_excluded":false,"label":"Thick eyebrow","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"07a91a589883de221fc50217ae8072dbf161639668bc856dfa94a403bda31cd5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002415","is_excluded":false,"label":"Leukodystrophy","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"08d1238f1b9ac745e451dbf32d51da0322fcdc692040c8e7004ebfa1c563220e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000303","is_excluded":false,"label":"Mandibular prognathia","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"09007bc6eb1daefededf60bd27a3b98ba88186ab003a8b01285ddefbceccf62f","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007443","is_excluded":false,"label":"Partial albinism","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0a22423d888e8385a9a6a9bd4e1c4e6cf8c331c8bd5876315b072e9304f70535","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:600193","disease_name":"Waardenburg syndrome, type IIB","evidence":"PCS","frequency_raw":"0/36","hpo_id":"HP:0000506","is_excluded":true,"label":"Telecanthus","onset_id":null,"reference":"PMID:7951321","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0c827b56f77dc2ee774a0ebba88ae4e608be9246a8b32be6dd5843c5529a62c1","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:613265","disease_name":"Waardenburg syndrome, type 4B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002216","is_excluded":false,"label":"Premature graying of hair","onset_id":null,"reference":"OMIM:613265","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0d132f0668cdcecba23893888b27eb62e0aea43bce6769788b0045bed332ea83","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002617","is_excluded":false,"label":"Vascular dilatation","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0d229b830bff4ff8f7f6e79a359111cebabf105fdc3f4ff9733e76de300025be","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002216","is_excluded":false,"label":"Premature graying of hair","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0d663ff12a161b58fb7fdaf7e7224c2710782a394c13adb2aab10eefeaa5b842","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005815","is_excluded":false,"label":"Supernumerary ribs","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0da1176eb9260b53739f3856034f4c4941e001e78e112c9817c2b2588ad328a0","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0ec017c13485964aedf78864f77dee28c10036137702fd3b4a85c686ccafe9bf","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:193510","disease_name":"Waardenburg syndrome, type 2A","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001022","is_excluded":false,"label":"Albinism","onset_id":"HP:0003577","reference":"OMIM:193510","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"100880ca505468b940367e6a303b3cf002cd0bc245099311ea935fef6e96039d","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0007443","is_excluded":false,"label":"Partial albinism","onset_id":null,"reference":"PMID:12949970;PMID:7726174","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"11b76b07297b1b74c7b4e332047447f1f090dfdea331bcb95a902fa5397cfe17","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007703","is_excluded":false,"label":"Abnormal retinal pigmentation","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"11e9716a80e9e08abd97a76550e07939f5871b44045d6e5b9f3f9faf440a83ad","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000478","is_excluded":false,"label":"Abnormality of the eye","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"122ae9f3e248d83a1d4627d3bb7ee95ff43a4ebefc0140c200ffac27f2b8e7a9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010804","is_excluded":false,"label":"Tented upper lip vermilion","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"13b334814a5e3a340df24c2edf546a562a36f4a42cb69100e1a7ecad9b3c2631","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:895","disease_name":"Waardenburg syndrome type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002211","is_excluded":false,"label":"White forelock","onset_id":null,"reference":"ORPHA:895","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"15337633def82621e60780b891399aa72f5874ddcf7602ab6bbd31b5a524958b","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002211","is_excluded":false,"label":"White forelock","onset_id":null,"reference":"PMID:18627047","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"15581a74822a867c3b4b6093a3215cd9ea0b010e2435ec94e8b402c4247e6de7","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002779","is_excluded":false,"label":"Tracheomalacia","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"17741eac88f5180dba4ba04b5fedea4ecb5f80950cf0a80bc7161105ab206721","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000446","is_excluded":false,"label":"Narrow nasal bridge","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"17b29bd4d09d0916ed19ed49493fea6512b4a5bc07091c4ee9725c4f09508c3e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0012785","is_excluded":false,"label":"Flexion contracture of finger","onset_id":null,"reference":"PMID:12949970;PMID:7726174","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1879770d32755c0c0a3407f9fd219d4e460d1b53f016f720dfb75cb059902d09","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100490","is_excluded":false,"label":"Camptodactyly of finger","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"19d1f85fc75afd189919a3e29add736816b330233fc0ef3e02a8046e05e40526","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0011381","is_excluded":false,"label":"Aplasia of the semicircular canal","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1bb58c4ba0fe5d99e2beb9dde0429107150bafdab2207db42b2669eedb9845f6","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:619947","disease_name":"Waardenburg syndrome, type 2F","evidence":"PCS","frequency_raw":"3/6","hpo_id":"HP:0002211","is_excluded":false,"label":"White forelock","onset_id":null,"reference":"PMID:35543077","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1c027889a043ccfab8206466485697d6a20f0bc939b3a9c552791d87bdeaf896","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000632","is_excluded":false,"label":"Lacrimation abnormality","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1cb36c35a92d6e3f09ac81678ae901b178167d1f689120a1901ad4089f8b3ae7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009473","is_excluded":false,"label":"Joint contracture of the hand","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1d10de9e39691ede6d0c5613b24a168c4ad224043e3031b8386242a22f15f69f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002435","is_excluded":false,"label":"Meningocele","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1de71f10a5a1a704198aaa7ad53ef07ecd45e852c476572065ecc88b2cc2f7bb","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002216","is_excluded":false,"label":"Premature graying of hair","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1eea3d9f710188b3286cb3356f90aa137223dab8ca6a9b5a079da0faa81572f4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012385","is_excluded":false,"label":"Camptodactyly","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2029be080fabd274608a19d0e6e78991512ef059ba74ba9a9310edc3d0466074","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000534","is_excluded":false,"label":"Abnormal eyebrow morphology","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"217cfd9c12dda3ac5979acafdf06d35a61e17d779454095aa0915afc5f5c9259","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"22b25c2c94ce49c6865edfff9cc5cec2445c233d174dbcd85603725fbe30b180","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613266","disease_name":"Waardenburg syndrome, type 4C","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000458","is_excluded":false,"label":"Anosmia","onset_id":null,"reference":"OMIM:613266","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"230783276d4dd3213bdccc6c60a10e0311016ccf57be6ea20fa9b3df14346538","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0009933","is_excluded":false,"label":"Narrow naris","onset_id":null,"reference":"PMID:12949970","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"23f5ca0954997e2e84e975465f6a7de23eab778b3da7d89755b46b78a9fc54c6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"249b1428b1a2e67ced02b4e22434541a45a300ae3b3c4fc8f15a229373468e93","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:613265","disease_name":"Waardenburg syndrome, type 4B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"OMIM:613265","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"25491a6590b161f85578376efc873ce9635f86ff89d48bc1bb7661ecc30a3686","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003196","is_excluded":false,"label":"Short nose","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"256286bec8177cd4f8f8720cefc4e6c0a356898555a303454107eee50fa9d3b6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613266","disease_name":"Waardenburg syndrome, type 4C","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007732","is_excluded":false,"label":"Lacrimal gland hypoplasia","onset_id":null,"reference":"OMIM:613266","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2785110d6e5d1d2d9ad15cd63f9c53790e8c30000b1a67f492f30565e63ef347","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002226","is_excluded":false,"label":"White eyebrow","onset_id":null,"reference":"PMID:12949970;PMID:7726174","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"28cff419dbbac14d641aec042061e5c98de4a6c0a080aaad00a9d49484d56135","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0011382","is_excluded":false,"label":"Hypoplasia of the semicircular canal","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2ab18ba97bb943cc933b14104bf03b1b42d322a484b8dc71085da5a476988b31","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:619947","disease_name":"Waardenburg syndrome, type 2F","evidence":"PCS","frequency_raw":"3/7","hpo_id":"HP:0011364","is_excluded":false,"label":"White hair","onset_id":null,"reference":"PMID:35543077;PMID:28504826","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2b186d7ee1575e2f5a4d90cf9245838a253220bf6697e90911cd74dfd957cc6b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000303","is_excluded":false,"label":"Mandibular prognathia","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"2c09f9ce8dc85403f0213c6ad5f9fd5de3b677cf96c12b99dabb56c3c3566c6d","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000664","is_excluded":false,"label":"Synophrys","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2dbcc413b3486ef494c41f009c722a8e027c3088fb5d85203fb80691926e4581","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"PCS","frequency_raw":"3/5","hpo_id":"HP:0002216","is_excluded":false,"label":"Premature graying of hair","onset_id":null,"reference":"PMID:33747040","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2dfb36b9bd2c861ec7d258e50a00f640da1ec486acec4732db6da5988361e334","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000202","is_excluded":false,"label":"Orofacial cleft","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2ea0d7f97a8d3c6628e0e92f9b17181655427cb43e9f9c8e14d24e05322c2413","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:619947","disease_name":"Waardenburg syndrome, type 2F","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000957","is_excluded":false,"label":"Cafe-au-lait spot","onset_id":null,"reference":"PMID:28504826","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2ecbc95434ab9e547e785a23136d169519adbe5e74357967a8da713f6c4af804","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:895","disease_name":"Waardenburg syndrome type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004414","is_excluded":false,"label":"Abnormality of the pulmonary artery","onset_id":null,"reference":"ORPHA:895","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2f225f16d73d8a1e901cd6bbdaa16b9eb4531bff45760dddaa1a518c99008b21","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:895","disease_name":"Waardenburg syndrome type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000077","is_excluded":false,"label":"Abnormality of the kidney","onset_id":null,"reference":"ORPHA:895","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2fef4b2bf4a476d2675399e4be53009dd0197653cb83a759e78e0a181ccdfa61","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0011379","is_excluded":false,"label":"Dilated vestibule of the inner ear","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"314836a65e6067457b4a40da1c0e7383080381731f68314ab8df6e9473eccfb8","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000574","is_excluded":false,"label":"Thick eyebrow","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"328aaa6b3d26a7570288d37ab459963739288c28b4e2bb9683688488794b11e4","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011024","is_excluded":false,"label":"Abnormality of the gastrointestinal tract","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3382a03689191b77465391dd1b0ebdb23ca4bc3fd1126fc122482fd2df19cba6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001276","is_excluded":false,"label":"Hypertonia","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"366ad77f809113b75394038fdc0790bb8b4c9f7fcd8e0aebd4fdbccb7218a15d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000366","is_excluded":false,"label":"Abnormality of the nose","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"36ec18bfa3703d8a3e8e3dfb009d4310c2fc2fcdabae91a741f4e9724681ec5d","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:895","disease_name":"Waardenburg syndrome type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001100","is_excluded":false,"label":"Heterochromia iridis","onset_id":null,"reference":"ORPHA:895","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3808302bf9f66ed5b45d0e308fc73cdef35f90cae3575ddc46fab557e8bf6128","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"PCS","frequency_raw":"8/8","hpo_id":"HP:0000664","is_excluded":false,"label":"Synophrys","onset_id":null,"reference":"PMID:33747040;PMID:34456975","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3a182be757df995b75beccb9717e88af2a0530711f8df64e1f485b6fdaf961f6","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000664","is_excluded":false,"label":"Synophrys","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3a4b350062d13888ac5c352f83884f537cab526a85129218f8e78ce1897ad018","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:895","disease_name":"Waardenburg syndrome type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001053","is_excluded":false,"label":"Hypopigmented skin patches","onset_id":null,"reference":"ORPHA:895","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3a862f37250a3e88bf314bebc06fb855db07d68eb94fc624d335fcc89f9f4f98","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001053","is_excluded":false,"label":"Hypopigmented skin patches","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"3ad9f8163bc8aeae52937bc695c87256465e385c962297a3807359941f099489","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:193510","disease_name":"Waardenburg syndrome, type 2A","evidence":"PCS","frequency_raw":"3/8","hpo_id":"HP:0002211","is_excluded":false,"label":"White forelock","onset_id":null,"reference":"PMID:7874167","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"3d8c1888fae0bbdc89ffb8424bcb6765acebbc8e42734a4c530a523abb7dccbc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000581","is_excluded":false,"label":"Blepharophimosis","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3f83294d97bde21a58787e239fe1be6e444dc75e735c9cb61a81b0638b8822f8","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000508","is_excluded":false,"label":"Ptosis","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"41b0bc39d058894eb4e9636948e84b6dcda8265a778401076d38d52182d7539b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002313","is_excluded":false,"label":"Spastic paraparesis","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"42572f13d93c1d798df3a1abe36995a80c12a6808464762250e337609cb6b59d","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005599","is_excluded":false,"label":"Hypopigmentation of hair","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4270058bd99f61e0509ac0d9e085007dbdae42d726e0c9d4ca69d0e76dcee5e7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000506","is_excluded":false,"label":"Telecanthus","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"42bfb64bbf7ab44624cd44687fdfde8d8e81ff9d44f023f29045192b6e321ec8","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002027","is_excluded":false,"label":"Abdominal pain","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4311a3007df69adfc6f74c578e75665667b903c7f5080f3a0cf99d12f5b3b8f9","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002226","is_excluded":false,"label":"White eyebrow","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"44a536c8e5e29b2e22f3f432deb50355d11d8e17bcb1a83e6fd6e9847eabcaab","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001103","is_excluded":false,"label":"Abnormal macular morphology","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"454d7eca7d02933a2630bbc4c60a485a0e4a9cb0523f6041a3a6babe5afc4365","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002227","is_excluded":false,"label":"White eyelashes","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"460234838d1f1c9281b45bf779e374cdaf11f877281f03f2b68770819b43ae7b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000426","is_excluded":false,"label":"Prominent nasal bridge","onset_id":null,"reference":"PMID:12949970;PMID:7726174","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"461d0b12d6b7e0b99100d17034761da76834335f44d2f2c5499148a29156356c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001156","is_excluded":false,"label":"Brachydactyly","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"46400f2248e5ba65f504032a4210e09534476ce009ce0ef2320626b487d8a67c","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:619947","disease_name":"Waardenburg syndrome, type 2F","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000635","is_excluded":false,"label":"Blue irides","onset_id":null,"reference":"PMID:28504826","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"46abf3ad887c470e6b1d4e73417c6c735574c86d8ca5d3345421b70bf30486d9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000581","is_excluded":false,"label":"Blepharophimosis","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"47199b48a83657efa373d143463e86820a2eede6f6c4932ac03e535926df331a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000204","is_excluded":false,"label":"Cleft upper lip","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4b58b700c983590b4f872cffc87fe20587ea9170902e47ea86c6693b41126ea6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:600193","disease_name":"Waardenburg syndrome, type IIB","evidence":"PCS","frequency_raw":"0/36","hpo_id":"HP:0001999","is_excluded":true,"label":"Abnormal facial shape","onset_id":null,"reference":"PMID:7951321","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"4d6b6f339ca1aff3f8cc1f1494517e289c9bf7e84344d86516ba24b98ec7b3ec","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000431","is_excluded":false,"label":"Wide nasal bridge","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4da2ae47405e6748332969684cda9666ad5e3065962507c7dd9c097a17aa9af7","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002216","is_excluded":false,"label":"Premature graying of hair","onset_id":null,"reference":"PMID:7726174","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"4e1c71131c1d43f6990b908cbe1b8e2d160c2cdfe9ae2a8b7b4c085191bbf839","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4f94fa19b91ae43be85d6508b177308c0bf3e2552c390a383f81673e4650ebf9","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001063","is_excluded":false,"label":"Acrocyanosis","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"50205ae6916958305429f73a6676dacf37e54b5ab054e4af486511bbca17128b","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002211","is_excluded":false,"label":"White forelock","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"503c6ac99c66e633f8b05e936c6261936df665875b34aca277725790c073be3e","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002226","is_excluded":false,"label":"White eyebrow","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"506839a8d5c37e35da64af10fc34e735635b98de7d8344c2fb8a0aca56044d4d","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:613266","disease_name":"Waardenburg syndrome, type 4C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"OMIM:613266","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"53b5cec4f7acda91d3a73ca1d6d113b67031fde84151917a701ac425191c5baf","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001053","is_excluded":false,"label":"Hypopigmented skin patches","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"54e295b31b882dadd7b87f20d99880a519ed9c1526c1aed1a9dd7d1eac97711a","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008527","is_excluded":false,"label":"Congenital sensorineural hearing impairment","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"55a2b5fe7aecd486e84b951d50770e3b8adde31ebfab1832561056c59115dc5e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000430","is_excluded":false,"label":"Underdeveloped nasal alae","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"56e7d56ff9850fc18c9bd7651c46fc48cb382a71aef62c6fa131c2b63f658672","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:619947","disease_name":"Waardenburg syndrome, type 2F","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000506","is_excluded":false,"label":"Telecanthus","onset_id":null,"reference":"PMID:28504826","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"5757488dd93c989a25308ba39aa5df2a32273591d78a7447b473478c6c61ac97","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"57ec69823cd03669f28b9051375b62786c74dd627d3489a9c550d62a4a568642","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002475","is_excluded":false,"label":"Myelomeningocele","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"5b28c479c7ba9e492f8bac4ee58594b6e9ae1067f4e5000e8a2ba6af57403f6b","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:600193","disease_name":"Waardenburg syndrome, type IIB","evidence":"PCS","frequency_raw":"36/36","hpo_id":"HP:0001100","is_excluded":false,"label":"Heterochromia iridis","onset_id":null,"reference":"PMID:7951321","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5d113295696705c5f7a2c07b83b1128cf5620ee9c50217df66bdd8085ef697dc","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5e95a556ed70dfe79c9ec4544e5b617d93a7bac7bcc6c8cec26886d528dd94ae","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000504","is_excluded":false,"label":"Abnormality of vision","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6113bacc5edfe3f39129fb183e2ae77858a9499a4b0bfa3006a708c3da7838ab","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000506","is_excluded":false,"label":"Telecanthus","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"61e4c54e05e387d1c55fb56c3e85c4a27357840d8dd5e997d983cf87a336ba78","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:600193","disease_name":"Waardenburg syndrome, type IIB","evidence":"PCS","frequency_raw":"36/36","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"PMID:7951321","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6341478740fbb412cf19ccaa69b6aa7bed410d85dd1307b55fc7daae11799226","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001387","is_excluded":false,"label":"Joint stiffness","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"64010b670b7fae74a8111d1f875719bb61f307ebb7b421f48875deaa96414550","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:613266","disease_name":"Waardenburg syndrome, type 4C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001053","is_excluded":false,"label":"Hypopigmented skin patches","onset_id":null,"reference":"OMIM:613266","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"64867e0236c871a9f4322d7989756b69e82e729dbd95fee13284bd24938ec0b8","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002227","is_excluded":false,"label":"White eyelashes","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"657a89014b7653adecf689191f6ed4deb4f0a7d61537be43d449b29f5dcffc60","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:613266","disease_name":"Waardenburg syndrome, type 4C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002211","is_excluded":false,"label":"White forelock","onset_id":null,"reference":"OMIM:613266","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"668d20a0a72367d912c39378ce7e112af373d548df8867882135133561cf6e3a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000426","is_excluded":false,"label":"Prominent nasal bridge","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"67336df8ac37a6a1b47fdea4a38304392cc8af2dfe851988842b639b313d2bb0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005048","is_excluded":false,"label":"Synostosis of carpal bones","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"674c9bba9d44bcbc4ea58a86d508f9de2903532a443b15b034a6b3cca0e6ea79","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:613266","disease_name":"Waardenburg syndrome, type 4C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002226","is_excluded":false,"label":"White eyebrow","onset_id":null,"reference":"OMIM:613266","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"675aa07cb59d56dbc28fa8e00c7dac7656ccef306b7cf5e217102cdf7db25022","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0010804","is_excluded":false,"label":"Tented upper lip vermilion","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"684fa091245ab1f77a1a523044964f814651773f99651b27b9c8082872098296","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002216","is_excluded":false,"label":"Premature graying of hair","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"68c735368e62e7ef58ba6e5814d08f80ce5a70b8f9b58e4287001a0c77bfd2a4","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000635","is_excluded":false,"label":"Blue irides","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"68c94b0d5f49db91c5af87e22ffdff3ff425fd80b538fc16213a9c49902724df","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001595","is_excluded":false,"label":"Abnormal hair morphology","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"68f54390779d58d2345a47dc6440a767f41c60e58b340921b723b96279ddfb67","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000319","is_excluded":false,"label":"Smooth philtrum","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"6a2a6e452b37ecd7b7715e9ea8cdbd0b606d2555c69782dc229840332f283ad6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"6ad25511685bf7f1eda9c49e4b5b82eb74a43ed7452105fbcc9a493621dff91a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0030084","is_excluded":false,"label":"Clinodactyly","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"6bd8093573666dc718cb1f3ef381604391d0b9e97b6bc62bf86ba4396ccde6ba","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001053","is_excluded":false,"label":"Hypopigmented skin patches","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"6c5c0ff3d97315d092fa62f4be0bffbd8eb9fd26a42792ddb1c8a45198a36812","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:619947","disease_name":"Waardenburg syndrome, type 2F","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0008527","is_excluded":false,"label":"Congenital sensorineural hearing impairment","onset_id":null,"reference":"PMID:28504826","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6cd357d40cd2d96a40c356482d3f0a7fff422d0608e134c48762bf2a44b5ff08","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"PCS","frequency_raw":"8/8","hpo_id":"HP:0000431","is_excluded":false,"label":"Wide nasal bridge","onset_id":null,"reference":"PMID:33747040;PMID:34456975","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6d19d57aa29fc397f4062adce69a9e8259e84636e00b5b62bbb343b9a2bb27be","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"PCS","frequency_raw":"3/8","hpo_id":"HP:0002211","is_excluded":false,"label":"White forelock","onset_id":null,"reference":"PMID:33747040;PMID:34456975","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6e6113495f953c272956e8fa24202291369cbdb4b0c75197c80eadef94eb48cd","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005214","is_excluded":false,"label":"Intestinal obstruction","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6ee0d4440b44e48742091042cc4d22147be832fdd91330ffa33ecb4473e52198","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002414","is_excluded":false,"label":"Spina bifida","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"6f9e62b2e59cfd707085a372e9bb1de3b2095d74426b0a8e8f9a1c20a9a633a3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000912","is_excluded":false,"label":"Sprengel anomaly","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"6fb744a0b94c274faa197db4503c6495ef85329b3e44ae3b19952fb094a596e0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001271","is_excluded":false,"label":"Polyneuropathy","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"6fbdd7f1f69124b4808beef79d2186ca50b6da629017bd1264c91199f1a2a2cc","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"708d9fb6a0a58b89cd6db2c41b8504aaa18aaaf7cbad7a68a9e5a96c411076f0","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002211","is_excluded":false,"label":"White forelock","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7103b916e33332ac5e767350aa7a670640f1fa72e5d2e7905ad75c68dbea88b2","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:619947","disease_name":"Waardenburg syndrome, type 2F","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0002216","is_excluded":false,"label":"Premature graying of hair","onset_id":null,"reference":"PMID:35543077","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"720363d6e518bbd7884dcc19e36cbb5adcfc654443f53f28cadd2febc504f5dc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000431","is_excluded":false,"label":"Wide nasal bridge","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"72169ccd148cd80f98cb9e7a766d736974800a4da77f67a9eaadfc1c6be4fdb0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000912","is_excluded":false,"label":"Sprengel anomaly","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"730088075b1a9e9e01b5b9e206a2f09a61887bab6d38716b006c7177ec0cef65","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0006808","is_excluded":false,"label":"Cerebral hypomyelination","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7436f0757a828db5a5998be7f1d0b48db6502d491471037a1a56f7bee83ccaa3","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001100","is_excluded":false,"label":"Heterochromia iridis","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"752a464a0ff1d35c9876f70f08bb1fdeca183b7f32c074a41c658aae0e7ebcd5","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002211","is_excluded":false,"label":"White forelock","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"752e937c3be867ca05028a35ce788029fb2743fb032585de5a5761959d912171","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002227","is_excluded":false,"label":"White eyelashes","onset_id":null,"reference":"PMID:12949970;PMID:7726174","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"76806530eee655912cbfd3b8e2558fc2751f6d26e63b10114c1af067035b2662","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000635","is_excluded":false,"label":"Blue irides","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7682d5992868dc20c2d34a467a150adf31f38de60f4ddf026fb38fb08a3456a2","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002226","is_excluded":false,"label":"White eyebrow","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"772682cc4cf2d3d68bcdb88e926903c9870a7a7ecfc4857d909233d3de1e9584","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"776b10d30a9ddaf4b40a038177aaa684e0e2efa31df562ffab34ac546f7142bd","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000358","is_excluded":false,"label":"Posteriorly rotated ears","onset_id":null,"reference":"PMID:12949970","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"78092a94770ba1af26937ffd459b1519ab5a7573c872b8f38a5e96295564d4c5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"78dffe99e4f356d5ece41e5763175a51ea51caee7cd3268009bff67793c80393","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"79988a65b173d0ba904067444ff68625210b56e827fd7b7c1fb8e2a9ef4675d5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"79e0f9841128bbcc076730c44c2c10f89903479521787fcaceff28c474f50b23","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:600193","disease_name":"Waardenburg syndrome, type IIB","evidence":"PCS","frequency_raw":"36/36","hpo_id":"HP:0002216","is_excluded":false,"label":"Premature graying of hair","onset_id":null,"reference":"PMID:7951321","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7a95e739d001dab4e78d764894ce28a899f707bf519546b43a535d37c84cc1c2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000458","is_excluded":false,"label":"Anosmia","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7e3856c8ebf6ebf6a342b26a92e5bc4123471a0ce23661ca1a2c8d15e4b9f9e8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:193510","disease_name":"Waardenburg syndrome, type 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000430","is_excluded":false,"label":"Underdeveloped nasal alae","onset_id":null,"reference":"OMIM:193510","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7ff80c60dcca31d017aeec6c8d61d05821cc7e40400b47a3a1d4fa9ac585605f","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005599","is_excluded":false,"label":"Hypopigmentation of hair","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8202b44f039781aed8619c6f322cb93bffd0fb954aa4b4f7f23d19e312d5afc4","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:600193","disease_name":"Waardenburg syndrome, type IIB","evidence":"PCS","frequency_raw":"36/36","hpo_id":"HP:0002211","is_excluded":false,"label":"White forelock","onset_id":null,"reference":"PMID:7951321","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"83cc3c4502a52f78d72a18eb67b57d33573cd51cc5e844782d8cb693025ae7b0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"83fee3d91bae99eaca8cb6c27aa1d2f13753149edbf90da3baf9e5acd6e6fc81","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"84866ee93041c3a25e4df437988fc739d9cd0660428648fb4d02a1e3fce09d68","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010554","is_excluded":false,"label":"Cutaneous finger syndactyly","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"856d0f26bc1a676dbcb1a5a1030d0505227c323cc753be52d54941bae030ecf7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:193510","disease_name":"Waardenburg syndrome, type 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000431","is_excluded":false,"label":"Wide nasal bridge","onset_id":null,"reference":"OMIM:193510","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"862524912b60e32262c61dea1c2d00b4521aa44ff80b488d4f0f9308498041c9","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193510","disease_name":"Waardenburg syndrome, type 2A","evidence":"PCS","frequency_raw":"4/14","hpo_id":"HP:0001100","is_excluded":false,"label":"Heterochromia iridis","onset_id":null,"reference":"PMID:34323021;PMID:7874167","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"86aa2ff2466db8e3ff08944d39cd0a5ffaf7392e30dd949ca825bb712d8f48c0","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:193510","disease_name":"Waardenburg syndrome, type 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000664","is_excluded":false,"label":"Synophrys","onset_id":null,"reference":"OMIM:193510","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"86abdc5626bd910b7da045628816a622d3b0f9de653ec2fa6c1d8e94ae23199d","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001000","is_excluded":false,"label":"Abnormal skin pigmentation","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"87221b81776e962449176962499ec322683f7407d52bc460057dee3662f55e9d","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000574","is_excluded":false,"label":"Thick eyebrow","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8984edfa314d00c10c7a0deffe5aa5a5468023fc817b6798094392221c6c69ac","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000506","is_excluded":false,"label":"Telecanthus","onset_id":null,"reference":"PMID:12949970;PMID:7726174","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8987e40e91d9316123beff875262d19367299571f2634f49747706f744f458f8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0009129","is_excluded":false,"label":"Upper limb amyotrophy","onset_id":null,"reference":"PMID:12949970;PMID:7726174","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8a38f4af6af37f68869e1b34a4ff49c709e53f954c324678b5f2b307c9722832","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001100","is_excluded":false,"label":"Heterochromia iridis","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8c41123890595e6e46ef8f606701edbf6d02e9e75dd6eecb0a5f07d43fe96332","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"PCS","frequency_raw":"7/8","hpo_id":"HP:0000635","is_excluded":false,"label":"Blue irides","onset_id":null,"reference":"PMID:33747040;PMID:34456975","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8d289abe0b1a381c445dcf40c36318644774ef32ca3ed0e873a7ce87792df9d7","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:193510","disease_name":"Waardenburg syndrome, type 2A","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002226","is_excluded":false,"label":"White eyebrow","onset_id":null,"reference":"OMIM:193510","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8e9165efbb82dac5d982e028b8e306134991ab6403fb082818251597bc6929ce","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0034391","is_excluded":false,"label":"Elbow contracture","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8f1d8170b4da7dff7a857a0d543b5fa28bb287a7eed2db2a164f17e100c9a5bd","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000431","is_excluded":false,"label":"Wide nasal bridge","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"9273b97a7394c45b53e8e958587cfbdc89ff00ceccbb2b86f56f2e8c33bc788b","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000957","is_excluded":false,"label":"Cafe-au-lait spot","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"92aba2c2db3c8bb16718315a3b25652093ae344438913aef689e498d4b2449a5","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002242","is_excluded":false,"label":"Abnormal intestine morphology","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"92b973a1b090d9c8c5e89658a5e6f2e5798b63ec4a472ebad2b192d3932825f0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0010554","is_excluded":false,"label":"Cutaneous finger syndactyly","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"94756c89c3322e8899e78c41444c4aefce932751abf46e194b0fb751d51d7998","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:613265","disease_name":"Waardenburg syndrome, type 4B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002211","is_excluded":false,"label":"White forelock","onset_id":null,"reference":"OMIM:613265","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"969805d89d808e374acd8976d7cec9a1eac3442762c509de9e161802542cd725","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003691","is_excluded":false,"label":"Scapular winging","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"96a2a7c115793a372737bcab08ab87d86494fdeb74ad557f337ba8b1efee0dd0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000537","is_excluded":false,"label":"Epicanthus inversus","onset_id":null,"reference":"PMID:12949970","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"96ae1914330705b3ae4ab373652e3e0072b1d000f5358655700c79a9fce98f2e","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"96c2f3e2104dc5d3ce4ffac1ff7fb8991938522c430f5d5af01e96ccd8f5a269","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:613266","disease_name":"Waardenburg syndrome, type 4C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002216","is_excluded":false,"label":"Premature graying of hair","onset_id":null,"reference":"OMIM:613266","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"98b898fa0d549c29b19b69281e58d4b4fd7a6f6185b84976353b7359023bfaff","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002251","is_excluded":false,"label":"Aganglionic megacolon","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"98cd8fb2550e85816ed66261ae05ce9fac2861551997b961d2d10cd51505523b","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0008527","is_excluded":false,"label":"Congenital sensorineural hearing impairment","onset_id":null,"reference":"PMID:34456975","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"98d8bab4b741116a9e098ef7dc7ff833d281f3f5452bfd0756392d66fb02494e","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002251","is_excluded":false,"label":"Aganglionic megacolon","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"9b37cedfd52bf17884413b5344cf0549bcfe4a4a5fbca883b02a157a6e667b93","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:619947","disease_name":"Waardenburg syndrome, type 2F","evidence":"PCS","frequency_raw":"7/7","hpo_id":"HP:0001010","is_excluded":false,"label":"Hypopigmentation of the skin","onset_id":null,"reference":"PMID:35543077;PMID:28504826","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"9b85a454ad84edab4fe205654e7bbc20447c43fe2088b0adeefbc896360cd7f5","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002216","is_excluded":false,"label":"Premature graying of hair","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9d00c824eef39c339c1eef60cd34606b44962af38852981c269c05dfdd07ac61","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001258","is_excluded":false,"label":"Spastic paraplegia","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9d41e4bb6db0b567fc290f97f67ff13895674073e771a1fa961a865fd27955ac","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008568","is_excluded":false,"label":"Vestibular areflexia","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9da9a87dece0f55cc2d788734ba300df03b849683845e47daa8e304f8f976dd3","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:613265","disease_name":"Waardenburg syndrome, type 4B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001100","is_excluded":false,"label":"Heterochromia iridis","onset_id":null,"reference":"OMIM:613265","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9e0759f83d7135d66f8c60a30aa88b9da92f301d089d113fa442ad4767f10b81","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000303","is_excluded":false,"label":"Mandibular prognathia","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a03000ec29830c7f3fbca505cd795ff7664754a46628c6de9855bcc31336eb33","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001100","is_excluded":false,"label":"Heterochromia iridis","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a0c199f273fc90a82a75ee61f84d4559f6bcfc20009550cec03e6fe8620228f8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002414","is_excluded":false,"label":"Spina bifida","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a2d0ad34a65add06508dd60964866b56d0e2a3a55a322bcdd22dceeccaab20dc","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a514ac4189fc535baf7efeac958c4b9c30abd53e231999dd8c8405c9fbbeb255","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a56e3a1ed84d51940fedde7c9a12a39b7f06ceeab352da4fe60c7bfb248a5c66","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001100","is_excluded":false,"label":"Heterochromia iridis","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a7459f5b012cc7f3b9536c6307d9e776a7c2ecefe144e7d802c1e44989e56de1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002946","is_excluded":false,"label":"Supernumerary vertebrae","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a78f8fa2a7df9063667f057d373d5668c4c964a1689990e13ba98082af82dcf5","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:193510","disease_name":"Waardenburg syndrome, type 2A","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002227","is_excluded":false,"label":"White eyelashes","onset_id":null,"reference":"OMIM:193510","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a7cea9ff7706d2eb48dcf781ed6a9ecc89b426d0e15d2ada7604061df39ddb5a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100490","is_excluded":false,"label":"Camptodactyly of finger","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"a8401c87ff31c50c93d9a2f071b3f27828d4a2f0d1124559d7bc3427e7a9a826","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:193510","disease_name":"Waardenburg syndrome, type 2A","evidence":"PCS","frequency_raw":"5/6","hpo_id":"HP:0007587","is_excluded":false,"label":"Numerous pigmented freckles","onset_id":null,"reference":"PMID:34323021","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a884a137a85122db349d3387cd42201ebe699b2ca2ce7cd9902ed7f895b0347c","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008527","is_excluded":false,"label":"Congenital sensorineural hearing impairment","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a895c502a97abe1a57c152afa52f1f9785df17f4d1b5abfa13b328087b1dc479","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005599","is_excluded":false,"label":"Hypopigmentation of hair","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"abef4af247e0426d2d6778297b8dcaead9e564266b4652f75fc03f5f0a01c09e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000430","is_excluded":false,"label":"Underdeveloped nasal alae","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"acb6d1a01cd446ce12747e28a940710d662251c6343a1dcb0cbde962b8812f1a","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011364","is_excluded":false,"label":"White hair","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"acc993093c1bbb5f080745a3f7c2d0a4e3163edf93419682ea63ad286874fb7d","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000478","is_excluded":false,"label":"Abnormality of the eye","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"acf17f5d245fed82b54f49b1b158ee3997a2e2c04dd887f2f6c0845ccd5c2c22","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ad6f0d725db4fca8f3d1f4e6749f7231e44ad468cad623e9fe02cda9a3c858d0","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001100","is_excluded":false,"label":"Heterochromia iridis","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"b132a5e563db7998f44bbcbc69714ea46dec6016741c5da7a856132bd646ac0a","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:613266","disease_name":"Waardenburg syndrome, type 4C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002227","is_excluded":false,"label":"White eyelashes","onset_id":null,"reference":"OMIM:613266","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"b1f4732e0bc2c605c5956b78e4adaffdefa7d8740f61cdabe2f3b82dc33e4871","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002227","is_excluded":false,"label":"White eyelashes","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b29a15a13ed74d164156491ff25233cb33a902dc2e4ee5a3b8decf317eec3d80","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:895","disease_name":"Waardenburg syndrome type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"ORPHA:895","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b2cd2a97e35c867f8c0ca7bc3e1a85e7296ce3e00931c7989b9014bb4ed19076","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003250","is_excluded":false,"label":"Aplasia of the vagina","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b309a1cd97d1335bffc43474a246427ae6f49fb3726bcdb84190960190272d19","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000271","is_excluded":false,"label":"Abnormality of the face","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b334f8a32bb48435a4cd076c6b2c7aec44140c71f101727bb8315d0941a18d5f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000506","is_excluded":false,"label":"Telecanthus","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b3970011198ab7b7a151611bc15ad72c88adeb53f7aac3e67b2b671098827d17","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:619947","disease_name":"Waardenburg syndrome, type 2F","evidence":"PCS","frequency_raw":"4/6","hpo_id":"HP:0001100","is_excluded":false,"label":"Heterochromia iridis","onset_id":null,"reference":"PMID:35543077","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"b44feda265e89c345fe6c7b12d743e4f23a45e69352c54b9d5af59214ee10cfb","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193510","disease_name":"Waardenburg syndrome, type 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007990","is_excluded":false,"label":"Hypoplastic iris stroma","onset_id":null,"reference":"OMIM:193510","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b4b7eaed3043943c4d1d8e625c595df99a926826dff63960ed0a9630e5ea6f34","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0030680","is_excluded":false,"label":"Abnormal cardiovascular system morphology","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b541aa351876e7476d132f92d09bfc0c8eea4dce8349f3e735c61ee448c315e2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001999","is_excluded":false,"label":"Abnormal facial shape","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b6416e20107247b76a346b11964666df6f91fa0fb5cd165fceaaa18d9d7bfee9","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:193510","disease_name":"Waardenburg syndrome, type 2A","evidence":"PCS","frequency_raw":"12/14","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":"HP:0003577","reference":"PMID:34323021;PMID:7874167","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b8a23ec092c1d0f675c4856184f6715dffb66d88e4eb78de534d4d58fe79e7db","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b9161bfbf9d8da4bd18f0ad780983a8cbbeed40ec2e4b7804d341355ee61ef8f","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000478","is_excluded":false,"label":"Abnormality of the eye","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b971de99873c06f12105132ad0172149c645dcfee86f56e430e3483a09acb3a8","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:613266","disease_name":"Waardenburg syndrome, type 4C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000635","is_excluded":false,"label":"Blue irides","onset_id":null,"reference":"OMIM:613266","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ba2f67ba6df4672e4054de145b9637e2615a3f8c29f641eaa24eb25e0e9dea43","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001107","is_excluded":false,"label":"Ocular albinism","onset_id":null,"reference":"PMID:18627047","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"bc03ee096f425d0f225916a214fb4c6705dd3c1b44456124df4d02a24e45236e","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:613266","disease_name":"Waardenburg syndrome, type 4C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"OMIM:613266","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"bc86198dec0168e5e2cd7f4a1f9d119623f4f74c4dc89de184580b50ca499f1d","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002226","is_excluded":false,"label":"White eyebrow","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"bd8e7df78e0e0c9ef5ef13331ecf9825accdbbc19c39a5a3a285c647fe962e7d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000581","is_excluded":false,"label":"Blepharophimosis","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bed562ba7818f6b629ab455b1a0f55c83fb02c687c1ec6bf8646083c2fd20ebc","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000767","is_excluded":false,"label":"Pectus excavatum","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"bf10e5eda5ed550e9a8b290a93b91328b479174a35d7a02ab518479afb40c1c4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000426","is_excluded":false,"label":"Prominent nasal bridge","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"bf84f7ac81867bb5b54faae45bd94ffd82cf6c501d2ebdb48bc63792cd37f2cf","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0007730","is_excluded":false,"label":"Iris hypopigmentation","onset_id":null,"reference":"PMID:18627047","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c077734416b594cf38bb1585f55d6cd01d1892ba5809dca081cbda5b3c7b4ea6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0012453","is_excluded":false,"label":"Bilateral wrist flexion contracture","onset_id":null,"reference":"PMID:12949970;PMID:7726174","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c0b866f0059d234c8d93f833482f97f4c9e2ac5c77cf68850e807c30324557bb","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0007676","is_excluded":false,"label":"Hypoplasia of the iris","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c107ec453b5aa92c11cb20b5d94e2f91bc3440161d5fbbc2db7b452bad5143ca","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:613265","disease_name":"Waardenburg syndrome, type 4B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002227","is_excluded":false,"label":"White eyelashes","onset_id":null,"reference":"OMIM:613265","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c1f397bf1b5cba5e2c3773565885fdccc988002764068fe87fb0d35b19e7a898","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:613265","disease_name":"Waardenburg syndrome, type 4B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002251","is_excluded":false,"label":"Aganglionic megacolon","onset_id":null,"reference":"OMIM:613265","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c20ca0e4dea87d460ca85a16053719c8c37a5c5f03173e98f768f3ee1aa27d0c","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011364","is_excluded":false,"label":"White hair","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c2609462d8fbdd9e5aad4efa1075acd8a371b7cfd4511d78b4729df64d40aa66","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0007894","is_excluded":false,"label":"Fundus hypopigmentation","onset_id":null,"reference":"PMID:18627047","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c342b288585f442813ac02dfeade060542d71b0ca2ca16196c2189d758d80c2b","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002321","is_excluded":false,"label":"Vertigo","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c3e23bcc0d75e789a541fa14f87a8b0a2cf2e14a26ca4a51eb36b7938d149af6","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001053","is_excluded":false,"label":"Hypopigmented skin patches","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c4364827aa7e692dbf4ca6e5248f5ecc22812323e2392f53cefe94ca37d4d9c7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002475","is_excluded":false,"label":"Myelomeningocele","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c54fa07cf240a0da3478ea99b75b2e09b5fe4ac5970536686ad95f18a5a67c00","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0009830","is_excluded":false,"label":"Peripheral neuropathy","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c55593dac4332813128d795ac1541370b3db02c7f70553019378c06bab656fba","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002227","is_excluded":false,"label":"White eyelashes","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c66b0e8c5dd4ceb29c7724ce4bd93747b677adacbddddfcd9b570e1d3ce08a8b","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000508","is_excluded":false,"label":"Ptosis","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c721d19bc10ba0dce354e3d7c40b8ac75107627477c9b662eefe8e238fa25409","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007990","is_excluded":false,"label":"Hypoplastic iris stroma","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c8b32d72d7c7dbb83cc6c5525cda79d01a9331da6f93563175cab0e273cf8539","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009702","is_excluded":false,"label":"Carpal synostosis","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c8fd72cb2536e2246d9e597535c74879e84f21ed2aa022f51e9db1e2defabc3b","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002211","is_excluded":false,"label":"White forelock","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c96d60b83cf169ed0f85fe7a4cd65732a45278f13f93ee5fa791ea8f031f95ec","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:613266","disease_name":"Waardenburg syndrome, type 4C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001100","is_excluded":false,"label":"Heterochromia iridis","onset_id":null,"reference":"OMIM:613266","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ca8c9e990f58f4a2dd8374082a33925c5a7419ea78d0373c602e66d42b26abe9","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"cb513ba4b9f5864dbb9deb8b6ec0a2b54574e5f77a1fb588602b6676ba39f51a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000202","is_excluded":false,"label":"Orofacial cleft","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cdde2e1d8c38e405d622389fe59338f945747766bbfc6464e4a5bebe6eb750dd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001341","is_excluded":false,"label":"Olfactory lobe agenesis","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ce4b4aa97181c459e80aaf96af51fa54a4c5d6da90e89872f0021de70376744c","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:619947","disease_name":"Waardenburg syndrome, type 2F","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001034","is_excluded":false,"label":"Hypermelanotic macule","onset_id":null,"reference":"PMID:28504826","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ce7b999fdf7b36d3219a27c79e10166a096fb1a2a7a732c0805840c89f01c84f","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100811","is_excluded":false,"label":"Aplasia/Hypoplasia of the colon","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ce934ca4a51a33fdc09fc99de37eb8608fdb700401dc2905fb9b3e5e9d885fd2","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:613265","disease_name":"Waardenburg syndrome, type 4B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000635","is_excluded":false,"label":"Blue irides","onset_id":null,"reference":"OMIM:613265","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"cfbbbb46884497a8d873bd5d97f1a5e3a795c8518fabac9ee497e745e4d7cd17","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000430","is_excluded":false,"label":"Underdeveloped nasal alae","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d01aa1cf40f46ccd2aefa06394f7be14f9b5fcdc844ae4dd58fe520ae25baf44","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:895","disease_name":"Waardenburg syndrome type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002251","is_excluded":false,"label":"Aganglionic megacolon","onset_id":null,"reference":"ORPHA:895","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d0c951d04dc568fe5193c833edbafa635eb53f4aeb0944441b9f8e87d9bf3dcb","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000506","is_excluded":false,"label":"Telecanthus","onset_id":null,"reference":"PMID:34456975","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"d368945bea27f7a3442e8df925db413f206fbe1317ae1ce6b3502a5be0ef04b3","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:193510","disease_name":"Waardenburg syndrome, type 2A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007443","is_excluded":false,"label":"Partial albinism","onset_id":null,"reference":"OMIM:193510","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d3729c1a0a1984fbe6e0b73f0f10848c5745612e7a1db53565c206cc719d7627","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000504","is_excluded":false,"label":"Abnormality of vision","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d3bdf81894834222b921323c5a938ccad317907a5561c3ff3c9db40116ebc5d3","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"PMID:18627047","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d40f33c73d14ecdee9b18485ee48d52098c7a67da02a1fd3371c2490c859e3ce","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000430","is_excluded":false,"label":"Underdeveloped nasal alae","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d4a10ace5e3beaa9efa41d0d68ce90fe8bef9abf106f626f940870ba7f4c298c","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0007894","is_excluded":false,"label":"Fundus hypopigmentation","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d5f8becf49dad29804713846b7556a8b7138291871fd8dbe82607032b7089305","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000534","is_excluded":false,"label":"Abnormal eyebrow morphology","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d6bd8d7d00c9d8ea0c65f957b51c23b8a5794c1d67660f8a0401bd377922f5fe","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100750","is_excluded":false,"label":"Atelectasis","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d6cc295ba8b57432456a2c0edd76c54c61316f60200ae5ab29d62c713aab6ebc","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002216","is_excluded":false,"label":"Premature graying of hair","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d6d6f03845113fe86250092c2181bd7d4fcb7aa8c7015f52c604bb90288c2ede","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001258","is_excluded":false,"label":"Spastic paraplegia","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"d6eece747658623f7d2bd681e09cde1e9324869e60d162545b5a535ce90a47fc","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001060","is_excluded":false,"label":"Axillary pterygium","onset_id":null,"reference":"PMID:12949970;PMID:7726174","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"d843bb6dd7dbccdf3b1c4a76df6b7ca06d1f53d9550917ba158eb30431bf5a80","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002251","is_excluded":false,"label":"Aganglionic megacolon","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"dbe5c7477dbdb8ac3c45fc5087ab950c92f1719b8788070680c9041780ad0363","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:193510","disease_name":"Waardenburg syndrome, type 2A","evidence":"PCS","frequency_raw":"8/8","hpo_id":"HP:0002216","is_excluded":false,"label":"Premature graying of hair","onset_id":null,"reference":"PMID:7874167","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"dd1b273fbaa78f35c929bb9e3599c6b1e9824f1f136d80e51c0d1a06004b5727","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001631","is_excluded":false,"label":"Atrial septal defect","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"de2735892358f684a4ccc39109f58adee85c5349350e762c267f6f2d591bb10f","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:193500","disease_name":"Waardenburg syndrome, type 1","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002227","is_excluded":false,"label":"White eyelashes","onset_id":null,"reference":"OMIM:193500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"de6c05a4c5734e24677ee1ad814ddba36b9da1e3e2d9152a2c7262fde3ef73ec","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:895","disease_name":"Waardenburg syndrome type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000508","is_excluded":false,"label":"Ptosis","onset_id":null,"reference":"ORPHA:895","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"df6af95320fea886fbad5455c1328c8d8d6fb319e584f7807abcb870eabe5115","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000664","is_excluded":false,"label":"Synophrys","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"dfa674350241ab316972b36f25b863035a79071d608bbdb08161fddd9fc92957","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000635","is_excluded":false,"label":"Blue irides","onset_id":null,"reference":"PMID:18627047","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e02871841152edc769734835eaec8dd512dbc02f04ac9aac4e1221927edb17c0","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:619947","disease_name":"Waardenburg syndrome, type 2F","evidence":"PCS","frequency_raw":"5/6","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"PMID:35543077","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e318c97044eab92dd283126c02518073f4634f89c8e53fd04a757872eff94640","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001167","is_excluded":false,"label":"Abnormal finger morphology","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e5326a4bded97ea3041bd9e53e7229dd5fb9757fa1f38d03585c912ca350ee27","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e641add42ea9f1b7b52e91bb0a731f980ccb8e67dc02a755aec877fe60f7335c","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000635","is_excluded":false,"label":"Blue irides","onset_id":null,"reference":"PMID:12949970","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e69246dca43cd458a24c8a14fefeb741daf35faac0977f90f1e0ad475895dde4","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:613266","disease_name":"Waardenburg syndrome, type 4C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002251","is_excluded":false,"label":"Aganglionic megacolon","onset_id":null,"reference":"OMIM:613266","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e6efbb81c2d635e00cf6be07264dbf82466122da453b1aaff461d39643fc5b3e","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002226","is_excluded":false,"label":"White eyebrow","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e7102aaa31d747cddcd88f83b15771a3c4d70aaabad8e70d3d3d41868c7158f6","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:613265","disease_name":"Waardenburg syndrome, type 4B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002226","is_excluded":false,"label":"White eyebrow","onset_id":null,"reference":"OMIM:613265","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e79912a6a37a23bf86db636719d471e6ea3468757abfed62809556056a279d56","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:895","disease_name":"Waardenburg syndrome type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000506","is_excluded":false,"label":"Telecanthus","onset_id":null,"reference":"ORPHA:895","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e7c6e5e978d98f2c3b2cd4e4e6c3b540a8c97615b7b1fbed45e931928110654e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0012745","is_excluded":false,"label":"Short palpebral fissure","onset_id":null,"reference":"PMID:12949970;PMID:7726174","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e7c70ac0e4f96475ecdea2d3f69880ecb677ea3ef5714eed505686cc042bc05f","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"OMIM:148820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e85500a724374582418873355e964029a51a7619304ab392878636c4009ee676","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:895","disease_name":"Waardenburg syndrome type 2","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002216","is_excluded":false,"label":"Premature graying of hair","onset_id":null,"reference":"ORPHA:895","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e92384e8a4fc560b4a6b4a00eb45477a9d9540898b7c0a8003a8d86f3001a685","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002251","is_excluded":false,"label":"Aganglionic megacolon","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ea46c729977a08cfe404bb5478bf05dc6fe79c3b347fcaeb5111d839a44c28f8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005274","is_excluded":false,"label":"Prominent nasal tip","onset_id":null,"reference":"PMID:12949970","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ebc07a28e9b092b202af37ffc9de19f08d550d3efc98a22f1a5e0f95c6940ec1","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:895","disease_name":"Waardenburg syndrome type 2","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005599","is_excluded":false,"label":"Hypopigmentation of hair","onset_id":null,"reference":"ORPHA:895","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ecaced772efca22907a833d686a3ffe6d5e9fb2c93507f9695b54bf25baa2b8e","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0011376","is_excluded":false,"label":"Abnormal morphology of the vestibule of the inner ear","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ee05ec6ee1f6eab17ebed1adce472af28092c29f3dd28013fdd92a4eb7f3674b","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:613265","disease_name":"Waardenburg syndrome, type 4B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001053","is_excluded":false,"label":"Hypopigmented skin patches","onset_id":null,"reference":"OMIM:613265","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ee0eb8e8d1de1e12a79ac457fc19d0ac4485f08210995714d0250f5692d48290","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000506","is_excluded":false,"label":"Telecanthus","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"eed2587455bdba4ab1d3683ddbae53ab8b9eaffd326425badf19d504184b2984","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611584","disease_name":"Waardenburg syndrome, type 2E","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0008936","is_excluded":false,"label":"Axial hypotonia","onset_id":null,"reference":"OMIM:611584","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f1fec862591d308efda41f050ca4461181e14606db26e5da89e332df725674c2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:148820","disease_name":"Waardenburg syndrome, type 3","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0010862","is_excluded":false,"label":"Delayed fine motor development","onset_id":null,"reference":"PMID:12949970","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f32c1a06677f0a636b642deb2f1d3512f1a099c772e2e54a108ed0ba95da4b04","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:277580","disease_name":"Waardenburg-Shah syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002227","is_excluded":false,"label":"White eyelashes","onset_id":null,"reference":"OMIM:277580","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f3515c390cea165cbd9c2cbf965cebd7337fb3fc5df368c257dfd61341658076","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000664","is_excluded":false,"label":"Synophrys","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f427892269d2fa0d8b2ba90185351e18fe81e539ea28a4e98318088712b13bde","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:613266","disease_name":"Waardenburg syndrome, type 4C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000135","is_excluded":false,"label":"Hypogonadism","onset_id":null,"reference":"OMIM:613266","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f4ae32704db891bb04eb75cdab1b4b6154b10eef0735b4a64bf4b42716aec074","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:896","disease_name":"Waardenburg syndrome type 3","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002817","is_excluded":false,"label":"Abnormality of the upper limb","onset_id":null,"reference":"ORPHA:896","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f77411671dc8af4e1daf6fe8d19b5eeb920230925800603e5aeec0cf34176589","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005214","is_excluded":false,"label":"Intestinal obstruction","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f77a821f56f170b84004e5f0f005149d85045461ad7785262fa4af549ac28bea","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000431","is_excluded":false,"label":"Wide nasal bridge","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f7bb3da7c9a47e43fe58a26f0d5bb3d2dbaf1114f5626016014e34f9a41d8dca","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:897","disease_name":"Waardenburg-Shah syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002019","is_excluded":false,"label":"Constipation","onset_id":null,"reference":"ORPHA:897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f879b5195dc1e233969b3294ffbf4273b521ab87eb3237da24083f8a7369edf3","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002251","is_excluded":false,"label":"Aganglionic megacolon","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f9d18766aa1097866fb0ddda2a3867627a871378091c3d75f70cd76eb6da4de7","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:895","disease_name":"Waardenburg syndrome type 2","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:895","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fa8b106f6f1aadd5a40911ba3aeb8baf99ea4cfd31b3954e52ff64ca4215332c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3440","disease_name":"Waardenburg syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002414","is_excluded":false,"label":"Spina bifida","onset_id":null,"reference":"ORPHA:3440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fbecf6501f371f863a05d5e61bcffe2b5b4d54953df1dd16124b817278ff9cc6","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:894","disease_name":"Waardenburg syndrome type 1","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:894","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/waardenburg-syndrome\">Waardenburg 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>Variants (also known as mutations) in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. These genes are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye color and plays an essential role in the normal function of the inner ear. Variants in any of these genes disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, and eyes and problems with hearing.</p><p>Waardenburg syndrome types I and III are caused by variants in the PAX3 gene. Variants in the MITF or SNAI2 gene can cause Waardenburg syndrome type II.</p><p>Variants in the SOX10, EDN3, or EDNRB gene can cause Waardenburg syndrome type IV. In addition to melanocyte development, these genes are important for the development of nerve cells in the large intestine. Variants in any of these genes result in hearing loss, changes in pigmentation, and intestinal problems related to Hirschsprung disease.</p><p>In some cases, the genetic cause of Waardenburg syndrome has not been identified.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/waardenburg-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Waardenburg syndrome?"},{"bodyHtml":"<p>There are four recognized types of Waardenburg syndrome, which are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the arms and hands in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/waardenburg-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"waardenburg-syndrome","sourceDocuments":[{"name":"Waardenburg syndrome","reviewed":"2022-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:44.583323+00:00","label":"Causes","pageSha256":"d1da701a0a8fd9f3422622f884391392b96b692836283cd151be6524b407ebbb","sourceUrl":"https://medlineplus.gov/genetics/condition/waardenburg-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/waardenburg-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":"Waardenburg syndrome"},"schemaVersion":1}