{"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:0010210/OMIM:278700","label":"Xeroderma pigmentosum, complementation group A","mondoId":"MONDO:0010210","onsetQualifier":null,"recordKeys":["01cb21c125c0dfc68c496f3ebd7c3de6753a408cb5ed31c196a74b6c5cf4f59c","0bea77f8f22703c7e96fe1099e498f513be37d4a0ca5e5cb97f543b68d9a688e","1c895e2008de46dbaa51ef79b116e17107023886c7edeed93ab551f50f569d3f","251de43985fb84c3546d83d431f6459411a5f91929acdcc92691aa86c9b33b34","2a0df271a27c05bd04106929249ee7fd798acc7980a0265b316688c027474c1c","2a4e379f30f06a7dac487231d318c64d9ec164d46803f7cb8a6e47ecf0e8e6f5","2c5cd9cfadbfb28ca747e52341ac8b1e29990d589e13e35deca9cbd93ca31514","30f5ff5619c8973edd16e8ce39b25cce702f3a92d596084ff22ad3381782ad7f","3412f2d0a15f5f199e27b205ff529c9885818dc389d2a0b41192dcf23d1383c6","3c566a4caeb147e7a751e08e5c60fa39e6f83b9f8355e86bb881c6c8d8ec7e35","5ce435c972b0e93ec0c43ddaf9f5457ff5d62863180a33d70bb0dba3f4175d3a","918fabc0fcab3771be88454da2106419e877d346371502d0774e2733c6950a49","9670eeb67f530364f402ef02b11acd7e0d6b823e1c6b54f9940b772ba23fa60f","99c78e9634f923c21bbf222e368e1adb804beb0601aad89b5da7091c48caafef","a54e2182a0ce7a7b54ff1ad45d62c433ac4ca58c6ccd43a1f27e080fc93634de","ac3e2006fb311ad1c8ac06f65da34c9a551eda60b61d4f9746795287ccdf43c4","ac528d7d685b8925d9f83fab5674da6d1ff239a33d50a988b8525204484aff85","bd6fc1fd588304fb1b20567c00fcdab1362cd46f6bb9d6e10ec2ee3c3924ed81","c8ebbb5adce68fcc3c9f5bd8d4972e5ea52ac454b8bd12dbf97e1f37ee23ee7d","d590952fcec1c695f687cc9d8056d99319226e06b9cccdcd8c9e042f84ed9e81","da1658893a0cd35ef8299b8182d42ad86b0581e4cf7878a000be6faa0305db56","dcf1907ff40fd67b91bf3d7a72bc1bd5533e7ed69eac73bbc8dde806d1ec593f","df52906bfeefd6dc721bb342ecbbf5c341801acf0470f4b1e365c0ee27e8aa0a","e40e1b4d886776d115849aa5ae3775d5cfa15eb640046d7ee0b0d7f382026486"],"recordQualifiers":{},"scopeLabel":"OMIM:278700","sourceIds":["OMIM:278700"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010211/OMIM:278720","label":"Xeroderma pigmentosum, group C","mondoId":"MONDO:0010211","onsetQualifier":null,"recordKeys":["06ef6455f8cbe384578ba6806358e44b404e69200caabf1f1caf0194263fc547","312e05a2542e465857ac7e0678f3a6a3892a514296bfb7c59c947b602ddc61c9","3d67af53106e0897b796f9069a71690a399ff0318b44431ef03257685a54e9e0","3e508b74926dee297acc0797030f4a5a2de3b14a62179f88db0d8f02772398b8","4aed7244c31cb142632ffdb9788463599f1931ae9c9259b5c5d910e9afcedcb7","4eb343242dd0173cc6f5fd6e3e6ba0cfa942a8e2c477be3ab7e6751a83dd3bb0","6735b92121e422f1da012f298af4f8567faccc5143559f27653abef46aa9dd12","6b8dba0aed039b6e417413f5f8c12300dacfeb18b37ea96b388a6f48303fab5a","7139f41c3ea73b6418bca4e55f31f6ac45a7bf1c0821fdc654746735eece0ac8","8ee63c6ab39abafaf1686b24c04d71934027ef8c5912d52dc2aa07a5ca16b5a6","92ded0622a8aed1b8be083a736e9c03a74f72dbe52cd3531a79cacc5b40ef485","95dad855e18a25b129138f9e40efd14f868c9d8e18d1583f18d9c4cf6a81d95c","9f39740e883641f33db2c71cf1aa5dd4b2317a34297d2a2048851d25ae24e9a8","d8a0216281ae033e265b5165b767d5c61e56d438033e965e082b02b8efd4dddc","e55c5e0d2e0ec66771c57dd9a1ee8833f1ab4b7f0561d1ecc8b0426a3719f10b","f17c321eee27f668ae55a46848ddeacc9bcbb945fde37f0db02bfaea006fc8b1"],"recordQualifiers":{},"scopeLabel":"OMIM:278720","sourceIds":["OMIM:278720"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010212/OMIM:278730","label":"Xeroderma pigmentosum, complementation group D","mondoId":"MONDO:0010212","onsetQualifier":null,"recordKeys":["1c1711f31603fe45edf700817c1aa6ae8f876611549011acb1994f549def2c7d","22bfe2ad2bb5b9e36f7002c0ad9d98dd4e9b4b8064411afdd3b836ca999cee37","3105c03b11594026dcdc8c16fa528d53c07f9ec0c66af373ca9432ee8b9cf3fd","5782d73958528ffa020429aa5d30c1df2f1ae6bbab58fa726d22a1504112ef1f","5f016758d76934015db9ab550199e0a26038aa60bba9376f7ad792851734f879","6112371812e23a2fabc72846b1d2750bf300639d59abf00e3846a26fc1b6e5ef","646e6664b7a2c877afb8aab186a8f3f311a456f9aa00f636a5065533988e9a36","67de9b404511e98dda7abcc629255005761f961db9ed9f082bd52c5ba718893f","7d3c0a7b431c393c1e06514c02b7be2907701b6228a373d39c0ba07030b36cdf","83da1c9aaf6affbf30276e9fbb69d7444a3490bb500919b17e07ae930470fdbb","86c8749480dc874e0fd3c7517da0a21f02894d49ea16086739e74a3a41b8be16","89850ce4c0555ca2f0f1eee95018f8aa41fa4c030c7ed0e7d62435ab662e72cf","8b73d7690e6a65f0a24a04a1a5adb3732390649a3e6637223a9f9f2f8204ad10","8e083305119f0631ce4b1fc85620d88f6be9198d8b62588f1e7e3f91e0a11f4b","8ec1a5c360fc1e9885cd4dcdc174f4b32ad950c493eba1f1823f695915a438d4","9a98d08cdf3db3e2a59b59ed1b187c3570eb667a4fadcb8bea143a84c834590e","a06fe45d61e844ae372f7ac7c7dff0cdebac9428dde7854fbcb3268d16b09de9","aebccd9905af23cb4a961e4c64e7677221e7429df9205e3d1301f1c0ecdb811f","bffd074d6a1b725b99242bc164b5abb086ec26d8c7c13e90ef52c683405ae84b","e8766d5e1019b00565b3870232787bc63b076995a099208bcd49f6ca8f7d15ef","f50dddbdd0059c342f31615f93f34b50bd4d6c7f66ca88fa81a7eeb988b90c27","faf281e8a995d01554dc9e19e64c8803a8a811f82b6dd3ef17fb52a3d5256efb","feac8d1730836db0259eb9126946018abd3b4f759f5169e868968a8048944737"],"recordQualifiers":{},"scopeLabel":"OMIM:278730","sourceIds":["OMIM:278730"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010213/OMIM:278740","label":"Xeroderma pigmentosum, complementation group E","mondoId":"MONDO:0010213","onsetQualifier":null,"recordKeys":["05ee52747c37134596a1a9061551dc1d2d8d9da229fbc7a5ff8df773afc531a2","19e261054b373c4f254741c9294a3ba7195f974b0963ad94590abba766841ef6","37b64e5cf9dbe5a7b575738315a6dee6152d6414ebcdbf7c07fa2076c5386172","5cdeb75d32024c55e2547cb90b2ed6da831a55013eeb2c4fa71db8eee06d4539","7545b45d8617f17a54d0a95edea3d9cf6e7254563fc416f31e5458922686129e","77216e8fd4fa5d9596e72789c6df44400e5321c7f8774d4d6afa3f7cfcfe89e7","87faad1f35f05ecb06b1079d763cf97002fa3e5ef3010b13e009bcd399505d60","a65879955b60a7875aa870a13b291633070ab6aaf5f1ee8875cd35c23b708e1c","a6adf359232e24eb7325fb8a81093983615d2dd6fdb4a2c3f8ceaf104be0e854","aa5eca2d0e18d2e9fef8f3b0cbbd3de93b6bf9de157902f4d70b8c7c6b391682","b93503090adf92417b2893dbfbe3cacb1027de27b8d7a5d9e863e82e2cc51e13","d3b5eac4873f06c75f96c4f01b35e64b6f83fe09d91c7a8773008da72f1caf5b","d4de903a814ebcefcdc5c49927f5d0291ff53573370982239c9e0355d529ddcc"],"recordQualifiers":{},"scopeLabel":"OMIM:278740","sourceIds":["OMIM:278740"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010214/OMIM:278750","label":"Xeroderma pigmentosum, variant type","mondoId":"MONDO:0010214","onsetQualifier":null,"recordKeys":["09e70fc73c5123f5a755aefbcb80463ef3d52caac0009bc5ac75c3edbe9edbb4","0e69108d94347e2260da6c946f44c7cc16f9177461899a70bdc5da4ad9402720","277da3375273720b08b67912b835d54eaf1b50c6e47e20fca8b21cf6fbb9071b","2a6774f4a73936ac611e620c5a3e8cae9cec6fb743bc49a34fc060dae6c0ad67","2a8fa6b6dc6bfd388e20a531a765afa8274ef05947f5395e75260a5d31e8de4a","2d3f1cb4729e13d5b91c3f7a1ce36bb8a292602d77d0aad0e4c543403d759771","35cda577caa795b4b006fe3eb834a427fb95d98c20412c3034ca6bdbb21761e3","4abeceaebe35abe7d65ecabfc5d13f104e3631e05029660b14a2effc4212d863","599628a56f65a6fb4f797063caa86fa968c47f0221ccbe4f3f3c2e83c5d7c9a6","7029ae5f81c18b9085091ee98cf1640b41f7e3dcf67d20ba0f4ead93ab85a215","87b3d5c1c563fd60239f92209f5bf87d9e9efe18834496a683d1de8f18a92dd9","a7d27aa8b7d943c838b938d9643ff12d1aa4f4e025e41037cc90493fab5e5ac6","d8c35d88441cd4f091fb53466225b308b1cbf355e3f0e488efeabedd83f1fe96","f7ff074ce4540168c61f57dedf582a85312605ccd138cbd8dd8c0c517e34f901","ff14c959f1317f8930c12a7b23de2c0357f2364b7bb160824fae8edb470f7a94"],"recordQualifiers":{},"scopeLabel":"OMIM:278750","sourceIds":["OMIM:278750"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010215/OMIM:278760","label":"Xeroderma pigmentosum, complementation group F","mondoId":"MONDO:0010215","onsetQualifier":null,"recordKeys":["00a6fda43c50ff790f67e8618b894786fa30d289605941a76ae0c7e5853a5aa1","0787d3883b25c9aeaf0730e18625b98c65cfb6cfaf841de2dde703ca79809602","07eb772b14f2660503f633ff59a9be5365bc819c02abb5fe855058b42932a24e","175f7aad287daebf9a5367516289fd7e177b316d784f6b4448781d1620c2cc62","2c795a64fc240cfc3f64225ebc9e20833d5921e1112b7f7c8038f3c3dcc4dd28","4f33c0fc5bdbaa873e6da9fb569a8b08dfec6022a0d17ba93178129090436884","56515202e111780c181421caad486de5e76216e25ba6ee54145c23f1eedbe18d","61ddd5347f611af95c457c3c6f0f29ba3cba1c8bfc6675218164c8af45b6b1f5","6d7150bbf285b339b59b10ef36b71865d938a3d27c23b3e0d4ff047ef8906ca6","72df42ddfdea32145b2fbe9722c3c61200677f792bc2c4c81a5012f129ecd785","74e704a700c45a7ba144168a814c83c3e645671b156cec3b6fe2d34941798b8b","8cf4995a813b0c49f346274318f3a0f9db72c35ab8d589177376c205fd1ec72b","8efb1553396cc392971d6c601f0bb6b4c868ca8b369bffd6e775aeda0c4bf8a8","915f26c13e31277bd9f60811773f4c6a76da32bab450a0f2a7925ab062125703","93da2d0afb9d6733050a1862adadce265a49f1ea423c08ccef9568ce4079b401","967103f4f94f004890d8a7a98170d9a77a98167a8de3aecfa3ba92f3c70bb924","995a655a31ccd6ea6f5215b9e73ac9869e18f3974dab57084dc8e704293cb53f","9ad6488e77d78ce4fae42015d28b51ff248f66fec3d7570a5c2d98dcbaeb27c0","c3f03a48aee1f24c1a3398334ccdfd2a94d5a3683177b6fed61f241e042927e3","c460e9016e8917b42f7d1b50853856020e56fa9370cb030b4ce5d8d8bad84f33","c6ae30663950f5528d40d77986fc1ef7b06e17a4ffcdc99898eb70d6cb02080c","d1eda27f8b44abee1000f8ffb438a9116e385c20b84a31bee4b60ff6c58a4629","d525f172e1e964de3f7c73cb7c9eeacbbd1c0da73a01a81d369d237a0464e361","e38fb2a1a9e0d35c14975e73aad98d9d28d192276cc9827089b02e2237275c54","e77670d6c1e373bcb12dbf171eb573354e4d0ff447b0a14268970516897eb4e6","eba359e4b095caef6b11769ae545ffa27ef3d702fec8fd5cdc279d9b20837a9a","f0e85a457341f43121d39da72649989f9011e5b45d8d4803773e097e56c87b6e","f256ed49aca5759550bf9e83a63b33866b7a86f70a8cc55174a81c30b71283b1"],"recordQualifiers":{},"scopeLabel":"OMIM:278760","sourceIds":["OMIM:278760"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010216/OMIM:278780","label":"Xeroderma pigmentosum, complementation group G","mondoId":"MONDO:0010216","onsetQualifier":null,"recordKeys":["0697e3d4b858bb14b6ca2700f6148e4c7d12c462f98e3936a5c0685c040eb43b","147fa9e89c202815b9018fcff4c7a26647b68d225a8fb3a3c149161a551f7be2","232fa5055628b17bbb07a80edca431f58e579f226bc7319c6d53f678b4491e83","2436670c507c37205241d82b3833b0e4dd24c5067898efbd3b3d0cfe1bb1384e","396da93ffc9890a80d9b68ee60b5daf88a7722f74e3c9a1696140a5be6d42be6","3c42c25168c933be36adaf8bf7f434728e8d02052ef2c38e57310243a2335d5d","845b2eec330f908145c92289cba7d48236248ae07acdfe291f4c8f40a9ceb7c9","a9107f4771516721df2f01a690f5194f8f87e6ddb4e224df02997b78352549e7","b248148f6e7728cd506f5a00ab2e53e1aa93a3604d1ed2e2fab786ccdecb4f44","b561f962aa9bf2e361329886ba0a344fd10b9e954ba8d7124d843dcf727d18ff","c0446cf502995f910df12a207830e9b58f2179bf219b6a90a07e69134de74b66","ce1c18307beb0d7db54ff4caac9a47787a711762f74842110e6efce052f0feaf","f6327ed7afaa622a8665d783676482126b405c42fb670bca3100d44cd037295f"],"recordQualifiers":{},"scopeLabel":"OMIM:278780","sourceIds":["OMIM:278780"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0012531/OMIM:610651","label":"Xeroderma pigmentosum, complementation group B","mondoId":"MONDO:0012531","onsetQualifier":null,"recordKeys":["31704b98fce8f45a2237acbb4e1b5b9c9e40ea22699361ee3d89fd35b4de3573","4a48fe0e0d118bda32d6d2dbb0bb38a31b3f3dd62e9870f7ced339ca43e085ba","4dd973d5fe1a4c8dbf89f5dd4a0cb5024664f6a62b6813bd48d5da4effe6bde4","4e4cd94f2e6f9383556a1e4143780b4c041926db9d91cea74a94f46dc2d4d48a","4e669030f5935776c2fc097285c3fc70da0a29eab95496ead530ca5265f4b108","52b2ed117146f3f8fecfb09f1d6a8f39a1249120b03bedcba79ed12b224ecbc8","5a2f1e43da3a47acf4be2f5fbef1ebe0e8c6de94447539b58810614effffc723","6c0f7c4f3028d7d38f2d1461eb8a8c99c12f5f5ed3b1774589ab0d1b4139f0dc","835b56bb08e7e217c8aea6cd52fb9fb6bbfb2d3b55fa879c835eaf498bab9395","969a744781458f8bd32cd42b36564227522ab607dbab8fc8a33f1f174b4d2ea9","9d5cbdc1fba3f92404a46358339d0e0cec974b007811b8e3ddab488249be2356","b0682a7dc2c539ce837eb57677d90478c45b800f55252aacf6c8bf4c47671390","c48a0f9ae1306062993e8f6335dd54d731e1a98070f3519d35be8510d9fdfaa4","c8859447d48e958a477577967dd33a137686d567bcbc2bfe723d448be0fcfaad","d1cefbf38f715dbebbcc2b10c7356aeed2ffc3083055b432117aea3989db7703","d664379172050fb427a4262c23e5f7bb256e3ef99609bb9a707c8467bb27a612","dea2bc900d1445ee0a052e2745c60fcef0209b0e1eb3341004bac5b72a2a0cfa","e5af0748e770f75735c7e918c14a877599d3d8ea0a837ac0880a6a6ac2778a4a","e8914b801dc03ebc87aeec58b968286947f17b44ed97f8fa0eaf46a0dfb1427a","f094856d952564cfd877124da0677abe4f1cccff6d008d0ca0a60a64d4da3cba","f62d2c19b3826ea3fd0261b67b9b3b46e642f53b916cf5c326160bab0a3eeb74","f980279e7d321f02161515cb6bf917d1183d006e3ac16f7d4e9da47afc9b9783","f9c6f84e462775879ded43e15203754bee50aff188db331b0bb8a11236ea180a","fab95cef06a0e651b4330f8135f0b384a7344e3847a8c46c7bde45438de93e55","fc61d76c2a77e19ba04aced80b5c5e49d291f09b15ee6d51412559c5bffce8cc"],"recordQualifiers":{},"scopeLabel":"OMIM:610651","sourceIds":["OMIM:610651"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010214/ORPHA:90342","label":"Xeroderma pigmentosum variant","mondoId":"MONDO:0010214","onsetQualifier":null,"recordKeys":["09baca12ea8b1d84f35c2c9d5c13878ef73a80a5f5fba95e3f2adbda1f527ae6","1595a0d96dce293da4ec89321555017d14f8f0a2dd6b9d9cbcbcccf2092e27ab","26a180a3ed5f3e2fe54b4409fdd236592edd20b15b2f9591194502e242c8a44e","55d6d0d55273e1b7de1bc3a828f7f1fb86794ab93291470db4986a167f1ba373","5a4ee3dcf5fe97c514efa5aa8cc9345ccf2391ce0c83cd7d71c5ecfb5be6d10d","94a9f51fe7025030982116e4003fe870a4da34b92d8d624cae8f1c62089d8ee8","972ef71c22d9b9b6dc65a22b4f558efc8f67c18ec8aa64843dc0fa602186ef26","a0fb3746edcbd6e3a565e331978d001fdcc151d48426e9516036cb0e341ebb72","a26b04cca332e8e942aafd999f2408fb844abef35286aab01fd704dd316665d9","a298bffa7ee3d732f97ec4f8addfbcf934e1103dd23f8de12817e34a49169a8d","acebe9669c22e1f4a7d514bf8ef63d2c3fa3b9f6e072df8aefcee3e81a9102fb","b944b757273c975e4175e2bfcb193deda8425878d08f5a0f8efebdfb21723881","c1b6bf2e89212e13a1102748874fc7c60766ca2d95dd928a11242e3be05e1ed8"],"recordQualifiers":{},"scopeLabel":"ORPHA:90342","sourceIds":["ORPHA:90342"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0019600/ORPHA:910","label":"Xeroderma pigmentosum","mondoId":"MONDO:0019600","onsetQualifier":null,"recordKeys":["01a5c75b9558c5dbf7ffbbbd02769cf56c50bf4f9d1b5ac13cb2fe31a34ed58a","0592466902990bfb3bcdfdd111ebe3f60c5179fbb103222e252c79770a8e27e6","0abb8844548077e90e2f1189d0bb0813e71204e182ca6e08e156851fc726924f","110527eeff1b9a8c59a7610e23b5004ef57fff921175eccbdcd7ca64bbdd35c9","17791e3f7a46b9e48a3acc0fd62c96294ba3ca8f1f6be2555c1d0bfd9060cd8d","182ee2ff1a4a616dcb1a0373317d9fa3c63ddcd0ec7ab704e518cdd71d3db950","1dd4bf068e7b55e7050073f15988c48f991b849cdc2db77ee8d882728791fd82","1e1f286435a9a02788da3476c73d713323f73161a2701cfefba486bd74d62ff6","2d917b08890068bf9e07499dc926ccf6e5cd82e34f6c1fb1bef68b4d17ce691e","2ded415a71c740dca7da86d973d83a061291dd5a1b35f563ba84ff4d9eeb8e17","2e49389fb372330b2aa7eb8df65c1d94e1368b9a00620baf31a40f9e023a395f","3252841aa191ecdbed68465ada73922d4767164ea894313a16efc857fde4c676","328147383ac337c10bf65592b7be3bcdd6880caffbd3d655071ea92985ce75d1","38ded87d2c35c6c950ea3d27e55984b6306131cb9e045d68892c2de2cd8ba3bc","4a8afe5fed28e654fdbbb69b2707fe5ee44ba3257b214f42e4e271ce76b6813f","4e1de430852e028918c57f6cdf45acfa0783906ea0da08eac89e467015131dc4","4f714913d6587c13ce3d77a2df7ae9697266f4a93287ef7687ded75da902506e","543ed49b2f0054adc109056c5ec6de62b9f9c3858f62e1cc055b3a806b63de11","5547fb2c95d0f65538b7114e1f729d18ae8f224dc402818ac88d687939c57dbc","57f13a3e77ac4ef3202876d1e7d57f0372ee084872929cded24bd331066112d6","5baf4242ae7417a8994a6eae1f12dd337644098301561216eacce33924785daf","5d163976b47b9deb1ea4859fc3cc157473cbd74f9431d3dada1773d0653e5de5","5e584516d1cbe762ea3b9a209982eec98a1c12eb0b1884b362fbe9b975b9f6fa","633010486ecc62fadd8b2b78a2ae8927f07b9bfea78918a78b1afc0812889d29","6414e634425dfd940ef2be46449794593cc23dc493e8b5633ee0dedf920dd235","76aa40cd61aa8307ba7f787272c5fcb6a0a946cf1685a8966839f383067a5b0c","7bfbcb6b9718d31d9cf02706d7d6bfffdd027c862825fcb6c040916b1241bba9","7d28474e754b6bc6ed4cfcc237a6d795fa4a315a66f510bf93a9d867f718c69f","82a4875198241bf727d5eb262795b6684a355250af1f06814e3b84d5b1ab54aa","8382582f75c198cbd38475aa3eadd30fa6e89878a8f65a4fd7f5eb4a4ab88c1c","84c7fc5ddcadc5ac7b9b6ffb7012ce9f6327b9be3255efbca44e768b22b7d014","88320ce6251085fb91fc99e606a93516fb637c10f20e4862eae6b6f5b3a8dc27","8d62cf04f71f9e81640649e89ea6942242642a17a3ee1d7c22ed74e4de06f6fb","8f20ada6bfdce6bca5ecb9e5558aed10ec00e38384e9f42364057e2e11227b07","9c7e470d23b152767dbcde6713ae15c852399bb4831185f96f68d6d0668adec2","9e0d970002a24909e141ee54b53192c744f3873a434633be1c4c02d3c70c6682","a21091820c8f5ca5b58946975a3b30837f51a15984f8da226ea8e11045ffd010","a3ebc069d7a95f1eb6b61eeecf7a48851e9368448e26073b5861133b851e0f25","a7a5adde631010f4e036dfcf96a571141d5e4cfa9baa083af30de7128d2fcd8b","aaa1df5e643627670039b594ea118ca9cc51de619ea11d84bc639765a0b4e66c","b0a72bcc10a905698c5b0beaa455961d2e36e83172603cce921bb3cdac59a6aa","babc61af34936a7a401a336099b16c3f033345353a68a0a53c81e71d752e78aa","bf4a22d0af429b39f7eee2af554728a7de711eec199fa29326b54f51194a7cb6","c2d0e7a3012adb20ede19fe3fc3ee554a05a07ef0078aa7c4ee8be2de69c6986","c4534f1ae10971fe4cce79e470f536b17b068d8c0cc52e3b7984e185945bc1f2","c8bdb18c92bcb4eb28a6a599fe0fc2c1c6f714c9b7f79477eda46bbc108317d7","ca62c78b866a3a6c5fc90079611a6ace7be43e1d23d2e43ef44efad89c74c8c2","d3198987a2fdf4cd27afd4d85eea7ce389570a2902905625da4112c9b5a8c243","d775e96c09a86ffc1b8aa8518e42204e7400802fd363f9784a0da84155f7d6af","d86675fb3048f9febd18f820b28b4067c815c2e4527b7836b0c2b68f227f1fd3","da9cb6a3b610772e5334b8606461656373d0336a2154e9e7c72f0fa9d4feccb1","e0485e70ad1af427f7c609e1d8782035a26f20e95e2bb178c895a609b7878b31","e75db9cb5322ab32aa230fec03f42c0da4ee30664c20063ca021b24be9b12116","ecd84ddf6f7d3d285b499190ccd9948be93ac2eb62e3e78789bd31f752cc2d8e","ece689173de0b5e19d3f64f87d530baf2216cab1d78ad8ba00a85889d4ead8fb","f26b408bfaa4a7f9ff3061de96d7808a21c8ba34e2ed3256c350c61e994c4c9b","f847df31f7782195cf9cd40b27d1d3ca39ca4361dd8fd7a5cac3986db63c7b67","fc24c1cb6cf120bd25daf20dadb8622819cf2ed45e0bb49938df7168431adeee","fea83d7066aec07898297f9cc51dcdee5170eac1348baa8d28087c9870e4bd14"],"recordQualifiers":{},"scopeLabel":"ORPHA:910","sourceIds":["ORPHA:910"],"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:0010210/OMIM:278700","MONDO:0010211/OMIM:278720","MONDO:0010212/OMIM:278730","MONDO:0010213/OMIM:278740"],"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":37,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":229,"sourceGroups":{"omim":120,"orphanet":72,"published":37}},"features":[{"hpoId":"HP:0011400","label":"Abnormal CNS myelination","primary":false},{"hpoId":"HP:0002071","label":"Abnormality of extrapyramidal motor function","primary":false},{"hpoId":"HP:0000164","label":"Abnormality of the dentition","primary":false},{"hpoId":"HP:0025127","label":"Actinic keratosis","primary":false},{"hpoId":"HP:0001596","label":"Alopecia","primary":false},{"hpoId":"HP:0003355","label":"Aminoaciduria","primary":false},{"hpoId":"HP:0009755","label":"Ankyloblepharon","primary":false},{"hpoId":"HP:0002977","label":"Aplasia/Hypoplasia involving the central nervous system","primary":false},{"hpoId":"HP:0002829","label":"Arthralgia","primary":false},{"hpoId":"HP:0000483","label":"Astigmatism","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0002671","label":"Basal cell carcinoma","primary":false},{"hpoId":"HP:0002135","label":"Basal ganglia calcification","primary":false},{"hpoId":"HP:0000498","label":"Blepharitis","primary":false},{"hpoId":"HP:0012444","label":"Brain atrophy","primary":false},{"hpoId":"HP:0000518","label":"Cataract","primary":false},{"hpoId":"HP:0001272","label":"Cerebellar atrophy","primary":false},{"hpoId":"HP:0002120","label":"Cerebral cortical atrophy","primary":false},{"hpoId":"HP:0001266","label":"Choreoathetosis","primary":false},{"hpoId":"HP:0100543","label":"Cognitive impairment","primary":false},{"hpoId":"HP:0000524","label":"Conjunctival telangiectasia","primary":false},{"hpoId":"HP:0000509","label":"Conjunctivitis","primary":false},{"hpoId":"HP:0011496","label":"Corneal neovascularization","primary":false},{"hpoId":"HP:0004493","label":"Craniofacial hyperostosis","primary":false},{"hpoId":"HP:0000028","label":"Cryptorchidism","primary":false},{"hpoId":"HP:0012056","label":"Cutaneous melanoma","primary":false},{"hpoId":"HP:0000992","label":"Cutaneous photosensitivity","primary":false},{"hpoId":"HP:0034697","label":"Cutaneous telangiectasia","primary":false},{"hpoId":"HP:0004325","label":"Decreased body weight","primary":false},{"hpoId":"HP:0000762","label":"Decreased nerve conduction velocity","primary":false},{"hpoId":"HP:0008734","label":"Decreased testicular size","primary":false},{"hpoId":"HP:0000490","label":"Deeply set eye","primary":false},{"hpoId":"HP:0003079","label":"Defective DNA repair after ultraviolet radiation damage","primary":false},{"hpoId":"HP:0003213","label":"Deficient excision of UV-induced pyrimidine dimers in DNA","primary":false},{"hpoId":"HP:0002750","label":"Delayed skeletal maturation","primary":false},{"hpoId":"HP:0000726","label":"Dementia","primary":false},{"hpoId":"HP:0004334","label":"Dermal atrophy","primary":false},{"hpoId":"HP:0002376","label":"Developmental regression","primary":false},{"hpoId":"HP:0001315","label":"Diminished deep tendon reflex","primary":false},{"hpoId":"HP:0002936","label":"Distal sensory impairment","primary":false},{"hpoId":"HP:0000958","label":"Dry skin","primary":false},{"hpoId":"HP:0000656","label":"Ectropion","primary":false},{"hpoId":"HP:0002353","label":"EEG abnormality","primary":false},{"hpoId":"HP:0000621","label":"Entropion","primary":false},{"hpoId":"HP:0010783","label":"Erythema","primary":false},{"hpoId":"HP:0030350","label":"Erythematous papule","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0012378","label":"Fatigue","primary":false},{"hpoId":"HP:0001945","label":"Fever","primary":false},{"hpoId":"HP:0010649","label":"Flat nasal alae","primary":false},{"hpoId":"HP:0001371","label":"Flexion contracture","primary":false},{"hpoId":"HP:0007603","label":"Freckles in sun-exposed areas","primary":false},{"hpoId":"HP:0001480","label":"Freckling","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0000962","label":"Hyperkeratosis","primary":false},{"hpoId":"HP:0001034","label":"Hypermelanotic macule","primary":false},{"hpoId":"HP:0000953","label":"Hyperpigmentation of the skin","primary":false},{"hpoId":"HP:0001347","label":"Hyperreflexia","primary":false},{"hpoId":"HP:0000135","label":"Hypogonadism","primary":false},{"hpoId":"HP:0001010","label":"Lighter skin pigmentation","primary":false},{"hpoId":"HP:0001053","label":"Hypopigmented skin patches","primary":false},{"hpoId":"HP:0001265","label":"Hyporeflexia","primary":false},{"hpoId":"HP:0003224","label":"Increased cellular sensitivity to UV light","primary":false},{"hpoId":"HP:0012469","label":"Infantile spasms","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0000491","label":"Keratitis","primary":false},{"hpoId":"HP:0031525","label":"Keratoacanthoma","primary":false},{"hpoId":"HP:0001097","label":"Keratoconjunctivitis sicca","primary":false},{"hpoId":"HP:0012733","label":"Macule","primary":false},{"hpoId":"HP:0000995","label":"Melanocytic nevus","primary":false},{"hpoId":"HP:0002861","label":"Melanoma","primary":false},{"hpoId":"HP:0001268","label":"Decline in thinking abilities","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0000568","label":"Microphthalmia","primary":false},{"hpoId":"HP:0002011","label":"Morphological central nervous system abnormality","primary":false},{"hpoId":"HP:0002664","label":"Neoplasm","primary":false},{"hpoId":"HP:0100012","label":"Neoplasm of the eye","primary":false},{"hpoId":"HP:0008069","label":"Neoplasm of the skin","primary":false},{"hpoId":"HP:0007587","label":"Numerous pigmented freckles","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0007759","label":"Opacification of the corneal stroma","primary":false},{"hpoId":"HP:0000648","label":"Optic atrophy","primary":false},{"hpoId":"HP:0012740","label":"Papilloma","primary":false},{"hpoId":"HP:0200034","label":"Papule","primary":false},{"hpoId":"HP:0009830","label":"Peripheral neuropathy","primary":false},{"hpoId":"HP:0001761","label":"Pes cavus","primary":false},{"hpoId":"HP:0000613","label":"Photophobia","primary":false},{"hpoId":"HP:0000580","label":"Pigmentary retinopathy","primary":false},{"hpoId":"HP:0001029","label":"Poikiloderma","primary":false},{"hpoId":"HP:0005328","label":"Progeroid facial appearance","primary":false},{"hpoId":"HP:0001059","label":"Pterygium","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0031287","label":"Seborrheic keratosis","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0000407","label":"Sensorineural hearing loss","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0001518","label":"Small for gestational age","primary":false},{"hpoId":"HP:0001257","label":"Spasticity","primary":false},{"hpoId":"HP:0002860","label":"Squamous cell carcinoma","primary":false},{"hpoId":"HP:0006739","label":"Squamous cell carcinoma of the skin","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0001009","label":"Telangiectasia","primary":false},{"hpoId":"HP:0100585","label":"Telangiectasia of the skin","primary":false},{"hpoId":"HP:0001072","label":"Thickened skin","primary":false},{"hpoId":"HP:0000963","label":"Thin skin","primary":false},{"hpoId":"HP:0001337","label":"Tremor","primary":false},{"hpoId":"HP:0002119","label":"Ventriculomegaly","primary":false},{"hpoId":"HP:0034275","label":"Verrucous epidermal nevus","primary":false}],"ledeHtml":"Xeroderma pigmentosum, commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet radiation (UVR), which is present in sunlight and may also be found in some types of artificial lighting. This condition mostly affects the eyes and areas of skin exposed to the sun. Xeroderma pigmentosum is associated with an increased risk of UVR-induced cancers. People with this condition often experience premature aging. Some affected individuals also have problems involving the nervous system.","mondoId":"MONDO:0019600","records":[{"frequencyKind":"reported","key":"00a6fda43c50ff790f67e8618b894786fa30d289605941a76ae0c7e5853a5aa1","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0200034","is_excluded":false,"label":"Papule","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"01a5c75b9558c5dbf7ffbbbd02769cf56c50bf4f9d1b5ac13cb2fe31a34ed58a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002750","is_excluded":false,"label":"Delayed skeletal maturation","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"01cb21c125c0dfc68c496f3ebd7c3de6753a408cb5ed31c196a74b6c5cf4f59c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0592466902990bfb3bcdfdd111ebe3f60c5179fbb103222e252c79770a8e27e6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002353","is_excluded":false,"label":"EEG abnormality","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"05ee52747c37134596a1a9061551dc1d2d8d9da229fbc7a5ff8df773afc531a2","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278740","disease_name":"Xeroderma pigmentosum, complementation group E","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002861","is_excluded":false,"label":"Melanoma","onset_id":null,"reference":"OMIM:278740","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0697e3d4b858bb14b6ca2700f6148e4c7d12c462f98e3936a5c0685c040eb43b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278780","disease_name":"Xeroderma pigmentosum, complementation group G","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:23255472;PMID:11228268","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"06ef6455f8cbe384578ba6806358e44b404e69200caabf1f1caf0194263fc547","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003079","is_excluded":false,"label":"Defective DNA repair after ultraviolet radiation damage","onset_id":null,"reference":"OMIM:278720","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0787d3883b25c9aeaf0730e18625b98c65cfb6cfaf841de2dde703ca79809602","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"PCS","frequency_raw":"3/18","hpo_id":"HP:0031525","is_excluded":false,"label":"Keratoacanthoma","onset_id":null,"reference":"PMID:9579555","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"07eb772b14f2660503f633ff59a9be5365bc819c02abb5fe855058b42932a24e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002977","is_excluded":false,"label":"Aplasia/Hypoplasia involving the central nervous system","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"09baca12ea8b1d84f35c2c9d5c13878ef73a80a5f5fba95e3f2adbda1f527ae6","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:90342","disease_name":"Xeroderma pigmentosum variant","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000958","is_excluded":false,"label":"Dry skin","onset_id":null,"reference":"ORPHA:90342","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"09e70fc73c5123f5a755aefbcb80463ef3d52caac0009bc5ac75c3edbe9edbb4","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:278750","disease_name":"Xeroderma pigmentosum, variant type","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0034697","is_excluded":false,"label":"Cutaneous telangiectasia","onset_id":null,"reference":"PMID:7264357","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0abb8844548077e90e2f1189d0bb0813e71204e182ca6e08e156851fc726924f","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002829","is_excluded":false,"label":"Arthralgia","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"0bea77f8f22703c7e96fe1099e498f513be37d4a0ca5e5cb97f543b68d9a688e","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0006739","is_excluded":false,"label":"Squamous cell carcinoma of the skin","onset_id":null,"reference":"PMID:36866916","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0e69108d94347e2260da6c946f44c7cc16f9177461899a70bdc5da4ad9402720","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:278750","disease_name":"Xeroderma pigmentosum, variant type","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0001510","is_excluded":true,"label":"Growth delay","onset_id":null,"reference":"PMID:7264357","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"110527eeff1b9a8c59a7610e23b5004ef57fff921175eccbdcd7ca64bbdd35c9","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000648","is_excluded":false,"label":"Optic atrophy","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"147fa9e89c202815b9018fcff4c7a26647b68d225a8fb3a3c149161a551f7be2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278780","disease_name":"Xeroderma pigmentosum, complementation group G","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001337","is_excluded":false,"label":"Tremor","onset_id":null,"reference":"OMIM:278780","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1595a0d96dce293da4ec89321555017d14f8f0a2dd6b9d9cbcbcccf2092e27ab","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90342","disease_name":"Xeroderma pigmentosum variant","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000613","is_excluded":false,"label":"Photophobia","onset_id":null,"reference":"ORPHA:90342","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"175f7aad287daebf9a5367516289fd7e177b316d784f6b4448781d1620c2cc62","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"17791e3f7a46b9e48a3acc0fd62c96294ba3ca8f1f6be2555c1d0bfd9060cd8d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004493","is_excluded":false,"label":"Craniofacial hyperostosis","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"182ee2ff1a4a616dcb1a0373317d9fa3c63ddcd0ec7ab704e518cdd71d3db950","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012740","is_excluded":false,"label":"Papilloma","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"19e261054b373c4f254741c9294a3ba7195f974b0963ad94590abba766841ef6","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278740","disease_name":"Xeroderma pigmentosum, complementation group E","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000992","is_excluded":false,"label":"Cutaneous photosensitivity","onset_id":null,"reference":"OMIM:278740","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1c1711f31603fe45edf700817c1aa6ae8f876611549011acb1994f549def2c7d","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001097","is_excluded":false,"label":"Keratoconjunctivitis sicca","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1c895e2008de46dbaa51ef79b116e17107023886c7edeed93ab551f50f569d3f","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000992","is_excluded":false,"label":"Cutaneous photosensitivity","onset_id":null,"reference":"PMID:36866916","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1dd4bf068e7b55e7050073f15988c48f991b849cdc2db77ee8d882728791fd82","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002664","is_excluded":false,"label":"Neoplasm","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1e1f286435a9a02788da3476c73d713323f73161a2701cfefba486bd74d62ff6","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001945","is_excluded":false,"label":"Fever","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"22bfe2ad2bb5b9e36f7002c0ad9d98dd4e9b4b8064411afdd3b836ca999cee37","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"232fa5055628b17bbb07a80edca431f58e579f226bc7319c6d53f678b4491e83","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278780","disease_name":"Xeroderma pigmentosum, complementation group G","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000992","is_excluded":false,"label":"Cutaneous photosensitivity","onset_id":null,"reference":"PMID:23255472;PMID:11228268","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2436670c507c37205241d82b3833b0e4dd24c5067898efbd3b3d0cfe1bb1384e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:278780","disease_name":"Xeroderma pigmentosum, complementation group G","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001761","is_excluded":false,"label":"Pes cavus","onset_id":null,"reference":"OMIM:278780","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"251de43985fb84c3546d83d431f6459411a5f91929acdcc92691aa86c9b33b34","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"26a180a3ed5f3e2fe54b4409fdd236592edd20b15b2f9591194502e242c8a44e","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:90342","disease_name":"Xeroderma pigmentosum variant","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002861","is_excluded":false,"label":"Melanoma","onset_id":null,"reference":"ORPHA:90342","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"277da3375273720b08b67912b835d54eaf1b50c6e47e20fca8b21cf6fbb9071b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:278750","disease_name":"Xeroderma pigmentosum, variant type","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000656","is_excluded":false,"label":"Ectropion","onset_id":null,"reference":"OMIM:278750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2a0df271a27c05bd04106929249ee7fd798acc7980a0265b316688c027474c1c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002936","is_excluded":false,"label":"Distal sensory impairment","onset_id":null,"reference":"PMID:34484303","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2a4e379f30f06a7dac487231d318c64d9ec164d46803f7cb8a6e47ecf0e8e6f5","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001029","is_excluded":false,"label":"Poikiloderma","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2a6774f4a73936ac611e620c5a3e8cae9cec6fb743bc49a34fc060dae6c0ad67","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278750","disease_name":"Xeroderma pigmentosum, variant type","evidence":"PCS","frequency_raw":"0/10","hpo_id":"HP:0012056","is_excluded":true,"label":"Cutaneous melanoma","onset_id":null,"reference":"PMID:36308448","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2a8fa6b6dc6bfd388e20a531a765afa8274ef05947f5395e75260a5d31e8de4a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278750","disease_name":"Xeroderma pigmentosum, variant type","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0000252","is_excluded":true,"label":"Microcephaly","onset_id":null,"reference":"PMID:7264357","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2c5cd9cfadbfb28ca747e52341ac8b1e29990d589e13e35deca9cbd93ca31514","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":"1/1","hpo_id":"HP:0001268","is_excluded":false,"label":"Mental deterioration","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"2c795a64fc240cfc3f64225ebc9e20833d5921e1112b7f7c8038f3c3dcc4dd28","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0003213","is_excluded":false,"label":"Deficient excision of UV-induced pyrimidine dimers in DNA","onset_id":null,"reference":"PMID:9579555","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2d3f1cb4729e13d5b91c3f7a1ce36bb8a292602d77d0aad0e4c543403d759771","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278750","disease_name":"Xeroderma pigmentosum, variant type","evidence":"PCS","frequency_raw":"2/10","hpo_id":"HP:0002671","is_excluded":false,"label":"Basal cell carcinoma","onset_id":null,"reference":"PMID:36308448","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2d917b08890068bf9e07499dc926ccf6e5cd82e34f6c1fb1bef68b4d17ce691e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008734","is_excluded":false,"label":"Decreased testicular size","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2ded415a71c740dca7da86d973d83a061291dd5a1b35f563ba84ff4d9eeb8e17","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0010783","is_excluded":false,"label":"Erythema","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2e49389fb372330b2aa7eb8df65c1d94e1368b9a00620baf31a40f9e023a395f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000656","is_excluded":false,"label":"Ectropion","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"30f5ff5619c8973edd16e8ce39b25cce702f3a92d596084ff22ad3381782ad7f","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"3105c03b11594026dcdc8c16fa528d53c07f9ec0c66af373ca9432ee8b9cf3fd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"312e05a2542e465857ac7e0678f3a6a3892a514296bfb7c59c947b602ddc61c9","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000992","is_excluded":false,"label":"Cutaneous photosensitivity","onset_id":null,"reference":"OMIM:278720","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"31704b98fce8f45a2237acbb4e1b5b9c9e40ea22699361ee3d89fd35b4de3573","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011400","is_excluded":false,"label":"Abnormal CNS myelination","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3252841aa191ecdbed68465ada73922d4767164ea894313a16efc857fde4c676","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001059","is_excluded":false,"label":"Pterygium","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"328147383ac337c10bf65592b7be3bcdd6880caffbd3d655071ea92985ce75d1","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000958","is_excluded":false,"label":"Dry skin","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3412f2d0a15f5f199e27b205ff529c9885818dc389d2a0b41192dcf23d1383c6","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0034275","is_excluded":false,"label":"Verrucous epidermal nevus","onset_id":null,"reference":"PMID:34484303","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"35cda577caa795b4b006fe3eb834a427fb95d98c20412c3034ca6bdbb21761e3","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278750","disease_name":"Xeroderma pigmentosum, variant type","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001029","is_excluded":false,"label":"Poikiloderma","onset_id":null,"reference":"OMIM:278750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"37b64e5cf9dbe5a7b575738315a6dee6152d6414ebcdbf7c07fa2076c5386172","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:278740","disease_name":"Xeroderma pigmentosum, complementation group E","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003079","is_excluded":false,"label":"Defective DNA repair after ultraviolet radiation damage","onset_id":null,"reference":"OMIM:278740","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"38ded87d2c35c6c950ea3d27e55984b6306131cb9e045d68892c2de2cd8ba3bc","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003355","is_excluded":false,"label":"Aminoaciduria","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"396da93ffc9890a80d9b68ee60b5daf88a7722f74e3c9a1696140a5be6d42be6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278780","disease_name":"Xeroderma pigmentosum, complementation group G","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0012469","is_excluded":false,"label":"Infantile spasms","onset_id":null,"reference":"PMID:11228268","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3c42c25168c933be36adaf8bf7f434728e8d02052ef2c38e57310243a2335d5d","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278780","disease_name":"Xeroderma pigmentosum, complementation group G","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000568","is_excluded":false,"label":"Microphthalmia","onset_id":null,"reference":"PMID:23255472;PMID:11228268","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"3c566a4caeb147e7a751e08e5c60fa39e6f83b9f8355e86bb881c6c8d8ec7e35","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001009","is_excluded":false,"label":"Telangiectasia","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"3d67af53106e0897b796f9069a71690a399ff0318b44431ef03257685a54e9e0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000656","is_excluded":false,"label":"Ectropion","onset_id":null,"reference":"OMIM:278720","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"3e508b74926dee297acc0797030f4a5a2de3b14a62179f88db0d8f02772398b8","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000613","is_excluded":false,"label":"Photophobia","onset_id":null,"reference":"OMIM:278720","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4a48fe0e0d118bda32d6d2dbb0bb38a31b3f3dd62e9870f7ced339ca43e085ba","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"4a8afe5fed28e654fdbbb69b2707fe5ee44ba3257b214f42e4e271ce76b6813f","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002861","is_excluded":false,"label":"Melanoma","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4abeceaebe35abe7d65ecabfc5d13f104e3631e05029660b14a2effc4212d863","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278750","disease_name":"Xeroderma pigmentosum, variant type","evidence":"PCS","frequency_raw":"10/10","hpo_id":"HP:0007603","is_excluded":false,"label":"Freckles in sun-exposed areas","onset_id":null,"reference":"PMID:36308448","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4aed7244c31cb142632ffdb9788463599f1931ae9c9259b5c5d910e9afcedcb7","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000491","is_excluded":false,"label":"Keratitis","onset_id":null,"reference":"OMIM:278720","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4dd973d5fe1a4c8dbf89f5dd4a0cb5024664f6a62b6813bd48d5da4effe6bde4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002135","is_excluded":false,"label":"Basal ganglia calcification","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"4e1de430852e028918c57f6cdf45acfa0783906ea0da08eac89e467015131dc4","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004334","is_excluded":false,"label":"Dermal atrophy","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4e4cd94f2e6f9383556a1e4143780b4c041926db9d91cea74a94f46dc2d4d48a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4e669030f5935776c2fc097285c3fc70da0a29eab95496ead530ca5265f4b108","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002119","is_excluded":false,"label":"Ventriculomegaly","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4eb343242dd0173cc6f5fd6e3e6ba0cfa942a8e2c477be3ab7e6751a83dd3bb0","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000509","is_excluded":false,"label":"Conjunctivitis","onset_id":null,"reference":"OMIM:278720","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"4f33c0fc5bdbaa873e6da9fb569a8b08dfec6022a0d17ba93178129090436884","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004325","is_excluded":false,"label":"Decreased body weight","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"4f714913d6587c13ce3d77a2df7ae9697266f4a93287ef7687ded75da902506e","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100012","is_excluded":false,"label":"Neoplasm of the eye","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"52b2ed117146f3f8fecfb09f1d6a8f39a1249120b03bedcba79ed12b224ecbc8","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000568","is_excluded":false,"label":"Microphthalmia","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"543ed49b2f0054adc109056c5ec6de62b9f9c3858f62e1cc055b3a806b63de11","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002120","is_excluded":false,"label":"Cerebral cortical atrophy","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5547fb2c95d0f65538b7114e1f729d18ae8f224dc402818ac88d687939c57dbc","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007759","is_excluded":false,"label":"Opacification of the corneal stroma","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"55d6d0d55273e1b7de1bc3a828f7f1fb86794ab93291470db4986a167f1ba373","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:90342","disease_name":"Xeroderma pigmentosum variant","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000953","is_excluded":false,"label":"Hyperpigmentation of the skin","onset_id":null,"reference":"ORPHA:90342","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"56515202e111780c181421caad486de5e76216e25ba6ee54145c23f1eedbe18d","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0031287","is_excluded":false,"label":"Seborrheic keratosis","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5782d73958528ffa020429aa5d30c1df2f1ae6bbab58fa726d22a1504112ef1f","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003079","is_excluded":false,"label":"Defective DNA repair after ultraviolet radiation damage","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"57f13a3e77ac4ef3202876d1e7d57f0372ee084872929cded24bd331066112d6","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000992","is_excluded":false,"label":"Cutaneous photosensitivity","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"599628a56f65a6fb4f797063caa86fa968c47f0221ccbe4f3f3c2e83c5d7c9a6","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278750","disease_name":"Xeroderma pigmentosum, variant type","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004334","is_excluded":false,"label":"Dermal atrophy","onset_id":null,"reference":"OMIM:278750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5a2f1e43da3a47acf4be2f5fbef1ebe0e8c6de94447539b58810614effffc723","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004334","is_excluded":false,"label":"Dermal atrophy","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5a4ee3dcf5fe97c514efa5aa8cc9345ccf2391ce0c83cd7d71c5ecfb5be6d10d","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:90342","disease_name":"Xeroderma pigmentosum variant","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001010","is_excluded":false,"label":"Hypopigmentation of the skin","onset_id":null,"reference":"ORPHA:90342","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5baf4242ae7417a8994a6eae1f12dd337644098301561216eacce33924785daf","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000135","is_excluded":false,"label":"Hypogonadism","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5cdeb75d32024c55e2547cb90b2ed6da831a55013eeb2c4fa71db8eee06d4539","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:278740","disease_name":"Xeroderma pigmentosum, complementation group E","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000621","is_excluded":false,"label":"Entropion","onset_id":null,"reference":"OMIM:278740","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5ce435c972b0e93ec0c43ddaf9f5457ff5d62863180a33d70bb0dba3f4175d3a","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004334","is_excluded":false,"label":"Dermal atrophy","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5d163976b47b9deb1ea4859fc3cc157473cbd74f9431d3dada1773d0653e5de5","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5e584516d1cbe762ea3b9a209982eec98a1c12eb0b1884b362fbe9b975b9f6fa","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001072","is_excluded":false,"label":"Thickened skin","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5f016758d76934015db9ab550199e0a26038aa60bba9376f7ad792851734f879","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000509","is_excluded":false,"label":"Conjunctivitis","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"6112371812e23a2fabc72846b1d2750bf300639d59abf00e3846a26fc1b6e5ef","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000621","is_excluded":false,"label":"Entropion","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"61ddd5347f611af95c457c3c6f0f29ba3cba1c8bfc6675218164c8af45b6b1f5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001337","is_excluded":false,"label":"Tremor","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"633010486ecc62fadd8b2b78a2ae8927f07b9bfea78918a78b1afc0812889d29","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000524","is_excluded":false,"label":"Conjunctival telangiectasia","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6414e634425dfd940ef2be46449794593cc23dc493e8b5633ee0dedf920dd235","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000995","is_excluded":false,"label":"Melanocytic nevus","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"646e6664b7a2c877afb8aab186a8f3f311a456f9aa00f636a5065533988e9a36","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004334","is_excluded":false,"label":"Dermal atrophy","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"6735b92121e422f1da012f298af4f8567faccc5143559f27653abef46aa9dd12","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0001480","is_excluded":false,"label":"Freckling","onset_id":null,"reference":"PMID:14662655","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"67de9b404511e98dda7abcc629255005761f961db9ed9f082bd52c5ba718893f","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000491","is_excluded":false,"label":"Keratitis","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"6b8dba0aed039b6e417413f5f8c12300dacfeb18b37ea96b388a6f48303fab5a","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0002671","is_excluded":false,"label":"Basal cell carcinoma","onset_id":null,"reference":"PMID:14662655","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"6c0f7c4f3028d7d38f2d1461eb8a8c99c12f5f5ed3b1774589ab0d1b4139f0dc","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001480","is_excluded":false,"label":"Freckling","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"6d7150bbf285b339b59b10ef36b71865d938a3d27c23b3e0d4ff047ef8906ca6","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7029ae5f81c18b9085091ee98cf1640b41f7e3dcf67d20ba0f4ead93ab85a215","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:278750","disease_name":"Xeroderma pigmentosum, variant type","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000621","is_excluded":false,"label":"Entropion","onset_id":null,"reference":"OMIM:278750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"7139f41c3ea73b6418bca4e55f31f6ac45a7bf1c0821fdc654746735eece0ac8","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0004334","is_excluded":false,"label":"Dermal atrophy","onset_id":null,"reference":"PMID:14662655","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"72df42ddfdea32145b2fbe9722c3c61200677f792bc2c4c81a5012f129ecd785","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"PCS","frequency_raw":"2/18","hpo_id":"HP:0002860","is_excluded":false,"label":"Squamous cell carcinoma","onset_id":null,"reference":"PMID:9579555","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"74e704a700c45a7ba144168a814c83c3e645671b156cec3b6fe2d34941798b8b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001371","is_excluded":false,"label":"Flexion contracture","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7545b45d8617f17a54d0a95edea3d9cf6e7254563fc416f31e5458922686129e","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278740","disease_name":"Xeroderma pigmentosum, complementation group E","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001029","is_excluded":false,"label":"Poikiloderma","onset_id":null,"reference":"OMIM:278740","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"76aa40cd61aa8307ba7f787272c5fcb6a0a946cf1685a8966839f383067a5b0c","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000613","is_excluded":false,"label":"Photophobia","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"77216e8fd4fa5d9596e72789c6df44400e5321c7f8774d4d6afa3f7cfcfe89e7","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:278740","disease_name":"Xeroderma pigmentosum, complementation group E","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001009","is_excluded":false,"label":"Telangiectasia","onset_id":null,"reference":"OMIM:278740","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7bfbcb6b9718d31d9cf02706d7d6bfffdd027c862825fcb6c040916b1241bba9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7d28474e754b6bc6ed4cfcc237a6d795fa4a315a66f510bf93a9d867f718c69f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001315","is_excluded":false,"label":"Diminished deep tendon reflex","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7d3c0a7b431c393c1e06514c02b7be2907701b6228a373d39c0ba07030b36cdf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"82a4875198241bf727d5eb262795b6684a355250af1f06814e3b84d5b1ab54aa","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000962","is_excluded":false,"label":"Hyperkeratosis","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"835b56bb08e7e217c8aea6cd52fb9fb6bbfb2d3b55fa879c835eaf498bab9395","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002664","is_excluded":false,"label":"Neoplasm","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8382582f75c198cbd38475aa3eadd30fa6e89878a8f65a4fd7f5eb4a4ab88c1c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000621","is_excluded":false,"label":"Entropion","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"83da1c9aaf6affbf30276e9fbb69d7444a3490bb500919b17e07ae930470fdbb","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000613","is_excluded":false,"label":"Photophobia","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"845b2eec330f908145c92289cba7d48236248ae07acdfe291f4c8f40a9ceb7c9","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:278780","disease_name":"Xeroderma pigmentosum, complementation group G","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001518","is_excluded":false,"label":"Small for gestational age","onset_id":null,"reference":"PMID:11228268","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"84c7fc5ddcadc5ac7b9b6ffb7012ce9f6327b9be3255efbca44e768b22b7d014","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100543","is_excluded":false,"label":"Cognitive impairment","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"86c8749480dc874e0fd3c7517da0a21f02894d49ea16086739e74a3a41b8be16","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011496","is_excluded":false,"label":"Corneal neovascularization","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"87b3d5c1c563fd60239f92209f5bf87d9e9efe18834496a683d1de8f18a92dd9","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278750","disease_name":"Xeroderma pigmentosum, variant type","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000613","is_excluded":false,"label":"Photophobia","onset_id":null,"reference":"OMIM:278750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"87faad1f35f05ecb06b1079d763cf97002fa3e5ef3010b13e009bcd399505d60","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278740","disease_name":"Xeroderma pigmentosum, complementation group E","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0006739","is_excluded":false,"label":"Squamous cell carcinoma of the skin","onset_id":null,"reference":"OMIM:278740","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"88320ce6251085fb91fc99e606a93516fb637c10f20e4862eae6b6f5b3a8dc27","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000491","is_excluded":false,"label":"Keratitis","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"89850ce4c0555ca2f0f1eee95018f8aa41fa4c030c7ed0e7d62435ab662e72cf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001268","is_excluded":false,"label":"Mental deterioration","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8b73d7690e6a65f0a24a04a1a5adb3732390649a3e6637223a9f9f2f8204ad10","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8cf4995a813b0c49f346274318f3a0f9db72c35ab8d589177376c205fd1ec72b","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"PCS","frequency_raw":"9/18","hpo_id":"HP:0002671","is_excluded":false,"label":"Basal cell carcinoma","onset_id":null,"reference":"PMID:9579555","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8d62cf04f71f9e81640649e89ea6942242642a17a3ee1d7c22ed74e4de06f6fb","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001009","is_excluded":false,"label":"Telangiectasia","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8e083305119f0631ce4b1fc85620d88f6be9198d8b62588f1e7e3f91e0a11f4b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8ec1a5c360fc1e9885cd4dcdc174f4b32ad950c493eba1f1823f695915a438d4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8ee63c6ab39abafaf1686b24c04d71934027ef8c5912d52dc2aa07a5ca16b5a6","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001009","is_excluded":false,"label":"Telangiectasia","onset_id":null,"reference":"PMID:14662655","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8efb1553396cc392971d6c601f0bb6b4c868ca8b369bffd6e775aeda0c4bf8a8","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000483","is_excluded":false,"label":"Astigmatism","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8f20ada6bfdce6bca5ecb9e5558aed10ec00e38384e9f42364057e2e11227b07","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"915f26c13e31277bd9f60811773f4c6a76da32bab450a0f2a7925ab062125703","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"PCS","frequency_raw":"14/14","hpo_id":"HP:0010783","is_excluded":false,"label":"Erythema","onset_id":null,"reference":"PMID:9579555","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"918fabc0fcab3771be88454da2106419e877d346371502d0774e2733c6950a49","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000656","is_excluded":false,"label":"Ectropion","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"92ded0622a8aed1b8be083a736e9c03a74f72dbe52cd3531a79cacc5b40ef485","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0006739","is_excluded":false,"label":"Squamous cell carcinoma of the skin","onset_id":null,"reference":"PMID:14662655","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"93da2d0afb9d6733050a1862adadce265a49f1ea423c08ccef9568ce4079b401","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"IEA","frequency_raw":"HP:0040283","hpo_id":"HP:0002011","is_excluded":false,"label":"Morphological central nervous system abnormality","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"94a9f51fe7025030982116e4003fe870a4da34b92d8d624cae8f1c62089d8ee8","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:90342","disease_name":"Xeroderma pigmentosum variant","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002671","is_excluded":false,"label":"Basal cell carcinoma","onset_id":null,"reference":"ORPHA:90342","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"95dad855e18a25b129138f9e40efd14f868c9d8e18d1583f18d9c4cf6a81d95c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000621","is_excluded":false,"label":"Entropion","onset_id":null,"reference":"OMIM:278720","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"9670eeb67f530364f402ef02b11acd7e0d6b823e1c6b54f9940b772ba23fa60f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"967103f4f94f004890d8a7a98170d9a77a98167a8de3aecfa3ba92f3c70bb924","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"969a744781458f8bd32cd42b36564227522ab607dbab8fc8a33f1f174b4d2ea9","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000992","is_excluded":false,"label":"Cutaneous photosensitivity","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"972ef71c22d9b9b6dc65a22b4f558efc8f67c18ec8aa64843dc0fa602186ef26","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:90342","disease_name":"Xeroderma pigmentosum variant","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001029","is_excluded":false,"label":"Poikiloderma","onset_id":null,"reference":"ORPHA:90342","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"995a655a31ccd6ea6f5215b9e73ac9869e18f3974dab57084dc8e704293cb53f","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000992","is_excluded":false,"label":"Cutaneous photosensitivity","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"99c78e9634f923c21bbf222e368e1adb804beb0601aad89b5da7091c48caafef","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002861","is_excluded":false,"label":"Melanoma","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"9a98d08cdf3db3e2a59b59ed1b187c3570eb667a4fadcb8bea143a84c834590e","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001029","is_excluded":false,"label":"Poikiloderma","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9ad6488e77d78ce4fae42015d28b51ff248f66fec3d7570a5c2d98dcbaeb27c0","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9c7e470d23b152767dbcde6713ae15c852399bb4831185f96f68d6d0668adec2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002376","is_excluded":false,"label":"Developmental regression","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9d5cbdc1fba3f92404a46358339d0e0cec974b007811b8e3ddab488249be2356","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000762","is_excluded":false,"label":"Decreased nerve conduction velocity","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9e0d970002a24909e141ee54b53192c744f3873a434633be1c4c02d3c70c6682","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010649","is_excluded":false,"label":"Flat nasal alae","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9f39740e883641f33db2c71cf1aa5dd4b2317a34297d2a2048851d25ae24e9a8","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0012056","is_excluded":false,"label":"Cutaneous melanoma","onset_id":null,"reference":"PMID:14662655","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a06fe45d61e844ae372f7ac7c7dff0cdebac9428dde7854fbcb3268d16b09de9","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001009","is_excluded":false,"label":"Telangiectasia","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a0fb3746edcbd6e3a565e331978d001fdcc151d48426e9516036cb0e341ebb72","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:90342","disease_name":"Xeroderma pigmentosum variant","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000992","is_excluded":false,"label":"Cutaneous photosensitivity","onset_id":null,"reference":"ORPHA:90342","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a21091820c8f5ca5b58946975a3b30837f51a15984f8da226ea8e11045ffd010","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001034","is_excluded":false,"label":"Hypermelanotic macule","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a26b04cca332e8e942aafd999f2408fb844abef35286aab01fd704dd316665d9","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:90342","disease_name":"Xeroderma pigmentosum variant","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004334","is_excluded":false,"label":"Dermal atrophy","onset_id":null,"reference":"ORPHA:90342","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a298bffa7ee3d732f97ec4f8addfbcf934e1103dd23f8de12817e34a49169a8d","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:90342","disease_name":"Xeroderma pigmentosum variant","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001009","is_excluded":false,"label":"Telangiectasia","onset_id":null,"reference":"ORPHA:90342","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a3ebc069d7a95f1eb6b61eeecf7a48851e9368448e26073b5861133b851e0f25","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000498","is_excluded":false,"label":"Blepharitis","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a54e2182a0ce7a7b54ff1ad45d62c433ac4ca58c6ccd43a1f27e080fc93634de","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001265","is_excluded":false,"label":"Hyporeflexia","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a65879955b60a7875aa870a13b291633070ab6aaf5f1ee8875cd35c23b708e1c","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278740","disease_name":"Xeroderma pigmentosum, complementation group E","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000491","is_excluded":false,"label":"Keratitis","onset_id":null,"reference":"OMIM:278740","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a6adf359232e24eb7325fb8a81093983615d2dd6fdb4a2c3f8ceaf104be0e854","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278740","disease_name":"Xeroderma pigmentosum, complementation group E","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002671","is_excluded":false,"label":"Basal cell carcinoma","onset_id":null,"reference":"OMIM:278740","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a7a5adde631010f4e036dfcf96a571141d5e4cfa9baa083af30de7128d2fcd8b","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000963","is_excluded":false,"label":"Thin skin","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a7d27aa8b7d943c838b938d9643ff12d1aa4f4e025e41037cc90493fab5e5ac6","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278750","disease_name":"Xeroderma pigmentosum, variant type","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000992","is_excluded":false,"label":"Cutaneous photosensitivity","onset_id":null,"reference":"PMID:7264357","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a9107f4771516721df2f01a690f5194f8f87e6ddb4e224df02997b78352549e7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278780","disease_name":"Xeroderma pigmentosum, complementation group G","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"PMID:23255472;PMID:11228268","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"aa5eca2d0e18d2e9fef8f3b0cbbd3de93b6bf9de157902f4d70b8c7c6b391682","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:278740","disease_name":"Xeroderma pigmentosum, complementation group E","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000656","is_excluded":false,"label":"Ectropion","onset_id":null,"reference":"OMIM:278740","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"aaa1df5e643627670039b594ea118ca9cc51de619ea11d84bc639765a0b4e66c","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ac3e2006fb311ad1c8ac06f65da34c9a551eda60b61d4f9746795287ccdf43c4","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000509","is_excluded":false,"label":"Conjunctivitis","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ac528d7d685b8925d9f83fab5674da6d1ff239a33d50a988b8525204484aff85","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001034","is_excluded":false,"label":"Hypermelanotic macule","onset_id":null,"reference":"PMID:36866916","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"acebe9669c22e1f4a7d514bf8ef63d2c3fa3b9f6e072df8aefcee3e81a9102fb","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:90342","disease_name":"Xeroderma pigmentosum variant","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0007603","is_excluded":false,"label":"Freckles in sun-exposed areas","onset_id":null,"reference":"ORPHA:90342","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"aebccd9905af23cb4a961e4c64e7677221e7429df9205e3d1301f1c0ecdb811f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001265","is_excluded":false,"label":"Hyporeflexia","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"b0682a7dc2c539ce837eb57677d90478c45b800f55252aacf6c8bf4c47671390","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0012056","is_excluded":false,"label":"Cutaneous melanoma","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b0a72bcc10a905698c5b0beaa455961d2e36e83172603cce921bb3cdac59a6aa","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012378","is_excluded":false,"label":"Fatigue","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b248148f6e7728cd506f5a00ab2e53e1aa93a3604d1ed2e2fab786ccdecb4f44","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278780","disease_name":"Xeroderma pigmentosum, complementation group G","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"OMIM:278780","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b561f962aa9bf2e361329886ba0a344fd10b9e954ba8d7124d843dcf727d18ff","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:278780","disease_name":"Xeroderma pigmentosum, complementation group G","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"OMIM:278780","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"b93503090adf92417b2893dbfbe3cacb1027de27b8d7a5d9e863e82e2cc51e13","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278740","disease_name":"Xeroderma pigmentosum, complementation group E","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000613","is_excluded":false,"label":"Photophobia","onset_id":null,"reference":"OMIM:278740","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b944b757273c975e4175e2bfcb193deda8425878d08f5a0f8efebdfb21723881","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:90342","disease_name":"Xeroderma pigmentosum variant","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002860","is_excluded":false,"label":"Squamous cell carcinoma","onset_id":null,"reference":"ORPHA:90342","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"babc61af34936a7a401a336099b16c3f033345353a68a0a53c81e71d752e78aa","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002071","is_excluded":false,"label":"Abnormality of extrapyramidal motor function","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bd6fc1fd588304fb1b20567c00fcdab1362cd46f6bb9d6e10ec2ee3c3924ed81","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000491","is_excluded":false,"label":"Keratitis","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"bf4a22d0af429b39f7eee2af554728a7de711eec199fa29326b54f51194a7cb6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bffd074d6a1b725b99242bc164b5abb086ec26d8c7c13e90ef52c683405ae84b","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002861","is_excluded":false,"label":"Melanoma","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"c0446cf502995f910df12a207830e9b58f2179bf219b6a90a07e69134de74b66","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:278780","disease_name":"Xeroderma pigmentosum, complementation group G","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003079","is_excluded":false,"label":"Defective DNA repair after ultraviolet radiation damage","onset_id":null,"reference":"PMID:11228268","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c1b6bf2e89212e13a1102748874fc7c60766ca2d95dd928a11242e3be05e1ed8","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90342","disease_name":"Xeroderma pigmentosum variant","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000491","is_excluded":false,"label":"Keratitis","onset_id":null,"reference":"ORPHA:90342","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c2d0e7a3012adb20ede19fe3fc3ee554a05a07ef0078aa7c4ee8be2de69c6986","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c3f03a48aee1f24c1a3398334ccdfd2a94d5a3683177b6fed61f241e042927e3","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000490","is_excluded":false,"label":"Deeply set eye","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c4534f1ae10971fe4cce79e470f536b17b068d8c0cc52e3b7984e185945bc1f2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c460e9016e8917b42f7d1b50853856020e56fa9370cb030b4ce5d8d8bad84f33","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c48a0f9ae1306062993e8f6335dd54d731e1a98070f3519d35be8510d9fdfaa4","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c6ae30663950f5528d40d77986fc1ef7b06e17a4ffcdc99898eb70d6cb02080c","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c8859447d48e958a477577967dd33a137686d567bcbc2bfe723d448be0fcfaad","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000648","is_excluded":false,"label":"Optic atrophy","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c8bdb18c92bcb4eb28a6a599fe0fc2c1c6f714c9b7f79477eda46bbc108317d7","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c8ebbb5adce68fcc3c9f5bd8d4972e5ea52ac454b8bd12dbf97e1f37ee23ee7d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001266","is_excluded":false,"label":"Choreoathetosis","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ca62c78b866a3a6c5fc90079611a6ace7be43e1d23d2e43ef44efad89c74c8c2","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001480","is_excluded":false,"label":"Freckling","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ce1c18307beb0d7db54ff4caac9a47787a711762f74842110e6efce052f0feaf","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278780","disease_name":"Xeroderma pigmentosum, complementation group G","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"PMID:11228268","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"d1cefbf38f715dbebbcc2b10c7356aeed2ffc3083055b432117aea3989db7703","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0006739","is_excluded":false,"label":"Squamous cell carcinoma of the skin","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d1eda27f8b44abee1000f8ffb438a9116e385c20b84a31bee4b60ff6c58a4629","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0003079","is_excluded":false,"label":"Defective DNA repair after ultraviolet radiation damage","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d3198987a2fdf4cd27afd4d85eea7ce389570a2902905625da4112c9b5a8c243","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001596","is_excluded":false,"label":"Alopecia","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d3b5eac4873f06c75f96c4f01b35e64b6f83fe09d91c7a8773008da72f1caf5b","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278740","disease_name":"Xeroderma pigmentosum, complementation group E","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000509","is_excluded":false,"label":"Conjunctivitis","onset_id":null,"reference":"OMIM:278740","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d4de903a814ebcefcdc5c49927f5d0291ff53573370982239c9e0355d529ddcc","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278740","disease_name":"Xeroderma pigmentosum, complementation group E","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004334","is_excluded":false,"label":"Dermal atrophy","onset_id":null,"reference":"OMIM:278740","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d525f172e1e964de3f7c73cb7c9eeacbbd1c0da73a01a81d369d237a0464e361","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007587","is_excluded":false,"label":"Numerous pigmented freckles","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d590952fcec1c695f687cc9d8056d99319226e06b9cccdcd8c9e042f84ed9e81","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003079","is_excluded":false,"label":"Defective DNA repair after ultraviolet radiation damage","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d664379172050fb427a4262c23e5f7bb256e3ef99609bb9a707c8467bb27a612","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d775e96c09a86ffc1b8aa8518e42204e7400802fd363f9784a0da84155f7d6af","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d86675fb3048f9febd18f820b28b4067c815c2e4527b7836b0c2b68f227f1fd3","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001029","is_excluded":false,"label":"Poikiloderma","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d8a0216281ae033e265b5165b767d5c61e56d438033e965e082b02b8efd4dddc","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001029","is_excluded":false,"label":"Poikiloderma","onset_id":null,"reference":"OMIM:278720","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"d8c35d88441cd4f091fb53466225b308b1cbf355e3f0e488efeabedd83f1fe96","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278750","disease_name":"Xeroderma pigmentosum, variant type","evidence":"PCS","frequency_raw":"4/10","hpo_id":"HP:0002860","is_excluded":false,"label":"Squamous cell carcinoma","onset_id":null,"reference":"PMID:36308448","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"da1658893a0cd35ef8299b8182d42ad86b0581e4cf7878a000be6faa0305db56","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000621","is_excluded":false,"label":"Entropion","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"da9cb6a3b610772e5334b8606461656373d0336a2154e9e7c72f0fa9d4feccb1","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012733","is_excluded":false,"label":"Macule","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"dcf1907ff40fd67b91bf3d7a72bc1bd5533e7ed69eac73bbc8dde806d1ec593f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001761","is_excluded":false,"label":"Pes cavus","onset_id":null,"reference":"PMID:34484303","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"dea2bc900d1445ee0a052e2745c60fcef0209b0e1eb3341004bac5b72a2a0cfa","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"df52906bfeefd6dc721bb342ecbbf5c341801acf0470f4b1e365c0ee27e8aa0a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"OMIM:278700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e0485e70ad1af427f7c609e1d8782035a26f20e95e2bb178c895a609b7878b31","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0009830","is_excluded":false,"label":"Peripheral neuropathy","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e38fb2a1a9e0d35c14975e73aad98d9d28d192276cc9827089b02e2237275c54","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012444","is_excluded":false,"label":"Brain atrophy","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"e40e1b4d886776d115849aa5ae3775d5cfa15eb640046d7ee0b0d7f382026486","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278700","disease_name":"Xeroderma pigmentosum, complementation group A","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0030350","is_excluded":false,"label":"Erythematous papule","onset_id":null,"reference":"PMID:36866916","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e55c5e0d2e0ec66771c57dd9a1ee8833f1ab4b7f0561d1ecc8b0426a3719f10b","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001010","is_excluded":false,"label":"Hypopigmentation of the skin","onset_id":null,"reference":"OMIM:278720","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e5af0748e770f75735c7e918c14a877599d3d8ea0a837ac0880a6a6ac2778a4a","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002671","is_excluded":false,"label":"Basal cell carcinoma","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e75db9cb5322ab32aa230fec03f42c0da4ee30664c20063ca021b24be9b12116","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e77670d6c1e373bcb12dbf171eb573354e4d0ff447b0a14268970516897eb4e6","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"PCS","frequency_raw":"18/18","hpo_id":"HP:0001480","is_excluded":false,"label":"Freckling","onset_id":null,"reference":"PMID:9579555","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e8766d5e1019b00565b3870232787bc63b076995a099208bcd49f6ca8f7d15ef","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000992","is_excluded":false,"label":"Cutaneous photosensitivity","onset_id":null,"reference":"PMID:9101292","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e8914b801dc03ebc87aeec58b968286947f17b44ed97f8fa0eaf46a0dfb1427a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"eba359e4b095caef6b11769ae545ffa27ef3d702fec8fd5cdc279d9b20837a9a","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"IEA","frequency_raw":"HP:0040283","hpo_id":"HP:0008069","is_excluded":false,"label":"Neoplasm of the skin","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ecd84ddf6f7d3d285b499190ccd9948be93ac2eb62e3e78789bd31f752cc2d8e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0009755","is_excluded":false,"label":"Ankyloblepharon","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ece689173de0b5e19d3f64f87d530baf2216cab1d78ad8ba00a85889d4ead8fb","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f094856d952564cfd877124da0677abe4f1cccff6d008d0ca0a60a64d4da3cba","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000580","is_excluded":false,"label":"Pigmentary retinopathy","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f0e85a457341f43121d39da72649989f9011e5b45d8d4803773e097e56c87b6e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f17c321eee27f668ae55a46848ddeacc9bcbb945fde37f0db02bfaea006fc8b1","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:278720","disease_name":"Xeroderma pigmentosum, group C","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0025127","is_excluded":false,"label":"Actinic keratosis","onset_id":null,"reference":"PMID:14662655","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f256ed49aca5759550bf9e83a63b33866b7a86f70a8cc55174a81c30b71283b1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278760","disease_name":"Xeroderma pigmentosum, complementation group F","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000726","is_excluded":false,"label":"Dementia","onset_id":null,"reference":"OMIM:278760","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f26b408bfaa4a7f9ff3061de96d7808a21c8ba34e2ed3256c350c61e994c4c9b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000164","is_excluded":false,"label":"Abnormality of the dentition","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f50dddbdd0059c342f31615f93f34b50bd4d6c7f66ca88fa81a7eeb988b90c27","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000656","is_excluded":false,"label":"Ectropion","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f62d2c19b3826ea3fd0261b67b9b3b46e642f53b916cf5c326160bab0a3eeb74","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f6327ed7afaa622a8665d783676482126b405c42fb670bca3100d44cd037295f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278780","disease_name":"Xeroderma pigmentosum, complementation group G","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"OMIM:278780","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f7ff074ce4540168c61f57dedf582a85312605ccd138cbd8dd8c0c517e34f901","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278750","disease_name":"Xeroderma pigmentosum, variant type","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000491","is_excluded":false,"label":"Keratitis","onset_id":null,"reference":"OMIM:278750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f847df31f7782195cf9cd40b27d1d3ca39ca4361dd8fd7a5cac3986db63c7b67","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100585","is_excluded":false,"label":"Telangiectasia of the skin","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f980279e7d321f02161515cb6bf917d1183d006e3ac16f7d4e9da47afc9b9783","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001272","is_excluded":false,"label":"Cerebellar atrophy","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f9c6f84e462775879ded43e15203754bee50aff188db331b0bb8a11236ea180a","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005328","is_excluded":false,"label":"Progeroid facial appearance","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fab95cef06a0e651b4330f8135f0b384a7344e3847a8c46c7bde45438de93e55","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000135","is_excluded":false,"label":"Hypogonadism","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"faf281e8a995d01554dc9e19e64c8803a8a811f82b6dd3ef17fb52a3d5256efb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001266","is_excluded":false,"label":"Choreoathetosis","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fc24c1cb6cf120bd25daf20dadb8622819cf2ed45e0bb49938df7168431adeee","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001053","is_excluded":false,"label":"Hypopigmented skin patches","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fc61d76c2a77e19ba04aced80b5c5e49d291f09b15ee6d51412559c5bffce8cc","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:610651","disease_name":"Xeroderma pigmentosum, complementation group B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003224","is_excluded":false,"label":"Increased cellular sensitivity to UV light","onset_id":null,"reference":"OMIM:610651","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fea83d7066aec07898297f9cc51dcdee5170eac1348baa8d28087c9870e4bd14","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:910","disease_name":"Xeroderma pigmentosum","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"ORPHA:910","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"feac8d1730836db0259eb9126946018abd3b4f759f5169e868968a8048944737","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278730","disease_name":"Xeroderma pigmentosum, complementation group D","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000568","is_excluded":false,"label":"Microphthalmia","onset_id":null,"reference":"OMIM:278730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ff14c959f1317f8930c12a7b23de2c0357f2364b7bb160824fae8edb470f7a94","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:278750","disease_name":"Xeroderma pigmentosum, variant type","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000509","is_excluded":false,"label":"Conjunctivitis","onset_id":null,"reference":"OMIM:278750","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum\">Xeroderma pigmentosum</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Xeroderma pigmentosum is caused by variants (also called mutations) in at least nine genes: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, and XPC. These genes are involved in repairing damaged DNA. DNA can be damaged by UVR and by toxic chemicals, such as those found in cigarette smoke. Normal cells are usually able to fix DNA damage before it causes problems. However, in people with xeroderma pigmentosum, DNA damage is not repaired normally. As damage builds up in DNA, cells malfunction and eventually become cancerous or die.</p><p>Many of the genes related to xeroderma pigmentosum are part of a DNA-repair process known as nucleotide excision repair (NER). The proteins produced from these genes play a variety of roles in this process. They recognize DNA damage, unwind regions of DNA where the damage has occurred, snip out (excise) the abnormal sections, and replace the damaged areas with the correct DNA. Changes in NER-related genes prevent cells from carrying out one or more of these steps. The DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, XPA, and XPC genes are all involved in the NER process. The POLH gene also plays a role in protecting cells from UVR-induced DNA damage by bypassing the DNA damage, although it is not involved in NER.</p><p>More than half of all cases of xeroderma pigmentosum in the United States are caused by variants in the XPC, ERCC2, and POLH genes. Variants in the other genes generally account for a smaller percentage of cases.</p><p>The major features of xeroderma pigmentosum result from a buildup of unrepaired DNA damage. When UVR damages genes that control cell growth and division, cells can either die or grow too fast and in an uncontrolled way. Unregulated cell growth can lead to the development of cancerous tumors. The neurological abnormalities are also thought to result from a builup of DNA damage, although the brain is not exposed to UVR. Researchers suspect that other factors damage DNA in nerve cells. It is unclear why some people with xeroderma pigmentosum develop neurological abnormalities and others do not.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Xeroderma pigmentosum?"},{"bodyHtml":"<p>The signs of xeroderma pigmentosum usually appear in infancy or early childhood. About half of affected children develop a severe sunburn after spending just a few minutes in the sun. The sunburn causes redness and blistering that can last for weeks. However, some children with xeroderma pigmentosum can tan normally.</p><p>By age 2, almost all children with xeroderma pigmentosum develop freckling of the skin in sun-exposed areas (such as the face, arms, and lips); this type of freckling rarely occurs in young children without the disorder. In affected individuals, exposure to sunlight often causes dry skin (xeroderma) and changes in skin coloring (pigmentation). This combination of features gives the condition its name.</p><p>People with xeroderma pigmentosum are 10,000 times more likely to develop non-melanoma skin cancer and up to 2,000 times more likely to  develop melanoma skin cancer compared to individuals without this condition. The types of skin cancer that can develop include basal cell carcinoma, squamous cell carcinoma, and melanoma. Most commonly, the first skin cancer appears in affected individuals before age 10.</p><p>Without protection from the sun and other sources of UVR, most people with xeroderma pigmentosum develop multiple skin cancers during their lifetime. These cancers occur most often on  portions of the body that are exposed to the sun, including the face, the lips, the eyelids, the surface of the eyes, the scalp, and the tip of the tongue. Studies suggest that people with xeroderma pigmentosum may also have an increased risk of some internal cancers, including brain tumors, thyroid cancer, and blood cancers. Additionally, affected individuals who smoke cigarettes have a significantly increased risk of lung cancer.</p><p>The eyes of people with xeroderma pigmentosum may be painfully sensitive to UVR (photophobia). If the eyes are not protected from UVR, they may become bloodshot and irritated, and the clear front covering of the eyes (the cornea) may become cloudy. In some people, the eyelashes fall out and the eyelids may be thin and turn abnormally inward or outward. In addition to an increased risk of cancer on the surface of the eye, xeroderma pigmentosum is associated with noncancerous growths on the eye. Many of these eye abnormalities can impair vision.</p><p>About 30 percent of people with xeroderma pigmentosum develop progressive neurological abnormalities in addition to problems involving the skin and eyes. These abnormalities can include hearing loss, poor coordination, difficulty walking, movement problems, loss of intellectual function, difficulty swallowing and talking, and seizures. When these neurological problems occur, they tend to worsen with time.</p><p>Individuals with xeroderma pigmentosum may experience early menopause.</p><p>Researchers have identified at least eight genetic forms of xeroderma pigmentosum: complementation group A (XP-A) through complementation group G (XP-G), plus a variant type (XP-V). The types are distinguished by their genetic cause. All of the types increase the risk of skin cancer, although some are more likely than others to be associated with neurological abnormalities.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"xeroderma-pigmentosum","sourceDocuments":[{"name":"Xeroderma pigmentosum","reviewed":"2023-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:26:01.619502+00:00","label":"Causes","pageSha256":"71f62257e697ddc6a298927edea526d8e64055f2c9cfc171c2f90eacf185621c","sourceUrl":"https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum"}],"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":"Xeroderma pigmentosum"},"schemaVersion":1}