{"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:0008892/OMIM:211600","label":"Cholestasis, progressive familial intrahepatic 1","mondoId":"MONDO:0008892","onsetQualifier":null,"recordKeys":["01fa9c322f32e9ea9ec58fce7f271c886fcd6c0d3e37c4eb7945f2179a34a5b0","08ababb4d799549a1804fcc03501d84d118fda8530a0be1dee54c5527fe3abc3","271e9e26051cf34e2568ed69d71d9626701253579a83ea7bd5d1ed69f85e89cd","3b56a78e19cdcadfbfd2038d84a041c871fc7509f931c8aea31cbdbbc246f11e","415c39a490f35c23747cab2f9ea72f20d4ae5a58670226bb4c0258f845e84896","4948e8896a86e326f211308204ef144bf4ed349a316fe20e1edbfdf9b1dba5ac","60127331736050b86cefc3db32322f1037d74e37994211d7c8057e665908f97b","6d676ce97eb9438067b334a6164f2baca42bce2b2f1b7ae4fc230aa012667c71","73a47b8e1deea6fdf2f8c2a1edb186cbb64089666a823b3419adc1fd572d3027","9d4e6eb49cd177bb1b83d73d1cee9671ae003006671d8d9d2dfc66d3e6239b25","a0bf66b949491203ee9f6e1afb95c087c6f4a1c25da3efc2ea713786834a7b4d","a7bda22f172ac6918d3fcee4d6fad9608de39ad3108ebced2371bffa1243bc39","c7ed6461f24b1c0f5e581b6b834372404ba3063cf567e4860b02fd65841245f3","d493eae6532a955b970569f90adc4b65758075098888fa1532b75afb2a3a4637","e33cfcd76fba3a4e138937958c427b3cd3c41ac2b038ba15cfe4ac57e9337b36","f31e817357063f471a87e3492496db68e9a9851ae50b4a1efa22559229aaf7f7"],"recordQualifiers":{},"scopeLabel":"OMIM:211600","sourceIds":["OMIM:211600"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0011214/OMIM:602347","label":"Cholestasis, progressive familial intrahepatic, 3","mondoId":"MONDO:0011214","onsetQualifier":null,"recordKeys":["0732ad4b413ea6b34416378b4a92fc1bb4c941117b6822017b5f035857e25cb1","0aa5b39bdc1bd2f416e60c7753e50c43c44d83a121b985aa30c6d50cc659397a","1c7b2cae703cbc4e173958a12b70465886770f8d2c502d2e9de0b326e027f3be","1fa268d81b05b97881ab025d10d30d1564094879837de13c27222a7e01c9cf9d","279675431683890446002a4f7364b4ef395ae8b11cbe6d12d88a8c82c3180a04","5e2865ae64db73a87427c944504137982d583c23122b23b175c64d0a94989db1","7e9a367dd103c9a2b11dfb68450c230bff36fbafae65f61d44f056fef65c7078","836ad9a6004867a2897af6c5bee5f64c32b07f95cc8ce0f0e6f58a6dacce38a5","8aa39a44fc89cfb764f6d7cf672127b49e4f8894dda2c9ad2641dbf08e8fe1fe","8feba8c1e4ac9b0b4be82f8e1c8faa25751dba9fcad2395072dafec06ba30266","93f235dccc120bd5525eeed774d380d7300a22438a142de71c9d3da3576580b2","ba1ab19aef6e7f1644892f35a03cd26717fe01afe81b4ba3c0b2f543bd3971f2","dea1505e38c14fbc1edc7788747482321a4ddf1d3a496901d419f276e58733d7","ee7b331707a174bd2deae1fd8a20a3b0695ec72e2b3b37622c391b9d6f6043b5","f6503a39e998de7afe592efb5d7444c0b8f794a8b996a419b236c3582994a570"],"recordQualifiers":{},"scopeLabel":"OMIM:602347","sourceIds":["OMIM:602347"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0011497/OMIM:604901","label":"North american indian childhood cirrhosis","mondoId":"MONDO:0011497","onsetQualifier":null,"recordKeys":["28771b8ec5fbe80de6d30502f02354858d6d9814148acaa0987c426f0dddc905","3215f3a24131cda0e29d471d64a410f8ab6c0d31b015a44cae897e5862337805","71b7d06ec7c047bb6de425b63a5996cdb418cfdeb56a483ed3678a4251e52873"],"recordQualifiers":{},"scopeLabel":"OMIM:604901","sourceIds":["OMIM:604901"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0014381/OMIM:615878","label":"Cholestasis, progressive familial intrahepatic 4","mondoId":"MONDO:0014381","onsetQualifier":null,"recordKeys":["0e46dbbd8d777db391c61dba55ee0dd82e16e93ac3eb7e23ca6661ff60a3eca9","877663bdeef03868c13cf7a57f1b39bc444815ce73e37b43f420464b28b87c02","96435a03f063addfc463c2a69f5407bc167432c0187138873664267bd8292a14","e53c32a76f8c825e62e3f3471ef165379ae0afd93e832aa92357af9ef671e35f","f4d8de72eb79a36dd3f1e7578f9a00574f8b101200fca9e3ae60e3e96b346a9d"],"recordQualifiers":{},"scopeLabel":"OMIM:615878","sourceIds":["OMIM:615878"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0014884/OMIM:617049","label":"Cholestasis, progressive familial intrahepatic, 5","mondoId":"MONDO:0014884","onsetQualifier":null,"recordKeys":["0eca5c1534b9fa0fcea4a55be261e4333a20f562de057d057156969219597d11","4ad15d8b63961574d8cd99ff8db348b462ddcab18762d219049c18df80a13eb0","5752975d8f362820891ea1cab0129f2863dcf912c4b5654047785c486cb6b0ad","6998a5d5d05e1f75bf2e7ddbe8b39bd3d793288429cf01415bc84d87531adf79","77a74f3cf0fff98212182091a71e2b3fc21d237a0829cd967a9eaa4bf983ad29","8ad94763e212ce853b1e26c32aad946889d774133a354d3c108669100b08bb4d","9bdfd0634397eecd1b3066ed0f7ed1c72cf5b3ec482ca19f44913fb4fa2822c3","a5e5eceb45679a0e70fdb8af2194a7a336af345468fa47bac67ab6d5efc94525","ad206445ac17d4d24490a010dcf412b324ddd827d80b1c779ad38f06a75df2bc","b40cf4967e458cdf8033bed77daeb30186d12d6080d3a5854ac5499b32853f3d","b591629494dfdbaa7e88392c398735d3d67469801cbc90eeb82d1453e2a52c08","c905a8aa8ffdd836ab1cedfa73539875a28fbbe7891cc8bad585b5c9dd0fcd68","d21e8dfd40e74b31638985c4bf962db298973b46112e3d66599b0df8679c70b5","d2b6284957663be2e8d5cbce636f7dfba4995df6f7c2140fa5fc6f27e168e0a2"],"recordQualifiers":{},"scopeLabel":"OMIM:617049","sourceIds":["OMIM:617049"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0030360/OMIM:619484","label":"Cholestasis, progressive familial intrahepatic, 6","mondoId":"MONDO:0030360","onsetQualifier":null,"recordKeys":["003d720d7753cd9652cb80cc0cdbcddca2e645e559babeff642806679578567a","57e72fced7b0c5f9d8435b26b537219e31aa205b56c2d929b932514b2942f8fe","8fa05eb11538756761f6d390898a6c690b577dc573ce918c6f5ea3944f0fad1e","a5143d98abcc0f0c4b660c130ec97e7185a9eb8556dad0b75e730e9306d4f3cc","ab290439fb97ce0a9019d9741d10d462848d8ac0e5c0ce043717b99593a5f2d7","b81fcfbe8eeb39cc0f5f80537e4d093c0be99055636e35583a7ee9f4b0026c7e","d181f3aedfab35dde25ad04170be9ed7072b85dc5080050c5b1613df3c7e6743","dd58e2943b69b064bde0c28d794c22cfdc9443fb96762261819e6de874d90dd0","f197afbf95967f87603da2466352f208587a23f0b163d2f07bed92d0fc21797c","f469c472b427a6800836711a1dbdb02135564b4c5aa48ccaba7585db24596b81"],"recordQualifiers":{},"scopeLabel":"OMIM:619484","sourceIds":["OMIM:619484"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0030503/OMIM:619658","label":"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss","mondoId":"MONDO:0030503","onsetQualifier":null,"recordKeys":["160601ede8712cc1872c68c1bc0bbc4f90bde50ab529112e3435dbcc64be9120","24b133d9eb9a71b4ab4c8c81e6f09c12348b335575430a89a31ea90546ff2ee2","3784d5c5062d4b61476f561a301f0f6f689600369ed375df2f0c554530fb074c","3f5921cff2a7b19b22cf50fde1234b335dd83c0c2ab564af581fbb93412cad9b","6396ff66999c9e0a4e5aefa59fe099bae9e112c8b6cf03bf39309004b9b47534","67255b3d542d02b33ce64b28e637c8f89c6042c7f849c3d233c73d81dfc2a44e","768d9ae3d8e991cf192a06317448589e95812911f1441cefee60971291b2fca9","9190dff0a3d70fd85d4f5cc46f8bb56d1067536c84c5f1aa2b0fa6a9ba46f57f","d844c9ced91867167e3112750b9d0a514f92d4f1f298fca432188c559f037fb2","d8d4342e791e27e5da0dbc07bdeb2e85d960e33f77008f6d3dc4391058fd303a","def4fd7cb20777d5df3a36d4a4e0061918d6021a6395c04c6cc2638299361cf1","eba8579a1c6a7094e6b03f359fe543f9f4f50b584d7e86a418e11120829db7fe"],"recordQualifiers":{},"scopeLabel":"OMIM:619658","sourceIds":["OMIM:619658"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0030505/OMIM:619662","label":"Cholestasis, progressive familial intrahepatic, 8","mondoId":"MONDO:0030505","onsetQualifier":null,"recordKeys":["050a6fcb4f41a3691be0abd9ed5852a0c69fd91feafd6372527f8ba4343a3d4d","1f6ff53a04d1b2e4cb9088807ed92a18d29d2b45b7717641e39a53b592af727a","31165c8846a35495e0f6213f4f539e37143c80e1951de0528dca4dbd67115785","386b2a149a02196ba325d2f983dfc4de52b57efd428add682505f46b7ca05b89","5617960ae0c86656310d4c0f31166407612589bf542bf2db97c76fdc6512630c","76c9224d7f695b72cb99d82a377fee827c9bc9b81fc04dce1b778d691b1332f1","7c91afcfa95ae90dde6de5c03f13736b823cdc1c51b44b347903840370235c26","8a377f9f67b91988a0717a9bbe199a79f21271eb5f4884b044f8b65fe344f8ff","8fc3fddb7c67c4a988e6bd5071213da2c0125b5520ccf37f13e500a74a1a86d7","9bda86e35a69f61435199a59250827fca060a844d02ad342e0876a17942c9ed4","9cc2b46807e58e800230291ae2110fac3d7eb50170467133c5656144a6000c8c","a0412d59eabd42c94f7e9de22f5fa43666768904be8560f8cc3a9a77fdbad1d7","c3a907e6adb5283ee0629fb0af5badd12037590d07a58fbe436eac47d96e4650","cd6c52bb34ddd4d5bea6097223d174111731e94558604a60fef1aeb752d403a4","cfd4b61af374b0c0f3c2c81770382aad665bd2b7e96c5d85063e8ada0a570dc2","d0453cca5bcca1e795c0a61bb60b99aeebe8ef82935092ac133e7df0a29dea35","d43e11d5b375a1672641887d2a96e7c662e30ef19586e7ee8072c20417bec0e7","e1e0a722fd719de0c42b17c1ca12cc989a965b43c70067c0f09d0c81778fe5c7","e7117ff7696d3ac1bc102192f3ebb329c99098ff03fd29bdafd92e9b8ccf3246"],"recordQualifiers":{},"scopeLabel":"OMIM:619662","sourceIds":["OMIM:619662"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0030800/OMIM:619849","label":"Cholestasis, progressive familial intrahepatic, 9","mondoId":"MONDO:0030800","onsetQualifier":null,"recordKeys":["1f2f1f664cbd4497d33e5f0564ef30f1adbf1c8f36461578dc3c63f692323282","440e5e1f54c0ca20539226258fb031fb45efef89385f1a81feecf35f96fd377e","5518e5d651b7602b2517ebdfd0748dcc683217f353ba4bf8f9f26b4f808d0695","5a7901fcf7bba71d74b4c089cd6af5e4348569ef5e6c09f02cc2223d4e72d789","675bc7217ef9c0755fc043b0be7c82a0abe988acdba6f358958ee264672aac62","76db765a040b075ad67ea4ea21c55f9ba2442ae575d3c18c0a79dab23f8b0cd6","89e07d8607c252d5706de377e28cb4a603d83ae4b13eeb9e138399605184dd59","c709a2a8b1917a4e687602621b1a73d4d611119dfc052d40fb0c16fab3d47922","cb234b51635f3ef9c9fce693b51183a5f9e1fc2feb7d0b4c2c37ce0f3f1775f5","efd8b322bc442bf60783b19faeb2a662addcacaa3c3aef6eed39ac3d132b9577","fe54bbc862641c7b75ed2007cffa5ab62af38749454e251c0ab8466f4d73b56c"],"recordQualifiers":{},"scopeLabel":"OMIM:619849","sourceIds":["OMIM:619849"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0030810/OMIM:619868","label":"Cholestasis, progressive familial intrahepatic, 10","mondoId":"MONDO:0030810","onsetQualifier":null,"recordKeys":["0f53c7b85f10f6195feeba3c1302612185f0432a599357e109f81f06c58b9285","15ed144ad4f190614a0273fe5e87f3bbf8afde820909e6f5ef36b735931e76e2","28051443b40a1433ebbf4636af6d97c859bcd837a1cf79efc4c6a69e1d9f352c","3ab96e493d7485a9deddb29f6c1e1604164b01d4c839f501fbd00ada4007432a","3ccb0fbb4da12ee7944165f58340c2154411e3765fc096eefe4ce1b34ebb0cc3","4399507ba56dd5af455523e30358afebc10043fc38549d25a0df255d66ab436a","43e28d9e7e6303ba16bcb5ea04b6954d76e4833236755e7596f3d9c74ac941b7","44b7de0ca2b3fe76751b2c76fdb277511abbeb40777eac69c656089d9f1f0780","4c58ad30093772b1475fa7c55abcbbd8e95ffd9d870201dcd89857a289b75785","bb81b4bfdeadb5e44f72948548ffcf1f8edc77c8a620ecc3b4fe17c0fc0c5b5e","cb953201878269b9a37db7d9af6cc3051a8006500fd5b8ee575eaf08d363f85d","ceb74e60929c7da5fa34dd97aa3fa7b440f587e0c4ded806476d350f1e431359","cf36c5341502580aee0170362326ab7093ab9407f08caab3ec7d4cf4aabbdb24","f081a9e302a44100e878910d1bceb37fcbf5f1c19db0f1ed41c2ddb0784afe78","f4d605a25cf52771dcc7be878143946b76314a13f7e5ef3add6bec442c13984b","fc2af921c268246ac22d993c390a2f28ccb98cdd8c3545117c3860f276fe3da6"],"recordQualifiers":{},"scopeLabel":"OMIM:619868","sourceIds":["OMIM:619868"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0030815/OMIM:619874","label":"Cholestasis, progressive familial intrahepatic, 11","mondoId":"MONDO:0030815","onsetQualifier":null,"recordKeys":["1d946a5e2c89c47d1cca3ad3537a2b207347b70c9d64edc1d73d7cff43d6b7ab","48b623936cd6cd021b499712a1dc4cc8c1b210e171865994f71bb22095da0294","9e2844e80d7e2e36c34353798d68d3f73a0874e8027178f3cd596bfdc711c807","a398a1fbb32e0fa160c5f8a98f4cae5204df7c8a425b840159c24c1bcc76747a","a63d66f83d345fc9f6c615f06df9043df57fa0df052fb163b0937cf9a221c27d","f450eb8d02ad22a297f69ee3e38f0347914a9224fb81f9d74166e87dc7f9468f"],"recordQualifiers":{},"scopeLabel":"OMIM:619874","sourceIds":["OMIM:619874"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0031040/OMIM:620010","label":"Cholestasis, progressive familial intrahepatic, 12","mondoId":"MONDO:0031040","onsetQualifier":null,"recordKeys":["22c1c8f0107fe6a44e13e9e1894fdf85c8ac17a752dea22a545944fbbce59e88","413ae7e9d06bb9306f83ff2588c1d2ae24d913ce500fc2aa4027aa488f13e917","6b481b24ffacc7d0087061ad8db14d263f1a727c0511ca48c4d683d2227acca2","7927ad8a8c567b757dac8e4ccc8ba0951d76b8b8f28e248f2c0ba2d3311fde2c","83edba64aaf81e23af96c8a1b325f78d94bba47fd69ea932bc9237595db742e5","8a76645e86952067fb99c0753cef30d06525e01eef87138a5418c8554eb87356","8f5ebfed683391c49c80a850505d3390c5765cdcb35e70957b9110a32bbc65e1","92a41d56ac0fe7f24572f624addde711493a5f9bab657ede20bd26fc6bf87c71","98749acd4ea2f20b6bd39149d4ba2999ba81b823ae6d37297a6f07613fa37b09","a1db6274ed87e888d273b83563dff2333b2eefc2790de16f3678b1ab1965b9a0","a5f1b27892ea8d7d8ebf9ca54dd8170cd5d29ce1a5ec81bc91755ed0333d1a7a","ccf5bd07c8cf7f73fc6e1dda07dc09bdbbedf28e1710a202221f8af646fc611d","deda905475c5fbb4fbe34f5c7b0ca79b80da1c58fc2b6fa308dda49333e7c50c"],"recordQualifiers":{},"scopeLabel":"OMIM:620010","sourceIds":["OMIM:620010"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0975807/OMIM:620962","label":"Cholestasis, progressive familial intrahepatic, 13","mondoId":"MONDO:0975807","onsetQualifier":null,"recordKeys":["061ba9489866da79f7ea90e64a6942284d53772a9a9dc4e44f68cd4a0768ed00","0d5000549b34a8812989397a55aeeaab040a1f2f3ebeeec660208e12cc387e2d","0e67d2cd214b4da317b692581fd97491f54e0e992016158b25a1533ccbf3c3fb","0f6c2e2e57607c24609603b07ec7fe341235b40a77dc07b38b2ed8264433dd9a","108aa489cd3bb76c20e1572a0cd0b35d81702f0b14758126e775d45dd0ad62c9","180baf1b114947fc596a0273b3e96865109d5f797eba0e07ebbf2e052cdad7e4","1ac20ec8b3d41d5f61559cc830d138a1af569a7481bf9e9fb2af892173981d21","1df63d9522ac4a1a5a66a75cd5b587f353c619a04f5ad613ac4fa9cee0c052fd","21cd5d58e2222c87c5ad75ba9ac3a3d8e27cc108ae4f9794ba1ec6340b5f17a3","224b8cdbe989e21ac6db07741d44bbffa13cd7ec07e09d4a8eaf835450453f05","2804f8bd9a98ae09a4969f2f2adc580929e084fb66152819e19950c41749c2b5","2dcbffaa36a7ce937e259ed5d6d815ca967647704a5cdd7f88613d09b1861a48","3289c36902cf90b9e601c7198b9a1564cdd7523cc83aeebe2ad6753ee956cfe4","32a505d5804bb7ac574be22c5cea4a8c206aad8563184291324cab6e090efa70","3717c7d8f5c03754ee2b7dff708a2d9880702155927043ba96e9110ed7d242a4","3b84e7405f5d44ea8b30623fb33920bb3b3c5c2f76fb727eba5ba4d5a6e6531d","4a2379b7adc5cc17238a8d16a940c4cba8a6cec80f3d3e7d5540b4047e22e9bf","4b76f31288a799ea5ddfbf4691d1cb41862ceee0c17fbd52136bcbf205fee224","4d60c656da1535f4064de01c6b094c21983f10461ec33137b236f27fec229785","504301788c1f28adde048053dd72eb2d470418616db9b9bda68019ef94b9a24e","625c48bf243a90328617f879acfb7e73bc3b249b69020479cd77ea8a73e37a78","66896b35b453dfea31206feaf40e824406ba94481acc27adb84e80d18e0f4f8d","6ac08a4905ebea9fdb9a05e8b9aa2b1f81ce2c0ca426b16e770dab2ffd8b7b54","70bb4fc90c435dd7728e2b70ed1c184c92718684584b0d6d2b9759927fb4fa03","71560fd0d96ac846fbb07cd07b658591851a0cc7321e96f9d1f374aa9729f812","736f84d0d7c52d73c92c865b7449c2b96fe90214014aaec3486e78fdfd8d9717","74df3be33ea2feb9b31285e1166963c37d8f01f6bc7d969e8e4c989f75de8727","811ca284b8e3b97bd7968ca7953478ccaf3b308f3c47aa7f86c993ef47496b66","92629b958b3d13635a84eb7827b6c88d794afc935bc9add811b86dd3e06fe56b","998eb9c93bca1240596eb33f0c40d368d8700b9ca281ad85af179321e2218022","9e9560a1bdd24c123e972d6c6caa669e347ad164d5878a0eed2202117f9ca598","a50fd3eac1ab53f85eef221bdf5116abd9d4dd4a63ee9f88b6f311ce417ad206","a54655fb86acc1e9eb0a80f7b563aab585327d9bbef6dd6a341478fc60102185","a96cd57cadde602f652e7f8677da2d9dd4df4fb263a395bf0596fce4f53ac9c4","bbeba96718fc0f33ad36a5095075595cbdcaab93e99197847439deb5af050fd2","bf044c6ca2cd065637ab9576d324f2bcf2859205fbf49c285e2280ffa41397ae","c0297079a6e0831b853942de4126bd45a18b8e0fcbe478f0cbb649587d365196","c0f7381c827b4614cdf3a468741534bae2d59d403100b9fde85ca7bc38af576b","c1db3bad31bb29d6be3fe9c78ad6bbcf0995703d76229a06370d96f2d0d8cd18","c7af0e933f7dd53742f47d65d2efe4e824e7b49237a8a6cb66140a23f1af434d","cf5c1f3539503d7c10f9795ef01fe165b03e6b090f5ad03d0cadabc41986c328","d777ebba183724be4392b8b79c8a508432ae1bd7fcc43c0216c2109b4d09c864","e50d64c62238163e9e4ad32723628e243816171874e287ff6d8eb4358ab561b1","e7141736baceb9334c8c7855516f83fc35bbcaf53a14ff3339621860337d2e8e","f0d178f5f3b0fae7c4bb25109e36975783957c1fa26d1d8f1cd24714f3009590","f3147b487de80942d14932fe4288104472546a14fc0c62163cf25bb89f38e01f","f5f4b854fb7ac75984791475be0fb4fea4a68acace0ce918f1d8c5c5cda7bfce","ffc1c56e2bd10f65c541adddd0b5ecf45f7a49d7a48b0f93e5962306d56758d7"],"recordQualifiers":{},"scopeLabel":"OMIM:620962","sourceIds":["OMIM:620962"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0015762/ORPHA:172","label":"Progressive familial intrahepatic cholestasis","mondoId":"MONDO:0015762","onsetQualifier":null,"recordKeys":["0551dde5609389e43d2c9612d27345b4b6e49a9b5151e01bcd14891280b7f227","21d9974aff4fd61d878eb281fb8fdfc37aaa10950bd650312491c0f747a3e4e0","39d39fe96707e4b708ff3e71a16bca780c3dc5947ae48bcdbdadf9bfb05eed58","405adae42a8dfdcdae45f9939c69d0440134074e784adde56eb728c021aebd38","48440593d2987fac1f50046b7c526212d9ea3a22965d39d8f7f958018b2252b2","4a7a9d788456790d36d819dcfc925e724e46fd71a6278486121b7f86f6b2cda4","58655f8f419e37401c06f7f002c54d9668ac9dc9e1f71302715aaeacdf2df9f3","645285422b0cc2d8d812e490f051c1234596cd2a00f652695e6e392a1fd79378","80b5fe0310b8124915ea34bc41f4505e8c51db760be1664f03603eaabdf8738d","81ee2fb2150ce1987755948f7434be92b50e6c06b99257fb7937fde48a47a780","ca5944e9842ec640eb8e77af3ee3edd780958debf3c54f810473101d9ece93af","d208bc7429b20e9a102c222e95408fd663b29683165c90501aa71f53a2f98247","db437ee448c8faa78493fe6fd8f4bd6be4222059040fdf140005b0b472b93840","ff4481fa94b3244afebc5054643cb02ada1fb88c7dac3241f271b2573ed50a8f"],"recordQualifiers":{},"scopeLabel":"ORPHA:172","sourceIds":["ORPHA:172"],"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:0008892/OMIM:211600","MONDO:0011214/OMIM:602347","MONDO:0011497/OMIM:604901","MONDO:0014381/OMIM:615878"],"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":176,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":202,"sourceGroups":{"omim":7,"orphanet":14,"published":181}},"features":[{"hpoId":"HP:0033479","label":"Abnormal circulating bilirubin concentration","primary":false},{"hpoId":"HP:0001999","label":"Abnormal facial shape","primary":false},{"hpoId":"HP:0001928","label":"Abnormality of coagulation","primary":false},{"hpoId":"HP:0001872","label":"Abnormality of thrombocytes","primary":false},{"hpoId":"HP:0011985","label":"Acholic stools","primary":false},{"hpoId":"HP:0001903","label":"Anemia","primary":false},{"hpoId":"HP:0001541","label":"Ascites","primary":false},{"hpoId":"HP:0001408","label":"Bile duct proliferation","primary":false},{"hpoId":"HP:0002613","label":"Biliary cirrhosis","primary":false},{"hpoId":"HP:0011888","label":"Bleeding requiring red cell transfusion","primary":false},{"hpoId":"HP:0000978","label":"Bruising susceptibility","primary":false},{"hpoId":"HP:0030151","label":"Cholangitis","primary":false},{"hpoId":"HP:0001081","label":"Cholelithiasis","primary":false},{"hpoId":"HP:0001396","label":"Cholestasis","primary":false},{"hpoId":"HP:0002028","label":"Chronic diarrhea","primary":false},{"hpoId":"HP:0012622","label":"Chronic kidney disease","primary":false},{"hpoId":"HP:0001394","label":"Cirrhosis","primary":false},{"hpoId":"HP:0100543","label":"Cognitive impairment","primary":false},{"hpoId":"HP:0000776","label":"Congenital diaphragmatic hernia","primary":false},{"hpoId":"HP:0002908","label":"Conjugated hyperbilirubinemia","primary":false},{"hpoId":"HP:0034883","label":"Decreased portal vein velocity","primary":false},{"hpoId":"HP:0002750","label":"Delayed skeletal maturation","primary":false},{"hpoId":"HP:0002014","label":"Diarrhea","primary":false},{"hpoId":"HP:0031964","label":"Elevated circulating alanine aminotransferase concentration","primary":false},{"hpoId":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","primary":false},{"hpoId":"HP:0006254","label":"Elevated circulating alpha-fetoprotein concentration","primary":false},{"hpoId":"HP:0031956","label":"Elevated circulating aspartate aminotransferase concentration","primary":false},{"hpoId":"HP:0003259","label":"Elevated circulating creatinine concentration","primary":false},{"hpoId":"HP:0410053","label":"Elevated circulating gamma-aminobutyric acid concentration","primary":false},{"hpoId":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","primary":false},{"hpoId":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","primary":false},{"hpoId":"HP:0000421","label":"Epistaxis","primary":false},{"hpoId":"HP:0002040","label":"Esophageal varix","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0002630","label":"Fat malabsorption","primary":false},{"hpoId":"HP:0001945","label":"Fever","primary":false},{"hpoId":"HP:0034328","label":"Fibro-obliterative bile-duct lesion","primary":false},{"hpoId":"HP:0000097","label":"Focal segmental glomerulosclerosis","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0004737","label":"Global glomerulosclerosis","primary":false},{"hpoId":"HP:0100820","label":"Glomerulopathy","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0012852","label":"Hepatic bridging fibrosis","primary":false},{"hpoId":"HP:0001399","label":"Hepatic failure","primary":false},{"hpoId":"HP:0001395","label":"Hepatic fibrosis","primary":false},{"hpoId":"HP:0001397","label":"Hepatic steatosis","primary":false},{"hpoId":"HP:0001402","label":"Hepatocellular carcinoma","primary":false},{"hpoId":"HP:0002240","label":"Hepatomegaly","primary":false},{"hpoId":"HP:0001433","label":"Hepatosplenomegaly","primary":false},{"hpoId":"HP:0000126","label":"Hydronephrosis","primary":false},{"hpoId":"HP:0001987","label":"Hyperammonemia","primary":false},{"hpoId":"HP:0002904","label":"Hyperbilirubinemia","primary":false},{"hpoId":"HP:0003124","label":"Hypercholesterolemia","primary":false},{"hpoId":"HP:0004719","label":"Hyperechogenic kidneys","primary":false},{"hpoId":"HP:0000822","label":"Hypertension","primary":false},{"hpoId":"HP:0003073","label":"Hypoalbuminemia","primary":false},{"hpoId":"HP:0002901","label":"Hypocalcemia","primary":false},{"hpoId":"HP:0001943","label":"Hypoglycemia","primary":false},{"hpoId":"HP:0009025","label":"Increased connective tissue","primary":false},{"hpoId":"HP:0031141","label":"Increased hepatic echogenicity","primary":false},{"hpoId":"HP:0012202","label":"Increased serum bile acid concentration","primary":false},{"hpoId":"HP:0003573","label":"Increased total bilirubin","primary":false},{"hpoId":"HP:0001406","label":"Intrahepatic cholestasis","primary":false},{"hpoId":"HP:0006575","label":"Intrahepatic cholestasis with episodic jaundice","primary":false},{"hpoId":"HP:0000952","label":"Jaundice","primary":false},{"hpoId":"HP:0002024","label":"Malabsorption","primary":false},{"hpoId":"HP:0006563","label":"Malformation of the hepatic ductal plate","primary":false},{"hpoId":"HP:0001942","label":"Metabolic acidosis","primary":false},{"hpoId":"HP:0001413","label":"Micronodular cirrhosis","primary":false},{"hpoId":"HP:0002643","label":"Neonatal respiratory distress","primary":false},{"hpoId":"HP:0002664","label":"Neoplasm","primary":false},{"hpoId":"HP:0000112","label":"Nephropathy","primary":false},{"hpoId":"HP:0001790","label":"Nonimmune hydrops fetalis","primary":false},{"hpoId":"HP:0000938","label":"Osteopenia","primary":false},{"hpoId":"HP:0001876","label":"Pancytopenia","primary":false},{"hpoId":"HP:0001405","label":"Periportal fibrosis","primary":false},{"hpoId":"HP:0002202","label":"Pleural effusion","primary":false},{"hpoId":"HP:0006580","label":"Portal fibrosis","primary":false},{"hpoId":"HP:0001409","label":"Portal hypertension","primary":false},{"hpoId":"HP:0033196","label":"Portal inflammation","primary":false},{"hpoId":"HP:0030242","label":"Portal vein thrombosis","primary":false},{"hpoId":"HP:0006579","label":"Prolonged neonatal jaundice","primary":false},{"hpoId":"HP:0003645","label":"Prolonged partial thromboplastin time","primary":false},{"hpoId":"HP:0008151","label":"Prolonged prothrombin time","primary":false},{"hpoId":"HP:0005542","label":"Prolonged whole-blood clotting time","primary":false},{"hpoId":"HP:0000093","label":"Proteinuria","primary":false},{"hpoId":"HP:0000989","label":"Pruritus","primary":false},{"hpoId":"HP:0004349","label":"Reduced bone mineral density","primary":false},{"hpoId":"HP:0000083","label":"Renal insufficiency","primary":false},{"hpoId":"HP:0032948","label":"Renal interstitial fibrosis","primary":false},{"hpoId":"HP:0002098","label":"Respiratory distress","primary":false},{"hpoId":"HP:0002748","label":"Rickets","primary":false},{"hpoId":"HP:0030991","label":"Sclerosing cholangitis","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0001744","label":"Splenomegaly","primary":false},{"hpoId":"HP:0003774","label":"Stage 5 chronic kidney disease","primary":false},{"hpoId":"HP:0000122","label":"Unilateral renal agenesis","primary":false},{"hpoId":"HP:0030828","label":"Wheezing","primary":false}],"ledeHtml":"Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.","mondoId":"MONDO:0015762","records":[{"frequencyKind":"count","key":"003d720d7753cd9652cb80cc0cdbcddca2e645e559babeff642806679578567a","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619484","disease_name":"Cholestasis, progressive familial intrahepatic, 6","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002910","is_excluded":false,"label":"Elevated circulating hepatic transaminase concentration","onset_id":null,"reference":"PMID:31863603","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"01fa9c322f32e9ea9ec58fce7f271c886fcd6c0d3e37c4eb7945f2179a34a5b0","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"PCS","frequency_raw":"32/33","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"PMID:7912266","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"050a6fcb4f41a3691be0abd9ed5852a0c69fd91feafd6372527f8ba4343a3d4d","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0012852","is_excluded":false,"label":"Hepatic bridging fibrosis","onset_id":null,"reference":"PMID:30976738","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0551dde5609389e43d2c9612d27345b4b6e49a9b5151e01bcd14891280b7f227","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:172","disease_name":"Progressive familial intrahepatic cholestasis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"ORPHA:172","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"061ba9489866da79f7ea90e64a6942284d53772a9a9dc4e44f68cd4a0768ed00","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0001394","is_excluded":false,"label":"Cirrhosis","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0732ad4b413ea6b34416378b4a92fc1bb4c941117b6822017b5f035857e25cb1","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:602347","disease_name":"Cholestasis, progressive familial intrahepatic, 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002014","is_excluded":false,"label":"Diarrhea","onset_id":null,"reference":"PMID:9419367","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"08ababb4d799549a1804fcc03501d84d118fda8530a0be1dee54c5527fe3abc3","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002630","is_excluded":false,"label":"Fat malabsorption","onset_id":null,"reference":"OMIM:211600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0aa5b39bdc1bd2f416e60c7753e50c43c44d83a121b985aa30c6d50cc659397a","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:602347","disease_name":"Cholestasis, progressive familial intrahepatic, 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001406","is_excluded":false,"label":"Intrahepatic cholestasis","onset_id":null,"reference":"OMIM:602347","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0d5000549b34a8812989397a55aeeaab040a1f2f3ebeeec660208e12cc387e2d","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0e46dbbd8d777db391c61dba55ee0dd82e16e93ac3eb7e23ca6661ff60a3eca9","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:615878","disease_name":"Cholestasis, progressive familial intrahepatic 4","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001402","is_excluded":false,"label":"Hepatocellular carcinoma","onset_id":null,"reference":"PMID:25921221","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0e67d2cd214b4da317b692581fd97491f54e0e992016158b25a1533ccbf3c3fb","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0031956","is_excluded":false,"label":"Elevated circulating aspartate aminotransferase concentration","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0eca5c1534b9fa0fcea4a55be261e4333a20f562de057d057156969219597d11","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:617049","disease_name":"Cholestasis, progressive familial intrahepatic, 5","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0002202","is_excluded":false,"label":"Pleural effusion","onset_id":"HP:0003577","reference":"PMID:26888176","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0f53c7b85f10f6195feeba3c1302612185f0432a599357e109f81f06c58b9285","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"0/5","hpo_id":"HP:0030948","is_excluded":true,"label":"Elevated gamma-glutamyltransferase level","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0f6c2e2e57607c24609603b07ec7fe341235b40a77dc07b38b2ed8264433dd9a","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"3/5","hpo_id":"HP:0004719","is_excluded":false,"label":"Hyperechogenic kidneys","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"108aa489cd3bb76c20e1572a0cd0b35d81702f0b14758126e775d45dd0ad62c9","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003073","is_excluded":false,"label":"Hypoalbuminemia","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"15ed144ad4f190614a0273fe5e87f3bbf8afde820909e6f5ef36b735931e76e2","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0006580","is_excluded":false,"label":"Portal fibrosis","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"160601ede8712cc1872c68c1bc0bbc4f90bde50ab529112e3435dbcc64be9120","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619658","disease_name":"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss","evidence":"PCS","frequency_raw":"0/7","hpo_id":"HP:0410053","is_excluded":true,"label":"Elevated circulating gamma-aminobutyric acid concentration","onset_id":null,"reference":"PMID:33075013","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"180baf1b114947fc596a0273b3e96865109d5f797eba0e07ebbf2e052cdad7e4","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002098","is_excluded":false,"label":"Respiratory distress","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1ac20ec8b3d41d5f61559cc830d138a1af569a7481bf9e9fb2af892173981d21","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0009025","is_excluded":false,"label":"Increased connective tissue","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1c7b2cae703cbc4e173958a12b70465886770f8d2c502d2e9de0b326e027f3be","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:602347","disease_name":"Cholestasis, progressive familial intrahepatic, 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0006580","is_excluded":false,"label":"Portal fibrosis","onset_id":null,"reference":"PMID:9419367","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1d946a5e2c89c47d1cca3ad3537a2b207347b70c9d64edc1d73d7cff43d6b7ab","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619874","disease_name":"Cholestasis, progressive familial intrahepatic, 11","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0033479","is_excluded":true,"label":"Abnormal circulating bilirubin concentration","onset_id":null,"reference":"PMID:34585848","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1df63d9522ac4a1a5a66a75cd5b587f353c619a04f5ad613ac4fa9cee0c052fd","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1f2f1f664cbd4497d33e5f0564ef30f1adbf1c8f36461578dc3c63f692323282","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619849","disease_name":"Cholestasis, progressive familial intrahepatic, 9","evidence":"PCS","frequency_raw":"1/9","hpo_id":"HP:0001413","is_excluded":false,"label":"Micronodular cirrhosis","onset_id":null,"reference":"PMID:32737136","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1f6ff53a04d1b2e4cb9088807ed92a18d29d2b45b7717641e39a53b592af727a","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0006254","is_excluded":false,"label":"Elevated circulating alpha-fetoprotein concentration","onset_id":null,"reference":"PMID:30976738","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1fa268d81b05b97881ab025d10d30d1564094879837de13c27222a7e01c9cf9d","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:602347","disease_name":"Cholestasis, progressive familial intrahepatic, 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"PMID:9419367","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"21cd5d58e2222c87c5ad75ba9ac3a3d8e27cc108ae4f9794ba1ec6340b5f17a3","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0031964","is_excluded":false,"label":"Elevated circulating alanine aminotransferase concentration","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"21d9974aff4fd61d878eb281fb8fdfc37aaa10950bd650312491c0f747a3e4e0","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:172","disease_name":"Progressive familial intrahepatic cholestasis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"ORPHA:172","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"224b8cdbe989e21ac6db07741d44bbffa13cd7ec07e09d4a8eaf835450453f05","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0030151","is_excluded":false,"label":"Cholangitis","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"22c1c8f0107fe6a44e13e9e1894fdf85c8ac17a752dea22a545944fbbce59e88","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620010","disease_name":"Cholestasis, progressive familial intrahepatic, 12","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0031964","is_excluded":false,"label":"Elevated circulating alanine aminotransferase concentration","onset_id":null,"reference":"PMID:31479177","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"24b133d9eb9a71b4ab4c8c81e6f09c12348b335575430a89a31ea90546ff2ee2","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619658","disease_name":"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0031956","is_excluded":false,"label":"Elevated circulating aspartate aminotransferase concentration","onset_id":null,"reference":"PMID:30250217","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"271e9e26051cf34e2568ed69d71d9626701253579a83ea7bd5d1ed69f85e89cd","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"PCS","frequency_raw":"33/33","hpo_id":"HP:0002908","is_excluded":false,"label":"Conjugated hyperbilirubinemia","onset_id":null,"reference":"PMID:7912266","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"279675431683890446002a4f7364b4ef395ae8b11cbe6d12d88a8c82c3180a04","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:602347","disease_name":"Cholestasis, progressive familial intrahepatic, 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002024","is_excluded":false,"label":"Malabsorption","onset_id":null,"reference":"OMIM:602347","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2804f8bd9a98ae09a4969f2f2adc580929e084fb66152819e19950c41749c2b5","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003259","is_excluded":false,"label":"Elevated circulating creatinine concentration","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"28051443b40a1433ebbf4636af6d97c859bcd837a1cf79efc4c6a69e1d9f352c","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0003073","is_excluded":false,"label":"Hypoalbuminemia","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"28771b8ec5fbe80de6d30502f02354858d6d9814148acaa0987c426f0dddc905","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:604901","disease_name":"North american indian childhood cirrhosis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006579","is_excluded":false,"label":"Prolonged neonatal jaundice","onset_id":null,"reference":"PMID:12417987","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2dcbffaa36a7ce937e259ed5d6d815ca967647704a5cdd7f88613d09b1861a48","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002908","is_excluded":false,"label":"Conjugated hyperbilirubinemia","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"31165c8846a35495e0f6213f4f539e37143c80e1951de0528dca4dbd67115785","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"PMID:30976738","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"3215f3a24131cda0e29d471d64a410f8ab6c0d31b015a44cae897e5862337805","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:604901","disease_name":"North american indian childhood cirrhosis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002613","is_excluded":false,"label":"Biliary cirrhosis","onset_id":null,"reference":"PMID:12417987","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3289c36902cf90b9e601c7198b9a1564cdd7523cc83aeebe2ad6753ee956cfe4","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001408","is_excluded":false,"label":"Bile duct proliferation","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"32a505d5804bb7ac574be22c5cea4a8c206aad8563184291324cab6e090efa70","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001395","is_excluded":false,"label":"Hepatic fibrosis","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3717c7d8f5c03754ee2b7dff708a2d9880702155927043ba96e9110ed7d242a4","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0032948","is_excluded":false,"label":"Renal interstitial fibrosis","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3784d5c5062d4b61476f561a301f0f6f689600369ed375df2f0c554530fb074c","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619658","disease_name":"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss","evidence":"PCS","frequency_raw":"4/7","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"PMID:33075013","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"386b2a149a02196ba325d2f983dfc4de52b57efd428add682505f46b7ca05b89","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"4/6","hpo_id":"HP:0000989","is_excluded":false,"label":"Pruritus","onset_id":null,"reference":"PMID:34555379","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"39d39fe96707e4b708ff3e71a16bca780c3dc5947ae48bcdbdadf9bfb05eed58","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:172","disease_name":"Progressive familial intrahepatic cholestasis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:172","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3ab96e493d7485a9deddb29f6c1e1604164b01d4c839f501fbd00ada4007432a","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0011985","is_excluded":false,"label":"Acholic stools","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"3b56a78e19cdcadfbfd2038d84a041c871fc7509f931c8aea31cbdbbc246f11e","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"OMIM:211600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"3b84e7405f5d44ea8b30623fb33920bb3b3c5c2f76fb727eba5ba4d5a6e6531d","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"3/5","hpo_id":"HP:0000122","is_excluded":false,"label":"Unilateral renal agenesis","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3ccb0fbb4da12ee7944165f58340c2154411e3765fc096eefe4ce1b34ebb0cc3","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"4/5","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"3f5921cff2a7b19b22cf50fde1234b335dd83c0c2ab564af581fbb93412cad9b","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619658","disease_name":"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"PMID:33075013","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"405adae42a8dfdcdae45f9939c69d0440134074e784adde56eb728c021aebd38","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:172","disease_name":"Progressive familial intrahepatic cholestasis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:172","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"413ae7e9d06bb9306f83ff2588c1d2ae24d913ce500fc2aa4027aa488f13e917","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620010","disease_name":"Cholestasis, progressive familial intrahepatic, 12","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0031956","is_excluded":false,"label":"Elevated circulating aspartate aminotransferase concentration","onset_id":null,"reference":"PMID:31479177","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"415c39a490f35c23747cab2f9ea72f20d4ae5a58670226bb4c0258f845e84896","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006575","is_excluded":false,"label":"Intrahepatic cholestasis with episodic jaundice","onset_id":null,"reference":"OMIM:211600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"4399507ba56dd5af455523e30358afebc10043fc38549d25a0df255d66ab436a","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0012202","is_excluded":false,"label":"Increased serum bile acid concentration","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"43e28d9e7e6303ba16bcb5ea04b6954d76e4833236755e7596f3d9c74ac941b7","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"440e5e1f54c0ca20539226258fb031fb45efef89385f1a81feecf35f96fd377e","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:619849","disease_name":"Cholestasis, progressive familial intrahepatic, 9","evidence":"PCS","frequency_raw":"4/9","hpo_id":"HP:0001409","is_excluded":false,"label":"Portal hypertension","onset_id":null,"reference":"PMID:32737136","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"44b7de0ca2b3fe76751b2c76fdb277511abbeb40777eac69c656089d9f1f0780","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"48440593d2987fac1f50046b7c526212d9ea3a22965d39d8f7f958018b2252b2","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:172","disease_name":"Progressive familial intrahepatic cholestasis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001396","is_excluded":false,"label":"Cholestasis","onset_id":null,"reference":"ORPHA:172","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"48b623936cd6cd021b499712a1dc4cc8c1b210e171865994f71bb22095da0294","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:619874","disease_name":"Cholestasis, progressive familial intrahepatic, 11","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0000989","is_excluded":true,"label":"Pruritus","onset_id":null,"reference":"PMID:34585848","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4948e8896a86e326f211308204ef144bf4ed349a316fe20e1edbfdf9b1dba5ac","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"PCS","frequency_raw":"10/31","hpo_id":"HP:0001081","is_excluded":false,"label":"Cholelithiasis","onset_id":null,"reference":"PMID:7912266","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4a2379b7adc5cc17238a8d16a940c4cba8a6cec80f3d3e7d5540b4047e22e9bf","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"4a7a9d788456790d36d819dcfc925e724e46fd71a6278486121b7f86f6b2cda4","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:172","disease_name":"Progressive familial intrahepatic cholestasis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002024","is_excluded":false,"label":"Malabsorption","onset_id":null,"reference":"ORPHA:172","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4ad15d8b63961574d8cd99ff8db348b462ddcab18762d219049c18df80a13eb0","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:617049","disease_name":"Cholestasis, progressive familial intrahepatic, 5","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0008151","is_excluded":false,"label":"Prolonged prothrombin time","onset_id":null,"reference":"PMID:26888176","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4b76f31288a799ea5ddfbf4691d1cb41862ceee0c17fbd52136bcbf205fee224","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001942","is_excluded":false,"label":"Metabolic acidosis","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4c58ad30093772b1475fa7c55abcbbd8e95ffd9d870201dcd89857a289b75785","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"3/5","hpo_id":"HP:0000989","is_excluded":false,"label":"Pruritus","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4d60c656da1535f4064de01c6b094c21983f10461ec33137b236f27fec229785","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0001999","is_excluded":true,"label":"Abnormal facial shape","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"504301788c1f28adde048053dd72eb2d470418616db9b9bda68019ef94b9a24e","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0001396","is_excluded":false,"label":"Cholestasis","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5518e5d651b7602b2517ebdfd0748dcc683217f353ba4bf8f9f26b4f808d0695","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619849","disease_name":"Cholestasis, progressive familial intrahepatic, 9","evidence":"PCS","frequency_raw":"2/9","hpo_id":"HP:0002014","is_excluded":false,"label":"Diarrhea","onset_id":null,"reference":"PMID:32737136","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5617960ae0c86656310d4c0f31166407612589bf542bf2db97c76fdc6512630c","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0031956","is_excluded":false,"label":"Elevated circulating aspartate aminotransferase concentration","onset_id":null,"reference":"PMID:30976738","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5752975d8f362820891ea1cab0129f2863dcf912c4b5654047785c486cb6b0ad","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:617049","disease_name":"Cholestasis, progressive familial intrahepatic, 5","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"PMID:26888176","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"57e72fced7b0c5f9d8435b26b537219e31aa205b56c2d929b932514b2942f8fe","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619484","disease_name":"Cholestasis, progressive familial intrahepatic, 6","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002908","is_excluded":false,"label":"Conjugated hyperbilirubinemia","onset_id":null,"reference":"PMID:31863603","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"58655f8f419e37401c06f7f002c54d9668ac9dc9e1f71302715aaeacdf2df9f3","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:172","disease_name":"Progressive familial intrahepatic cholestasis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"ORPHA:172","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"5a7901fcf7bba71d74b4c089cd6af5e4348569ef5e6c09f02cc2223d4e72d789","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619849","disease_name":"Cholestasis, progressive familial intrahepatic, 9","evidence":"PCS","frequency_raw":"9/9","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"PMID:32737136","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5e2865ae64db73a87427c944504137982d583c23122b23b175c64d0a94989db1","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:602347","disease_name":"Cholestasis, progressive familial intrahepatic, 3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0012202","is_excluded":false,"label":"Increased serum bile acid concentration","onset_id":null,"reference":"PMID:9419367","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"60127331736050b86cefc3db32322f1037d74e37994211d7c8057e665908f97b","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002014","is_excluded":false,"label":"Diarrhea","onset_id":null,"reference":"OMIM:211600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"625c48bf243a90328617f879acfb7e73bc3b249b69020479cd77ea8a73e37a78","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001399","is_excluded":false,"label":"Hepatic failure","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6396ff66999c9e0a4e5aefa59fe099bae9e112c8b6cf03bf39309004b9b47534","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619658","disease_name":"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0002901","is_excluded":false,"label":"Hypocalcemia","onset_id":null,"reference":"PMID:30250217","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"645285422b0cc2d8d812e490f051c1234596cd2a00f652695e6e392a1fd79378","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:172","disease_name":"Progressive familial intrahepatic cholestasis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001928","is_excluded":false,"label":"Abnormality of coagulation","onset_id":null,"reference":"ORPHA:172","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"66896b35b453dfea31206feaf40e824406ba94481acc27adb84e80d18e0f4f8d","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002630","is_excluded":false,"label":"Fat malabsorption","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"67255b3d542d02b33ce64b28e637c8f89c6042c7f849c3d233c73d81dfc2a44e","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619658","disease_name":"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss","evidence":"PCS","frequency_raw":"7/7","hpo_id":"HP:0001396","is_excluded":false,"label":"Cholestasis","onset_id":null,"reference":"PMID:33075013","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"675bc7217ef9c0755fc043b0be7c82a0abe988acdba6f358958ee264672aac62","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619849","disease_name":"Cholestasis, progressive familial intrahepatic, 9","evidence":"PCS","frequency_raw":"7/9","hpo_id":"HP:0006563","is_excluded":false,"label":"Malformation of the hepatic ductal plate","onset_id":null,"reference":"PMID:32737136","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6998a5d5d05e1f75bf2e7ddbe8b39bd3d793288429cf01415bc84d87531adf79","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:617049","disease_name":"Cholestasis, progressive familial intrahepatic, 5","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0002908","is_excluded":false,"label":"Conjugated hyperbilirubinemia","onset_id":null,"reference":"PMID:26888176","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6ac08a4905ebea9fdb9a05e8b9aa2b1f81ce2c0ca426b16e770dab2ffd8b7b54","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000112","is_excluded":false,"label":"Nephropathy","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6b481b24ffacc7d0087061ad8db14d263f1a727c0511ca48c4d683d2227acca2","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620010","disease_name":"Cholestasis, progressive familial intrahepatic, 12","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"PMID:31479177","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6d676ce97eb9438067b334a6164f2baca42bce2b2f1b7ae4fc230aa012667c71","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"PCS","frequency_raw":"31/33","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"PMID:7912266","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"70bb4fc90c435dd7728e2b70ed1c184c92718684584b0d6d2b9759927fb4fa03","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0100820","is_excluded":false,"label":"Glomerulopathy","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"71560fd0d96ac846fbb07cd07b658591851a0cc7321e96f9d1f374aa9729f812","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0034883","is_excluded":false,"label":"Decreased portal vein velocity","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"71b7d06ec7c047bb6de425b63a5996cdb418cfdeb56a483ed3678a4251e52873","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:604901","disease_name":"North american indian childhood cirrhosis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001409","is_excluded":false,"label":"Portal hypertension","onset_id":null,"reference":"PMID:12417987","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"736f84d0d7c52d73c92c865b7449c2b96fe90214014aaec3486e78fdfd8d9717","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0012622","is_excluded":false,"label":"Chronic kidney disease","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"73a47b8e1deea6fdf2f8c2a1edb186cbb64089666a823b3419adc1fd572d3027","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"PCS","frequency_raw":"32/33","hpo_id":"HP:0000989","is_excluded":false,"label":"Pruritus","onset_id":null,"reference":"PMID:7912266","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"74df3be33ea2feb9b31285e1166963c37d8f01f6bc7d969e8e4c989f75de8727","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003774","is_excluded":false,"label":"Stage 5 chronic kidney disease","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"768d9ae3d8e991cf192a06317448589e95812911f1441cefee60971291b2fca9","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619658","disease_name":"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0003155","is_excluded":false,"label":"Elevated circulating alkaline phosphatase concentration","onset_id":null,"reference":"PMID:30250217","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"76c9224d7f695b72cb99d82a377fee827c9bc9b81fc04dce1b778d691b1332f1","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"7/7","hpo_id":"HP:0001396","is_excluded":false,"label":"Cholestasis","onset_id":null,"reference":"PMID:30976738;PMID:30250217","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"76db765a040b075ad67ea4ea21c55f9ba2442ae575d3c18c0a79dab23f8b0cd6","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619849","disease_name":"Cholestasis, progressive familial intrahepatic, 9","evidence":"PCS","frequency_raw":"2/9","hpo_id":"HP:0001406","is_excluded":false,"label":"Intrahepatic cholestasis","onset_id":null,"reference":"PMID:32737136","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"77a74f3cf0fff98212182091a71e2b3fc21d237a0829cd967a9eaa4bf983ad29","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:617049","disease_name":"Cholestasis, progressive familial intrahepatic, 5","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0001987","is_excluded":false,"label":"Hyperammonemia","onset_id":null,"reference":"PMID:26888176","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7927ad8a8c567b757dac8e4ccc8ba0951d76b8b8f28e248f2c0ba2d3311fde2c","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:620010","disease_name":"Cholestasis, progressive familial intrahepatic, 12","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0003645","is_excluded":false,"label":"Prolonged partial thromboplastin time","onset_id":null,"reference":"PMID:31479177","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7c91afcfa95ae90dde6de5c03f13736b823cdc1c51b44b347903840370235c26","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"13/13","hpo_id":"HP:0030948","is_excluded":false,"label":"Elevated gamma-glutamyltransferase level","onset_id":null,"reference":"PMID:30976738;PMID:34555379;PMID:30250217","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7e9a367dd103c9a2b11dfb68450c230bff36fbafae65f61d44f056fef65c7078","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:602347","disease_name":"Cholestasis, progressive familial intrahepatic, 3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001408","is_excluded":false,"label":"Bile duct proliferation","onset_id":null,"reference":"PMID:9419367","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"80b5fe0310b8124915ea34bc41f4505e8c51db760be1664f03603eaabdf8738d","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:172","disease_name":"Progressive familial intrahepatic cholestasis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002664","is_excluded":false,"label":"Neoplasm","onset_id":null,"reference":"ORPHA:172","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"811ca284b8e3b97bd7968ca7953478ccaf3b308f3c47aa7f86c993ef47496b66","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0030948","is_excluded":false,"label":"Elevated gamma-glutamyltransferase level","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"81ee2fb2150ce1987755948f7434be92b50e6c06b99257fb7937fde48a47a780","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:172","disease_name":"Progressive familial intrahepatic cholestasis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002750","is_excluded":false,"label":"Delayed skeletal maturation","onset_id":null,"reference":"ORPHA:172","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"836ad9a6004867a2897af6c5bee5f64c32b07f95cc8ce0f0e6f58a6dacce38a5","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:602347","disease_name":"Cholestasis, progressive familial intrahepatic, 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"PMID:9419367","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"83edba64aaf81e23af96c8a1b325f78d94bba47fd69ea932bc9237595db742e5","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:620010","disease_name":"Cholestasis, progressive familial intrahepatic, 12","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000989","is_excluded":false,"label":"Pruritus","onset_id":null,"reference":"PMID:31479177","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"877663bdeef03868c13cf7a57f1b39bc444815ce73e37b43f420464b28b87c02","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:615878","disease_name":"Cholestasis, progressive familial intrahepatic 4","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001394","is_excluded":false,"label":"Cirrhosis","onset_id":null,"reference":"PMID:25921221","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"89e07d8607c252d5706de377e28cb4a603d83ae4b13eeb9e138399605184dd59","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619849","disease_name":"Cholestasis, progressive familial intrahepatic, 9","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0034328","is_excluded":false,"label":"Fibro-obliterative bile-duct lesion","onset_id":null,"reference":"PMID:32737136","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8a377f9f67b91988a0717a9bbe199a79f21271eb5f4884b044f8b65fe344f8ff","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0002040","is_excluded":false,"label":"Esophageal varix","onset_id":null,"reference":"PMID:30250217","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8a76645e86952067fb99c0753cef30d06525e01eef87138a5418c8554eb87356","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620010","disease_name":"Cholestasis, progressive familial intrahepatic, 12","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0002908","is_excluded":false,"label":"Conjugated hyperbilirubinemia","onset_id":null,"reference":"PMID:31479177","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8aa39a44fc89cfb764f6d7cf672127b49e4f8894dda2c9ad2641dbf08e8fe1fe","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:602347","disease_name":"Cholestasis, progressive familial intrahepatic, 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000989","is_excluded":false,"label":"Pruritus","onset_id":null,"reference":"PMID:9419367","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8ad94763e212ce853b1e26c32aad946889d774133a354d3c108669100b08bb4d","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:617049","disease_name":"Cholestasis, progressive familial intrahepatic, 5","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0006254","is_excluded":false,"label":"Elevated circulating alpha-fetoprotein concentration","onset_id":null,"reference":"PMID:26888176","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8f5ebfed683391c49c80a850505d3390c5765cdcb35e70957b9110a32bbc65e1","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620010","disease_name":"Cholestasis, progressive familial intrahepatic, 12","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001396","is_excluded":false,"label":"Cholestasis","onset_id":null,"reference":"PMID:31479177","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8fa05eb11538756761f6d390898a6c690b577dc573ce918c6f5ea3944f0fad1e","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619484","disease_name":"Cholestasis, progressive familial intrahepatic, 6","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002028","is_excluded":false,"label":"Chronic diarrhea","onset_id":null,"reference":"PMID:31863603","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8fc3fddb7c67c4a988e6bd5071213da2c0125b5520ccf37f13e500a74a1a86d7","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0003124","is_excluded":false,"label":"Hypercholesterolemia","onset_id":null,"reference":"PMID:30976738","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8feba8c1e4ac9b0b4be82f8e1c8faa25751dba9fcad2395072dafec06ba30266","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:602347","disease_name":"Cholestasis, progressive familial intrahepatic, 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0030948","is_excluded":false,"label":"Elevated gamma-glutamyltransferase level","onset_id":null,"reference":"PMID:9419367","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9190dff0a3d70fd85d4f5cc46f8bb56d1067536c84c5f1aa2b0fa6a9ba46f57f","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619658","disease_name":"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0012852","is_excluded":false,"label":"Hepatic bridging fibrosis","onset_id":null,"reference":"PMID:33075013","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"92629b958b3d13635a84eb7827b6c88d794afc935bc9add811b86dd3e06fe56b","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0031141","is_excluded":false,"label":"Increased hepatic echogenicity","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"92a41d56ac0fe7f24572f624addde711493a5f9bab657ede20bd26fc6bf87c71","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620010","disease_name":"Cholestasis, progressive familial intrahepatic, 12","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000093","is_excluded":false,"label":"Proteinuria","onset_id":null,"reference":"PMID:31479177","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"93f235dccc120bd5525eeed774d380d7300a22438a142de71c9d3da3576580b2","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:602347","disease_name":"Cholestasis, progressive familial intrahepatic, 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"PMID:9419367","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"96435a03f063addfc463c2a69f5407bc167432c0187138873664267bd8292a14","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:615878","disease_name":"Cholestasis, progressive familial intrahepatic 4","evidence":"PCS","frequency_raw":"14/14","hpo_id":"HP:0001406","is_excluded":false,"label":"Intrahepatic cholestasis","onset_id":null,"reference":"PMID:25921221;PMID:24614073","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"98749acd4ea2f20b6bd39149d4ba2999ba81b823ae6d37297a6f07613fa37b09","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620010","disease_name":"Cholestasis, progressive familial intrahepatic, 12","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0002904","is_excluded":false,"label":"Hyperbilirubinemia","onset_id":null,"reference":"PMID:31479177","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"998eb9c93bca1240596eb33f0c40d368d8700b9ca281ad85af179321e2218022","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002643","is_excluded":false,"label":"Neonatal respiratory distress","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9bda86e35a69f61435199a59250827fca060a844d02ad342e0876a17942c9ed4","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"3/7","hpo_id":"HP:0001394","is_excluded":false,"label":"Cirrhosis","onset_id":null,"reference":"PMID:30976738;PMID:34555379","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9bdfd0634397eecd1b3066ed0f7ed1c72cf5b3ec482ca19f44913fb4fa2822c3","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:617049","disease_name":"Cholestasis, progressive familial intrahepatic, 5","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001541","is_excluded":false,"label":"Ascites","onset_id":"HP:0003577","reference":"PMID:26888176","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9cc2b46807e58e800230291ae2110fac3d7eb50170467133c5656144a6000c8c","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"PMID:30976738","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9d4e6eb49cd177bb1b83d73d1cee9671ae003006671d8d9d2dfc66d3e6239b25","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001394","is_excluded":false,"label":"Cirrhosis","onset_id":null,"reference":"OMIM:211600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"9e2844e80d7e2e36c34353798d68d3f73a0874e8027178f3cd596bfdc711c807","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619874","disease_name":"Cholestasis, progressive familial intrahepatic, 11","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0002240","is_excluded":true,"label":"Hepatomegaly","onset_id":null,"reference":"PMID:34585848","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9e9560a1bdd24c123e972d6c6caa669e347ad164d5878a0eed2202117f9ca598","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0012202","is_excluded":false,"label":"Increased serum bile acid concentration","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a0412d59eabd42c94f7e9de22f5fa43666768904be8560f8cc3a9a77fdbad1d7","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"4/5","hpo_id":"HP:0001395","is_excluded":false,"label":"Hepatic fibrosis","onset_id":null,"reference":"PMID:34555379","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a0bf66b949491203ee9f6e1afb95c087c6f4a1c25da3efc2ea713786834a7b4d","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"PMID:7912266","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a1db6274ed87e888d273b83563dff2333b2eefc2790de16f3678b1ab1965b9a0","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620010","disease_name":"Cholestasis, progressive familial intrahepatic, 12","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"PMID:31479177","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a398a1fbb32e0fa160c5f8a98f4cae5204df7c8a425b840159c24c1bcc76747a","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619874","disease_name":"Cholestasis, progressive familial intrahepatic, 11","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0031964","is_excluded":false,"label":"Elevated circulating alanine aminotransferase concentration","onset_id":null,"reference":"PMID:34585848","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a50fd3eac1ab53f85eef221bdf5116abd9d4dd4a63ee9f88b6f311ce417ad206","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a5143d98abcc0f0c4b660c130ec97e7185a9eb8556dad0b75e730e9306d4f3cc","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:619484","disease_name":"Cholestasis, progressive familial intrahepatic, 6","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0011888","is_excluded":false,"label":"Bleeding requiring red cell transfusion","onset_id":null,"reference":"PMID:31863603","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a54655fb86acc1e9eb0a80f7b563aab585327d9bbef6dd6a341478fc60102185","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0001541","is_excluded":false,"label":"Ascites","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a5e5eceb45679a0e70fdb8af2194a7a336af345468fa47bac67ab6d5efc94525","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:617049","disease_name":"Cholestasis, progressive familial intrahepatic, 5","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0001394","is_excluded":false,"label":"Cirrhosis","onset_id":null,"reference":"PMID:26888176","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a5f1b27892ea8d7d8ebf9ca54dd8170cd5d29ce1a5ec81bc91755ed0333d1a7a","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620010","disease_name":"Cholestasis, progressive familial intrahepatic, 12","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"PMID:31479177","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a63d66f83d345fc9f6c615f06df9043df57fa0df052fb163b0937cf9a221c27d","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619874","disease_name":"Cholestasis, progressive familial intrahepatic, 11","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0012202","is_excluded":false,"label":"Increased serum bile acid concentration","onset_id":null,"reference":"PMID:34585848","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a7bda22f172ac6918d3fcee4d6fad9608de39ad3108ebced2371bffa1243bc39","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"PCS","frequency_raw":"17/31","hpo_id":"HP:0000421","is_excluded":false,"label":"Epistaxis","onset_id":null,"reference":"PMID:7912266","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a96cd57cadde602f652e7f8677da2d9dd4df4fb263a395bf0596fce4f53ac9c4","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000083","is_excluded":false,"label":"Renal insufficiency","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ab290439fb97ce0a9019d9741d10d462848d8ac0e5c0ce043717b99593a5f2d7","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619484","disease_name":"Cholestasis, progressive familial intrahepatic, 6","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001405","is_excluded":false,"label":"Periportal fibrosis","onset_id":null,"reference":"PMID:31863603","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ad206445ac17d4d24490a010dcf412b324ddd827d80b1c779ad38f06a75df2bc","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:617049","disease_name":"Cholestasis, progressive familial intrahepatic, 5","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001790","is_excluded":false,"label":"Nonimmune hydrops fetalis","onset_id":"HP:0011461","reference":"PMID:26888176","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b40cf4967e458cdf8033bed77daeb30186d12d6080d3a5854ac5499b32853f3d","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:617049","disease_name":"Cholestasis, progressive familial intrahepatic, 5","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0001399","is_excluded":false,"label":"Hepatic failure","onset_id":null,"reference":"PMID:26888176","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b591629494dfdbaa7e88392c398735d3d67469801cbc90eeb82d1453e2a52c08","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:617049","disease_name":"Cholestasis, progressive familial intrahepatic, 5","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0001943","is_excluded":false,"label":"Hypoglycemia","onset_id":null,"reference":"PMID:26888176","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b81fcfbe8eeb39cc0f5f80537e4d093c0be99055636e35583a7ee9f4b0026c7e","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619484","disease_name":"Cholestasis, progressive familial intrahepatic, 6","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0030948","is_excluded":false,"label":"Elevated gamma-glutamyltransferase level","onset_id":null,"reference":"PMID:31863603","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ba1ab19aef6e7f1644892f35a03cd26717fe01afe81b4ba3c0b2f543bd3971f2","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:602347","disease_name":"Cholestasis, progressive familial intrahepatic, 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002910","is_excluded":false,"label":"Elevated circulating hepatic transaminase concentration","onset_id":null,"reference":"PMID:9419367","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"bb81b4bfdeadb5e44f72948548ffcf1f8edc77c8a620ecc3b4fe17c0fc0c5b5e","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0003124","is_excluded":false,"label":"Hypercholesterolemia","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"bbeba96718fc0f33ad36a5095075595cbdcaab93e99197847439deb5af050fd2","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001876","is_excluded":false,"label":"Pancytopenia","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"bf044c6ca2cd065637ab9576d324f2bcf2859205fbf49c285e2280ffa41397ae","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003155","is_excluded":false,"label":"Elevated circulating alkaline phosphatase concentration","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c0297079a6e0831b853942de4126bd45a18b8e0fcbe478f0cbb649587d365196","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000097","is_excluded":false,"label":"Focal segmental glomerulosclerosis","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c0f7381c827b4614cdf3a468741534bae2d59d403100b9fde85ca7bc38af576b","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000822","is_excluded":false,"label":"Hypertension","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c1db3bad31bb29d6be3fe9c78ad6bbcf0995703d76229a06370d96f2d0d8cd18","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001397","is_excluded":false,"label":"Hepatic steatosis","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c3a907e6adb5283ee0629fb0af5badd12037590d07a58fbe436eac47d96e4650","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0031964","is_excluded":false,"label":"Elevated circulating alanine aminotransferase concentration","onset_id":null,"reference":"PMID:30976738","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c709a2a8b1917a4e687602621b1a73d4d611119dfc052d40fb0c16fab3d47922","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619849","disease_name":"Cholestasis, progressive familial intrahepatic, 9","evidence":"PCS","frequency_raw":"7/9","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"PMID:32737136","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c7af0e933f7dd53742f47d65d2efe4e824e7b49237a8a6cb66140a23f1af434d","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004737","is_excluded":false,"label":"Global glomerulosclerosis","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c7ed6461f24b1c0f5e581b6b834372404ba3063cf567e4860b02fd65841245f3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"PCS","frequency_raw":"25/33","hpo_id":"HP:0002748","is_excluded":false,"label":"Rickets","onset_id":null,"reference":"PMID:7912266","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c905a8aa8ffdd836ab1cedfa73539875a28fbbe7891cc8bad585b5c9dd0fcd68","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:617049","disease_name":"Cholestasis, progressive familial intrahepatic, 5","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"PMID:26888176","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ca5944e9842ec640eb8e77af3ee3edd780958debf3c54f810473101d9ece93af","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:172","disease_name":"Progressive familial intrahepatic cholestasis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002901","is_excluded":false,"label":"Hypocalcemia","onset_id":null,"reference":"ORPHA:172","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"cb234b51635f3ef9c9fce693b51183a5f9e1fc2feb7d0b4c2c37ce0f3f1775f5","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:619849","disease_name":"Cholestasis, progressive familial intrahepatic, 9","evidence":"PCS","frequency_raw":"1/9","hpo_id":"HP:0000989","is_excluded":false,"label":"Pruritus","onset_id":null,"reference":"PMID:32737136","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"cb953201878269b9a37db7d9af6cc3051a8006500fd5b8ee575eaf08d363f85d","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0002908","is_excluded":false,"label":"Conjugated hyperbilirubinemia","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ccf5bd07c8cf7f73fc6e1dda07dc09bdbbedf28e1710a202221f8af646fc611d","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:620010","disease_name":"Cholestasis, progressive familial intrahepatic, 12","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"PMID:31479177","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"cd6c52bb34ddd4d5bea6097223d174111731e94558604a60fef1aeb752d403a4","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0012202","is_excluded":false,"label":"Increased serum bile acid concentration","onset_id":null,"reference":"PMID:30976738","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ceb74e60929c7da5fa34dd97aa3fa7b440f587e0c4ded806476d350f1e431359","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0031956","is_excluded":false,"label":"Elevated circulating aspartate aminotransferase concentration","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"cf36c5341502580aee0170362326ab7093ab9407f08caab3ec7d4cf4aabbdb24","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"4/5","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"cf5c1f3539503d7c10f9795ef01fe165b03e6b090f5ad03d0cadabc41986c328","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001903","is_excluded":false,"label":"Anemia","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"cfd4b61af374b0c0f3c2c81770382aad665bd2b7e96c5d85063e8ada0a570dc2","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0002908","is_excluded":false,"label":"Conjugated hyperbilirubinemia","onset_id":null,"reference":"PMID:30976738","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d0453cca5bcca1e795c0a61bb60b99aeebe8ef82935092ac133e7df0a29dea35","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001409","is_excluded":false,"label":"Portal hypertension","onset_id":null,"reference":"PMID:30250217","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d181f3aedfab35dde25ad04170be9ed7072b85dc5080050c5b1613df3c7e6743","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:619484","disease_name":"Cholestasis, progressive familial intrahepatic, 6","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"PMID:31863603","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d208bc7429b20e9a102c222e95408fd663b29683165c90501aa71f53a2f98247","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:172","disease_name":"Progressive familial intrahepatic cholestasis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100543","is_excluded":false,"label":"Cognitive impairment","onset_id":null,"reference":"ORPHA:172","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d21e8dfd40e74b31638985c4bf962db298973b46112e3d66599b0df8679c70b5","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:617049","disease_name":"Cholestasis, progressive familial intrahepatic, 5","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0031956","is_excluded":false,"label":"Elevated circulating aspartate aminotransferase concentration","onset_id":null,"reference":"PMID:26888176","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d2b6284957663be2e8d5cbce636f7dfba4995df6f7c2140fa5fc6f27e168e0a2","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:617049","disease_name":"Cholestasis, progressive familial intrahepatic, 5","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0031964","is_excluded":false,"label":"Elevated circulating alanine aminotransferase concentration","onset_id":null,"reference":"PMID:26888176","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d43e11d5b375a1672641887d2a96e7c662e30ef19586e7ee8072c20417bec0e7","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0030991","is_excluded":false,"label":"Sclerosing cholangitis","onset_id":null,"reference":"PMID:30250217","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d493eae6532a955b970569f90adc4b65758075098888fa1532b75afb2a3a4637","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"PCS","frequency_raw":"33/33","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"PMID:7912266","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d777ebba183724be4392b8b79c8a508432ae1bd7fcc43c0216c2109b4d09c864","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001433","is_excluded":false,"label":"Hepatosplenomegaly","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d844c9ced91867167e3112750b9d0a514f92d4f1f298fca432188c559f037fb2","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619658","disease_name":"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0001395","is_excluded":false,"label":"Hepatic fibrosis","onset_id":null,"reference":"PMID:33075013","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d8d4342e791e27e5da0dbc07bdeb2e85d960e33f77008f6d3dc4391058fd303a","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:619658","disease_name":"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000989","is_excluded":false,"label":"Pruritus","onset_id":null,"reference":"PMID:30250217","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"db437ee448c8faa78493fe6fd8f4bd6be4222059040fdf140005b0b472b93840","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:172","disease_name":"Progressive familial intrahepatic cholestasis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004349","is_excluded":false,"label":"Reduced bone mineral density","onset_id":null,"reference":"ORPHA:172","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"dd58e2943b69b064bde0c28d794c22cfdc9443fb96762261819e6de874d90dd0","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619484","disease_name":"Cholestasis, progressive familial intrahepatic, 6","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003155","is_excluded":false,"label":"Elevated circulating alkaline phosphatase concentration","onset_id":null,"reference":"PMID:31863603","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"dea1505e38c14fbc1edc7788747482321a4ddf1d3a496901d419f276e58733d7","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:602347","disease_name":"Cholestasis, progressive familial intrahepatic, 3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0033196","is_excluded":false,"label":"Portal inflammation","onset_id":null,"reference":"PMID:9419367","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"deda905475c5fbb4fbe34f5c7b0ca79b80da1c58fc2b6fa308dda49333e7c50c","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620010","disease_name":"Cholestasis, progressive familial intrahepatic, 12","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0012202","is_excluded":false,"label":"Increased serum bile acid concentration","onset_id":null,"reference":"PMID:31479177","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"def4fd7cb20777d5df3a36d4a4e0061918d6021a6395c04c6cc2638299361cf1","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619658","disease_name":"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0031964","is_excluded":false,"label":"Elevated circulating alanine aminotransferase concentration","onset_id":null,"reference":"PMID:30250217","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e1e0a722fd719de0c42b17c1ca12cc989a965b43c70067c0f09d0c81778fe5c7","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"4/5","hpo_id":"HP:0001408","is_excluded":false,"label":"Bile duct proliferation","onset_id":null,"reference":"PMID:34555379","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e33cfcd76fba3a4e138937958c427b3cd3c41ac2b038ba15cfe4ac57e9337b36","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"PCS","frequency_raw":"10/31","hpo_id":"HP:0030828","is_excluded":false,"label":"Wheezing","onset_id":null,"reference":"PMID:7912266","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e50d64c62238163e9e4ad32723628e243816171874e287ff6d8eb4358ab561b1","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"2/5","hpo_id":"HP:0000126","is_excluded":false,"label":"Hydronephrosis","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e53c32a76f8c825e62e3f3471ef165379ae0afd93e832aa92357af9ef671e35f","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:615878","disease_name":"Cholestasis, progressive familial intrahepatic 4","evidence":"TAS","frequency_raw":"2/12","hpo_id":"HP:0001409","is_excluded":false,"label":"Portal hypertension","onset_id":null,"reference":"PMID:24614073","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e7117ff7696d3ac1bc102192f3ebb329c99098ff03fd29bdafd92e9b8ccf3246","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619662","disease_name":"Cholestasis, progressive familial intrahepatic, 8","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0003155","is_excluded":false,"label":"Elevated circulating alkaline phosphatase concentration","onset_id":null,"reference":"PMID:30976738","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e7141736baceb9334c8c7855516f83fc35bbcaf53a14ff3339621860337d2e8e","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"eba8579a1c6a7094e6b03f359fe543f9f4f50b584d7e86a418e11120829db7fe","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:619658","disease_name":"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"PMID:30250217","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ee7b331707a174bd2deae1fd8a20a3b0695ec72e2b3b37622c391b9d6f6043b5","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:602347","disease_name":"Cholestasis, progressive familial intrahepatic, 3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001541","is_excluded":false,"label":"Ascites","onset_id":null,"reference":"PMID:9419367","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"efd8b322bc442bf60783b19faeb2a662addcacaa3c3aef6eed39ac3d132b9577","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619849","disease_name":"Cholestasis, progressive familial intrahepatic, 9","evidence":"PCS","frequency_raw":"3/9","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"PMID:32737136","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f081a9e302a44100e878910d1bceb37fcbf5f1c19db0f1ed41c2ddb0784afe78","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"4/5","hpo_id":"HP:0031964","is_excluded":false,"label":"Elevated circulating alanine aminotransferase concentration","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f0d178f5f3b0fae7c4bb25109e36975783957c1fa26d1d8f1cd24714f3009590","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0030242","is_excluded":false,"label":"Portal vein thrombosis","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f197afbf95967f87603da2466352f208587a23f0b163d2f07bed92d0fc21797c","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619484","disease_name":"Cholestasis, progressive familial intrahepatic, 6","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001406","is_excluded":false,"label":"Intrahepatic cholestasis","onset_id":null,"reference":"PMID:31863603","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f3147b487de80942d14932fe4288104472546a14fc0c62163cf25bb89f38e01f","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0002613","is_excluded":false,"label":"Biliary cirrhosis","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f31e817357063f471a87e3492496db68e9a9851ae50b4a1efa22559229aaf7f7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:211600","disease_name":"Cholestasis, progressive familial intrahepatic 1","evidence":"PCS","frequency_raw":"2/33","hpo_id":"HP:0000938","is_excluded":false,"label":"Osteopenia","onset_id":null,"reference":"PMID:7912266","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f450eb8d02ad22a297f69ee3e38f0347914a9224fb81f9d74166e87dc7f9468f","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619874","disease_name":"Cholestasis, progressive familial intrahepatic, 11","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0031956","is_excluded":false,"label":"Elevated circulating aspartate aminotransferase concentration","onset_id":null,"reference":"PMID:34585848","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f469c472b427a6800836711a1dbdb02135564b4c5aa48ccaba7585db24596b81","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:619484","disease_name":"Cholestasis, progressive familial intrahepatic, 6","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000978","is_excluded":false,"label":"Bruising susceptibility","onset_id":null,"reference":"PMID:31863603","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f4d605a25cf52771dcc7be878143946b76314a13f7e5ef3add6bec442c13984b","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f4d8de72eb79a36dd3f1e7578f9a00574f8b101200fca9e3ae60e3e96b346a9d","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:615878","disease_name":"Cholestasis, progressive familial intrahepatic 4","evidence":"PCS","frequency_raw":"11/14","hpo_id":"HP:0001399","is_excluded":false,"label":"Hepatic failure","onset_id":null,"reference":"PMID:25921221;PMID:24614073","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f5f4b854fb7ac75984791475be0fb4fea4a68acace0ce918f1d8c5c5cda7bfce","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000776","is_excluded":false,"label":"Congenital diaphragmatic hernia","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f6503a39e998de7afe592efb5d7444c0b8f794a8b996a419b236c3582994a570","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:602347","disease_name":"Cholestasis, progressive familial intrahepatic, 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001394","is_excluded":false,"label":"Cirrhosis","onset_id":null,"reference":"PMID:9419367","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fc2af921c268246ac22d993c390a2f28ccb98cdd8c3545117c3860f276fe3da6","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619868","disease_name":"Cholestasis, progressive familial intrahepatic, 10","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0003573","is_excluded":false,"label":"Increased total bilirubin","onset_id":null,"reference":"PMID:27532546","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fe54bbc862641c7b75ed2007cffa5ab62af38749454e251c0ab8466f4d73b56c","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:619849","disease_name":"Cholestasis, progressive familial intrahepatic, 9","evidence":"PCS","frequency_raw":"2/9","hpo_id":"HP:0001945","is_excluded":false,"label":"Fever","onset_id":null,"reference":"PMID:32737136","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ff4481fa94b3244afebc5054643cb02ada1fb88c7dac3241f271b2573ed50a8f","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:172","disease_name":"Progressive familial intrahepatic cholestasis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001872","is_excluded":false,"label":"Abnormality of thrombocytes","onset_id":null,"reference":"ORPHA:172","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ffc1c56e2bd10f65c541adddd0b5ecf45f7a49d7a48b0f93e5962306d56758d7","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:620962","disease_name":"Cholestasis, progressive familial intrahepatic, 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005542","is_excluded":false,"label":"Prolonged whole-blood clotting time","onset_id":null,"reference":"PMID:39132680","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/progressive-familial-intrahepatic-cholestasis\">Progressive familial intrahepatic cholestasis</a></li><li><a href=\"https://medlineplus.gov/genetics/condition/north-american-indian-childhood-cirrhosis\">North American Indian childhood cirrhosis</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in more than 10 different genes can cause PFIC. Pathogenic variants in the ATP8B1, ABCB11, and ABCB4 genes cause the three most common forms of PFIC.</p><p>Many of the genes that are associated with PFIC provide instructions for producing proteins that help move a particular component of bile, called bile acids, in and out of the liver. Bile acids help break down fats from food so that they can be absorbed by the intestines.</p><p>Pathogenic variants in the ATP8B1 gene cause FIC1 deficiency. The ATP8B1 gene provides instructions for making a protein that helps protect liver cells from the damaging effects of bile acids as they are moved out of the liver. The pathogenic variants in the ATP8B1 gene that cause FIC1 deficiency likely alter the makeup of the liver cell membrane, impairing the membrane&#x27;s ability to transport bile acids. However, it is not clear exactly how these variants cause the cholestasis and liver damage seen in people with FIC1 deficiency.</p><p>Pathogenic variants in the ABCB11 gene cause BSEP deficiency. The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). This protein is found in the liver, and its main role is to move bile acids out of liver cells. Pathogenic variants in the ABCB11 gene can result in a buildup of bile acids, which damages liver cells and causes liver disease.</p><p>Pathogenic variants in the ABCB4 gene cause MDR3 deficiency. These variants reduce the number of molecules called phospholipids that are available to bind to bile acids. These phospholipids act as a buffer. Large amounts of free (unbuffered) bile acids are potentially harmful to cells. However, when bile acids are bound to phospholipids, they are less toxic. When fewer phospholipids are available to bind to bile acids, bile acids can build up and cause liver damage.</p><p>Some people with PFIC do not have an identified pathogenic variant in the genes that are currently associated with PFIC. In these cases, the cause of the condition is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/progressive-familial-intrahepatic-cholestasis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Progressive familial intrahepatic cholestasis?"},{"bodyHtml":"<p>Signs and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly).</p><p>There are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are also sometimes described as shortages of particular proteins needed for normal liver function. Each type has a different genetic cause.</p><p>In addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood.</p><p>The signs and symptoms of PFIC2 are typically related to liver disease only; however, these signs and symptoms tend to be more severe than those experienced by people with PFIC1. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma.</p><p>Most people with PFIC3 have signs and symptoms related to liver disease only. Signs and symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood. Liver failure can occur in childhood or adulthood in people with PFIC3.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/progressive-familial-intrahepatic-cholestasis\">MedlinePlus Genetics</a></p><details class=\"deep-dive\"><summary>North American Indian childhood cirrhosis</summary><p>North American Indian childhood cirrhosis is a rare liver disorder that occurs in children. The liver malfunction causes yellowing of the skin and whites of the eyes (jaundice) in affected infants. The disorder worsens with age, progressively damaging the liver and leading to chronic, irreversible liver disease (cirrhosis) in childhood or adolescence. Unless it is treated with liver transplantation, North American Indian childhood cirrhosis typically causes life-threatening complications including liver failure.</p><h3>Causes</h3><p>North American Indian childhood cirrhosis results from at least one known mutation in the UTP4 gene. This gene provides instructions for making a protein called cirhin, whose precise function is unknown. Within cells, cirhin is located in a structure called the nucleolus, which is a small region inside the nucleus where ribosomal RNA (rRNA) is produced. A chemical cousin of DNA, rRNA is a molecule that helps assemble protein building blocks (amino acids) into functioning proteins. Researchers believe that cirhin may play a role in processing rRNA. Studies also suggest that cirhin may function by interacting with other proteins.</p><p>Cirhin is found in many different types of cells, so it is unclear why the effects of North American Indian childhood cirrhosis appear to be limited to the liver. Researchers are working to determine how a UTP4 gene mutation causes the progressive liver damage characteristic of this disorder.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/north-american-indian-childhood-cirrhosis/#causes\">MedlinePlus Genetics: Causes</a></p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/north-american-indian-childhood-cirrhosis\">MedlinePlus: North American Indian childhood cirrhosis</a></p></details>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"progressive-familial-intrahepatic-cholestasis","sourceDocuments":[{"name":"Progressive familial intrahepatic cholestasis","reviewed":"2009-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:27.061468+00:00","label":"Causes","pageSha256":"8d60d551433f74d55513bbc36f6fc1e8645499f371f6e8912a8b95c4cb0e152e","sourceUrl":"https://medlineplus.gov/genetics/condition/progressive-familial-intrahepatic-cholestasis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/progressive-familial-intrahepatic-cholestasis"},{"name":"North American Indian childhood cirrhosis","reviewed":"2011-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:51.570518+00:00","label":"Causes","pageSha256":"fea17ba4dc4cd91116cb9534a3abef62bd1d0aa34955dee98ef67b5fc61291d7","sourceUrl":"https://medlineplus.gov/genetics/condition/north-american-indian-childhood-cirrhosis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/north-american-indian-childhood-cirrhosis"}],"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":"Progressive familial intrahepatic cholestasis"},"schemaVersion":1}