{"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:0024533/OMIM:178600","label":"Pulmonary hypertension, primary, 1","mondoId":"MONDO:0024533","onsetQualifier":null,"recordKeys":["06f25a29e34fb25cc2f1503d7b60a8d1e376f4fa3e48371c41e6301184ecbd43","071d70932892d097eda6eb09f8ad068a0e6a7451d30205681455a8e393819cdb","0cf4ce04fbf16bc2329bfc0659ec5b49c57fb42f160b3ce9e5a4a2a3ae9ec651","107fa062e52ec7d29a079c41522ff4bc30c74d9ee338c6db6a63b2baaca178fe","392ceaab3c404f47819a810d040b2d066d7f9152401d774ab35006e6ae4bee49","6a0a0928c71e67f3545c703b11b82a6d6261243648d76a866d2fa362470d6847","6b62821985dbad8fbda08eda0a27b76ecfcd224803f81145c14f7f9857cacd37","85e289e8d8306f4b517a6cc8a0aa4b54c2d134763889b35e0ec5bc73f2f683b9","9828209b038961af45c2b1a5b490d0273c80cabee002a8a74fad34e814296477","9b7bb71b0bd1bf9e2d3ea1ebc3a72e09f24961f97ac503db9b5f6d3527037f42","b0b194815edf999aefe0e1c4e39a724e10d357cabb10f034e568f11f1a8a4570","df1571041f5959ecb623264fb3e76649d9b759596508532653073932f950c56f","ec5bdbe80f0b0b084628d45e44b52fbb733bdbc02cc82933d0b7a4bad617687c","ec71f6d3cafdc2c7e85cc3fb8bc9a1c48985c29627690e3a5dfd12e2e4420584"],"recordQualifiers":{},"scopeLabel":"OMIM:178600","sourceIds":["OMIM:178600"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0009935/OMIM:265400","label":"Pulmonary hypertension, primary, autosomal recessive","mondoId":"MONDO:0009935","onsetQualifier":null,"recordKeys":["03d9b13fd3706f364849197740abb2a48e568d85d035bea78dc4b7b4b5518be1","03f44b67150e6b502171219522b1ad2e62a6dca75939a6c1dcc4a5ea595f8f9a","29d4c4a18cb97f05e91da61c5aa9f647f730748fa97239371c2c9bf0595c97e5","39a3b98d236d9b321e55495abdf8b1b6400031e92065bd09cf03fd3b4a195fb0","4d25a9e3ec4e18469728fc40d3d211a5dd4bc214164b6c9e877d1c2a4d6a2506","54f23cea0c9875f9e485fe3c3972c09ad8acc3fcf206c7cfa8861c5b38d76b58","6139a0b89161abbf1876953b6cdd4d9eb601a95901fdca9fc4609bab1b8fb9f0","6142b45d6db15aedfb0fc3472f1dea6061280a687607ede527cb3430cc6d8c75","63cbb4ad60419648112be9cc4b5bf66ca6d0969f6c8720b0d56f246e617583cb"],"recordQualifiers":{},"scopeLabel":"OMIM:265400","sourceIds":["OMIM:265400"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0014134/OMIM:615342","label":"Pulmonary hypertension, primary, 2","mondoId":"MONDO:0014134","onsetQualifier":null,"recordKeys":["a8c42c298008b081661d09baa1ab8339fdcc9724df8092c3941f0a167e377122","c5d1033d2516c80545e064ee35c505fe997a5168552a733dbad6e09aa72e1d2c","c8a5cd7f6dea10e7bcc6a4b837d48136b1ebae9ea6bc696a726e578e189b30f6"],"recordQualifiers":{},"scopeLabel":"OMIM:615342","sourceIds":["OMIM:615342"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0014135/OMIM:615343","label":"Pulmonary hypertension, primary, 3","mondoId":"MONDO:0014135","onsetQualifier":null,"recordKeys":["4e6de92ce70322572678adeb349fa4f45dc48ebd4ad915a376d7aba5980b9636","60113af9b68516efa4e0ac89cbc94a84770413648698de8488cfe5478dd85797","ef6abc7b03cb533a496c1866803de7c9fe56736b84c8d8972ff25f639c086033","fe640f48c7554377e16748f478c9efed4af321424cf53a83dd66c56fef65f688"],"recordQualifiers":{},"scopeLabel":"OMIM:615343","sourceIds":["OMIM:615343"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0014136/OMIM:615344","label":"Pulmonary hypertension, primary, 4","mondoId":"MONDO:0014136","onsetQualifier":null,"recordKeys":["24a1c4cb6fab85b06222ed9356569a2de511e5c942b162bb89ab6d27c4e683f5","55470c03fe529a36494b33379705d8994f8a22e7a17f49beae6207acbc929950","646319930c610e413d1a29b347fd4210d6ddd9daaec7edbceeb97e8eb4677470","8bcbc0333ef068f379966036979e774c898da7cece2322cd875d599e9478951a","c8e7e6d5441d75dc7a6038be9a9caa7bad54901b50b8d055ad774da0a6a46f42","d6b55aeb0360f894fb3cfe18249675eece48bcb00d33e25fde13ab5b286d1741","f04705946ba6b7c05410a94fb3f3398be1b47a37e86450cfbe2fcbaf6436bb6c","fbbae77e1e0b6792369e416454b341cc931bfd44e550e3dcae198963a48af8ef"],"recordQualifiers":{},"scopeLabel":"OMIM:615344","sourceIds":["OMIM:615344"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0958334/OMIM:620777","label":"Pulmonary hypertension, primary, 6","mondoId":"MONDO:0958334","onsetQualifier":null,"recordKeys":["0a856e22cc22f886298b370eb8a25ee49e2d8bfbc23929c8775b7c05b57d1465","0c5369a52aa9f29c0e3a8e296d6b9c67d570fc89589c3c7f52aa8cde2c038f0f","1497651eac2f22d529b82d129f2e98333003de4d8673a35d77b44e557416079a","18beda0d5dac4e025c65a762ed74a9d3df7e1bd5e425746e0e5c26619e0e3ed4","1c05674e58fa0ff039ee0f9ab4460b9098dbdcd7d20620861799391371913a2a","25ce782c1a4484af0545c72a5e7f914c0c95516dc65dc8fdab3e9fcd579e83b0","4b8172d3b8c86af8a0956a7ef3ed92fd640b9aa822b7d058ad0b8208eb7f51a9","4c6cb515da48a03dd7d76cbb8d1640ed688740109eeaabc5f717c7dcb8d8c65a","848b85ac59fd3b8a6330a4f05292f86cb4342d4e28a58fdbb041c25a90c9b728","8a6465c0fb4266d7087306a66a3352939bf547fb95bdf008ff10c7f87b15d773","c742059c0f1bc041ffb7af7c762707cc6a7f7c350911a1920c8bb45e6ca88ec4","ca32b405633084cca64221ec05d3223a655e12af3431aada929d93e402c66aec","d1815e54ae7f9bbaaa3845a108ac9dc4dfaae3aab4660bf603d39a2cb4b3252c","d1fc8d51740c9731755048822ec85e4f7ac6d66c5503913551a1de567cb916d4","e63114caf9f8594b58ccfe536ae92b9f3e9ee9bf8e456df414aa3ec1f512b4a9","e63c935a9a9560b27af49fc89b28c93b657b1bb683545ea86783f273d9fb20a6","e655174fc056aedd7a9d9d8eee66454028a43bb63e9fbeb29436ac800db15c37"],"recordQualifiers":{},"scopeLabel":"OMIM:620777","sourceIds":["OMIM:620777"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0979237/OMIM:621248","label":"Pulmonary hypertension, primary, 7","mondoId":"MONDO:0979237","onsetQualifier":null,"recordKeys":["026dc31ea14ff92b2fd69696d7ceff80e3bf35d013717e8067c9964e97a98823","07014b997bbe71171659003159d45214ceacdb721e342a836a4ca733c14569a9","14413f1142920c17f33231654513767dee8e0845cd8eb3aac3519dc0ecf944f0","17ad229528d36c1a9c2e3dcc7bd5891536613da4368e4529ea263e85f3e692e0","1d829b2db414b6a94dbf70635da2f96a74bfc738072645dce8076c4a7a1cd248","1de431e75e1aaf6c86c579bc01206959553c852390d8f67c3c653c96cb440912","221ebdc1c6d371ed55f14b011e668836b16b2f53656322ef4f216704a95a3bf5","2428365cd0900097718beb06b0c02e3f1dc7e3cfa716c26939c39aa73aa11253","25a9f9ef3af58d4fd7a5b711d103119731bab1309216e65ee4017cb04994a130","2a79bf9c6e6bbee551edd8fc8e427a80280995ad253780134317d97cc57f6501","2e2ae7fe310bbe3c2295aa2a2c7086b723e6f363fb1f88416c3820e3a7515a40","30d74f164a4dae85908ee32c4a46abda9ef49d341e253e147e661cf276c0ffc0","32522f07bdb286c3adfc22e1b8475a2afc2c557b83f3adfd9a1b9486d96a6b9b","36d7b932ee44fba0ca95243c6885c42c165747e6345043304a3a841f984decb7","37477e56136150ee8dbdff5cb1bf684f7f4c4e35adb829272ba6d6783890e03f","385be525e360f90ecbda1770543df628c159cc9a3ed131be184f747bf4a888cc","4519c92c861a3837cb756d89112f34a479722023505963ee6a60faeca417f395","478fa1d255b133c9cff1754651550c51084c20d87242a0a06fb88c0c102cb9d4","47aeb2997c401286901a8dcecd20add67842ae44b3b9af6d09d3418c3bd1ae9b","555c860c087d69cfdf00e118108ed062f332009641d5248bc4ebf76d156f6385","6138bfd935b10978c9ff76434f65002ebb3049dc13388d65f2bd36b7eb9b6262","66cf7f61ac72391eafd2bc58445897f6f9636d50aebac983c80d763fbfb51e9d","67534a46f4568765f4b4a6c449cd2780ee4707c472d95323a5a5d96603b19b88","7807facb398137c800df0817ee604aa5cc35d22bf0ba66f4f119ff4e6d79ab47","851f702739c745b666f997eab9e6a24c8f54c6b2ffa0d580131f8eed0024d062","8f4ed353f8a8eb51706aa64ebb8dd5ef9491f4605f82aeaaf5ddd1b1f4e4efe2","9e43dbca69d616c84d06efbc1a481754fbe4e517cff433c864d6b541f86aa6d2","a0a62364276ceeeadfa08214db6661449914e632eb543424670aa5a2b33ce043","aa21080af559579b8f7c4facad57a617c97534e6e329448378ee51c7fa390d77","c7a45b55160c98334d562b5a0a377f3bfeca038f357b64138931ac71ef8eeb14","c8fce952bfba03ac8a79dd2dc023762c1f690078b5de5249024e6ce5214c266b","ca6ee725acdf1fda8aac94b9f5edf84c159dc7f1d019041657404f52a25fc669","ccbce887ed9348899b8240b93a92862d9c3149528efaa861a7055ae9b040a490","ce46d4a941828807095df7dc145696bfb04a822825575b961d85aab73bcb3264","d31fa91007a382b149bb65109b82b2e7e275d56d14c83439340267c1768bf201","d7f3f8709eba8e75db0e1910265d398ef51abc457f22c15f74d4cfd24f8e3bb4","d8e0c51916cebd7d4a1c7d1cd31133a9350c0ec1ecba6ad8246870e79af01345","e5c6384fbd05ecdae86b8aaabf6313707ed6fb469eb16c8cb71815e5c6de36fb","e76b88f74ab4938160315e9a093156a22e2236f289ecb9d55b3a790e5243dab0","e890f874fe3f59bd7b808f866ad64746c6e57909fafe30cef706220b8dee381f","ea7c59a08a28a6bf2fa9e9f3b7177ac42feea9596ec9fbc767e65e432f20aca4","eec2d7e033bf7ef5e609867a18584892c6b8fafab2f54fdf679b65e1b3f7c92e","f0ea3e05fc5b21979e726ca085b3943ea829d25e48db07cc497272738df0545e","f395b191527332f145bb6c3e667e3e82c7c8ae34d36ef8fbd9b873912bcb4dde","fd520db3b21e384067ebda0d7cf332dc3b6c6a08d17f85db1e91faabe497912f","febf63ee336d9e5bf68ebb7b4c978e11365d7dc74415cc472a95ed5e1da30492"],"recordQualifiers":{},"scopeLabel":"OMIM:621248","sourceIds":["OMIM:621248"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0001999/ORPHA:275766","label":"Idiopathic pulmonary arterial hypertension","mondoId":"MONDO:0001999","onsetQualifier":null,"recordKeys":["0238fc0b31e0146a79e35a19c6ff04a638ede39ecf0d718cc73913619558764d","08f86c761fbb8f6d8578f75071642ac49c7bfab7436592612ad23205dbb480d3","2c1289b96d9b2ab8be9018fc9f43967c8242f837ee6958e89fb2b06ef13e68fd","32a55d19a516ca2acdc7ca3d840eb2e795472c851c479b80c1a614fe00ff1ff3","346f2c0fb0a7db6cf1d80f70003ca7f0544976ea6dffb7b3e6fb20f0c1237159","3577bebfc96049e38b79273b4eb92dd9fae19c26f59f41b1564b2d28e00ba5ea","56f559fdff5dbad195815b1224c0f9f43c63de6f63d70debf4c87501db999572","582c1548d5fad6af3ff2102499a8ea8650cbabec509648f6e35f78119386ab7f","5859db8014bbbb5710faaa47b61cb03eef111b03504e91ac1779d78da54e1cf5","72f481e764a925a23d6968c54c491e0449d75b32158cd0356ae018583aad3443","7c6d8936d61bcd694eb1e7aa315a8d126f9d012595680e3a2a993eb3e854bb7c","95c15eb5923604d66753cf8b1cfff92b99948bc08c12538b85e39bc9d7468ce1","c202c39bce9aff7acb7049c9a25a68f2367aff0d4bdd298d7748343636f593d5","c49e85b7848817e17fe4703d5c1e28b500a4e80dcf7a817f75132f479c36e604","cde26804e21c2fc2731b489daa72e4716c8136c7abe2921ec51f2a9aba59d3b8","ea2d9c536589d2935077b3bb16d570cfa8672f3893a42ee4d1894da0a40806da","fcf6fed092009a63a7fb067bf4d1c99e4790ff35d6c1c06967c57402e4cb4d2b","ffb6fc5b2515b8460e484a3d481bc1894eb3377cba999de74d3546727f078296"],"recordQualifiers":{},"scopeLabel":"ORPHA:275766","sourceIds":["ORPHA:275766"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0015924/ORPHA:422","label":"Idiopathic/heritable pulmonary arterial hypertension","mondoId":"MONDO:0015924","onsetQualifier":null,"recordKeys":["08e023fc6f491e1e7a973994ba6735eb238d5f4980ba3698ef89f0d92fb432b5","0944ef6a2ae006b55ea0bbb39bb9c14c1654606019c37eb43204b8f0f44eb193","19b32c16c999e0e0118158e689031e2dc88ddb1e1fbe15f89972b55ed0b97f63","42e77da366c267ce49013b2406645d402848ec25aca3ec284a520823a512cec6","7e5273f564f92e71b6fea7383fe20353f326999e347be13f1e955cc9c7a4d0ef","9a21f67093a26210cc36473d4e9e11803a30d901f5f9f484d17a44f7598ce635","a19916d24aa021665194b00733733abbbf3ec950fa4b1e03d13531f0afeb577d","d401a402f16df46ec93150e5778a453bab82b894d4aca8930771669bcbb54646","d7a33e68f2271ae6bfb76de4a517af6a948a87f306f2c82ca394ebbf170a87ae","e3ff6ab35f250c910d93d172da8d4bfe7c0ef1faac6665f8f45b584614c5ad11","ed3395c1e9a29e44c8cf2eff30e71f6dc1ed7912363af7b8b1916e6781c1fc3d","ee28165f3f8ee47c3af28737e18ad167d1e8ef528ea1cf7578f35dde8632d6b3","fa2991b74afb15fe1810d35279fbaa223dac257b36e2a9917006623397e9a463"],"recordQualifiers":{},"scopeLabel":"ORPHA:422","sourceIds":["ORPHA:422"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0019944/ORPHA:97214","label":"Eisenmenger syndrome","mondoId":"MONDO:0019944","onsetQualifier":null,"recordKeys":["019030687e652d4b6334fb8ce0a41b3eae6ec2ebcf84af3bbdfc340983180233","06a51426e055dfd5c6d8672f63fdcac8d92582882306e05d19590041121c2727","074510bae66e1dbd3d3e70eb4a42638ee8d2294b01dfec2a18904c38ab8876f6","0e8871d40b8d12ad6a7b2d08aa11cbef6e65dc646871e63045b70fae854777b3","137cbfe80c16080486eed5fdac8593e09da222fcc8a1cba2ac5dea62ab9ca497","18097497c2a3f7d97b86d752683e5e6e509e94e83dd6f12f7ca5aec5662f3e68","1f214d8ebebec504e413ac0b3fa9f3a573b60895a12d9fcd5ef690bb2520d506","20d32995c6cc2cf66eb9731e08057ec787dc80dac45b4291c835c5b11a3b711c","21595406b95aefcb7caba35afa5bd8ee3fd2a617e8340fceb141232a204e3ef9","269b24bbf1fc7b9fea977183837f58c700bf8d1505c0afe7c4b97b1ca25814c6","2854c29230cdccc986608b172dff53ba1277b68823d4e6b34e8b55167d4ea668","2d73a834ec1a4a21a53bbf2a3db53633a94b75077f922ba0f628dfa3756fe3e9","33a01b4191d92e4c6f8d979f6b0b5c91a0cda52c7994cee210273e370f6d55c1","36e9db13262fdad3fef86a230ba255d6fb4a40325462ab1166be85a7e77f2dd3","3f3c8807e7beb00d0e3f17024716a83885cd05f2430999ac8b7d04a35439e3cf","4034a3382682e0d5bd75fa39a2ee9ffd5541868c8b0af14029c3e613f5fa57cd","437fa229ffdedc9ddd48a72af9bbf6672b4592dc90b3a653afaa1b6db9c2e7a5","4907251e82a1ba476acd419038bf7cde1a2c16d17956961b24efd6c3d9c1795c","4ca03db635dad7f7bd370d6b9db7f7e164e695abe79382a51e50ee0725e4afd1","4e6f510fb0352cae9f4fe3fc13d9a1fe17eb4d6d0914d1df0783619831324d16","53a8b65d4375457b588bc16426b43402ea3eabe62faadd7e41709c104898c193","58f181ee628704e55da71ab546843030eb305b17af362817897224b317c63fc2","5df7aaa5903b2d40988546b263c2b3f29d36e0b033c84bfc8bb0c613b1598135","6215ca7463f4834823b8539a42152f8b0a089c63000d1daaff86cb49c5012ad2","63d1ed6a0c59bd0ff9d484804f3763cb21dc2a3362b4a725f8cf010dd49e8381","656e42e06180f364f2af8705df592d8fd53e91b452a4e192dc087977bde0b4c3","698dfd943dafc2bccbb477dfbe90f9776f689ff53c8cb57108c127cd03cdddad","6b48a5184818af246ad9cb2fb99a9e1b0f45650fed59d9b83a8a09a8b02789f1","6cf415ed58e5f2e1fcd0761f63a249553c1b3c66f026edea58ea107ce737aaeb","73ea5800518ecf1a42624f7e1beec400f5517766a85432585b798833d3e91dc5","86b71420d743790d011d8f81ffe150f7d63e9adf719fe348a2c82526f3727a6b","8a5371f947e08bc73bcd743b65414d21ead040ab8c0a0e9ff4fe87765032d11f","8e218eee0700c5b815c2a537a0a0dc6328e2bcf728a361f448b8dbab4f76e5c4","98db5fa48ebb036aeff38309e9e748c670132606f90b2e47fcac38ff008f8bcc","9e088c1643c05767136a03fbc116dc3fa0464b273fd9601fc5f6cc482c5d8da6","a17701f884eeebf1eef2f83c7b6e523b64204f67939e1ec2e7b7cd8e640c1f22","b03cc907718760b182abf6dbad062900c08e3236d0f69abf6b7de8fdc71e0669","b831257fe49b407bcdcb707e24ba2b3ed69be63cbb6b5d6ca8f932c8b2c8a8df","bdfbdc929545981d3ada88d48da4af3adb833fd21ef38c567d68d373ed6e7fa4","be61d3b5c819d3d013426c44cc9f3279525c2b87d47c2a3830ce213c819930b3","cd871f41ec7870eb208d645120aab14aabb188734c843e3c2bc515d5cbb82229","ce80b447b681e7f04a6a38cedb00e9ebb9e5596ad99acea1f2a5411ccb551aca","d254255cbc2df464821f6bd46dddfd1c740698cc5784d405dc40fc591eab7099","d71790287de94db1e6ec7c88566a0755f359c690c545cdbea114efed42c29451","d8e39d4bd1759b3917faa3b7f48e78cd06c97cfddfdbd29beeb0c6ffa66f888f","e22dc4f51a5db8cc2754355efd6c9007348a760c1e4f364a69ba9acaf871f928","e2b99ed7fc7812bfa78b2171ac628a7986ee7ab342e59dc01ea67e7aea6fd654","e64e5ca91164047d63037b185fdc41dbefc01c47509998a467875a538e2831e4","e7c78bb7edbe2ce4f6462d8e3718136b95e63698cb35b2a4ae2ba0023469ae36","ed51d7443d9dd2841bcb215e770b1b7eab3c974938937dad54acbaee91b76ec9","eea8f2a0439d7f6bc2a0ddec3485e4289f6c6328d4d80a8eaad2657339d80c47","ef206616ebadbbf716d7c7d79eaa86f27a5459a74ec53933743545dd8e4c0b62","f44a620dee9c6e3b450dd16c593fa6f7172c0e1152b89052a36c37c0c723baa7","fafedb3c538c6f784db7ed22f87157228ab9c9211034702613c4abf7e70a1528","fbc17191ea1bdb88291f4330628c881abde371890869f781147fedca05bb690a","fdc4ef4cced8ca810e778f868980f267b38e19bc0b31477e506e673d06f808c8","ff2d2deb214bcc0bbd8bcc0df7d0bec912970f55f69a592f38228ef4cbd99d93","fff5f545397bc799642cd6de3c373f4be6e75f3b4c26213ec5ae25dbf7b3de2f"],"recordQualifiers":{},"scopeLabel":"ORPHA:97214","sourceIds":["ORPHA:97214"],"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:0024533/OMIM:178600","MONDO:0009935/OMIM:265400","MONDO:0014134/OMIM:615342","MONDO:0014135/OMIM:615343"],"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":77,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":190,"sourceGroups":{"omim":16,"orphanet":89,"published":85}},"features":[{"hpoId":"HP:0003270","label":"Abdominal distention","primary":false},{"hpoId":"HP:0001892","label":"Abnormal bleeding","primary":false},{"hpoId":"HP:0011025","label":"Abnormal cardiovascular system physiology","primary":false},{"hpoId":"HP:0031138","label":"Abnormal circulating B-type natriuretic peptide concentration","primary":false},{"hpoId":"HP:0001627","label":"Abnormal heart morphology","primary":false},{"hpoId":"HP:3000042","label":"Abnormal jugular vein morphology","primary":false},{"hpoId":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","primary":false},{"hpoId":"HP:0001977","label":"Abnormal thrombosis","primary":false},{"hpoId":"HP:0003549","label":"Abnormality of connective tissue","primary":false},{"hpoId":"HP:0001392","label":"Abnormality of the liver","primary":false},{"hpoId":"HP:0031687","label":"Abnormally loud pulmonic component of the second heart sound","primary":false},{"hpoId":"HP:0033376","label":"Alveolar septal thickening","primary":false},{"hpoId":"HP:0001681","label":"Angina pectoris","primary":false},{"hpoId":"HP:0001785","label":"Ankle swelling","primary":false},{"hpoId":"HP:0003493","label":"Antinuclear antibody positivity","primary":false},{"hpoId":"HP:0011604","label":"Aortopulmonary window","primary":false},{"hpoId":"HP:0002104","label":"Apnea","primary":false},{"hpoId":"HP:0011353","label":"Arterial intimal fibrosis","primary":false},{"hpoId":"HP:0001541","label":"Ascites","primary":false},{"hpoId":"HP:0005110","label":"Atrial fibrillation","primary":false},{"hpoId":"HP:0004749","label":"Atrial flutter","primary":false},{"hpoId":"HP:0001631","label":"Atrial septal defect","primary":false},{"hpoId":"HP:0001678","label":"Atrioventricular block","primary":false},{"hpoId":"HP:0006695","label":"Atrioventricular canal defect","primary":false},{"hpoId":"HP:0000717","label":"Autism","primary":false},{"hpoId":"HP:0006689","label":"Bacterial endocarditis","primary":false},{"hpoId":"HP:0030049","label":"Brain abscess","primary":false},{"hpoId":"HP:0033390","label":"Bronchial artery dilatation","primary":false},{"hpoId":"HP:0001695","label":"Cardiac arrest","primary":false},{"hpoId":"HP:0100749","label":"Chest pain","primary":false},{"hpoId":"HP:0031352","label":"Chest tightness","primary":false},{"hpoId":"HP:0004870","label":"Chronic hemolytic anemia","primary":false},{"hpoId":"HP:0006510","label":"Chronic pulmonary obstruction","primary":false},{"hpoId":"HP:0001217","label":"Clubbing","primary":false},{"hpoId":"HP:0011712","label":"Complete right bundle branch block","primary":false},{"hpoId":"HP:0001635","label":"Congestive heart failure","primary":false},{"hpoId":"HP:0012735","label":"Cough","primary":false},{"hpoId":"HP:0000961","label":"Cyanosis","primary":false},{"hpoId":"HP:0045051","label":"Decreased DLCO","primary":false},{"hpoId":"HP:0002094","label":"Dyspnea","primary":false},{"hpoId":"HP:0003388","label":"Easy fatigability","primary":false},{"hpoId":"HP:0012098","label":"Edema of the dorsum of feet","primary":false},{"hpoId":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","primary":false},{"hpoId":"HP:0031185","label":"Elevated circulating NT-proBNP concentration","primary":false},{"hpoId":"HP:0030848","label":"Elevated jugular venous pressure","primary":false},{"hpoId":"HP:0004890","label":"Elevated pulmonary artery pressure","primary":false},{"hpoId":"HP:0005168","label":"Elevated right atrial pressure","primary":false},{"hpoId":"HP:0000421","label":"Epistaxis","primary":false},{"hpoId":"HP:0003546","label":"Exercise intolerance","primary":false},{"hpoId":"HP:0002875","label":"Exertional dyspnea","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0012378","label":"Fatigue","primary":false},{"hpoId":"HP:0011705","label":"First degree atrioventricular block","primary":false},{"hpoId":"HP:0007430","label":"Generalized edema","primary":false},{"hpoId":"HP:0025179","label":"Ground-glass opacification","primary":false},{"hpoId":"HP:0030148","label":"Heart murmur","primary":false},{"hpoId":"HP:0002105","label":"Hemoptysis","primary":false},{"hpoId":"HP:0032979","label":"Hemosiderin-laden macrophages in bronchoalveolar fluid","primary":false},{"hpoId":"HP:0030849","label":"Hepatojugular reflux","primary":false},{"hpoId":"HP:0002240","label":"Hepatomegaly","primary":false},{"hpoId":"HP:0001609","label":"Hoarse voice","primary":false},{"hpoId":"HP:0100724","label":"Hypercoagulability","primary":false},{"hpoId":"HP:0000822","label":"Hypertension","primary":false},{"hpoId":"HP:0001639","label":"Hypertrophic cardiomyopathy","primary":false},{"hpoId":"HP:0002149","label":"Hyperuricemia","primary":false},{"hpoId":"HP:0004840","label":"Hypochromic microcytic anemia","primary":false},{"hpoId":"HP:0000821","label":"Hypothyroidism","primary":false},{"hpoId":"HP:0012418","label":"Hypoxemia","primary":false},{"hpoId":"HP:6000313","label":"Incomplete right bundle branch block","primary":false},{"hpoId":"HP:0005518","label":"Increased mean corpuscular volume","primary":false},{"hpoId":"HP:0030876","label":"Increased pulmonary capillary wedge pressure","primary":false},{"hpoId":"HP:0005317","label":"Increased pulmonary vascular resistance","primary":false},{"hpoId":"HP:0011671","label":"Interrupted inferior vena cava with azygous continuation","primary":false},{"hpoId":"HP:0001891","label":"Iron deficiency anemia","primary":false},{"hpoId":"HP:0005681","label":"Juvenile rheumatoid arthritis","primary":false},{"hpoId":"HP:0031854","label":"Left Isomerism","primary":false},{"hpoId":"HP:0025169","label":"Left ventricular systolic dysfunction","primary":false},{"hpoId":"HP:0012382","label":"Left-to-right shunt","primary":false},{"hpoId":"HP:0001254","label":"Lethargy","primary":false},{"hpoId":"HP:0001909","label":"Leukemia","primary":false},{"hpoId":"HP:0001324","label":"Muscle weakness","primary":false},{"hpoId":"HP:0002870","label":"Obstructive sleep apnea","primary":false},{"hpoId":"HP:0001962","label":"Palpitations","primary":false},{"hpoId":"HP:0001643","label":"Patent ductus arteriosus","primary":false},{"hpoId":"HP:0001655","label":"Patent foramen ovale","primary":false},{"hpoId":"HP:0010741","label":"Pedal edema","primary":false},{"hpoId":"HP:0012398","label":"Peripheral edema","primary":false},{"hpoId":"HP:0012021","label":"Persistent patent ductus venosus","primary":false},{"hpoId":"HP:0001622","label":"Premature birth","primary":false},{"hpoId":"HP:0002092","label":"Pulmonary arterial hypertension","primary":false},{"hpoId":"HP:0033424","label":"Pulmonary arterial hypertension with lack of acute response to NO challenge","primary":false},{"hpoId":"HP:0033423","label":"Pulmonary arterial hypertension with positive acute response to NO challenge","primary":false},{"hpoId":"HP:0004964","label":"Pulmonary arterial medial hypertrophy","primary":false},{"hpoId":"HP:0005308","label":"Pulmonary artery vasoconstriction","primary":false},{"hpoId":"HP:0005312","label":"Pulmonary aterial intimal fibrosis","primary":false},{"hpoId":"HP:0005954","label":"Pulmonary capillary hemangiomatosis","primary":false},{"hpoId":"HP:0001642","label":"Pulmonic stenosis","primary":false},{"hpoId":"HP:0006673","label":"Reduced systolic function","primary":false},{"hpoId":"HP:0000083","label":"Renal insufficiency","primary":false},{"hpoId":"HP:0002098","label":"Respiratory distress","primary":false},{"hpoId":"HP:0002093","label":"Respiratory insufficiency","primary":false},{"hpoId":"HP:0030718","label":"Right atrial enlargement","primary":false},{"hpoId":"HP:0033567","label":"Right axis deviation","primary":false},{"hpoId":"HP:0005133","label":"Right ventricular dilatation","primary":false},{"hpoId":"HP:0001708","label":"Right ventricular failure","primary":false},{"hpoId":"HP:0001667","label":"Right ventricular hypertrophy","primary":false},{"hpoId":"HP:0001694","label":"Right-to-left shunt","primary":false},{"hpoId":"HP:0001297","label":"Stroke","primary":false},{"hpoId":"HP:0005115","label":"Supraventricular arrhythmia","primary":false},{"hpoId":"HP:0004755","label":"Supraventricular tachycardia","primary":false},{"hpoId":"HP:0001279","label":"Syncope","primary":false},{"hpoId":"HP:0001009","label":"Telangiectasia","primary":false},{"hpoId":"HP:0001636","label":"Tetralogy of Fallot","primary":false},{"hpoId":"HP:0001907","label":"Thromboembolism","primary":false},{"hpoId":"HP:0005180","label":"Tricuspid regurgitation","primary":false},{"hpoId":"HP:0011950","label":"Unusual bronchiolitis","primary":false},{"hpoId":"HP:0004308","label":"Ventricular arrhythmia","primary":false},{"hpoId":"HP:0001629","label":"Ventricular septal defect","primary":false},{"hpoId":"HP:0004756","label":"Ventricular tachycardia","primary":false},{"hpoId":"HP:0002321","label":"Vertigo","primary":false},{"hpoId":"HP:0030828","label":"Wheezing","primary":false}],"ledeHtml":"Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. Pulmonary hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, blood pressure increases in the pulmonary artery and in the right ventricle of the heart, which is the chamber that pumps blood into the pulmonary artery. Ultimately, the increased blood pressure can damage the right ventricle of the heart.","mondoId":"MONDO:0015924","records":[{"frequencyKind":"range","key":"019030687e652d4b6334fb8ce0a41b3eae6ec2ebcf84af3bbdfc340983180233","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003546","is_excluded":false,"label":"Exercise intolerance","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0238fc0b31e0146a79e35a19c6ff04a638ede39ecf0d718cc73913619558764d","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001635","is_excluded":false,"label":"Congestive heart failure","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"026dc31ea14ff92b2fd69696d7ceff80e3bf35d013717e8067c9964e97a98823","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"8/27","hpo_id":"HP:0001655","is_excluded":false,"label":"Patent foramen ovale","onset_id":null,"reference":"PMID:37895315;PMID:35618278;PMID:30044643","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"03d9b13fd3706f364849197740abb2a48e568d85d035bea78dc4b7b4b5518be1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:265400","disease_name":"Pulmonary hypertension, primary, autosomal recessive","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001324","is_excluded":false,"label":"Muscle weakness","onset_id":null,"reference":"OMIM:265400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"03f44b67150e6b502171219522b1ad2e62a6dca75939a6c1dcc4a5ea595f8f9a","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:265400","disease_name":"Pulmonary hypertension, primary, autosomal recessive","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001681","is_excluded":false,"label":"Angina pectoris","onset_id":null,"reference":"OMIM:265400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"06a51426e055dfd5c6d8672f63fdcac8d92582882306e05d19590041121c2727","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0004308","is_excluded":false,"label":"Ventricular arrhythmia","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"06f25a29e34fb25cc2f1503d7b60a8d1e376f4fa3e48371c41e6301184ecbd43","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:178600","disease_name":"Pulmonary hypertension, primary, 1","evidence":"PCS","frequency_raw":"14/14","hpo_id":"HP:0002092","is_excluded":false,"label":"Pulmonary arterial hypertension","onset_id":null,"reference":"PMID:34953004;PMID:11015450","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"07014b997bbe71171659003159d45214ceacdb721e342a836a4ca733c14569a9","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005133","is_excluded":false,"label":"Right ventricular dilatation","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"071d70932892d097eda6eb09f8ad068a0e6a7451d30205681455a8e393819cdb","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:178600","disease_name":"Pulmonary hypertension, primary, 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001009","is_excluded":false,"label":"Telangiectasia","onset_id":null,"reference":"OMIM:178600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"074510bae66e1dbd3d3e70eb4a42638ee8d2294b01dfec2a18904c38ab8876f6","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001962","is_excluded":false,"label":"Palpitations","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"08e023fc6f491e1e7a973994ba6735eb238d5f4980ba3698ef89f0d92fb432b5","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:422","disease_name":"Idiopathic/heritable pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005133","is_excluded":false,"label":"Right ventricular dilatation","onset_id":null,"reference":"ORPHA:422","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"08f86c761fbb8f6d8578f75071642ac49c7bfab7436592612ad23205dbb480d3","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040280","hpo_id":"HP:0002094","is_excluded":false,"label":"Dyspnea","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0944ef6a2ae006b55ea0bbb39bb9c14c1654606019c37eb43204b8f0f44eb193","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:422","disease_name":"Idiopathic/heritable pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011025","is_excluded":false,"label":"Abnormal cardiovascular system physiology","onset_id":null,"reference":"ORPHA:422","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"0a856e22cc22f886298b370eb8a25ee49e2d8bfbc23929c8775b7c05b57d1465","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001708","is_excluded":false,"label":"Right ventricular failure","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0c5369a52aa9f29c0e3a8e296d6b9c67d570fc89589c3c7f52aa8cde2c038f0f","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0031185","is_excluded":false,"label":"Elevated circulating NT-proBNP concentration","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0cf4ce04fbf16bc2329bfc0659ec5b49c57fb42f160b3ce9e5a4a2a3ae9ec651","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:178600","disease_name":"Pulmonary hypertension, primary, 1","evidence":"IEA","frequency_raw":"HP:0040282","hpo_id":"HP:0004964","is_excluded":false,"label":"Pulmonary arterial medial hypertrophy","onset_id":null,"reference":"OMIM:178600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0e8871d40b8d12ad6a7b2d08aa11cbef6e65dc646871e63045b70fae854777b3","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001392","is_excluded":false,"label":"Abnormality of the liver","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"107fa062e52ec7d29a079c41522ff4bc30c74d9ee338c6db6a63b2baaca178fe","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:178600","disease_name":"Pulmonary hypertension, primary, 1","evidence":"PCS","frequency_raw":"HP:0040281","hpo_id":"HP:0005168","is_excluded":false,"label":"Elevated right atrial pressure","onset_id":null,"reference":"OMIM:178600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"137cbfe80c16080486eed5fdac8593e09da222fcc8a1cba2ac5dea62ab9ca497","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001643","is_excluded":false,"label":"Patent ductus arteriosus","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"14413f1142920c17f33231654513767dee8e0845cd8eb3aac3519dc0ecf944f0","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"6/21","hpo_id":"HP:0002105","is_excluded":false,"label":"Hemoptysis","onset_id":null,"reference":"PMID:37895315;PMID:35618278","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1497651eac2f22d529b82d129f2e98333003de4d8673a35d77b44e557416079a","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0033376","is_excluded":false,"label":"Alveolar septal thickening","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"17ad229528d36c1a9c2e3dcc7bd5891536613da4368e4529ea263e85f3e692e0","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"2/7","hpo_id":"HP:0031854","is_excluded":false,"label":"Left Isomerism","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"18097497c2a3f7d97b86d752683e5e6e509e94e83dd6f12f7ca5aec5662f3e68","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000961","is_excluded":false,"label":"Cyanosis","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"18beda0d5dac4e025c65a762ed74a9d3df7e1bd5e425746e0e5c26619e0e3ed4","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0005954","is_excluded":false,"label":"Pulmonary capillary hemangiomatosis","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"19b32c16c999e0e0118158e689031e2dc88ddb1e1fbe15f89972b55ed0b97f63","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:422","disease_name":"Idiopathic/heritable pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0030848","is_excluded":false,"label":"Elevated jugular venous pressure","onset_id":null,"reference":"ORPHA:422","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1c05674e58fa0ff039ee0f9ab4460b9098dbdcd7d20620861799391371913a2a","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0002104","is_excluded":false,"label":"Apnea","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1d829b2db414b6a94dbf70635da2f96a74bfc738072645dce8076c4a7a1cd248","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"3/5","hpo_id":"HP:0002875","is_excluded":false,"label":"Exertional dyspnea","onset_id":null,"reference":"PMID:33952808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1de431e75e1aaf6c86c579bc01206959553c852390d8f67c3c653c96cb440912","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002870","is_excluded":false,"label":"Obstructive sleep apnea","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1f214d8ebebec504e413ac0b3fa9f3a573b60895a12d9fcd5ef690bb2520d506","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001609","is_excluded":false,"label":"Hoarse voice","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"20d32995c6cc2cf66eb9731e08057ec787dc80dac45b4291c835c5b11a3b711c","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001694","is_excluded":false,"label":"Right-to-left shunt","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"21595406b95aefcb7caba35afa5bd8ee3fd2a617e8340fceb141232a204e3ef9","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001891","is_excluded":false,"label":"Iron deficiency anemia","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"221ebdc1c6d371ed55f14b011e668836b16b2f53656322ef4f216704a95a3bf5","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/7","hpo_id":"HP:0006673","is_excluded":false,"label":"Reduced systolic function","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2428365cd0900097718beb06b0c02e3f1dc7e3cfa716c26939c39aa73aa11253","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000821","is_excluded":false,"label":"Hypothyroidism","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"24a1c4cb6fab85b06222ed9356569a2de511e5c942b162bb89ab6d27c4e683f5","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:615344","disease_name":"Pulmonary hypertension, primary, 4","evidence":"PCS","frequency_raw":"2/9","hpo_id":"HP:0011712","is_excluded":false,"label":"Complete right bundle branch block","onset_id":null,"reference":"PMID:23883380","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"25a9f9ef3af58d4fd7a5b711d103119731bab1309216e65ee4017cb04994a130","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"3/8","hpo_id":"HP:0001642","is_excluded":false,"label":"Pulmonic stenosis","onset_id":null,"reference":"PMID:33794346","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"25ce782c1a4484af0545c72a5e7f914c0c95516dc65dc8fdab3e9fcd579e83b0","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0004749","is_excluded":false,"label":"Atrial flutter","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"269b24bbf1fc7b9fea977183837f58c700bf8d1505c0afe7c4b97b1ca25814c6","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004756","is_excluded":false,"label":"Ventricular tachycardia","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2854c29230cdccc986608b172dff53ba1277b68823d4e6b34e8b55167d4ea668","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"29d4c4a18cb97f05e91da61c5aa9f647f730748fa97239371c2c9bf0595c97e5","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:265400","disease_name":"Pulmonary hypertension, primary, autosomal recessive","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001279","is_excluded":false,"label":"Syncope","onset_id":null,"reference":"OMIM:265400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2a79bf9c6e6bbee551edd8fc8e427a80280995ad253780134317d97cc57f6501","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0001297","is_excluded":false,"label":"Stroke","onset_id":null,"reference":"PMID:35618278","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2c1289b96d9b2ab8be9018fc9f43967c8242f837ee6958e89fb2b06ef13e68fd","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0004890","is_excluded":false,"label":"Elevated pulmonary artery pressure","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2d73a834ec1a4a21a53bbf2a3db53633a94b75077f922ba0f628dfa3756fe3e9","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001708","is_excluded":false,"label":"Right ventricular failure","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2e2ae7fe310bbe3c2295aa2a2c7086b723e6f363fb1f88416c3820e3a7515a40","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0011712","is_excluded":false,"label":"Complete right bundle branch block","onset_id":null,"reference":"PMID:33952808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"30d74f164a4dae85908ee32c4a46abda9ef49d341e253e147e661cf276c0ffc0","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"5/8","hpo_id":"HP:0033390","is_excluded":false,"label":"Bronchial artery dilatation","onset_id":null,"reference":"PMID:35618278","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"32522f07bdb286c3adfc22e1b8475a2afc2c557b83f3adfd9a1b9486d96a6b9b","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"0/4","hpo_id":"HP:0006530","is_excluded":true,"label":"Abnormal pulmonary interstitial morphology","onset_id":null,"reference":"PMID:30044643","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"32a55d19a516ca2acdc7ca3d840eb2e795472c851c479b80c1a614fe00ff1ff3","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:3000042","is_excluded":false,"label":"Abnormal jugular vein morphology","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"33a01b4191d92e4c6f8d979f6b0b5c91a0cda52c7994cee210273e370f6d55c1","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011227","is_excluded":false,"label":"Elevated circulating C-reactive protein concentration","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"346f2c0fb0a7db6cf1d80f70003ca7f0544976ea6dffb7b3e6fb20f0c1237159","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002105","is_excluded":false,"label":"Hemoptysis","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3577bebfc96049e38b79273b4eb92dd9fae19c26f59f41b1564b2d28e00ba5ea","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001667","is_excluded":false,"label":"Right ventricular hypertrophy","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"36d7b932ee44fba0ca95243c6885c42c165747e6345043304a3a841f984decb7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005681","is_excluded":false,"label":"Juvenile rheumatoid arthritis","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"36e9db13262fdad3fef86a230ba255d6fb4a40325462ab1166be85a7e77f2dd3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001217","is_excluded":false,"label":"Clubbing","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"37477e56136150ee8dbdff5cb1bf684f7f4c4e35adb829272ba6d6783890e03f","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001695","is_excluded":false,"label":"Cardiac arrest","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"385be525e360f90ecbda1770543df628c159cc9a3ed131be184f747bf4a888cc","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0011950","is_excluded":false,"label":"Unusual bronchiolitis","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"392ceaab3c404f47819a810d040b2d066d7f9152401d774ab35006e6ae4bee49","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:178600","disease_name":"Pulmonary hypertension, primary, 1","evidence":"PCS","frequency_raw":"HP:0040282","hpo_id":"HP:0002094","is_excluded":false,"label":"Dyspnea","onset_id":null,"reference":"OMIM:178600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"39a3b98d236d9b321e55495abdf8b1b6400031e92065bd09cf03fd3b4a195fb0","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:265400","disease_name":"Pulmonary hypertension, primary, autosomal recessive","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001667","is_excluded":false,"label":"Right ventricular hypertrophy","onset_id":null,"reference":"PMID:34493544","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3f3c8807e7beb00d0e3f17024716a83885cd05f2430999ac8b7d04a35439e3cf","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0030848","is_excluded":false,"label":"Elevated jugular venous pressure","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4034a3382682e0d5bd75fa39a2ee9ffd5541868c8b0af14029c3e613f5fa57cd","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005317","is_excluded":false,"label":"Increased pulmonary vascular resistance","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"42e77da366c267ce49013b2406645d402848ec25aca3ec284a520823a512cec6","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:422","disease_name":"Idiopathic/heritable pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012378","is_excluded":false,"label":"Fatigue","onset_id":null,"reference":"ORPHA:422","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"437fa229ffdedc9ddd48a72af9bbf6672b4592dc90b3a653afaa1b6db9c2e7a5","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001681","is_excluded":false,"label":"Angina pectoris","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4519c92c861a3837cb756d89112f34a479722023505963ee6a60faeca417f395","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0100749","is_excluded":false,"label":"Chest pain","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"478fa1d255b133c9cff1754651550c51084c20d87242a0a06fb88c0c102cb9d4","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001909","is_excluded":false,"label":"Leukemia","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"47aeb2997c401286901a8dcecd20add67842ae44b3b9af6d09d3418c3bd1ae9b","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"3/5","hpo_id":"HP:0012378","is_excluded":false,"label":"Fatigue","onset_id":null,"reference":"PMID:33952808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"4907251e82a1ba476acd419038bf7cde1a2c16d17956961b24efd6c3d9c1795c","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004840","is_excluded":false,"label":"Hypochromic microcytic anemia","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4b8172d3b8c86af8a0956a7ef3ed92fd640b9aa822b7d058ad0b8208eb7f51a9","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0002093","is_excluded":false,"label":"Respiratory insufficiency","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4c6cb515da48a03dd7d76cbb8d1640ed688740109eeaabc5f717c7dcb8d8c65a","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0025179","is_excluded":false,"label":"Ground-glass opacification","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"4ca03db635dad7f7bd370d6b9db7f7e164e695abe79382a51e50ee0725e4afd1","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001541","is_excluded":false,"label":"Ascites","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4d25a9e3ec4e18469728fc40d3d211a5dd4bc214164b6c9e877d1c2a4d6a2506","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:265400","disease_name":"Pulmonary hypertension, primary, autosomal recessive","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0002092","is_excluded":false,"label":"Pulmonary arterial hypertension","onset_id":null,"reference":"PMID:34493544","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4e6de92ce70322572678adeb349fa4f45dc48ebd4ad915a376d7aba5980b9636","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615343","disease_name":"Pulmonary hypertension, primary, 3","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0005317","is_excluded":false,"label":"Increased pulmonary vascular resistance","onset_id":null,"reference":"PMID:22474227","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"4e6f510fb0352cae9f4fe3fc13d9a1fe17eb4d6d0914d1df0783619831324d16","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001631","is_excluded":false,"label":"Atrial septal defect","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"53a8b65d4375457b588bc16426b43402ea3eabe62faadd7e41709c104898c193","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0100724","is_excluded":false,"label":"Hypercoagulability","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"54f23cea0c9875f9e485fe3c3972c09ad8acc3fcf206c7cfa8861c5b38d76b58","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:265400","disease_name":"Pulmonary hypertension, primary, autosomal recessive","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003388","is_excluded":false,"label":"Easy fatigability","onset_id":null,"reference":"OMIM:265400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"55470c03fe529a36494b33379705d8994f8a22e7a17f49beae6207acbc929950","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:615344","disease_name":"Pulmonary hypertension, primary, 4","evidence":"PCS","frequency_raw":"1/9","hpo_id":"HP:0011705","is_excluded":false,"label":"First degree atrioventricular block","onset_id":null,"reference":"PMID:23883380","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"555c860c087d69cfdf00e118108ed062f332009641d5248bc4ebf76d156f6385","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0012418","is_excluded":false,"label":"Hypoxemia","onset_id":null,"reference":"PMID:38655005","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"56f559fdff5dbad195815b1224c0f9f43c63de6f63d70debf4c87501db999572","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001962","is_excluded":false,"label":"Palpitations","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"582c1548d5fad6af3ff2102499a8ea8650cbabec509648f6e35f78119386ab7f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012098","is_excluded":false,"label":"Edema of the dorsum of feet","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5859db8014bbbb5710faaa47b61cb03eef111b03504e91ac1779d78da54e1cf5","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0030148","is_excluded":false,"label":"Heart murmur","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"58f181ee628704e55da71ab546843030eb305b17af362817897224b317c63fc2","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001892","is_excluded":false,"label":"Abnormal bleeding","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5df7aaa5903b2d40988546b263c2b3f29d36e0b033c84bfc8bb0c613b1598135","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001324","is_excluded":false,"label":"Muscle weakness","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"60113af9b68516efa4e0ac89cbc94a84770413648698de8488cfe5478dd85797","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615343","disease_name":"Pulmonary hypertension, primary, 3","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0004890","is_excluded":false,"label":"Elevated pulmonary artery pressure","onset_id":null,"reference":"PMID:22474227","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6138bfd935b10978c9ff76434f65002ebb3049dc13388d65f2bd36b7eb9b6262","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0030876","is_excluded":true,"label":"Increased pulmonary capillary wedge pressure","onset_id":null,"reference":"PMID:33952808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6139a0b89161abbf1876953b6cdd4d9eb601a95901fdca9fc4609bab1b8fb9f0","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:265400","disease_name":"Pulmonary hypertension, primary, autosomal recessive","evidence":"PCS","frequency_raw":"3/5","hpo_id":"HP:0001708","is_excluded":false,"label":"Right ventricular failure","onset_id":null,"reference":"PMID:34493544","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"6142b45d6db15aedfb0fc3472f1dea6061280a687607ede527cb3430cc6d8c75","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:265400","disease_name":"Pulmonary hypertension, primary, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0012378","is_excluded":false,"label":"Fatigue","onset_id":null,"reference":"OMIM:265400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"6215ca7463f4834823b8539a42152f8b0a089c63000d1daaff86cb49c5012ad2","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012418","is_excluded":false,"label":"Hypoxemia","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"63cbb4ad60419648112be9cc4b5bf66ca6d0969f6c8720b0d56f246e617583cb","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:265400","disease_name":"Pulmonary hypertension, primary, autosomal recessive","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002875","is_excluded":false,"label":"Exertional dyspnea","onset_id":null,"reference":"OMIM:265400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"63d1ed6a0c59bd0ff9d484804f3763cb21dc2a3362b4a725f8cf010dd49e8381","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012398","is_excluded":false,"label":"Peripheral edema","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"646319930c610e413d1a29b347fd4210d6ddd9daaec7edbceeb97e8eb4677470","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:615344","disease_name":"Pulmonary hypertension, primary, 4","evidence":"PCS","frequency_raw":"1/9","hpo_id":"HP:0004749","is_excluded":false,"label":"Atrial flutter","onset_id":null,"reference":"PMID:23883380","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"656e42e06180f364f2af8705df592d8fd53e91b452a4e192dc087977bde0b4c3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010741","is_excluded":false,"label":"Pedal edema","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"66cf7f61ac72391eafd2bc58445897f6f9636d50aebac983c80d763fbfb51e9d","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0006510","is_excluded":false,"label":"Chronic pulmonary obstruction","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"67534a46f4568765f4b4a6c449cd2780ee4707c472d95323a5a5d96603b19b88","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000961","is_excluded":false,"label":"Cyanosis","onset_id":null,"reference":"PMID:37895315;PMID:38655005","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"698dfd943dafc2bccbb477dfbe90f9776f689ff53c8cb57108c127cd03cdddad","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100749","is_excluded":false,"label":"Chest pain","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6a0a0928c71e67f3545c703b11b82a6d6261243648d76a866d2fa362470d6847","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:178600","disease_name":"Pulmonary hypertension, primary, 1","evidence":"IEA","frequency_raw":"HP:0040282","hpo_id":"HP:0005308","is_excluded":false,"label":"Pulmonary artery vasoconstriction","onset_id":null,"reference":"OMIM:178600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"6b48a5184818af246ad9cb2fb99a9e1b0f45650fed59d9b83a8a09a8b02789f1","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011604","is_excluded":false,"label":"Aortopulmonary window","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6b62821985dbad8fbda08eda0a27b76ecfcd224803f81145c14f7f9857cacd37","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:178600","disease_name":"Pulmonary hypertension, primary, 1","evidence":"PCS","frequency_raw":"HP:0040281","hpo_id":"HP:0001708","is_excluded":false,"label":"Right ventricular failure","onset_id":null,"reference":"PMID:9729004","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6cf415ed58e5f2e1fcd0761f63a249553c1b3c66f026edea58ea107ce737aaeb","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002875","is_excluded":false,"label":"Exertional dyspnea","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"72f481e764a925a23d6968c54c491e0449d75b32158cd0356ae018583aad3443","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001785","is_excluded":false,"label":"Ankle swelling","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"73ea5800518ecf1a42624f7e1beec400f5517766a85432585b798833d3e91dc5","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0006689","is_excluded":false,"label":"Bacterial endocarditis","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7807facb398137c800df0817ee604aa5cc35d22bf0ba66f4f119ff4e6d79ab47","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000421","is_excluded":false,"label":"Epistaxis","onset_id":null,"reference":"PMID:35618278","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"7c6d8936d61bcd694eb1e7aa315a8d126f9d012595680e3a2a993eb3e854bb7c","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004870","is_excluded":true,"label":"Chronic hemolytic anemia","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7e5273f564f92e71b6fea7383fe20353f326999e347be13f1e955cc9c7a4d0ef","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:422","disease_name":"Idiopathic/heritable pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002094","is_excluded":false,"label":"Dyspnea","onset_id":null,"reference":"ORPHA:422","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"848b85ac59fd3b8a6330a4f05292f86cb4342d4e28a58fdbb041c25a90c9b728","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001678","is_excluded":false,"label":"Atrioventricular block","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"851f702739c745b666f997eab9e6a24c8f54c6b2ffa0d580131f8eed0024d062","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0001667","is_excluded":false,"label":"Right ventricular hypertrophy","onset_id":null,"reference":"PMID:33952808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"85e289e8d8306f4b517a6cc8a0aa4b54c2d134763889b35e0ec5bc73f2f683b9","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:178600","disease_name":"Pulmonary hypertension, primary, 1","evidence":"PCS","frequency_raw":"HP:0040281","hpo_id":"HP:0005317","is_excluded":false,"label":"Increased pulmonary vascular resistance","onset_id":null,"reference":"PMID:9729004","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"86b71420d743790d011d8f81ffe150f7d63e9adf719fe348a2c82526f3727a6b","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001629","is_excluded":false,"label":"Ventricular septal defect","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8a5371f947e08bc73bcd743b65414d21ead040ab8c0a0e9ff4fe87765032d11f","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005180","is_excluded":false,"label":"Tricuspid regurgitation","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8a6465c0fb4266d7087306a66a3352939bf547fb95bdf008ff10c7f87b15d773","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0000961","is_excluded":false,"label":"Cyanosis","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8bcbc0333ef068f379966036979e774c898da7cece2322cd875d599e9478951a","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615344","disease_name":"Pulmonary hypertension, primary, 4","evidence":"PCS","frequency_raw":"7/9","hpo_id":"HP:0004890","is_excluded":false,"label":"Elevated pulmonary artery pressure","onset_id":null,"reference":"PMID:23883380","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8e218eee0700c5b815c2a537a0a0dc6328e2bcf728a361f448b8dbab4f76e5c4","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001297","is_excluded":false,"label":"Stroke","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8f4ed353f8a8eb51706aa64ebb8dd5ef9491f4605f82aeaaf5ddd1b1f4e4efe2","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"21/21","hpo_id":"HP:0001635","is_excluded":false,"label":"Congestive heart failure","onset_id":null,"reference":"PMID:37895315;PMID:35618278;PMID:38655005","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"95c15eb5923604d66753cf8b1cfff92b99948bc08c12538b85e39bc9d7468ce1","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005180","is_excluded":false,"label":"Tricuspid regurgitation","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9828209b038961af45c2b1a5b490d0273c80cabee002a8a74fad34e814296477","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:178600","disease_name":"Pulmonary hypertension, primary, 1","evidence":"PCS","frequency_raw":"HP:0040281","hpo_id":"HP:0001667","is_excluded":false,"label":"Right ventricular hypertrophy","onset_id":null,"reference":"PMID:9729004","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"98db5fa48ebb036aeff38309e9e748c670132606f90b2e47fcac38ff008f8bcc","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0030049","is_excluded":false,"label":"Brain abscess","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9a21f67093a26210cc36473d4e9e11803a30d901f5f9f484d17a44f7598ce635","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:422","disease_name":"Idiopathic/heritable pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002092","is_excluded":false,"label":"Pulmonary arterial hypertension","onset_id":null,"reference":"ORPHA:422","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9b7bb71b0bd1bf9e2d3ea1ebc3a72e09f24961f97ac503db9b5f6d3527037f42","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:178600","disease_name":"Pulmonary hypertension, primary, 1","evidence":"IEA","frequency_raw":"HP:0040282","hpo_id":"HP:0005312","is_excluded":false,"label":"Pulmonary aterial intimal fibrosis","onset_id":null,"reference":"OMIM:178600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9e088c1643c05767136a03fbc116dc3fa0464b273fd9601fc5f6cc482c5d8da6","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004755","is_excluded":false,"label":"Supraventricular tachycardia","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9e43dbca69d616c84d06efbc1a481754fbe4e517cff433c864d6b541f86aa6d2","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/7","hpo_id":"HP:0011671","is_excluded":false,"label":"Interrupted inferior vena cava with azygous continuation","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a0a62364276ceeeadfa08214db6661449914e632eb543424670aa5a2b33ce043","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/7","hpo_id":"HP:0012021","is_excluded":false,"label":"Persistent patent ductus venosus","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a17701f884eeebf1eef2f83c7b6e523b64204f67939e1ec2e7b7cd8e640c1f22","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002092","is_excluded":false,"label":"Pulmonary arterial hypertension","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a19916d24aa021665194b00733733abbbf3ec950fa4b1e03d13531f0afeb577d","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:422","disease_name":"Idiopathic/heritable pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100749","is_excluded":false,"label":"Chest pain","onset_id":null,"reference":"ORPHA:422","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a8c42c298008b081661d09baa1ab8339fdcc9724df8092c3941f0a167e377122","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:615342","disease_name":"Pulmonary hypertension, primary, 2","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0031687","is_excluded":false,"label":"Abnormally loud pulmonic component of the second heart sound","onset_id":null,"reference":"PMID:19211612","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"aa21080af559579b8f7c4facad57a617c97534e6e329448378ee51c7fa390d77","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000717","is_excluded":false,"label":"Autism","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b03cc907718760b182abf6dbad062900c08e3236d0f69abf6b7de8fdc71e0669","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0031138","is_excluded":false,"label":"Abnormal circulating B-type natriuretic peptide concentration","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b0b194815edf999aefe0e1c4e39a724e10d357cabb10f034e568f11f1a8a4570","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:178600","disease_name":"Pulmonary hypertension, primary, 1","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0012735","is_excluded":false,"label":"Cough","onset_id":null,"reference":"PMID:34953004","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b831257fe49b407bcdcb707e24ba2b3ed69be63cbb6b5d6ca8f932c8b2c8a8df","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006695","is_excluded":false,"label":"Atrioventricular canal defect","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bdfbdc929545981d3ada88d48da4af3adb833fd21ef38c567d68d373ed6e7fa4","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005115","is_excluded":false,"label":"Supraventricular arrhythmia","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"be61d3b5c819d3d013426c44cc9f3279525c2b87d47c2a3830ce213c819930b3","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000083","is_excluded":false,"label":"Renal insufficiency","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c202c39bce9aff7acb7049c9a25a68f2367aff0d4bdd298d7748343636f593d5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0003549","is_excluded":true,"label":"Abnormality of connective tissue","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c49e85b7848817e17fe4703d5c1e28b500a4e80dcf7a817f75132f479c36e604","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010741","is_excluded":false,"label":"Pedal edema","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c5d1033d2516c80545e064ee35c505fe997a5168552a733dbad6e09aa72e1d2c","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615342","disease_name":"Pulmonary hypertension, primary, 2","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005317","is_excluded":false,"label":"Increased pulmonary vascular resistance","onset_id":null,"reference":"PMID:19211612","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c742059c0f1bc041ffb7af7c762707cc6a7f7c350911a1920c8bb45e6ca88ec4","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0002094","is_excluded":false,"label":"Dyspnea","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c7a45b55160c98334d562b5a0a377f3bfeca038f357b64138931ac71ef8eeb14","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0025169","is_excluded":false,"label":"Left ventricular systolic dysfunction","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c8a5cd7f6dea10e7bcc6a4b837d48136b1ebae9ea6bc696a726e578e189b30f6","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615342","disease_name":"Pulmonary hypertension, primary, 2","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0002092","is_excluded":false,"label":"Pulmonary arterial hypertension","onset_id":null,"reference":"PMID:19211612","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c8e7e6d5441d75dc7a6038be9a9caa7bad54901b50b8d055ad774da0a6a46f42","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615344","disease_name":"Pulmonary hypertension, primary, 4","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0033424","is_excluded":false,"label":"Pulmonary arterial hypertension with lack of acute response to NO challenge","onset_id":null,"reference":"PMID:23883380","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c8fce952bfba03ac8a79dd2dc023762c1f690078b5de5249024e6ce5214c266b","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ca32b405633084cca64221ec05d3223a655e12af3431aada929d93e402c66aec","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ca6ee725acdf1fda8aac94b9f5edf84c159dc7f1d019041657404f52a25fc669","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0100724","is_excluded":false,"label":"Hypercoagulability","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ccbce887ed9348899b8240b93a92862d9c3149528efaa861a7055ae9b040a490","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:6000313","is_excluded":false,"label":"Incomplete right bundle branch block","onset_id":null,"reference":"PMID:33952808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"cd871f41ec7870eb208d645120aab14aabb188734c843e3c2bc515d5cbb82229","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002149","is_excluded":false,"label":"Hyperuricemia","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cde26804e21c2fc2731b489daa72e4716c8136c7abe2921ec51f2a9aba59d3b8","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005317","is_excluded":false,"label":"Increased pulmonary vascular resistance","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ce46d4a941828807095df7dc145696bfb04a822825575b961d85aab73bcb3264","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"4/5","hpo_id":"HP:0033567","is_excluded":false,"label":"Right axis deviation","onset_id":null,"reference":"PMID:33952808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ce80b447b681e7f04a6a38cedb00e9ebb9e5596ad99acea1f2a5411ccb551aca","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012382","is_excluded":false,"label":"Left-to-right shunt","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d1815e54ae7f9bbaaa3845a108ac9dc4dfaae3aab4660bf603d39a2cb4b3252c","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0001667","is_excluded":false,"label":"Right ventricular hypertrophy","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d1fc8d51740c9731755048822ec85e4f7ac6d66c5503913551a1de567cb916d4","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0032979","is_excluded":false,"label":"Hemosiderin-laden macrophages in bronchoalveolar fluid","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d254255cbc2df464821f6bd46dddfd1c740698cc5784d405dc40fc591eab7099","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0030849","is_excluded":false,"label":"Hepatojugular reflux","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d31fa91007a382b149bb65109b82b2e7e275d56d14c83439340267c1768bf201","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"11/14","hpo_id":"HP:0045051","is_excluded":false,"label":"Decreased DLCO","onset_id":null,"reference":"PMID:37895315;PMID:35618278","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d401a402f16df46ec93150e5778a453bab82b894d4aca8930771669bcbb54646","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:422","disease_name":"Idiopathic/heritable pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001279","is_excluded":false,"label":"Syncope","onset_id":null,"reference":"ORPHA:422","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d6b55aeb0360f894fb3cfe18249675eece48bcb00d33e25fde13ab5b286d1741","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:615344","disease_name":"Pulmonary hypertension, primary, 4","evidence":"PCS","frequency_raw":"0/9","hpo_id":"HP:0001907","is_excluded":true,"label":"Thromboembolism","onset_id":null,"reference":"PMID:23883380","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d71790287de94db1e6ec7c88566a0755f359c690c545cdbea114efed42c29451","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0030148","is_excluded":false,"label":"Heart murmur","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d7a33e68f2271ae6bfb76de4a517af6a948a87f306f2c82ca394ebbf170a87ae","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:422","disease_name":"Idiopathic/heritable pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0010741","is_excluded":false,"label":"Pedal edema","onset_id":null,"reference":"ORPHA:422","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d7f3f8709eba8e75db0e1910265d398ef51abc457f22c15f74d4cfd24f8e3bb4","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0031352","is_excluded":false,"label":"Chest tightness","onset_id":null,"reference":"PMID:33952808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d8e0c51916cebd7d4a1c7d1cd31133a9350c0ec1ecba6ad8246870e79af01345","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"10/10","hpo_id":"HP:0001643","is_excluded":false,"label":"Patent ductus arteriosus","onset_id":null,"reference":"PMID:37895315;PMID:33794346","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d8e39d4bd1759b3917faa3b7f48e78cd06c97cfddfdbd29beeb0c6ffa66f888f","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001279","is_excluded":false,"label":"Syncope","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"df1571041f5959ecb623264fb3e76649d9b759596508532653073932f950c56f","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:178600","disease_name":"Pulmonary hypertension, primary, 1","evidence":"IEA","frequency_raw":"HP:0040282","hpo_id":"HP:0001977","is_excluded":false,"label":"Abnormal thrombosis","onset_id":null,"reference":"OMIM:178600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e22dc4f51a5db8cc2754355efd6c9007348a760c1e4f364a69ba9acaf871f928","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003270","is_excluded":false,"label":"Abdominal distention","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e2b99ed7fc7812bfa78b2171ac628a7986ee7ab342e59dc01ea67e7aea6fd654","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002105","is_excluded":false,"label":"Hemoptysis","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e3ff6ab35f250c910d93d172da8d4bfe7c0ef1faac6665f8f45b584614c5ad11","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:422","disease_name":"Idiopathic/heritable pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0030148","is_excluded":false,"label":"Heart murmur","onset_id":null,"reference":"ORPHA:422","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e5c6384fbd05ecdae86b8aaabf6313707ed6fb469eb16c8cb71815e5c6de36fb","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"22/22","hpo_id":"HP:0002092","is_excluded":false,"label":"Pulmonary arterial hypertension","onset_id":null,"reference":"PMID:37895315;PMID:33952808;PMID:35618278;PMID:30044643;PMID:38655005","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e63114caf9f8594b58ccfe536ae92b9f3e9ee9bf8e456df414aa3ec1f512b4a9","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0001622","is_excluded":false,"label":"Premature birth","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e63c935a9a9560b27af49fc89b28c93b657b1bb683545ea86783f273d9fb20a6","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0002092","is_excluded":false,"label":"Pulmonary arterial hypertension","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e64e5ca91164047d63037b185fdc41dbefc01c47509998a467875a538e2831e4","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0030828","is_excluded":false,"label":"Wheezing","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e655174fc056aedd7a9d9d8eee66454028a43bb63e9fbeb29436ac800db15c37","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:620777","disease_name":"Pulmonary hypertension, primary, 6","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001639","is_excluded":false,"label":"Hypertrophic cardiomyopathy","onset_id":null,"reference":"PMID:38230350","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e76b88f74ab4938160315e9a093156a22e2236f289ecb9d55b3a790e5243dab0","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003493","is_excluded":false,"label":"Antinuclear antibody positivity","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e7c78bb7edbe2ce4f6462d8e3718136b95e63698cb35b2a4ae2ba0023469ae36","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002098","is_excluded":false,"label":"Respiratory distress","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e890f874fe3f59bd7b808f866ad64746c6e57909fafe30cef706220b8dee381f","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"3/20","hpo_id":"HP:0001629","is_excluded":false,"label":"Ventricular septal defect","onset_id":null,"reference":"PMID:35618278","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ea2d9c536589d2935077b3bb16d570cfa8672f3893a42ee4d1894da0a40806da","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001279","is_excluded":false,"label":"Syncope","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ea7c59a08a28a6bf2fa9e9f3b7177ac42feea9596ec9fbc767e65e432f20aca4","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005110","is_excluded":false,"label":"Atrial fibrillation","onset_id":null,"reference":"PMID:37895315","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"ec5bdbe80f0b0b084628d45e44b52fbb733bdbc02cc82933d0b7a4bad617687c","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:178600","disease_name":"Pulmonary hypertension, primary, 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000822","is_excluded":false,"label":"Hypertension","onset_id":null,"reference":"OMIM:178600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ec71f6d3cafdc2c7e85cc3fb8bc9a1c48985c29627690e3a5dfd12e2e4420584","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:178600","disease_name":"Pulmonary hypertension, primary, 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011353","is_excluded":false,"label":"Arterial intimal fibrosis","onset_id":null,"reference":"OMIM:178600","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ed3395c1e9a29e44c8cf2eff30e71f6dc1ed7912363af7b8b1916e6781c1fc3d","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:422","disease_name":"Idiopathic/heritable pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001962","is_excluded":false,"label":"Palpitations","onset_id":null,"reference":"ORPHA:422","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ed51d7443d9dd2841bcb215e770b1b7eab3c974938937dad54acbaee91b76ec9","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001627","is_excluded":false,"label":"Abnormal heart morphology","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ee28165f3f8ee47c3af28737e18ad167d1e8ef528ea1cf7578f35dde8632d6b3","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:422","disease_name":"Idiopathic/heritable pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005180","is_excluded":false,"label":"Tricuspid regurgitation","onset_id":null,"reference":"ORPHA:422","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"eea8f2a0439d7f6bc2a0ddec3485e4289f6c6328d4d80a8eaad2657339d80c47","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005110","is_excluded":false,"label":"Atrial fibrillation","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"eec2d7e033bf7ef5e609867a18584892c6b8fafab2f54fdf679b65e1b3f7c92e","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"10/39","hpo_id":"HP:0001631","is_excluded":false,"label":"Atrial septal defect","onset_id":null,"reference":"PMID:37895315;PMID:33952808;PMID:35618278;PMID:30044643;PMID:33794346","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ef206616ebadbbf716d7c7d79eaa86f27a5459a74ec53933743545dd8e4c0b62","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011712","is_excluded":false,"label":"Complete right bundle branch block","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ef6abc7b03cb533a496c1866803de7c9fe56736b84c8d8972ff25f639c086033","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615343","disease_name":"Pulmonary hypertension, primary, 3","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002092","is_excluded":false,"label":"Pulmonary arterial hypertension","onset_id":null,"reference":"PMID:22474227","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f04705946ba6b7c05410a94fb3f3398be1b47a37e86450cfbe2fcbaf6436bb6c","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615344","disease_name":"Pulmonary hypertension, primary, 4","evidence":"PCS","frequency_raw":"7/9","hpo_id":"HP:0002092","is_excluded":false,"label":"Pulmonary arterial hypertension","onset_id":null,"reference":"PMID:23883380","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f0ea3e05fc5b21979e726ca085b3943ea829d25e48db07cc497272738df0545e","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"2/14","hpo_id":"HP:0033423","is_excluded":false,"label":"Pulmonary arterial hypertension with positive acute response to NO challenge","onset_id":null,"reference":"PMID:35618278","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f395b191527332f145bb6c3e667e3e82c7c8ae34d36ef8fbd9b873912bcb4dde","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"13/15","hpo_id":"HP:0033424","is_excluded":false,"label":"Pulmonary arterial hypertension with lack of acute response to NO challenge","onset_id":null,"reference":"PMID:35618278","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f44a620dee9c6e3b450dd16c593fa6f7172c0e1152b89052a36c37c0c723baa7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001254","is_excluded":false,"label":"Lethargy","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fa2991b74afb15fe1810d35279fbaa223dac257b36e2a9917006623397e9a463","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:422","disease_name":"Idiopathic/heritable pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"ORPHA:422","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fafedb3c538c6f784db7ed22f87157228ab9c9211034702613c4abf7e70a1528","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001636","is_excluded":false,"label":"Tetralogy of Fallot","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fbbae77e1e0b6792369e416454b341cc931bfd44e550e3dcae198963a48af8ef","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615344","disease_name":"Pulmonary hypertension, primary, 4","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0005317","is_excluded":false,"label":"Increased pulmonary vascular resistance","onset_id":null,"reference":"PMID:23883380","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fbc17191ea1bdb88291f4330628c881abde371890869f781147fedca05bb690a","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012378","is_excluded":false,"label":"Fatigue","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fcf6fed092009a63a7fb067bf4d1c99e4790ff35d6c1c06967c57402e4cb4d2b","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002092","is_excluded":false,"label":"Pulmonary arterial hypertension","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fd520db3b21e384067ebda0d7cf332dc3b6c6a08d17f85db1e91faabe497912f","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"3/5","hpo_id":"HP:0030718","is_excluded":false,"label":"Right atrial enlargement","onset_id":null,"reference":"PMID:33952808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fdc4ef4cced8ca810e778f868980f267b38e19bc0b31477e506e673d06f808c8","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0007430","is_excluded":false,"label":"Generalized edema","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fe640f48c7554377e16748f478c9efed4af321424cf53a83dd66c56fef65f688","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615343","disease_name":"Pulmonary hypertension, primary, 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002094","is_excluded":false,"label":"Dyspnea","onset_id":null,"reference":"OMIM:615343","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"febf63ee336d9e5bf68ebb7b4c978e11365d7dc74415cc472a95ed5e1da30492","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:621248","disease_name":"Pulmonary hypertension, primary, 7","evidence":"PCS","frequency_raw":"30/30","hpo_id":"HP:0005317","is_excluded":false,"label":"Increased pulmonary vascular resistance","onset_id":null,"reference":"PMID:37895315;PMID:35618278;PMID:30044643;PMID:38655005","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ff2d2deb214bcc0bbd8bcc0df7d0bec912970f55f69a592f38228ef4cbd99d93","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002321","is_excluded":false,"label":"Vertigo","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ffb6fc5b2515b8460e484a3d481bc1894eb3377cba999de74d3546727f078296","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:275766","disease_name":"Idiopathic pulmonary arterial hypertension","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100749","is_excluded":false,"label":"Chest pain","onset_id":null,"reference":"ORPHA:275766","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fff5f545397bc799642cd6de3c373f4be6e75f3b4c26213ec5ae25dbf7b3de2f","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:97214","disease_name":"Eisenmenger syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0005518","is_excluded":false,"label":"Increased mean corpuscular volume","onset_id":null,"reference":"ORPHA:97214","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension\">Pulmonary arterial hypertension</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the BMPR2 gene are the most common genetic cause of pulmonary arterial hypertension. This gene plays a role in regulating the number of cells in certain tissues. Researchers suggest that a mutation in this gene promotes cell division or prevents cell death, resulting in an overgrowth of cells in small arteries throughout the lungs. As a result, these arteries narrow in diameter, which increases the resistance to blood flow. Blood pressure in the pulmonary artery and the right ventricle of the heart increases to overcome the increased resistance to blood flow.</p><p>Mutations in several additional genes have also been found to cause pulmonary arterial hypertension, but they are much less common causes of the disorder than are BMPR2 gene mutations. Variations in other genes may increase the risk of developing pulmonary arterial hypertension or modify the course of the disease (usually making it more severe). Changes in as-yet-unidentified genes may also be associated with this condition.</p><p>Although pulmonary arterial hypertension often occurs on its own, it can also be part of syndromes that affect many parts of the body. For example, this condition is occasionally found in people with systemic scleroderma, systemic lupus erythematosus, critical congenital heart disease, or Down syndrome.</p><p>Researchers have also identified nongenetic factors that increase the risk of developing pulmonary arterial hypertension. These include certain drugs used as appetite suppressants and several illegal drugs, such as cocaine and methamphetamine. Pulmonary arterial hypertension is also a rare complication of certain infectious diseases, including HIV and schistosomiasis.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Pulmonary arterial hypertension?"},{"bodyHtml":"<p>Signs and symptoms of pulmonary arterial hypertension occur when increased blood pressure cannot fully overcome the elevated resistance. As a result, the flow of oxygenated blood from the lungs to the rest of the body is insufficient. Shortness of breath (dyspnea) during exertion and fainting spells are the most common symptoms of pulmonary arterial hypertension. People with this disorder may experience additional symptoms, particularly as the condition worsens. Other symptoms include dizziness, swelling (edema) of the ankles or legs, chest pain, and a rapid heart rate.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"pulmonary-arterial-hypertension","sourceDocuments":[{"name":"Pulmonary arterial hypertension","reviewed":"2016-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:34.486703+00:00","label":"Causes","pageSha256":"0f0ef3480aa2028a4f2223c34a7ec2f8759738ba64e2c99397244e39808ddea7","sourceUrl":"https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension"}],"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":"Pulmonary arterial hypertension"},"schemaVersion":1}