{"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:0007768/OMIM:145001","label":"Hyperparathyroidism 2","mondoId":"MONDO:0007768","onsetQualifier":null,"recordKeys":["09bd84a3cce2efff7aae38513e8cdf412a2aa67d89d30635773147d8a2f827a8","09d23b46212b8590a5f740204f0c36a2cb71d521fa5d1dea12744e8a5748e08b","14a520ceb90db70b29a6bc99473b3c880e8c7263d39efce1c8d19e21324e7a44","2eb542ca4df38d72969c846804952b4c3fac75f4030c4c8eaccd2cdd459617e0","33f2cb4e6c7ce48ea8c070cdcd6767fc113cd2d1d481415aa6e4cdb341de8e92","4fd30a7d3f6ad3bad128107d37bd7170b6823e139e339f443b604ffef08ec5be","7e0f3db4df556b3d7e7ed038e21d3a23a41bed1916adf8869618aa032393f3dd","97bb0c5d78db7e834fc6df61929e99d7d7a5759b4e5c3afe02d9bd3df4c85129","9b352c67197df5f99f702f74edc442c112651c90fcc91e9079f11d21e7ea35d3","be9a395254a616a464d02dbb2af3ece586d2ac2ed323516b8e026c0dc36f2c8c","e589070268420aa682de9d721bb4c390b7041317333870e71d1fdb1da5bba660","f40ed87bd154275cf727c9e42abca56b37ab48a06be8f518ea16c0b547d30c27","fb4ae59128f6c58fb521afb1cf6716e33dea3055f9c828f0fa21bc65ed30470b","ffd148820d84f3a6d12ad938ff79c3a5414995d8cea59acf0b7ef11b3fc9bde2"],"recordQualifiers":{},"scopeLabel":"OMIM:145001","sourceIds":["OMIM:145001"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0007768/ORPHA:99880","label":"Hyperparathyroidism-jaw tumor syndrome","mondoId":"MONDO:0007768","onsetQualifier":null,"recordKeys":["00f37780404df9954306e113dd1f9d03a998845d55c6b5496a08924bbdbb62c5","018f5a6794d7e5de4266b5a52c892e0fb44fed111b7e4a4f70a542a4cc76e80e","09190fe95749f72a4edb97f79bf4047be406ba80b02dc7f073607c0ba090de7f","09afe34038fbfab653d91d0a389c0337da40a99d3648cf9b8954fd8b41facf08","1aa8271386b8c99cc12800cddd0dbf86fc43c3851cc02fbd2729bf16a5ba3ec0","1b2bd8b302a4a6d5e1b6b691d65ab982a7ae9dbe7c6d1597ef9aae26992a14f4","2d8191ac02d04932ae9855600a0f02ab2d04dd3a8bfe3cf9d80c6aec15206852","3ab0efb8db2f4dea43b6d9e034686b297890430eee878f6eb655d5637d307ea1","3e98524d8962daf97115dc3573ad1956154a109db7f448644040ba60132b8e38","48f4affadcafa48ee50b0eeb11e6c107fd52e77d3e4c4c9b5fc3354881d771db","4c935123e0df50f2cf168543c75f8db57099e6caf5bb0800851f4dc27242f061","50e21519ed57e4b3d8cde2f369c78141ab30bebcc00fc80b7c7bdf8618121988","580ce416ea828662296f1a444cf417dfe267db17c22fe36697a105dac2408f46","63b4167609a7eaca4c31f4a3962ce4a254b3c2e0ab1f9c3dbddb9427390ca8be","6750c6b183434c3d63e190aaaeeea271f519c1e3fc901970b528581d425df3d2","6ea4b05f15b7c573916c70e861d19eba03bb06a5467aab1d0e0ca8065d02fa0d","82aa64b8124f650665dd0efd3e9991100c0d8f3eda247292674d18a5dd3c0e9e","8412b93fef0bafe802f01771ffdbaf6812d6959aebf8d3af9d8208dc5a3f6f71","930f77a02f0ca89ca774184330a5e1bf6d4044ff07c68c71c6d2fd4aa58e387b","94d378512da817269eedf7753fbf017229d6d9a2f62648195c585014102a83f5","9a8a6c7cc8af1e6c79e28b03605b5ba06dc6901f5c03cd805348ca55c3ac6a19","9c7e0765c8282a595327a3d61af4879614aefc4a9c42437cfb02fbb36956bdb3","b8370cc65237742d0965ac440a4d61eb75c2ec0484e62c2e0c08061b61db70c3","bc57fdd06d03fc5e9835dd4bc76b7501669de103de6b78535db0d1ee58f7a9d1","c1358a17bba2431adf0d750d48655fa2fc308c8cbd5f3334f83ac400c647eeff","d110a7b4c27835b5639bb4df0e020f8f33a992b17290f120130d042c41dbb4be","d419081554a4e5c0092d2c7736309f551c8314bc28fbceabdfc6c6e0af3f5a62","de16fc2647a015817c5d22db5b1e8f95512efb1bbd26708cb5cc34f4d319c534","de6b9fefeb8f8ad3180f840247359051fa8c2d8fb741649ea43d1d7bdc48b9e7","e1848bf271be68bcb04decd199e9072517b3510cbd769b5de4f7ade891fb42c1","e91d97e3f3aa59865671e741f5c4ddc86dd4e104b76830f12c1bf2958ddbb73d","ec0e93c0318e9dbb18c8918f8be08e3d11a3d2e7a2f83e2faef3e9cb961d23ba","ed0efdc01f804bb7defe544ff9bfbbb93a1d47c4782eaa555e34c4bceec10576","f22d9ff3f348141de069f3621e63dd5dfbab0c3653c8fac3855ccf2e6035f246"],"recordQualifiers":{},"scopeLabel":"ORPHA:99880","sourceIds":["ORPHA:99880"],"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:0007768/OMIM:145001","MONDO:0007768/ORPHA:99880"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":48,"sourceGroups":{"omim":14,"orphanet":34,"published":0}},"features":[{"hpoId":"HP:0011766","label":"Abnormal parathyroid morphology","primary":false},{"hpoId":"HP:0000234","label":"Abnormality of the head","primary":false},{"hpoId":"HP:0002653","label":"Bone pain","primary":false},{"hpoId":"HP:0000934","label":"Chondrocalcinosis","primary":false},{"hpoId":"HP:0002019","label":"Constipation","primary":false},{"hpoId":"HP:0002015","label":"Dysphagia","primary":false},{"hpoId":"HP:0003165","label":"Elevated circulating parathyroid hormone level","primary":false},{"hpoId":"HP:0002574","label":"Episodic abdominal pain","primary":false},{"hpoId":"HP:0012378","label":"Fatigue","primary":false},{"hpoId":"HP:0010614","label":"Fibroma","primary":false},{"hpoId":"HP:0010566","label":"Hamartoma","primary":false},{"hpoId":"HP:0002315","label":"Headache","primary":false},{"hpoId":"HP:0006781","label":"Hurthle cell thyroid adenoma","primary":false},{"hpoId":"HP:0003072","label":"Hypercalcemia","primary":false},{"hpoId":"HP:0002150","label":"Hypercalciuria","primary":false},{"hpoId":"HP:0000843","label":"Hyperparathyroidism","primary":false},{"hpoId":"HP:0002148","label":"Hypophosphatemia","primary":false},{"hpoId":"HP:0000787","label":"Kidney stone","primary":false},{"hpoId":"HP:0012032","label":"Lipoma","primary":false},{"hpoId":"HP:0200025","label":"Mandibular pain","primary":false},{"hpoId":"HP:0001324","label":"Muscle weakness","primary":false},{"hpoId":"HP:0002017","label":"Nausea and vomiting","primary":false},{"hpoId":"HP:0002667","label":"Nephroblastoma","primary":false},{"hpoId":"HP:0000121","label":"Nephrocalcinosis","primary":false},{"hpoId":"HP:0000939","label":"Osteoporosis","primary":false},{"hpoId":"HP:0006725","label":"Pancreatic adenocarcinoma","primary":false},{"hpoId":"HP:0001733","label":"Pancreatitis","primary":false},{"hpoId":"HP:0006766","label":"Papillary renal cell carcinoma","primary":false},{"hpoId":"HP:0002897","label":"Parathyroid adenoma","primary":false},{"hpoId":"HP:0006780","label":"Parathyroid carcinoma","primary":false},{"hpoId":"HP:0004398","label":"Peptic ulcer","primary":false},{"hpoId":"HP:0000113","label":"Polycystic kidney dysplasia","primary":false},{"hpoId":"HP:0001959","label":"Polydipsia","primary":false},{"hpoId":"HP:0008200","label":"Primary hyperparathyroidism","primary":false},{"hpoId":"HP:0100027","label":"Recurrent pancreatitis","primary":false},{"hpoId":"HP:0006735","label":"Renal cortical adenoma","primary":false},{"hpoId":"HP:0000107","label":"Renal cyst","primary":false},{"hpoId":"HP:0008696","label":"Renal hamartoma","primary":false},{"hpoId":"HP:0000083","label":"Renal insufficiency","primary":false},{"hpoId":"HP:0012232","label":"Shortened QT interval","primary":false},{"hpoId":"HP:0010788","label":"Testicular neoplasm","primary":false},{"hpoId":"HP:0002890","label":"Thyroid carcinoma","primary":false},{"hpoId":"HP:0000131","label":"Uterine leiomyoma","primary":false}],"ledeHtml":"Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body&#x27;s use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. About 95 percent of people with hyperparathyroidism-jaw tumor syndrome will develop hyperparathyroidism during their lifetime.","mondoId":"MONDO:0007768","records":[{"frequencyKind":"range","key":"00f37780404df9954306e113dd1f9d03a998845d55c6b5496a08924bbdbb62c5","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002667","is_excluded":false,"label":"Nephroblastoma","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"018f5a6794d7e5de4266b5a52c892e0fb44fed111b7e4a4f70a542a4cc76e80e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000121","is_excluded":false,"label":"Nephrocalcinosis","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"09190fe95749f72a4edb97f79bf4047be406ba80b02dc7f073607c0ba090de7f","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008696","is_excluded":false,"label":"Renal hamartoma","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"09afe34038fbfab653d91d0a389c0337da40a99d3648cf9b8954fd8b41facf08","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0010788","is_excluded":false,"label":"Testicular neoplasm","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"09bd84a3cce2efff7aae38513e8cdf412a2aa67d89d30635773147d8a2f827a8","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:145001","disease_name":"Hyperparathyroidism 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002667","is_excluded":false,"label":"Nephroblastoma","onset_id":null,"reference":"OMIM:145001","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"09d23b46212b8590a5f740204f0c36a2cb71d521fa5d1dea12744e8a5748e08b","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:145001","disease_name":"Hyperparathyroidism 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0010566","is_excluded":false,"label":"Hamartoma","onset_id":null,"reference":"OMIM:145001","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"14a520ceb90db70b29a6bc99473b3c880e8c7263d39efce1c8d19e21324e7a44","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:145001","disease_name":"Hyperparathyroidism 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006780","is_excluded":false,"label":"Parathyroid carcinoma","onset_id":null,"reference":"OMIM:145001","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1aa8271386b8c99cc12800cddd0dbf86fc43c3851cc02fbd2729bf16a5ba3ec0","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040280","hpo_id":"HP:0002897","is_excluded":false,"label":"Parathyroid adenoma","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1b2bd8b302a4a6d5e1b6b691d65ab982a7ae9dbe7c6d1597ef9aae26992a14f4","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011766","is_excluded":false,"label":"Abnormal parathyroid morphology","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2d8191ac02d04932ae9855600a0f02ab2d04dd3a8bfe3cf9d80c6aec15206852","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040280","hpo_id":"HP:0003072","is_excluded":false,"label":"Hypercalcemia","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2eb542ca4df38d72969c846804952b4c3fac75f4030c4c8eaccd2cdd459617e0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:145001","disease_name":"Hyperparathyroidism 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000234","is_excluded":false,"label":"Abnormality of the head","onset_id":null,"reference":"OMIM:145001","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"33f2cb4e6c7ce48ea8c070cdcd6767fc113cd2d1d481415aa6e4cdb341de8e92","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:145001","disease_name":"Hyperparathyroidism 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006766","is_excluded":false,"label":"Papillary renal cell carcinoma","onset_id":null,"reference":"OMIM:145001","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3ab0efb8db2f4dea43b6d9e034686b297890430eee878f6eb655d5637d307ea1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001959","is_excluded":false,"label":"Polydipsia","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3e98524d8962daf97115dc3573ad1956154a109db7f448644040ba60132b8e38","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000107","is_excluded":false,"label":"Renal cyst","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"48f4affadcafa48ee50b0eeb11e6c107fd52e77d3e4c4c9b5fc3354881d771db","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0012032","is_excluded":false,"label":"Lipoma","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4c935123e0df50f2cf168543c75f8db57099e6caf5bb0800851f4dc27242f061","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002315","is_excluded":false,"label":"Headache","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4fd30a7d3f6ad3bad128107d37bd7170b6823e139e339f443b604ffef08ec5be","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:145001","disease_name":"Hyperparathyroidism 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0100027","is_excluded":false,"label":"Recurrent pancreatitis","onset_id":null,"reference":"OMIM:145001","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"50e21519ed57e4b3d8cde2f369c78141ab30bebcc00fc80b7c7bdf8618121988","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002148","is_excluded":false,"label":"Hypophosphatemia","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"580ce416ea828662296f1a444cf417dfe267db17c22fe36697a105dac2408f46","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004398","is_excluded":false,"label":"Peptic ulcer","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"63b4167609a7eaca4c31f4a3962ce4a254b3c2e0ab1f9c3dbddb9427390ca8be","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040280","hpo_id":"HP:0008200","is_excluded":false,"label":"Primary hyperparathyroidism","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6750c6b183434c3d63e190aaaeeea271f519c1e3fc901970b528581d425df3d2","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002574","is_excluded":false,"label":"Episodic abdominal pain","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6ea4b05f15b7c573916c70e861d19eba03bb06a5467aab1d0e0ca8065d02fa0d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001324","is_excluded":false,"label":"Muscle weakness","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7e0f3db4df556b3d7e7ed038e21d3a23a41bed1916adf8869618aa032393f3dd","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:145001","disease_name":"Hyperparathyroidism 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000787","is_excluded":false,"label":"Kidney stone","onset_id":null,"reference":"OMIM:145001","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"82aa64b8124f650665dd0efd3e9991100c0d8f3eda247292674d18a5dd3c0e9e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8412b93fef0bafe802f01771ffdbaf6812d6959aebf8d3af9d8208dc5a3f6f71","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001733","is_excluded":false,"label":"Pancreatitis","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"930f77a02f0ca89ca774184330a5e1bf6d4044ff07c68c71c6d2fd4aa58e387b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002653","is_excluded":false,"label":"Bone pain","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"94d378512da817269eedf7753fbf017229d6d9a2f62648195c585014102a83f5","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0010614","is_excluded":false,"label":"Fibroma","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"97bb0c5d78db7e834fc6df61929e99d7d7a5759b4e5c3afe02d9bd3df4c85129","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:145001","disease_name":"Hyperparathyroidism 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002897","is_excluded":false,"label":"Parathyroid adenoma","onset_id":null,"reference":"OMIM:145001","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9a8a6c7cc8af1e6c79e28b03605b5ba06dc6901f5c03cd805348ca55c3ac6a19","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0200025","is_excluded":false,"label":"Mandibular pain","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9b352c67197df5f99f702f74edc442c112651c90fcc91e9079f11d21e7ea35d3","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:145001","disease_name":"Hyperparathyroidism 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006735","is_excluded":false,"label":"Renal cortical adenoma","onset_id":null,"reference":"OMIM:145001","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9c7e0765c8282a595327a3d61af4879614aefc4a9c42437cfb02fbb36956bdb3","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002150","is_excluded":false,"label":"Hypercalciuria","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b8370cc65237742d0965ac440a4d61eb75c2ec0484e62c2e0c08061b61db70c3","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012378","is_excluded":false,"label":"Fatigue","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bc57fdd06d03fc5e9835dd4bc76b7501669de103de6b78535db0d1ee58f7a9d1","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000787","is_excluded":false,"label":"Kidney stone","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"be9a395254a616a464d02dbb2af3ece586d2ac2ed323516b8e026c0dc36f2c8c","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:145001","disease_name":"Hyperparathyroidism 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000843","is_excluded":false,"label":"Hyperparathyroidism","onset_id":null,"reference":"OMIM:145001","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c1358a17bba2431adf0d750d48655fa2fc308c8cbd5f3334f83ac400c647eeff","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002017","is_excluded":false,"label":"Nausea and vomiting","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d110a7b4c27835b5639bb4df0e020f8f33a992b17290f120130d042c41dbb4be","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000939","is_excluded":false,"label":"Osteoporosis","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d419081554a4e5c0092d2c7736309f551c8314bc28fbceabdfc6c6e0af3f5a62","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003165","is_excluded":false,"label":"Elevated circulating parathyroid hormone level","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"de16fc2647a015817c5d22db5b1e8f95512efb1bbd26708cb5cc34f4d319c534","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002019","is_excluded":false,"label":"Constipation","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"de6b9fefeb8f8ad3180f840247359051fa8c2d8fb741649ea43d1d7bdc48b9e7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000934","is_excluded":false,"label":"Chondrocalcinosis","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e1848bf271be68bcb04decd199e9072517b3510cbd769b5de4f7ade891fb42c1","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012232","is_excluded":false,"label":"Shortened QT interval","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e589070268420aa682de9d721bb4c390b7041317333870e71d1fdb1da5bba660","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:145001","disease_name":"Hyperparathyroidism 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006725","is_excluded":false,"label":"Pancreatic adenocarcinoma","onset_id":null,"reference":"OMIM:145001","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e91d97e3f3aa59865671e741f5c4ddc86dd4e104b76830f12c1bf2958ddbb73d","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000083","is_excluded":false,"label":"Renal insufficiency","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ec0e93c0318e9dbb18c8918f8be08e3d11a3d2e7a2f83e2faef3e9cb961d23ba","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0006725","is_excluded":false,"label":"Pancreatic adenocarcinoma","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ed0efdc01f804bb7defe544ff9bfbbb93a1d47c4782eaa555e34c4bceec10576","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002890","is_excluded":false,"label":"Thyroid carcinoma","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f22d9ff3f348141de069f3621e63dd5dfbab0c3653c8fac3855ccf2e6035f246","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:99880","disease_name":"Hyperparathyroidism-jaw tumor syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000131","is_excluded":false,"label":"Uterine leiomyoma","onset_id":null,"reference":"ORPHA:99880","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f40ed87bd154275cf727c9e42abca56b37ab48a06be8f518ea16c0b547d30c27","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:145001","disease_name":"Hyperparathyroidism 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006781","is_excluded":false,"label":"Hurthle cell thyroid adenoma","onset_id":null,"reference":"OMIM:145001","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fb4ae59128f6c58fb521afb1cf6716e33dea3055f9c828f0fa21bc65ed30470b","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:145001","disease_name":"Hyperparathyroidism 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003072","is_excluded":false,"label":"Hypercalcemia","onset_id":null,"reference":"OMIM:145001","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ffd148820d84f3a6d12ad938ff79c3a5414995d8cea59acf0b7ef11b3fc9bde2","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:145001","disease_name":"Hyperparathyroidism 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000113","is_excluded":false,"label":"Polycystic kidney dysplasia","onset_id":null,"reference":"OMIM:145001","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/hyperparathyroidism-jaw-tumor-syndrome\">Hyperparathyroidism-jaw tumor syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the CDC73 gene cause hyperparathyroidism-jaw tumor syndrome. The CDC73 gene provides instructions for making a protein called parafibromin. This protein is found throughout the body and is likely involved in gene transcription, which is the first step in protein production. Parafibromin is also thought to play a role in cell growth and division (proliferation). It can either promote or inhibit cell proliferation depending on signals within the cell.</p><p>CDC73 gene variants cause hyperparathyroidism-jaw tumor syndrome by reducing the amount of functional parafibromin that is produced. Most of these variants cause the cell to produce a parafibromin protein that is abnormally short and does not function well. The uncontrolled cell proliferation that occurs without functional parafibromin can lead to the formation tumors. It is unknown why only certain tissues seem to be affected by changes in parafibromin.</p><p>Some people with hyperparathyroidism-jaw tumor syndrome do not have any of the variants in the CDC73 gene that are known to cause this condition. The cause of the condition in these individuals is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/hyperparathyroidism-jaw-tumor-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Hyperparathyroidism-jaw tumor syndrome?"},{"bodyHtml":"<p>In people with hyperparathyroidism-jaw tumor syndrome, hyperparathyroidism is caused by tumors that form in the parathyroid glands. Typically, only one of the four parathyroid glands is affected, but in some people, tumors are found in more than one gland. The tumors are usually a noncancerous (benign) type of tumor called an adenoma. Approximately 15 percent of people with hyperparathyroidism-jaw tumor syndrome develop a cancerous tumor called parathyroid carcinoma.</p><p>People with hyperparathyroidism-jaw tumor syndrome may also have a type of benign tumor called a fibroma in the jaw. Even though jaw tumors are specified in the name of this condition, it is estimated that only 11 to 40 percent of affected individuals have this symptom.</p><p>Other tumors, both benign and cancerous, are often seen in people with hyperparathyroidism-jaw tumor syndrome. For example, tumors of the uterus occur in up to 50 percent of people with this condition. Uterine tumors are typically benign, but they can cause heavy menstrual bleeding or other symptoms. The kidneys are affected in about 20 percent of people with hyperparathyroidism-jaw tumor syndrome. Benign kidney cysts are the most common kidney feature, but a rare cancerous tumor called Wilms tumor and other types of kidney tumor have also been found.</p><p>Regular medical screening may assist in the early detection of the features of hyperparathyroidism-jaw tumor syndrome.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/hyperparathyroidism-jaw-tumor-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"hyperparathyroidism-jaw-tumor-syndrome","sourceDocuments":[{"name":"Hyperparathyroidism-jaw tumor syndrome","reviewed":"2024-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:19.813223+00:00","label":"Causes","pageSha256":"bb67f0cc8f48f5c0ae26d3f13f78ff1216d4f5ed865921bb8e3cab2bce65eec6","sourceUrl":"https://medlineplus.gov/genetics/condition/hyperparathyroidism-jaw-tumor-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/hyperparathyroidism-jaw-tumor-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Hyperparathyroidism-jaw tumor syndrome"},"schemaVersion":1}