{"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:0009419/OMIM:241080","label":"Woodhouse-Sakati syndrome","mondoId":"MONDO:0009419","onsetQualifier":null,"recordKeys":["0718c6acb185181d7830f2175cc533010e821d2e26c9581ef7797706c857b23c","076b3f865dea5dd81730d6c5513fedb5aa715333614aacd4aa2bfeaccf1e9a37","0b2244792b15143f4f7fa508cc409033a6742ded430b7aa94e4c104e5423140d","0bea70b21f92824ca82bc3bbb3d0d3c0ee86a3632e09e08ec279aacb14c5f86c","12176aec4ab1c5e0f5c75f987b27a0cb0a4bcd441c1bcfecfdfa138d52abcdee","138ed79c6f8bf43a0813c2d9f2ed4819a1d8efee8c4ab01ff623d525e1886f5b","1495b7e21d467ad6c706c571b74dffbc2db86cffb2ce35cd0db259c98265ea7e","1ccd066ce8a4e2b489bf7aa98a575215f058642f76121620442bea381c33d8ca","1df3832c4a2c6954393f5e5264f8fd9226f05e9fc040b67afe5c9930ab369830","1e55719cd0d0e1ee5fdc318a414751174f4e1c3a97c339a29880bee6f8ec4fa6","27492d6103ce1347f28830f54e72ddef520712969602a9166aaf6ed0738fd36c","293b0b0fefc771b06b1eec1f5e84be7e93f8840cd0203604389ab0d04269f47a","38d90fbb862d2b3fe6169933e7845519786372fed258730c2b62326e41bee509","3eaff10c2582d6570e346b0c9355b715581301630efcdbdc756c1faf839af9ae","58fe31db59bf97c8a0f2fa4e62e144997982659cfa4b3a97b729c63de4d826a6","63a989ec9f3aa884ff13dc5f4c4a9cfafb87003467a82100c17e3928d3bdc0e0","6a27c5cf59f90e296710c7932c314f3a3cf60fcb874e333ab569210e7cea1160","6b5486b9cab67eda2e9590a2274bbc0d5cb7626704c8f6a7b7c9bc38e243918d","74cb80f6c810d8acd800e2a2a667a72bc9927ea87a993304f31aaaa0b4d46903","79e4f946745fa16ead3045581de7d02668c851fca3ab43d577460908dba42358","7e2fab112fbaf543bded8ce024b033215df6224fc82d34063ba3448f831a339f","975dcdc17857813099423082219d3ba364328b87399ebc23f37bd1e03a1199d1","9b531dc3639379df3150209ab952118bdf6f95e4a61e23be13e0db23460719e1","a2a07b9d4c8bfdf8092021b49a0ec200acf34450e893b35393bdb3f601d5492d","a31b77ec069183dca506a0e24f1d83bee4d052699befbe4b683038ce44860fef","a4d59184a0346e14107328755a7a3f1137ed659d74d131cb3fffde7297447dc4","b3a123a2978f3aab3947c537ad9ce50c8a753a65059c33d99c99b3ceec4a7d08","b44103622583f8af4e98e64d287a97b5d9cb9990c426a75c3eae46e9f4ab7ece","b9d2a6d2595451b2eb6a5ffed011704e766033602ce5a64979287fd6b31c9fad","bf3a781cef1836f4f6d37ae4ccd4228d349fc222ebde5b75b645bb7bec2c56dc","c510897aa795941319f9ebe477b98463ee6e65735653aa38b1d04ae5d4d8d6f3","c95f886a154ceaafc360302c8a3b6e3974c68e1b9404ef600a42e445c1645959","cd04d47744f9744ab73eb3f6634e21c22676adf544d1ff46e9f3915d6a7e949d","d18bf3ca9f4c76c577c5d42864219c6390ad53feb750ad08f195f5d8c7e0b47a","da0c1173d4fb492a2f1be46cacef96b3ed31bd848f686f024ce4e3bea9cbb70e","e03b1c335b1ad5fae2445e84ac1917578931d5c337975f6690417a68a976fb2d","eadb7a97fc69719a10af7f4aa4deeff89659fff3931a4cc5c499d652cb27b7c2","ebc080cbcd092aa0ce6c76d54a38c1d8270d7190a670335fd1dc355dcfb3f5b0","f36254e4810b8c7f6c032aa83820e8fcc61bca658043ec0d5f961c84847286a9","fbd2e047d32f09b1e9308b3a21713f5bc85c1999dfec755087767c23f97ef771"],"recordQualifiers":{},"scopeLabel":"OMIM:241080","sourceIds":["OMIM:241080"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0009419/ORPHA:3464","label":"Woodhouse-Sakati syndrome","mondoId":"MONDO:0009419","onsetQualifier":null,"recordKeys":["290cc933af273b1f0f58e550659dc34f300319e0e1779f1e62cd253f235c4ed2","2b9aa6494667dbec882618e0b3958793468e25c3b931bbe4337f345c96c605dd","3024908879e34ff44632251aa4fb0ac83f854f01bc6326a15ade1021b32aecf7","361db4ccb2229aaa8ce2411772a634546da3a753969ce0929bb48bc893db5527","40a16cc26fcf6aaa619aeffd19a3a4d4350fe9fb30ed57ea56482eec54a6c2c2","40c8c706b881a7d17617618e65dbb778fe32ad3a5543fc402ab08a233e6cce86","47ede03b1b69d24302a04b1212ad901070cb6ecf88b24d665908e24683168738","53633b76985fefb4ed3631a8b15a6d2d6041034317db5297ef44b2e14a89b967","61c2f81702b8e5c81cbda587ab2235cee38bcc39bf27ec07e71503ce63f87c59","79603924ebe122ea66547ae702b56a2fe45be05ea39b79130241ae48929c95c7","7c3a2a629e69c90e0c1d49ab8215adb67a34b81a6389d06c27a9cdb8a9969cb4","7cea593e1f6693219ec3994f9739918c654c54c043d459c5506685429de0c64b","7fa89644a304ae0c0d49056cb5564598358547d228c06d5a1c382d5e41f0b3fc","83b58275e021e4ae3841625dea813faccf52f9d9a4deb0c6783519faed367ee7","8c69d0267811fbdbbb11aa95f7a5ece79513bd9d3f4b7fdf4e160fa33e72e65e","99549873dbbd2c2de0728bc0fec5eee473657f2a26a17b3639832746368edf91","a4c5b4c97f5d25e6b9538f3dc78651d9a81d09172743759441c438306d976b7c","a87c88f261f3d7cc33ec4dba176c8ddd0316d6cd655b1c8958b2cd5e12bab51e","af6ffb79bc58b84c10ef2769a875664684c5ef22392f9cf5e9c36538a88b78f1","b09f9f3151043c4be1ef5b07589bc2096d71ecbd7fa7b371054e012b241b1284","b11a27cf944fe7dcbd620a338699370383f0086bceeef5df8540eabdef9ec242","bbb6319a279800a5d8a8ae57f76d172b274ee3a92e6ccd343ace8abad9c920eb","bd8b8d507bb9466f71c1d228258e6ab462014725ed10039accfca741a8d2f47a","c8ab35a7bc870cac8d1c23941547e7effcc5c16ec1fc76bb444cfa6b2a2add80","c91dded0a23142506e45fd43c4bb9aacf06b91bc58e197f52d1d8fbcca56c56a","cff2972db231cbeb91458278d691d8b97dceaf9bb292d63b79021f1963029018","d538883187a03868d7c5ffb9269e50ee31b357f3807e85d7ec2d3eaf632749d8","dfce56b069321453eda22492f3af4de9fee6fbc2ecbc638020712fb92751e4ac","e44f1b0a238539c7329a108f31db891e7fcd940afc2ed4d875408f0fd1300955","e4ced80c6a759374ac6c5f8527bc70a1a839d89ba5c828a1ecfc12c745d99530","ebee1050ceac726806890ee1095258b130d87176f319e386881b2a86db646675","f03afaaf854bc847de4ced5da87a46b710ca8bd9be7341d98c7151add1268ac0","f14000e177e4ad546ea8ff56d66648bc45028d9f4295a34a102a174771b5c167","f780d22f0a2be8dc0f9dbe99e25ec6abe22b585ba6c1004905420fc603529a2e","fc6e720080e4e3d5d1d0896615df2a79680913bb562cc682386206e71ed90b02"],"recordQualifiers":{},"scopeLabel":"ORPHA:3464","sourceIds":["ORPHA:3464"],"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:0009419/OMIM:241080","MONDO:0009419/ORPHA:3464"],"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":20,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":75,"sourceGroups":{"omim":20,"orphanet":35,"published":20}},"features":[{"hpoId":"HP:0008669","label":"Abnormal spermatogenesis","primary":false},{"hpoId":"HP:0005135","label":"Abnormal T-wave","primary":false},{"hpoId":"HP:0002071","label":"Abnormality of extrapyramidal motor function","primary":false},{"hpoId":"HP:0001344","label":"Absent speech","primary":false},{"hpoId":"HP:0001596","label":"Alopecia","primary":false},{"hpoId":"HP:0000674","label":"Anodontia","primary":false},{"hpoId":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","primary":false},{"hpoId":"HP:0000027","label":"Azoospermia","primary":false},{"hpoId":"HP:0008619","label":"Bilateral sensorineural hearing impairment","primary":false},{"hpoId":"HP:0000643","label":"Blepharospasm","primary":false},{"hpoId":"HP:0001266","label":"Choreoathetosis","primary":false},{"hpoId":"HP:0030353","label":"Decreased circulating insulin-like growth factor 1 concentration","primary":false},{"hpoId":"HP:0000824","label":"Decreased response to growth hormone stimulation test","primary":false},{"hpoId":"HP:0008214","label":"Decreased serum estradiol","primary":false},{"hpoId":"HP:0040171","label":"Decreased serum testosterone concentration","primary":false},{"hpoId":"HP:0008734","label":"Decreased testicular size","primary":false},{"hpoId":"HP:0000823","label":"Delayed puberty","primary":false},{"hpoId":"HP:0002750","label":"Delayed skeletal maturation","primary":false},{"hpoId":"HP:0000819","label":"Diabetes mellitus","primary":false},{"hpoId":"HP:0001260","label":"Dysarthria","primary":false},{"hpoId":"HP:0001332","label":"Dystonia","primary":false},{"hpoId":"HP:0002925","label":"Elevated circulating thyroid-stimulating hormone concentration","primary":false},{"hpoId":"HP:0002213","label":"Fine hair","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0000738","label":"Hallucinations","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0000815","label":"Hypergonadotropic hypogonadism","primary":false},{"hpoId":"HP:0000842","label":"Hyperinsulinemia","primary":false},{"hpoId":"HP:0003077","label":"Hyperlipidemia","primary":false},{"hpoId":"HP:0000135","label":"Hypogonadism","primary":false},{"hpoId":"HP:0000044","label":"Hypogonadotropic hypogonadism","primary":false},{"hpoId":"HP:0008697","label":"Hypoplasia of the fallopian tube","primary":false},{"hpoId":"HP:0000013","label":"Hypoplasia of the uterus","primary":false},{"hpoId":"HP:0000821","label":"Hypothyroidism","primary":false},{"hpoId":"HP:0000789","label":"Infertility","primary":false},{"hpoId":"HP:0000831","label":"Insulin-resistant diabetes mellitus","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001268","label":"Decline in thinking abilities","primary":false},{"hpoId":"HP:0000054","label":"Micropenis","primary":false},{"hpoId":"HP:0001256","label":"Mild intellectual disability","primary":false},{"hpoId":"HP:0001336","label":"Myoclonus","primary":false},{"hpoId":"HP:0000938","label":"Osteopenia","primary":false},{"hpoId":"HP:0009830","label":"Peripheral neuropathy","primary":false},{"hpoId":"HP:0008209","label":"Premature ovarian insufficiency","primary":false},{"hpoId":"HP:0000786","label":"Primary amenorrhea","primary":false},{"hpoId":"HP:0000426","label":"Prominent nasal bridge","primary":false},{"hpoId":"HP:0000448","label":"Prominent nose","primary":false},{"hpoId":"HP:0000411","label":"Protruding ear","primary":false},{"hpoId":"HP:0000709","label":"Psychosis","primary":false},{"hpoId":"HP:0040189","label":"Scaling skin","primary":false},{"hpoId":"HP:0000407","label":"Sensorineural hearing loss","primary":false},{"hpoId":"HP:0008070","label":"Sparse hair","primary":false},{"hpoId":"HP:0010464","label":"Streak ovary","primary":false},{"hpoId":"HP:0000325","label":"Triangular face","primary":false},{"hpoId":"HP:0100651","label":"Type I diabetes mellitus","primary":false}],"ledeHtml":"Woodhouse-Sakati syndrome is a disorder that primarily affects the body&#x27;s network of hormone-producing glands (the endocrine system) and the nervous system. The signs and symptoms of this condition vary widely among affected individuals, even within the same family.","mondoId":"MONDO:0009419","records":[{"frequencyKind":"reported","key":"0718c6acb185181d7830f2175cc533010e821d2e26c9581ef7797706c857b23c","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0040171","is_excluded":false,"label":"Decreased serum testosterone concentration","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"076b3f865dea5dd81730d6c5513fedb5aa715333614aacd4aa2bfeaccf1e9a37","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0005135","is_excluded":false,"label":"Abnormal T-wave","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0b2244792b15143f4f7fa508cc409033a6742ded430b7aa94e4c104e5423140d","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"4/7","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0bea70b21f92824ca82bc3bbb3d0d3c0ee86a3632e09e08ec279aacb14c5f86c","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000054","is_excluded":false,"label":"Micropenis","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"12176aec4ab1c5e0f5c75f987b27a0cb0a4bcd441c1bcfecfdfa138d52abcdee","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0008070","is_excluded":false,"label":"Sparse hair","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"138ed79c6f8bf43a0813c2d9f2ed4819a1d8efee8c4ab01ff623d525e1886f5b","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000789","is_excluded":false,"label":"Infertility","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1495b7e21d467ad6c706c571b74dffbc2db86cffb2ce35cd0db259c98265ea7e","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000411","is_excluded":false,"label":"Protruding ear","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1ccd066ce8a4e2b489bf7aa98a575215f058642f76121620442bea381c33d8ca","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0000819","is_excluded":false,"label":"Diabetes mellitus","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1df3832c4a2c6954393f5e5264f8fd9226f05e9fc040b67afe5c9930ab369830","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001344","is_excluded":false,"label":"Absent speech","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1e55719cd0d0e1ee5fdc318a414751174f4e1c3a97c339a29880bee6f8ec4fa6","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002925","is_excluded":false,"label":"Elevated circulating thyroid-stimulating hormone concentration","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"27492d6103ce1347f28830f54e72ddef520712969602a9166aaf6ed0738fd36c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000674","is_excluded":false,"label":"Anodontia","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"290cc933af273b1f0f58e550659dc34f300319e0e1779f1e62cd253f235c4ed2","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008697","is_excluded":false,"label":"Hypoplasia of the fallopian tube","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"293b0b0fefc771b06b1eec1f5e84be7e93f8840cd0203604389ab0d04269f47a","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0008209","is_excluded":false,"label":"Premature ovarian insufficiency","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2b9aa6494667dbec882618e0b3958793468e25c3b931bbe4337f345c96c605dd","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008669","is_excluded":false,"label":"Abnormal spermatogenesis","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3024908879e34ff44632251aa4fb0ac83f854f01bc6326a15ade1021b32aecf7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000709","is_excluded":false,"label":"Psychosis","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"361db4ccb2229aaa8ce2411772a634546da3a753969ce0929bb48bc893db5527","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008214","is_excluded":false,"label":"Decreased serum estradiol","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"38d90fbb862d2b3fe6169933e7845519786372fed258730c2b62326e41bee509","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0000821","is_excluded":false,"label":"Hypothyroidism","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3eaff10c2582d6570e346b0c9355b715581301630efcdbdc756c1faf839af9ae","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0009830","is_excluded":false,"label":"Peripheral neuropathy","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"40a16cc26fcf6aaa619aeffd19a3a4d4350fe9fb30ed57ea56482eec54a6c2c2","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000013","is_excluded":false,"label":"Hypoplasia of the uterus","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"40c8c706b881a7d17617618e65dbb778fe32ad3a5543fc402ab08a233e6cce86","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0040189","is_excluded":false,"label":"Scaling skin","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"47ede03b1b69d24302a04b1212ad901070cb6ecf88b24d665908e24683168738","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000738","is_excluded":false,"label":"Hallucinations","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"53633b76985fefb4ed3631a8b15a6d2d6041034317db5297ef44b2e14a89b967","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000411","is_excluded":false,"label":"Protruding ear","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"58fe31db59bf97c8a0f2fa4e62e144997982659cfa4b3a97b729c63de4d826a6","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008734","is_excluded":false,"label":"Decreased testicular size","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"61c2f81702b8e5c81cbda587ab2235cee38bcc39bf27ec07e71503ce63f87c59","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008734","is_excluded":false,"label":"Decreased testicular size","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"63a989ec9f3aa884ff13dc5f4c4a9cfafb87003467a82100c17e3928d3bdc0e0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000738","is_excluded":false,"label":"Hallucinations","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"6a27c5cf59f90e296710c7932c314f3a3cf60fcb874e333ab569210e7cea1160","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003077","is_excluded":false,"label":"Hyperlipidemia","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"6b5486b9cab67eda2e9590a2274bbc0d5cb7626704c8f6a7b7c9bc38e243918d","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"6/6","hpo_id":"HP:0000135","is_excluded":false,"label":"Hypogonadism","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"74cb80f6c810d8acd800e2a2a667a72bc9927ea87a993304f31aaaa0b4d46903","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002213","is_excluded":false,"label":"Fine hair","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"79603924ebe122ea66547ae702b56a2fe45be05ea39b79130241ae48929c95c7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001256","is_excluded":false,"label":"Mild intellectual disability","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"79e4f946745fa16ead3045581de7d02668c851fca3ab43d577460908dba42358","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000027","is_excluded":false,"label":"Azoospermia","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7c3a2a629e69c90e0c1d49ab8215adb67a34b81a6389d06c27a9cdb8a9969cb4","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7cea593e1f6693219ec3994f9739918c654c54c043d459c5506685429de0c64b","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100840","is_excluded":false,"label":"Aplasia/Hypoplasia of the eyebrow","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7e2fab112fbaf543bded8ce024b033215df6224fc82d34063ba3448f831a339f","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0030353","is_excluded":false,"label":"Decreased circulating insulin-like growth factor 1 concentration","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7fa89644a304ae0c0d49056cb5564598358547d228c06d5a1c382d5e41f0b3fc","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000054","is_excluded":false,"label":"Micropenis","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"83b58275e021e4ae3841625dea813faccf52f9d9a4deb0c6783519faed367ee7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000938","is_excluded":false,"label":"Osteopenia","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8c69d0267811fbdbbb11aa95f7a5ece79513bd9d3f4b7fdf4e160fa33e72e65e","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0040171","is_excluded":false,"label":"Decreased serum testosterone concentration","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"975dcdc17857813099423082219d3ba364328b87399ebc23f37bd1e03a1199d1","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000044","is_excluded":false,"label":"Hypogonadotropic hypogonadism","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"99549873dbbd2c2de0728bc0fec5eee473657f2a26a17b3639832746368edf91","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003077","is_excluded":false,"label":"Hyperlipidemia","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9b531dc3639379df3150209ab952118bdf6f95e4a61e23be13e0db23460719e1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a2a07b9d4c8bfdf8092021b49a0ec200acf34450e893b35393bdb3f601d5492d","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000013","is_excluded":false,"label":"Hypoplasia of the uterus","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"a31b77ec069183dca506a0e24f1d83bee4d052699befbe4b683038ce44860fef","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"5/7","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a4c5b4c97f5d25e6b9538f3dc78651d9a81d09172743759441c438306d976b7c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002750","is_excluded":false,"label":"Delayed skeletal maturation","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a4d59184a0346e14107328755a7a3f1137ed659d74d131cb3fffde7297447dc4","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000823","is_excluded":false,"label":"Delayed puberty","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a87c88f261f3d7cc33ec4dba176c8ddd0316d6cd655b1c8958b2cd5e12bab51e","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000821","is_excluded":false,"label":"Hypothyroidism","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"af6ffb79bc58b84c10ef2769a875664684c5ef22392f9cf5e9c36538a88b78f1","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008619","is_excluded":false,"label":"Bilateral sensorineural hearing impairment","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b09f9f3151043c4be1ef5b07589bc2096d71ecbd7fa7b371054e012b241b1284","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000135","is_excluded":false,"label":"Hypogonadism","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b11a27cf944fe7dcbd620a338699370383f0086bceeef5df8540eabdef9ec242","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001268","is_excluded":false,"label":"Mental deterioration","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b3a123a2978f3aab3947c537ad9ce50c8a753a65059c33d99c99b3ceec4a7d08","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000786","is_excluded":false,"label":"Primary amenorrhea","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b44103622583f8af4e98e64d287a97b5d9cb9990c426a75c3eae46e9f4ab7ece","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"7/7","hpo_id":"HP:0001596","is_excluded":false,"label":"Alopecia","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b9d2a6d2595451b2eb6a5ffed011704e766033602ce5a64979287fd6b31c9fad","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0001336","is_excluded":true,"label":"Myoclonus","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"bbb6319a279800a5d8a8ae57f76d172b274ee3a92e6ccd343ace8abad9c920eb","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005135","is_excluded":false,"label":"Abnormal T-wave","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bd8b8d507bb9466f71c1d228258e6ab462014725ed10039accfca741a8d2f47a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000325","is_excluded":false,"label":"Triangular face","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bf3a781cef1836f4f6d37ae4ccd4228d349fc222ebde5b75b645bb7bec2c56dc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000325","is_excluded":false,"label":"Triangular face","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c510897aa795941319f9ebe477b98463ee6e65735653aa38b1d04ae5d4d8d6f3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001266","is_excluded":false,"label":"Choreoathetosis","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c8ab35a7bc870cac8d1c23941547e7effcc5c16ec1fc76bb444cfa6b2a2add80","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000823","is_excluded":false,"label":"Delayed puberty","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c91dded0a23142506e45fd43c4bb9aacf06b91bc58e197f52d1d8fbcca56c56a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000674","is_excluded":false,"label":"Anodontia","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c95f886a154ceaafc360302c8a3b6e3974c68e1b9404ef600a42e445c1645959","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0100651","is_excluded":false,"label":"Type I diabetes mellitus","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"cd04d47744f9744ab73eb3f6634e21c22676adf544d1ff46e9f3915d6a7e949d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"cff2972db231cbeb91458278d691d8b97dceaf9bb292d63b79021f1963029018","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000831","is_excluded":false,"label":"Insulin-resistant diabetes mellitus","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d18bf3ca9f4c76c577c5d42864219c6390ad53feb750ad08f195f5d8c7e0b47a","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008697","is_excluded":false,"label":"Hypoplasia of the fallopian tube","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d538883187a03868d7c5ffb9269e50ee31b357f3807e85d7ec2d3eaf632749d8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"da0c1173d4fb492a2f1be46cacef96b3ed31bd848f686f024ce4e3bea9cbb70e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000709","is_excluded":false,"label":"Psychosis","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"dfce56b069321453eda22492f3af4de9fee6fbc2ecbc638020712fb92751e4ac","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001266","is_excluded":false,"label":"Choreoathetosis","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e03b1c335b1ad5fae2445e84ac1917578931d5c337975f6690417a68a976fb2d","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e44f1b0a238539c7329a108f31db891e7fcd940afc2ed4d875408f0fd1300955","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000448","is_excluded":false,"label":"Prominent nose","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e4ced80c6a759374ac6c5f8527bc70a1a839d89ba5c828a1ecfc12c745d99530","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010464","is_excluded":false,"label":"Streak ovary","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"eadb7a97fc69719a10af7f4aa4deeff89659fff3931a4cc5c499d652cb27b7c2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000426","is_excluded":false,"label":"Prominent nasal bridge","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ebc080cbcd092aa0ce6c76d54a38c1d8270d7190a670335fd1dc355dcfb3f5b0","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000815","is_excluded":false,"label":"Hypergonadotropic hypogonadism","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ebee1050ceac726806890ee1095258b130d87176f319e386881b2a86db646675","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008209","is_excluded":false,"label":"Premature ovarian insufficiency","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f03afaaf854bc847de4ced5da87a46b710ca8bd9be7341d98c7151add1268ac0","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000824","is_excluded":false,"label":"Decreased response to growth hormone stimulation test","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f14000e177e4ad546ea8ff56d66648bc45028d9f4295a34a102a174771b5c167","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000842","is_excluded":false,"label":"Hyperinsulinemia","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f36254e4810b8c7f6c032aa83820e8fcc61bca658043ec0d5f961c84847286a9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002071","is_excluded":false,"label":"Abnormality of extrapyramidal motor function","onset_id":null,"reference":"OMIM:241080","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f780d22f0a2be8dc0f9dbe99e25ec6abe22b585ba6c1004905420fc603529a2e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fbd2e047d32f09b1e9308b3a21713f5bc85c1999dfec755087767c23f97ef771","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:241080","disease_name":"Woodhouse-Sakati syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000643","is_excluded":false,"label":"Blepharospasm","onset_id":null,"reference":"PMID:20507343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fc6e720080e4e3d5d1d0896615df2a79680913bb562cc682386206e71ed90b02","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:3464","disease_name":"Woodhouse-Sakati syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001596","is_excluded":false,"label":"Alopecia","onset_id":null,"reference":"ORPHA:3464","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome\">Woodhouse-Sakati 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>Woodhouse-Sakati syndrome is caused by variants (also called mutations) in the DCAF17 gene. This gene provides instructions for making a protein whose function is unknown. The protein is found in several organs and tissues in the body, including the brain, skin, and liver.</p><p>Most of the DCAF17 gene variants that have been identified in people with Woodhouse-Sakati syndrome result in a protein that is abnormally short and breaks down quickly or whose usual function is impaired. The loss of DCAF17 protein function likely accounts for the features of Woodhouse-Sakati syndrome, although it is unclear how a shortage of this protein leads to hormone abnormalities and the other signs and symptoms. Researchers suggest that the different features of the disorder may be caused by variations in other genes called modifiers; however, these genes have not been identified.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Woodhouse-Sakati syndrome?"},{"bodyHtml":"<p>People with Woodhouse-Sakati syndrome produce abnormally low amounts of hormones that direct sexual development (hypogonadism), which typically becomes apparent during adolescence. Without hormone replacement therapy, affected individuals do not develop secondary sexual characteristics such as pubic hair, breast growth in women, or a deepening voice in men. Women with Woodhouse-Sakati syndrome do not have functional ovaries and may instead have undeveloped tissues called streak gonads. The uterus may also be small or absent. Men with this disorder have testes that produce little to no sperm. As a result, people with Woodhouse-Sakati syndrome have difficulty having biological children (a condition called infertility).</p><p>Some affected individuals have certain characteristic facial features, including a long, triangular face; widely spaced eyes (hypertelorism); and a prominent bridge of the nose. People with Woodhouse-Sakati syndrome also experience hair loss (alopecia) that begins in childhood and worsens over time. Eyelashes and eyebrows are sparse or absent, and affected men have little or no facial hair. By their mid-twenties, almost all affected individuals develop diabetes mellitus, and they may also have reduced production of thyroid hormones (hypothyroidism).</p><p>Individuals with Woodhouse-Sakati syndrome may have neurological problems. A group of movement abnormalities called dystonias are common in affected individuals, and they generally begin in adolescence or young adulthood. These movement abnormalities can include involuntary tensing of the muscles (muscle contractions) or twisting of specific body parts such as an arm or a leg. Other neurological features can include difficulty with speech (dysarthria) or swallowing (dysphagia), and mild intellectual disabilities.</p><p>Changes in the inner ears can lead to hearing loss (sensorineural hearing loss) in people with Woodhouse-Sakati syndrome. The hearing loss can range from mild to total. This loss usually occurs in adolescence.</p><p>In some affected individuals, abnormal deposits of iron in the brain have been detected with medical imaging. For this reason, Woodhouse-Sakati syndrome is sometimes classified as part of a group of disorders called neurodegeneration with brain iron accumulation (NBIA).</p><p>Some researchers classify Woodhouse-Sakati syndrome into two types, depending on the signs and symptoms. People with Woodhouse-Sakati syndrome type 1 tend to have more severe neurological problems, and those with type 2 have milder or no neurological problems.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"woodhouse-sakati-syndrome","sourceDocuments":[{"name":"Woodhouse-Sakati syndrome","reviewed":"2023-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:52.610659+00:00","label":"Causes","pageSha256":"26336a03dd65871f8775dbca47ff054571c1c0fd9ba241316c9000bc3b3cabb9","sourceUrl":"https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/woodhouse-sakati-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":"Woodhouse-Sakati syndrome"},"schemaVersion":1}