{"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:0008726/OMIM:201750","label":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","mondoId":"MONDO:0008726","onsetQualifier":null,"recordKeys":["02b98ad70c908843108764ce1c74dab1cbf21c912c70f9ce2dcda32868acb4a6","040cd1b8329c08bc5761fbb3b34ecd0d01f25247ea39041cb55ea6cdc6b26227","0431db8613434b34bbd082233e445a4a5a3b82984cc2895f71b9256ff11f335e","09fd8554b9096c91e0e02b9c56e7e655a4a8ca5f6f64744d6db7621bfe71d373","0ebecec6710cd175b3cc6059908ac6f765469af331e5a0039642c9474f8a4063","0ed900df76d35fb2b936bef353d454a90e4ab4f44fd07c2d50b606ddd69ba670","1d0fcb18a0cbd112f8c9e4bd4c8c3d07f1c9eaaa00205bf2724efe2de446a171","1da79d05027d4876e1c9a1a0d013059fc31a3caa565460a7965bda1296981457","1ea52cb3347a6881a06a662e0a116fafcd7ab43fe43cdc5f18ee8a733b66c49f","1f0823ff8d3d710c25b6d4edb804565d6e093dcd37317e39cbc91dde9f841e91","20167fc24725e6748899a18291621f997a92c141c211d3de052093a9f83f89c8","20294aad1fa7b20c6ffe212e4222ea2e79f5a1e097b20eb3d84459ec7f83fea0","2179ad1b5ec0314b4e1301d5fdb0fe110bfb09f2e1e797ce9cbbef1c1773072d","2537f546aca5eed6eb692baf1560762f5b000c74ceece745bd756538e7850520","288b3471b75bf6daab7838cc3f5a0638a50618f07c40b3a88fa33dfb29f8bf2f","34fc026f1412f013d14f537371d9d7fe14d5a89532f2cb1a10c0c825713d179c","39f3cfb611deb2623f1e8d1756de379487cfbc766c22a051a620edce53b88e03","3d4454ddd7fe7fb35da79fa62da201407560f554c0f376862d5d0a1396d7e6eb","3fc290bb50c58a709675d833e64a2ab1e65f19cb113cb1fc8df99c89ba350e51","44f9a010d6952c8cd6c425ad3b820a8fb74747f10502017b5bc830795a12748d","4524ac21088f377fc7e381bbc3096f5d3388d02c7f1d908f8b461d884832a90b","48aae1c7b6036c54201fd732cb67c2d8d133ed2f5b86c6a5f341d19e8da54e10","4d3c64bce6565f180b45e988df39034efd7551d70e656f98f4b76feadb91bea1","4d8f7e68f42f0214b8c72c9d8dc684d9270dbba17ef48224bd3197c132e2f363","5011c280efa9d74865c9b27de7f9b12dc413dd950558cfb393c0d0d564061b00","559507ba373f3b7587f450112c9681116ad95868908979fb93fe671654491506","5659c4cc686a88a43d5ed0b415b8846c643196eabe3547ff9a1af25c36fc8b4e","5f9c59685c5e5bb8dc5a704ab67d66b7109706d6b8926659ad0ba924e54dac30","607f11f452e4cd5fa691c44050f42eec52d9c3ed42fa6885f002ba2f5aa898e8","6762457df828da871c87f0e2287d63da71bd01b28cb0c5e98afc67ab4350e5c8","6969893d94b28d4cc516e060e23b33ba9a331b2d406fcc3cf445acd109658f4b","6a51d42a45cd8dac8f2ff4778166b2ac8cfdac074f21c38835d3908c189c6f09","6da67d26329c3addfc07c09193d9019efbc97e6f5310801657f100495d1248a0","6f8c3c594a77946b8047081be626146809512f2e696c853547fb2e87e69e1b5a","72e41726e4c2a61f3334140dc6b0998fc27ccb2bd65c2baaafba0eec568a3af8","735dc8b1b10139149045b6288daf3952aaa6fcc02d8a23db2f07e94fd399cfa2","76fa55460fa018f0d6e76b96d11dd5f66a5647c050a30db86b023bb821020eae","81cc27182171b9b03bbac917aaf5ade0926577c8079fefafb34877cf6e1c9792","857cf9ce87ad5348bc15727d5695be3cbc6d17c92ed057cde802135321d81e63","887371af5aeea63c144be9b558f9dae0d5d361b13c967643697340867a786a7f","8aa0e6730617b8f585e010caf9ccaffaf472b2bef8e49f574436e21e77912ea7","90c5f09b01a0bfebaf7b449ba011068272bb15f301d14761cda7ba277a0fa334","91d3f5d63494beaf6fab82791fc17baced6895823c3b097f5a4f257215c5524c","971100814c9d6ea77a31ba038e7a18488156038a9ce671248d748eb711bf6fa9","971410614d247a0540b79ab0c136725bf14b839220d8d75acdb4a99caf940b04","9a587ed2e5f845eb1471c2f4803df57a9a6506840b7f04353f80740c9eadfea6","a0da5b39d912d130f8f3a331f8e70fad48c21703dea8ad3db29469f7822d53fe","a55dfbf3927244f76072e0fa403344d82ba0c52c0fa7e84a935244de443c00da","bbf7542a66f5b06e30249cc12142ca957b98847ad7dc610b7080a1f2ad7e456f","bd4c01144024c3b5ceb8783cb4b27eb13a2b28b85574526cfec579ce795671a1","c32769fd630983396ba8e4cced3bc3f42b4f03ec4b2946aec9602f614a59c5a0","c944859ef4ad3d6fc0280e9997698c9329698106f649f2b46e55198f2d029ae2","cbe4baece4b27b619f45c0c541e366e8c64a6c250ece0aa1456ab6d6b5e94770","dccb444e5ec8f5538089b799db3c5386f7449f5b1e47e4da03c0f18225454319","ddd2dd951b9f50195d6035db90eb9fdd76c40448b8e75b1635e6da341c554f4f","deb88c436de2f54315334a2132cfe83389390da434cf31402a50b16070800e2e","df00a5c5b50f760652d72104b7a783c5d2864a4b57d1ef0b4f23ad81062f1102","e104962d928c8e16360d25ae8d53baabec8a14227e197496ce704b5ec8830e1b","e36fbdd5a141ff5e1e91f9b7647dd00c73552a61b2c608867ec7e5bd58fbcc11","e3753c7c8f68865df7290eb93893eddef00e9718c49c73ef411e0b8c42be220d","ece38f221a4c78753aa737ad1cfa2ffa1d7c5bf2b3b135edc2212f9e8416de2d","efdd1894b342a0e5606dbd9a3c23c17f6c97c8de0d09fe27cad9bdf6bd002af0","f1044d9c7db22cd654fd1b60d27cb6c35149d7d7b2f7a6be73cfa9c71568227e","f16303963191176ab1717932e518d74b1f1cff930284ed8e7b7ed5099e7edd87","f35b73316dc415e16e6e3cee43fb84ca3097e7fd16c632882d5707d39583e703","f590929472957411d18ec20eef9638cbbf2fa5a9ed6ac13b2c561dd77f164234","fa34447631a4d7d2996d5d2e8d2785aed34a6f2e379c2aa42bf11bc7a888ee91","fc8c5f5128f9085c69ea45d7cf00f61acb567a11520403b46484a928e75a4762","fcb5440fca280c776a245f46be16242f1c2dce3a93210e84f2419abee311ed3f","fd4668d12a8bcb393615af1447f8aca3311031f445b66095eca424f5af44fdd0","fe3531bfa492ef72663b69f84a14c7afaa854996fbb88fb0fcbcdedda18d7f36"],"recordQualifiers":{},"scopeLabel":"OMIM:201750","sourceIds":["OMIM:201750"],"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:0008726/OMIM:201750"],"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":34,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":71,"sourceGroups":{"omim":37,"orphanet":0,"published":34}},"features":[{"hpoId":"HP:0000846","label":"Adrenal insufficiency","primary":false},{"hpoId":"HP:0000062","label":"Ambiguous genitalia","primary":false},{"hpoId":"HP:0001545","label":"Anteriorly placed anus","primary":false},{"hpoId":"HP:0001166","label":"Arachnodactyly","primary":false},{"hpoId":"HP:0000048","label":"Bifid scrotum","primary":false},{"hpoId":"HP:0000248","label":"Brachycephaly","primary":false},{"hpoId":"HP:0001623","label":"Breech presentation","primary":false},{"hpoId":"HP:0001769","label":"Broad foot","primary":false},{"hpoId":"HP:0002780","label":"Bronchomalacia","primary":false},{"hpoId":"HP:0011410","label":"Caesarean section","primary":false},{"hpoId":"HP:0012385","label":"Camptodactyly","primary":false},{"hpoId":"HP:0009702","label":"Carpal synostosis","primary":false},{"hpoId":"HP:0002308","label":"Chiari malformation","primary":false},{"hpoId":"HP:0000453","label":"Choanal atresia","primary":false},{"hpoId":"HP:0000452","label":"Choanal stenosis","primary":false},{"hpoId":"HP:0000041","label":"Chordee","primary":false},{"hpoId":"HP:0008665","label":"Clitoral hypertrophy","primary":false},{"hpoId":"HP:0002676","label":"Cloverleaf skull","primary":false},{"hpoId":"HP:0000405","label":"Conductive hearing impairment","primary":false},{"hpoId":"HP:0001363","label":"Craniosynostosis","primary":false},{"hpoId":"HP:0000028","label":"Cryptorchidism","primary":false},{"hpoId":"HP:0033812","label":"Decreased circulating androstenedione concentration","primary":false},{"hpoId":"HP:0008163","label":"Decreased circulating cortisol level","primary":false},{"hpoId":"HP:0031214","label":"Decreased circulating dehydroepiandrosterone concentration","primary":false},{"hpoId":"HP:0008233","label":"Decreased circulating progesterone","primary":false},{"hpoId":"HP:0003351","label":"Decreased circulating renin concentration","primary":false},{"hpoId":"HP:0005280","label":"Depressed nasal bridge","primary":false},{"hpoId":"HP:0031213","label":"Elevated circulating 17-hydroxyprogesterone concentration","primary":false},{"hpoId":"HP:0025436","label":"Elevated serum 11-deoxycortisol","primary":false},{"hpoId":"HP:0002980","label":"Femoral bowing","primary":false},{"hpoId":"HP:0002007","label":"Frontal bossing","primary":false},{"hpoId":"HP:0025486","label":"Fused labia majora","primary":false},{"hpoId":"HP:0002937","label":"Hemivertebrae","primary":false},{"hpoId":"HP:0000085","label":"Horseshoe kidney","primary":false},{"hpoId":"HP:0003041","label":"Humeroradial synostosis","primary":false},{"hpoId":"HP:0002153","label":"Hyperkalemia","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0000822","label":"Hypertension","primary":false},{"hpoId":"HP:0001943","label":"Hypoglycemia","primary":false},{"hpoId":"HP:0002902","label":"Hyponatremia","primary":false},{"hpoId":"HP:0000013","label":"Hypoplasia of the uterus","primary":false},{"hpoId":"HP:0000047","label":"Hypospadias","primary":false},{"hpoId":"HP:0003154","label":"Increased circulating ACTH level","primary":false},{"hpoId":"HP:0031216","label":"Increased circulating progesterone","primary":false},{"hpoId":"HP:0009473","label":"Joint contracture of the hand","primary":false},{"hpoId":"HP:0000066","label":"Labial hypoplasia","primary":false},{"hpoId":"HP:0001176","label":"Large hands","primary":false},{"hpoId":"HP:0001601","label":"Laryngomalacia","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0000256","label":"Macrocephaly","primary":false},{"hpoId":"HP:0000272","label":"Malar flattening","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0000054","label":"Micropenis","primary":false},{"hpoId":"HP:0011800","label":"Midface retrusion","primary":false},{"hpoId":"HP:0001562","label":"Oligohydramnios","primary":false},{"hpoId":"HP:0000138","label":"Ovarian cyst","primary":false},{"hpoId":"HP:0000147","label":"Polycystic ovaries","primary":false},{"hpoId":"HP:0000786","label":"Primary amenorrhea","primary":false},{"hpoId":"HP:0000520","label":"Proptosis","primary":false},{"hpoId":"HP:0002974","label":"Radioulnar synostosis","primary":false},{"hpoId":"HP:0001838","label":"Rocker bottom foot","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0020206","label":"Simple ear","primary":false},{"hpoId":"HP:0001195","label":"Single umbilical artery","primary":false},{"hpoId":"HP:0001518","label":"Small for gestational age","primary":false},{"hpoId":"HP:0000046","label":"Small scrotum","primary":false},{"hpoId":"HP:0008368","label":"Tarsal synostosis","primary":false},{"hpoId":"HP:0032569","label":"Temporal bossing","primary":false},{"hpoId":"HP:0003031","label":"Ulnar bowing","primary":false},{"hpoId":"HP:0001586","label":"Vesicovaginal fistula","primary":false},{"hpoId":"HP:0000445","label":"Wide nose","primary":false}],"ledeHtml":"Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are needed for normal development and reproduction. The hormonal changes associated with cytochrome P450 oxidoreductase deficiency can affect the development of the reproductive system, skeleton, and other parts of the body. These signs and symptoms are usually present at birth or become apparent in early childhood.","mondoId":"MONDO:0008726","records":[{"frequencyKind":"reported","key":"02b98ad70c908843108764ce1c74dab1cbf21c912c70f9ce2dcda32868acb4a6","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000405","is_excluded":false,"label":"Conductive hearing impairment","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"040cd1b8329c08bc5761fbb3b34ecd0d01f25247ea39041cb55ea6cdc6b26227","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001562","is_excluded":false,"label":"Oligohydramnios","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0431db8613434b34bbd082233e445a4a5a3b82984cc2895f71b9256ff11f335e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0001838","is_excluded":false,"label":"Rocker bottom foot","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"09fd8554b9096c91e0e02b9c56e7e655a4a8ca5f6f64744d6db7621bfe71d373","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000822","is_excluded":false,"label":"Hypertension","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0ebecec6710cd175b3cc6059908ac6f765469af331e5a0039642c9474f8a4063","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002308","is_excluded":false,"label":"Chiari malformation","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0ed900df76d35fb2b936bef353d454a90e4ab4f44fd07c2d50b606ddd69ba670","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009702","is_excluded":false,"label":"Carpal synostosis","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1d0fcb18a0cbd112f8c9e4bd4c8c3d07f1c9eaaa00205bf2724efe2de446a171","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002980","is_excluded":false,"label":"Femoral bowing","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1da79d05027d4876e1c9a1a0d013059fc31a3caa565460a7965bda1296981457","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000013","is_excluded":false,"label":"Hypoplasia of the uterus","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1ea52cb3347a6881a06a662e0a116fafcd7ab43fe43cdc5f18ee8a733b66c49f","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002780","is_excluded":false,"label":"Bronchomalacia","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1f0823ff8d3d710c25b6d4edb804565d6e093dcd37317e39cbc91dde9f841e91","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002676","is_excluded":false,"label":"Cloverleaf skull","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"20167fc24725e6748899a18291621f997a92c141c211d3de052093a9f83f89c8","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000047","is_excluded":false,"label":"Hypospadias","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"20294aad1fa7b20c6ffe212e4222ea2e79f5a1e097b20eb3d84459ec7f83fea0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000256","is_excluded":false,"label":"Macrocephaly","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2179ad1b5ec0314b4e1301d5fdb0fe110bfb09f2e1e797ce9cbbef1c1773072d","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000054","is_excluded":false,"label":"Micropenis","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"2537f546aca5eed6eb692baf1560762f5b000c74ceece745bd756538e7850520","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"288b3471b75bf6daab7838cc3f5a0638a50618f07c40b3a88fa33dfb29f8bf2f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000452","is_excluded":false,"label":"Choanal stenosis","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"34fc026f1412f013d14f537371d9d7fe14d5a89532f2cb1a10c0c825713d179c","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000066","is_excluded":false,"label":"Labial hypoplasia","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"39f3cfb611deb2623f1e8d1756de379487cfbc766c22a051a620edce53b88e03","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0033812","is_excluded":false,"label":"Decreased circulating androstenedione concentration","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3d4454ddd7fe7fb35da79fa62da201407560f554c0f376862d5d0a1396d7e6eb","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"3fc290bb50c58a709675d833e64a2ab1e65f19cb113cb1fc8df99c89ba350e51","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002937","is_excluded":false,"label":"Hemivertebrae","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"44f9a010d6952c8cd6c425ad3b820a8fb74747f10502017b5bc830795a12748d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0003041","is_excluded":false,"label":"Humeroradial synostosis","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4524ac21088f377fc7e381bbc3096f5d3388d02c7f1d908f8b461d884832a90b","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000048","is_excluded":false,"label":"Bifid scrotum","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"48aae1c7b6036c54201fd732cb67c2d8d133ed2f5b86c6a5f341d19e8da54e10","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000453","is_excluded":false,"label":"Choanal atresia","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4d3c64bce6565f180b45e988df39034efd7551d70e656f98f4b76feadb91bea1","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4d8f7e68f42f0214b8c72c9d8dc684d9270dbba17ef48224bd3197c132e2f363","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0032569","is_excluded":false,"label":"Temporal bossing","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5011c280efa9d74865c9b27de7f9b12dc413dd950558cfb393c0d0d564061b00","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000272","is_excluded":false,"label":"Malar flattening","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"559507ba373f3b7587f450112c9681116ad95868908979fb93fe671654491506","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001518","is_excluded":false,"label":"Small for gestational age","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"5659c4cc686a88a43d5ed0b415b8846c643196eabe3547ff9a1af25c36fc8b4e","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0003351","is_excluded":false,"label":"Decreased circulating renin concentration","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"5f9c59685c5e5bb8dc5a704ab67d66b7109706d6b8926659ad0ba924e54dac30","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000041","is_excluded":false,"label":"Chordee","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"607f11f452e4cd5fa691c44050f42eec52d9c3ed42fa6885f002ba2f5aa898e8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003031","is_excluded":false,"label":"Ulnar bowing","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"6762457df828da871c87f0e2287d63da71bd01b28cb0c5e98afc67ab4350e5c8","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0025486","is_excluded":false,"label":"Fused labia majora","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6969893d94b28d4cc516e060e23b33ba9a331b2d406fcc3cf445acd109658f4b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0001363","is_excluded":false,"label":"Craniosynostosis","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6a51d42a45cd8dac8f2ff4778166b2ac8cfdac074f21c38835d3908c189c6f09","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000138","is_excluded":false,"label":"Ovarian cyst","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6da67d26329c3addfc07c09193d9019efbc97e6f5310801657f100495d1248a0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0011800","is_excluded":false,"label":"Midface retrusion","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"6f8c3c594a77946b8047081be626146809512f2e696c853547fb2e87e69e1b5a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"72e41726e4c2a61f3334140dc6b0998fc27ccb2bd65c2baaafba0eec568a3af8","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0031214","is_excluded":false,"label":"Decreased circulating dehydroepiandrosterone concentration","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"735dc8b1b10139149045b6288daf3952aaa6fcc02d8a23db2f07e94fd399cfa2","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000786","is_excluded":false,"label":"Primary amenorrhea","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"76fa55460fa018f0d6e76b96d11dd5f66a5647c050a30db86b023bb821020eae","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0001176","is_excluded":false,"label":"Large hands","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"81cc27182171b9b03bbac917aaf5ade0926577c8079fefafb34877cf6e1c9792","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000248","is_excluded":false,"label":"Brachycephaly","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"857cf9ce87ad5348bc15727d5695be3cbc6d17c92ed057cde802135321d81e63","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002974","is_excluded":false,"label":"Radioulnar synostosis","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"887371af5aeea63c144be9b558f9dae0d5d361b13c967643697340867a786a7f","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000046","is_excluded":false,"label":"Small scrotum","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8aa0e6730617b8f585e010caf9ccaffaf472b2bef8e49f574436e21e77912ea7","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001545","is_excluded":false,"label":"Anteriorly placed anus","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"90c5f09b01a0bfebaf7b449ba011068272bb15f301d14761cda7ba277a0fa334","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0012385","is_excluded":false,"label":"Camptodactyly","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"91d3f5d63494beaf6fab82791fc17baced6895823c3b097f5a4f257215c5524c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0001769","is_excluded":false,"label":"Broad foot","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"971100814c9d6ea77a31ba038e7a18488156038a9ce671248d748eb711bf6fa9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"11/13","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"PMID:14758361;OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"971410614d247a0540b79ab0c136725bf14b839220d8d75acdb4a99caf940b04","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0008163","is_excluded":false,"label":"Decreased circulating cortisol level","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9a587ed2e5f845eb1471c2f4803df57a9a6506840b7f04353f80740c9eadfea6","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0020206","is_excluded":false,"label":"Simple ear","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a0da5b39d912d130f8f3a331f8e70fad48c21703dea8ad3db29469f7822d53fe","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000520","is_excluded":false,"label":"Proptosis","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a55dfbf3927244f76072e0fa403344d82ba0c52c0fa7e84a935244de443c00da","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008368","is_excluded":false,"label":"Tarsal synostosis","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"bbf7542a66f5b06e30249cc12142ca957b98847ad7dc610b7080a1f2ad7e456f","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0002902","is_excluded":false,"label":"Hyponatremia","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"bd4c01144024c3b5ceb8783cb4b27eb13a2b28b85574526cfec579ce795671a1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009473","is_excluded":false,"label":"Joint contracture of the hand","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c32769fd630983396ba8e4cced3bc3f42b4f03ec4b2946aec9602f614a59c5a0","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0008233","is_excluded":false,"label":"Decreased circulating progesterone","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c944859ef4ad3d6fc0280e9997698c9329698106f649f2b46e55198f2d029ae2","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000062","is_excluded":false,"label":"Ambiguous genitalia","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"cbe4baece4b27b619f45c0c541e366e8c64a6c250ece0aa1456ab6d6b5e94770","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0008665","is_excluded":false,"label":"Clitoral hypertrophy","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"dccb444e5ec8f5538089b799db3c5386f7449f5b1e47e4da03c0f18225454319","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000085","is_excluded":false,"label":"Horseshoe kidney","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ddd2dd951b9f50195d6035db90eb9fdd76c40448b8e75b1635e6da341c554f4f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000445","is_excluded":false,"label":"Wide nose","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"deb88c436de2f54315334a2132cfe83389390da434cf31402a50b16070800e2e","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0002153","is_excluded":false,"label":"Hyperkalemia","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"df00a5c5b50f760652d72104b7a783c5d2864a4b57d1ef0b4f23ad81062f1102","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001601","is_excluded":false,"label":"Laryngomalacia","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"e104962d928c8e16360d25ae8d53baabec8a14227e197496ce704b5ec8830e1b","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0011410","is_excluded":false,"label":"Caesarean section","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e36fbdd5a141ff5e1e91f9b7647dd00c73552a61b2c608867ec7e5bd58fbcc11","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0003154","is_excluded":false,"label":"Increased circulating ACTH level","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e3753c7c8f68865df7290eb93893eddef00e9718c49c73ef411e0b8c42be220d","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0001943","is_excluded":false,"label":"Hypoglycemia","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ece38f221a4c78753aa737ad1cfa2ffa1d7c5bf2b3b135edc2212f9e8416de2d","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0025436","is_excluded":false,"label":"Elevated serum 11-deoxycortisol","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"efdd1894b342a0e5606dbd9a3c23c17f6c97c8de0d09fe27cad9bdf6bd002af0","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f1044d9c7db22cd654fd1b60d27cb6c35149d7d7b2f7a6be73cfa9c71568227e","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0001623","is_excluded":false,"label":"Breech presentation","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f16303963191176ab1717932e518d74b1f1cff930284ed8e7b7ed5099e7edd87","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f35b73316dc415e16e6e3cee43fb84ca3097e7fd16c632882d5707d39583e703","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0031213","is_excluded":false,"label":"Elevated circulating 17-hydroxyprogesterone concentration","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f590929472957411d18ec20eef9638cbbf2fa5a9ed6ac13b2c561dd77f164234","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001586","is_excluded":false,"label":"Vesicovaginal fistula","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fa34447631a4d7d2996d5d2e8d2785aed34a6f2e379c2aa42bf11bc7a888ee91","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000147","is_excluded":false,"label":"Polycystic ovaries","onset_id":null,"reference":"OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"fc8c5f5128f9085c69ea45d7cf00f61acb567a11520403b46484a928e75a4762","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0031216","is_excluded":false,"label":"Increased circulating progesterone","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fcb5440fca280c776a245f46be16242f1c2dce3a93210e84f2419abee311ed3f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0001166","is_excluded":false,"label":"Arachnodactyly","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fd4668d12a8bcb393615af1447f8aca3311031f445b66095eca424f5af44fdd0","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000846","is_excluded":false,"label":"Adrenal insufficiency","onset_id":null,"reference":"PMID:14758361","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fe3531bfa492ef72663b69f84a14c7afaa854996fbb88fb0fcbcdedda18d7f36","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:201750","disease_name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","evidence":"PCS","frequency_raw":"20/20","hpo_id":"HP:0001195","is_excluded":false,"label":"Single umbilical artery","onset_id":null,"reference":"PMID:14758361;OMIM:201750","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency\">Cytochrome P450 oxidoreductase deficiency</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene. This gene provides instructions for making the enzyme cytochrome P450 oxidoreductase, which plays a critical role in the formation of steroid hormones. This group of hormones includes testosterone and estrogen, which are essential for normal sexual development and reproduction; corticosteroids, which are involved in the body&#x27;s response to stress; and aldosterone, which helps regulate the body&#x27;s salt and water balance.</p><p>Mutations in the POR gene reduce the activity of cytochrome P450 oxidoreductase, which disrupts the production of steroid hormones. Changes in sex hormones such as testosterone and estrogen lead to problems with sexual development before birth and at puberty. In a woman who is pregnant with an affected fetus, abnormal levels of sex hormones in the fetus may cause her to have mild, temporary signs and symptoms of cytochrome P450 oxidoreductase deficiency.</p><p>Cytochrome P450 oxidoreductase is also needed for the production of cholesterol. This substance has many essential functions both before and after birth, including roles in the production of steroid hormones and in the formation and growth of bones. Mutations in the POR gene can disrupt the production of cholesterol, which likely impairs normal bone formation in the severe form of cytochrome P450 oxidoreductase deficiency. Studies suggest that a molecule called retinoic acid also plays a role in the skeletal abnormalities found in severe cases. The breakdown of retinoic acid requires cytochrome P450 oxidoreductase; if a shortage of cytochrome P450 oxidoreductase prevents retinoic acid from being broken down, the resulting excess of that molecule can stimulate the abnormal growth and fusion of bones.</p><p>The skeletal abnormalities found in the severe form of this disorder can also result from mutations in another gene, FGFR2. Some researchers use the name Antley-Bixler syndrome to describe these features, whether they are caused by mutations in the POR gene or in the FGFR2 gene. Others use the name Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis for cases caused by POR gene mutations, reserving the name Antley-Bixler syndrome for cases caused by FGFR2 gene mutations.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Cytochrome P450 oxidoreductase deficiency?"},{"bodyHtml":"<p>The signs and symptoms of cytochrome P450 oxidoreductase deficiency vary from mild to severe. Signs and symptoms of mild cases can include a failure to begin menstruation by age 16 (primary amenorrhea), an inability to have biological children (infertility) in both men and women, and a condition called polycystic ovarian syndrome (PCOS). PCOS is characterized by a hormonal imbalance in women that can lead to irregular menstruation, acne, excess body hair (hirsutism), and weight gain.</p><p>People with moderate cases of cytochrome P450 oxidoreductase deficiency may have external genitalia that do not look clearly male or female, and they may have infertility. People with moderate cytochrome P450 oxidoreductase deficiency usually do not have skeletal abnormalities.</p><p>The severe form of cytochrome P450 oxidoreductase deficiency is sometimes called Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. Hormonal changes in affected males and females lead to the development of genital differences, as well as infertility. Severe cases are also characterized by skeletal abnormalities, particularly involving bones of the head and face. These include premature fusion of the skull bones (craniosynostosis), a flattened mid-face, a prominent forehead, and low-set ears. Other skeletal abnormalities can include joint deformities (contractures) that limit movement; unusually long, slender fingers (arachnodactyly); bowing of the thigh bones; and radiohumeral synostosis, which is a bone abnormality that locks the elbows in a bent position. A blockage of the nasal passages (choanal atresia), intellectual disability, and delayed development are also associated with the severe form of the disorder.</p><p>Some women who are pregnant with fetuses affected by cytochrome P450 oxidoreductase deficiency experience mild symptoms of the disorder even though they themselves do not have the disorder. They may develop excessive body hair growth (hirsutism), acne, and a deep voice. These changes go away soon after delivery.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"cytochrome-p450-oxidoreductase-deficiency","sourceDocuments":[{"name":"Cytochrome P450 oxidoreductase deficiency","reviewed":"2014-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:50.095032+00:00","label":"Causes","pageSha256":"94f3aeb9bbe5d4a1732ed63947044e8e1cee6a94831bbbcbd031978588fc41d2","sourceUrl":"https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency"}],"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":"Cytochrome P450 oxidoreductase deficiency"},"schemaVersion":1}