{"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:0008404/OMIM:181270","label":"Scalp-ear-nipple syndrome","mondoId":"MONDO:0008404","onsetQualifier":null,"recordKeys":["0226300059821668615d82d051c12d0ac5c7f212e8abbc6d090bc485cd04149a","06297f87554cf90581b3b8affa2790900f4fe5bf4b0f07d0ed12a30593d1c050","0631899a5f534c42e358d263176b22611e536dcddf43e66c2986f59286996f1f","082787c14d873b165be56407dc103ae0d3e3fe76fb27f746629786971d2306be","13c8e50428c3949ce7d2d236424e0aad4e662f65f1a2ec8d7e5b6dda8f7ec2e7","152a293d7154b302396ce62e4a73e75c98165747232fa255cd21d9fa7dfc8f87","1a6571c1ca10b28d83870ae52a72d21f44b509d4de87cb0bac66baca82b0030f","1c4a62c64de157586258a845a07a356dd1f07e25e78145e9aa1538ee2ea20502","1dd603db790aa1f3fa181114acc24391f86d6d2b7111a9b2f09a5caa7027acd7","1f1deac3489047154f92690e315bd655de0481094e5f057fd69c8f9a4db957fc","2317b3aa2c0c42958be145f9490fd25bcaf764cf35a34dfbb9c7b2b2ab1786c1","2a4d9a2533935697a8b4e635dd4724b7c1e9a3eedda258dfc80b2bede938d2dc","2b76a5bbbb8ce217a6ce383972f03cd0af3c2caa7514aa4442eeccc4f11fc231","2cc08e983c5e85729e362a10a78ca493e5a1c4acc9946cf2f4a564e43822d84b","3792d182acd991b98b843e47f3b497403f88570623f49fa7566adb5ecab04d51","388c16eaa83a0951a554ecbcf2f56b4e27b10abaf64567711c8091d0c72ad479","4376e101dcd16191af7d7a9543a7bc4bc2f7fa0ab1b8ef2c3b8550535a7e892e","45f181ea86b69342c2fde2d98bc9381ec613359d9104b55d3b6bc89fca4f75cd","4807167f133b35da8e409fb546151d0b501ca2289ff34e334c1d0351829e5195","4a22470089d2d5803aa7d70cbd4d841630f1496b22055bd30a9aa210cc15ddbe","4e034523cf54f40441071c8fb5341705adc85985976e2fe02327e9ca975b52e4","4f950658574bfe06b22d44beb7da8afb210af216ded816216d01dd5e66536aaf","56066bd3a4b6928d8d8fa98780eec194ff217a3e6e9866f1a289f11c29634649","56f2ff11a1681c3d2775789d6d3923ac7a5bbe221c976952e30e012f3ce5e152","593cb224154c5b34147fc9cae771af19f417c3abc13440bc677b69cb668a9293","612b18bcba34d81493a87c75a63f78dcbcc51877d32522f2ded7e53cab824def","67caac58b91bd208fa9a8cf75c12381fe99d02dd16668ae5311cf51a96ce9e56","689bf5884f0ec8acb94700c61cd6b6e21415ea5c014d02a8895f8baf10fc0827","7a76c64df37f3b7da1637d1a5a8fc31e8cea41b558f65e2053a079ce972e1b86","81e7fb8fded1b8f2351cf1015b68dd9bd81619c5d07db837a0118064f7eaf8e4","84ad631ec17b278e59e1dc9f242cc7112b04465c95083a690a2d600c2e50fb77","88a01a4d5af77147c2f075c7ec0426018f66f49a2d29e844827f8322de4b5c31","8f0908eebe4877586f8f760ee70dcc90f55893bd0883873e469f7afaf5763043","8f7c873bee5e30df9f74d29707f5144b85071758916a252c1ffc41a1f17fb541","8f82ea2924d286d88cda1f7d9e3999364f709050d0685998f29ab968d64cb5bd","939c7a8a8f9affc094c2cff7f8b1508336179b214ddf4a9c90cb1f9cc70f271f","952d139c19a0746d2506e0e69aa28373546824e8f6d445ddcb8d72e53f748aba","99a6e1493718d92ab8b7a5f1304b24d71a8206bb484b0e3e23448e933ff9267f","9c49db009247f3c7b48bf35bb18548cd62a1b85cea8dfb04bf7484413d36894b","9c65e433ddb03c7c187c5a4899badfdd02d12534884457a40ba99ba3bef92599","9e39271b28c7f486245d4b772bce9c3a99b29f4b7f84c25358bc6aabcc2f8af9","9e3e78862ed3947df7277b6996881f299baca134860dc14f3f743fc58cf9626c","9fa5e595c40862ce0b4e9817627d29dcdbfe73fe7b2b64d1aac71782e8cfd297","b15331d7042933141ad5687428542b716dbdddbdcfe9a36164bbb56925ec8309","b4f1308d443a0f60ecc54c433eb91ac556b53dfd44b64c2eee19b690712a5b75","b5080275bb0f9c2dc6ad88b027368efa00564c1a3c6e4ffa0a63b10bf0e3c3fb","b99272563ff8e34173375c1b3a5b4fada3038fb92255e1c7c980c22f1060e235","bc59f9ecc89a4e096e36ff2962209addf9a1f566017163252671ae3b4746178e","bec550a0efeea9d282311b428c678fa0bbc20591fa3cd4bd8b5c7666f38449e4","c210ba9b3906ea6e41990f2fbbd54fb496a2093857fa1892c14277ce06bc30a0","cedc816293e34bbdd4a750b688a7603b2c2323619dcdb9fc64f5e329d9233857","d6fcf909a06fd34b73e3e8c46e61b57598c0b03aafc43e72b11dd4eb3c2209ec","e292db7c9002238b9e990261d70ad986be273e7bf11442cd51bae8f14e297274","e5332dab94ba562d14b6918bcc48ddefda3c9b46468b3510fc5868e0d4dfd474","eecee5c4998d34f2cc79b64bd26ebb80fd1e445e38bd4363a9c9f4f8f001e686","f57ad8c5d17b7c77faa4063aabf02502fc27398057db2a82fe57e3bedceaf30c","fed83c1a5d64cb5d464a00dae7339fccf765613084a09f7f9dc5f41d2afc2582","ff030ec203e027f20f08ed56145f348a49ce1a006c46eb4b1668f43fed6673c5"],"recordQualifiers":{},"scopeLabel":"OMIM:181270","sourceIds":["OMIM:181270"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0008404/ORPHA:2036","label":"Scalp-ear-nipple syndrome","mondoId":"MONDO:0008404","onsetQualifier":null,"recordKeys":["0da7e4c51d58d3efa576f7dad6ddb376246fa9e3872a5cc14637eaa40811ce76","1217a8d8697d3254153797f47c1be1bb7ca89e8506a93c74995c585302025967","1f76b4568eb1c692f5486f2c1e3d66a3f4ac5e2d3d55b401e33ebee1d436ed64","20c0c089215cfaece03e8d102fdbca22859492c65f0837a58a917c7f9f558ba8","424e04759a4d18eff8b3185fd8a356de4e904a2ceb2ad1ef0fe968333f744e15","47dc297b66118998a213c9bb783538521e0814143c9095bcec7b39c24ec8c330","5a3e8f54b3866d4c3bd718d6b014ec6fe6b24e8961093cec77ab8543801c2554","62eb554d6a2da8b9ce267aef4f26dbd39db6a4b9f2ce674bc29efdcd81896e5b","64a0717cb14a638e1360f83d8885134295c93ec187f7b2db764b8959b6319686","654fd95e3534dbb208c1b376119c2b05a3db5c26c3e3149d0faaccd109619e4e","74b2495348849a4c87d062ff7028c71ce0cacce41d1d016e997b89133dd388bb","798e9be0b48b3fd91fc066f6beb40c0a1e3518677d53b4719b89690b147c8625","8bdd59f259ecc540af9efa8d3de24c605c3840c54abb8a4772855284ef72b8fb","905ab949239f9d1fd3e32d91b5b325bbb8ac42a1e14e6c1292da2ed3cac162c6","943df361f5c3bc95429e5f25c35873dbb34a14ac012218f9f34a0f5b6295c01c","99adb3fec86c61e6a67fb364a7eb51d25cc782d90608235e7bb00808c83657fc","9a0f9556aac035125136f1af4142e8707df0edadafdc1d4a34d55fa9848c5376","9ee9a4daf0800767d8b4e0eb9323f1fe97e671eb223cbe4f0db2395c67a073b0","a22b621e140792883e1eae56b913f562d549fb420098b832091125be160d6ba6","ab20e8690b60b81edde95e3d8fd5c1cbd98bcd2e31fa8731c0db0e6da111d480","b29b78800eca0232746a0429eea13757bbfa543214e41ab9f5b98fe45ee7ed9f","c49a8b41c5d9ee443016879c2e0b67b086cd46c9a20b8927e0f4228d48852b8f","d3c6c82c4de3bd288d5c0d97f1f586ac14d06144f2d3456db7130c34c8bbc8df","ead66981ea14dff4848754ad24fd833084e0c0fc6ee9bf3a4e900af0210782e0","fddc77354a7d428436643492c68203a8cdbda2e5bfc66e367de281e81dca0947"],"recordQualifiers":{},"scopeLabel":"ORPHA:2036","sourceIds":["ORPHA:2036"],"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:0008404/OMIM:181270","MONDO:0008404/ORPHA:2036"],"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":42,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":83,"sourceGroups":{"omim":20,"orphanet":25,"published":38}},"features":[{"hpoId":"HP:0004691","label":"2-3 toe syndactyly","primary":false},{"hpoId":"HP:0011939","label":"3-4 finger cutaneous syndactyly","primary":false},{"hpoId":"HP:0009738","label":"Abnormal antihelix morphology","primary":false},{"hpoId":"HP:0001231","label":"Abnormal fingernail morphology","primary":false},{"hpoId":"HP:0001965","label":"Abnormal scalp morphology","primary":false},{"hpoId":"HP:0000164","label":"Abnormality of the dentition","primary":false},{"hpoId":"HP:0000077","label":"Abnormality of the kidney","primary":false},{"hpoId":"HP:0000951","label":"Abnormality of the skin","primary":false},{"hpoId":"HP:0006349","label":"Agenesis of permanent teeth","primary":false},{"hpoId":"HP:0009916","label":"Anisocoria","primary":false},{"hpoId":"HP:0040080","label":"Anteverted ears","primary":false},{"hpoId":"HP:0000463","label":"Anteverted nares","primary":false},{"hpoId":"HP:0001057","label":"Aplasia cutis congenita","primary":false},{"hpoId":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","primary":false},{"hpoId":"HP:0000193","label":"Bifid uvula","primary":false},{"hpoId":"HP:0000581","label":"Blepharophimosis","primary":false},{"hpoId":"HP:0100783","label":"Breast aplasia","primary":false},{"hpoId":"HP:0011304","label":"Broad thumb","primary":false},{"hpoId":"HP:0001362","label":"Calvarial skull defect","primary":false},{"hpoId":"HP:0011672","label":"Cardiac myxoma","primary":false},{"hpoId":"HP:0000518","label":"Cataract","primary":false},{"hpoId":"HP:0004209","label":"Clinodactyly of the 5th finger","primary":false},{"hpoId":"HP:0001635","label":"Congestive heart failure","primary":false},{"hpoId":"HP:0000378","label":"Cupped ear","primary":false},{"hpoId":"HP:0000992","label":"Cutaneous photosensitivity","primary":false},{"hpoId":"HP:0000684","label":"Delayed eruption of teeth","primary":false},{"hpoId":"HP:0005280","label":"Depressed nasal bridge","primary":false},{"hpoId":"HP:0000519","label":"Developmental cataract","primary":false},{"hpoId":"HP:0000958","label":"Dry skin","primary":false},{"hpoId":"HP:0005580","label":"Duplication of renal pelvis","primary":false},{"hpoId":"HP:0000286","label":"Epicanthus","primary":false},{"hpoId":"HP:0000625","label":"Eyelid coloboma","primary":false},{"hpoId":"HP:0002213","label":"Fine hair","primary":false},{"hpoId":"HP:0006101","label":"Finger syndactyly","primary":false},{"hpoId":"HP:0002007","label":"Frontal bossing","primary":false},{"hpoId":"HP:0000822","label":"Hypertension","primary":false},{"hpoId":"HP:0000966","label":"Hypohidrosis","primary":false},{"hpoId":"HP:0000601","label":"Hypotelorism","primary":false},{"hpoId":"HP:0000612","label":"Iris coloboma","primary":false},{"hpoId":"HP:0006956","label":"Lateral ventricle dilatation","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0000652","label":"Lower eyelid coloboma","primary":false},{"hpoId":"HP:0000303","label":"Mandibular prognathia","primary":false},{"hpoId":"HP:0008551","label":"Microtia","primary":false},{"hpoId":"HP:0001012","label":"Multiple lipomas","primary":false},{"hpoId":"HP:0002164","label":"Nail dysplasia","primary":false},{"hpoId":"HP:0045025","label":"Narrow palpebral fissure","primary":false},{"hpoId":"HP:0000396","label":"Overfolded helix","primary":false},{"hpoId":"HP:0100540","label":"Palpebral edema","primary":false},{"hpoId":"HP:0002232","label":"Patchy alopecia","primary":false},{"hpoId":"HP:0000358","label":"Posteriorly rotated ears","primary":false},{"hpoId":"HP:0000411","label":"Protruding ear","primary":false},{"hpoId":"HP:0012330","label":"Pyelonephritis","primary":false},{"hpoId":"HP:0000010","label":"Recurrent urinary tract infections","primary":false},{"hpoId":"HP:0000089","label":"Renal hypoplasia","primary":false},{"hpoId":"HP:0000083","label":"Renal insufficiency","primary":false},{"hpoId":"HP:0002000","label":"Short columella","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0000385","label":"Small earlobe","primary":false},{"hpoId":"HP:0002215","label":"Sparse axillary hair","primary":false},{"hpoId":"HP:0008070","label":"Sparse hair","primary":false},{"hpoId":"HP:0002225","label":"Sparse pubic hair","primary":false},{"hpoId":"HP:0004755","label":"Supraventricular tachycardia","primary":false},{"hpoId":"HP:0000506","label":"Telecanthus","primary":false},{"hpoId":"HP:0001072","label":"Thickened skin","primary":false},{"hpoId":"HP:0100651","label":"Type I diabetes mellitus","primary":false},{"hpoId":"HP:0011251","label":"Underdeveloped antitragus","primary":false},{"hpoId":"HP:0011272","label":"Underdeveloped tragus","primary":false},{"hpoId":"HP:0000122","label":"Unilateral renal agenesis","primary":false},{"hpoId":"HP:0000073","label":"Ureteral duplication","primary":false}],"ledeHtml":"Scalp-ear-nipple syndrome, as its name suggests, is a condition characterized by abnormalities of the scalp, ears, and nipples. Less frequently, affected individuals have problems affecting other parts of the body. The features of this disorder can vary even within the same family.","mondoId":"MONDO:0008404","records":[{"frequencyKind":"count","key":"0226300059821668615d82d051c12d0ac5c7f212e8abbc6d090bc485cd04149a","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"11/20","hpo_id":"HP:0002164","is_excluded":false,"label":"Nail dysplasia","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"06297f87554cf90581b3b8affa2790900f4fe5bf4b0f07d0ed12a30593d1c050","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0006349","is_excluded":false,"label":"Agenesis of permanent teeth","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0631899a5f534c42e358d263176b22611e536dcddf43e66c2986f59286996f1f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/19","hpo_id":"HP:0011304","is_excluded":false,"label":"Broad thumb","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"082787c14d873b165be56407dc103ae0d3e3fe76fb27f746629786971d2306be","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"29/29","hpo_id":"HP:0001057","is_excluded":false,"label":"Aplasia cutis congenita","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0da7e4c51d58d3efa576f7dad6ddb376246fa9e3872a5cc14637eaa40811ce76","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001965","is_excluded":false,"label":"Abnormal scalp morphology","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1217a8d8697d3254153797f47c1be1bb7ca89e8506a93c74995c585302025967","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100651","is_excluded":false,"label":"Type I diabetes mellitus","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"13c8e50428c3949ce7d2d236424e0aad4e662f65f1a2ec8d7e5b6dda8f7ec2e7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"IEA","frequency_raw":"HP:0040284","hpo_id":"HP:0045025","is_excluded":false,"label":"Narrow palpebral fissure","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"152a293d7154b302396ce62e4a73e75c98165747232fa255cd21d9fa7dfc8f87","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000411","is_excluded":false,"label":"Protruding ear","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1a6571c1ca10b28d83870ae52a72d21f44b509d4de87cb0bac66baca82b0030f","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"6/7","hpo_id":"HP:0000966","is_excluded":false,"label":"Hypohidrosis","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1c4a62c64de157586258a845a07a356dd1f07e25e78145e9aa1538ee2ea20502","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/17","hpo_id":"HP:0011672","is_excluded":false,"label":"Cardiac myxoma","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1dd603db790aa1f3fa181114acc24391f86d6d2b7111a9b2f09a5caa7027acd7","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/12","hpo_id":"HP:0002232","is_excluded":false,"label":"Patchy alopecia","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1f1deac3489047154f92690e315bd655de0481094e5f057fd69c8f9a4db957fc","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"1/17","hpo_id":"HP:0000612","is_excluded":false,"label":"Iris coloboma","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1f76b4568eb1c692f5486f2c1e3d66a3f4ac5e2d3d55b401e33ebee1d436ed64","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100540","is_excluded":false,"label":"Palpebral edema","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"20c0c089215cfaece03e8d102fdbca22859492c65f0837a58a917c7f9f558ba8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000164","is_excluded":false,"label":"Abnormality of the dentition","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2317b3aa2c0c42958be145f9490fd25bcaf764cf35a34dfbb9c7b2b2ab1786c1","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"16/19","hpo_id":"HP:0000396","is_excluded":false,"label":"Overfolded helix","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2a4d9a2533935697a8b4e635dd4724b7c1e9a3eedda258dfc80b2bede938d2dc","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"9/9","hpo_id":"HP:0002215","is_excluded":false,"label":"Sparse axillary hair","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2b76a5bbbb8ce217a6ce383972f03cd0af3c2caa7514aa4442eeccc4f11fc231","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/17","hpo_id":"HP:0000652","is_excluded":false,"label":"Lower eyelid coloboma","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2cc08e983c5e85729e362a10a78ca493e5a1c4acc9946cf2f4a564e43822d84b","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/17","hpo_id":"HP:0004755","is_excluded":false,"label":"Supraventricular tachycardia","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3792d182acd991b98b843e47f3b497403f88570623f49fa7566adb5ecab04d51","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/12","hpo_id":"HP:0000358","is_excluded":false,"label":"Posteriorly rotated ears","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"388c16eaa83a0951a554ecbcf2f56b4e27b10abaf64567711c8091d0c72ad479","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"7/12","hpo_id":"HP:0002213","is_excluded":false,"label":"Fine hair","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"424e04759a4d18eff8b3185fd8a356de4e904a2ceb2ad1ef0fe968333f744e15","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011272","is_excluded":false,"label":"Underdeveloped tragus","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4376e101dcd16191af7d7a9543a7bc4bc2f7fa0ab1b8ef2c3b8550535a7e892e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000463","is_excluded":false,"label":"Anteverted nares","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"45f181ea86b69342c2fde2d98bc9381ec613359d9104b55d3b6bc89fca4f75cd","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"5/15","hpo_id":"HP:0000083","is_excluded":false,"label":"Renal insufficiency","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"47dc297b66118998a213c9bb783538521e0814143c9095bcec7b39c24ec8c330","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000951","is_excluded":false,"label":"Abnormality of the skin","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4807167f133b35da8e409fb546151d0b501ca2289ff34e334c1d0351829e5195","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004691","is_excluded":false,"label":"2-3 toe syndactyly","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"4a22470089d2d5803aa7d70cbd4d841630f1496b22055bd30a9aa210cc15ddbe","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"3/17","hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"4e034523cf54f40441071c8fb5341705adc85985976e2fe02327e9ca975b52e4","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/17","hpo_id":"HP:0000992","is_excluded":false,"label":"Cutaneous photosensitivity","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4f950658574bfe06b22d44beb7da8afb210af216ded816216d01dd5e66536aaf","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000385","is_excluded":false,"label":"Small earlobe","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"56066bd3a4b6928d8d8fa98780eec194ff217a3e6e9866f1a289f11c29634649","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/17","hpo_id":"HP:0001072","is_excluded":false,"label":"Thickened skin","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"56f2ff11a1681c3d2775789d6d3923ac7a5bbe221c976952e30e012f3ce5e152","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011939","is_excluded":false,"label":"3-4 finger cutaneous syndactyly","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"593cb224154c5b34147fc9cae771af19f417c3abc13440bc677b69cb668a9293","raw":{"aspect":"P","body_system":"breast","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100783","is_excluded":false,"label":"Breast aplasia","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5a3e8f54b3866d4c3bd718d6b014ec6fe6b24e8961093cec77ab8543801c2554","raw":{"aspect":"P","body_system":"breast","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100783","is_excluded":false,"label":"Breast aplasia","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"612b18bcba34d81493a87c75a63f78dcbcc51877d32522f2ded7e53cab824def","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/17","hpo_id":"HP:0006956","is_excluded":false,"label":"Lateral ventricle dilatation","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"62eb554d6a2da8b9ce267aef4f26dbd39db6a4b9f2ce674bc29efdcd81896e5b","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000385","is_excluded":false,"label":"Small earlobe","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"64a0717cb14a638e1360f83d8885134295c93ec187f7b2db764b8959b6319686","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012330","is_excluded":false,"label":"Pyelonephritis","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"654fd95e3534dbb208c1b376119c2b05a3db5c26c3e3149d0faaccd109619e4e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000010","is_excluded":false,"label":"Recurrent urinary tract infections","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"67caac58b91bd208fa9a8cf75c12381fe99d02dd16668ae5311cf51a96ce9e56","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/17","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"689bf5884f0ec8acb94700c61cd6b6e21415ea5c014d02a8895f8baf10fc0827","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"2/12","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"74b2495348849a4c87d062ff7028c71ce0cacce41d1d016e997b89133dd388bb","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008070","is_excluded":false,"label":"Sparse hair","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"798e9be0b48b3fd91fc066f6beb40c0a1e3518677d53b4719b89690b147c8625","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000073","is_excluded":false,"label":"Ureteral duplication","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7a76c64df37f3b7da1637d1a5a8fc31e8cea41b558f65e2053a079ce972e1b86","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/12","hpo_id":"HP:0011272","is_excluded":false,"label":"Underdeveloped tragus","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"81e7fb8fded1b8f2351cf1015b68dd9bd81619c5d07db837a0118064f7eaf8e4","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0012330","is_excluded":false,"label":"Pyelonephritis","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"84ad631ec17b278e59e1dc9f242cc7112b04465c95083a690a2d600c2e50fb77","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"2/17","hpo_id":"HP:0000958","is_excluded":false,"label":"Dry skin","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"88a01a4d5af77147c2f075c7ec0426018f66f49a2d29e844827f8322de4b5c31","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000581","is_excluded":false,"label":"Blepharophimosis","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8bdd59f259ecc540af9efa8d3de24c605c3840c54abb8a4772855284ef72b8fb","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001231","is_excluded":false,"label":"Abnormal fingernail morphology","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8f0908eebe4877586f8f760ee70dcc90f55893bd0883873e469f7afaf5763043","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008070","is_excluded":false,"label":"Sparse hair","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8f7c873bee5e30df9f74d29707f5144b85071758916a252c1ffc41a1f17fb541","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000378","is_excluded":false,"label":"Cupped ear","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8f82ea2924d286d88cda1f7d9e3999364f709050d0685998f29ab968d64cb5bd","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/17","hpo_id":"HP:0000193","is_excluded":false,"label":"Bifid uvula","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"905ab949239f9d1fd3e32d91b5b325bbb8ac42a1e14e6c1292da2ed3cac162c6","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011251","is_excluded":false,"label":"Underdeveloped antitragus","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"939c7a8a8f9affc094c2cff7f8b1508336179b214ddf4a9c90cb1f9cc70f271f","raw":{"aspect":"P","body_system":"breast","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"21/26","hpo_id":"HP:0006709","is_excluded":false,"label":"Aplasia/Hypoplasia of the nipples","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"943df361f5c3bc95429e5f25c35873dbb34a14ac012218f9f34a0f5b6295c01c","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000077","is_excluded":false,"label":"Abnormality of the kidney","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"952d139c19a0746d2506e0e69aa28373546824e8f6d445ddcb8d72e53f748aba","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000601","is_excluded":false,"label":"Hypotelorism","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"99a6e1493718d92ab8b7a5f1304b24d71a8206bb484b0e3e23448e933ff9267f","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/17","hpo_id":"HP:0001635","is_excluded":false,"label":"Congestive heart failure","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"99adb3fec86c61e6a67fb364a7eb51d25cc782d90608235e7bb00808c83657fc","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005580","is_excluded":false,"label":"Duplication of renal pelvis","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9a0f9556aac035125136f1af4142e8707df0edadafdc1d4a34d55fa9848c5376","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000966","is_excluded":false,"label":"Hypohidrosis","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9c49db009247f3c7b48bf35bb18548cd62a1b85cea8dfb04bf7484413d36894b","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"3/12","hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9c65e433ddb03c7c187c5a4899badfdd02d12534884457a40ba99ba3bef92599","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"8/14","hpo_id":"HP:0040080","is_excluded":false,"label":"Anteverted ears","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9e39271b28c7f486245d4b772bce9c3a99b29f4b7f84c25358bc6aabcc2f8af9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"2/17","hpo_id":"HP:0001362","is_excluded":false,"label":"Calvarial skull defect","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9e3e78862ed3947df7277b6996881f299baca134860dc14f3f743fc58cf9626c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100540","is_excluded":false,"label":"Palpebral edema","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9ee9a4daf0800767d8b4e0eb9323f1fe97e671eb223cbe4f0db2395c67a073b0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000506","is_excluded":false,"label":"Telecanthus","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9fa5e595c40862ce0b4e9817627d29dcdbfe73fe7b2b64d1aac71782e8cfd297","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/15","hpo_id":"HP:0000122","is_excluded":false,"label":"Unilateral renal agenesis","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a22b621e140792883e1eae56b913f562d549fb420098b832091125be160d6ba6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000625","is_excluded":false,"label":"Eyelid coloboma","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ab20e8690b60b81edde95e3d8fd5c1cbd98bcd2e31fa8731c0db0e6da111d480","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000822","is_excluded":false,"label":"Hypertension","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b15331d7042933141ad5687428542b716dbdddbdcfe9a36164bbb56925ec8309","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"9/9","hpo_id":"HP:0002225","is_excluded":false,"label":"Sparse pubic hair","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b29b78800eca0232746a0429eea13757bbfa543214e41ab9f5b98fe45ee7ed9f","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0009738","is_excluded":false,"label":"Abnormal antihelix morphology","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b4f1308d443a0f60ecc54c433eb91ac556b53dfd44b64c2eee19b690712a5b75","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"6/19","hpo_id":"HP:0006101","is_excluded":false,"label":"Finger syndactyly","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b5080275bb0f9c2dc6ad88b027368efa00564c1a3c6e4ffa0a63b10bf0e3c3fb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"3/19","hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b99272563ff8e34173375c1b3a5b4fada3038fb92255e1c7c980c22f1060e235","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/17","hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"bc59f9ecc89a4e096e36ff2962209addf9a1f566017163252671ae3b4746178e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000303","is_excluded":false,"label":"Mandibular prognathia","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"bec550a0efeea9d282311b428c678fa0bbc20591fa3cd4bd8b5c7666f38449e4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"5/17","hpo_id":"HP:0000506","is_excluded":false,"label":"Telecanthus","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c210ba9b3906ea6e41990f2fbbd54fb496a2093857fa1892c14277ce06bc30a0","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/12","hpo_id":"HP:0011251","is_excluded":false,"label":"Underdeveloped antitragus","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c49a8b41c5d9ee443016879c2e0b67b086cd46c9a20b8927e0f4228d48852b8f","raw":{"aspect":"P","body_system":"breast","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0006709","is_excluded":false,"label":"Aplasia/Hypoplasia of the nipples","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"cedc816293e34bbdd4a750b688a7603b2c2323619dcdb9fc64f5e329d9233857","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"2/17","hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d3c6c82c4de3bd288d5c0d97f1f586ac14d06144f2d3456db7130c34c8bbc8df","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d6fcf909a06fd34b73e3e8c46e61b57598c0b03aafc43e72b11dd4eb3c2209ec","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000519","is_excluded":false,"label":"Developmental cataract","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"e292db7c9002238b9e990261d70ad986be273e7bf11442cd51bae8f14e297274","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/17","hpo_id":"HP:0001012","is_excluded":false,"label":"Multiple lipomas","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e5332dab94ba562d14b6918bcc48ddefda3c9b46468b3510fc5868e0d4dfd474","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/17","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ead66981ea14dff4848754ad24fd833084e0c0fc6ee9bf3a4e900af0210782e0","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"eecee5c4998d34f2cc79b64bd26ebb80fd1e445e38bd4363a9c9f4f8f001e686","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"1/17","hpo_id":"HP:0009916","is_excluded":false,"label":"Anisocoria","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f57ad8c5d17b7c77faa4063aabf02502fc27398057db2a82fe57e3bedceaf30c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002000","is_excluded":false,"label":"Short columella","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fddc77354a7d428436643492c68203a8cdbda2e5bfc66e367de281e81dca0947","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2036","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000684","is_excluded":false,"label":"Delayed eruption of teeth","onset_id":null,"reference":"ORPHA:2036","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fed83c1a5d64cb5d464a00dae7339fccf765613084a09f7f9dc5f41d2afc2582","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"TAS","frequency_raw":"7/17","hpo_id":"HP:0000822","is_excluded":false,"label":"Hypertension","onset_id":null,"reference":"OMIM:181270","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ff030ec203e027f20f08ed56145f348a49ce1a006c46eb4b1668f43fed6673c5","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:181270","disease_name":"Scalp-ear-nipple syndrome","evidence":"PCS","frequency_raw":"4/15","hpo_id":"HP:0000089","is_excluded":false,"label":"Renal hypoplasia","onset_id":null,"reference":"PMID:23541344","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/scalp-ear-nipple-syndrome\">Scalp-ear-nipple 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>Scalp-ear-nipple syndrome is caused by mutations in the KCTD1 gene. This gene provides instructions for making a protein that acts as a transcriptional repressor, which means that it turns off (represses) the activity of certain genes when they are not needed. Specifically, the KCTD1 protein is thought to control (regulate) the activity of genes involved in the development of an embryonic cell layer called the ectoderm. Within the developing embryo, the ectoderm gives rise to several body tissues including the skin, hair, nails, and teeth.</p><p>The mutations in the KCTD1 gene that cause scalp-ear-nipple syndrome impair the transcriptional repressor function of the KCTD1 protein. Impairment of this function results in abnormal regulation of genes involved in ectodermal development. The altered gene activity disrupts normal development of the tissues that arise from the ectoderm (ectodermal dysplasia) and leads to the signs and symptoms of scalp-ear-nipple syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/scalp-ear-nipple-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Scalp-ear-nipple syndrome?"},{"bodyHtml":"<p>Babies with scalp-ear-nipple syndrome are born with a condition called aplasia cutis congenita, which involves patchy abnormal areas (lesions) on the scalp. These lesions are firm, raised, hairless nodules that resemble open wounds or ulcers at birth, but that heal during childhood.</p><p>The external ears of people with scalp-ear-nipple syndrome may be small, cup-shaped, folded over, or otherwise mildly misshapen. Hearing is generally normal. Affected individuals also have nipples that are underdeveloped (hypothelia) or absent (athelia). In some cases the underlying breast tissue is absent as well (amastia).</p><p>Other features that can occur in this disorder include malformed and brittle fingernails and toenails (nail dystrophy), dental abnormalities including widely-spaced or missing teeth, fusion of the skin between some of the fingers and toes (cutaneous syndactyly), and kidney defects such as underdevelopment (hypoplasia) of one or both kidneys. Unusual facial features, including narrowed openings of the eyes (narrowed palpebral fissures), an increased distance between the inner corners of the eyes (telecanthus), a flat bridge of the nose, and nostrils that open to the front rather than downward (anteverted nares), can also occur in this disorder.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/scalp-ear-nipple-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"scalp-ear-nipple-syndrome","sourceDocuments":[{"name":"Scalp-ear-nipple syndrome","reviewed":"2017-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:51.862837+00:00","label":"Causes","pageSha256":"a75b2d946635fc22a304e4cc0f5e49c132334dbf24210afea33aceb1de9003d0","sourceUrl":"https://medlineplus.gov/genetics/condition/scalp-ear-nipple-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/scalp-ear-nipple-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":"Scalp-ear-nipple syndrome"},"schemaVersion":1}