{"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:0009955/OMIM:266280","label":"RAPADILINO syndrome","mondoId":"MONDO:0009955","onsetQualifier":null,"recordKeys":["12c277b4e08b1f80b6db7632f6d36d0e6caa0fbfd651fb421e1ad7d14720dbcc","1b0ebe27fc93254248e9fd3916fde5e0f0cc3d0b6d9b7c38d3d53b55bd45264c","2a912902e9fdf046f427507ed75e5eccde15427b09358fb560e87c0a90a3be02","2cbbacb513877d61d8cb64192891c7fd512411837f16070b10c71acb2748932f","35810e0bb4851ef9905d59e99e434ee65526d7f000308f895606ef2b4abd9b19","401e5ec0f17d096d701127596feeba181fa8f2d681b101d4d35f21be632c8d1c","4a0a35675634d17c5dbff0ebcc29b08c6e0f5bc054ea6070d783500bd80d5a53","5c579fad973b08f734d90724c466dae3a55fc24d552d157c684e25e0b9e6b1e8","5ce311f5f8338faa0e0d00a4d553b85ab71e7f6a5eb6dcc0712e2641eca35d4b","8658348377c2bfc107244f80ec9833611f3fd6356b427a0ae41e986333d20197","8dfa4fe7f46f6f89b71b33f6ae090ba6417794441445c0421c5472de96a98cb6","a12a7e0105e2553d2fb5a6b5bd1b20890606777c0a509fff3834d83ec1b14b01","a31844ebfba84d267d99c6c919fddea3eeb4e1e9aaa44c31ccbc44a140cbdf76","bae8e8364165026606b0cc455d37f509ff0da1baae9f95ac40b8ad5c219d9f75","bbb670de8a76754576a4c71f0421ea4bb35ce5e2783655acc39c2d748803e271","c0953f7e763681027ad20ea678e8c56bd189f122b2bc9a2a63464a079659f2a0","d16b2400a9b7e9c3683ecd5c64bc3ea3b0e645e7de41952cda19cd3c9bb465e8","e2bb307cffd065c5843225c59998f17af14398dd23bea738e853caf821edc223","e2daca182ca536c764e67e29cc04234a8eb4d411463833540b29aaf149586df5","e5bdaf2036d495c350dad04a3f5b8e887bbd99734de94d415c2cb2d80fbcc35c","e84cafb779986698003296cf8eedb4fc316317337c52e5f450f1afc1ba268060","f1c64087be53a08c45e43a93eedff986dcbf23246a1df406a3bb78195eb0d0fc","fef810920da892832b16dd6a7cea556d32b0a0f75c9ae9a230273e52d01fd9f5"],"recordQualifiers":{},"scopeLabel":"OMIM:266280","sourceIds":["OMIM:266280"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0009955/ORPHA:3021","label":"RAPADILINO syndrome","mondoId":"MONDO:0009955","onsetQualifier":null,"recordKeys":["0df4fb3713c3be593bc691c93db9c0611a2f370956d3b0c3cf6c310c5af6089c","1cae10f163b2e7ec798198adcb3df7b6e420ccfe8873f79b9de0f5f48e978cee","3c127271ee4e60d14b0f16c928103167695303317ff700b8743ee8f3af5da372","3d3d0525cebe5344c1ea631d8b6e85a73cd4f6d74c6b056593c9b3331d6884a0","5e6f3d186586ec759ad14e82cbc83a4d04c005858dd175704f7207276d5c33d4","7472d84d5f9fa1162d9d9e89f9506266a34494781926d2068cd9dba90a4521c9","7f061ec65cb1b2a8eb2a3ad4c60bdca75c6ed307ad5608f1148ce37b800ecd3f","800677ef7cd3513672a42e3c95f835735fed4f70f051eb1e95672e0b4887c94b","80d7d112dc20f39509c8a307002c64e47d9b132b64a3f20e8a135aad8258025f","8175e56d60b2935da3db7b0327cdbac28db905e0a7af2faf5e8548cb31cddc7d","8e158e5c5b787af27726e0a604fb8c5447d57fc7123e60a36e9ddd00943de6c9","95ddef7fdf2639311ad2b899d5c401bf2a272b837ad7e1cf1386931197a3bb78","aa3218dbeb7020b2c10b01f205d765d2e03bdf7d8b8ef7edf5778efa03a22f31","b5a0f181b2967c78f07e15b44fff127ab914eba1653d8ad4eeb4eb6f4728db03","fd383be9de26712dfefa835841dbd1499e83d4c276de2a117d73ddcc8d130b92"],"recordQualifiers":{},"scopeLabel":"ORPHA:3021","sourceIds":["ORPHA:3021"],"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:0009955/OMIM:266280","MONDO:0009955/ORPHA:3021"],"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":11,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":38,"sourceGroups":{"omim":11,"orphanet":15,"published":12}},"features":[{"hpoId":"HP:0040064","label":"Abnormality of limbs","primary":false},{"hpoId":"HP:0009777","label":"Absent thumb","primary":false},{"hpoId":"HP:0006498","label":"Aplasia/Hypoplasia of the patella","primary":false},{"hpoId":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","primary":false},{"hpoId":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","primary":false},{"hpoId":"HP:0000581","label":"Blepharophimosis","primary":false},{"hpoId":"HP:0000175","label":"Cleft palate","primary":false},{"hpoId":"HP:0004313","label":"Decreased circulating immunoglobulin concentration","primary":false},{"hpoId":"HP:0005403","label":"Decreased total T cell count","primary":false},{"hpoId":"HP:0002014","label":"Diarrhea","primary":false},{"hpoId":"HP:0011968","label":"Feeding difficulties","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0000218","label":"High palate","primary":false},{"hpoId":"HP:0002705","label":"High, narrow palate","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001511","label":"Intrauterine growth retardation","primary":false},{"hpoId":"HP:0001373","label":"Joint dislocation","primary":false},{"hpoId":"HP:0000276","label":"Long face","primary":false},{"hpoId":"HP:0001256","label":"Mild intellectual disability","primary":false},{"hpoId":"HP:0001070","label":"Mottled pigmentation","primary":false},{"hpoId":"HP:0045025","label":"Narrow palpebral fissure","primary":false},{"hpoId":"HP:0001029","label":"Poikiloderma","primary":false},{"hpoId":"HP:0008897","label":"Postnatal growth retardation","primary":false},{"hpoId":"HP:0000331","label":"Short chin","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0000417","label":"Slender nose","primary":false},{"hpoId":"HP:0045075","label":"Sparse eyebrow","primary":false},{"hpoId":"HP:0000653","label":"Sparse eyelashes","primary":false},{"hpoId":"HP:0002209","label":"Sparse scalp hair","primary":false},{"hpoId":"HP:0005198","label":"Stiff interphalangeal joints","primary":false}],"ledeHtml":"RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition.","mondoId":"MONDO:0009955","records":[{"frequencyKind":"reported","key":"0df4fb3713c3be593bc691c93db9c0611a2f370956d3b0c3cf6c310c5af6089c","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:3021","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001029","is_excluded":true,"label":"Poikiloderma","onset_id":null,"reference":"ORPHA:3021","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"12c277b4e08b1f80b6db7632f6d36d0e6caa0fbfd651fb421e1ad7d14720dbcc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0045025","is_excluded":false,"label":"Narrow palpebral fissure","onset_id":null,"reference":"OMIM:266280","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1b0ebe27fc93254248e9fd3916fde5e0f0cc3d0b6d9b7c38d3d53b55bd45264c","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"PCS","frequency_raw":"0/13","hpo_id":"HP:0045075","is_excluded":true,"label":"Sparse eyebrow","onset_id":null,"reference":"PMID:12952869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1cae10f163b2e7ec798198adcb3df7b6e420ccfe8873f79b9de0f5f48e978cee","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3021","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0006501","is_excluded":false,"label":"Aplasia/Hypoplasia of the radius","onset_id":null,"reference":"ORPHA:3021","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2a912902e9fdf046f427507ed75e5eccde15427b09358fb560e87c0a90a3be02","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0009777","is_excluded":false,"label":"Absent thumb","onset_id":null,"reference":"PMID:12952869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2cbbacb513877d61d8cb64192891c7fd512411837f16070b10c71acb2748932f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005198","is_excluded":false,"label":"Stiff interphalangeal joints","onset_id":null,"reference":"OMIM:266280","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"35810e0bb4851ef9905d59e99e434ee65526d7f000308f895606ef2b4abd9b19","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"OMIM:266280","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3c127271ee4e60d14b0f16c928103167695303317ff700b8743ee8f3af5da372","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3021","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0040064","is_excluded":false,"label":"Abnormality of limbs","onset_id":null,"reference":"ORPHA:3021","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3d3d0525cebe5344c1ea631d8b6e85a73cd4f6d74c6b056593c9b3331d6884a0","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:3021","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008897","is_excluded":false,"label":"Postnatal growth retardation","onset_id":null,"reference":"ORPHA:3021","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"401e5ec0f17d096d701127596feeba181fa8f2d681b101d4d35f21be632c8d1c","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"PCS","frequency_raw":"0/13","hpo_id":"HP:0000653","is_excluded":true,"label":"Sparse eyelashes","onset_id":null,"reference":"PMID:12952869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4a0a35675634d17c5dbff0ebcc29b08c6e0f5bc054ea6070d783500bd80d5a53","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"PCS","frequency_raw":"0/14","hpo_id":"HP:0001029","is_excluded":true,"label":"Poikiloderma","onset_id":null,"reference":"PMID:12952869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"5c579fad973b08f734d90724c466dae3a55fc24d552d157c684e25e0b9e6b1e8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"OMIM:266280","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"5ce311f5f8338faa0e0d00a4d553b85ab71e7f6a5eb6dcc0712e2641eca35d4b","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"PCS","frequency_raw":"22/24","hpo_id":"HP:0002014","is_excluded":false,"label":"Diarrhea","onset_id":null,"reference":"OMIM:266280;PMID:12952869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5e6f3d186586ec759ad14e82cbc83a4d04c005858dd175704f7207276d5c33d4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3021","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0006498","is_excluded":false,"label":"Aplasia/Hypoplasia of the patella","onset_id":null,"reference":"ORPHA:3021","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7472d84d5f9fa1162d9d9e89f9506266a34494781926d2068cd9dba90a4521c9","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:3021","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002014","is_excluded":false,"label":"Diarrhea","onset_id":null,"reference":"ORPHA:3021","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7f061ec65cb1b2a8eb2a3ad4c60bdca75c6ed307ad5608f1148ce37b800ecd3f","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:3021","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004313","is_excluded":false,"label":"Decreased circulating immunoglobulin concentration","onset_id":null,"reference":"ORPHA:3021","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"800677ef7cd3513672a42e3c95f835735fed4f70f051eb1e95672e0b4887c94b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3021","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000417","is_excluded":false,"label":"Slender nose","onset_id":null,"reference":"ORPHA:3021","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"80d7d112dc20f39509c8a307002c64e47d9b132b64a3f20e8a135aad8258025f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3021","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"ORPHA:3021","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8175e56d60b2935da3db7b0327cdbac28db905e0a7af2faf5e8548cb31cddc7d","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:3021","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"ORPHA:3021","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8658348377c2bfc107244f80ec9833611f3fd6356b427a0ae41e986333d20197","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001070","is_excluded":false,"label":"Mottled pigmentation","onset_id":null,"reference":"OMIM:266280","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8dfa4fe7f46f6f89b71b33f6ae090ba6417794441445c0421c5472de96a98cb6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000331","is_excluded":false,"label":"Short chin","onset_id":null,"reference":"OMIM:266280","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8e158e5c5b787af27726e0a604fb8c5447d57fc7123e60a36e9ddd00943de6c9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3021","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0009601","is_excluded":false,"label":"Aplasia/Hypoplasia of the thumb","onset_id":null,"reference":"ORPHA:3021","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"95ddef7fdf2639311ad2b899d5c401bf2a272b837ad7e1cf1386931197a3bb78","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3021","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":true,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:3021","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a12a7e0105e2553d2fb5a6b5bd1b20890606777c0a509fff3834d83ec1b14b01","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"PCS","frequency_raw":"14/14","hpo_id":"HP:0006501","is_excluded":false,"label":"Aplasia/Hypoplasia of the radius","onset_id":null,"reference":"PMID:12952869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a31844ebfba84d267d99c6c919fddea3eeb4e1e9aaa44c31ccbc44a140cbdf76","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"PCS","frequency_raw":"0/14","hpo_id":"HP:0002209","is_excluded":true,"label":"Sparse scalp hair","onset_id":null,"reference":"PMID:12952869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"aa3218dbeb7020b2c10b01f205d765d2e03bdf7d8b8ef7edf5778efa03a22f31","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:3021","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"ORPHA:3021","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b5a0f181b2967c78f07e15b44fff127ab914eba1653d8ad4eeb4eb6f4728db03","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:3021","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005403","is_excluded":false,"label":"Decreased total T cell count","onset_id":null,"reference":"ORPHA:3021","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"bae8e8364165026606b0cc455d37f509ff0da1baae9f95ac40b8ad5c219d9f75","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"PCS","frequency_raw":"2/14","hpo_id":"HP:0001256","is_excluded":false,"label":"Mild intellectual disability","onset_id":null,"reference":"PMID:12952869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"bbb670de8a76754576a4c71f0421ea4bb35ce5e2783655acc39c2d748803e271","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"PCS","frequency_raw":"12/14","hpo_id":"HP:0006498","is_excluded":false,"label":"Aplasia/Hypoplasia of the patella","onset_id":null,"reference":"PMID:12952869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c0953f7e763681027ad20ea678e8c56bd189f122b2bc9a2a63464a079659f2a0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002705","is_excluded":false,"label":"High, narrow palate","onset_id":null,"reference":"OMIM:266280","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d16b2400a9b7e9c3683ecd5c64bc3ea3b0e645e7de41952cda19cd3c9bb465e8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000581","is_excluded":false,"label":"Blepharophimosis","onset_id":null,"reference":"OMIM:266280","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e2bb307cffd065c5843225c59998f17af14398dd23bea738e853caf821edc223","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000276","is_excluded":false,"label":"Long face","onset_id":null,"reference":"OMIM:266280","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"e2daca182ca536c764e67e29cc04234a8eb4d411463833540b29aaf149586df5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"PCS","frequency_raw":"8/14","hpo_id":"HP:0001373","is_excluded":false,"label":"Joint dislocation","onset_id":null,"reference":"PMID:12952869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e5bdaf2036d495c350dad04a3f5b8e887bbd99734de94d415c2cb2d80fbcc35c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"OMIM:266280","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"e84cafb779986698003296cf8eedb4fc316317337c52e5f450f1afc1ba268060","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"PCS","frequency_raw":"13/14","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"PMID:12952869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f1c64087be53a08c45e43a93eedff986dcbf23246a1df406a3bb78195eb0d0fc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000417","is_excluded":false,"label":"Slender nose","onset_id":null,"reference":"OMIM:266280","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fd383be9de26712dfefa835841dbd1499e83d4c276de2a117d73ddcc8d130b92","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3021","disease_name":"RAPADILINO syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"ORPHA:3021","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fef810920da892832b16dd6a7cea556d32b0a0f75c9ae9a230273e52d01fd9f5","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:266280","disease_name":"RAPADILINO syndrome","evidence":"PCS","frequency_raw":"12/14","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"PMID:12952869","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/rapadilino-syndrome\">RAPADILINO 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>Mutations in the RECQL4 gene cause RAPADILINO syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division and for repairing damaged DNA. The RECQL4 protein helps stabilize genetic information in the body&#x27;s cells and plays a role in replicating and repairing DNA.</p><p>The most common RECQL4 gene mutation involved in RAPADILINO syndrome causes the RECQL4 protein to be pieced together incorrectly. This genetic change results in the production of a protein that is missing a region called exon 7 and is unable to act as a helicase. The loss of helicase function may prevent normal DNA replication and repair, causing widespread damage to a person&#x27;s genetic information over time. These changes may result in the accumulation of DNA errors and cell death, although it is unclear exactly how RECQL4 gene mutations lead to the specific features of RAPADILINO syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/rapadilino-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes RAPADILINO syndrome?"},{"bodyHtml":"<p>Most affected individuals have underdevelopment or absence of the bones in the forearms and the thumbs, which are known as radial ray malformations. The kneecaps (patellae) can also be underdeveloped or absent. Other features include an opening in the roof of the mouth (cleft palate) or a high arched palate; a long, slender nose; and dislocated joints.</p><p>Many infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. The combination of impaired bone development and feeding problems leads to slow growth and short stature in affected individuals.</p><p>Some individuals with RAPADILINO syndrome have harmless light brown patches of skin that resemble a skin finding known as café-au-lait spots. In addition, people with RAPADILINO syndrome have a slightly increased risk of developing a type of bone cancer known as osteosarcoma or a blood-related cancer called lymphoma. In individuals with RAPADILINO syndrome, osteosarcoma most often develops during childhood or adolescence, and lymphoma typically develops in young adulthood.</p><p>The condition name is an acronym for the characteristic features of the disorder: RA for radial ray malformations, PA for patella and palate abnormalities, DI for diarrhea and dislocated joints, LI for limb abnormalities and little size, and NO for slender nose and normal intelligence.</p><p>The varied signs and symptoms of RAPADILINO syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and Rothmund-Thomson syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/rapadilino-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"rapadilino-syndrome","sourceDocuments":[{"name":"RAPADILINO syndrome","reviewed":"2013-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:38.439799+00:00","label":"Causes","pageSha256":"0332fe6c0ed9ba3804e592b07b801ff4de03be251e3c3765ff63b6e356fab63a","sourceUrl":"https://medlineplus.gov/genetics/condition/rapadilino-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/rapadilino-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":"RAPADILINO syndrome"},"schemaVersion":1}