{"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:0008209/OMIM:169100","label":"Char syndrome","mondoId":"MONDO:0008209","onsetQualifier":null,"recordKeys":["0f9d05f58988f5bc22de679d648d42f62f7bc6968d7ba6b491f816789faa0e7b","13c2720b6cfd6c8c4045a50851af26d683fd74b9dddf25b7cf7b24fd50f7f2ee","2e2f534cbe98e3bfe5ea9b9cd98dae562398bedecfe3711bdc90d8e4ad22d4bc","3aadfec2df934527b533525ca3030dcfafb5647ffef98471532db0a9b7d12ac9","3ed6cc78f83406e55f5106267cfbb65adedeb02e48aa8d5096305940d27e009a","47534c00404e0d988751d113f1a71e702fdf2dc9c7b16ca876f87c4c35ee6455","574c7734baec32bd94af65a46744607cc6c881e7d61a7b0f8d881b23a69ddcb4","5db37efcf8fb5508a231dbe699b605776c6b96b58488224f6becb113bc2d8354","797382dd70c3eb542211d36dc74207af2adbf5cf4a3d173752c712922718fc7a","7b53760d2ddb8c6a303151325869fc5cfede41b4ef609dc0b6ff4558b78d17a7","81a86adb5f5c98576ac2d95f6f523a624c53b209165d1bac9f3d28f55701b360","83b442334961fd6992e5811120eeab2f535432e71ca33d6c5473bd3e15db075b","89d3b8bcfe3bbba06113b39f65a73436e70e70c1a1599d50112c68e03f4dbea0","b4599627fb55b5acd7f946e71d6d1cd629c32ad5dea3251e4b89fc6ba508aa6d","ca32a49f8fc57d776fcd4f5183214c37db3b2345f6733394e506938dafb24f25","d7984041c6f16885a6eaaeee26e94dbd79cc39b7bc689a4da52eefe4ccf1dfba","e2689630971756a7efbaaeaea783d16e5fc974da8c8726f74dd6ede14248052e"],"recordQualifiers":{},"scopeLabel":"OMIM:169100","sourceIds":["OMIM:169100"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0008209/ORPHA:46627","label":"Char syndrome","mondoId":"MONDO:0008209","onsetQualifier":null,"recordKeys":["14bb7a8457246db842ffbb9762ebe8c975c19be794aa4561feee17419f4a8f05","22a69fe7fdd7c6dff6eda67bd3ce400278c73655893e3136bdb9587db730f710","2521cca1d9c42d4a30582a35b3c7892a353774a010845f51b11bd9fa4028bedb","2bc5cf50d2c598f7406376ca87daa29df8981f8d90749b32693e51117bca53fe","3a75fde63e33659273dd308c7ab58a29bb602fca563a48f544fd7d8b3ccb54b7","48c80b5c560829cb37afc6920bcfd30927aaccaf3982b1e8955bff2f8b420d5c","4e09a1763ef9cbd1416a5694199d569b65311cf7c82ad987d1a69bc30ab628b2","4ea33b2a8292819137af9c16c0073e0c3e4bf48708315896498fad3bf62a2deb","576fd09319506bb5ce10dbd463131ae8d6348d60a7b3d63632f54beeb5f0d6c9","59e18cad9a4e82f48775aaf5c20c2c6340fba7457002e971756d81b766797713","6eb4c8a6e84897a03bb1e00fdeaf93fc4a4c5e17c1722c2036490ac8054fd663","7e64728674c7099d4af8967c72fab9b67846fb4dd86432b58c0805c67bc25cf4","8209803298276645943bd12aa4a277049bde50b6f73aba1ec792de0babd4fcc0","88068f871085d2263f914e371c83c1ab398d3074c35a039d4489f4b44e437573","95ffe1fa29fe8270b4679a2a2eb279cebdfd6876f75005848520b5f0e11642ae","9905f1c4b00c8613cab3fbee20acf1ba78a42b799fa8f0b5fa7c5ae0350a1c20","9c7fcac655eea37aba831ffc082f84eadc3f0a26c609a3fb5cbfa4b7b28b0098","9dc2eeecf67aff24eab077bd7de92cef40095f6b6af4516116c3208148214b96","bc755428a21c4cd464f4cf3c2b4f8b1ee1409788c47a8a1c71effc7ad9f910a1","c1cd8207d16d8b0680d6ab5965aed38a27fc811c60aeeb8560bbe293802b2839","c4459d658b4894fb93f5c862728d1fffa5903ca38e899a0eb8dd828154ee8ad7","c546d38c92db58a15c4e13bf02493b749b688dc6be9c497af12ee65cc4f592eb","d90a8ef6b1899eec4da544e881ecbbf4da68e896c8cb5bfadfd71c379670b996","e9d5c575a507cea951a5ca13e3e248f3a5d57481855d4d34f5f8caaaaa650c4b","f83032236a3407b7f8de6865fe5ae725e9895fd824c1d5bf387393ca526fed74","f9e39075be84da282ebeaecd5e4061d842ee5ee77ac6982e68c83485e5c33417","fbf7f4c52d582f0da2a5004aa41dcd456c40f967ee3ddc2ac83c67ce6d977c8c","fd053fb7de392d18da85441509d782be5b217260a7f3f9baac2e995c0e83912c"],"recordQualifiers":{},"scopeLabel":"ORPHA:46627","sourceIds":["ORPHA:46627"],"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:0008209/OMIM:169100","MONDO:0008209/ORPHA:46627"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":45,"sourceGroups":{"omim":17,"orphanet":28,"published":0}},"features":[{"hpoId":"HP:0006349","label":"Agenesis of permanent teeth","primary":false},{"hpoId":"HP:0000337","label":"Broad forehead","primary":false},{"hpoId":"HP:0000455","label":"Broad nasal tip","primary":false},{"hpoId":"HP:0004209","label":"Clinodactyly of the 5th finger","primary":false},{"hpoId":"HP:0005280","label":"Depressed nasal bridge","primary":false},{"hpoId":"HP:0000457","label":"Depressed nasal ridge","primary":false},{"hpoId":"HP:0009244","label":"Distal fifth finger symphalangism","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0000232","label":"Everted lower lip vermilion","primary":false},{"hpoId":"HP:0004218","label":"Fifth finger symphalangism","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001161","label":"Hand polydactyly","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0002553","label":"Highly arched eyebrow","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0000272","label":"Malar flattening","primary":false},{"hpoId":"HP:0010112","label":"Mesoaxial foot polydactyly","primary":false},{"hpoId":"HP:0006159","label":"Mesoaxial hand polydactyly","primary":false},{"hpoId":"HP:0001256","label":"Mild intellectual disability","primary":false},{"hpoId":"HP:0000545","label":"Nearsightedness","primary":false},{"hpoId":"HP:0025234","label":"Parasomnia","primary":false},{"hpoId":"HP:0001643","label":"Patent ductus arteriosus","primary":false},{"hpoId":"HP:0006335","label":"Persistence of primary teeth","primary":false},{"hpoId":"HP:0000269","label":"Prominent occiput","primary":false},{"hpoId":"HP:0000411","label":"Protruding ear","primary":false},{"hpoId":"HP:0000508","label":"Ptosis","primary":false},{"hpoId":"HP:0004220","label":"Short middle phalanx of the 5th finger","primary":false},{"hpoId":"HP:0000322","label":"Short philtrum","primary":false},{"hpoId":"HP:0002360","label":"Sleep disturbance","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0002558","label":"Supernumerary nipple","primary":false},{"hpoId":"HP:0000574","label":"Thick eyebrow","primary":false},{"hpoId":"HP:0012471","label":"Thick vermilion border","primary":false},{"hpoId":"HP:0001770","label":"Toe syndactyly","primary":false},{"hpoId":"HP:0000207","label":"Triangular mouth","primary":false},{"hpoId":"HP:0001629","label":"Ventricular septal defect","primary":false}],"ledeHtml":"Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities.","mondoId":"MONDO:0008209","records":[{"frequencyKind":"reported","key":"0f9d05f58988f5bc22de679d648d42f62f7bc6968d7ba6b491f816789faa0e7b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000337","is_excluded":false,"label":"Broad forehead","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"13c2720b6cfd6c8c4045a50851af26d683fd74b9dddf25b7cf7b24fd50f7f2ee","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"14bb7a8457246db842ffbb9762ebe8c975c19be794aa4561feee17419f4a8f05","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"22a69fe7fdd7c6dff6eda67bd3ce400278c73655893e3136bdb9587db730f710","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000457","is_excluded":false,"label":"Depressed nasal ridge","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2521cca1d9c42d4a30582a35b3c7892a353774a010845f51b11bd9fa4028bedb","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000508","is_excluded":false,"label":"Ptosis","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2bc5cf50d2c598f7406376ca87daa29df8981f8d90749b32693e51117bca53fe","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000545","is_excluded":false,"label":"Myopia","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2e2f534cbe98e3bfe5ea9b9cd98dae562398bedecfe3711bdc90d8e4ad22d4bc","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3a75fde63e33659273dd308c7ab58a29bb602fca563a48f544fd7d8b3ccb54b7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004220","is_excluded":false,"label":"Short middle phalanx of the 5th finger","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3aadfec2df934527b533525ca3030dcfafb5647ffef98471532db0a9b7d12ac9","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000411","is_excluded":false,"label":"Protruding ear","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"3ed6cc78f83406e55f5106267cfbb65adedeb02e48aa8d5096305940d27e009a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000207","is_excluded":false,"label":"Triangular mouth","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"47534c00404e0d988751d113f1a71e702fdf2dc9c7b16ca876f87c4c35ee6455","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000574","is_excluded":false,"label":"Thick eyebrow","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"48c80b5c560829cb37afc6920bcfd30927aaccaf3982b1e8955bff2f8b420d5c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4e09a1763ef9cbd1416a5694199d569b65311cf7c82ad987d1a69bc30ab628b2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002360","is_excluded":false,"label":"Sleep disturbance","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4ea33b2a8292819137af9c16c0073e0c3e4bf48708315896498fad3bf62a2deb","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001643","is_excluded":false,"label":"Patent ductus arteriosus","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"574c7734baec32bd94af65a46744607cc6c881e7d61a7b0f8d881b23a69ddcb4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0009244","is_excluded":false,"label":"Distal fifth finger symphalangism","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"576fd09319506bb5ce10dbd463131ae8d6348d60a7b3d63632f54beeb5f0d6c9","raw":{"aspect":"P","body_system":"breast","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002558","is_excluded":false,"label":"Supernumerary nipple","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"59e18cad9a4e82f48775aaf5c20c2c6340fba7457002e971756d81b766797713","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006349","is_excluded":false,"label":"Agenesis of permanent teeth","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5db37efcf8fb5508a231dbe699b605776c6b96b58488224f6becb113bc2d8354","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002553","is_excluded":false,"label":"Highly arched eyebrow","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"6eb4c8a6e84897a03bb1e00fdeaf93fc4a4c5e17c1722c2036490ac8054fd663","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"797382dd70c3eb542211d36dc74207af2adbf5cf4a3d173752c712922718fc7a","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000508","is_excluded":false,"label":"Ptosis","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7b53760d2ddb8c6a303151325869fc5cfede41b4ef609dc0b6ff4558b78d17a7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000322","is_excluded":false,"label":"Short philtrum","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7e64728674c7099d4af8967c72fab9b67846fb4dd86432b58c0805c67bc25cf4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004218","is_excluded":false,"label":"Fifth finger symphalangism","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"81a86adb5f5c98576ac2d95f6f523a624c53b209165d1bac9f3d28f55701b360","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000455","is_excluded":false,"label":"Broad nasal tip","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8209803298276645943bd12aa4a277049bde50b6f73aba1ec792de0babd4fcc0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0006159","is_excluded":false,"label":"Mesoaxial hand polydactyly","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"83b442334961fd6992e5811120eeab2f535432e71ca33d6c5473bd3e15db075b","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"88068f871085d2263f914e371c83c1ab398d3074c35a039d4489f4b44e437573","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006335","is_excluded":false,"label":"Persistence of primary teeth","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"89d3b8bcfe3bbba06113b39f65a73436e70e70c1a1599d50112c68e03f4dbea0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"95ffe1fa29fe8270b4679a2a2eb279cebdfd6876f75005848520b5f0e11642ae","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000207","is_excluded":false,"label":"Triangular mouth","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9905f1c4b00c8613cab3fbee20acf1ba78a42b799fa8f0b5fa7c5ae0350a1c20","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000269","is_excluded":false,"label":"Prominent occiput","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9c7fcac655eea37aba831ffc082f84eadc3f0a26c609a3fb5cbfa4b7b28b0098","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001629","is_excluded":false,"label":"Ventricular septal defect","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9dc2eeecf67aff24eab077bd7de92cef40095f6b6af4516116c3208148214b96","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012471","is_excluded":false,"label":"Thick vermilion border","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b4599627fb55b5acd7f946e71d6d1cd629c32ad5dea3251e4b89fc6ba508aa6d","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001643","is_excluded":false,"label":"Patent ductus arteriosus","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"bc755428a21c4cd464f4cf3c2b4f8b1ee1409788c47a8a1c71effc7ad9f910a1","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000322","is_excluded":false,"label":"Short philtrum","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c1cd8207d16d8b0680d6ab5965aed38a27fc811c60aeeb8560bbe293802b2839","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000232","is_excluded":false,"label":"Everted lower lip vermilion","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c4459d658b4894fb93f5c862728d1fffa5903ca38e899a0eb8dd828154ee8ad7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000272","is_excluded":false,"label":"Malar flattening","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c546d38c92db58a15c4e13bf02493b749b688dc6be9c497af12ee65cc4f592eb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001770","is_excluded":false,"label":"Toe syndactyly","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ca32a49f8fc57d776fcd4f5183214c37db3b2345f6733394e506938dafb24f25","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001256","is_excluded":false,"label":"Mild intellectual disability","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d7984041c6f16885a6eaaeee26e94dbd79cc39b7bc689a4da52eefe4ccf1dfba","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d90a8ef6b1899eec4da544e881ecbbf4da68e896c8cb5bfadfd71c379670b996","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e2689630971756a7efbaaeaea783d16e5fc974da8c8726f74dd6ede14248052e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:169100","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0025234","is_excluded":false,"label":"Parasomnia","onset_id":null,"reference":"OMIM:169100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e9d5c575a507cea951a5ca13e3e248f3a5d57481855d4d34f5f8caaaaa650c4b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f83032236a3407b7f8de6865fe5ae725e9895fd824c1d5bf387393ca526fed74","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010112","is_excluded":false,"label":"Mesoaxial foot polydactyly","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f9e39075be84da282ebeaecd5e4061d842ee5ee77ac6982e68c83485e5c33417","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001161","is_excluded":false,"label":"Hand polydactyly","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fbf7f4c52d582f0da2a5004aa41dcd456c40f967ee3ddc2ac83c67ce6d977c8c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fd053fb7de392d18da85441509d782be5b217260a7f3f9baac2e995c0e83912c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:46627","disease_name":"Char syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"ORPHA:46627","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/char-syndrome\">Char syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also known as mutations) in the TFAP2B gene cause Char syndrome. This gene provides instructions for making a protein known as transcription factor AP-2β. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2β regulates genes that are involved in development before birth. In particular, this protein appears to play a role in the normal formation of structures in the face, heart, and limbs.</p><p>TFAP2B variants alter the structure of transcription factor AP-2β. Some of these variants prevent the protein from binding to DNA, while other variants render it unable to regulate the activity of other genes. A loss of this protein&#x27;s function disrupts the normal development of several parts of the body before birth, resulting in the major features of Char syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/char-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Char syndrome?"},{"bodyHtml":"<p>Most people with Char syndrome have a characteristic facial appearance that includes flattened cheek bones and a flat nasal bridge (the area of the nose between the eyes). The tip of the nose is also flat and broad. The eyes are wide-set with droopy eyelids (ptosis) and outside corners that point downward (down-slanting palpebral fissures). Additional facial differences include a shortened distance between the nose and upper lip (a short philtrum), a triangular-shaped mouth, and thick, prominent lips.</p><p>Patent ductus arteriosus is a common heart defect in newborns, and it occurs in most babies with Char syndrome. Before birth, the ductus arteriosus forms a connection between two major arteries (the aorta and the pulmonary artery). This connection normally closes shortly after birth, but it remains open in babies with patent ductus arteriosus. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly. In severe cases, it can lead to heart failure. People with patent ductus arteriosus also have an increased risk of infection.</p><p>Hand abnormalities are another feature of Char syndrome. In most people with this condition, the middle section of the fifth (pinky) finger is shortened or absent. Other abnormalities of the hands and feet have been reported but are less common.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/char-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"char-syndrome","sourceDocuments":[{"name":"Char syndrome","reviewed":"2022-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:11.763654+00:00","label":"Causes","pageSha256":"324ed4c915a22b60329d4f37178cac14f1e9b941ec56fed4cccfa995f72db8e7","sourceUrl":"https://medlineplus.gov/genetics/condition/char-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/char-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":"Char syndrome"},"schemaVersion":1}