{"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:0018160/OMIM:180200","label":"RETINOBLASTOMA","mondoId":"MONDO:0018160","onsetQualifier":null,"recordKeys":["1c8a1e9b6ef5ef52193c784fd311a350b9daaabbaa9e68c0893e21182374030c","2e120ee268ea52224d934fce8bd8d56b923083096cc71ba02a7e3d2d5aefbdc8","2fdc04ae556fa69962e78d991c5fab3aca927ed006e617157e19646de1ee708c","4c9dd13d4f36be015db954a3f0240e527df19434cf96e76f42a91a94b44b21a1","5ecc0d59bc11ec3b4d95e3f18f45e719d9550a1994fe65cf6f12c2b77c4f8c1f","8b5c4655a1ae09e8cee461309774ac45e2dfcd3855e6dd69a190e1aee89b3ccc","aa591052c8229517a190c108db017db48ccfb5c1f1c0f03f3111de8db97d2801","bd09e290a9ae1ca7566f9535ced5c05d21f5f13310a3790425783f6ffa8d5d13","d1c2b949bfb64228b39c8783fb45f1e6e9bb77ad920f8d0fee8ed8579e4ae64d","d7ac8f4953e928a57e26afdc1a608fe5233287d5447c2b3268408c7fb0212fef","ff075ea7f4c3651eed471413011599e24a996cdfd844ad3f555f94438fe1c022"],"recordQualifiers":{},"scopeLabel":"OMIM:180200","sourceIds":["OMIM:180200"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0008380/ORPHA:790","label":"Retinoblastoma","mondoId":"MONDO:0008380","onsetQualifier":null,"recordKeys":["0005283c05f68257ec90e369bb42292f75d69699cecb724936b3077e6c5ef013","05483827518399b20cc2502cb5e62ccfc94b2e9c8faaebd9f9d7e7a3d44f6b75","15531ac88df81849059029797e1ad1d0b5eb9abc8eeddb18c571c721b90ad76e","1587d8d4aabe3210e90dff1b50d9b1a0ff6160360bcc423d43fe2e7fe660bb1c","1c5397caa71fdbd9ec36cd68e4da0097c4c56e18b3d979b8d6995bb02f6eb1d9","1e3cf76cb91378a4569c8b2c7737f28470873397b71373650272310887f3f884","287d07de77b1a9a6fdd695d383918f9d6074dd591bbf05d088cf611db29f5452","2e3185e30701649052d1069061dc2cd716618123f304f43357980b87a4972a57","3761300941633dedd5228520ea4ee712c1c8dc05a72bc20cdf6ad9fa5b9f016d","3b6d09151a31364fcbd2df75aae4ffa141817f6710e5bd2bc4e75a1a21b9abce","3fcff14c8b99be40cd866b8dc8075e41e0917a9dc63ef2b78b78f0bc8828b436","52207b291b17fa9d40515499e1472b13cc72de99988202aa707122bcda9bef54","53e3c8c09c96a420f23a5eecd6a7daf6c3283903271fdfeca43a078afa4058e5","58ccb055e24a86e3dafdb948dd5cf08e84d3f25c88159d84c3b66f64b589759e","59a5dac3b83e771f46eabbca9c4653f1cebf4bccf13168fa74e11f4b9ead5b7d","7d2d80f2cc443aca21a596a195033945574e7e4646bc16ac0fe4a141cb057a3c","a95cb5aadeb24a7530dd250901ea4c96683cf9d4f389be54e9a0df0cb7cd1701","bb92eb0116f7d4babd12f958e6d781ea8f25bd399e25d9ef8c73fdc7bcdf1bb3","c38c6cebff29557586ce8b2cfc7c1f5eb5503663af31b116373f7c5dbba9cc3a","c53281977564069302a21da8adbb47743536432c13ad4dc2e2ad1be716f0df58","c9adaa3a4dc9148b228cc6da8bc4fb6632daf5892ecbed6069f572f661cb9014","ca895f8164d7bc00364e08fc473a5d813d5db849d6ac43bd7f7447494597d320","d3edf14523623194b60897d9f9728f10355fa80326988cc213d880e33d26ee0f","eddd82c90ee9c46c285300aa865beee4231d0ecf68e1f3242c8f0637567c72a3","efb5b93beb9e88e8d8b247860e7c4d9555f33b74391fda6b8ee7146115cc64da","f5ceafd9d843eb69ac69f450d2a309af9247a1c1a649ac12ba467d97f56dd47c","f6de539cd34ce915f828df9a95d262f46515af41c1bbff7809b6866d4efb4e0d"],"recordQualifiers":{},"scopeLabel":"ORPHA:790","sourceIds":["ORPHA:790"],"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:0018160/OMIM:180200","MONDO:0008380/ORPHA:790"],"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":38,"sourceGroups":{"omim":11,"orphanet":27,"published":0}},"features":[{"hpoId":"HP:0012372","label":"Abnormal eye morphology","primary":false},{"hpoId":"HP:0007703","label":"Abnormal retinal pigmentation","primary":false},{"hpoId":"HP:0100658","label":"Cellulitis","primary":false},{"hpoId":"HP:0000175","label":"Cleft palate","primary":false},{"hpoId":"HP:0012254","label":"Ewing sarcoma","primary":false},{"hpoId":"HP:0000501","label":"Glaucoma","primary":false},{"hpoId":"HP:0009733","label":"Glioma","primary":false},{"hpoId":"HP:0001100","label":"Heterochromia iridis","primary":false},{"hpoId":"HP:0011886","label":"Hyphema","primary":false},{"hpoId":"HP:0031615","label":"Hypopyon","primary":false},{"hpoId":"HP:0100243","label":"Leiomyosarcoma","primary":false},{"hpoId":"HP:0001909","label":"Leukemia","primary":false},{"hpoId":"HP:0000555","label":"Leukocoria","primary":false},{"hpoId":"HP:0002665","label":"Lymphoma","primary":false},{"hpoId":"HP:0002861","label":"Melanoma","primary":false},{"hpoId":"HP:0002669","label":"Osteosarcoma","primary":false},{"hpoId":"HP:0010799","label":"Pinealoma","primary":false},{"hpoId":"HP:0030408","label":"Pineoblastoma","primary":false},{"hpoId":"HP:0000520","label":"Proptosis","primary":false},{"hpoId":"HP:0025337","label":"Red eye","primary":false},{"hpoId":"HP:0007663","label":"Reduced visual acuity","primary":false},{"hpoId":"HP:0007862","label":"Retinal calcification","primary":false},{"hpoId":"HP:0009919","label":"Retinoblastoma","primary":false},{"hpoId":"HP:0002859","label":"Rhabdomyosarcoma","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0025244","label":"Sub-retinal pigment epithelium haemorrhage","primary":false},{"hpoId":"HP:0000554","label":"Uveitis","primary":false},{"hpoId":"HP:0007902","label":"Vitreous hemorrhage","primary":false},{"hpoId":"HP:0011531","label":"Vitritis","primary":false}],"ledeHtml":"Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color.","mondoId":"MONDO:0008380","records":[{"frequencyKind":"range","key":"0005283c05f68257ec90e369bb42292f75d69699cecb724936b3077e6c5ef013","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"05483827518399b20cc2502cb5e62ccfc94b2e9c8faaebd9f9d7e7a3d44f6b75","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011886","is_excluded":false,"label":"Hyphema","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"15531ac88df81849059029797e1ad1d0b5eb9abc8eeddb18c571c721b90ad76e","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001909","is_excluded":false,"label":"Leukemia","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1587d8d4aabe3210e90dff1b50d9b1a0ff6160360bcc423d43fe2e7fe660bb1c","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000555","is_excluded":false,"label":"Leukocoria","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1c5397caa71fdbd9ec36cd68e4da0097c4c56e18b3d979b8d6995bb02f6eb1d9","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100243","is_excluded":false,"label":"Leiomyosarcoma","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1c8a1e9b6ef5ef52193c784fd311a350b9daaabbaa9e68c0893e21182374030c","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:180200","disease_name":"RETINOBLASTOMA","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001909","is_excluded":false,"label":"Leukemia","onset_id":null,"reference":"OMIM:180200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1e3cf76cb91378a4569c8b2c7737f28470873397b71373650272310887f3f884","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0012254","is_excluded":false,"label":"Ewing sarcoma","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"287d07de77b1a9a6fdd695d383918f9d6074dd591bbf05d088cf611db29f5452","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001100","is_excluded":false,"label":"Heterochromia iridis","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2e120ee268ea52224d934fce8bd8d56b923083096cc71ba02a7e3d2d5aefbdc8","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:180200","disease_name":"RETINOBLASTOMA","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002669","is_excluded":false,"label":"Osteosarcoma","onset_id":null,"reference":"OMIM:180200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"2e3185e30701649052d1069061dc2cd716618123f304f43357980b87a4972a57","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0025244","is_excluded":false,"label":"Sub-retinal pigment epithelium haemorrhage","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2fdc04ae556fa69962e78d991c5fab3aca927ed006e617157e19646de1ee708c","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:180200","disease_name":"RETINOBLASTOMA","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007902","is_excluded":false,"label":"Vitreous hemorrhage","onset_id":null,"reference":"OMIM:180200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3761300941633dedd5228520ea4ee712c1c8dc05a72bc20cdf6ad9fa5b9f016d","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000520","is_excluded":false,"label":"Proptosis","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3b6d09151a31364fcbd2df75aae4ffa141817f6710e5bd2bc4e75a1a21b9abce","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000501","is_excluded":false,"label":"Glaucoma","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3fcff14c8b99be40cd866b8dc8075e41e0917a9dc63ef2b78b78f0bc8828b436","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007703","is_excluded":false,"label":"Abnormal retinal pigmentation","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4c9dd13d4f36be015db954a3f0240e527df19434cf96e76f42a91a94b44b21a1","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:180200","disease_name":"RETINOBLASTOMA","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011531","is_excluded":false,"label":"Vitritis","onset_id":null,"reference":"OMIM:180200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"52207b291b17fa9d40515499e1472b13cc72de99988202aa707122bcda9bef54","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002669","is_excluded":false,"label":"Osteosarcoma","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"53e3c8c09c96a420f23a5eecd6a7daf6c3283903271fdfeca43a078afa4058e5","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012372","is_excluded":false,"label":"Abnormal eye morphology","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"58ccb055e24a86e3dafdb948dd5cf08e84d3f25c88159d84c3b66f64b589759e","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0031615","is_excluded":false,"label":"Hypopyon","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"59a5dac3b83e771f46eabbca9c4653f1cebf4bccf13168fa74e11f4b9ead5b7d","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002861","is_excluded":false,"label":"Melanoma","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5ecc0d59bc11ec3b4d95e3f18f45e719d9550a1994fe65cf6f12c2b77c4f8c1f","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:180200","disease_name":"RETINOBLASTOMA","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009919","is_excluded":false,"label":"Retinoblastoma","onset_id":null,"reference":"OMIM:180200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7d2d80f2cc443aca21a596a195033945574e7e4646bc16ac0fe4a141cb057a3c","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8b5c4655a1ae09e8cee461309774ac45e2dfcd3855e6dd69a190e1aee89b3ccc","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:180200","disease_name":"RETINOBLASTOMA","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000555","is_excluded":false,"label":"Leukocoria","onset_id":null,"reference":"OMIM:180200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a95cb5aadeb24a7530dd250901ea4c96683cf9d4f389be54e9a0df0cb7cd1701","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040280","hpo_id":"HP:0009919","is_excluded":false,"label":"Retinoblastoma","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"aa591052c8229517a190c108db017db48ccfb5c1f1c0f03f3111de8db97d2801","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:180200","disease_name":"RETINOBLASTOMA","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0010799","is_excluded":false,"label":"Pinealoma","onset_id":null,"reference":"OMIM:180200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"bb92eb0116f7d4babd12f958e6d781ea8f25bd399e25d9ef8c73fdc7bcdf1bb3","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000554","is_excluded":false,"label":"Uveitis","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bd09e290a9ae1ca7566f9535ced5c05d21f5f13310a3790425783f6ffa8d5d13","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:180200","disease_name":"RETINOBLASTOMA","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007862","is_excluded":false,"label":"Retinal calcification","onset_id":null,"reference":"OMIM:180200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c38c6cebff29557586ce8b2cfc7c1f5eb5503663af31b116373f7c5dbba9cc3a","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007663","is_excluded":false,"label":"Reduced visual acuity","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c53281977564069302a21da8adbb47743536432c13ad4dc2e2ad1be716f0df58","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0025337","is_excluded":false,"label":"Red eye","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c9adaa3a4dc9148b228cc6da8bc4fb6632daf5892ecbed6069f572f661cb9014","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002859","is_excluded":false,"label":"Rhabdomyosarcoma","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ca895f8164d7bc00364e08fc473a5d813d5db849d6ac43bd7f7447494597d320","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002665","is_excluded":false,"label":"Lymphoma","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d1c2b949bfb64228b39c8783fb45f1e6e9bb77ad920f8d0fee8ed8579e4ae64d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:180200","disease_name":"RETINOBLASTOMA","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"OMIM:180200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d3edf14523623194b60897d9f9728f10355fa80326988cc213d880e33d26ee0f","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0030408","is_excluded":false,"label":"Pineoblastoma","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d7ac8f4953e928a57e26afdc1a608fe5233287d5447c2b3268408c7fb0212fef","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:180200","disease_name":"RETINOBLASTOMA","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002665","is_excluded":false,"label":"Lymphoma","onset_id":null,"reference":"OMIM:180200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"eddd82c90ee9c46c285300aa865beee4231d0ecf68e1f3242c8f0637567c72a3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100658","is_excluded":false,"label":"Cellulitis","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"efb5b93beb9e88e8d8b247860e7c4d9555f33b74391fda6b8ee7146115cc64da","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0009733","is_excluded":false,"label":"Glioma","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f5ceafd9d843eb69ac69f450d2a309af9247a1c1a649ac12ba467d97f56dd47c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007862","is_excluded":false,"label":"Retinal calcification","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f6de539cd34ce915f828df9a95d262f46515af41c1bbff7809b6866d4efb4e0d","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:790","disease_name":"Retinoblastoma","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007902","is_excluded":false,"label":"Vitreous hemorrhage","onset_id":null,"reference":"ORPHA:790","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ff075ea7f4c3651eed471413011599e24a996cdfd844ad3f555f94438fe1c022","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:180200","disease_name":"RETINOBLASTOMA","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0012254","is_excluded":false,"label":"Ewing sarcoma","onset_id":null,"reference":"OMIM:180200","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/retinoblastoma\">Retinoblastoma</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 RB1 gene are responsible for most cases of retinoblastoma. RB1 is a tumor suppressor gene, which means that it normally regulates cell growth and stops cells from dividing too rapidly or in an uncontrolled way. Most mutations in the RB1 gene prevent it from making any functional protein, so cells are unable to regulate cell division effectively. As a result, certain cells in the retina can divide uncontrollably to form a cancerous tumor. Some studies suggest that additional genetic changes can influence the development of retinoblastoma; these changes may help explain variations in the development and growth of retinoblastoma and other types of tumors in different people.</p><p>A small percentage of retinoblastomas are caused by deletions in the region of chromosome 13 that contains the RB1 gene. Because these chromosomal changes involve several genes in addition to RB1, affected children usually also have intellectual disability, slow growth, and distinctive facial features (such as prominent eyebrows, a short nose with a broad nasal bridge, and ear abnormalities).</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/retinoblastoma/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Retinoblastoma?"},{"bodyHtml":"<p>In children with retinoblastoma, the disease often affects only one eye. However, one out of three children with retinoblastoma develops cancer in both eyes. The most common first sign of retinoblastoma is a visible whiteness in the pupil called &quot;cat&#x27;s eye reflex&quot; or leukocoria. This unusual whiteness is particularly noticeable in dim light or in photographs taken with a flash. Other signs and symptoms of retinoblastoma include crossed eyes or eyes that do not point in the same direction (strabismus), which can cause squinting; a change in the color of the colored part of the eye (iris); redness, soreness, or swelling of the eyelids; and blindness or poor vision in the affected eye or eyes.</p><p>Retinoblastoma is often curable when it is diagnosed early. However, if it is not treated promptly, this cancer can spread beyond the eye to other parts of the body. This advanced form of retinoblastoma can be life-threatening.</p><p>When retinoblastoma is associated with a genetic change (mutation) that occurs in all of the body&#x27;s cells, it is known as hereditary (or germinal) retinoblastoma. People with this form of retinoblastoma typically develop cancer in both eyes and also have an increased risk of developing several other cancers outside the eye. Specifically, they are more likely to develop a cancer of the pineal gland in the brain (pineoblastoma), a type of bone cancer known as osteosarcoma, cancers of soft tissues (such as muscle) called soft tissue sarcomas, and an aggressive form of skin cancer called melanoma.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/retinoblastoma\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"retinoblastoma","sourceDocuments":[{"name":"Retinoblastoma","reviewed":"2009-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:43.559871+00:00","label":"Causes","pageSha256":"9e49895957108275d122fb4bcfd0f6bf3a86af2df454343063d3f4b3ee4127f6","sourceUrl":"https://medlineplus.gov/genetics/condition/retinoblastoma/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/retinoblastoma"}],"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":"Retinoblastoma"},"schemaVersion":1}