{"Name":"Bilateral retinoblastoma","DiseaseID__c":"GARD:0023354","id":23354,"encodedName":"bilateral-retinoblastoma","IsDeleted":false,"Disease_Name_Full__c":"Bilateral retinoblastoma","Xref_IDs__c":"423022370; C0854914; C8713; DOID:4650; MEDGEN:163163; MONDO:0003075","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0003075","Disease_Description__c":"Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well.","GARD_Name__c":"Bilateral retinoblastoma","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0003075","Curated_Disease_Description__c":"Bilateral Retinoblastoma is a disease that results in malignant tumors that form in the tissues of the retinas of both eyes in children under age 6, with most children with this disease diagnosed between the ages of 1-2 years. Retinoblastoma is the most common intraocular malignancy of infancy and childhood; with an incidence of 1/15,000-20,000 live births. Retinoblastoma is bilateral in about 40% of cases. Bilateral and multifocal unilateral forms are usually hereditary in nature and are caused by mutations in the RB1 gene. The tumors can spread to the eye socket through the optic nerve and may spread to the brain, lungs, and bones.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0003075","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Bilateral Retinoblastoma is a disease that results in malignant tumors that form in the tissues of the retinas of both eyes in children under age 6, with most children with this disease diagnosed between the ages of 1-2 years. Retinoblastoma is the most common intraocular malignancy of infancy and childhood; with an incidence of 1/15,000-20,000 live births. Retinoblastoma is bilateral in about 40% of cases. Bilateral and multifocal unilateral forms are usually hereditary in nature and are caused by mutations in the RB1 gene. The tumors can spread to the eye socket through the optic nerve and may spread to the brain, lungs, and bones.","Curated_Disease_Description_Source__c":"MONDO:0003075","Name":"Bilateral retinoblastoma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"World Eye Cancer Hope","Website__c":"https://wechope.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=163163","Source__c":"C0854914","Xref__c":"MEDGEN:163163"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C8713","Source__c":"C0854914; MONDO:0003075","Xref__c":"C8713"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4650","Source__c":"MONDO:0003075","Xref__c":"DOID:4650"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0854914","Source__c":"C0854914","Xref__c":"C0854914"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0003075","Source__c":"GARD:0023354","Xref__c":"MONDO:0003075"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022370","Xref__c":"423022370"}],"tags":{"Disease Category":["Cancer"],"Account":["Retinal"],"Specialist":["Retinal"]},"synonyms":[""]}