{"Name":"Cataract-glaucoma syndrome","DiseaseID__c":"GARD:0001160","id":1160,"encodedName":"cataract-glaucoma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cataract-glaucoma syndrome","Xref_IDs__c":"718851007; C4305131; MEDGEN:930800; MONDO:0015567; ORPHA:162","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015567","Disease_Description__c":"Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.","GARD_Name__c":"Cataract-glaucoma syndrome","GARD_Synonym__c":"cataract - glaucoma; cataract glaucoma syndrome","Curated_Disease_Description_Source__c":"MONDO:0015567","Curated_Disease_Description__c":"Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:162","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015567","ORPHANET_ID__c":"ORPHA:162","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome congénito de catarata-disgenesia del segmento anterior","Spanish_Description_Source__c":"ORPHA:162","Spanish_Description__c":"Este síndrome se caracteriza por la asociación de cataratas bilaterales congénitas con glaucoma secundario que aparece a una edad que puede variar de los 10 a los 40 años.","Spanish_Disease_Name__c":"síndrome congénito de catarata-disgenesia del segmento anterior","Spanish_GARD_Synonym__c":"síndrome congénito de catarata-disgenesia mesenquimatosa del segmento anterior","Category_Linearization__c":"ORPHA:97966","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":"Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.","Curated_Disease_Description_Source__c":"MONDO:0015567","GARD_Synonym__c":"cataract - glaucoma; cataract glaucoma syndrome","Name":"Cataract-glaucoma syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:162"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:162"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001160","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4305131","Source__c":"C4305131","Xref__c":"C4305131"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930800","Source__c":"C4305131","Xref__c":"MEDGEN:930800"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718851007","Source__c":"C4305131; MONDO:0015567","Xref__c":"718851007"},{"URL__c":"https://www.orpha.net/en/disease/detail/162","Source__c":"C4305131; MONDO:0015567","Xref__c":"ORPHA:162"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015567","Source__c":"GARD:0001160","Xref__c":"MONDO:0015567"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PITX3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["cataract - glaucoma"," cataract glaucoma syndrome"]}