{"Name":"Cataract 6 multiple types","DiseaseID__c":"GARD:0010234","id":10234,"encodedName":"cataract-6-multiple-types","IsDeleted":false,"Disease_Name_Full__c":"Cataract 6 multiple types","Xref_IDs__c":"C1861825; DOID:0110229; MEDGEN:396229; MONDO:0007288; OMIM:116600","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007288","Disease_Description__c":"Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.","GARD_Name__c":"Cataract 6 multiple types","GARD_Synonym__c":"cataract (disease) caused by mutation in epha2; cataract 6, congenital total; cataract 6, posterior polar; cataract, age-related cortical, 2; ctrct6; epha2 cataract (disease)","Curated_Disease_Description_Source__c":"MONDO:0007288","Curated_Disease_Description__c":"Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.","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:0007288","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":"Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.","Curated_Disease_Description_Source__c":"MONDO:0007288","GARD_Synonym__c":"cataract (disease) caused by mutation in epha2; cataract 6, congenital total; cataract 6, posterior polar; cataract, age-related cortical, 2; ctrct6; epha2 cataract (disease)","Name":"Cataract 6 multiple types","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861825","Source__c":"C1861825","Xref__c":"C1861825"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=396229","Source__c":"C1861825","Xref__c":"MEDGEN:396229"},{"URL__c":"https://www.omim.org/entry/116600","Source__c":"C1861825; MONDO:0007288","Xref__c":"OMIM:116600"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110229","Source__c":"MONDO:0007288","Xref__c":"DOID:0110229"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007288","Source__c":"GARD:0010234","Xref__c":"MONDO:0007288"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EPHA2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:116600","Feature__r":{"HPO_Description__c":"Well-defined, pale patches in the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001139","HPO_Name__c":"Chorioretinal scalloped atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116600","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A polar cataract that affects the posterior pole of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001115","HPO_Synonym__c":"Polar cataract, posterior","HPO_Name__c":"Posterior polar cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116600","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Anterior segment of Eye"]},"synonyms":["cataract (disease) caused by mutation in epha2"," cataract 6, congenital total"," cataract 6, posterior polar"," cataract, age-related cortical, 2"," ctrct6"," epha2 cataract (disease)"]}