{"Name":"Cataract 8 multiple types","DiseaseID__c":"GARD:0001146","id":1146,"encodedName":"cataract-8-multiple-types","IsDeleted":false,"Disease_Name_Full__c":"Cataract 8 multiple types","Xref_IDs__c":"C1861833; C538285; DOID:0110228; MEDGEN:396230; MONDO:0007280; OMIM:115665","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007280","Disease_Description__c":"A cataract that has material basis in variation in the region 1pter-p36.13.","GARD_Name__c":"Cataract 8 multiple types","GARD_Synonym__c":"cataract, congenital, volkmann type; ctrct8","Curated_Disease_Description_Source__c":"MEDGEN:C1861833","Curated_Disease_Description__c":"The Volkmann type of cataract has been variously described as progressive, central, or zonular, with opacities in the embryonic, fetal, and juvenile nucleus and around the anterior and posterior Y-suture. Expression is highly variable, ranging from hardly recognizable opacities in the lens to dense cataracts. Affected members may thus be unaware of having the disease (Eiberg et al., 1995).The preferred title/symbol of this entry was formerly 'Cataract, Congenital, Volkmann Type; CCV.'","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:0007280","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":"The Volkmann type of cataract has been variously described as progressive, central, or zonular, with opacities in the embryonic, fetal, and juvenile nucleus and around the anterior and posterior Y-suture. Expression is highly variable, ranging from hardly recognizable opacities in the lens to dense cataracts. Affected members may thus be unaware of having the disease (Eiberg et al., 1995).The preferred title/symbol of this entry was formerly 'Cataract, Congenital, Volkmann Type; CCV.'","Curated_Disease_Description_Source__c":"MEDGEN:C1861833","GARD_Synonym__c":"cataract, congenital, volkmann type; ctrct8","Name":"Cataract 8 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://www.ncbi.nlm.nih.gov/medgen/?term=396230","Source__c":"C1861833","Xref__c":"MEDGEN:396230"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110228","Source__c":"MONDO:0007280","Xref__c":"DOID:0110228"},{"URL__c":"https://www.omim.org/entry/115665","Source__c":"C1861833; MONDO:0007280","Xref__c":"OMIM:115665"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861833","Source__c":"C1861833","Xref__c":"C1861833"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538285","Source__c":"MONDO:0007280","Xref__c":"C538285"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007280","Source__c":"GARD:0001146","Xref__c":"MONDO:0007280"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:115665","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:115665","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100018","HPO_Synonym__c":"Yellowish cloudy center of lens","HPO_Name__c":"Nuclear cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:115665","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"}}],"tags":{"Specialist":["Anterior segment of Eye"]},"synonyms":["cataract, congenital, volkmann type"," ctrct8"]}