{"Name":"Cataract 4 multiple types","DiseaseID__c":"GARD:0001144","id":1144,"encodedName":"cataract-4-multiple-types","IsDeleted":false,"Disease_Name_Full__c":"Cataract 4 multiple types","Xref_IDs__c":"C3540850; DOID:0110234; MEDGEN:761925; MONDO:0007281; OMIM:115700","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:0007281","Disease_Description__c":"Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene.","GARD_Name__c":"Cataract 4 multiple types","GARD_Synonym__c":"cataract (disease) caused by mutation in crygd; cataract 4 multiple types with or without microcornea; cataract 4 with microcornea; cataract 4, aculeiform; cataract 4, central nuclear; cataract 4, crystalline; cataract 4, multiple types, with or without microcornea; cataract 4, nonnuclear polymorphic congenital; cataract 4, punctate; crygd cataract (disease); ctrct4","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Cataract 4 is a disease that affects the eyes and can cause different types of cataracts. The different types of cataracts that are included in cataract 4 are aculeiform, crystalline aculeiform, crystalline, crystal, frosted, needle-shaped, fasciculiform, congenital cerulean, nonnuclear polymorphic congenital, central nuclear, lamellar, and punctate. People within the same family may have different types of cataracts. Some patients may also have smaller than normal corneas (microcornea). The disease is caused by a problem in the CRYGD gene. This gene variant is passed through families in an autosomal dominant pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:115700","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007281","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":"Cataract 4 is a disease that affects the eyes and can cause different types of cataracts. The different types of cataracts that are included in cataract 4 are aculeiform, crystalline aculeiform, crystalline, crystal, frosted, needle-shaped, fasciculiform, congenital cerulean, nonnuclear polymorphic congenital, central nuclear, lamellar, and punctate. People within the same family may have different types of cataracts. Some patients may also have smaller than normal corneas (microcornea). The disease is caused by a problem in the CRYGD gene. This gene variant is passed through families in an autosomal dominant pattern.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"cataract (disease) caused by mutation in crygd; cataract 4 multiple types with or without microcornea; cataract 4 with microcornea; cataract 4, aculeiform; cataract 4, central nuclear; cataract 4, crystalline; cataract 4, multiple types, with or without microcornea; cataract 4, nonnuclear polymorphic congenital; cataract 4, punctate; crygd cataract (disease); ctrct4","Name":"Cataract 4 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://raresource.nih.gov/diseases/filter/0001144","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110234","Source__c":"MONDO:0007281","Xref__c":"DOID:0110234"},{"URL__c":"https://www.omim.org/entry/115700","Source__c":"C3540850; MONDO:0007281","Xref__c":"OMIM:115700"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=761925","Source__c":"C3540850","Xref__c":"MEDGEN:761925"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3540850","Source__c":"C3540850","Xref__c":"C3540850"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007281","Source__c":"GARD:0001144","Xref__c":"MONDO:0007281"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CRYGD","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:115700","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 (disease) caused by mutation in crygd"," cataract 4 multiple types with or without microcornea"," cataract 4 with microcornea"," cataract 4, aculeiform"," cataract 4, central nuclear"," cataract 4, crystalline"," cataract 4, multiple types, with or without microcornea"," cataract 4, nonnuclear polymorphic congenital"," cataract 4, punctate"," crygd cataract (disease)"," ctrct4"]}