{"Name":"Cataract 40","DiseaseID__c":"GARD:0008278","id":8278,"encodedName":"cataract-40","IsDeleted":false,"Disease_Name_Full__c":"Cataract 40","Xref_IDs__c":"C4049004; C535338; DOID:0110272; MEDGEN:886621; MONDO:0010544; OMIM:302200","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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010544","Disease_Description__c":"Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene.","GARD_Name__c":"Cataract 40","GARD_Synonym__c":"cataract 40 with or without microcornea; cataract 40 x-linked; cataract 40, x-linked; cataract type 40; cataract, congenital total, with posterior sutural opacities in heterozygotes; ctrct40; early-onset non-syndromic cataract caused by mutation in nhs; nhs early-onset non-syndromic cataract","Curated_Disease_Description_Source__c":"MONDO:0010544","Curated_Disease_Description__c":"Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS 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:0010544","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 early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene.","Curated_Disease_Description_Source__c":"MONDO:0010544","GARD_Synonym__c":"cataract 40 with or without microcornea; cataract 40 x-linked; cataract 40, x-linked; cataract type 40; cataract, congenital total, with posterior sutural opacities in heterozygotes; ctrct40; early-onset non-syndromic cataract caused by mutation in nhs; nhs early-onset non-syndromic cataract","Name":"Cataract 40","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.omim.org/entry/302200","Source__c":"C4049004; MONDO:0010544","Xref__c":"OMIM:302200"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4049004","Source__c":"C4049004","Xref__c":"C4049004"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110272","Source__c":"MONDO:0010544","Xref__c":"DOID:0110272"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=886621","Source__c":"C4049004","Xref__c":"MEDGEN:886621"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535338","Source__c":"MONDO:0010544","Xref__c":"C535338"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010544","Source__c":"GARD:0008278","Xref__c":"MONDO:0010544"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NHS","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:302200","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:302200","Feature__r":{"HPO_Description__c":"Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001141","HPO_Synonym__c":"Marked vision impairment; Severe reduction in visual acuity; Severe vision loss; Severe visual impairment; Severe visual loss; Severely impaired vision","HPO_Name__c":"Severely reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:302200","Feature__r":{"HPO_Description__c":"A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010695","HPO_Name__c":"Sutural cataract","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Anterior segment of Eye"]},"synonyms":["cataract 40 with or without microcornea"," cataract 40 x-linked"," cataract 40, x-linked"," cataract type 40"," cataract, congenital total, with posterior sutural opacities in heterozygotes"," ctrct40"," early-onset non-syndromic cataract caused by mutation in nhs"," nhs early-onset non-syndromic cataract"]}