{"Name":"Early-onset non-syndromic cataract","DiseaseID__c":"GARD:0016801","id":16801,"encodedName":"early-onset-non-syndromic-cataract","IsDeleted":false,"Disease_Name_Full__c":"Early-onset non-syndromic cataract","Xref_IDs__c":"C1832423; MEDGEN:371326; MONDO:0011060; OMIM:601371; ORPHA:91492","USA_Estimate__c":null,"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":null,"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:0011060","Disease_Description__c":"A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.","GARD_Name__c":"Early-onset non-syndromic cataract","GARD_Synonym__c":"age-related nuclear cataract; nuclear sclerosis of the lens","Curated_Disease_Description_Source__c":"MONDO:0011060","Curated_Disease_Description__c":"A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:91492","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011060","ORPHANET_ID__c":"ORPHA:91492","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Catarata no sindrómica de inicio precoz","Spanish_Description_Source__c":"ORPHA:91492","Spanish_Description__c":"Es un trastorno genético no-sindrómico del desarrollo ocular, poco frecuente, con una gran heterogeneidad clínica y genética, más frecuentemente caracterizada por cataratas bilaterales, simétricas y no-progresivas presentes al nacimiento o en la infancia temprana. Puede estar asociada a otras manifestaciones oculares adicionales (por ejemplo, disgenesia del segmento anterior, colobomas, nistagmo, microcórnea, microftalmia, miopía); sin embargo, por lo general, no hay afectación de otros órganos/sistemas.","Spanish_Disease_Name__c":"catarata no sindrómica de inicio precoz","Spanish_GARD_Synonym__c":null,"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":"A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.","Curated_Disease_Description_Source__c":"MONDO:0011060","GARD_Synonym__c":"age-related nuclear cataract; nuclear sclerosis of the lens","Name":"Early-onset non-syndromic cataract","estimateUsa":""}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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":"Neonatal","Provided_By__c":"ORPHA:91492"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:91492"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/601371","Source__c":"C1832423; MONDO:0011060","Xref__c":"OMIM:601371"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832423","Source__c":"C1832423","Xref__c":"C1832423"},{"URL__c":"https://www.orpha.net/en/disease/detail/91492","Source__c":"C1832423; MONDO:0011060","Xref__c":"ORPHA:91492"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=371326","Source__c":"C1832423","Xref__c":"MEDGEN:371326"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011142","Source__c":"C1832423","Xref__c":"HP:0011142"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011060","Source__c":"GARD:0016801","Xref__c":"MONDO:0011060"}],"Inheritance__c":["Autosomal dominant","X-linked recessive","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601371","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["age-related nuclear cataract"," nuclear sclerosis of the lens"]}