{"Name":"Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome","DiseaseID__c":"GARD:0022144","id":22144,"encodedName":"congenital-cataract-severe-neonatal-hepatopathy-global-developmental-delay-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome","Xref_IDs__c":"C5681444; MEDGEN:1814478; MONDO:0033853; ORPHA:521432","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:521432","Disease_Description__c":"A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.","GARD_Name__c":"Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome","GARD_Synonym__c":"congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome","Curated_Disease_Description_Source__c":"ORPHA:521432","Curated_Disease_Description__c":"A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:521432","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0033853","ORPHANET_ID__c":"ORPHA:521432","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome congénito de cataratas-hepatopatía neonatal grave-retraso global del desarrollo","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome congénito de cataratas-hepatopatía neonatal grave-retraso global del desarrollo","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:57146","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 disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.","Curated_Disease_Description_Source__c":"ORPHA:521432","GARD_Synonym__c":"congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome","Name":"Congenital cataract-severe neonatal hepatopathy-global developmental delay syndr","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"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:521432"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/521432","Source__c":"C5681444; MONDO:0033853; ORPHA:521432","Xref__c":"ORPHA:521432"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1814478","Source__c":"C5681444","Xref__c":"MEDGEN:1814478"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681444","Source__c":"C5681444","Xref__c":"C5681444"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0033853","Source__c":"GARD:0022144","Xref__c":"MONDO:0033853"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1260140008","Source__c":"C5681444","Xref__c":"1260140008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CYP51A1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Ophthalmology","Gastroenterology","Anterior segment of Eye","Pediatrics"]},"synonyms":["congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome"]}