{"Name":"Congenital sodium diarrhea","DiseaseID__c":"GARD:0016945","id":16945,"encodedName":"congenital-sodium-diarrhea","IsDeleted":false,"Disease_Name_Full__c":"Congenital sodium diarrhea","Xref_IDs__c":"18805001; C0267663; MEDGEN:78632; MONDO:0015170; ORPHA:103908","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015170","Disease_Description__c":"A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.","GARD_Name__c":"Congenital sodium diarrhea","GARD_Synonym__c":"congenital secretory diarrhea, sodium type; defective na^+^/h^+^ exchange in jejunum and/or ileum; na-h exchange deficiency; non-syndromic congenital sodium diarrhea","Curated_Disease_Description_Source__c":"MONDO:0015170","Curated_Disease_Description__c":"A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:103908","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015170","ORPHANET_ID__c":"ORPHA:103908","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Diarrea sódica congénita","Spanish_Description_Source__c":"ORPHA:103908","Spanish_Description__c":"Es un defecto no sindrómico del transporte intestinal, de base genética y poco frecuente caracterizado por una grave diarrea acuosa de comienzo neonatal con altas concentraciones de sodio, hiponatremia y acidosis metabólica.","Spanish_Disease_Name__c":"diarrea sódica congénita","Spanish_GARD_Synonym__c":"deficiencia de nhe3; deficiencia del intercambiador de sodio/protones tipo 3; deficiencia del intercambiador na-h tipo 3; diarrea sódica congénita no sindrómica","Category_Linearization__c":"ORPHA:97935","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 intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.","Curated_Disease_Description_Source__c":"MONDO:0015170","GARD_Synonym__c":"congenital secretory diarrhea, sodium type; defective na^+^/h^+^ exchange in jejunum and/or ileum; na-h exchange deficiency; non-syndromic congenital sodium diarrhea","Name":"Congenital sodium diarrhea","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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:103908"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:103908"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0267663","Source__c":"C0267663","Xref__c":"C0267663"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78632","Source__c":"C0267663","Xref__c":"MEDGEN:78632"},{"URL__c":"https://www.orpha.net/en/disease/detail/103908","Source__c":"C0267663; MONDO:0015170; ORPHA:103908","Xref__c":"ORPHA:103908"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=18805001","Source__c":"C0267663; MONDO:0015170","Xref__c":"18805001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015170","Source__c":"GARD:0016945","Xref__c":"MONDO:0015170"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC9A3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GUCY2C","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["congenital secretory diarrhea, sodium type"," defective na^+^/h^+^ exchange in jejunum and/or ileum"," na-h exchange deficiency"," non-syndromic congenital sodium diarrhea"]}