{"Name":"Syndromic congenital sodium diarrhea","DiseaseID__c":"GARD:0022262","id":22262,"encodedName":"syndromic-congenital-sodium-diarrhea","IsDeleted":false,"Disease_Name_Full__c":"Syndromic congenital sodium diarrhea","Xref_IDs__c":"1222709003; C5680120; MEDGEN:1805017; MONDO:0034204; ORPHA:563708","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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:563708","Disease_Description__c":"A rare, genetic, syndromic intestinal disorder, characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, uni- or bilateral chonal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly.","GARD_Name__c":"Syndromic congenital sodium diarrhea","GARD_Synonym__c":"syndromic congenital tufting enteropathy","Curated_Disease_Description_Source__c":"ORPHA:563708","Curated_Disease_Description__c":"A rare, genetic, syndromic intestinal disorder, characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, uni- or bilateral choanal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly.","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:563708","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0034204","ORPHANET_ID__c":"ORPHA:563708","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Diarrea sódica congénita sindrómica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"diarrea sódica congénita sindrómica","Spanish_GARD_Synonym__c":"enteropatía congénita en penacho congénita","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, syndromic intestinal disorder, characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, uni- or bilateral choanal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly.","Curated_Disease_Description_Source__c":"ORPHA:563708","GARD_Synonym__c":"syndromic congenital tufting enteropathy","Name":"Syndromic 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":"Antenatal","Provided_By__c":"ORPHA:563708"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:563708"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/563708","Source__c":"C5680120; MONDO:0034204; ORPHA:563708","Xref__c":"ORPHA:563708"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680120","Source__c":"C5680120","Xref__c":"C5680120"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1805017","Source__c":"C5680120","Xref__c":"MEDGEN:1805017"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1222709003","Source__c":"C5680120","Xref__c":"1222709003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0034204","Source__c":"GARD:0022262","Xref__c":"MONDO:0034204"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SPINT2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["syndromic congenital tufting enteropathy"]}