{"Name":"Chronic enteropathy associated with SLCO2A1 gene","DiseaseID__c":"GARD:0021946","id":21946,"encodedName":"chronic-enteropathy-associated-with-slco2a1-gene","IsDeleted":false,"Disease_Name_Full__c":"Chronic enteropathy associated with SLCO2A1 gene","Xref_IDs__c":"1187194006; C5568838; MEDGEN:1800261; MONDO:0018766; ORPHA:468641","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:468641","Disease_Description__c":"A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.","GARD_Name__c":"Chronic enteropathy associated with SLCO2A1 gene","GARD_Synonym__c":"ceas; chronic enteropathy associated with solute carrier organic anion transporter family member 2a1 gene","Curated_Disease_Description_Source__c":"ORPHA:468641","Curated_Disease_Description__c":"A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:468641","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018766","ORPHANET_ID__c":"ORPHA:468641","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enteropatía crónica asociada al gen slco2a1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enteropatía crónica asociada al gen slco2a1","Spanish_GARD_Synonym__c":"ceas","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 gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.","Curated_Disease_Description_Source__c":"ORPHA:468641","GARD_Synonym__c":"ceas; chronic enteropathy associated with solute carrier organic anion transporter family member 2a1 gene","Name":"Chronic enteropathy associated with SLCO2A1 gene","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":"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":"Adult","Provided_By__c":"ORPHA:468641"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:468641"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:468641"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1800261","Source__c":"C5568838","Xref__c":"MEDGEN:1800261"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5568838","Source__c":"C5568838","Xref__c":"C5568838"},{"URL__c":"https://www.orpha.net/en/disease/detail/468641","Source__c":"C5568838; MONDO:0018766; ORPHA:468641","Xref__c":"ORPHA:468641"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187194006","Source__c":"C5568838","Xref__c":"1187194006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018766","Source__c":"GARD:0021946","Xref__c":"MONDO:0018766"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLCO2A1","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":["ceas"," chronic enteropathy associated with solute carrier organic anion transporter family member 2a1 gene"]}