{"Name":"Cryptogenic multifocal ulcerous stenosing enteritis","DiseaseID__c":"GARD:0021945","id":21945,"encodedName":"cryptogenic-multifocal-ulcerous-stenosing-enteritis","IsDeleted":false,"Disease_Name_Full__c":"Cryptogenic multifocal ulcerous stenosing enteritis","Xref_IDs__c":"722849002; C4302263; MEDGEN:927932; MONDO:0018765; ORPHA:468635","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:468635","Disease_Description__c":"A rare intestinal disease characterized by chronic or relapsing subileus or ileus resulting from multiple unexplained fibrous structures and multiple shallow (i. e. limited to the mucosa or submucosa) ulcerations of the small intestine (mainly the ileum), in the absence of signs of a systemic inflammatory reaction. Patients may present with chronic iron-deficiency anemia due to chronic intestinal blood loss, chronic recurrent abdominal pain, fatigue, edema, or growth retardation. Extraintestinal manifestations such as Sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed.","GARD_Name__c":"Cryptogenic multifocal ulcerous stenosing enteritis","GARD_Synonym__c":"cmuse","Curated_Disease_Description_Source__c":"ORPHA:468635","Curated_Disease_Description__c":"A rare intestinal disease characterized by chronic or relapsing subileus or ileus resulting from multiple unexplained fibrous structures and multiple shallow (i. e. limited to the mucosa or submucosa) ulcerations of the small intestine (mainly the ileum), in the absence of signs of a systemic inflammatory reaction. Patients may present with chronic iron-deficiency anemia due to chronic intestinal blood loss, chronic recurrent abdominal pain, fatigue, edema, or growth retardation. Extraintestinal manifestations such as Sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed.","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:468635","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018765","ORPHANET_ID__c":"ORPHA:468635","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enteritis ulcerativa estenosante multifocal criptogénica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enteritis ulcerativa estenosante multifocal criptogénica","Spanish_GARD_Synonym__c":"cmuse; enteritis estenosante ulcerosa multifocal criptogénica","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 intestinal disease characterized by chronic or relapsing subileus or ileus resulting from multiple unexplained fibrous structures and multiple shallow (i. e. limited to the mucosa or submucosa) ulcerations of the small intestine (mainly the ileum), in the absence of signs of a systemic inflammatory reaction. Patients may present with chronic iron-deficiency anemia due to chronic intestinal blood loss, chronic recurrent abdominal pain, fatigue, edema, or growth retardation. Extraintestinal manifestations such as Sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed.","Curated_Disease_Description_Source__c":"ORPHA:468635","GARD_Synonym__c":"cmuse","Name":"Cryptogenic multifocal ulcerous stenosing enteritis","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":"Childhood","Provided_By__c":"ORPHA:468635"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:468635"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:468635"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/468635","Source__c":"C4302263; MONDO:0018765; ORPHA:468635","Xref__c":"ORPHA:468635"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4302263","Source__c":"C4302263","Xref__c":"C4302263"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=927932","Source__c":"C4302263","Xref__c":"MEDGEN:927932"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722849002","Source__c":"C4302263; MONDO:0018765","Xref__c":"722849002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018765","Source__c":"GARD:0021945","Xref__c":"MONDO:0018765"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLA2G4A","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":["cmuse"]}