{"Name":"Hereditary neuroendocrine tumor of small intestine","DiseaseID__c":"GARD:0021899","id":21899,"encodedName":"hereditary-neuroendocrine-tumor-of-small-intestine","IsDeleted":false,"Disease_Name_Full__c":"Hereditary neuroendocrine tumor of small intestine","Xref_IDs__c":"C5679993; MEDGEN:1826066; MONDO:0018698; ORPHA:456333","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":0,"Description_Source__c":"MONDO:0018698","Disease_Description__c":"An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome.","GARD_Name__c":"Hereditary neuroendocrine tumor of small intestine","GARD_Synonym__c":"hereditary neuroendocrine tumor of small bowel; hereditary neuroendocrine tumor of the small intestine; hereditary neuroendocrine tumour of small bowel; hereditary neuroendocrine tumour of the small intestine; hereditary small intestine neuroendocrine neoplasm","Curated_Disease_Description_Source__c":"ORPHA:456333","Curated_Disease_Description__c":"A rare inherited cancer-predisposing syndrome characterized by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumors. Occurrence of pulmonary carcinoids has also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:456333","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018698","ORPHANET_ID__c":"ORPHA:456333","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tumor neuroendocrino hereditario del intestino delgado","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"tumor neuroendocrino hereditario del intestino delgado","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","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 inherited cancer-predisposing syndrome characterized by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumors. Occurrence of pulmonary carcinoids has also been reported.","Curated_Disease_Description_Source__c":"ORPHA:456333","GARD_Synonym__c":"hereditary neuroendocrine tumor of small bowel; hereditary neuroendocrine tumor of the small intestine; hereditary neuroendocrine tumour of small bowel; hereditary neuroendocrine tumour of the small intestine; hereditary small intestine neuroendocrine neoplasm","Name":"Hereditary neuroendocrine tumor of small intestine","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Neuroendocrine Tumor Research Foundation","Website__c":"https://netrf.org/"},{"Account_Name__c":"The Healing NET Foundation","Website__c":"https://www.thehealingnet.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5679993","Source__c":"C5679993","Xref__c":"C5679993"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1826066","Source__c":"C5679993","Xref__c":"MEDGEN:1826066"},{"URL__c":"https://www.orpha.net/en/disease/detail/456333","Source__c":"C5679993; MONDO:0018698; ORPHA:456333","Xref__c":"ORPHA:456333"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018698","Source__c":"GARD:0021899","Xref__c":"MONDO:0018698"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IPMK","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Gastroenterology"],"Disease Category":["Cancer","Genetics","Gastroenterology"],"Cause":["Genetics"]},"synonyms":["hereditary neuroendocrine tumor of small bowel"," hereditary neuroendocrine tumor of the small intestine"," hereditary neuroendocrine tumour of small bowel"," hereditary neuroendocrine tumour of the small intestine"," hereditary small intestine neuroendocrine neoplasm"]}