{"Name":"Pancreatic agenesis","DiseaseID__c":"GARD:0004203","id":4203,"encodedName":"pancreatic-agenesis","IsDeleted":false,"Disease_Name_Full__c":"Pancreatic agenesis","Xref_IDs__c":"719044008; C5195568; C564908; DOID:0050877; MEDGEN:1681783; MONDO:0009832; OMIMPS:260370; ORPHA:2805","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009832","Disease_Description__c":"Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.","GARD_Name__c":"Pancreatic agenesis","GARD_Synonym__c":"congenital pancreatic agenesis; pancreatic agenesis type 1; partial agenesis of the pancreas; partial pancreatic agenesis","Curated_Disease_Description_Source__c":"MONDO:0009832","Curated_Disease_Description__c":"Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2805","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009832","ORPHANET_ID__c":"ORPHA:2805","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Agenesia pancreática parcial","Spanish_Description_Source__c":"ORPHA:2805","Spanish_Description__c":"La agenesia parcial de páncreas se caracteriza por la ausencia congénita de una masa crítica de tejido pancreático.","Spanish_Disease_Name__c":"agenesia pancreática parcial","Spanish_GARD_Synonym__c":"agenesia pancreática congénita; agenesia parcial del páncreas","Category_Linearization__c":"ORPHA:93890","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":"Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.","Curated_Disease_Description_Source__c":"MONDO:0009832","GARD_Synonym__c":"congenital pancreatic agenesis; pancreatic agenesis type 1; partial agenesis of the pancreas; partial pancreatic agenesis","Name":"Pancreatic agenesis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Pancreatitis Supporters Network","Website__c":"http://www.pancreatitis.org.uk/"},{"Account_Name__c":"National Pancreas Foundation","Website__c":"https://pancreasfoundation.org/"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2805"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2805"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004203","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/2805","Source__c":"C5195568; MONDO:0009832","Xref__c":"ORPHA:2805"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1681783","Source__c":"C5195568","Xref__c":"MEDGEN:1681783"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719044008","Source__c":"MONDO:0009832","Xref__c":"719044008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5195568","Source__c":"C5195568","Xref__c":"C5195568"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564908","Source__c":"MONDO:0009832","Xref__c":"C564908"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS260370","Source__c":"MONDO:0009832","Xref__c":"OMIMPS:260370"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050877","Source__c":"MONDO:0009832","Xref__c":"DOID:0050877"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009832","Source__c":"GARD:0004203","Xref__c":"MONDO:0009832"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PDX1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PTF1A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["congenital pancreatic agenesis"," pancreatic agenesis type 1"," partial agenesis of the pancreas"," partial pancreatic agenesis"]}