{"Name":"Annular pancreas","DiseaseID__c":"GARD:0000705","id":705,"encodedName":"annular-pancreas","IsDeleted":false,"Disease_Name_Full__c":"Annular pancreas","Xref_IDs__c":"40315008; C0149955; C536376; C98813; DOID:0060850; HP:0001734; MEDGEN:56211; MONDO:0008183; OMIM:167750; ORPHA:675; Q45.1","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008183","Disease_Description__c":"A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.","GARD_Name__c":"Annular pancreas","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0008183","Curated_Disease_Description__c":"A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:675","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008183","ORPHANET_ID__c":"ORPHA:675","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Páncreas anular","Spanish_Description_Source__c":"ORPHA:675","Spanish_Description__c":"Es una forma de atresia duodenal en la cual la cabeza del páncreas forma un anillo alrededor de la segunda porción del duodeno.","Spanish_Disease_Name__c":"páncreas anular","Spanish_GARD_Synonym__c":null,"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":"A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.","Curated_Disease_Description_Source__c":"MONDO:0008183","Name":"Annular pancreas","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"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:675"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:675"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0149955"}],"External_Identifier_Disease__c":[{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q45.1","Source__c":"MONDO:0008183","Xref__c":"Q45.1"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=56211","Source__c":"C0149955","Xref__c":"MEDGEN:56211"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060850","Source__c":"MONDO:0008183","Xref__c":"DOID:0060850"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98813","Source__c":"C0149955; MONDO:0008183","Xref__c":"C98813"},{"URL__c":"https://www.orpha.net/en/disease/detail/675","Source__c":"C0149955; MONDO:0008183; ORPHA:675","Xref__c":"ORPHA:675"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536376","Source__c":"MONDO:0008183","Xref__c":"C536376"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0149955","Source__c":"C0149955","Xref__c":"C0149955"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=40315008","Source__c":"C0149955; MONDO:0008183","Xref__c":"40315008"},{"URL__c":"https://www.omim.org/entry/167750","Source__c":"C0149955; MONDO:0008183; ORPHA:675","Xref__c":"OMIM:167750"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008183","Source__c":"GARD:0000705","Xref__c":"MONDO:0008183"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001734","Source__c":"C0149955","Xref__c":"HP:0001734"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:675","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The narrowing or partial blockage of a portion of the duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100867","HPO_Synonym__c":"Duodenal stenosis/atresia","HPO_Name__c":"Duodenal stenosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:675","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005250","HPO_Name__c":"High intestinal obstruction","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:675","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001734","HPO_Name__c":"Annular pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":[""]}