{"Name":"Multiple gastrointestinal atresias","DiseaseID__c":"GARD:0003013","id":3013,"encodedName":"multiple-gastrointestinal-atresias","IsDeleted":false,"Disease_Name_Full__c":"Multiple gastrointestinal atresias","Xref_IDs__c":"95472001; C0220744; MEDGEN:65090; MONDO:0009465; ORPHA:2300","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009465","Disease_Description__c":"A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.","GARD_Name__c":"Multiple gastrointestinal atresias","GARD_Synonym__c":"familial intestinal polyatresia syndrome; isolated multiple intestinal atresia; multiple intestinal atresia","Curated_Disease_Description_Source__c":"MONDO:0009465","Curated_Disease_Description__c":"A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2300","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009465","ORPHANET_ID__c":"ORPHA:2300","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atresia intestinal múltiple aislada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"atresia intestinal múltiple aislada","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 rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.","Curated_Disease_Description_Source__c":"MONDO:0009465","GARD_Synonym__c":"familial intestinal polyatresia syndrome; isolated multiple intestinal atresia; multiple intestinal atresia","Name":"Multiple gastrointestinal atresias","estimateUsa":""}],"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:2300"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2300"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0220744"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003013","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=65090","Source__c":"C0220744","Xref__c":"MEDGEN:65090"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220744","Source__c":"C0220744","Xref__c":"C0220744"},{"URL__c":"https://www.orpha.net/en/disease/detail/2300","Source__c":"C0220744; MONDO:0009465; ORPHA:2300","Xref__c":"ORPHA:2300"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=95472001","Source__c":"MONDO:0009465","Xref__c":"95472001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009465","Source__c":"GARD:0003013","Xref__c":"MONDO:0009465"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002589","HPO_Synonym__c":"GI atresia","HPO_Name__c":"Gastrointestinal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2300","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:2300","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["familial intestinal polyatresia syndrome"," isolated multiple intestinal atresia"," multiple intestinal atresia"]}