{"Name":"Duodenal atresia","DiseaseID__c":"GARD:0000054","id":54,"encodedName":"duodenal-atresia","IsDeleted":false,"Disease_Name_Full__c":"Duodenal atresia","Xref_IDs__c":"51118003; C0266174; C101025; C535720; DOID:0080216; HP:0002247; MEDGEN:75602; MONDO:0009126; OMIM:223400; ORPHA:1203","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":4,"Description_Source__c":"MONDO:0009126","Disease_Description__c":"A rare, non-syndromic intestinal malformation characterized by a complete but short segment obliteration of the duodenal lumen.","GARD_Name__c":"Duodenal atresia","GARD_Synonym__c":"absence or narrowing of first part of small bowel; atresia of duodenum; congenital atresia of duodenum; congenital duodenal atresia; duodenal atresia (disease); duodenal atresia or stenosis","Curated_Disease_Description_Source__c":"MONDO:0009126","Curated_Disease_Description__c":"A rare, non-syndromic intestinal malformation characterized by a complete but short segment obliteration of the duodenal lumen.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:1203","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009126","ORPHANET_ID__c":"ORPHA:1203","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atresia duodenal","Spanish_Description_Source__c":"ORPHA:1203","Spanish_Description__c":"Es una malformación intestinal poco frecuente, no sindrómica, caracterizada por la obliteración total, aunque en segmentos cortos, de la luz intestinal.","Spanish_Disease_Name__c":"atresia duodenal","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, non-syndromic intestinal malformation characterized by a complete but short segment obliteration of the duodenal lumen.","Curated_Disease_Description_Source__c":"MONDO:0009126","GARD_Synonym__c":"absence or narrowing of first part of small bowel; atresia of duodenum; congenital atresia of duodenum; congenital duodenal atresia; duodenal atresia (disease); duodenal atresia or stenosis","Name":"Duodenal atresia","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":"Infancy","Provided_By__c":"ORPHA:1203"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1203"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1203"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1203"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0266174"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C101025","Source__c":"C0266174; MONDO:0009126","Xref__c":"C101025"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75602","Source__c":"C0266174","Xref__c":"MEDGEN:75602"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535720","Source__c":"MONDO:0009126","Xref__c":"C535720"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=51118003","Source__c":"C0266174; MONDO:0009126","Xref__c":"51118003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0266174","Source__c":"C0266174","Xref__c":"C0266174"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080216","Source__c":"MONDO:0009126","Xref__c":"DOID:0080216"},{"URL__c":"https://www.orpha.net/en/disease/detail/1203","Source__c":"C0266174; MONDO:0009126; ORPHA:1203","Xref__c":"ORPHA:1203"},{"URL__c":"https://www.omim.org/entry/223400","Source__c":"C0266174; MONDO:0009126; ORPHA:1203","Xref__c":"OMIM:223400"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002247","Source__c":"C0266174","Xref__c":"HP:0002247"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009126","Source__c":"GARD:0000054","Xref__c":"MONDO:0009126"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025656","HPO_Name__c":"Prenatal double bubble sign","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030145","HPO_Synonym__c":"Lack of bowel sounds","HPO_Name__c":"Lack of bowel sounds","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Vomiting that ejects the gastric contents with great force.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002587","HPO_Synonym__c":"Projectile vomiting","HPO_Name__c":"Projectile vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001732","HPO_Synonym__c":"Abnormality of the pancreas","HPO_Name__c":"Abnormality of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004414","HPO_Synonym__c":"Abnormality of lung artery","HPO_Name__c":"Abnormality of the pulmonary artery","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Vomiting whereby the vomit has the color of bile, yellowish-green.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034754","HPO_Name__c":"Bilious emesis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004909","HPO_Name__c":"Hypokalemic hypochloremic metabolic alkalosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002247","HPO_Synonym__c":"Absence or narrowing of first part of small bowel","HPO_Name__c":"Duodenal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1203","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["absence or narrowing of first part of small bowel"," atresia of duodenum"," congenital atresia of duodenum"," congenital duodenal atresia"," duodenal atresia (disease)"," duodenal atresia or stenosis"]}