{"Name":"Atresia of small intestine","DiseaseID__c":"GARD:0000140","id":140,"encodedName":"atresia-of-small-intestine","IsDeleted":false,"Disease_Name_Full__c":"Atresia of small intestine","Xref_IDs__c":"C0266172; C538260; C98828; MEDGEN:78590; MONDO:0009476; OMIM:243600; ORPHA:1201","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","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":1,"Description_Source__c":"MONDO:0009476","Disease_Description__c":"A rare, congenital defect of the small intestine characterized by disruption in the normal small intestine continuity, resulting in intestinal obstruction. The malformation may be classified in four different types of small bowel atresia (SBA) based on the anatomical obstruction.","GARD_Name__c":"Atresia of small intestine","GARD_Synonym__c":"apple peel syndrome; atresia of the small intestine; congenital atresia of small intestine; congenital atresia of the small intestine; congenital small intestine atresia; intestinal atresia type iiib; jejunal atresia; jejunoileal atresia; small intestinal atresia; small intestine atresia","Curated_Disease_Description_Source__c":"MEDGEN:C0266172","Curated_Disease_Description__c":"A congenital malformation characterized by the absence of a normal opening in a part of the small intestine.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:1201","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009476","ORPHANET_ID__c":"ORPHA:1201","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atresia de intestino delgado","Spanish_Description_Source__c":"ORPHA:1201","Spanish_Description__c":"Es un defecto congénito poco frecuente del intestino delgado caracterizado por la interrupción de su continuidad normal, lo que resulta en obstrucción intestinal. La malformación se puede clasificar en cuatro tipos diferentes de atresia del intestino delgado (SBA; por sus siglas en inglés) según la obstrucción anatómica.","Spanish_Disease_Name__c":"atresia de intestino delgado","Spanish_GARD_Synonym__c":"atresia yeyunal; atresia yeyunoileal","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 congenital malformation characterized by the absence of a normal opening in a part of the small intestine.","Curated_Disease_Description_Source__c":"MEDGEN:C0266172","GARD_Synonym__c":"apple peel syndrome; atresia of the small intestine; congenital atresia of small intestine; congenital atresia of the small intestine; congenital small intestine atresia; intestinal atresia type iiib; jejunal atresia; jejunoileal atresia; small intestinal atresia; small intestine atresia","Name":"Atresia of small intestine","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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":"Antenatal","Provided_By__c":"ORPHA:1201"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0266172","Source__c":"C0266172","Xref__c":"C0266172"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538260","Source__c":"MONDO:0009476","Xref__c":"C538260"},{"URL__c":"https://www.omim.org/entry/243600","Source__c":"MONDO:0009476; ORPHA:1201","Xref__c":"OMIM:243600"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98828","Source__c":"C0266172; MONDO:0009476","Xref__c":"C98828"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78590","Source__c":"C0266172","Xref__c":"MEDGEN:78590"},{"URL__c":"https://www.orpha.net/en/disease/detail/1201","Source__c":"C0266172; MONDO:0009476; ORPHA:1201","Xref__c":"ORPHA:1201"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=84296002","Source__c":"C0266172","Xref__c":"84296002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009476","Source__c":"GARD:0000140","Xref__c":"MONDO:0009476"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1201","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:1201","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1201","HPO_Frequency__c":"Frequent (30-79%)","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:1201","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025015","HPO_Name__c":"Abnormal vascular morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1201","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1201","HPO_Frequency__c":"Frequent (30-79%)","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:1201","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005235","HPO_Name__c":"Jejunal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1201","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005245","HPO_Synonym__c":"Hypoplastic intestines; Underdeveloped instestine","HPO_Name__c":"Intestinal hypoplasia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1201","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002566","HPO_Synonym__c":"Malrotation","HPO_Name__c":"Intestinal malrotation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1201","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["apple peel syndrome"," atresia of the small intestine"," congenital atresia of small intestine"," congenital atresia of the small intestine"," congenital small intestine atresia"," intestinal atresia type iiib"," jejunal atresia"," jejunoileal atresia"," small intestinal atresia"," small intestine atresia"]}