{"Name":"Congenital atresia of colon","DiseaseID__c":"GARD:0001446","id":1446,"encodedName":"congenital-atresia-of-colon","IsDeleted":false,"Disease_Name_Full__c":"Congenital atresia of colon","Xref_IDs__c":"37054000; C0266190; C101024; C562562; MEDGEN:75605; MONDO:0010562; OMIM:303650; ORPHA:1198","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":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010562","Disease_Description__c":"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.","GARD_Name__c":"Congenital atresia of colon","GARD_Synonym__c":"atresia of colon; atresia of the large intestine; colon atresia; colonic atresia; colonic atresia (disease); large intestinal atresia","Curated_Disease_Description_Source__c":"MONDO:0010562","Curated_Disease_Description__c":"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1198","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010562","ORPHANET_ID__c":"ORPHA:1198","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atresia de colon","Spanish_Description_Source__c":"ORPHA:1198","Spanish_Description__c":"La atresia de colon es una malformación intestinal congénita que da como resultado un segmento no latente del colon y que se caracteriza por una obstrucción intestinal menor que se manifiesta con una distensión abdominal y un fallo en la expulsión del meconio en recién nacidos.","Spanish_Disease_Name__c":"atresia de colon","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":"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.","Curated_Disease_Description_Source__c":"MONDO:0010562","GARD_Synonym__c":"atresia of colon; atresia of the large intestine; colon atresia; colonic atresia; colonic atresia (disease); large intestinal atresia","Name":"Congenital atresia of colon","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":"Antenatal","Provided_By__c":"ORPHA:1198"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1198"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=37054000","Source__c":"C0266190; MONDO:0010562","Xref__c":"37054000"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C101024","Source__c":"C0266190; MONDO:0010562","Xref__c":"C101024"},{"URL__c":"https://www.orpha.net/en/disease/detail/1198","Source__c":"C0266190; MONDO:0010562; ORPHA:1198","Xref__c":"ORPHA:1198"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562562","Source__c":"MONDO:0010562","Xref__c":"C562562"},{"URL__c":"https://www.omim.org/entry/303650","Source__c":"C0266190; MONDO:0010562; ORPHA:1198","Xref__c":"OMIM:303650"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0266190","Source__c":"C0266190","Xref__c":"C0266190"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75605","Source__c":"C0266190","Xref__c":"MEDGEN:75605"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010562","Source__c":"GARD:0001446","Xref__c":"MONDO:0010562"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0010448","Source__c":"C0266190","Xref__c":"HP:0010448"},{"URL__c":"https://www.niddk.nih.gov/health-information/digestive-diseases/anatomic-problems-lower-gi-tract/colonic-atresia-stenosis"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1198","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001543","HPO_Name__c":"Gastroschisis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1198","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010448","HPO_Synonym__c":"Atresia of the large intestine; Large intestinal atresia","HPO_Name__c":"Colonic atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100016","HPO_Synonym__c":"Abnormality of mesentery morphology","HPO_Name__c":"Abnormal mesentery morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1198","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001539","HPO_Synonym__c":"Exomphalos; Omphalocoele","HPO_Name__c":"Omphalocele","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1198","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:1198","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004398","HPO_Synonym__c":"Sore in the lining of gastrointestinal tract","HPO_Name__c":"Peptic ulcer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1198","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003363","HPO_Synonym__c":"Situs inversus visceralis; Situs inversus viscerum","HPO_Name__c":"Abdominal situs inversus","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1198","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["atresia of colon"," atresia of the large intestine"," colon atresia"," colonic atresia"," colonic atresia (disease)"," large intestinal atresia"]}