{"Name":"Rectal duplication","DiseaseID__c":"GARD:0020122","id":20122,"encodedName":"rectal-duplication","IsDeleted":false,"Disease_Name_Full__c":"Rectal duplication","Xref_IDs__c":"725910009; C4511483; HP:6000336; MEDGEN:1393874; MONDO:0015734; ORPHA:171220","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015734","Disease_Description__c":"A rare, congenital, intestinal malformation morphological anomaly characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.","GARD_Name__c":"Rectal duplication","GARD_Synonym__c":"congenital duplication of rectum","Curated_Disease_Description_Source__c":"MONDO:0015734","Curated_Disease_Description__c":"A rare, congenital, intestinal malformation morphological anomaly characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:171220","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015734","ORPHANET_ID__c":"ORPHA:171220","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Duplicación rectal aislada","Spanish_Description_Source__c":"ORPHA:171220","Spanish_Description__c":"Es una malformación anorrectal congénita poco frecuente caracterizada por una masa quística de contenido mucoso en forma de huevo, compuesta de revestimiento mucoso intestinal y tejido muscular liso. Se presenta más comúnmente en la infancia con síntomas de infecciones recurrentes del tracto urinario, gastroenteritis, obstrucción, sepsis perianal y sangrado rectal. Asimismo, el drenaje anal mucoso o purulento es un signo frecuente de presentación. La mayoría se localizan en el espacio retrorrectal, donde se comunican con, o son contiguos al recto.","Spanish_Disease_Name__c":"duplicación rectal 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, congenital, intestinal malformation morphological anomaly characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.","Curated_Disease_Description_Source__c":"MONDO:0015734","GARD_Synonym__c":"congenital duplication of rectum","Name":"Rectal duplication","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"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725910009","Source__c":"C4511483; MONDO:0015734","Xref__c":"725910009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1393874","Source__c":"C4511483","Xref__c":"MEDGEN:1393874"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4511483","Source__c":"C4511483","Xref__c":"C4511483"},{"URL__c":"https://www.orpha.net/en/disease/detail/171220","Source__c":"C4511483; MONDO:0015734; ORPHA:171220","Xref__c":"ORPHA:171220"},{"URL__c":"https://hpo.jax.org/browse/term/HP:6000336","Source__c":"C4511483","Xref__c":"HP:6000336"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015734","Source__c":"GARD:0020122","Xref__c":"MONDO:0015734"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology"]},"synonyms":["congenital duplication of rectum"]}