{"Name":"Diverticulosis of bowel, hernia, and retinal detachment","DiseaseID__c":"GARD:0003401","id":3401,"encodedName":"diverticulosis-of-bowel-hernia-and-retinal-detachment","IsDeleted":false,"Disease_Name_Full__c":"Diverticulosis of bowel, hernia, and retinal detachment","Xref_IDs__c":"C1857227; C565619; MEDGEN:341729; MONDO:0009120; OMIM:223330; ORPHA:2464","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009120","Disease_Description__c":"A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.","GARD_Name__c":"Diverticulosis of bowel, hernia, and retinal detachment","GARD_Synonym__c":"marfanoid syndrome, de silva type","Curated_Disease_Description_Source__c":"MONDO:0009120","Curated_Disease_Description__c":"A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as an Adult","SourceID__c":"ORPHA:2464","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009120","ORPHANET_ID__c":"ORPHA:2464","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome marfanoide tipo de silva","Spanish_Description_Source__c":"ORPHA:2464","Spanish_Description__c":"Es una malformación intestinal sindrómica y poco frecuente caracterizada por la asociación de rasgos marfanoides (incluyendo hábito marfanoide, miopía grave, desprendimiento de retina y prolapso de la válvula mitral) con divertículos viscerales (hernia inguinal y/o femoral y divertículos del intestino grueso y delgado o de la vejiga). Algunos pacientes también presentaron eventración diafragmática. No ha habido más casos descritos en la literatura desde 1996.","Spanish_Disease_Name__c":"síndrome marfanoide tipo de silva","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 syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.","Curated_Disease_Description_Source__c":"MONDO:0009120","GARD_Synonym__c":"marfanoid syndrome, de silva type","Name":"Diverticulosis of bowel, hernia, and retinal detachment","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Birth Defect Research for Children","Website__c":"https://www.birthdefects.org/"}],"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":"Childhood","Provided_By__c":"ORPHA:2464"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2464"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857227","Source__c":"C1857227","Xref__c":"C1857227"},{"URL__c":"https://www.omim.org/entry/223330","Source__c":"C1857227; MONDO:0009120; ORPHA:2464","Xref__c":"OMIM:223330"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341729","Source__c":"C1857227","Xref__c":"MEDGEN:341729"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565619","Source__c":"MONDO:0009120","Xref__c":"C565619"},{"URL__c":"https://www.orpha.net/en/disease/detail/2464","Source__c":"C1857227; MONDO:0009120","Xref__c":"ORPHA:2464"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009120","Source__c":"GARD:0003401","Xref__c":"MONDO:0009120"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["marfanoid syndrome, de silva type"]}