{"Name":"Early urethral obstruction sequence","DiseaseID__c":"GARD:0005428","id":5428,"encodedName":"early-urethral-obstruction-sequence","IsDeleted":false,"Disease_Name_Full__c":"Early urethral obstruction sequence","Xref_IDs__c":"18241005; C0265363; C536477; MEDGEN:75568; MONDO:0043207","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":0,"Disease_Characteristics_Score__c":0,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MEDGEN:C0033770","Disease_Description__c":"In its rare complete form, 'prune belly' syndrome comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011).","GARD_Name__c":"Early urethral obstruction sequence","GARD_Synonym__c":"urethral obstruction sequence","Curated_Disease_Description_Source__c":"MEDGEN:C0033770","Curated_Disease_Description__c":"This rare birth sequence affects the urinary tract, abdominal wall, and testicles in males. In its most complete and rare form, it includes a very large bladder (called megacystis) with bladder muscle that does not work normally. Boys with this disease also have undescended testicles (cryptorchidism), meaning the testicles have not moved down into the scrotum. The abdominal muscles are thin, and the skin over the belly is loose and wrinkled, which gives the tummy a “prune-like” look.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0043207","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"This rare birth sequence affects the urinary tract, abdominal wall, and testicles in males. In its most complete and rare form, it includes a very large bladder (called megacystis) with bladder muscle that does not work normally. Boys with this disease also have undescended testicles (cryptorchidism), meaning the testicles have not moved down into the scrotum. The abdominal muscles are thin, and the skin over the belly is loose and wrinkled, which gives the tummy a “prune-like” look.","Curated_Disease_Description_Source__c":"MEDGEN:C0033770","GARD_Synonym__c":"urethral obstruction sequence","Name":"Early urethral obstruction sequence","estimateUsa":""}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0033770"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536477","Source__c":"MONDO:0043207","Xref__c":"C536477"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75568","Source__c":"C0265363","Xref__c":"MEDGEN:75568"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=18241005","Source__c":"C0265363; MONDO:0043207","Xref__c":"18241005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265363","Source__c":"C0265363","Xref__c":"C0265363"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0043207","Source__c":"GARD:0005428","Xref__c":"MONDO:0043207"}],"tags":{},"synonyms":["urethral obstruction sequence"]}