{"Name":"Bladder exstrophy","DiseaseID__c":"GARD:0006398","id":6398,"encodedName":"bladder-exstrophy","IsDeleted":false,"Disease_Name_Full__c":"Bladder exstrophy","Xref_IDs__c":"61758007; C0005689; C123207; D001746; DOID:0080174; HP:0002836; MEDGEN:2661; MONDO:0010805; ORPHA:93930","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010805","Disease_Description__c":"A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.","GARD_Name__c":"Bladder exstrophy","GARD_Synonym__c":"bladder exstrophy (disease); bladder exstrophy-epispadias-cloacal exstrophy complex; classic exstrophy of the bladder; congenital ectopic bladder; congenital extroversion of urinary bladder; ectopia vesicae; exstrophy of bladder; exstrophy of bladder sequence; exstrophy of urinary bladder; exstrophy of urinary bladder sequence","Curated_Disease_Description_Source__c":"MONDO:0010805","Curated_Disease_Description__c":"A subtype of exstrophy-epispadias complex (EEC) characterized by an open bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and the abdominal wall.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:93930","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010805","ORPHANET_ID__c":"ORPHA:93930","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Extrofia vesical clásica","Spanish_Description_Source__c":"ORPHA:93930","Spanish_Description__c":"Es una malformación genitourinaria congénita perteneciente al espectro del complejo extrofia-epispadias (CEE) caracterizada por una placa vesical evaginada, epispadias y un defecto anterior de la pelvis, del suelo pélvico y de la pared abdominal.","Spanish_Disease_Name__c":"extrofia vesical clásica","Spanish_GARD_Synonym__c":"extrofia clásica de la vesícula","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 subtype of exstrophy-epispadias complex (EEC) characterized by an open bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and the abdominal wall.","Curated_Disease_Description_Source__c":"MONDO:0010805","GARD_Synonym__c":"bladder exstrophy (disease); bladder exstrophy-epispadias-cloacal exstrophy complex; classic exstrophy of the bladder; congenital ectopic bladder; congenital extroversion of urinary bladder; ectopia vesicae; exstrophy of bladder; exstrophy of bladder sequence; exstrophy of urinary bladder; exstrophy of urinary bladder sequence","Name":"Bladder exstrophy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Fetal Health Foundation","Website__c":"https://www.fetalhealthfoundation.org/"},{"Account_Name__c":"Association for the Bladder Exstrophy Community","Website__c":"https://www.bladderexstrophy.com"}],"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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93930"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93930"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006398","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001746","Source__c":"C0005689; MONDO:0010805","Xref__c":"D001746"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=2661","Source__c":"C0005689","Xref__c":"MEDGEN:2661"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123207","Source__c":"C0005689; MONDO:0010805","Xref__c":"C123207"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0005689","Source__c":"C0005689","Xref__c":"C0005689"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=61758007","Source__c":"C0005689; MONDO:0010805","Xref__c":"61758007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080174","Source__c":"MONDO:0010805","Xref__c":"DOID:0080174"},{"URL__c":"https://www.orpha.net/en/disease/detail/93930","Source__c":"C0005689; MONDO:0010805; ORPHA:93930","Xref__c":"ORPHA:93930"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002836","Source__c":"C0005689","Xref__c":"HP:0002836"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010805","Source__c":"GARD:0006398","Xref__c":"MONDO:0010805"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Repeated infections of the urinary tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000010","HPO_Synonym__c":"Frequent urinary tract infections; Recurrent UTIs; Repeated bladder infections; Repeated urinary tract infections; Urinary tract infections; Urinary tract infections, recurrent","HPO_Name__c":"Recurrent urinary tract infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93930","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001537","HPO_Synonym__c":"Umbilical hernias","HPO_Name__c":"Umbilical hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93930","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000076","HPO_Synonym__c":"Ureteral reflux; Ureteric reflux; Vesico-ureteral reflux; Vesicoureteric reflux; VUR","HPO_Name__c":"Vesicoureteral reflux","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93930","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008736","HPO_Synonym__c":"Underdeveloped penis","HPO_Name__c":"Hypoplasia of penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93930","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002836","HPO_Synonym__c":"Ectopia vesicae","HPO_Name__c":"Bladder exstrophy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93930","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000039","HPO_Name__c":"Epispadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93930","HPO_Frequency__c":"Occasional (5-29%)","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:93930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93930","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Involuntary fecal soiling in adults and children who have usually already been toilet trained.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002607","HPO_Synonym__c":"Anal incontinence; Fecal incontinence; Loss of bowel control","HPO_Name__c":"Bowel incontinence","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93930","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the anal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004378","HPO_Synonym__c":"Abnormality of the anus","HPO_Name__c":"Abnormality of the anus","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000069","HPO_Synonym__c":"Abnormality of the ureters; Ureter issue; Ureteral anomalies","HPO_Name__c":"Abnormality of the ureter","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93930","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:93930","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the clitoris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000056","HPO_Synonym__c":"Abnormality of the clit; Abnormality of the clitoris","HPO_Name__c":"Abnormal clitoris morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Nephrology","Urologist","Pediatrics"],"Account":["Nephrology"]},"synonyms":["bladder exstrophy (disease)"," bladder exstrophy-epispadias-cloacal exstrophy complex"," classic exstrophy of the bladder"," congenital ectopic bladder"," congenital extroversion of urinary bladder"," ectopia vesicae"," exstrophy of bladder"," exstrophy of bladder sequence"," exstrophy of urinary bladder"," exstrophy of urinary bladder sequence"]}