{"Name":"Congenital primary megaureter","DiseaseID__c":"GARD:0018700","id":18700,"encodedName":"congenital-primary-megaureter","IsDeleted":false,"Disease_Name_Full__c":"Congenital primary megaureter","Xref_IDs__c":"717459000; C4273898; MEDGEN:903364; MONDO:0018960; ORPHA:617","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0018960","Disease_Description__c":"A rare non-syndromic urogenital tract malformation characterized by a dilated ureter and normal bladder and bladder outlet. It may be obstructed, refluxing or unobstructed and not refluxing.","GARD_Name__c":"Congenital primary megaureter","GARD_Synonym__c":"congenital primary megalo-ureter","Curated_Disease_Description_Source__c":"ORPHA:617","Curated_Disease_Description__c":"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:617","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018960","ORPHANET_ID__c":"ORPHA:617","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Megauréter congénito primario","Spanish_Description_Source__c":"ORPHA:617","Spanish_Description__c":"Es una malformación poco frecuente y no sindrómica del tracto urogenital caracterizada por una dilatación primaria del uréter con una vejiga urinaria y su flujo de salida normales. Puede ser obstructivo, refluyente, o no obstructivo con ausencia de reflujo.","Spanish_Disease_Name__c":"megauréter congénito primario","Spanish_GARD_Synonym__c":"megalouréter congénito primario","Category_Linearization__c":"ORPHA:101433","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":"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.","Curated_Disease_Description_Source__c":"ORPHA:617","GARD_Synonym__c":"congenital primary megalo-ureter","Name":"Congenital primary megaureter","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":"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":"Neonatal","Provided_By__c":"ORPHA:617"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:617"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:617"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:617"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:617"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/617","Source__c":"C4273898; MONDO:0018960; ORPHA:617","Xref__c":"ORPHA:617"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=903364","Source__c":"C4273898","Xref__c":"MEDGEN:903364"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4273898","Source__c":"C4273898","Xref__c":"C4273898"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717459000","Source__c":"C4273898; MONDO:0018960","Xref__c":"717459000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018960","Source__c":"GARD:0018700","Xref__c":"MONDO:0018960"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:617","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental disturbance with extreme ureteral dilatation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008676","HPO_Synonym__c":"Congenital megaloureter; Primary megaloureter; Primary megaureter","HPO_Name__c":"Congenital megaureter","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:617","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the upper urinary tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010935","HPO_Synonym__c":"Abnormality of the upper urinary tract","HPO_Name__c":"Abnormality of the upper urinary tract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:617","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:617","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:617","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:617","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:617","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Microscopic hematuria detected by dipstick or microscopic examination of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002907","HPO_Synonym__c":"Microhematuria; Occult hematuria; Small amount of blood in urine","HPO_Name__c":"Microscopic hematuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:617","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the male external sex organ.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000036","HPO_Synonym__c":"Abnormality of the penis","HPO_Name__c":"Abnormal penis morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:617","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:617","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Nephrology","Urologist","Pediatrics"],"Account":["Nephrology"]},"synonyms":["congenital primary megalo-ureter"]}