{"Name":"Atresia of urethra","DiseaseID__c":"GARD:0018678","id":18678,"encodedName":"atresia-of-urethra","IsDeleted":false,"Disease_Name_Full__c":"Atresia of urethra","Xref_IDs__c":"253902002; C0345345; MEDGEN:576882; MONDO:0015195; ORPHA:105","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":2,"Description_Source__c":"MONDO:0015195","Disease_Description__c":"A rare fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting <i>in utero</i> as megacystis, oligohydramnios or anhydramnios, and potter sequence.","GARD_Name__c":"Atresia of urethra","GARD_Synonym__c":"absent urethral opening; atresia of urethra (disease); urethral atresia; urethral opening absent","Curated_Disease_Description_Source__c":"MONDO:0015195","Curated_Disease_Description__c":"A rare fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting in utero as megacystis, oligohydramnios or anhydramnios, and potter sequence.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:105","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015195","ORPHANET_ID__c":"ORPHA:105","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atresia uretral","Spanish_Description_Source__c":"ORPHA:105","Spanish_Description__c":"Es una obstrucción fetal del tracto urinario inferior LUTO; por sus siglas en inglés muy poco frecuente caracterizada por el cierre o la ausencia de desarrollo de una apertura en la uretra, lo que conduce a una uropatía obstructiva que se presenta intraútero como megavejiga, oligohidramnios o anhidramnios, y secuencia Potter.","Spanish_Disease_Name__c":"atresia uretral","Spanish_GARD_Synonym__c":"atresia de la uretra","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 fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting in utero as megacystis, oligohydramnios or anhydramnios, and potter sequence.","Curated_Disease_Description_Source__c":"MONDO:0015195","GARD_Synonym__c":"absent urethral opening; atresia of urethra (disease); urethral atresia; urethral opening absent","Name":"Atresia of urethra","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:105"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:105"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253902002","Source__c":"C0345345; MONDO:0015195","Xref__c":"253902002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=576882","Source__c":"C0345345","Xref__c":"MEDGEN:576882"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0345345","Source__c":"C0345345","Xref__c":"C0345345"},{"URL__c":"https://www.orpha.net/en/disease/detail/105","Source__c":"C0345345; MONDO:0015195; ORPHA:105","Xref__c":"ORPHA:105"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000068","Source__c":"C0345345","Xref__c":"HP:0000068"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015195","Source__c":"GARD:0018678","Xref__c":"MONDO:0015195"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:105","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished amniotic fluid volume in pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001562","HPO_Synonym__c":"Low levels of amniotic fluid; Maternal oligohydramnios","HPO_Name__c":"Oligohydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:105","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:105","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010479","HPO_Synonym__c":"Persistent urachus","HPO_Name__c":"Patent urachus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:105","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The distention of the ureter with urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000072","HPO_Synonym__c":"Dilated ureter; Megaureter; Swelling of ureter; Ureteral dilatation; Wide ureter","HPO_Name__c":"Hydroureter","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:105","HPO_Frequency__c":"Frequent (30-79%)","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:105","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:105","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dilatation of the bladder postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000021","HPO_Name__c":"Megacystis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:105","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010444","HPO_Synonym__c":"Pulmonary incompetence; Pulmonary valve insufficiency; Pulmonary valve regurgitation; Puolmonary valve insufficiency","HPO_Name__c":"Pulmonic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:105","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a dilated urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010955","HPO_Name__c":"Dilatation of the bladder","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:105","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000110","HPO_Synonym__c":"Dysplastic kidneys; Renal adysplasia","HPO_Name__c":"Renal dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:105","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:105","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:105","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004321","HPO_Name__c":"Bladder fistula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:105","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Nephrology","Urologist","Pediatrics"],"Account":["Nephrology"]},"synonyms":["absent urethral opening"," atresia of urethra (disease)"," urethral atresia"," urethral opening absent"]}