{"Name":"Renal dysplasia","DiseaseID__c":"GARD:0019173","id":19173,"encodedName":"renal-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Renal dysplasia","Xref_IDs__c":"204949001; C3536714; HP:0000110; MEDGEN:760690; MONDO:0019638; ORPHA:93108; Q61.4","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019638","Disease_Description__c":"A rare renal malformation in which the kidney(s) are present but their development is abnormal, leading to malformation of histologic architecture of the kidney and presence of embryological tissue such as mesenchymal collarettes or other forms of undifferentiated and metaplastic tissues. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity.","GARD_Name__c":"Renal dysplasia","GARD_Synonym__c":"congenital renal dysplasia; dysplasia of kidney; dysplastic kidney; dysplastic kidneys; kidney dysplasia; renal adysplasia; renal dysplasia (disease)","Curated_Disease_Description_Source__c":"MONDO:0019638","Curated_Disease_Description__c":"A rare renal malformation in which the kidney(s) are present but their development is abnormal, leading to malformation of histologic architecture of the kidney and presence of embryological tissue such as mesenchymal collarettes or other forms of undifferentiated and metaplastic tissues. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:93108","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019638","ORPHANET_ID__c":"ORPHA:93108","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia renal","Spanish_Description_Source__c":"ORPHA:93108","Spanish_Description__c":"Es una malformación renal poco frecuente en la que los riñones están presentes pero su desarrollo es anómalo, lo que deriva en una malformación de la arquitectura histológica del riñón y a la presencia de tejido embriológico, a modo de collaretes mesenquimales u otras formas de tejidos metaplásicos e indiferenciados. La displasia renal puede ser uni- o bilateral, segmentaria y de gravedad variable.","Spanish_Disease_Name__c":"displasia renal","Spanish_GARD_Synonym__c":"displasia de riñón","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 renal malformation in which the kidney(s) are present but their development is abnormal, leading to malformation of histologic architecture of the kidney and presence of embryological tissue such as mesenchymal collarettes or other forms of undifferentiated and metaplastic tissues. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity.","Curated_Disease_Description_Source__c":"MONDO:0019638","GARD_Synonym__c":"congenital renal dysplasia; dysplasia of kidney; dysplastic kidney; dysplastic kidneys; kidney dysplasia; renal adysplasia; renal dysplasia (disease)","Name":"Renal dysplasia","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:93108"},{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:93108"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/93108","Source__c":"C3536714; MONDO:0019638; ORPHA:93108","Xref__c":"ORPHA:93108"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=760690","Source__c":"C3536714","Xref__c":"MEDGEN:760690"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3536714","Source__c":"C3536714","Xref__c":"C3536714"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=204949001","Source__c":"C3536714","Xref__c":"204949001"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000110","Source__c":"C3536714","Xref__c":"HP:0000110"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019638","Source__c":"GARD:0019173","Xref__c":"MONDO:0019638"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q61.4","Source__c":"MONDO:0019638","Xref__c":"Q61.4"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Occasional (5-29%)","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:93108","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Occasional (5-29%)","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:93108","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005999","HPO_Name__c":"Ureteral atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Occasional (5-29%)","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:93108","HPO_Frequency__c":"Occasional (5-29%)","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:93108","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure of the ureter to undergo development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012300","HPO_Name__c":"Ureteral agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Moderately increased levels of protein in the urine (500-1000 mg per day in adults).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012596","HPO_Name__c":"Moderate proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of the ability to control the urinary bladder leading to involuntary urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000020","HPO_Synonym__c":"Bladder incontinence; Loss of bladder control","HPO_Name__c":"Urinary incontinence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal enlargement or swelling in the pelvic region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031501","HPO_Name__c":"Pelvic mass","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004722","HPO_Synonym__c":"Thickening of the glomerular basement membrane","HPO_Name__c":"Thickened glomerular basement membrane","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the nephron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012575","HPO_Synonym__c":"Abnormality of the nephron","HPO_Name__c":"Abnormal nephron morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the size of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000105","HPO_Synonym__c":"Enlarged kidney; Large kidneys; Nephromegaly; Renal enlargement","HPO_Name__c":"Enlarged kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Occasional (5-29%)","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:93108","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dysfunction of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000009","HPO_Synonym__c":"Poor bladder function","HPO_Name__c":"Functional abnormality of the bladder","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal enlargement or swelling in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031500","HPO_Name__c":"Abdominal mass","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Occasional (5-29%)","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:93108","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030157","HPO_Synonym__c":"Flank pain","HPO_Name__c":"Flank pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a fistula connecting the urinary bladder to the vagina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001586","HPO_Name__c":"Vesicovaginal fistula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008678","HPO_Synonym__c":"Absent/small kidney; Absent/underdeveloped kidney; Renal agenesis/hypoplasia; Renal aplasia/hypoplasia","HPO_Name__c":"Renal hypoplasia/aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000070","HPO_Name__c":"Ureterocele","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Occasional (5-29%)","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:93108","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the morphology of the major calices or minor calices of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011130","HPO_Synonym__c":"Abnormality of renal calyx morphology","HPO_Name__c":"Abnormal renal calyx morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012330","HPO_Name__c":"Pyelonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000003","HPO_Synonym__c":"Multicystic dysplastic kidney; Multicystic kidneys; Multicystic renal dysplasia","HPO_Name__c":"Multicystic kidney dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in an obstructing membrane in the posterior male urethra.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010957","HPO_Synonym__c":"Congenital obstructing posterior urethral membranes; COPUM; Posterior urethral valve","HPO_Name__c":"Congenital posterior urethral valve","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93108","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the renal tubules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000091","HPO_Synonym__c":"Abnormality of the renal tubule; Morphologic abnormality of the renal tubules","HPO_Name__c":"Abnormal renal tubule morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["congenital renal dysplasia"," dysplasia of kidney"," dysplastic kidney"," dysplastic kidneys"," kidney dysplasia"," renal adysplasia"," renal dysplasia (disease)"]}