{"Name":"Bilateral multicystic dysplastic kidney","DiseaseID__c":"GARD:0009517","id":9517,"encodedName":"bilateral-multicystic-dysplastic-kidney","IsDeleted":false,"Disease_Name_Full__c":"Bilateral multicystic dysplastic kidney","Xref_IDs__c":"717749002; C1840451; MEDGEN:333563; MONDO:0019982; ORPHA:97364","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019982","Disease_Description__c":"A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.","GARD_Name__c":"Bilateral multicystic dysplastic kidney","GARD_Synonym__c":"bilateral mcdk; bilateral multicystic renal dysplasia; multicystic renal dysplasia, bilateral","Curated_Disease_Description_Source__c":"MONDO:0019982","Curated_Disease_Description__c":"A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.","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:97364","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019982","ORPHANET_ID__c":"ORPHA:97364","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Riñón displásico multiquístico bilateral","Spanish_Description_Source__c":"ORPHA:97364","Spanish_Description__c":"Es una forma letal poco frecuente de riñón displásico multiquístico (RDMQ), una anomalía congénita del riñón y del tracto urinario (CAKUT), que se presenta con ambos riñones agrandados, distendidos por múltiples quistes no comunicantes y no funcionales.","Spanish_Disease_Name__c":"riñón displásico multiquístico bilateral","Spanish_GARD_Synonym__c":"displasia renal multiquística bilateral; mcdk bilateral","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 lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.","Curated_Disease_Description_Source__c":"MONDO:0019982","GARD_Synonym__c":"bilateral mcdk; bilateral multicystic renal dysplasia; multicystic renal dysplasia, bilateral","Name":"Bilateral multicystic dysplastic kidney","estimateUsa":""}],"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":"Neonatal","Provided_By__c":"ORPHA:97364"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:97364"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1840451"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009517","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/97364","Source__c":"C1840451; MONDO:0019982; ORPHA:97364","Xref__c":"ORPHA:97364"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1840451","Source__c":"C1840451","Xref__c":"C1840451"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333563","Source__c":"C1840451","Xref__c":"MEDGEN:333563"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717749002","Source__c":"C1840451; MONDO:0019982","Xref__c":"717749002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019982","Source__c":"GARD:0009517","Xref__c":"MONDO:0019982"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HNF1B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hnf1b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["bilateral mcdk"," bilateral multicystic renal dysplasia"," multicystic renal dysplasia, bilateral"]}