{"orpha":93600,"name":"Primary hyperoxaluria type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Primary hyperoxaluria","url":"https://raremap.alftech.space/d/ORPHA-93600/","orphanet_url":"https://www.orpha.net/en/disease/detail/93600","names":{"fr":{"name":"Hyperoxalurie primitive type 3"},"de":{"name":"Hyperoxalurie, primäre, Typ 3"},"es":{"name":"Hiperoxaluria primaria tipo 3"},"it":{"name":"Iperossaluria primitiva, tipo 3"},"nl":{"name":"Primaire hyperoxalurie type 3"},"pt":{"name":"Hiperoxalúria tipo não 1 e não 2"},"pl":{"name":"Pierwotna hiperoksaluria typu 3"},"cs":{"name":"Primární hyperoxalurie, typ 3"},"uk":{"name":"Первинна гіпероксалурія, тип 3"},"zh":{"name":"原发性高草酸尿症3型"},"tr":{"name":"Primer hiperoksalüri tip 3"}},"xrefs":[{"source":"OMIM","code":"613616","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013327","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150878","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10738","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":416,"name":"Primary hyperoxaluria","classifications":[150,156,188,189,233]}],"children":[],"genes":[{"symbol":"HOGA1","name":"4-hydroxy-2-oxoglutarate aldolase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"25155","ensembl":"ENSG00000241935","omim":"613597","loci":["10q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"23167815[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-24","source":"26401545[PMID]","terms":[{"hpo":"HP:0012211","label":"Abnormal renal physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003110","label":"Abnormality of urine homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008672","label":"Calcium oxalate nephrolithiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003159","label":"Hyperoxaluria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100515","label":"Pollakisuria","frequency":"Very frequent (99-80%)","criteria":null}]}}