{"orpha":183592,"name":"Genetic renal tubular disease","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-183592/","orphanet_url":"https://www.orpha.net/en/disease/detail/183592","names":{"fr":{"name":"Néphropathie tubulaire génétique"},"de":{"name":"Renal-tubuläre Störung, genetisch bedingte"},"es":{"name":"Nefropatía tubular de origen genético"},"it":{"name":"Tubulopatia renale genetica"},"nl":{"name":"Genetische renale tubulaire ziekte"},"pt":{"name":"Doença tubular renal genética"},"pl":{"name":"Choroba kanalików nerkowych uwarunkowana genetycznie"},"cs":{"name":"Geneticky podmíněná onemocnění ledvinných tubulů"},"uk":{"name":"Генетично обумовлена хвороба ниркових канальців"},"zh":{"name":"遗传性肾小管疾病"},"tr":{"name":"Genetik renal tübüler hastalık"}},"xrefs":[{"source":"MONDO","code":"15962","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680544","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":98056,"name":"Rare genetic renal disease","classifications":[156]}],"children":[{"orpha":64,"name":"Alström syndrome","type":"Disease"},{"orpha":223,"name":"Arginine vasopressin resistance","type":"Disease"},{"orpha":3145,"name":"Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome","type":"Disease"},{"orpha":544628,"name":"Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome","type":"Disease"},{"orpha":34528,"name":"Autosomal dominant primary hypomagnesemia with hypocalciuria","type":"Disease"},{"orpha":34149,"name":"Autosomal dominant tubulointerstitial kidney disease","type":"Disease"},{"orpha":112,"name":"Bartter syndrome","type":"Disease"},{"orpha":1380,"name":"Cataract-nephropathy-encephalopathy syndrome","type":"Malformation syndrome"},{"orpha":214,"name":"Cystinuria","type":"Disease"},{"orpha":199343,"name":"EAST syndrome","type":"Disease"},{"orpha":620368,"name":"EGF-related primary hypomagnesemia with intellectual disability","type":"Disease"},{"orpha":358,"name":"Gitelman syndrome","type":"Disease"},{"orpha":620371,"name":"Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation","type":"Disease"},{"orpha":94088,"name":"Hereditary renal hypouricemia","type":"Malformation syndrome"},{"orpha":324525,"name":"Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation","type":"Disease"},{"orpha":363694,"name":"Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome","type":"Disease"},{"orpha":528105,"name":"Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome","type":"Disease"},{"orpha":437,"name":"Hypophosphatemic rickets","type":"Clinical group"},{"orpha":238517,"name":"Hypotonia-cystinuria type 1 syndrome","type":"Clinical group"},{"orpha":2197,"name":"Idiopathic hypercalciuria","type":"Disease"},{"orpha":199326,"name":"Isolated autosomal dominant hypomagnesemia, Glaudemans type","type":"Disease"},{"orpha":474,"name":"Jeune syndrome","type":"Malformation syndrome"},{"orpha":73224,"name":"Kidney tubulopathy-dilated cardiomyopathy syndrome","type":"Disease"},{"orpha":688581,"name":"Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome","type":"Malformation syndrome"},{"orpha":363534,"name":"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form","type":"Disease"},{"orpha":93606,"name":"Nephrogenic syndrome of inappropriate antidiuresis","type":"Disease"},{"orpha":534,"name":"Oculocerebrorenal syndrome of Lowe","type":"Malformation syndrome"},{"orpha":3337,"name":"Primary Fanconi renotubular syndrome","type":"Disease"},{"orpha":306516,"name":"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis","type":"Disease"},{"orpha":30924,"name":"Primary hypomagnesemia with secondary hypocalcemia","type":"Disease"},{"orpha":620363,"name":"Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome","type":"Disease"},{"orpha":564178,"name":"Primary hypomagnesemia-refractory seizures-intellectual disability syndrome","type":"Disease"},{"orpha":314822,"name":"Primary renal tubular acidosis","type":"Clinical group"},{"orpha":756,"name":"Pseudohypoaldosteronism type 1","type":"Disease"},{"orpha":97593,"name":"Pseudohypoparathyroidism","type":"Category"},{"orpha":505242,"name":"Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}