MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
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rare renal tubular disease (MONDO:0019744)
..Starting node
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renal tubular transport disease ()

       Child Nodes:
........expandBartter syndrome ()
........expandDent disease ()
........expandfamilial renal glucosuria ()
........expandFanconi syndrome ()
........expandGitelman syndrome ()
........expandLiddle syndrome ()
........expandpseudohypoaldosteronism ()
........expandrenal hypomagnesemia 3 ()
........expandrenal tubular acidosis ()



 Sister Nodes: 
..expandAlstrom syndrome ()
..expandcranioectodermal dysplasia ()
..expandcystinuria (disease) ()
..expanddominant hypophosphatemia with nephrolithiasis or osteoporosis ()
..expandEAST syndrome ()
..expandfamilial juvenile hyperuricemic nephropathy type 2 ()
..expandfamilial primary hypomagnesemia ()
..expandhereditary renal hypouricemia ()
..expandhyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ()
..expandhypotonia-cystinuria syndrome type 1 ()
..expandidiopathic inherited hypercalciuria ()
..expandIgG4-related kidney disease ()
..expandJeune syndrome ()
..expandmitochondrial DNA depletion syndrome, hepatocerebrorenal form ()
..expandnephrogenic diabetes insipidus ()
..expandnephrogenic diabetes insipidus-intracranial calcification syndrome ()
..expandnephrogenic syndrome of inappropriate antidiuresis ()
..expandnephronophthisis (disease) ()
..expandoculocerebrorenal syndrome ()
..expandprimary renal tubular acidosis ()
..expandpseudohypoparathyroidism ()
..expandpsychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ()
..expandrenal tubular transport disease ()
..expandRHYNS syndrome ()
..expandSenior-Boichis syndrome ()
..expandSenior-Loken syndrome ()
..expandtubulointerstitial nephritis and uveitis syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6510
Name:renal tubular transport disease
Definition:Genetic defects in the selective or non-selective transport functions of the kidney tubules.
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Synonyms:disorder of renal absorption; disorder of renal absorption; inborn renal tubular transport disorder; kidney tubular transport, inborn error; kidney tubular transport, inborn errors; renal absorption disease; renal tubular transport errors; renal tubular transport, inborn error
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
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Phenotypes
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