MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
expandinherited renal tubular disease (MONDO:0015962)
Parent Node:
expandrare renal tubular disease (MONDO:0019744)
..Starting node
..expandnephronophthisis (disease) ()

       Child Nodes:
........expandlate-onset nephronophthisis ()
........expandnephronophthisis 1 ()
........expandnephronophthisis 11 ()
........expandnephronophthisis 12 ()
........expandnephronophthisis 13 ()
........expandnephronophthisis 14 ()
........expandnephronophthisis 15 ()
........expandnephronophthisis 16 ()
........expandnephronophthisis 18 ()
........expandnephronophthisis 19 ()
........expandnephronophthisis 2 ()
........expandnephronophthisis 20 ()
........expandnephronophthisis 3 ()
........expandnephronophthisis 4 ()
........expandnephronophthisis 7 ()
........expandnephronophthisis 9 ()
........expandnephronophthisis-like nephropathy 1 ()



 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:19005
Name:nephronophthisis (disease)
Definition:Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.
Alternative IDs:
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Synonyms:medullary cystic disease; medullary cystic kidney; nephronophthisis
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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