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nephronophthisis

Disease Summary
Associated Targets (22)
Tbio

20

Tchem

1

Tdark

1


GARD Rare
Mondo Description 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.
Disease Ontology Description An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
Mondo Term and Equivalent IDs
MONDO:0019005:  nephronophthisis
GARD:0000206: 
NCIT:C123200: 
OMIMPS:256100: 
Orphanet:655: 
UMLS:C0687120: 
UMLS:C2939174: