Nephronophthisis

Orpha code: 655OMIM code: 615862

Definicja

A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset.

Disease data
Klasyfikacja

Disease

Kod ORPHA
655
Kod OMIM
615862
Kod ICD10
Q61.5
Kod ICD11
GB83

No additional description.

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