" /> Nephronophthisis 2 - CISMeF





Preferred Label : Nephronophthisis 2;

Symbol : NPHP2;

CISMeF acronym : NPHP2; NPH2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NPH2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the inversin gene (INVS, 243305.0001);

Laboratory abnormalities : Hyperkalemia; Elevated serum creatinine;

Prefixed ID : #602088;

Details


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04/05/2025


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