Nephronophthisis (Q46420): Difference between revisions
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Revision as of 14:59, 13 August 2026
Autosomal recessive disease characterised by polyuria, polydipsia, enuresis and chronic kidney disease with end stage renal failure occurring between birth and late adolescence depending on the NPHP gene involved. Extra-renal manifestations occur with associated multisystem genetic disorders (e.g. Senior-Loken, Cogan, Joubert)
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | GB83 |
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| English | Nephronophthisis |
Autosomal recessive disease characterised by polyuria, polydipsia, enuresis and chronic kidney disease with end stage renal failure occurring between birth and late adolescence depending on the NPHP gene involved. Extra-renal manifestations occur with associated multisystem genetic disorders (e.g. Senior-Loken, Cogan, Joubert) |
