Nephronophthisis (Q46420)
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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 |
||
| 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) |
Statements
CID11:GB83
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dki-india-GB83
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Concluído
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13 August 2026
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