Disease #04154 (NPHL (nephrolithiasis))

Official abbreviation NPHL
Name nephrolithiasis
OMIM ID -
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 3 genes CLCN5, SLC26A6, SLC9A3R1
Associated tissues -
Disease features -
Remarks -
Date created 2014-12-03 13:17:46 +01:00 (CET)
Date last edited 2022-10-23 21:40:24 +02:00 (CEST)


Individuals

1 entry on 1 page. Showing entry 1.
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00419867 patient PubMed: Corniere 2022 2-generation family, affected father/daughter F no United Kingdom (Great Britain) - - - - - NPHL see paper - SLC26A6 1 2 Johan den Dunnen
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