| NPHT_001 | Alport syndrome | 4 genes |
| NPHT_002 | Bartter syndrome | 6 genes |
| NPHT_003 | Defects in calcium homeostasis (eg: Hypocalcemia) | 1 gene |
| NPHT_004 | Defects in magnesium homeostasis (eg: Gitelman syndrome, Hypomagnesemia, Isolated renal hypomagnesemia) | 8 genes |
| NPHT_005 | Defects in renal phosphate handling (eg: Hypophosphatemia, Hypophosphatemic rickets, Hyperphosphatemic tumoral calcinosis) | 11 genes |
| NPHT_006 | Defects of renal handling of amino acids (eg: Cystinuria, Dicarboxylic aminoaciduria, Hyperglycinuria) | 7 genes |
| NPHT_007 | Fanconi syndrome (eg: Dent disease, Lowe syndrome, PEPCK deficiency) | 15 genes |
| NPHT_008 | Focal segmental glomerulosclerosis | 9 genes |
| NPHT_009 | Hyperoxaluria | 3 genes |
| NPHT_010 | Meckel syndrome | 10 genes |
| NPHT_011 | Medullary cystic kidney disease (eg: Renal cysts and diabetes syndrome, Medullary cystic kidney disease) | 3 genes |
| NPHT_012 | Nephrogenic diabetes insipidus | 2 genes |
| NPHT_013 | Nephropathies (eg: Nephronophthisis, Nephrotic syndrome, Nephrolithiasis, Pierson syndrome) | 44 genes |
| NPHT_014 | Polycystic kidney disease (eg: Polycystic kidney disease, Gillessen-Kaesbach-Nishimura syndrome) | 7 genes |
| NPHT_015 | Renal uricosuria and uricemia (eg: Cystinosis, Fabry disease, Lesch-Nyhan syndrome) | 25 genes |
| NPHT_016 | Pseudohypoaldosteronism (eg: Liddle syndrome, Pseudohypoaldosteronism) | 8 genes |
| NPHT_017 | Renal diseases of glucose handling (eg: Fanconi-Bickel Syndrome, glucose/galactose malabsorption, Renal glycosuria) | 5 genes |
| NPHT_018 | Renal tubular acidosis | 5 genes |
| NPHT_019 | Renal tubular dysgenesis | 3 genes |
| NPHT_020 | Ureteral Disorder (eg: Vesicoureteral Reflux) | 9 genes |
| NPHT_021 | Zellweger syndrome | 13 genes |
| NPHT_022 | Atypical hemolytic uremic syndrome | 10 genes |
| NPHT_023 | Others Renal disorders (eg: Barakat syndrome, Townes-Brocks Syndrome, SERKAL syndrome, Renal-hepatic-pancreatic dysplasia) | 45 genes |
