PKHD1
Deellabo: | PGD DNA |
Gen (Gen Code): | PKHD1 |
Aliases Gen: | FCYT; ARPKD; TIGM1; FLJ46150; DKFZp686C01112; PKHD1 |
Gen ID (NCBI): | 5314 |
OMIM Gen ID: | 606702 |
Chromosomale locatie: | 6p12.2 |
Genetische aandoening / Analyse: | Polycystische nierziekte, autosomaal recessieve (ARPKD) |
OMIM aandoening ID: | 263200 |
Overerving: | AR |
Aliases aandoening: | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1 POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PKD3, FORMERLY |