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alfabetisk
| * 113811 COLLAGEN, TYPE XVII, ALPHA-1| COL17A1
Fundet i
omimdefinitions
| 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
Fundet i
omimdefinitions
| * 609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1| CYP17A1
Fundet i
omimdefinitions
| Spastic paraplegia 45, 613162 (3)
Fundet i
omimdefinitions
| * 612971 PDZ DOMAIN-CONTAINING 7| PDZD7
Fundet i
omimdefinitions
| Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)
Fundet i
omimdefinitions
| Papillorenal syndrome, 120330 (3)
Fundet i
omimdefinitions
| * 167409 PAIRED BOX GENE 2| PAX2
Fundet i
omimdefinitions
| Spastic paraplegia 45, autosomal recessive (2)
Fundet i
omimdefinitions
| Hermansky-Pudlak syndrome 6, 614075 (3)
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