Hereditary hyperferritinemia with congenital cataracts
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Hereditary hyperferritinemia-cataract syndrome | 163 | FTL | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Hyperferritinemia, hereditary, with congenital cataracts | C1833213 | FTL | Causal Pathogenic evidence from ClinVar | 2336358, 7493028, 9226182, 9414313, 10383191, 10759702, 11849230, 19176363, 19800271, 22881709, 23421845 | ClinVar |