Alkaptonuria
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Alkaptonuria | 56, C0002066 | HGD | Causal Pathogenic evidence from ClinVar | 8188247, 8782815, 9154114, 9529363, 9630082, 9674916, 10205262, 10340975, 10465119, 10482952, 10594001, 10970188, 11001939, 12051967, 12114497, 12501223, 12872836, 13271328, 16085442, 19096913, 19862842, 20462779, 21437689, 21720873, 23353776, 23430897, 23519186, 25233259, 25525159, 25681086, 25804398, 27026014, 27604308 | ClinVar |
| Ochronosis, hereditary | C2931645 | HGD | Causal Pathogenic evidence from ClinVar | 8188247, 8782815, 9154114, 9529363, 9674916, 13271328 | ClinVar |