Otospondylomegaepiphyseal dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Autosomal dominant otospondylomegaepiphyseal dysplasia | 166100 | COL11A2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| COL2A1 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| Otospondylomegaepiphyseal dysplasia | 1427, C4520892 | COL11A2 | Causal Pathogenic evidence from ClinVar | 7859284, 9506662, 9805126, 10677296, 11668593, 14234962, 15141750, 15372529, 15558753, 15922184, 16637051, 19486694, 21204229, 21208667, 21438135, 22246659, 22796475, 25780254 | ClinVar |
| COL2A1 | Causal Pathogenic evidence from ClinVar | 16189708, 21922596 | ClinVar |