Pycnodysostosis
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Pseudodystonia | C0752208 | TOR1A | 23222958 |
| GLRA1 | 17114051 | ||
| GNAL | 23222958 | ||
| ALDH5A1 | 17438226 | ||
| PRKRA | 18243799 | ||
| KMT2B | |||
| THAP1 | 23222958 | ||
| Pycnodysostosis | C0238402, 763 | CTSK | 10074491, 27092432, 10878663, 21217630, 27604308, 9529353, 19674475, 23175007, 28328823, 15163881, 12874701, 8938428, 23786531, 21569238, 21099701, 10491211, 17206399, 8703060, 10634420, 22822386, 17397052, 24767306, 15070910, 10571690, 25731711, 11181082, 24269275 |