Isolated growth hormone deficiency
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Isolated growth hormone deficiency type IA | 231662 | GH1 | |
| RNPC3 | |||
| Isolated growth hormone deficiency type IB | 231671 | GH1 | |
| GHRHR | |||
| Isolated growth hormone deficiency type II | 231679 | GH1 | |
| POU1F1 | |||
| Isolated Growth Hormone Deficiency, Type IB | C2748571 | GH1 | 19762173, 12655557, 22139958 |
| GHRHR | 19762173, 22139958 | ||
| Isolated Growth Hormone Deficiency, Type II | C0271567 | CSHL1 | |
| GH1 | 22139958, 19762173, 11502836, 9152628 | ||
| POU1F1 | 26612202 | ||
| ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV | C4722273 | CSHL1 | |
| GH1 | |||
| GHRHR | 9467553, 10084571, 12534354, 8528260, 11232012 | ||
| ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V | C4748435 | GH1 | 22139958, 19762173 |
| RNPC3 | 29255062, 24480542 |