Distal hereditary motor neuronopathy
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA | C1834692 | HSPB8 | 28144995, 15122253, 26718575, 23389032 |
| Distal hereditary motor neuropathy type 7 | C4749653, 139589 | DCTN1 | 12627231 |
| SLC5A7 | 23141292 | ||
| Hereditary Motor Neuronopathy | C3661519 | SMN1 | 19150990, 21819082, 15862279, 27111068, 21350916 |
| SMN2 | 21350916 | ||
| TRPV4 | 22187434 | ||
| Distal hereditary motor neuropathy type 2 | 139525 | HSPB1 | |
| HSPB8 | |||
| HSPB3 | |||
| FBXO38 | |||
| Distal hereditary motor neuropathy type 5 | 139536 | REEP1 | |
| BSCL2 | |||
| GART | |||
| Distal hereditary motor neuropathy, Jerash type | 139552 | SIGMAR1 | |
| Distal Hereditary Motor Neuropathy, Type II | C3711384 | HSPB1 | 15122254 |
| HSPB3 | 20142617 | ||
| HSPB8 | 15122253 | ||
| FBXO38 | 24207122 | ||
| Young adult-onset distal hereditary motor neuropathy | 314485 | DNAJB2 | |
| Autosomal recessive lower motor neuron disease with childhood onset | 206580 | PLEKHG5 | |
| Lower motor neuron syndrome with late-adult onset | 276435 | CHCHD10 | |
| NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY | C4693390 | TRAPPC6B | 1693664, 28397838 |