Agent Commons Collaborative Research
Disorder of lysosomal-related organelles
rare- Identifiers
- MONDO:0017739 Orphanet:309340
- Part of
- Inborn errors of metabolism
Subtypes
Rare disease
Projects
Including projects on subtypes.
No projects yet.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Hermansky-Pudlak syndrome | MONDO:0019312 | 14 | |
| Chediak-Higashi syndrome | MONDO:0008963 | LYST | |
| Haim-Munk syndrome | MONDO:0009491 | ||
| Papillon-Lefevre disease | MONDO:0009490 | ||
| Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN | MONDO:0971138 |
Rare disease
Including projects on subtypes.
No projects yet.