| Disease ID | Source | Name | Description |
| 214500 | OMIM | Chediak-Higashi syndrome (CHS) | A rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT). The disease is caused by variants affecting the gene represented in this entry. |