Disease association ontology term - MONDO:0008963 - Chediak-Higashi syndrome
Term summary
- ID
- MONDO:0008963
- Name
- Chediak-Higashi syndrome
- Ontology or CV name
- Disease association
- Definition
- A rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding (caused by giant lysosome‑related organelles in multiple hematopoietic cells), neurological dysfunction and lymphoproliferative disorder. Affected individuals commonly develop progressive immune dysregulation, and many experience an accelerated phase resembling hemophagocytic lymphohistiocytosis, which can be life‑threatening. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.
