Human disease

Chediak-Higashi syndrome

MONDO:0008963

Mondo defines it as: “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.”

1 disease group in OMIA reaches this disease, through OMIA's own Mondo link or its OMIM numbers. The page shows the chain. It does not say whether an animal is a model of this disease.

Animal diseases

By natural-model score for this disease, highest first. The score says how complete and how well supported each chain is, by stated rules. How the score works.

Human genes

Each human gene of these disease groups that Open Targets links to this disease.

Drugs tested for this disease

Each ChEMBL drug that has been tested for this disease, and the human genes above it acts on, if any. Open Targets gives some drugs, such as most enzyme replacement therapies, no target gene.

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.