Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

4 matching diseasesClear search ×

Chédiak-Higashi syndrome

Chédiak-Higashi disease · Chédiak-Higashi-Steinbrink syndrome

ORPHA:167

American trypanosomiasis

Chagas disease

ORPHA:3386

Attenuated Chédiak-Higashi syndrome

Atypical Chédiak-Higashi syndrome

ORPHA:352723

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

ORPHA:381