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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"
Ocular cystinosis
Adult-onset cystinosis · Non-nephropathic cystinosis
Cystinosis
Protein defect of cystin transport
Infantile nephropathic cystinosis
Juvenile nephropathic cystinosis
Intermediate cystinosis · Juvenile cystinosis
Sporadic idiopathic steroid-resistant nephrotic syndrome
Sporadic idiopathic nephrosis