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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"
Hereditary xanthinuria
Classic xanthinuria · Xanthic urolithiasis
Mucopolysaccharidosis type 7
Beta-glucuronidase deficiency · MPS7
Steinert myotonic dystrophy
Myotonic dystrophy type 1 · Steinert disease
Systemic-onset juvenile idiopathic arthritis
Still disease · Systemic-onset JIA