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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"
Progressive bulbar paralysis of childhood
Fazio-Londe disease · Progressive bulbar palsy of childhood
Erythema palmare hereditarium
Lane disease · Red palms disease
Fabry disease
Alpha-galactosidase A deficiency · Anderson-Fabry disease
Farber disease
Acid ceramidase deficiency · Farber lipogranulomatosis
Infantile mercury poisoning
Erythroedema polyneuritis · Feer disease
Leigh syndrome
Infantile subacute necrotizing encephalopathy · Leigh disease
Lyme disease
Lyme borreliosis
Oculocerebrorenal syndrome of Lowe
Lowe disease · Lowe oculo-cerebro-renal syndrome
Osteogenesis imperfecta
Brittle bone disease · Glass bone disease