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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"
Keratolytic winter erythema
Erythrokeratolysis hiemalis · Oudtshoorn disease
Classic eosinophilic pustular folliculitis
Ofuji disease · Classic EPF
Congenital factor V deficiency
Owren disease · Parahemophilia
IgG4-related retroperitoneal fibrosis
Ormond disease · Idiopathic retroperitoneal fibrosis
Mitochondrial oxidative phosphorylation disorder
OXPHOS disease
Oguchi disease
Congenital stationary night blindness, Oguchi type · Oguchi syndrome
Ollier disease
Multiple Enchondromatosis type I · Enchondromatosis Spranger type I