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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"
Dermatitis herpetiformis
Duhring-Brocq disease
Best vitelliform macular dystrophy
BMD · BVMD
Brill-Zinsser disease
Brill disease · Recrudescent typhus
Cushing disease
Corticotroph pituitary adenoma · Pituitary corticotroph micro-adenoma
Dysbetalipoproteinemia
Remnant hyperlipoproteinemia · HLP type 3
GM1 gangliosidosis
Beta-galactosidase-1 deficiency · GLB1 deficiency
Histoplasmosis
Darling disease