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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"
Retinal macular dystrophy type 2
MCDR2
Beta-mercaptolactate cysteine disulfiduria
Ampola syndrome · MCDU
Macular corneal dystrophy
Corneal dystrophy Groenouw type II · Fehr corneal dystrophy
Multicystic dysplastic kidney
MCDK · Multicystic renal dysplasia
Multiple carboxylase deficiency
MCD
North Carolina macular dystrophy
CAPE dystrophy · CAPED