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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"
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Feigenbaum-Bergeron-Richardson syndrome · Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome
Classic progressive supranuclear palsy syndrome
Steele-Richardson-Olszewski disease · Richardson syndrome
Richards-Rundle syndrome
Ketoaciduria-intellectual disability-ataxia-deafness syndrome · Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome
Sanjad-Sakati syndrome
HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome