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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"
MEGDEL syndrome
3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome · 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome
3-methylglutaconic aciduria
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Booth-Haworth-Dilling syndrome · Mitochondrial encephalomyopathy-aminoacidopathy syndrome