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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"
Aplasia cutis-myopia syndrome
Gershoni-Baruch-Leibo syndrome
Ataxia-telangiectasia
Louis-Bar syndrome
Baller-Gerold syndrome
Barth syndrome
3-methylglutaconic aciduria type 2 · BTHS
Gerstmann syndrome
Leigh syndrome
Infantile subacute necrotizing encephalopathy · Leigh disease
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Gershoni-Baruch syndrome