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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"
Hartnup disease
Aminoaciduria, Hartnup type · Hartnup disorder
Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
NEDMABA disorder · Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies
Dermis disorder
Tay-Sachs disease
Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant