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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"
Connective tissue dysplasia, Spellacy type
Spellacy-Gibbs-Watts syndrome
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Xia-Gibbs syndrome
Watson syndrome
Pulmonic stenosis with 'café-au-lait' spots