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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"
Branchiogenic deafness syndrome
Mégarbané-Loiselet syndrome · Branchiogenic hearing loss syndrome
Laryngo-onycho-cutaneous syndrome
LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
Oculocerebrorenal syndrome of Lowe
Lowe disease · Lowe oculo-cerebro-renal syndrome