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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"
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
FHHNC with severe ocular involvement · Hypercalciuria-bilateral macular coloboma syndrome
Coloboma of macula-brachydactyly type B syndrome
Sorsby syndrome
Foix-Chavany-Marie syndrome
Bilateral anterior opercular syndrome · Facio-pharyngo-glosso-masticatory diplegia
Macular coloboma-cleft palate-hallux valgus syndrome