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"

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Trisomy 8q syndrome

Duplication 8q

ORPHA:1752

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

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