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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"
Pulmonary valve agenesis
Congenital absence of the pulmonary valve · PVA
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
APV/ADA, Fallot type · Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome
Polycythemia vera
Acquired primary erythrocytosis · Osler-Vaquez disease