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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"
Congenital lobar emphysema
Congenital lobar hyperinflation · Infantile lobar hyperinflation
Congenital central hypoventilation syndrome
CCHS · Ondine syndrome
Congenital Epstein-Barr virus infection
Antenatal Epstein-Barr virus infection · Mother-to-child transmission of Epstein-Barr virus infection
Congenital isolated hyperinsulinism
PHHI · Persistent hyperinsulinemic hypoglycemia of infancy
Congenital limb malformation
Congenital peritoneal encapsulation
CPE · Peritoneal encapsulation syndrome