Rare Disease Library

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"

3 matching diseasesClear search ×

Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome

Stoelinga-de Koomen-Davis syndrome

ORPHA:2972

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

DAVID syndrome

ORPHA:293978

Koolen-De Vries syndrome

KdVS

ORPHA:96169