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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"
Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification · Idiopathic obliterative arteriopathy
GM1 gangliosidosis type 1
Infantile GM1 gangliosidosis · Norman-Landing disease
Kostmann syndrome
Infantile agranulocytosis · Severe congenital neutropenia type 3