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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"
Chronic visceral acid sphingomyelinase deficiency
Chronic visceral ASMD · Niemann-Pick disease type B
Chronic neurovisceral acid sphingomyelinase deficiency
Chronic neurovisceral ASMD · Niemann-Pick disease type A/B
Infantile neurovisceral acid sphingomyelinase deficiency
Infantile neurovisceral ASMD · Niemann-Pick disease type A