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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"
Creatine deficiency syndrome
CDS · Cerebral creatine deficiency syndrome
Neutral lipid storage disease with ichthyosis
NLSDI · Dorfman-Chanarin syndrome
Systemic primary carnitine deficiency
CDSP · CUD