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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"
DITRA
Deficiency of IL-36R antagonist · Deficiency of IL-36Ra
Apolipoprotein A-I deficiency
ApoA-I deficiency · Familial apoA-I deficiency
Pyridoxine-dependent-developmental and epileptic encephalopathy
Antiquitin deficiency · Vitamin B6-dependent seizures
Sterile multifocal osteomyelitis with periostitis and pustulosis
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency · DIRA