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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"
PLCG2-associated antibody deficiency and immune dysregulation
FACU · Familial atypical cold urticaria
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
APLAID
Infantile neuroaxonal dystrophy
INAD · INAD1
PLA2G6-associated neurodegeneration
PLAN