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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"
Intermittent maple syrup urine disease
Intermittent BCKD deficiency · Intermittent MSUD
Acute intermittent porphyria
Intermediate maple syrup urine disease
Intermediate BCKD deficiency · Intermediate MSUD
Intermittent hydrarthrosis
Intermittent neutropenia
Lupus erythematosus tumidus
Intermittent cutaneous lupus