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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"
Multiple acyl-CoA dehydrogenase deficiency, mild type
MAD deficiency, mild type · MADD, mild type
Midline interhemispheric variant of holoprosencephaly
MIH · MIH type HPE
Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2 · Glutaric aciduria type 2