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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"
Medium chain acyl-CoA dehydrogenase deficiency
ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
Megalencephaly-capillary malformation-polymicrogyria syndrome
MCAP · MCM
Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2 · Glutaric aciduria type 2