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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"
Aminoacylase 1 deficiency
ACY1D · N-acyl-L-amino acid amidohydrolase deficiency
Acyl-CoA dehydrogenase deficiency
Aminoacylase deficiency
Aromatic L-amino acid decarboxylase deficiency
AADC deficiency
Canavan disease
ACY2 deficiency · Aminoacylase 2 deficiency
Farber disease
Acid ceramidase deficiency · Farber lipogranulomatosis