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Prolidase deficiency
rareAn inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.
- Identifiers
- MONDO:0008221 OMIM:170100Orphanet:742
- Causal genes
- PEPD
- Also known as
- hyperimidodipeptiduria · Imidodipeptidase deficiency · Peptidase deficiency
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