DO_rare_slim NCIthesaurus has material basis in autosomal recessive disease prolidase deficiency An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. MESH:D056732 UMLS_CUI:C0268532 MIM:170100 DOID:0111540 NCI:C85029 SNOMEDCT_US_2025_09_01:360994007 ORDO:742 GARD:7473 disease_ontology hyperimidodipeptiduria imidodipeptidase deficiency peptidase deficiency amino acid metabolic disorder autosomal recessive inheritance