Disease-gene associations mined from literature

Human genes for prolidase deficiency

Prolidase deficiency [DOID:0111540]

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 PEPD on chromosome 19q13.11.

Synonyms:  prolidase deficiency,  DOID:0111540,  prolidase deficiencies,  hyperimidodipeptiduria,  imidodipeptidase deficiency ...