Search Ontology:
Human Disease

prolidase deficiency

Term ID
DOID:0111540
Synonyms
  • hyperimidodipeptiduria
  • imidodipeptidase deficiency
  • peptidase deficiency
Definition
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. (3)
References
Ontology
Human Disease   ( DOID:0111540 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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