OBO ID: DOID:0111540
Term Name: prolidase deficiency Search Ontology:
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 PEPD on chromosome 19q13.11. (3)
References:
Ontology: Human Disease   (DOID:0111540)
OTHER prolidase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PEPD Prolidase deficiency 170100
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None