FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term prolidase deficiency ID (Ontology) DOID:0111540 (Human Disease)
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.
Also Known As "hyperimidodipeptiduria" ; "imidodipeptidase deficiency" ; "peptidase deficiency"
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 Genes
 prolidase deficiency       1
 for disease ribbon | prolidase deficiency       1
 model of | prolidase deficiency       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
inherited metabolic disorder       |
 |__amino acid metabolic disorder__|
                                   prolidase deficiency  1 rec.
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Is a autosomal recessive disease
amino acid metabolic disorder
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Synonyms
  • "hyperimidodipeptiduria" EXACT
    "imidodipeptidase deficiency" EXACT
    "peptidase deficiency" EXACT
Secondary IDs
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GARD:7473
MESH:D056732
MIM:170100
NCI:C85029
ORDO:742
SNOMEDCT_US_2023_03_01:360994007
UMLS_CUI:C0268532