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Metadata
ID DOID:0111540
Name prolidase 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.
https://ghr.nlm.nih.gov/condition/prolidase-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/18340504, https://www.ncbi.nlm.nih.gov/pubmed/1972707
Xrefs

GARD:7473

MESH:D056732

NCI:C85029

OMIM:170100

ORDO:742

SNOMEDCT_US_2020_09_01:360994007

UMLS_CUI:C0268532

Synonyms

hyperimidodipeptiduria [EXACT]

imidodipeptidase deficiency [EXACT]

peptidase deficiency [EXACT]

Parent Relationships

is_a amino acid metabolic disorder

is_a autosomal recessive disease

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