| 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 the PEPD gene on chromosome 19q13.11. https://ghr.nlm.nih.gov/condition/prolidase-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/1972707, https://www.ncbi.nlm.nih.gov/pubmed/18340504 |
| Xrefs |
SNOMEDCT_US_2023_03_01:360994007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
hyperimidodipeptiduria [EXACT] imidodipeptidase deficiency [EXACT] peptidase deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |