Prolidase Deficiency
Disease ID: disease_node_12268
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| Dbxref | GARD:7473, MESH:D056732, MIM:170100, NCI:C85029, ORDO:742, SNOMEDCT_US_2023_03_01:360994007, UMLS_CUI:C0268532 |
|---|---|
| Subclassof | DOID_0050737, DOID_9252 |
| Data Source | DOID, MESH |
| Synonyms | hyperimidodipeptiduria, imidodipeptidase deficiency, peptidase deficiency |
| Mesh Id | D056732 |
| Mesh Label | Prolidase Deficiency |
| Mesh Subclassof | D000015, D012873, D012868, D000592 |
| Doid Label | prolidase deficiency |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_12268 |
| Doid Id | DOID_0111540 |
| Label | Prolidase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)