Disease ID | Source | Name | Description |
170100 | OMIM | Prolidase deficiency (PD) | A multisystem disorder associated with massive iminodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. Clinical features include skin ulcers, developmental delay, recurrent infections, and a characteristic facies. The disease is caused by variants affecting the gene represented in this entry. |