Disease ID | Source | Name | Description |
212070 | OMIM | Carboxypeptidase N deficiency (CPND) | Patients affected present some combination of angioedema or chronic urticaria, as well as hay fever or asthma, and have also slightly depressed serum carboxy peptidase N, suggestive of autosomal recessive inheritance of this disorder. The disease is caused by variants affecting the gene represented in this entry. |