WormBase Tree Display for DO_term: DOID:0111583
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| DOID:0111583 | Name | carboxypeptidase N deficiency | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2. | ||||
| Synonym | Exact | anaphylotoxin inactivator deficiency | |||
| deficiency of carboxypeptidase B | |||||
| Parent | Is_a | DOID:2345 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 212070 | |
| Attribute_of | Gene_by_orthology | WBGene00001189 | |||
| WBGene00012073 |
