| Metadata | |
|---|---|
| ID | DOID:0111583 |
| Name | carboxypeptidase N deficiency |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/12560874, https://www.ncbi.nlm.nih.gov/pubmed/7437116 |
| Xrefs |
SNOMEDCT_US_2023_03_01:234627009 |
| Subsets |
NCIthesaurus |
| Synonyms |
anaphylotoxin inactivator deficiency [EXACT] deficiency of carboxypeptidase B [EXACT] |
| Parent Relationships |