Term Name: | carboxypeptidase N deficiency |
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Synonyms: | anaphylotoxin inactivator deficiency, deficiency of carboxypeptidase B |
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. |
Ontology: | Human Disease [DOID:0111583] ( DOID:0111583 ) |