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Human Disease

carboxypeptidase N deficiency

Term ID
DOID:0111583
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. (2)
References
Ontology
Human Disease   ( DOID:0111583 )
Relationships
is a type of
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Genes Involved
Zebrafish Models