|OBO ID: DOID:0111583|
|Term Name:||carboxypeptidase N deficiency||Search Ontology:|
|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 CPN1 on chromosome 10q24.2. (2)|
|Ontology:||Human Disease (DOID:0111583)|
|is a type of:||
OTHER carboxypeptidase N deficiency PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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