OBO ID: DOID:0111583 |
Term Name: | carboxypeptidase N deficiency | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0111583 ) |
OTHER carboxypeptidase N deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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