Search Ontology:
Human Disease
carboxypeptidase N deficiency
- Term ID
- DOID:0111583
- Synonyms
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- 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
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- MESH:C562876
- MIM:212070
- NCI:C132196
- SNOMEDCT_US_2023_03_01:234627009
- UMLS_CUI:C0398782
- Ontology
- Human Disease ( DOID:0111583 )
- is a type of
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Genes Involved
Zebrafish Models