About   Help   FAQ
Disease Ontology Browser
carboxypeptidase N deficiency (DOID:0111583)
Alliance: disease page
Synonyms: anaphylotoxin inactivator deficiency; deficiency of carboxypeptidase B
Alt IDs: OMIM:212070, MESH:C562876, NCI:C132196, UMLS_CUI:C0398782
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/26/2020
MGI 6.15
The Jackson Laboratory