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DO Term : carboxypeptidase N deficiency [DOID:0111583] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • deficiency of carboxypeptidase B,
  • OMIM:212070,
  • UMLS_CUI:C0398782,
  • SNOMEDCT_US_2023_03_01:234627009,
  • MESH:C562876,
  • NCI:C132196,
  • 212070,
  • anaphylotoxin inactivator deficiency
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