carboxypeptidase N deficiency
http://purl.obolibrary.org/obo/MONDO_0008910
An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity. [ NCIT:C132196 ]
Term info
- MESH:C562876 (MONDO:equivalentTo)
- NCIT:C132196 (MONDO:equivalentTo)
- DOID:0111583 (MONDO:equivalentTo)
- SCTID:234627009 (MONDO:equivalentTo)
- UMLS:C0398782 (OMIM:212070)
- OMIM:212070 (MONDO:equivalentTo)
- ICD9:279.8 (MONDO:relatedTo)
An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.
https://omim.org/entry/212070, http://identifiers.org/mesh/C562876, http://purl.obolibrary.org/obo/DOID_0111583, http://purl.obolibrary.org/obo/NCIT_C132196, http://identifiers.org/snomedct/234627009, http://linkedlifedata.com/resource/umls/id/C0398782
carboxypeptidase N deficiency
MONDO:0008910