carboxypeptidase N deficiency
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
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carboxypeptidase N deficiency
Summary
carboxypeptidase N deficiency is a rare disease[1].
Key Facts
- carboxypeptidase N deficiency's instance of is recorded as rare disease[2].
- carboxypeptidase N deficiency's instance of is recorded as class of disease[3].
- carboxypeptidase N deficiency's subclass of is recorded as autosomal recessive disease[4].
- carboxypeptidase N deficiency's subclass of is recorded as plasma protein metabolism disease[5].
- carboxypeptidase N deficiency's MeSH descriptor ID is recorded as C562876[6].
- carboxypeptidase N deficiency's OMIM ID is recorded as 212070[7].
- carboxypeptidase N deficiency's KEGG ID is recorded as H01136[8].
- carboxypeptidase N deficiency's Disease Ontology ID is recorded as DOID:0111583[9].
- carboxypeptidase N deficiency's ICD-9-CM is recorded as 279.8[10].
- carboxypeptidase N deficiency's NCI Thesaurus ID is recorded as C132196[11].
- carboxypeptidase N deficiency's genetic association is recorded as CPN1[12].
- carboxypeptidase N deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111583[13].
- carboxypeptidase N deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0111583[14].
- carboxypeptidase N deficiency's UMLS CUI is recorded as C0398782[15].
- carboxypeptidase N deficiency's Mondo ID is recorded as MONDO_0008910[16].
- carboxypeptidase N deficiency's UniProt disease ID is recorded as DI-01316[17].