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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:carboxypeptidase N deficiency
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Accession:DOID:0111583 term browser browse the term
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. (DO)
Synonyms:exact_synonym: anaphylotoxin inactivator deficiency;   deficiency of carboxypeptidase B
 primary_id: MESH:C562876
 alt_id: OMIM:212070
 xref: NCI:C132196


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carboxypeptidase N deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpn1 carboxypeptidase N subunit 1 ISO ClinVar Annotator: match by term: Anaphylotoxin inactivator deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7437116 PMID:12560874 PMID:24033266 NCBI chr 1:242,844,575...242,873,465
Ensembl chr 1:242,844,212...242,873,465 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          amino acid metabolic disorder 1525
            carboxypeptidase N deficiency 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                carboxypeptidase N deficiency 1
paths to the root