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carboxypeptidase N deficiency - Ontology Report - Rat Genome Database

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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: CPND;   anaphylotoxin inactivator deficiency;   deficiency of carboxypeptidase B
 xref: MESH:C562876;   MIM:212070;   MONDO:08910;   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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anaphylotoxin inactivator deficiency | ClinVar Annotator: match by term: Deficiency of carboxypeptidase B		 OMIM
CTD
ClinVar		 PMID:7437116 PMID:12560874 PMID:24033266 PMID:25741868 PMID:38445235 NCBI chr 1:252,793,786...252,822,675
Ensembl chr 1:242,844,212...242,873,465 		JBrowse link
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Path 1
Term Annotations click to browse term
  disease 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        inherited metabolic disorder 6628
          amino acid metabolic disorder 1593
            carboxypeptidase N deficiency 1
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal recessive disease 7136
                carboxypeptidase N deficiency 1
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