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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 CPN1 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:212070
ClinVar Annotator: match by term: CARBOXYPEPTIDASE N DEFICIENCY
OMIM
ClinVar
PMID:7437116, PMID:12560874, PMID:24033266 NCBI chr 1:263,733,887...263,762,758
Ensembl chr 1:263,733,519...263,762,785
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          amino acid metabolic disorder 432
            carboxypeptidase N deficiency 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                carboxypeptidase N deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.