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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:protein-losing enteropathy
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Accession:DOID:10611 term browser browse the term
Definition:Pathological conditions in the INTESTINES that are characterized by the gastrointestinal loss of serum proteins, including SERUM ALBUMIN; IMMUNOGLOBULINS; and at times LYMPHOCYTES. Severe condition can result in HYPOGAMMAGLOBULINEMIA or LYMPHOPENIA. Protein-losing enteropathies are associated with a number of diseases including INTESTINAL LYMPHANGIECTASIS; WHIPPLE'S DISEASE; and NEOPLASMS of the SMALL INTESTINE.
Synonyms:exact_synonym: CHAPLE;   COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY;   Exudative Enteropathies;   Exudative Enteropathy;   Idiopathic Hypercatabolic Hypoproteinemia;   Idiopathic Hypercatabolic Hypoproteinemias;   protein-losing enteropathies
 primary_id: MESH:D011504;   RDO:0006422
 alt_id: OMIM:226300
For additional species annotation, visit the Alliance of Genome Resources.


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protein-losing enteropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd55 CD55 molecule (Cromer blood group) ISO ClinVar Annotator: match by term: Enteropathy, protein-losing ClinVar
OMIM
PMID:28657829, PMID:28657861 NCBI chr13:47,125,156...47,153,557
Ensembl chr13:47,126,741...47,154,292
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Protein-losing enteropathy ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      gastrointestinal system disease 4632
        intestinal disease 1514
          protein-losing enteropathy 2
            Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      gastrointestinal system disease 4632
        Gastrointestinal Diseases 2552
          intestinal disease 1514
            protein-losing enteropathy 2
              Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 0
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.