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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:Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
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Accession:DOID:9005288 term browser browse the term
Synonyms:primary_id: MESH:C567195;   RDO:0015336
 alt_id: OMIM:612714
For additional species annotation, visit the Alliance of Genome Resources.


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Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i2 cytochrome c oxidase subunit 4i2 ISO ClinVar Annotator: match by OMIM:612714
DNA:mutation:cds:c.412G>A (p.E138K)(human)
OMIM
ClinVar
PMID:19268275, PMID:19268275 RGD:11344905 NCBI chr 3:148,234,546...148,245,424
Ensembl chr 3:148,234,193...148,245,416
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        pancreas disease 1098
          exocrine pancreatic insufficiency 13
            Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Hemic and Lymphatic Diseases 2067
        hematopoietic system disease 1653
          anemia 417
            normocytic anemia 182
              hemolytic anemia 182
                congenital hemolytic anemia 138
                  congenital dyserythropoietic anemia 9
                    Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 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.