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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
 alt_id: OMIM:612714

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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 LOC101714003 cytochrome c oxidase subunit 4 isoform 2, mitochondrial ISO ClinVar Annotator: match by term: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis OMIM
ClinVar		 PMID:19268275 PMID:25741868 PMID:28492532 NCBI chrNW_004624741:852,104...863,660
Ensembl chrNW_004624741:850,551...861,313 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14092
    physical disorder 4609
      congenital hemolytic anemia 294
        congenital dyserythropoietic anemia 23
          Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
Path 2
Term Annotations click to browse term
  disease 14092
    disease of anatomical entity 13771
      Hemic and Lymphatic Diseases 3370
        hematopoietic system disease 2918
          anemia 679
            normocytic anemia 584
              hemolytic anemia 351
                congenital hemolytic anemia 294
                  congenital dyserythropoietic anemia 23
                    Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
paths to the root