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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:exact_synonym: COX4I2-RELATED CONDITION;   Pancreatic insufficiency-anemia-hyperostosis syndrome
 xref: GARD:17095;   MESH:C567195;   MIM:612714;   MONDO:0012992



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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 DNA:mutation:cds:c.412G>A (p.E138K)(human)
ClinVar Annotator: match by term: COX4I2-related condition | ClinVar Annotator: match by term: Pancreatic insufficiency-anemia-hyperostosis syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:19268275 PMID:25741868 PMID:28492532 PMID:19268275 RGD:11344905 NCBI chr 3:141,228,443...141,239,337
Ensembl chr 3:141,228,443...141,239,331
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    physical disorder 5192
      congenital hemolytic anemia 365
        congenital dyserythropoietic anemia 33
          Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      Hemic and Lymphatic Diseases 4330
        hematopoietic system disease 3839
          anemia 866
            normocytic anemia 756
              hemolytic anemia 432
                congenital hemolytic anemia 365
                  congenital dyserythropoietic anemia 33
                    Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
paths to the root