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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:Calvarial Hyperostosis
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Accession:DOID:9006600 term browser browse the term
Synonyms:exact_synonym: Isolated hyperostosis of the calvarium
 primary_id: MESH:C537963
 alt_id: MIM:302030


show annotations for term's descendants           Sort by:
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: 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      musculoskeletal system disease 8492
        Musculoskeletal Abnormalities 3441
          Craniofacial Abnormalities 2766
            Calvarial Hyperostosis 1
              Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      Skin and Connective Tissue Diseases 7809
        connective tissue disease 5959
          bone disease 4413
            bone remodeling disease 507
              hyperostosis 72
                Calvarial Hyperostosis 1
                  Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
paths to the root