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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:Elliptocytosis 2
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Accession:DOID:9000941 term browser browse the term
Synonyms:exact_synonym: EL2;   Elliptocytosis, Rhesus-Unlinked Type
 primary_id: MESH:C565058
 alt_id: OMIM:130600


show annotations for term's descendants           Sort by:
Elliptocytosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Elliptocytosis 2 ClinVar NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE | ClinVar Annotator: match by term: Elliptocytosis 2		 OMIM
CTD
ClinVar		 PMID:1191563 PMID:1541680 PMID:1638030 PMID:1642244 PMID:1679439 More... NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital hemolytic anemia 348
        hereditary elliptocytosis 10
          Elliptocytosis 2 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          anemia 786
            normocytic anemia 679
              hemolytic anemia 418
                congenital hemolytic anemia 348
                  hereditary elliptocytosis 10
                    Elliptocytosis 2 2
paths to the root