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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:ACANTHOCYTOSIS
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Accession:DOID:9009133 term browser browse the term
Definition:A condition featuring the presence of a thorny or barbed appearance to red blood cells.
Synonyms:narrow_synonym: ACANTHOCYTOSIS DUE TO BAND 3 HT
For additional species annotation, visit the Alliance of Genome Resources.


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ACANTHOCYTOSIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Acanthocytosis due to band 3 ht ClinVar PMID:1696010, PMID:2527366, PMID:8343110 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      hematopoietic system disease 1643
        ACANTHOCYTOSIS 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Hemic and Lymphatic Diseases 2047
        hematopoietic system disease 1643
          ACANTHOCYTOSIS 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.