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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) IAGP ClinVar Annotator: match by term: Acanthocytosis due to band 3 ht ClinVar PMID:1696010 PMID:2527366 PMID:8343110 PMID:28492532 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22315
    disease of anatomical entity 20855
      hematopoietic system disease 3505
        ACANTHOCYTOSIS 1
Path 2
Term Annotations click to browse term
  disease 22315
    disease of anatomical entity 20855
      Hemic and Lymphatic Diseases 4017
        hematopoietic system disease 3505
          ACANTHOCYTOSIS 1
paths to the root