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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:Stomatocytosis II
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Accession:DOID:9004927 term browser browse the term
Synonyms:primary_id: MESH:C566110;   RDO:0014567
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Stomatocytosis II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Stomatocytosis II ClinVar PMID:25741868 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Stomatocytosis II ClinVar PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 More... NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    physical disorder 5116
      congenital hemolytic anemia 369
        Stomatocytosis II 2
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      Hemic and Lymphatic Diseases 4133
        hematopoietic system disease 3635
          anemia 955
            normocytic anemia 437
              hemolytic anemia 437
                congenital hemolytic anemia 369
                  Stomatocytosis II 2
paths to the root