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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:dehydrated hereditary stomatocytosis 2
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Accession:DOID:0111577 term browser browse the term
Definition:A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in KCNN4 on chromosome 19q13.31. (DO)
Synonyms:exact_synonym: DHS2
 primary_id: OMIM:616689
For additional species annotation, visit the Alliance of Genome Resources.


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dehydrated hereditary stomatocytosis 2 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: Dehydrated hereditary stomatocytosis 2 ClinVar
OMIM
PMID:652816, PMID:687829, PMID:4851153, PMID:6473461, PMID:26148990, PMID:26178367, PMID:26198474 NCBI chr 1:81,227,855...81,245,986
Ensembl chr 1:81,230,612...81,245,996
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          congenital hemolytic anemia 133
            dehydrated hereditary stomatocytosis 2
              dehydrated hereditary stomatocytosis 2 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Hemic and Lymphatic Diseases 2046
        hematopoietic system disease 1641
          anemia 405
            normocytic anemia 175
              hemolytic anemia 175
                congenital hemolytic anemia 133
                  dehydrated hereditary stomatocytosis 2
                    dehydrated hereditary stomatocytosis 2 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.