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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:overhydrated hereditary stomatocytosis
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Accession:DOID:0111562 term browser browse the term
Definition:A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in RHAG on chromosome 6p12.3. (DO)
Synonyms:exact_synonym: OHS;   OHST;   Stomatocytosis I;   potassium-sodium disorder of erythrocyte;   stomatocytosisIOHST
 primary_id: MESH:C566111
 alt_id: OMIM:185000
 xref: GARD:4183;   ORDO:3203
For additional species annotation, visit the Alliance of Genome Resources.



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overhydrated hereditary stomatocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhag Rh-associated glycoprotein ISO ClinVar Annotator: match by term: Stomatocytosis I
ClinVar Annotator: match by term: Overhydrated hereditary stomatocytosis
OMIM
ClinVar
PMID:1174702 PMID:2765409 PMID:2917122 PMID:13762977 PMID:18931342 More... NCBI chr 9:20,069,800...20,097,836
Ensembl chr 9:20,069,807...20,097,836
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    physical disorder 3093
      congenital hemolytic anemia 156
        overhydrated hereditary stomatocytosis 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      Hemic and Lymphatic Diseases 2332
        hematopoietic system disease 1913
          anemia 431
            normocytic anemia 202
              hemolytic anemia 202
                congenital hemolytic anemia 156
                  overhydrated hereditary stomatocytosis 1
paths to the root