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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 the RHAG gene on chromosome 6p12.3. (DO)
Synonyms:exact_synonym: OHS;   OHST;   Stomatocytosis I;   potassium-sodium disorder of erythrocyte;   stomatocytosisIOHST
 broad_synonym: RHAG-RELATED CONDITION
 primary_id: MESH:C566111
 alt_id: OMIM:185000
 xref: GARD:4183;   ORDO:3203


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Overhydrated hereditary stomatocytosis | ClinVar Annotator: match by term: RHAG-related condition		 OMIM
CTD
ClinVar		 PMID:19831342 PMID:21859730 PMID:23967154 PMID:25741868 PMID:28492532 NCBI chr 9:20,069,800...20,097,836
Ensembl chr 9:20,069,807...20,097,836 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital hemolytic anemia 348
        overhydrated hereditary stomatocytosis 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3850
        hematopoietic system disease 3340
          anemia 783
            normocytic anemia 676
              hemolytic anemia 418
                congenital hemolytic anemia 348
                  overhydrated hereditary stomatocytosis 1
paths to the root