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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
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Accession:DOID:0111575 term browser browse the term
Definition:A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes. (DO)
Synonyms:exact_synonym: DHS;   desiccytosis gardos;   hereditary desiccytosis;   hereditary xerocytosis;   xerocytosis gardos
 primary_id: MESH:C536764
 xref: GARD:5623;   ORDO:3202


show annotations for term's descendants           Sort by:
dehydrated hereditary stomatocytosis 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DESICCYTOSIS GARDOS 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
dehydrated hereditary stomatocytosis 1 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 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr 1:89,084,306...89,102,279
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: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
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 Annotator: match by term: KCNN4-related condition OMIM
ClinVar		 PMID:652816 PMID:687829 PMID:4851153 PMID:6473461 PMID:11323678 More... NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    physical disorder 5203
      congenital hemolytic anemia 365
        dehydrated hereditary stomatocytosis 2
          dehydrated hereditary stomatocytosis 1 2
          dehydrated hereditary stomatocytosis 2 1
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      Hemic and Lymphatic Diseases 4336
        hematopoietic system disease 3844
          anemia 866
            normocytic anemia 756
              hemolytic anemia 432
                congenital hemolytic anemia 365
                  dehydrated hereditary stomatocytosis 2
                    dehydrated hereditary stomatocytosis 1 2
                    dehydrated hereditary stomatocytosis 2 1
paths to the root