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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:hereditary spherocytosis type 4
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Accession:DOID:0110919 term browser browse the term
Definition:A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31. (DO)
Synonyms:exact_synonym: HS4;   SPH4;   hereditary spherocytosis 4;   spherocytosis type 4
 primary_id: MESH:C567208
 alt_id: OMIM:612653


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hereditary spherocytosis type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:612653
ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4		 CTD
MouseDO
ClinVar		 PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital hemolytic anemia 348
        hereditary spherocytosis 13
          hereditary spherocytosis type 4 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      gastrointestinal system disease 7096
        hepatobiliary disease 3068
          biliary tract disease 540
            bile duct disease 496
              cholestasis 342
                obstructive jaundice 27
                  hereditary spherocytosis 13
                    hereditary spherocytosis type 4 1
paths to the root