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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 SLC4A1 on chromosome 17q21.31. (DO)
Synonyms:exact_synonym: HS4;   SPH4;   hereditary spherocytosis 4;   spherocytosis type 4
 primary_id: MESH:C567208
 alt_id: OMIM:612653;   RDO:0015347
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    physical disorder 2960
      congenital hemolytic anemia 138
        hereditary spherocytosis 11
          hereditary spherocytosis type 4 1
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        genetic disease 8408
          inherited metabolic disorder 2447
            bilirubin metabolic disorder 67
              Jaundice 38
                obstructive jaundice 24
                  hereditary spherocytosis 11
                    hereditary spherocytosis type 4 1
paths to the root