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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 16085
    physical disorder 2526
      congenital hemolytic anemia 136
        hereditary spherocytosis 11
          hereditary spherocytosis type 4 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            bilirubin metabolic disorder 67
              Jaundice 37
                obstructive jaundice 22
                  hereditary spherocytosis 11
                    hereditary spherocytosis type 4 1
paths to the root