Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital hemolytic anemia 156
        hereditary spherocytosis 11
          hereditary spherocytosis type 4 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            bilirubin metabolic disorder 70
              Jaundice 38
                obstructive jaundice 24
                  hereditary spherocytosis 11
                    hereditary spherocytosis type 4 1
paths to the root