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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spherocytosis type 1
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Accession:DOID:0110916 term browser browse the term
Definition:A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of ANK1 on chromosome 8p11.21. (DO)
Synonyms:exact_synonym: HS1;   SPH;   SPH1;   hereditary spherocytosis 1;   spherocytosis type 1, autosomal recessive
 primary_id: MESH:C567159
 alt_id: OMIM:182900;   RDO:0015308
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hereditary spherocytosis type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Add2 adducin 2 JBrowse link 4 117,691,294 117,887,556 RGD:13592920
G Ank1 ankyrin 1 JBrowse link 16 73,681,422 73,912,605 RGD:7240710
RGD:8554872
G Epb42 erythrocyte membrane protein band 4.2 JBrowse link 3 112,967,095 112,985,318 RGD:13592920
G Spta1 spectrin, alpha, erythrocytic 1 JBrowse link 13 92,264,231 92,340,091 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          congenital hemolytic anemia 125
            hereditary spherocytosis 10
              hereditary spherocytosis type 1 4
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Hemic and Lymphatic Diseases 1723
        hematopoietic system disease 1451
          anemia 376
            normocytic anemia 175
              hemolytic anemia 175
                congenital hemolytic anemia 125
                  hereditary spherocytosis 10
                    hereditary spherocytosis type 1 4
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