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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spherocytosis type 3
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Accession:DOID:0110918 term browser browse the term
Definition:A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTA1 on chromosome 1q23.1. (DO)
Synonyms:exact_synonym: HS3;   SPH3;   SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE;   Spherocytosis, Type 3;   hereditary spherocytosis 3
 primary_id: MESH:C567489
 alt_id: OMIM:270970;   RDO:0015550
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hereditary spherocytosis type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spta1 spectrin, alpha, erythrocytic 1 JBrowse link 13 92,264,231 92,340,091 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          congenital hemolytic anemia 125
            hereditary spherocytosis 10
              hereditary spherocytosis type 3 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      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 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.