ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary elliptocytosis
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Accession:DOID:2373 term browser browse the term
Definition:An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.
Synonyms:exact_synonym: Hereditary Elliptocytoses;   Hereditary Ovalocytoses;   Hereditary Ovalocytosis;   Stomatocytic Elliptocytosis, Hereditary;   congenital elliptocytosis;   ovalocytosis
 primary_id: MESH:D004612
 alt_id: RDO:0005452
 xref: GARD:6621;   ORDO:288
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hereditary elliptocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epb41 erythrocyte membrane protein band 4.1 JBrowse link 5 150,081,727 150,243,186 RGD:8554872
RGD:13592920
RGD:11252097
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:11554173
RGD:8554872
RGD:13208947
G Spta1 spectrin, alpha, erythrocytic 1 JBrowse link 13 92,264,231 92,340,091 RGD:11059523
RGD:13592920
RGD:8554872
G Sptb spectrin, beta, erythrocytic JBrowse link 6 99,657,144 99,783,189 RGD:11554173
RGD:8554872
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:7240710
Elliptocytosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epb41 erythrocyte membrane protein band 4.1 JBrowse link 5 150,081,727 150,243,186 RGD:7240710
RGD:8554872
Elliptocytosis 2 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
Elliptocytosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptb spectrin, beta, erythrocytic JBrowse link 6 99,657,144 99,783,189 RGD:8554872
RGD:7240710
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ammecr1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 JBrowse link X 114,129,829 114,233,013 RGD:8554872
RGD:7240710
G Rtl9 retrotransposon Gag like 9 JBrowse link X 114,367,028 114,379,646 RGD:8554872
G Tmem164 transmembrane protein 164 JBrowse link X 113,947,355 114,110,064 RGD:8554872
Ovalocytosis, Malaysian-Melanesian-Filipino Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:7240710
RGD:10450479
RGD:8554872
Pyropoikilocytosis, Hereditary 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
G Sptb spectrin, beta, erythrocytic JBrowse link 6 99,657,144 99,783,189 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      hematopoietic system disease 1366
        hereditary elliptocytosis 8
          Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 1
          Elliptocytosis 1 1
          Elliptocytosis 2 1
          Elliptocytosis 3 1
          Elliptocytosis, Atypical 0
          Glyoxalase II Deficiency 0
          MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 3
          Ovalocytosis, Hereditary Hemolytic 0
          Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis 0
          Ovalocytosis, Malaysian-Melanesian-Filipino Type 1
          Pyropoikilocytosis, Hereditary 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Hemic and Lymphatic Diseases 1581
        hematopoietic system disease 1366
          anemia 367
            normocytic anemia 172
              hemolytic anemia 172
                congenital hemolytic anemia 123
                  hereditary elliptocytosis 8
                    Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 1
                    Elliptocytosis 1 1
                    Elliptocytosis 2 1
                    Elliptocytosis 3 1
                    Elliptocytosis, Atypical 0
                    Glyoxalase II Deficiency 0
                    MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 3
                    Ovalocytosis, Hereditary Hemolytic 0
                    Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis 0
                    Ovalocytosis, Malaysian-Melanesian-Filipino Type 1
                    Pyropoikilocytosis, Hereditary 2
paths to the root

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