ONTOLOGY REPORT - ANNOTATIONS

Term:Anemia, Hemolytic, Congenital
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Accession:RDO:0000333 term browser browse the term
Definition:Hemolytic anemia due to various intrinsic defects of the erythrocyte.
Synonyms:exact_synonym: Congenital Hemolytic Anemias;   Hereditary Hemolytic Anemia;   Hereditary Hemolytic Anemias
 primary_id: MESH:D000745
 alt_id: OMIM:111700

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Anemia, Hemolytic, Congenital term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Bpgm 2,3-bisphosphoglycerate mutase GBrowse link Susceptibility ISS 4 61,858,884 61,888,007 RGD:1600522 RGD
G Gpi glucose-6-phosphate isomerase GBrowse link ISS 1 86,658,836 86,686,712 RGD:1600631 RGD
G Gpi glucose-6-phosphate isomerase GBrowse link ISS 1 86,658,836 86,686,712 RGD:1600632 RGD
G Gsr glutathione reductase GBrowse link ISS 16 62,255,562 62,298,458 RGD:1600697 RGD
G Hbb hemoglobin, beta GBrowse link ISS 1 161,618,782 161,620,193 RGD:1600886 RGD
G Hbb hemoglobin, beta GBrowse link ISS 1 161,618,782 161,620,193 RGD:1600889 RGD
alpha-Thalassemia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Atrx alpha thalassemia/mental retardation syndrome X-linked GBrowse link ISS X 93,903,794 94,051,337 RGD:704404 RGD
G Hba1 hemoglobin, alpha 1 GBrowse link ISS 10 15,584,360 15,585,215 RGD:1600818 RGD
G Hba1 hemoglobin, alpha 1 GBrowse link ISS 10 15,584,360 15,585,215 RGD:1599361 RGD
G Hba1 hemoglobin, alpha 1 GBrowse link ISS 10 15,584,360 15,585,215 RGD:7240710 OMIM
G Hba2 hemoglobin, alpha 2 GBrowse link ISS 10 15,570,930 15,571,773 RGD:7240710 OMIM
Alpha-Thalassemia Myelodysplasia Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Atrx alpha thalassemia/mental retardation syndrome X-linked GBrowse link ISS X 93,903,794 94,051,337 RGD:7240710 OMIM
Anemia, Dyserythropoietic, Congenital term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cdan1 codanin 1 GBrowse link Susceptibility ISS 3 107,495,860 107,508,249 RGD:1600473 RGD
G Cdan1 codanin 1 GBrowse link ISS 3 107,495,860 107,508,249 RGD:7240710 OMIM
G Gata1 GATA binding protein 1 GBrowse link ISS X 26,564,259 26,572,081 RGD:704404 RGD
G Klf1 Kruppel-like factor 1 (erythroid) GBrowse link ISS 19 24,906,887 24,910,058 RGD:7240710 OMIM
Anemia, Hemolytic, Congenital Nonspherocytic term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G G6pd glucose-6-phosphate dehydrogenase GBrowse link ISS X 160,186,450 160,192,316 RGD:1599812 RGD
G Gpi glucose-6-phosphate isomerase GBrowse link ISS 1 86,658,836 86,686,712 RGD:1600633 RGD
G Hk1 hexokinase 1 ISS RGD:1601519 RGD
G Tpi1 triosephosphate isomerase 1 GBrowse link ISS 4 160,933,341 160,936,871 RGD:7240710 OMIM
Anemia, Sickle Cell term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cd36 CD36 molecule (thrombospondin receptor) GBrowse link ISS 4 13,471,878 13,525,620 RGD:6893506 RGD
G Hbb hemoglobin, beta GBrowse link ISS 1 161,618,782 161,620,193 RGD:1600892 RGD
G Hbb hemoglobin, beta GBrowse link ISS 1 161,618,782 161,620,193 RGD:7240710 OMIM
G Nppb natriuretic peptide B GBrowse link Severity ISS 5 165,062,348 165,063,650 RGD:5685653 RGD
G Pgf placental growth factor GBrowse link ISS 6 109,215,540 109,226,122 RGD:6483588 RGD
G Selp selectin P GBrowse link ISS 13 79,886,614 79,922,180 RGD:6219007 RGD
ATR-X syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Atrx alpha thalassemia/mental retardation syndrome X-linked GBrowse link ISS X 93,903,794 94,051,337 RGD:7240710 OMIM
beta-Thalassemia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hbb hemoglobin, beta GBrowse link ISS 1 161,618,782 161,620,193 RGD:704404 RGD
G Hbb hemoglobin, beta GBrowse link ISS 1 161,618,782 161,620,193 RGD:1600893 RGD
G Hbb hemoglobin, beta GBrowse link ISS 1 161,618,782 161,620,193 RGD:1600895 RGD
G Hbb hemoglobin, beta GBrowse link ISS 1 161,618,782 161,620,193 RGD:7240710 OMIM
G Hbg1 hemoglobin, gamma A GBrowse link Severity ISS 1 161,640,359 161,641,737 RGD:1600575 RGD
BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hbb hemoglobin, beta GBrowse link ISS 1 161,618,782 161,620,193 RGD:7240710 OMIM
Elliptocytosis 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Epb4.1 erythrocyte membrane protein band 4.1 GBrowse link ISS 5 150,782,245 150,908,888 RGD:7240710 OMIM
Elliptocytosis 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Spta1 spectrin, alpha, erythrocytic 1 (elliptocytosis 2) GBrowse link ISS 13 89,951,924 90,028,592 RGD:7240710 OMIM
Elliptocytosis, Hereditary term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Epb4.1 erythrocyte membrane protein band 4.1 GBrowse link ISS 5 150,782,245 150,908,888 RGD:1598914 RGD
G Epb4.1 erythrocyte membrane protein band 4.1 GBrowse link ISS 5 150,782,245 150,908,888 RGD:7240710 OMIM
G Hagh hydroxyacyl glutathione hydrolase GBrowse link ISS 10 14,106,047 14,117,459 RGD:7240710 OMIM
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 GBrowse link ISS 10 91,454,824 91,471,072 RGD:7240710 OMIM
G Spta1 spectrin, alpha, erythrocytic 1 (elliptocytosis 2) GBrowse link ISS 13 89,951,924 90,028,592 RGD:1599111 RGD
G Sptb spectrin, beta, erythrocytic GBrowse link ISS 6 99,194,202 99,315,691 RGD:1599118 RGD
G Sptb spectrin, beta, erythrocytic GBrowse link ISS 6 99,194,202 99,315,691 RGD:7240710 OMIM
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cox4i2 cytochrome c oxidase subunit IV isoform 2 (lung) GBrowse link ISS 3 143,103,348 143,114,236 RGD:7240710 OMIM
Glucosephosphate Dehydrogenase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G G6pd glucose-6-phosphate dehydrogenase GBrowse link ISS X 160,186,450 160,192,316 RGD:7240710 OMIM
Heinz Body Anemias term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hba1 hemoglobin, alpha 1 GBrowse link ISS 10 15,584,360 15,585,215 RGD:7240710 OMIM
G Hba2 hemoglobin, alpha 2 GBrowse link ISS 10 15,570,930 15,571,773 RGD:7240710 OMIM
G Hbb hemoglobin, beta GBrowse link ISS 1 161,618,782 161,620,193 RGD:7240710 OMIM
Hemoglobin C Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hbb hemoglobin, beta GBrowse link ISS 1 161,618,782 161,620,193 RGD:1600890 RGD
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gpi glucose-6-phosphate isomerase GBrowse link ISS 1 86,658,836 86,686,712 RGD:7240710 OMIM
Hydrops Fetalis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Sftpa1 surfactant protein A1 GBrowse link ISS 16 17,570,887 17,574,389 RGD:4143453 RGD
HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lbr lamin B receptor GBrowse link ISS 13 97,814,439 97,834,860 RGD:7240710 OMIM
Majeed syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lpin2 lipin 2 GBrowse link ISS 9 110,380,692 110,484,329 RGD:7240710 OMIM
Pyropoikilocytosis, Hereditary term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Spta1 spectrin, alpha, erythrocytic 1 (elliptocytosis 2) GBrowse link ISS 13 89,951,924 90,028,592 RGD:7240710 OMIM
Pyruvate Kinase Deficiency of Red Cells term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pklr pyruvate kinase, liver and RBC GBrowse link ISS 2 181,214,853 181,223,505 RGD:7240710 OMIM
Sickle Cell Trait term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hp haptoglobin GBrowse link ISS 19 39,443,016 39,447,566 RGD:5147440 RGD
G Hp haptoglobin GBrowse link ISS 19 39,443,016 39,447,566 RGD:5147416 RGD
Spherocytosis, Hereditary term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ank1 ankyrin 1, erythrocytic GBrowse link ISS 16 73,333,564 73,437,926 RGD:1578350 RGD
G Ank1 ankyrin 1, erythrocytic GBrowse link ISS 16 73,333,564 73,437,926 RGD:7240710 OMIM
G Epb42 erythrocyte membrane protein band 4.2 GBrowse link ISS 3 107,806,273 107,824,496 RGD:1598910 RGD
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 GBrowse link ISS 10 91,454,824 91,471,072 RGD:1599007 RGD
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 GBrowse link ISS 10 91,454,824 91,471,072 RGD:7240710 OMIM
G Sptb spectrin, beta, erythrocytic GBrowse link ISS 6 99,194,202 99,315,691 RGD:7240710 OMIM
Spherocytosis, Type 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ank1 ankyrin 1, erythrocytic GBrowse link ISS 16 73,333,564 73,437,926 RGD:7240710 OMIM
Spherocytosis, Type 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Spta1 spectrin, alpha, erythrocytic 1 (elliptocytosis 2) GBrowse link ISS 13 89,951,924 90,028,592 RGD:7240710 OMIM
Spherocytosis, Type 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 GBrowse link ISS 10 91,454,824 91,471,072 RGD:7240710 OMIM
Spherocytosis, Type 5 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Epb42 erythrocyte membrane protein band 4.2 GBrowse link ISS 3 107,806,273 107,824,496 RGD:7240710 OMIM
Thalassemia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hba1 hemoglobin, alpha 1 GBrowse link ISS 10 15,584,360 15,585,215 RGD:7240710 OMIM
G Hba2 hemoglobin, alpha 2 GBrowse link ISS 10 15,570,930 15,571,773 RGD:7240710 OMIM
THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gata1 GATA binding protein 1 GBrowse link ISS X 26,564,259 26,572,081 RGD:7240710 OMIM
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gata1 GATA binding protein 1 GBrowse link ISS X 26,564,259 26,572,081 RGD:7240710 OMIM
Term paths to the root
Path 1
Term Annotations click to browse term
  Diseases 30477
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities 3907
      Genetic Diseases, Inborn 2878
        Anemia, Hemolytic, Congenital 70
          Anemia, Dyserythropoietic, Congenital + 7
          Anemia, Hemolytic, Congenital Nonspherocytic + 5
          Anemia, Sickle Cell + 8
          Anemia, hereditary spherocytic hemolytic 0
          Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema 0
          Elliptocytosis, Hereditary + 10
          Glucosephosphate Dehydrogenase Deficiency + 1
          HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 1
          Heinz Body Anemias 3
          Hemoglobin C Disease + 1
          Hemolytic Anemia, Congenital, with Emphysema and Cutis Laxa 0
          Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 0
          PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK 0
          Red cell phospholipid defect with hemolysis 0
          Rh-Null Disease, Amorph Type 0
          Spherocytosis, Hereditary + 10
          Stomatocytosis I 0
          Stomatocytosis II 0
          Thalassemia + 18
          Transient erythroblastopenia of childhood 0
          Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 0
          Xerocytosis, hereditary 0
Path 2
Term Annotations click to browse term
  Diseases 30477
    Hemic and Lymphatic Diseases 909
      Hematologic Diseases 650
        Anemia 212
          Anemia, Hemolytic 111
            Anemia, Hemolytic, Congenital 70
              Anemia, Dyserythropoietic, Congenital + 7
              Anemia, Hemolytic, Congenital Nonspherocytic + 5
              Anemia, Sickle Cell + 8
              Anemia, hereditary spherocytic hemolytic 0
              Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema 0
              Elliptocytosis, Hereditary + 10
              Glucosephosphate Dehydrogenase Deficiency + 1
              HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 1
              Heinz Body Anemias 3
              Hemoglobin C Disease + 1
              Hemolytic Anemia, Congenital, with Emphysema and Cutis Laxa 0
              Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 0
              PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK 0
              Red cell phospholipid defect with hemolysis 0
              Rh-Null Disease, Amorph Type 0
              Spherocytosis, Hereditary + 10
              Stomatocytosis I 0
              Stomatocytosis II 0
              Thalassemia + 18
              Transient erythroblastopenia of childhood 0
              Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 0
              Xerocytosis, hereditary 0
paths to the root

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