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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:autoimmune hemolytic anemia
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Accession:DOID:718 term browser browse the term
Definition:A hemolytic anemia that is characterized by deficient red blood cells caused by auto-antibodies. (DO)
Synonyms:exact_synonym: AIHA;   Autoimmune Hemolytic Anemias;   Cold Agglutinin Disease;   Cold Agglutinin Diseases;   Cold Antibody Disease;   Cold Antibody Diseases;   Cold Antibody Hemolytic Anemia;   acquired autoimmune hemolytic anemia;   acquired idiopathic hemolytic anemia;   autoimmune haemolytic anaemia;   autoimmune hemolytic anaemia;   idiopathic autoimmune hemolytic anemia
 primary_id: MESH:D000744
 alt_id: MIM:205700
 xref: EFO:1001264;   GARD:5870;   ICD9CM:283.0;   NCI:C34378
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
autoimmune hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:polymorphism:exon:49G>A(p.T17A)(human) RGD PMID:12555221 RGD:11352242 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:18209093 PMID:9834201 RGD:11040887, RGD:11054970 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:12093879 RGD:11049457 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:6427987 NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:8325343 RGD:10450476 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Idiopathic autoimmune hemolytic anemia ClinVar PMID:32853638 PMID:33087723 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Tlr8 toll-like receptor 8 ISO ClinVar Annotator: match by term: Autoimmune hemolytic anemia ClinVar PMID:25741868 PMID:33512449 PMID:34981838 NCBI chr  X:27,091,780...27,116,092
Ensembl chr  X:27,091,778...27,116,549 		JBrowse link
G Tslp thymic stromal lymphopoietin ISS OMIM:205700 MouseDO NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548 		JBrowse link
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bivm basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 9:46,268,758...46,305,038
Ensembl chr 9:46,269,252...46,305,024 		JBrowse link
G Ccdc168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 9:46,198,234...46,236,325
Ensembl chr 9:46,198,635...46,235,936 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900 		JBrowse link
G Mettl21c methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 9:46,130,451...46,145,128
Ensembl chr 9:46,134,001...46,145,112 		JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 9:46,256,388...46,268,714
Ensembl chr 9:46,256,390...46,268,532 		JBrowse link
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475 		JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 9:46,243,416...46,252,273
Ensembl chr 9:46,242,748...46,252,249 		JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25414442 PMID:25640679 More... NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157 		JBrowse link
Immuno-Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Immuno-hemolytic anemia ClinVar PMID:32853638 PMID:33087723 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    syndrome 11180
      primary immunodeficiency disease 4306
        autoimmune disease 2365
          autoimmune disease of blood 50
            autoimmune hemolytic anemia 17
              CANOMAD Syndrome 0
              Dressler's syndrome 0
              Evans' syndrome + 9
              Immuno-Hemolytic Anemia 1
              Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 0
              Spastic Paraplegia and Evans Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      Hemic and Lymphatic Diseases 4041
        hematopoietic system disease 3529
          anemia 859
            normocytic anemia 753
              hemolytic anemia 431
                autoimmune hemolytic anemia 17
                  CANOMAD Syndrome 0
                  Dressler's syndrome 0
                  Evans' syndrome + 9
                  Immuno-Hemolytic Anemia 1
                  Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 0
                  Spastic Paraplegia and Evans Syndrome 0
paths to the root