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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:Alpha-Thalassemia 2
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Accession:DOID:9002652 term browser browse the term
Synonyms:exact_synonym: Alpha plus thalassemia
 narrow_synonym: Alpha-thalassemia, dutch type
 related_synonym: Alpha+ Thalassemia;   Alpha+ Thalassemia, NOS;   HEMOGLOBIN EVANSTON;   HEMOGLOBIN RIO CLARO;   HEMOGLOBIN ZURICH ALBISRIEDEN
 primary_id: RDO:9000378
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Alpha-Thalassemia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Alpha plus thalassemia ClinVar PMID:11791872 NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Alpha plus thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN ZURICH ALBISRIEDEN ClinVar PMID:8237999 PMID:8943885 PMID:12603095 PMID:15481895 PMID:15658192 More... NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO ClinVar PMID:10335985 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
JBrowse link
Alpha-Thalassemia-2, Nondeletional term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:8237999 PMID:9029003 PMID:10569720 PMID:19636270 PMID:20147853 More... NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN PLASENCIA | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:1281602 PMID:1581238 PMID:1634361 PMID:2298455 PMID:2372512 More... NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital hemolytic anemia 176
        thalassemia 102
          alpha thalassemia 69
            Alpha-Thalassemia 2 3
              Alpha-Thalassemia-2, Nondeletional 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Hemic and Lymphatic Diseases 3149
        hematopoietic system disease 2693
          anemia 637
            normocytic anemia 223
              hemolytic anemia 223
                congenital hemolytic anemia 176
                  hemoglobinopathy 133
                    thalassemia 102
                      alpha thalassemia 69
                        Alpha-Thalassemia 2 3
                          Alpha-Thalassemia-2, Nondeletional 2
paths to the root