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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:delta beta-thalassemia
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Accession:DOID:0080773 term browser browse the term
Definition:A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. (DO)
Synonyms:exact_synonym: DELTA-PLUS-THALASSEMIA;   DELTA/BETA THALESSEMIA
 narrow_synonym: FETAL HEMOGLOBIN, A-GAMMA TYPE, REDUCTION IN;   Greek HPFH;   HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN;   HPFH;   Sardinian HPFH;   hereditary persistence of fetal hemoglobin, HB gene cluster-related;   hereditary persistence of hemoglobin F
 related_synonym: British HPFH;   FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1;   HBFQTL1;   THALASSEMIA, GAMMA-DELTA-BETA
 primary_id: MESH:C562716
 alt_id: OMIM:141749
 xref: NCI:C172823;   ORDO:231237
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
delta beta-thalassemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1
ClinVar Annotator: match by term: Delta-beta thalassemia
ClinVar Annotator: match by OMIM:141749
OMIM
ClinVar
PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:700140 More... NCBI chr 1:158,250,421...158,251,832 JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1
ClinVar Annotator: match by term: Delta-plus-thalassemia
ClinVar PMID:1398286 PMID:1742490 PMID:3401592 PMID:11939506 PMID:12402333 More... NCBI chr 1:158,224,175...158,231,675 JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin
ClinVar Annotator: match by term: Sardinian hpfh
ClinVar Annotator: match by OMIM:141749
ClinVar Annotator: match by term: Fetal hemoglobin, a-gamma type, reduction in
OMIM
ClinVar
PMID:811241 PMID:1373683 PMID:1374633 PMID:1379347 PMID:1487421 More... NCBI chr 1:158,271,993...158,273,371
Ensembl chr 1:158,271,873...158,273,425
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin
ClinVar
OMIM
PMID:25741868 PMID:27453576 PMID:28891213 PMID:31474318 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital hemolytic anemia 156
        thalassemia 90
          Delta-Thalassemia 4
            delta beta-thalassemia 4
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Hemic and Lymphatic Diseases 2337
        hematopoietic system disease 1914
          anemia 432
            normocytic anemia 202
              hemolytic anemia 202
                congenital hemolytic anemia 156
                  hemoglobinopathy 121
                    thalassemia 90
                      Delta-Thalassemia 4
                        delta beta-thalassemia 4
                          INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 1
paths to the root