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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-Thalassemia
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Accession:DOID:9008244 term browser browse the term
Definition:A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA.
Synonyms:exact_synonym: Delta-0-Thalassemia;   delta-Thalassemias
 narrow_synonym: DELTA-ZERO-THALASSEMIA, KNOSSOS TYPE
 related_synonym: HEMOGLOBIN A(2) GROVETOWN;   HEMOGLOBIN A(2) YIALOUSA
 primary_id: MESH:D055538;   RDO:0007711
For additional species annotation, visit the Alliance of Genome Resources.


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Delta-Thalassemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Delta-0-thalassemia
ClinVar Annotator: match by term: delta Thalassemia
ClinVar Annotator: match by term: Delta-zero-thalassemia, knossos type
ClinVar Annotator: match by term: Delta-thalassemia
ClinVar PMID:1301204 PMID:1309671 PMID:1398286 PMID:1515647 PMID:1742490 PMID:2018846 PMID:3401592 PMID:3676110 PMID:8118467 PMID:8330984 PMID:8364213 PMID:11939506 PMID:12402333 PMID:16434382 PMID:18221842 PMID:20678137 PMID:23215833 PMID:23806011 PMID:24601842 PMID:24985928 PMID:27387985 NCBI chr 1:168,945,531...168,953,023
Ensembl chr 1:168,945,449...168,965,566
JBrowse link
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 OMIM:141749
OMIM
ClinVar
PMID:49057 PMID:81926 PMID:88735 PMID:750553 PMID:909565 PMID:1177278 PMID:1186896 PMID:1244906 PMID:1301203 PMID:1353069 PMID:1376298 PMID:1390250 PMID:1427786 PMID:1428944 PMID:1463768 PMID:1483699 PMID:1610915 PMID:1634236 PMID:1634368 PMID:1734721 PMID:1769663 PMID:1802884 PMID:1917531 PMID:1967205 PMID:1986365 PMID:2004023 PMID:2079437 PMID:2200760 PMID:2296310 PMID:2298457 PMID:2307460 PMID:2446680 PMID:2467892 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2713503 PMID:2867271 PMID:2887538 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2895770 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 PMID:3048433 PMID:3170235 PMID:3354556 PMID:3422218 PMID:3462712 PMID:3557993 PMID:3557998 PMID:3623977 PMID:3690667 PMID:3752087 PMID:3821796 PMID:3957690 PMID:4078867 PMID:4232783 PMID:4991321 PMID:5050915 PMID:5672850 PMID:6019668 PMID:6162860 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6280057 PMID:6285354 PMID:6304979 PMID:6322284 PMID:6434492 PMID:6457059 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585831 PMID:6695908 PMID:6714226 PMID:6826539 PMID:6896219 PMID:7151176 PMID:7312624 PMID:7338475 PMID:7522523 PMID:7558878 PMID:7668219 PMID:7993409 PMID:8091935 PMID:8095930 PMID:8199597 PMID:8330981 PMID:8373896 PMID:8435318 PMID:8462981 PMID:8602996 PMID:8619407 PMID:8917506 PMID:9048934 PMID:9101288 PMID:9113933 PMID:9140720 PMID:9401495 PMID:9490703 PMID:9845707 PMID:9859938 PMID:10335989 PMID:10602954 PMID:10612821 PMID:11300348 PMID:11545326 PMID:11559932 PMID:11741197 PMID:11830454 PMID:11857746 PMID:11880644 PMID:11939510 PMID:12000828 PMID:12124399 PMID:12144056 PMID:12144057 PMID:12383672 PMID:12403491 PMID:12709369 PMID:12764548 PMID:13066514 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13590135 PMID:13852872 PMID:13872094 PMID:14160125 PMID:14576320 PMID:15108284 PMID:15181845 PMID:15654898 PMID:16001361 PMID:16291734 PMID:16311287 PMID:16370495 PMID:16470532 PMID:16540414 PMID:17287491 PMID:17331080 PMID:17365006 PMID:17932132 PMID:18048408 PMID:18192399 PMID:18294253 PMID:18603555 PMID:19000664 PMID:19061217 PMID:19254853 PMID:19429541 PMID:19657842 PMID:19727720 PMID:19758965 PMID:19958184 PMID:19958185 PMID:20110664 PMID:20132300 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20492708 PMID:20642331 PMID:20704537 PMID:20861612 PMID:20954261 PMID:21119755 PMID:21131035 PMID:21194265 PMID:21228398 PMID:21302591 PMID:21389146 PMID:21417574 PMID:21529713 PMID:21797703 PMID:22010933 PMID:22028795 PMID:22075726 PMID:22188014 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22625666 PMID:22975760 PMID:23162295 PMID:23234478 PMID:23321370 PMID:23348723 PMID:23425204 PMID:23590658 PMID:23637309 PMID:23647352 PMID:23729725 PMID:24033266 PMID:24055728 PMID:24099628 PMID:24200214 PMID:24245819 PMID:24401016 PMID:24493127 PMID:24616059 PMID:24814631 PMID:24857915 PMID:25000193 PMID:25016698 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25113778 PMID:25135424 PMID:25155404 PMID:25332589 PMID:25480500 PMID:25525159 PMID:25572186 PMID:25666204 PMID:25741868 PMID:25818823 PMID:25849334 PMID:25856402 PMID:26029792 PMID:26084319 PMID:26097845 PMID:26193974 PMID:26275168 PMID:26290351 PMID:26291967 PMID:26372199 PMID:26436569 PMID:26467025 PMID:27263053 PMID:27427187 PMID:27690257 PMID:27821015 PMID:28356267 PMID:28366028 PMID:28379995 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28670940 PMID:28865746 PMID:29484903 PMID:29695942 PMID:30311386 PMID:31714438 PMID:32581362 PMID:32860008 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
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 PMID:15921167 PMID:16434382 NCBI chr 1:168,945,531...168,953,023
Ensembl chr 1:168,945,449...168,965,566
JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO 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 PMID:1698280 PMID:1704803 PMID:1990287 PMID:2224140 PMID:2276623 PMID:2417646 PMID:2423160 PMID:2430647 PMID:2441598 PMID:2451123 PMID:2452784 PMID:2469505 PMID:3033668 PMID:3181130 PMID:3377986 PMID:3401591 PMID:9703422 NCBI chr 1:168,992,841...168,994,219
Ensembl chr 1:168,992,722...168,994,253
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:10744719 PMID:11161790 PMID:11347906 PMID:12196208 PMID:12717432 PMID:15465497 PMID:15548577 PMID:16704730 PMID:17021036 PMID:17964244 PMID:19616629 PMID:20623620 PMID:22491945 PMID:22542183 PMID:23230003 PMID:24267886 PMID:24810580 PMID:25363760 PMID:25533962 PMID:25741868 PMID:25938782 PMID:25979662 PMID:26182416 PMID:27453576 PMID:28589569 PMID:28891213 PMID:28960836 PMID:31474318 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          congenital hemolytic anemia 139
            thalassemia 74
              Delta-Thalassemia 4
                delta beta-thalassemia + 4
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Hemic and Lymphatic Diseases 2069
        hematopoietic system disease 1655
          anemia 418
            normocytic anemia 183
              hemolytic anemia 183
                congenital hemolytic anemia 139
                  hemoglobinopathy 105
                    thalassemia 74
                      Delta-Thalassemia 4
                        delta beta-thalassemia + 4
paths to the root