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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:pancytopenia
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Accession:DOID:12450 term browser browse the term
Definition:Deficiency of all three cell elements of the blood, erythrocytes, leukocytes and platelets.
Synonyms:exact_synonym: Pancytopenias
 primary_id: MESH:D010198
 alt_id: RDO:0002567
 xref: ICD10CM:D61.81;   ICD9CM:284.1;   NCI:C34889;   NCI:C80693
For additional species annotation, visit the Alliance of Genome Resources.


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pancytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Pancytopenia ClinVar PMID:7711730 PMID:9600456 PMID:10090476 PMID:12410208 PMID:12707442 PMID:15622536 PMID:16996287 PMID:17936304 PMID:22975760 PMID:25741868 PMID:28492532 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9051142 PMID:17505274 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21310276 NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:12750163 RGD:11041567 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:9051142 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Fancc FA complementation group C ISO Low dose of mitomycin C 0.3mg/kg RGD PMID:9531583, PMID:10627482 RGD:11045793, RGD:11045794 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
JBrowse link
G Mocos molybdenum cofactor sulfurase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29935280 NCBI chr18:16,590,086...16,636,312
Ensembl chr18:16,590,197...16,636,084
JBrowse link
G Rpl27a ribosomal protein L27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr 1:174,132,798...174,135,816
Ensembl chr 1:174,132,798...174,135,816
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Pancytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21346251 NCBI chr10:65,728,508...65,741,708
Ensembl chr10:65,733,991...65,740,828
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Pancytopenia ClinVar PMID:1631137 PMID:1978757 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9242456 PMID:9598730 PMID:9825943 PMID:11051239 PMID:12826609 PMID:16489069 PMID:17417627 PMID:17427234 PMID:17606709 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20522432 PMID:21343334 PMID:22265402 PMID:22713868 PMID:23172776 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25741868 PMID:25925845 PMID:26467025 PMID:26619011 PMID:26787237 PMID:27374712 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:31775759 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Pancytopenia ClinVar PMID:1351039 PMID:1358785 PMID:1997217 PMID:2002274 PMID:2063870 PMID:2237288 PMID:2320592 PMID:2349941 PMID:2590199 PMID:2646319 PMID:3030336 PMID:3229002 PMID:3627183 PMID:3934968 PMID:7868124 PMID:8698351 PMID:9017939 PMID:10762172 PMID:10842715 PMID:11385707 PMID:11752419 PMID:11752443 PMID:12050338 PMID:12217248 PMID:12874413 PMID:12874414 PMID:14569203 PMID:14640030 PMID:15123043 PMID:15299606 PMID:15820680 PMID:16011990 PMID:16432141 PMID:16631014 PMID:16631015 PMID:17251346 PMID:17503405 PMID:18276611 PMID:18318779 PMID:18830126 PMID:19781421 PMID:20301373 PMID:20435197 PMID:21600538 PMID:22083004 PMID:22184092 PMID:22745357 PMID:22877808 PMID:22995991 PMID:23414091 PMID:23713495 PMID:23716704 PMID:24033266 PMID:24073013 PMID:24131106 PMID:24184229 PMID:24474780 PMID:24517438 PMID:24633258 PMID:24818650 PMID:24945718 PMID:25225131 PMID:25395306 PMID:25551524 PMID:25741868 PMID:25819286 PMID:25846356 PMID:26123279 PMID:26428663 PMID:26467025 PMID:26537620 PMID:27188913 PMID:27386769 PMID:27838833 PMID:28492532 PMID:30953182 PMID:31135624 PMID:31821430 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
Banti's Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO protein:increased expression:serum (human) RGD PMID:21290180 RGD:25671452 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Itgb3 integrin subunit beta 3 ISO DNA:missense mutation: :p.L33P (human) RGD PMID:18685811 RGD:10755472 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:18685811 RGD:10755472 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:18685811 RGD:10755472 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
Fanconi-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slx1b SLX1 homolog B, structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr 1:198,114,514...198,120,061
Ensembl chr 1:198,112,245...198,120,061
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr10:11,787,756...11,808,326
Ensembl chr10:11,786,121...11,807,928
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      hematopoietic system disease 1760
        pancytopenia 19
          Banti's Syndrome 4
          Fanconi-like syndrome 2
          Myelocerebellar Disorder 0
          Pancytopenia and Occlusive Vascular Disease 0
          Sackey Sakati Aur Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      Hemic and Lymphatic Diseases 2177
        hematopoietic system disease 1760
          anemia 412
            pancytopenia 19
              Banti's Syndrome 4
              Fanconi-like syndrome 2
              Myelocerebellar Disorder 0
              Pancytopenia and Occlusive Vascular Disease 0
              Sackey Sakati Aur Syndrome 0
paths to the root