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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:lymphopenia
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Accession:DOID:614 term browser browse the term
Definition:Reduction in the number of lymphocytes.
Synonyms:exact_synonym: Lymphocytopenia;   Lymphocytopenias;   Lymphopenias
 primary_id: MESH:D008231
 alt_id: RDO:0002473
 xref: ICD10CM:D72.810;   ICD9CM:288.51
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
lymphopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO RGD PMID:9478961 RGD:1300251 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
JBrowse link
G Atg5 autophagy related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26568842 NCBI chr20:49,301,783...49,393,147
Ensembl chr20:49,318,308...49,393,140
JBrowse link
G Atg7 autophagy related 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26568842 NCBI chr 4:146,570,113...146,777,093
Ensembl chr 4:146,598,413...146,777,124
JBrowse link
G Cbl Cbl proto-oncogene onset ISO RGD PMID:20404156 RGD:11038797 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Ccl28 C-C motif chemokine ligand 28 IEP protein:decreased expression:small intestine villus (rat) RGD PMID:19393265 RGD:4892224 NCBI chr 2:52,379,341...52,403,979
Ensembl chr 2:52,379,341...52,404,246
JBrowse link
G Cd28 Cd28 molecule IMP RGD PMID:12750179 RGD:2307205 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO RGD PMID:12522253 RGD:11251731 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Ednrb endothelin receptor type B IAGP RGD PMID:22975636 RGD:7207471 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:22975636 RGD:7207471
G Fcgr2a Fc fragment of IgG receptor IIa susceptibility ISO associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.R131H (human) RGD PMID:17596285 RGD:5508454 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa susceptibility ISO associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) RGD PMID:17596285 RGD:5508454 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Gimap5 GTPase, IMAP family member 5 IAGP DNA:frameshift deletion RGD PMID:12097339 RGD:619544 NCBI chr 4:78,377,228...78,386,683
Ensembl chr 4:78,378,144...78,385,577
JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO IL2RA/CD25 Deficiency, OMIM:606367 RGD PMID:9096364 RGD:1600117 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17151827 NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Lymphocytopenia ClinVar PMID:25741868, PMID:28492532 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Lbr lamin B receptor ISO DNA:point mutation RGD PMID:22105998 RGD:11062006 NCBI chr13:100,431,390...100,450,209 JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Lymphocytopenia ClinVar PMID:7581410, PMID:10521296, PMID:11186938, PMID:11447480, PMID:15358028, PMID:16858239, PMID:17125710, PMID:18029407, PMID:19880069, PMID:20031618, PMID:22857948, PMID:23233322, PMID:23283745, PMID:24033266, PMID:24093860, PMID:24111713, PMID:24793961, PMID:25031304, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26743238, PMID:26969327, PMID:27247418, PMID:27532257, PMID:27737317, PMID:27831900, PMID:28138913, PMID:28420666, PMID:28492532, PMID:28615295, PMID:28790153 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Mysm1 myb-like, SWIRM and MPN domains 1 ISO RGD PMID:22184403 RGD:9589161 NCBI chr 5:113,902,115...113,939,083
Ensembl chr 5:113,906,803...113,939,127
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Lymphocytopenia ClinVar PMID:25741868, PMID:28089114, PMID:28492532 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 1:167,213,866...167,308,851
Ensembl chr 1:167,213,866...167,308,851
JBrowse link
G Tnf tumor necrosis factor ISO associated with HIV Infections;protein:increased expression:serum RGD PMID:2324681 RGD:10450888 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 IEP mRNA, protein:increased expression:thymus RGD PMID:10433093 RGD:2306005 NCBI chr 9:9,617,551...9,675,167
Ensembl chr 9:9,617,786...9,675,110
JBrowse link
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609889
OMIM
ClinVar
PMID:9630231, PMID:11121059, PMID:11133745, PMID:11313270, PMID:16276422, PMID:17890453, PMID:18592361, PMID:19246248, PMID:24144642, PMID:24290284, PMID:25741868, PMID:25976673, PMID:28492532, PMID:28769923, PMID:30307608 NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
JBrowse link
idiopathic CD4-positive T-lymphocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc119 unc-119 lipid binding chaperone ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:65,606,919...65,612,324
Ensembl chr10:65,606,898...65,612,324
JBrowse link
T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxn1 forkhead box N1 ISO ClinVar Annotator: match by term: T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT ClinVar
OMIM
PMID:1447097, PMID:8911612, PMID:10206641, PMID:15180707, PMID:15897400, PMID:18339010, PMID:20864124, PMID:20978268, PMID:21507891, PMID:28492532, PMID:28636882 NCBI chr10:65,621,142...65,634,666
Ensembl chr10:65,621,257...65,634,666
JBrowse link
T-Lymphocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17030597 NCBI chr10:88,686,207...88,712,313
Ensembl chr10:88,686,207...88,754,829
JBrowse link
Wiskott-Aldrich syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp3 forkhead box P3 ISS OMIM:301000 | OMIM:614493 MouseDO NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1
ClinVar Annotator: match by term: Aldrich syndrome
OMIM
ClinVar
CTD
PMID:2906042, PMID:7579347, PMID:7735919, PMID:7753869, PMID:8069912, PMID:8528198, PMID:8528199, PMID:8595430, PMID:8666397, PMID:8673127, PMID:8682510, PMID:8757563, PMID:9126958, PMID:9326235, PMID:9657775, PMID:10202051, PMID:10447259, PMID:10653325, PMID:10691337, PMID:10737997, PMID:11167787, PMID:11298372, PMID:11442475, PMID:11598004, PMID:11793485, PMID:12073025, PMID:12199801, PMID:12351383, PMID:12437929, PMID:12727931, PMID:12969986, PMID:14504083, PMID:14566484, PMID:14612666, PMID:15284122, PMID:15497008, PMID:16091449, PMID:16511828, PMID:16638962, PMID:17065640, PMID:17213309, PMID:17250667, PMID:17390083, PMID:17400488, PMID:17703096, PMID:18162713, PMID:19308710, PMID:19817875, PMID:20173115, PMID:20959042, PMID:21185603, PMID:21771083, PMID:22523910, PMID:23033889, PMID:23160469, PMID:24210885, PMID:24728327, PMID:25741868, PMID:25931402, PMID:26261240, PMID:27264129, PMID:27993330, PMID:28492532, PMID:28641574, PMID:28931895, PMID:30981783, PMID:31064749, PMID:8069912 RGD:1599803 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:60,150,001...60,207,125
Ensembl chr 3:60,150,021...60,166,013
JBrowse link
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wipf1 WAS/WASL interacting protein family, member 1 ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22231303, PMID:24033266, PMID:27742395, PMID:28492532 NCBI chr 3:60,150,001...60,207,125
Ensembl chr 3:60,150,021...60,166,013
JBrowse link
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia ClinVar PMID:28492532 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia ClinVar PMID:28492532 NCBI chr  X:77,065,427...77,071,676
Ensembl chr  X:77,065,397...77,071,676
JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
ClinVar Annotator: match by OMIM:300853
OMIM
ClinVar
PMID:21796205, PMID:24550228, PMID:25135935, PMID:25504528, PMID:25741868, PMID:25956530, PMID:28492532, PMID:31036665 NCBI chr  X:77,023,423...77,061,603
Ensembl chr  X:77,020,402...77,061,667
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      primary immunodeficiency disease 2344
        lymphopenia 55
          T-Lymphocytopenia + 4
          Wiskott-Aldrich syndrome + 3
          X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 3
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Hemic and Lymphatic Diseases 2045
        hematopoietic system disease 1641
          leukocyte disease 496
            leukopenia 124
              lymphopenia 55
                T-Lymphocytopenia + 4
                Wiskott-Aldrich syndrome + 3
                X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.