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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:acquired immunodeficiency syndrome
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Accession:DOID:635 term browser browse the term
Definition:A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. (DO)
Synonyms:exact_synonym: AIDS;   Acquired Immune Deficiency Syndrome;   Acquired Immuno Deficiency Syndrome;   Acquired Immunodeficiency Syndromes;   acquired immune deficiency;   acquired immuno-deficiency syndromes;   acquired immunologic deficiency syndrome
 narrow_synonym: AIDS-related disease;   acquired immunodeficiency syndrome, delayed progression to;   acquired immunodeficiency syndrome, rapid progression to;   acquired immunodeficiency syndrome, slow progression to
 primary_id: MESH:D000163
 xref: EFO:0000765;   EFO:0009528;   NCI:C2851
For additional species annotation, visit the Alliance of Genome Resources.


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acquired immunodeficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A treatment ISO DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human)
DNA:SNP: : rs10276036(human)		 RGD PMID:23372834 PMID:24517233 RGD:39456119, RGD:11098698 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Arhgap44 Rho GTPase activating protein 44 disease_progression ISO DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human)
DNA:SNP:intron: (rs2072255) (human)		 RGD PMID:28069446 PMID:21107268 RGD:401901288, RGD:401901289 NCBI chr11:64,892,865...65,053,779
Ensembl chr11:64,892,865...65,053,787 		JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chr 8:71,986,899...71,990,116
Ensembl chr 8:71,986,899...71,990,100 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO DNA:SNP:3' utr:rs1719153 (human) RGD PMID:16773571 RGD:5683896 NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to ClinVar PMID:9742978 PMID:12610055 PMID:12815099 PMID:25741868 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Cd209d CD209d antigen disease_progression ISO associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) RGD PMID:17530998 RGD:39939010 NCBI chr 8:3,921,824...3,928,548
Ensembl chr 8:3,921,824...3,928,555 		JBrowse link
G Cd40lg CD40 ligand treatment IMP RGD PMID:9499800 RGD:11344976 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 susceptibility ISO DNA:polymorphism:exon:p.K751Q(human) RGD PMID:20127180 RGD:5688740 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 susceptibility ISO DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075 		JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO associated with pulmonary tuberculosis;protein:increased expression:blood (human) RGD PMID:32369456 RGD:39939073 NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025 		JBrowse link
G Ifna1 interferon alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9612607 NCBI chr 4:88,768,324...88,768,893
Ensembl chr 4:88,768,324...88,768,893 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to		 CTD
ClinVar		 PMID:9612607 PMID:12854077 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Kir3dl1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 severity ISO DNA:missense mutation:cds: p.I47V (rs643347) (human) RGD PMID:29461980 RGD:38676267 NCBI chr  X:135,418,748...135,435,055
Ensembl chr  X:135,418,748...135,435,058 		JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr 7:4,340,714...4,348,183
Ensembl chr 7:4,340,723...4,348,163 		JBrowse link
G Ncr3-ps natural cytotoxicity triggering receptor 3, pseudogene ISO protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr17:35,399,512...35,403,785
Ensembl chr17:35,399,511...35,403,638 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8548330 RGD:12904035 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO RGD PMID:8548330 RGD:12904035 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO RGD PMID:8548330 RGD:12904035 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
AIDS Dementia Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenergic receptor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G Gc vitamin D binding protein ISO associated with HIV Infections;protein:increased expression:cerebrospinal fluid: RGD PMID:17929958 RGD:5509882 NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Insr insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617 		JBrowse link
G Irs1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137 		JBrowse link
G Nefl neurofilament, light polypeptide ISO associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human)
protein:increased expression:CSF (human)		 RGD PMID:30105502 PMID:27400930 RGD:127284876, RGD:127284885 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		JBrowse link
G Npy neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr10:6,708,593...6,988,209
Ensembl chr10:6,708,506...6,988,198 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO RGD PMID:21368226 RGD:6482787 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 IMP RGD PMID:25404050 RGD:38676266 NCBI chr11:76,889,423...76,923,169
Ensembl chr11:76,889,429...76,923,166 		JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a IMP RGD PMID:2 RGD:1303381 NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 IDA RGD PMID:2 RGD:1303381 NCBI chr  X:21,350,863...21,355,072
Ensembl chr  X:21,350,783...21,355,403 		JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965 		JBrowse link
G Hp haptoglobin ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP
ISO		 RGD PMID:23678040 PMID:23678040 RGD:7245474, RGD:7245474 NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
G Notch4 notch 4 ISO protein: increased expression: kidney RGD PMID:20706108 PMID:20706108 RGD:6480788, RGD:6480788 NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477 		JBrowse link
G Nphs1 nephrosis 1, nephrin treatment IEP RGD PMID:19188342 PMID:17229913 RGD:38596324, RGD:38599164 NCBI chr 7:30,157,259...30,188,048
Ensembl chr 7:30,157,740...30,186,648 		JBrowse link
AIDS-Related Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klrk1 killer cell lectin-like receptor subfamily K, member 1 treatment ISO RGD PMID:23018378 RGD:39018554 NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827 		JBrowse link
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 B cell leukemia/lymphoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
AIDS-Related Opportunistic Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd4 CD4 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:9546790 NCBI chr 6:124,841,656...124,865,210
Ensembl chr 6:124,841,655...124,865,184 		JBrowse link
G Tnfrsf8 tumor necrosis factor receptor superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 4:144,993,702...145,041,734
Ensembl chr 4:144,993,707...145,041,734 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease by infectious agent 2198
      viral infectious disease 1688
        Slow Virus Diseases 47
          acquired immunodeficiency syndrome 44
            AIDS Arteritis, Central Nervous System 0
            AIDS Dementia Complex 11
            AIDS-Associated Nephropathy 8
            AIDS-Related Complex 1
            AIDS-Related Opportunistic Infections + 3
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      Urogenital Diseases 4892
        Female Urogenital Diseases and Pregnancy Complications 2429
          Female Urogenital Diseases 1965
            female reproductive system disease 1962
              Sexually Transmitted Diseases 236
                Viral Sexually Transmitted Diseases 228
                  human immunodeficiency virus infectious disease 204
                    acquired immunodeficiency syndrome 44
                      AIDS Arteritis, Central Nervous System 0
                      AIDS Dementia Complex 11
                      AIDS-Associated Nephropathy 8
                      AIDS-Related Complex 1
                      AIDS-Related Opportunistic Infections + 3
paths to the root