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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 subfamily 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 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709 		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 chr10:49,655,583...49,822,876
Ensembl chr10:49,655,584...49,824,297 		JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chr16:18,250,593...18,254,967
Ensembl chr16:18,217,407...18,220,979 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO DNA:SNP:3' utr:rs1719153 (human) RGD PMID:16773571 RGD:5683896 NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,452,052...68,468,231 		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 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd209d CD209d molecule disease_progression ISO associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) RGD PMID:17530998 RGD:39939010 NCBI chr12:6,689,002...6,695,452
Ensembl chr12:1,891,113...1,901,171 		JBrowse link
G Cd4 Cd4 molecule ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:157,668,878...157,695,191 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:9499800 RGD:11344976 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd68 Cd68 molecule ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,381,815...54,383,697 		JBrowse link
G Cd8a CD8 subunit alpha ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:103,365,804...103,370,040 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:polymorphism:exon:p.K751Q(human) RGD PMID:20127180 RGD:5688740 NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102 		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 chr16:74,133,259...74,145,328
Ensembl chr16:67,430,578...67,442,730 		JBrowse link
G Ifna1 interferon, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9612607 NCBI chr 5:108,143,240...108,143,809
Ensembl chr 5:103,097,356...103,097,925 		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 chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 severity ISO DNA:missense mutation:cds: p.I47V (rs643347) (human) RGD PMID:29461980 RGD:38676267 NCBI chr 1:78,756,035...78,796,961
Ensembl chr 1:69,715,535...69,754,050 		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 1:78,657,409...78,665,255
Ensembl chr 1:69,616,601...69,660,558 		JBrowse link
G Ncr3 natural cytotoxicity triggering receptor 3 ISO protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799 		JBrowse link
G RT1-CE15 RT1 class I, locus CE15 susceptibility ISO DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr20:3,269,135...3,283,819
Ensembl chr20:3,264,172...3,279,563
Ensembl chr20:3,264,172...3,279,563 		JBrowse link
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr20:3,261,656...3,265,548
Ensembl chr20:3,257,123...3,279,563 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8548330 RGD:12904035 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:8548330 RGD:12904035 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:8548330 RGD:12904035 NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
AIDS Dementia Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr18:57,912,760...57,914,802
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Gc GC, vitamin D binding protein ISO associated with HIV Infections;protein:increased expression:cerebrospinal fluid: RGD PMID:17929958 RGD:5509882 NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Insr insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Irs1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr 9:91,001,137...91,053,959
Ensembl chr 9:83,548,944...83,606,122 		JBrowse link
G Nefl neurofilament light chain 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 chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Npy neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 1:45,565,371...45,818,722
Ensembl chr 1:43,160,057...43,413,409 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:21368226 RGD:6482787 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chr10:62,322,688...62,357,060
Ensembl chr10:61,826,123...61,858,384 		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 ISO RGD PMID:2 RGD:1303381 NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:2 RGD:1303381 NCBI chr  X:116,914,320...116,918,504
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Hp haptoglobin ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23678040 PMID:23678040 RGD:7245474, RGD:7245474 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Notch4 notch receptor 4 IEP protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:19188342 PMID:17229913 RGD:38596324, RGD:38599164 NCBI chr 1:94,848,261...94,876,522
Ensembl chr 1:85,720,812...85,749,078 		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 K1 treatment ISO RGD PMID:23018378 RGD:39018554 NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:163,081,927...163,092,459 		JBrowse link
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		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 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:9546790 NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:157,668,878...157,695,191 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 5:162,406,387...162,451,620
Ensembl chr 5:157,123,185...157,168,421 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease by infectious agent 2255
      viral infectious disease 1720
        Slow Virus Diseases 51
          acquired immunodeficiency syndrome 47
            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 19134
    disease of anatomical entity 18447
      Urogenital Diseases 5400
        Female Urogenital Diseases and Pregnancy Complications 2675
          Female Urogenital Diseases 2192
            female reproductive system disease 2189
              Sexually Transmitted Diseases 236
                Viral Sexually Transmitted Diseases 227
                  human immunodeficiency virus infectious disease 204
                    acquired immunodeficiency syndrome 47
                      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