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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 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 treatment ISO DNA:SNP: : rs10276036(human)
DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human)		 RGD PMID:23372834 PMID:24517233 RGD:11098698 RGD:39456119 NCBI chr 9:93,049,955...93,146,469 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:21107268 PMID:28069446 RGD:401901288 RGD:401901289 NCBI chr12:57,049,900...57,206,706
Ensembl chr12:57,049,895...57,206,889 		JBrowse link
G BST2 bone marrow stromal cell antigen 2 ISO DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chr 2:60,305,306...60,308,295
Ensembl chr 2:60,305,283...60,309,697 		JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO DNA:SNP:3' utr:rs1719153 (human) RGD PMID:16773571 RGD:5683896 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082 		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 chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895 		JBrowse link
G CD209 CD209 molecule disease_progression ISO associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) RGD PMID:17530998 RGD:39939010 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968 		JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:9499800 RGD:11344976 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		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 chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473 		JBrowse link
G IFNA1 interferon, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9612607 NCBI chr 1:201,515,835...201,516,477
Ensembl chr 1:201,515,809...201,516,488 		JBrowse link
G IFNG interferon gamma ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to ClinVar PMID:12854077 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IGF2 insulin like growth factor 2 ISO protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 severity ISO DNA:missense mutation:cds: p.I47V (rs643347) (human) RGD PMID:29461980 RGD:38676267 NCBI chr 6:59,056,497...59,068,225 JBrowse link
G LOC102161030 interferon lambda-4 susceptibility ISO DNA: (ss469415590) (human) RGD PMID:25658540 RGD:40886300 NCBI chr 6:47,946,679...47,948,710 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 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990 		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 chr 7:23,713,333...23,716,988 JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:8548330 RGD:12904035 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:8548330 RGD:12904035 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:8548330 RGD:12904035 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147 		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 chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731 		JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936 		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 chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262 		JBrowse link
G INSR insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,104 		JBrowse link
G IRS1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,307,284 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641
G NEFL neurofilament light chain ISO associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human)
protein:increased expression:CSF (human)		 RGD PMID:27400930 PMID:30105502 RGD:127284876 RGD:127284885 NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112 		JBrowse link
G NPY neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,992,667 		JBrowse link
G OPRM1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 1:12,634,125...12,702,295
Ensembl chr 1:12,528,672...12,702,443 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:21368226 RGD:6482787 Ensembl chr 5:8,986,462...9,007,435 JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378 		JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:2 RGD:1303381 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105 		JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:2 RGD:1303381 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388 		JBrowse link
G EGF epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046 		JBrowse link
G HP haptoglobin ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23678040 RGD:7245474 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888 		JBrowse link
G MYH9 myosin heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472 		JBrowse link
G NOTCH4 notch receptor 4 ISO protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281 		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 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192 		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 chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		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 5:63,892,129...63,918,547
Ensembl chr 5:63,892,137...63,918,519 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 6:72,103,309...72,174,882 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease by infectious agent 2090
      viral infectious disease 1605
        Slow Virus Diseases 46
          acquired immunodeficiency syndrome 42
            AIDS Arteritis, Central Nervous System 0
            AIDS Dementia Complex 11
            AIDS-Associated Nephropathy 7
            AIDS-Related Complex 1
            AIDS-Related Opportunistic Infections + 3
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      Urogenital Diseases 4676
        Female Urogenital Diseases and Pregnancy Complications 2328
          Female Urogenital Diseases 1901
            female reproductive system disease 1898
              Sexually Transmitted Diseases 225
                Viral Sexually Transmitted Diseases 218
                  human immunodeficiency virus infectious disease 196
                    acquired immunodeficiency syndrome 42
                      AIDS Arteritis, Central Nervous System 0
                      AIDS Dementia Complex 11
                      AIDS-Associated Nephropathy 7
                      AIDS-Related Complex 1
                      AIDS-Related Opportunistic Infections + 3
paths to the root