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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 subfamily B member 1 treatment IAGP DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human)
DNA:SNP: : rs10276036(human)		 RGD PMID:23372834 PMID:24517233 RGD:39456119, RGD:11098698 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G ARHGAP44 Rho GTPase activating protein 44 disease_progression IAGP DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human)
DNA:SNP:intron: (rs2072255) (human)		 RGD PMID:28069446 PMID:21107268 RGD:401901288, RGD:401901289 NCBI chr17:12,789,498...12,991,643
Ensembl chr17:12,789,498...12,991,643 		JBrowse link
G BST2 bone marrow stromal cell antigen 2 IAGP DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chr19:17,402,939...17,405,630
Ensembl chr19:17,402,939...17,405,630 		JBrowse link
G CCL4 C-C motif chemokine ligand 4 IAGP DNA:SNP:3' utr:rs1719153 (human) RGD PMID:16773571 RGD:5683896 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 IAGP ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to ClinVar PMID:9742978 PMID:12610055 PMID:12815099 PMID:25741868 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CCR5AS CCR5 antisense RNA IAGP ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to ClinVar PMID:9742978 PMID:12610055 PMID:12815099 PMID:25741868 NCBI chr 3:46,363,984...46,407,066
Ensembl chr 3:46,364,391...46,407,117 		JBrowse link
G CD209 CD209 molecule disease_progression IAGP associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) RGD PMID:17530998 RGD:39939010 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564 		JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:9499800 RGD:11344976 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility IAGP DNA:polymorphism:exon:p.K751Q(human) RGD PMID:20127180 RGD:5688740 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G HLA-A major histocompatibility complex, class I, A susceptibility IAGP DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572 		JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 IEP associated with pulmonary tuberculosis;protein:increased expression:blood (human) RGD PMID:32369456 RGD:39939073 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790 		JBrowse link
G IFNA1 interferon alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9612607 NCBI chr 9:21,440,439...21,441,316
Ensembl chr 9:21,440,439...21,441,316 		JBrowse link
G IFNG interferon gamma IAGP
EXP		 ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9612607 PMID:12854077 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IFNL4 interferon lambda 4 (gene/pseudogene) susceptibility IAGP DNA: (ss469415590) (human) RGD PMID:25658540 RGD:40886300 NCBI chr19:39,246,314...39,248,856
Ensembl chr19:39,246,314...39,248,856 		JBrowse link
G IGF2 insulin like growth factor 2 IEP protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IL2 interleukin 2 EXP CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G KIR2DL1 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 severity IAGP DNA:missense mutation:cds: p.I47V (rs643347) (human) RGD PMID:29461980 RGD:38676267 NCBI chr19:54,769,793...54,784,322
Ensembl chr19:54,769,793...54,784,322 		JBrowse link
G KIR3DS1 killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 disease_progression IGI DNA:CNV: (human) RGD PMID:12134147 RGD:150340564
G NCR1 natural cytotoxicity triggering receptor 1 IEP protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140 		JBrowse link
G NCR3 natural cytotoxicity triggering receptor 3 IEP protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr 6:31,588,895...31,593,006
Ensembl chr 6:31,588,895...31,593,006 		JBrowse link
G TNF tumor necrosis factor IEP RGD PMID:8548330 RGD:12904035 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IEP RGD PMID:8548330 RGD:12904035 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IEP RGD PMID:8548330 RGD:12904035 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
G VDR vitamin D receptor IEA GAD PMID:15118671 RGD:1331525 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623 		JBrowse link
G EPO erythropoietin treatment IDA RGD PMID:20818790 RGD:10395393 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G GC GC vitamin D binding protein IEP associated with HIV Infections;protein:increased expression:cerebrospinal fluid: RGD PMID:17929958 RGD:5509882 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041 		JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G INSR insulin receptor severity IEP protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G IRS1 insulin receptor substrate 1 severity IDA protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820 		JBrowse link
G NEFL neurofilament light chain IEP 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 chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NPY neuropeptide Y severity IEP protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862 		JBrowse link
G OPRM1 opioid receptor mu 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 6:154,010,496...154,246,867
Ensembl chr 6:154,010,496...154,246,867 		JBrowse link
G PDGFB platelet derived growth factor subunit B IEP RGD PMID:21368226 RGD:6482787 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002 		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 chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008 		JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:2 RGD:1303381 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974 		JBrowse link
G EGF epidermal growth factor IEP RGD PMID:19357719 RGD:6906909 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766 		JBrowse link
G HP haptoglobin IEP protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO
IMP		 RGD PMID:23678040 PMID:23678040 RGD:7245474, RGD:7245474 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MYH9 myosin heavy chain 9 IEP protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G NOTCH4 notch receptor 4 IEP protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:19188342 PMID:17229913 RGD:38596324, RGD:38599164 NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287 		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 IEP RGD PMID:23018378 RGD:39018554 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G IL32 interleukin 32 IEP mRNA:increased expression:zone of skin, blood serum (human) RGD PMID:29037857 RGD:150340744 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9546790 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease by infectious agent 2738
      viral infectious disease 2059
        Slow Virus Diseases 55
          acquired immunodeficiency syndrome 48
            AIDS Arteritis, Central Nervous System 0
            AIDS Dementia Complex 11
            AIDS-Associated Nephropathy 8
            AIDS-Related Complex 1
            AIDS-Related Opportunistic Infections + 4
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Urogenital Diseases 6454
        Female Urogenital Diseases and Pregnancy Complications 2996
          Female Urogenital Diseases 2464
            female reproductive system disease 2461
              Sexually Transmitted Diseases 248
                Viral Sexually Transmitted Diseases 241
                  human immunodeficiency virus infectious disease 217
                    acquired immunodeficiency syndrome 48
                      AIDS Arteritis, Central Nervous System 0
                      AIDS Dementia Complex 11
                      AIDS-Associated Nephropathy 8
                      AIDS-Related Complex 1
                      AIDS-Related Opportunistic Infections + 4
paths to the root