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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 ISO DNA:SNP: : rs10276036(human)
DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human)		 RGD PMID:23372834 PMID:24517233 RGD:11098698 RGD:39456119 NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274 		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 chr16:12,125,543...12,328,203
Ensembl chr16:12,125,574...12,330,501 		JBrowse link
G BST2 bone marrow stromal cell antigen 2 ISO DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chr 6:15,900,396...15,903,072
Ensembl chr 6:15,900,011...15,903,060 		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 chr22:7,803,794...7,818,112 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 6:7,219,576...7,235,755
Ensembl chr 6:7,228,378...7,235,208 		JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:9499800 RGD:11344976 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639 		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 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073 		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 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505 		JBrowse link
G IFNG interferon gamma ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to ClinVar PMID:12854077 NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		JBrowse link
G IGF2 insulin like growth factor 2 ISO protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388 		JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969 		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 6:47,521,488...47,527,713
Ensembl chr 6:47,521,956...47,530,961 		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
G TNF tumor necrosis factor ISO RGD PMID:8548330 RGD:12904035
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:8548330 RGD:12904035 NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:8548330 RGD:12904035 NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497 		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 chr23:51,445,920...51,447,942
Ensembl chr23:51,446,154...51,447,401 		JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908 		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 7:20,254,604...20,298,384
Ensembl chr 7:20,253,879...20,298,265 		JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G INSR insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592 		JBrowse link
G IRS1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr10:112,748,283...112,812,368 JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:CSF (human)
associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human)		 RGD PMID:27400930 PMID:30105502 RGD:127284876 RGD:127284885 NCBI chr 8:23,077,085...23,083,213
Ensembl chr 8:23,077,086...23,083,222 		JBrowse link
G NPY neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr21:34,068,533...34,076,205
Ensembl chr21:34,068,530...34,075,127 		JBrowse link
G OPRM1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr13:81,568,295...81,650,005
Ensembl chr13:81,568,732...81,625,088 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:21368226 RGD:6482787 NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chr16:23,929,196...23,969,665
Ensembl chr16:23,927,311...23,955,616 		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 chr15:41,957,826...42,002,776 JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:2 RGD:1303381
G EGF epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23678040 RGD:7245474 NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020 		JBrowse link
G MYH9 myosin heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671 		JBrowse link
G NOTCH4 notch receptor 4 ISO protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:17229913 PMID:19188342 RGD:38596324 RGD:38599164 NCBI chr 6:30,736,869...30,763,054
Ensembl chr 6:30,736,966...30,762,929 		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 chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895 		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 chr11:6,824,797...6,856,440
Ensembl chr11:6,825,245...6,853,852 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr20:119,656,183...119,736,151
Ensembl chr20:119,657,614...119,715,078 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15272
    disease by infectious agent 2055
      viral infectious disease 1567
        Slow Virus Diseases 40
          acquired immunodeficiency syndrome 37
            AIDS Arteritis, Central Nervous System 0
            AIDS Dementia Complex 11
            AIDS-Associated Nephropathy 7
            AIDS-Related Complex 0
            AIDS-Related Opportunistic Infections + 3
Path 2
Term Annotations click to browse term
  disease 15272
    disease of anatomical entity 14892
      Urogenital Diseases 4663
        Female Urogenital Diseases and Pregnancy Complications 2313
          Female Urogenital Diseases 1906
            female reproductive system disease 1903
              Sexually Transmitted Diseases 220
                Viral Sexually Transmitted Diseases 214
                  human immunodeficiency virus infectious disease 192
                    acquired immunodeficiency syndrome 37
                      AIDS Arteritis, Central Nervous System 0
                      AIDS Dementia Complex 11
                      AIDS-Associated Nephropathy 7
                      AIDS-Related Complex 0
                      AIDS-Related Opportunistic Infections + 3
paths to the root