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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:Nontuberculous Mycobacterium Infections
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Accession:DOID:9004729 term browser browse the term
Definition:Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see MYCOBACTERIUM AVIUM COMPLEX;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae.
Synonyms:exact_synonym: Atypical Mycobacterial Infection, Disseminated;   Atypical Mycobacterial Infection, Familial Disseminated;   Atypical Mycobacteriosis, Familial Disseminated;   Atypical Mycobacterium Infection;   Atypical Mycobacterium Infections;   Familial Atypical Mycobacterioses;   Familial Atypical Mycobacteriosis;   MSMD BCG Infection, Generalized Familial;   Nontuberculous Mycobacterium Infection
 narrow_synonym: FAMILIAL ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL DOMINANT;   FAMILIAL ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;   Mycobacterial Disease, Mendelian Susceptibility To
 primary_id: MESH:D009165
For additional species annotation, visit the Alliance of Genome Resources.

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Nontuberculous Mycobacterium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,799,753...15,828,838
Ensembl chr 1:15,782,477...15,860,624 		JBrowse link
G Cftr CF transmembrane conductance regulator susceptibility ISO DNA:mutations: :
DNA:SNP:cds:rs113857788(p.Q1352H)(human)		 RGD PMID:19858235, PMID:23514810, PMID:18703788 RGD:4140395, RGD:36049751, RGD:4140430 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676 		JBrowse link
G Ifngr1 interferon gamma receptor 1 susceptibility ISO DNA:nonsense mutation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar Annotator: match by term: Atypical mycobacterial infection, familial disseminated
ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive
ClinVar Annotator: match by OMIM:209950		 CTD
ClinVar		 PMID:8960473 PMID:8960475 PMID:9142806 PMID:9389728 PMID:9497247 PMID:9806040 PMID:10192386 PMID:10811850 PMID:11583830 PMID:12516030 PMID:12712974 PMID:12743658 PMID:15589309 PMID:17251453 PMID:18171304 PMID:18593809 PMID:19880337 PMID:19880857 PMID:20015550 PMID:21448974 PMID:24033266 PMID:25592983 PMID:25741868 PMID:26060819 PMID:26343451 PMID:27356097 PMID:28492532 PMID:28902581, PMID:8960473 RGD:1624283 NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr11:31,694,339...31,712,611
Ensembl chr11:31,694,339...31,712,611 		JBrowse link
G Il12b interleukin 12B susceptibility ISO disseminated BCG and Salmonella enteritidis infection, OMIM:209950
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive		 ClinVar PMID:9854038 RGD:1600042 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085 		JBrowse link
G Il12rb1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection		 ClinVar PMID:19460324 PMID:24033266 PMID:28492532 NCBI chr16:20,370,722...20,383,576
Ensembl chr16:20,371,338...20,383,337 		JBrowse link
G Il18 interleukin 18 ISO RGD PMID:21045270 RGD:4889546 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO RGD PMID:16797208 RGD:5037237 NCBI chr 9:46,962,291...47,038,139
Ensembl chr 9:46,962,288...47,036,670 		JBrowse link
G Il20ra interleukin 20 receptor subunit alpha ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,180,328...15,222,785
Ensembl chr 1:15,180,328...15,222,785 		JBrowse link
G Il22ra2 interleukin 22 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,084,136...15,107,423
Ensembl chr 1:15,093,599...15,106,954 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746 		JBrowse link
G Map7 microtubule-associated protein 7 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,620,665...15,748,203
Ensembl chr 1:15,620,653...15,748,203 		JBrowse link
G Mtfr2 mitochondrial fission regulator 2 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,834,779...15,850,424
Ensembl chr 1:15,782,477...15,860,624 		JBrowse link
G Pde7b phosphodiesterase 7B ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,889,845...16,203,909
Ensembl chr 1:15,893,533...16,203,909 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850 		JBrowse link
G Slc35d3 solute carrier family 35, member D3 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,298,526...15,301,998
Ensembl chr 1:15,298,526...15,301,998 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 susceptibility ISO DNA:transition: ; 2116T>C
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Dominant		 ClinVar PMID:11452125 RGD:1600087 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533 		JBrowse link
Buruli ulcer disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a1 solute carrier family 11 member 1 susceptibility ISO ClinVar Annotator: match by OMIM:610446
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16395392 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706 		JBrowse link
immunodeficiency 27A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifngr1 interferon gamma receptor 1 ISO ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:10192386 PMID:11583830 PMID:15589309 PMID:18171304 PMID:20015550 PMID:28492532 PMID:28902581 NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907 		JBrowse link
immunodeficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 33
ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated, 2
ClinVar Annotator: match by term: Immunodeficiency without anhidrotic ectodermal dysplasia
ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED
ClinVar Annotator: match by OMIM:300636		 OMIM
ClinVar		 PMID:11590134 PMID:12459250 PMID:15229184 PMID:15356572 PMID:15577852 PMID:15833888 PMID:16532398 PMID:16818673 PMID:16950813 PMID:18179816 PMID:25068423 PMID:25741868 PMID:28993958 PMID:29534156 PMID:31965418 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748 		JBrowse link
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Atypical mycobacteriosis, familial, X-linked 2
ClinVar Annotator: match by OMIM:300645		 OMIM
ClinVar		 PMID:17293536 PMID:21278736 PMID:25741868 PMID:28492532 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547 		JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by OMIM:616126
ClinVar Annotator: match by term: Immunodeficiency 38 with basal ganglia calcification		 ClinVar
OMIM		 PMID:22859821 PMID:25307056 PMID:25741868 PMID:28492532 NCBI chr 5:173,624,862...173,629,124
Ensembl chr 5:173,624,310...173,626,248 		JBrowse link
immunodeficiency 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 69 ClinVar
OMIM		 PMID:32163377 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419 		JBrowse link
Mycobacterium avium complex disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with pulmonary diseases; protein:increased expression:serum RGD PMID:19641295 RGD:5686838 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488 		JBrowse link
G Il17a interleukin 17A ISO RGD PMID:20797909 RGD:4888520 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786 		JBrowse link
G Tnf tumor necrosis factor ISO associated with HIV Infections RGD PMID:7640175 RGD:10450731 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease by infectious agent 1824
      Bacterial Infections and Mycoses 703
        bacterial infectious disease 593
          Gram-Positive Bacterial Infections 210
            Actinomycetales Infections 153
              Mycobacterium Infections 152
                Nontuberculous Mycobacterium Infections 26
                  BCG Infection, Generalized Familial 0
                  BCG Infection, Generalized Familial Semibenign, Autosomal Dominant 0
                  BCG and Salmonella Infection, Disseminated 0
                  Buruli ulcer disease 1
                  Infection with Mycobacterium Marinum 0
                  Mycobacterium avium complex disease 3
                  immunodeficiency 27A 1
                  immunodeficiency 33 2
                  immunodeficiency 34 1
                  immunodeficiency 38 1
                  immunodeficiency 69 1
paths to the root