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
Accession: DOID:9004729
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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