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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:Bacterial Skin Diseases
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Accession:DOID:9003209 term browser browse the term
Definition:Skin diseases caused by bacteria.
Synonyms:exact_synonym: Bacterial Skin Disease
 primary_id: MESH:D017192
 alt_id: RDO:0004729
For additional species annotation, visit the Alliance of Genome Resources.


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eumycotic mycetoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Comt catechol-O-methyltransferase severity ISO DNA:missense mutation:cds: (rs4680) (human) RGD PMID:20184498 RGD:8662334 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:decreased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
Familial Hidradenitis Suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncstn nicastrin ISO ClinVar Annotator: match by term: Familial acne inversa 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:142690
OMIM
ClinVar
CTD
PMID:20929727, PMID:21412258, PMID:22358060, PMID:25693063, PMID:25741868 NCBI chr13:90,451,046...90,467,256
Ensembl chr13:90,451,044...90,467,256
JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Acne inversa, familial, 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:20929727 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISO ClinVar Annotator: match by OMIM:613736
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acne inversa, familial, 2
OMIM
ClinVar
CTD
PMID:20929727, PMID:21412258, PMID:27900998, PMID:28287404, PMID:28601418 NCBI chr 1:89,016,093...89,017,449
Ensembl chr 1:89,016,096...89,017,290
JBrowse link
hidradenitis suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Ncstn nicastrin ISS OMIM:142690 | OMIM:613736 | OMIM:613737 MouseDO NCBI chr13:90,451,046...90,467,256
Ensembl chr13:90,451,044...90,467,256
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Psen1 presenilin 1 ISS OMIM:142690 | OMIM:613736 | OMIM:613737 MouseDO NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISS OMIM:142690 | OMIM:613736 | OMIM:613737 MouseDO NCBI chr 1:89,016,093...89,017,449
Ensembl chr 1:89,016,096...89,017,290
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism,haplotype:promoter:-238G>A(human) RGD PMID:23106544 RGD:7777155 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
rhinoscleroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:haplotype: : RGD PMID:17321882 RGD:8547664 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:haplotype: : RGD PMID:17321882 RGD:8547664 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
Staphylococcal Skin Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17a interleukin 17A ISO RGD PMID:24614654 RGD:9068425 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:21536791 RGD:8655921 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il33 interleukin 33 treatment ISO mRNA,protein:increased expression:skin RGD PMID:23892028, PMID:23892028 RGD:40400893, RGD:40400893 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Serpinf1 serpin family F member 1 severity ISO RGD PMID:25515118 RGD:36174009 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease by infectious agent 1774
      Bacterial Infections and Mycoses 673
        bacterial infectious disease 574
          Bacterial Skin Diseases 18
            Cervicofacial Actinomycosis 0
            Cutaneous Syphilis 0
            Cutaneous Tuberculosis + 0
            Digital Dermatitis 0
            Erythema Chronicum Migrans 0
            Staphylococcal Skin Infections + 4
            bacillary angiomatosis 0
            cutaneous anthrax 0
            ecthyma 0
            erysipelas 0
            erythrasma 0
            eumycotic mycetoma 3
            granuloma inguinale + 0
            hidradenitis suppurativa + 9
            necrotizing fasciitis 0
            pinta disease + 0
            rhinoscleroma 2
            ulceroglandular tularemia 0
            yaws + 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            Infectious Skin Diseases 175
              Bacterial Skin Diseases 18
                Cervicofacial Actinomycosis 0
                Cutaneous Syphilis 0
                Cutaneous Tuberculosis + 0
                Digital Dermatitis 0
                Erythema Chronicum Migrans 0
                Staphylococcal Skin Infections + 4
                bacillary angiomatosis 0
                cutaneous anthrax 0
                ecthyma 0
                erysipelas 0
                erythrasma 0
                eumycotic mycetoma 3
                granuloma inguinale + 0
                hidradenitis suppurativa + 9
                necrotizing fasciitis 0
                pinta disease + 0
                rhinoscleroma 2
                ulceroglandular tularemia 0
                yaws + 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.