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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:acne
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Accession:DOID:6543 term browser browse the term
Definition:A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring. (DO)
Synonyms:exact_synonym: acne varioliformis;   acne vulgaris;   frontalis acne
 primary_id: MESH:D000152
 xref: EFO:0003894;   ICD10CM:L70;   ICD10CM:L70.2;   ICD9CM:706.0
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
acne term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase severity ISO protein:decreased activity:blood:
protein:increased activity:leukocyte:
RGD PMID:16489259 PMID:11349462 PMID:23174057 RGD:9479167, RGD:9479168, RGD:9479743 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Igf1 insulin-like growth factor 1 no_association ISO protein:increased expression:serum: RGD PMID:7608381 PMID:21054577 PMID:9347796 RGD:8549457, RGD:8549489, RGD:8549499 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:pilosebaceous unit, dermis (human) RGD PMID:23924903 RGD:8698671 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il4r interleukin 4 receptor ISO DNA:polymorphism: :p.Q551R (human) RGD PMID:22705603 RGD:7829779 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility
severity
ISO DNA:polymorphism:cds:p.R753Q(human)
mRNA,protein:increased expression:skin:
RGD PMID:20861605 PMID:18241264 PMID:20726329 RGD:8553023, RGD:8553025, RGD:8553024 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 no_association ISO DNA:polymorphisms:exons:p.D299G,T399I(human) RGD PMID:17033191 RGD:7794754 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:c.-308 G>A (human) RGD PMID:18615253 RGD:7394817 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO DNA:SNP: :p,M196R (676T>G) (human) RGD PMID:20556591 RGD:8661742 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B susceptibility ISO DNA:polymorphism:cds:p.M196R(human) RGD PMID:20861605 RGD:8553023 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
Acne Conglobata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphisms:exons:p.D299G,T399I(human) RGD PMID:22085193 RGD:7777157 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
PAPA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Familial recurrent arthritis | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 PMID:16199547 More... NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
JBrowse link
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ffar4 free fatty acid receptor 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome ClinVar PMID:9888420 PMID:10232633 PMID:16157297 PMID:25741868 PMID:25910211 More... NCBI chr 1:235,873,576...235,891,597
Ensembl chr 1:235,873,576...235,891,597
JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9888420 PMID:10232633 PMID:16157297 PMID:23189188 PMID:25741868 More... NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21147
    sensory system disease 6894
      skin disease 3916
        Acneiform Eruptions 50
          acne 16
            Acne Conglobata 1
            Adult Acne 0
            PAPA syndrome 2
            Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 2
Path 2
Term Annotations click to browse term
  disease 21147
    disease of anatomical entity 18195
      nervous system disease 14024
        Neurologic Manifestations 9997
          sensory system disease 6894
            skin disease 3916
              sebaceous gland disease 23
                acne 16
                  Acne Conglobata 1
                  Adult Acne 0
                  PAPA syndrome 2
                  Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 2
paths to the root