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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:Acneiform Eruptions
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Accession:DOID:9001519 term browser browse the term
Definition:Visible efflorescent lesions of the skin caused by acne or resembling acne. (Dorland, 28th ed, p18, 575)
Synonyms:exact_synonym: Acneiform Eruption
 primary_id: MESH:D017486;   RDO:0004710
For additional species annotation, visit the Alliance of Genome Resources.



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Acneiform Eruptions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO DNA:missense mutation:cds:p.S252W (human) RGD PMID:18410418 RGD:12801492 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
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:23174057 PMID:11349462 RGD:9479167, RGD:9479743, RGD:9479168 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:9347796 PMID:21054577 RGD:8549457, RGD:8549499, RGD:8549489 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 immuity 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 chr19:18,379,720...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
Chloracne term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahnak AHNAK nucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 1:205,882,223...205,970,934
Ensembl chr 1:205,882,273...205,970,926
JBrowse link
G Ankrd55 ankyrin repeat domain 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 2:43,883,877...43,983,820
Ensembl chr 2:43,883,857...43,983,680
JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr13:45,531,881...45,535,642
Ensembl chr13:45,531,925...45,535,628
JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Crem cAMP responsive element modulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21237254 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Eppk1 epiplakin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 7:107,816,919...107,842,946 JBrowse link
G Frmd3 FERM domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 5:87,764,604...88,032,261
Ensembl chr 5:87,764,604...88,031,091
JBrowse link
G Gadd45a growth arrest and DNA-damage-inducible, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 4:96,154,789...96,157,091
Ensembl chr 4:96,154,789...96,157,115
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203
G Gstm5 glutathione S-transferase, mu 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 2:195,531,627...195,534,562
Ensembl chr 2:195,531,495...195,534,553
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr10:15,323,830...15,324,677 JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr10:15,311,637...15,312,481 JBrowse link
G Hbb hemoglobin subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 1:158,250,421...158,251,832 JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 1:158,224,175...158,231,675 JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 1:158,271,993...158,273,371
Ensembl chr 1:158,271,873...158,273,425
JBrowse link
G Ints13 integrator complex subunit 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 4:179,459,740...179,491,541
Ensembl chr 4:179,459,740...179,491,541
JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21237254 NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
JBrowse link
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 4:86,161,642...86,204,671
Ensembl chr 4:86,161,643...86,204,628
JBrowse link
G Osm oncostatin M ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr14:79,103,638...79,108,500
Ensembl chr14:79,104,344...79,108,313
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
JBrowse link
G Rab11a RAB11a, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525
JBrowse link
G Rpa1 replication protein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr10:60,148,869...60,199,999
Ensembl chr10:60,148,793...60,199,949
JBrowse link
G Rsu1 Ras suppressor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr17:76,128,774...76,377,515
Ensembl chr17:76,188,812...76,377,454
JBrowse link
G Serpinb9 serpin family B member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr17:31,420,118...31,443,237
Ensembl chr17:31,420,125...31,443,230
JBrowse link
G Tgm1 transglutaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21237254 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Tob1 transducer of ErbB-2.1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr10:79,163,093...79,165,131
Ensembl chr10:79,160,154...79,165,215
JBrowse link
G Zfp683 zinc finger protein 683 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 5:146,277,972...146,285,856 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne
ClinVar Annotator: match by OMIM:604416
OMIM
ClinVar
CTD
PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 PMID:16527883 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 Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by OMIM:615147
ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
OMIM
ClinVar
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 17240
    sensory system disease 5615
      skin disease 2956
        Acneiform Eruptions 50
          Acne Keloid 0
          Chloracne 34
          acne + 15
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        sensory system disease 5615
          skin disease 2956
            Acneiform Eruptions 50
              Acne Keloid 0
              Chloracne 34
              acne + 15
paths to the root