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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 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:pilosebaceous unit, dermis (human) RGD PMID:23924903 RGD:8698671 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il4r interleukin 4 receptor ISO DNA:polymorphism: :p.Q551R (human) RGD PMID:22705603 RGD:7829779 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
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 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 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 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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:c.-308 G>A (human) RGD PMID:18615253 RGD:7394817 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO DNA:SNP: :p,M196R (676T>G) (human) RGD PMID:20556591 RGD:8661742 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B susceptibility ISO DNA:polymorphism:cds:p.M196R(human) RGD PMID:20861605 RGD:8553023 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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 1:225,184,883...225,429,638
Ensembl chr 1:225,184,939...225,215,015
JBrowse link
G Ankrd55 ankyrin repeat domain 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 2:43,819,234...44,196,602
Ensembl chr 2:44,096,061...44,196,605
JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr13:50,913,185...50,916,944
Ensembl chr13:50,913,180...50,916,982
JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Crem cAMP responsive element modulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr17:57,021,704...57,090,888
Ensembl chr17:57,031,766...57,090,888
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21237254 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eppk1 epiplakin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 7:117,163,383...117,173,741 JBrowse link
G Frmd3 FERM domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 5:90,040,495...90,282,327
Ensembl chr 5:90,040,495...90,282,327
JBrowse link
G Gadd45a growth arrest and DNA-damage-inducible, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 4:97,782,512...97,784,814
Ensembl chr 4:97,782,512...97,784,842
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hbb hemoglobin subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 1:168,945,531...168,953,023
Ensembl chr 1:168,945,449...168,965,566
JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 1:168,992,841...168,994,219
Ensembl chr 1:168,992,722...168,994,253
JBrowse link
G Ints13 integrator complex subunit 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 4:180,854,988...180,887,095
Ensembl chr 4:180,855,800...180,887,050
JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21237254 NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723
JBrowse link
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 4:87,238,325...87,281,234
Ensembl chr 4:87,237,949...87,281,157
JBrowse link
G Osm oncostatin M ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr14:84,457,487...84,469,426
Ensembl chr14:84,465,515...84,470,409
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G Rab11a RAB11a, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 8:70,192,975...70,215,719
Ensembl chr 8:70,192,975...70,215,719
JBrowse link
G Rpa1 replication protein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr10:62,140,419...62,191,518
Ensembl chr10:62,140,419...62,191,512
JBrowse link
G Rsu1 Ras suppressor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr17:80,388,477...80,577,338
Ensembl chr17:80,389,157...80,577,027
JBrowse link
G Serpinb9 serpin family B member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr17:32,648,846...32,673,047
Ensembl chr17:32,650,441...32,661,865
JBrowse link
G Tgm1 transglutaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21237254 NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
JBrowse link
G Tob1 transducer of ErbB-2.1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr10:81,913,689...81,915,727
Ensembl chr10:81,913,689...81,915,716
JBrowse link
G Zfp683 zinc finger protein 683 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17101203 NCBI chr 5:152,280,982...152,288,208 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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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:11971877, PMID:14595024, PMID:15580218, PMID:16527883, PMID:19673875, PMID:19934105, PMID:20506269, PMID:22161697, PMID:22513199, PMID:25741868, PMID:25845478, PMID:26025129, PMID:27106250, PMID:27577878, PMID:28492532, PMID:30290665, PMID:30311386, PMID:31443670 NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
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:25910211, PMID:28492532 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      skin disease 2765
        Acneiform Eruptions 49
          Acne Keloid 0
          Chloracne 33
          acne + 15
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
            Acneiform Eruptions 49
              Acne Keloid 0
              Chloracne 33
              acne + 15
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.