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
Accession: DOID:9001519
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Ahnak
AHNAK nucleoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17101203
NCBI chr 1:205,882,225...205,970,934
Ensembl chr 1:205,882,273...205,970,926
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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
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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
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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
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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
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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
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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
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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
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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 Ensembl chr18:79,651,378...79,654,054
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21237254
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Eppk1
epiplakin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17101203
NCBI chr 7:107,816,919...107,842,946
Ensembl chr 7:107,817,693...107,831,159
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Frmd3
FERM domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17101203
NCBI chr 5:87,764,755...88,031,091
Ensembl chr 5:87,764,604...88,031,091
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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
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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
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Gstm5
glutathione S-transferase, mu 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17101203
NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
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Hba-a2
hemoglobin alpha, adult chain 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17101203
NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392
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Hba-a3
hemoglobin alpha, adult chain 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17101203
NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481
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Hbb
hemoglobin subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17101203
NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
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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
Ensembl chr 1:158,120,200...158,252,012
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Hbg1
hemoglobin subunit gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17101203
NCBI chr 1:158,271,871...158,273,426
Ensembl chr 1:158,271,873...158,273,425
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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
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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
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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
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Nt5c3a
5'-nucleotidase, cytosolic IIIA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17101203
NCBI chr 4:86,161,642...86,204,656
Ensembl chr 4:86,161,643...86,204,628
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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
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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
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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
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Rpa1
replication protein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17101203
NCBI chr10:60,148,869...60,199,970
Ensembl chr10:60,148,793...60,199,949
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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
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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
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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
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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
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Zfp683
zinc finger protein 683
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17101203
NCBI chr 5:146,277,972...146,285,856
Ensembl chr 5:146,278,978...146,285,000
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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
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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 | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 PMID:16199547 PMID:16527883 PMID:17576681 PMID:19673875 PMID:19934105 PMID:20506269 PMID:22161697 PMID:22513199 PMID:23571383 PMID:24139496 PMID:25683018 PMID:25741868 PMID:25845478 PMID:26025129 PMID:26386126 PMID:27106250 PMID:27577878 PMID:28492532 PMID:28628471 PMID:28960754 PMID:29150835 PMID:29432774 PMID:30198636 PMID:30290665 PMID:30783801 PMID:31119601 PMID:31789267 PMID:32054657 PMID:32441320 PMID:32888943 PMID:33597285 PMID:34273117 PMID:34399798 PMID:34620178 PMID:35152348 PMID:35482138 More...
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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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 PMID:28492532 More...
NCBI chr 1:235,873,576...235,891,597
Ensembl chr 1:235,873,576...235,891,597
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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 PMID:25910211 PMID:28492532 More...
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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