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: Eczema
Accession: DOID:9007356
browse the term
Definition: A pruritic papulovesicular dermatitis occurring as a reaction to many endogenous and exogenous agents (Dorland, 27th ed).
Synonyms: exact_synonym: Eczemas; Eczematous Dermatitides; Eczematous Dermatitis
primary_id: MESH:D004485
xref: NCI:C3001
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Cd14
CD14 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19759553
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd80
Cd80 molecule
ISO
DNA:SNP
RGD
PMID:22192168
RGD:6893665
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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Dock8
dedicator of cytokinesis 8
ISO
DNA:mutations: :
RGD
PMID:22534316
RGD:40902960
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Flg
filaggrin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Eczema
CTD ClinVar
PMID:3163778 PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17291859 PMID:17417636 PMID:18325573 PMID:19501237 PMID:19839980 PMID:19874431 PMID:21514438 PMID:22164253 PMID:22403702 PMID:23947670 PMID:24033266 PMID:24920311 PMID:25741868 PMID:27279822 PMID:27363669 PMID:30681730 PMID:31365035 PMID:31637781 PMID:32066784 PMID:32325630 More...
NCBI chr 2:178,884,793...178,912,986
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Havcr2
hepatitis A virus cellular receptor 2
ISO
RGD
PMID:16159638
RGD:5128852
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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Ifngr1
interferon gamma receptor 1
resistance
ISO
DNA: snps: rs7749390, rs10457655 DNA: insertion: exon 5: neo cassette
RGD
PMID:21458658 PMID:21458658
RGD:6480259 , RGD:6480259
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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Il13
interleukin 13
no_association
ISO
DNA:polymorphisms: :multiple DNA:SNP:CDS:p.R130Q (rs20541) (human)
RGD
PMID:18410415 PMID:23815671
RGD:8549512 , RGD:8549530
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il18
interleukin 18
ISO
DNA:SNPs:promoter, exon:multiple
RGD
PMID:15806006
RGD:8655937
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il4r
interleukin 4 receptor
susceptibility
ISO
DNA:SNP: : rs2057768 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19759553 PMID:20002627
RGD:4890389
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Plau
plasminogen activator, urokinase
ISO
RGD
PMID:19416247
RGD:6483821
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:22192168
RGD:6893665
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Xdh
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: Eczema
ClinVar
PMID:25741868 PMID:28492532 PMID:30755392
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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