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: erythema nodosum
Accession: DOID:0080750
browse the term
Definition: A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter. (DO)
Synonyms: primary_id: MESH:D004893
G
C3
complement component 3
ISO
associated with Leprosy
RGD
PMID:2783924
RGD:7421527
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
G
Cfb
complement factor B
ISO
associated with Leprosy
RGD
PMID:2783924
RGD:7421527
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
G
Gstm1
glutathione S-transferase, mu 1
susceptibility
ISO
associated with Behcet Syndrome;DNA:deletion:: (human)
RGD
PMID:22766250
RGD:7794848
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
G
H2-M2
histocompatibility 2, M region locus 2
ISO
associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human)
RGD
PMID:12198697
RGD:7364926
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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H2-Q4
histocompatibility 2, Q region locus 4
ISO
associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human)
RGD
PMID:12198697
RGD:7364926
NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266
G
Lta
lymphotoxin A
ISO
associated with Sarcoidosis;DNA:polymorphism:intron
RGD
PMID:19225544
RGD:8548773
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Tnf
tumor necrosis factor
susceptibility
ISO
associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human)
RGD
PMID:12198697
RGD:7364926
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
susceptibility
ISO
associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human)
RGD
PMID:24880677
RGD:13217417
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
G
Psmb8
proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7)
ISO
ClinVar Annotator: match by term: Nodular erythema digital changes
ClinVar
PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 PMID:25741868 PMID:26524591 PMID:28492532 More...
NCBI chr17:34,417,169...34,420,428
Ensembl chr17:34,416,695...34,420,428
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