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: Stevens-Johnson syndrome
Accession: DOID:0050426
browse the term
Definition: A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection. (DO)
Synonyms: exact_synonym: Drug Induced Stevens Johnson Syndrome; Lyell Syndrome; Lyell's Syndrome; Lyell's Syndromes; Mycoplasma Induced Stevens Johnson Syndrome; Nonstaphylococcal Scalded Skin Syndrome; SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO; Stevens Johnson Syndrome Toxic Epidermal Necrolysis; Stevens Johnson Syndrome Toxic Epidermal Necrolysis Spectrum; Toxic Epidermal Necrolyses; drug-induced Stevens-Johnson syndromes; toxic epidermal necrolysis
narrow_synonym: STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO; carbamazepine-induced hypersensitivity syndrome, susceptibility to; toxic epidermal necrolysis, susceptibility to
primary_id: MESH:D013262
alt_id: OMIM:608579
xref: GARD:7700 ; ICD10CM:L51.1 ; ICD9CM:695.13 ; NCI:C79484 ; NCI:C79777
For additional species annotation, visit the
Alliance of Genome Resources .
G
Alb
albumin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12239465
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
G
Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
G
Celf2
CUGBP, Elav-like family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr17:75,259,269...75,660,154
Ensembl chr17:75,352,389...75,654,951
G
Clu
clusterin
ISO
mRNA:decreased expression:conjunctiva
RGD
PMID:12036968
RGD:8699507
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
G
Cops5
COP9 signalosome subunit 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 5:8,876,090...8,894,345
Ensembl chr 5:8,876,044...8,894,339
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11321886
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
G
Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
G
Cul1
cullin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 4:77,211,814...77,283,369
Ensembl chr 4:77,211,692...77,280,250
G
Cul4a
cullin 4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr16:81,718,784...81,756,653
Ensembl chr16:81,719,028...81,756,654
G
Derl1
derlin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 7:97,737,176...97,759,852
Ensembl chr 7:97,737,178...97,759,852
G
Elmo1
engulfment and cell motility 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr17:46,352,102...46,888,788
Ensembl chr17:46,353,330...46,794,845
G
Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
G
Fbxo6
F-box protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 5:164,956,285...164,962,075
Ensembl chr 5:164,956,280...164,959,851
G
Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:28689274
RGD:14700974
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
G
LOC100364500
RT1 class I, locus CE11-like
susceptibility
ISO
ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:16538176 PMID:21428769 PMID:23588310
NCBI chr20:2,704,153...2,707,111
Ensembl chr20:2,704,148...2,707,120
G
Mif
macrophage migration inhibitory factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9372356
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
G
Nedd4
NEDD4 E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 8:79,323,408...79,408,842
Ensembl chr 8:79,323,408...79,408,833
G
Nfkbiz
NFKB inhibitor zeta
ISS
MouseDO
NCBI chr11:47,243,342...47,271,487
Ensembl chr11:47,243,342...47,271,487
G
Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10620138
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
G
Nucb1
nucleobindin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 1:101,480,160...101,511,029
Ensembl chr 1:101,480,145...101,500,850
G
Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
G
Pml
PML nuclear body scaffold
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 8:63,002,515...63,034,310
Ensembl chr 8:63,004,870...63,034,226
G
Psmc5
proteasome 26S subunit, ATPase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr10:94,445,877...94,451,811
Ensembl chr10:94,445,877...94,451,811
G
Ptger3
prostaglandin E receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21966456
NCBI chr 2:263,895,093...263,979,682
Ensembl chr 2:263,895,241...263,979,698
G
Ptgis
prostaglandin I2 synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 3:163,950,746...163,986,129
G
Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
G
Rbx1
ring-box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 7:122,700,849...122,710,907
Ensembl chr 7:122,700,854...122,709,935
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0601 (human)
RGD
PMID:8841298
RGD:7483570
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
G
RT1-CE13
RT1 class I, locus CE13
susceptibility
ISO
DNA:polymorphisms:cds:HLA-B*5801 (human, Japanese) DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human)
RGD
PMID:19018717 , PMID:23692434
RGD:7364874 , RGD:7365090
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:blister:
RGD
PMID:9852250
RGD:7401184
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Vcp
valosin-containing protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all