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: Vogt-Koyanagi-Harada disease
Accession: DOID:12297
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Definition: An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. (DO)
Synonyms: exact_synonym: Harada's disease; Uveomeningoencephalitis; VKH Syndrome; VKH Syndrome (Vogt Koyanagi Harada); Vogt Koyanagi Harada syndrome; Vogt-Koyanagi syndrome; uveomeningoencephalitic syndrome; uveomeningoencephalitides
primary_id: MESH:D014607
xref: GARD:7862 ; ICD10CM:H20.82 ; ICD9CM:364.24 ; MONDO:0018092 ; NCI:C85218
For additional species annotation, visit the
Alliance of Genome Resources .
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ifng
interferon gamma
ISO
associated with uveitis;protein:increased expression:aqueous humor:
RGD
PMID:21334264
RGD:8142356
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
G
Itgb2
integrin subunit beta 2
ISO
protein:decreased expression:T cell
RGD
PMID:21297967
RGD:6482200
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism: : HLA-DQA1*0301
RGD
PMID:11835809
RGD:8547565
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms:cds:multiple (human) DNA:snps:promoter:g.-227G>A, g.-189C>A (human)
RGD
PMID:17605936 PMID:19176112
RGD:7421525 , RGD:7421581
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphisms (human) DNA:polymorphisms: :HLA-DRB1*0405, HLA-DRB1*0410(human) DNA:polymorphism: :HLA-DRB1*0405(human)
RGD
PMID:15603876 PMID:10527396 PMID:20216938 PMID:9548078
RGD:5147653 , RGD:5147857 , RGD:7365067 , RGD:7365099
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Stat4
signal transducer and activator of transcription 4
ISO
DNA:SNP: :rs7574865 (human)
RGD
PMID:20438790
RGD:8661713
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Tnf
tumor necrosis factor
ISO
associated with uveitis;protein:increased expression:aqueous humor:
RGD
PMID:21334264
RGD:8142356
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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