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: oral submucous fibrosis
Accession: DOID:5773
browse the term
Definition: A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues. (DO)
Synonyms: exact_synonym: Oral Submucous Fibroses; Oral cavity Submucous Fibrosis; oral submucosal fibrosis; oral submucosal fibrosis, including of tongue
primary_id: MESH:D009914
xref: GARD:7264 ; ICD10CM:K13.5 ; ICD9CM:528.8 ; NCI:C34866
For additional species annotation, visit the
Alliance of Genome Resources .
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Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16311067
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Col1a2
collagen type I alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16311067
NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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Cst3
cystatin C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16311067
NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16311067
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16311067
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:22752755
RGD:14701000
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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Gstt1
glutathione S-transferase theta 1
ISO
RGD
PMID:18573513 , PMID:22752755
RGD:14700981 , RGD:14701000
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16311067
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28984080
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16311067
NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
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Mill1
MHC I like leukocyte 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16311067
NCBI chr 1:79,631,266...79,657,943
Ensembl chr 1:79,631,668...79,657,941
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Mmp1
matrix metallopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16311067
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16311067
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16311067
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16311067
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16311067 , PMID:10680515
RGD:7394849
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16311067
NCBI chr X:1,364,771...1,369,451
Ensembl chr X:1,364,786...1,369,384
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16311067
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tp53
tumor protein p53
ISO
protein:increased expression:oral mucosa:
RGD
PMID:23776093
RGD:8547855
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Zeb1
zinc finger E-box binding homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26934322
NCBI chr17:54,656,627...54,714,920
Ensembl chr17:54,658,463...54,714,914
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