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: aphthous stomatitis
Accession: DOID:9663
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Definition: A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. (DO)
Synonyms: exact_synonym: Aphthae; Aphthous Stomatitides; Aphthous Ulcer; Aphthous Ulcers; Canker Sore; Canker Sores; Periadenitis Mucosa Necrotica Recurrens; aphtha; aphthous ulceration; oral aphthae; oral aphthous ulcer
primary_id: MESH:D013281
xref: EFO:0003938 ; GARD:5834 ; ICD9CM:528.2 ; NCI:C62546
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Hfe
homeostatic iron regulator
ISO
DNA:missense mutation: :p.H63D (human)
RGD
PMID:28950260
RGD:14746964
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hspd1
heat shock protein family D (Hsp60) member 1
ISO
protein:increased expression:muccal mucosa:
RGD
PMID:20580281
RGD:12910477
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Il10
interleukin 10
ISO
DNA:SNP:promoter:-1082G>A (rs1800896) (human)
RGD
PMID:27266194
RGD:14975145
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Mthfr
methylenetetrahydrofolate reductase
severity
ISO
DNA:missense mutation:cds:677C>T (rs1801133) (human)
RGD
PMID:23665953
RGD:10449402
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Tgfb1
transforming growth factor, beta 1
ISO
DNA:SNP:promoter:-509T>C (human)
RGD
PMID:27266194
RGD:14975145
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Edn1
endothelin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16391412
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Hspd1
heat shock protein family D (Hsp60) member 1
ISO
associated with Behcet Syndrome;protein:increased expression:muccal mucosa:
RGD
PMID:20580281
RGD:12910477
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Lep
leptin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16391412
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Stat4
signal transducer and activator of transcription 4
ISO
associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human)
RGD
PMID:21719445
RGD:5147916
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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