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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
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Accession:DOID:9663 term browser browse the term
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: GARD:5834;   ICD9CM:528.2;   NCI:C62546
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
aphthous stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hfe homeostatic iron regulator ISO
ISS
DNA:missense mutation: :p.H63D (human) MouseDO
RGD
PMID:28950260 RGD:14746964 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G 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
JBrowse link
G Il10 interleukin 10 ISO
ISS
DNA:SNP:promoter:-1082G>A (rs1800896) (human) MouseDO
RGD
PMID:27266194 RGD:14975145 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO
ISS
DNA:missense mutation:cds:677C>T (rs1801133) (human) MouseDO
RGD
PMID:23665953 RGD:10449402 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO
ISS
DNA:SNP:promoter:-509T>C (human) MouseDO
RGD
PMID:27266194 RGD:14975145 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
Oral Ulcer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    sensory system disease 6393
      mouth disease 836
        stomatitis 58
          aphthous stomatitis 8
            Oral Ulcer 4
            Sutton Disease 2 0
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        sensory system disease 6393
          mouth disease 836
            lip disease 194
              stomatitis 58
                aphthous stomatitis 8
                  Oral Ulcer 4
                  Sutton Disease 2 0
paths to the root