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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:Sunburn
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Accession:DOID:9003386 term browser browse the term
Definition:An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight.
Synonyms:exact_synonym: Sunburns
 related_synonym: Shep9;   Skin-Hair-Eye Pigmentation 9, Brown-Nonbrown Eyes;   Skin-Hair-Eye Pigmentation 9, Dark-Light Hair;   Skin-Hair-Eye Pigmentation 9, Freckling And Burning;   Skin-Hair-Eye Pigmentation 9, Red-Nonred Hair;   Skin/Hair/Eye Pigmentation, Variation In, 9
 primary_id: MESH:C567091;   MESH:D013471
 alt_id: DOID:9008294;   OMIM:611742
 xref: EFO:0003958


show annotations for term's descendants           Sort by:
Sunburn term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR ClinVar PMID:11833005 PMID:18488028 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Asip agouti signaling protein ISO ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR ClinVar
OMIM		 PMID:11833005 PMID:18488028 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171 		JBrowse link
G Eln elastin ISO mRNA:increased expression:skin: RGD PMID:8040608 RGD:9585745 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17470448 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Mmp9 matrix metallopeptidase 9 susceptibility ISO associated with skin melanoma;DNA:missense mutations:cds:p.Q279R, p.R668Q (human) RGD PMID:17346338 RGD:8547886 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO RGD PMID:18200051 RGD:6893371 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP: :rs2228570 (human) RGD PMID:19105801 RGD:8158067 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Wounds and Injuries 980
      Burns 94
        Sunburn 7
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              dermatitis 483
                photosensitivity disease 34
                  Sunburn 7
paths to the root