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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:actinic keratosis
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Accession:DOID:8866 term browser browse the term
Definition:White or pink lesions on the arms, hands, face, or scalp that arise from sun-induced DNA DAMAGE to KERATINOCYTES in exposed areas. They are considered precursor lesions to superficial SQUAMOUS CELL CARCINOMA.
Synonyms:exact_synonym: Actinic Keratoses;   SK - Solar keratosis;   Senile hyperkeratosis;   Solar Keratosis;   actinic (Solar) Keratosis
 primary_id: MESH:D055623;   RDO:0007715
 xref: ICD10CM:L57.0;   ICD9CM:702.0;   NCI:C3148
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
actinic keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 ISO RGD PMID:22179182 RGD:13782258 NCBI chr 1:256,382,861...256,386,729
Ensembl chr 1:256,382,791...256,386,729
JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding protein severity ISO DNA:mutation:cds: p.Ala40Glu (human) RGD PMID:30972880 RGD:28867225 NCBI chr 3:110,618,256...110,638,024
Ensembl chr 3:110,618,298...110,638,046
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:missense mutation:cds:p.A481T (rs74653330) (human) RGD PMID:24617981 RGD:9491831 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16042
    disease of cellular proliferation 5918
      pre-malignant neoplasm 289
        actinic keratosis 4
          Familial Actinic Keratosis 0
Path 2
Term Annotations click to browse term
  disease 16042
    disease of anatomical entity 15294
      nervous system disease 10900
        sensory system disease 5231
          skin disease 2765
            keratosis 187
              actinic keratosis 4
                Familial Actinic Keratosis 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.