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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:UV-sensitive syndrome
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Accession:DOID:0060240 term browser browse the term
Definition:A skin disease characterized by photosensitivity and liver spots (solar lentigines). (DO)
Synonyms:primary_id: MESH:C563466
 xref: OMIM:PS600630;   ORDO:178338
For additional species annotation, visit the Alliance of Genome Resources.


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UV-sensitive syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26972010 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859 		JBrowse link
G Uvssa UV-stimulated scaffold protein A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466610 PMID:22466612 NCBI chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903 		JBrowse link
UV-Sensitive Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 1 | ClinVar Annotator: match by term: UV-sensitive syndrome 1 OMIM
ClinVar		 PMID:7264357 PMID:9443879 PMID:9777763 PMID:10196384 PMID:10767341 More... NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
UV-Sensitive Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: UV-sensitive syndrome 2 OMIM
ClinVar		 PMID:18414213 PMID:19329487 PMID:25741868 PMID:28492532 NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859 		JBrowse link
UV-Sensitive Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uvssa UV-stimulated scaffold protein A ISO ClinVar Annotator: match by term: UV-sensitive syndrome 3 OMIM
ClinVar		 PMID:3774595 PMID:3974603 PMID:7513056 PMID:10771487 PMID:19329487 More... NCBI chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      UV-sensitive syndrome 3
        UV-Sensitive Syndrome 1 1
        UV-Sensitive Syndrome 2 1
        UV-Sensitive Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                UV-sensitive syndrome 3
                  UV-Sensitive Syndrome 1 1
                  UV-Sensitive Syndrome 2 1
                  UV-Sensitive Syndrome 3 1
paths to the root