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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 chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017 		JBrowse link
G Uvssa UV-stimulated scaffold protein A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466610, PMID:22466612 NCBI chr14:82,621,028...82,658,912
Ensembl chr14:82,623,050...82,658,891 		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:10767341, PMID:15486090, PMID:18414213, PMID:19894250, PMID:22466610, PMID:22483866, PMID:22661500, PMID:22904069, PMID:25136123, PMID:25741868, PMID:25820262, PMID:28492532, PMID:30311386 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610 		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 OMIM:614621 OMIM
ClinVar		 PMID:19329487 NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017 		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 OMIM:614640
ClinVar Annotator: match by term: UV-sensitive syndrome 3		 OMIM
ClinVar		 PMID:3774595, PMID:3974603, PMID:7513056, PMID:10771487, PMID:19329487, PMID:22466610, PMID:22466612, PMID:30311386 NCBI chr14:82,621,028...82,658,912
Ensembl chr14:82,623,050...82,658,891 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      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 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                UV-sensitive syndrome 3
                  UV-Sensitive Syndrome 1 1
                  UV-Sensitive Syndrome 2 1
                  UV-Sensitive Syndrome 3 1
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.