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ONTOLOGY REPORT - ANNOTATIONS


Term:UV-sensitive syndrome
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Accession:DOID:0060240 term browser browse the term
Definition:An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines). (DO)
Synonyms:primary_id: MESH:C563466
 alt_id: RDO:0012713
 xref: OMIM:PS600630;   ORDO:178338
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UV-sensitive syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
RGD:11554173
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:11554173
G Uvssa UV-stimulated scaffold protein A JBrowse link 14 82,621,028 82,658,912 RGD:11554173
UV-Sensitive Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:7240710
RGD:8554872
UV-Sensitive Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:7240710
RGD:8554872
UV-Sensitive Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uvssa UV-stimulated scaffold protein A JBrowse link 14 82,621,028 82,658,912 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    syndrome 5162
      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 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4656
            autosomal genetic disease 3617
              autosomal recessive disease 2056
                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.