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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 2
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Accession:DOID:9000316 term browser browse the term
Synonyms:exact_synonym: UVSS2
 primary_id: OMIM:614621
 xref: NCI:C173110
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      UV-sensitive syndrome 3
        UV-Sensitive Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                UV-sensitive syndrome 3
                  UV-Sensitive Syndrome 2 1
paths to the root