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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 1
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Accession:DOID:9006274 term browser browse the term
Synonyms:exact_synonym: UVSS1
 primary_id: OMIM:600630
 alt_id: RDO:0008765
 xref: NCI:C173106


show annotations for term's descendants           Sort by:
UV-Sensitive Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 1 | ClinVar Annotator: match by term: UV-sensitive syndrome 1 ClinVar
OMIM		 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      UV-sensitive syndrome 3
        UV-Sensitive Syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              dermatitis 481
                photosensitivity disease 33
                  UV-sensitive syndrome 3
                    UV-Sensitive Syndrome 1 1
paths to the root