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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:Epidermodysplasia Verruciformis 3
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Accession:DOID:9006571 term browser browse the term
Synonyms:exact_synonym: EV3;   epidermodysplasia verruciformis, susceptibility to, 3
 primary_id: MIM:618267


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Epidermodysplasia Verruciformis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib1 calcium and integrin binding 1 susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 OMIM
ClinVar		 PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 More... NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    syndrome 11180
      primary immunodeficiency disease 4306
        epidermodysplasia verruciformis 6
          Epidermodysplasia Verruciformis 3 1
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      Urogenital Diseases 5271
        Female Urogenital Diseases and Pregnancy Complications 2502
          Female Urogenital Diseases 2031
            female reproductive system disease 2028
              uterine disease 512
                cervix disease 228
                  Uterine Cervical Neoplasms 228
                    papillomavirus infectious disease 61
                      skin papilloma 41
                        epidermodysplasia verruciformis 6
                          Epidermodysplasia Verruciformis 3 1
paths to the root