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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 2
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Accession:DOID:9006415 term browser browse the term
Synonyms:exact_synonym: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2;   EV2
 primary_id: MIM:618231


show annotations for term's descendants           Sort by:
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:3,002,689...3,018,059
Ensembl chr 9:2,805,651...3,016,309 		JBrowse link
G TMC8 transmembrane channel like 8 susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis 2 | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 OMIM
ClinVar		 PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 More... NCBI chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15726
    syndrome 10497
      primary immunodeficiency disease 4018
        epidermodysplasia verruciformis 6
          Epidermodysplasia Verruciformis 2 2
Path 2
Term Annotations click to browse term
  disease 15726
    disease of anatomical entity 15371
      Urogenital Diseases 4896
        Female Urogenital Diseases and Pregnancy Complications 2578
          Female Urogenital Diseases 2114
            female reproductive system disease 2111
              uterine disease 497
                cervix disease 223
                  Uterine Cervical Neoplasms 223
                    papillomavirus infectious disease 60
                      skin papilloma 41
                        epidermodysplasia verruciformis 6
                          Epidermodysplasia Verruciformis 2 2
paths to the root