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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 1
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Accession:DOID:9004020 term browser browse the term
Synonyms:exact_synonym: EV1;   TMC6-RELATED CONDITION
 related_synonym: epidermodysplasia verruciformis, susceptibility to, 1
 primary_id: OMIM:226400

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Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel like 6 susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition ClinVar
OMIM		 PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More... NCBI chrNW_004936594:2,743,466...2,759,482
Ensembl chrNW_004936594:2,744,722...2,758,907 		JBrowse link
G Tmc8 transmembrane channel like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 ClinVar PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 More... NCBI chrNW_004936594:2,760,649...2,768,438
Ensembl chrNW_004936594:2,762,019...2,768,682 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      primary immunodeficiency disease 3538
        epidermodysplasia verruciformis 6
          Epidermodysplasia Verruciformis 1 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      Urogenital Diseases 4489
        Female Urogenital Diseases and Pregnancy Complications 2224
          Female Urogenital Diseases 1840
            female reproductive system disease 1837
              uterine disease 476
                cervix disease 212
                  Uterine Cervical Neoplasms 212
                    papillomavirus infectious disease 56
                      skin papilloma 42
                        epidermodysplasia verruciformis 6
                          Epidermodysplasia Verruciformis 1 2
paths to the root