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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
 related_synonym: epidermodysplasia verruciformis, susceptibility to, 1
 primary_id: OMIM:226400
For additional species annotation, visit the Alliance of Genome Resources.


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Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name 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, 1 ClinVar
OMIM
PMID:12426567 PMID:15042430 PMID:17139267 PMID:25741868 PMID:28492532 NCBI chr10:106,766,857...106,783,004 JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    syndrome 7073
      primary immunodeficiency disease 2381
        epidermodysplasia verruciformis 5
          Epidermodysplasia Verruciformis 1 2
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      Urogenital Diseases 4178
        Female Urogenital Diseases and Pregnancy Complications 1935
          Female Urogenital Diseases 1641
            female reproductive system disease 1637
              Female Genital Neoplasms 626
                Uterine Neoplasms 428
                  Uterine Cervical Neoplasms 216
                    papillomavirus infectious disease 51
                      skin papilloma 36
                        epidermodysplasia verruciformis 5
                          Epidermodysplasia Verruciformis 1 2
paths to the root