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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 5
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Accession:DOID:9004313 term browser browse the term
Synonyms:exact_synonym: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5;   EV5
 primary_id: OMIM:618309
For additional species annotation, visit the Alliance of Genome Resources.


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Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il7 interleukin 7 susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      primary immunodeficiency disease 2510
        epidermodysplasia verruciformis 5
          Epidermodysplasia Verruciformis 5 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Urogenital Diseases 4199
        Female Urogenital Diseases and Pregnancy Complications 1945
          Female Urogenital Diseases 1649
            female reproductive system disease 1645
              Female Genital Neoplasms 626
                Uterine Neoplasms 429
                  Uterine Cervical Neoplasms 217
                    papillomavirus infectious disease 52
                      skin papilloma 36
                        epidermodysplasia verruciformis 5
                          Epidermodysplasia Verruciformis 5 1
paths to the root