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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
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Accession:DOID:13777 term browser browse the term
Definition:An autosomal recessive trait with impaired cell-mediated immunity. About 15 human papillomaviruses are implicated in associated infection, four of which lead to skin neoplasms. The disease begins in childhood with red papules and later spreads over the body as gray or yellow scales.
Synonyms:exact_synonym: EV;   Lewandowsky Lutz disease;   Lewandowsky-Lutz syndrome;   Lutz-Lewandowsky epidermodysplasia verruciformis
 primary_id: MESH:D004819
 xref: GARD:6357;   NCI:C126877;   OMIM:PS226400;   ORDO:302
For additional species annotation, visit the Alliance of Genome Resources.

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epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel like 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis		 CTD
ClinVar		 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 ClinVar PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299 		JBrowse link
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 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
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS 2
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2		 ClinVar
OMIM		 PMID:10084299 PMID:12426567 PMID:28646613 NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299 		JBrowse link
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 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 ClinVar
OMIM		 PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28646613 PMID:30068544 NCBI chr 1:142,014,962...142,020,461
Ensembl chr 1:142,014,958...142,020,525 		JBrowse link
Epidermodysplasia Verruciformis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoh ras homolog family member H susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 ClinVar
OMIM		 PMID:22850876 NCBI chr14:43,961,756...43,992,587
Ensembl chr14:43,961,756...43,992,587 		JBrowse link
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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      primary immunodeficiency disease 2373
        epidermodysplasia verruciformis 5
          Epidermodysplasia Verruciformis 1 2
          Epidermodysplasia Verruciformis 2 1
          Epidermodysplasia Verruciformis 3 1
          Epidermodysplasia Verruciformis 4 1
          Epidermodysplasia Verruciformis 5 1
          Epidermodysplasia Verruciformis, X-Linked 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Urogenital Diseases 4159
        Female Urogenital Diseases and Pregnancy Complications 1924
          Female Urogenital Diseases 1629
            female reproductive system disease 1625
              Female Genital Neoplasms 624
                Uterine Neoplasms 424
                  Uterine Cervical Neoplasms 213
                    papillomavirus infectious disease 49
                      skin papilloma 35
                        epidermodysplasia verruciformis 5
                          Epidermodysplasia Verruciformis 1 2
                          Epidermodysplasia Verruciformis 2 1
                          Epidermodysplasia Verruciformis 3 1
                          Epidermodysplasia Verruciformis 4 1
                          Epidermodysplasia Verruciformis 5 1
                          Epidermodysplasia Verruciformis, X-Linked 0
paths to the root