Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:xeroderma pigmentosum group F
go back to main search page
Accession:DOID:0110848 term browser browse the term
Definition:A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: XERODERMA PIGMENTOSUM VI;   XERODERMA PIGMENTOSUM, TYPE F;   XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME;   XP, Group F;   XP6;   XP6 XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME;   XPF;   XPF/CS;   Xeroderma Pigmentosum, Complementation Group F
 primary_id: MESH:C562592;   RDO:0012240
 alt_id: OMIM:278760
 xref: ICD10CM:Q82.1;   NCI:C3968


show annotations for term's descendants           Sort by:
xeroderma pigmentosum group F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP
EXP
ISS		 ClinVar Annotator: match by term: Xeroderma pigmentosum, type F/Cockayne syndrome
ClinVar Annotator: match by term: Xeroderma pigmentosum, group F
CTD Direct Evidence: marker/mechanism
OMIM:278760		 ClinVar
OMIM
CTD
MouseDO		 PMID:8797827 PMID:9485007 PMID:9536098 PMID:9579555 PMID:9580660 More... NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G LOC130058543 ATAC-STARR-seq lymphoblastoid active region 10486 IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:9580660 PMID:16550608 PMID:24465539 PMID:24728327 PMID:25741868 More... NCBI chr16:13,919,998...13,920,357 JBrowse link
G LOC130058544 ATAC-STARR-seq lymphoblastoid active region 10487 IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:9580660 PMID:28492532 NCBI chr16:13,920,398...13,920,607 JBrowse link
G MIR193B microRNA 193b IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr16:14,303,967...14,304,049
Ensembl chr16:14,303,967...14,304,049 		JBrowse link
G MIR365A microRNA 365a IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr16:14,309,285...14,309,371
Ensembl chr16:14,309,285...14,309,371 		JBrowse link
G MRTFB myocardin related transcription factor B IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr16:13,994,774...14,266,779
Ensembl chr16:14,071,319...14,266,773 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    syndrome 18145
      xeroderma pigmentosum 32
        xeroderma pigmentosum group F 7
Path 2
Term Annotations click to browse term
  disease 35773
    Pathological Conditions, Signs and Symptoms 21536
      Signs and Symptoms 16400
        Neurologic Manifestations 15470
          sensory system disease 9826
            skin disease 4968
              dermatitis 538
                photosensitivity disease 45
                  xeroderma pigmentosum 32
                    xeroderma pigmentosum group F 7
paths to the root