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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:white sponge nevus 1
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Accession:DOID:0081287 term browser browse the term
Definition:A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13. (DO)
Synonyms:exact_synonym: WSN1
 primary_id: OMIM:193900


show annotations for term's descendants           Sort by:
white sponge nevus 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt13 keratin 13 ISO ClinVar Annotator: match by term: White sponge nevus 1 ClinVar NCBI chr10:85,051,887...85,056,099
Ensembl chr10:85,051,889...85,056,084 		JBrowse link
G Krt4 keratin 4 ISO ClinVar Annotator: match by term: White sponge nevus 1 OMIM
ClinVar		 PMID:10652003 PMID:12828738 PMID:25741868 PMID:28492532 NCBI chr 7:133,046,067...133,052,027
Ensembl chr 7:133,046,515...133,052,019 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      skin disease 3969
        Genetic Skin Diseases 1853
          white sponge nevus 2
            white sponge nevus 1 2
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              Genetic Skin Diseases 1853
                white sponge nevus 2
                  white sponge nevus 1 2
paths to the root