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Pathways

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
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Accession:DOID:0050448 term browser browse the term
Definition:A skin disease characterized by a defect in the normal process of keratinization of the mucosa. (DO)
Synonyms:exact_synonym: hereditary mucosal leukokeratoses;   hereditary mucosal leukokeratosis;   white sponge nevus of Cannon
 primary_id: MESH:D053529
 xref: GARD:8501;   MIM:PS193900;   NCI:C84760;   ORDO:171723



show annotations for term's descendants           Sort by:
white sponge nevus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt13 keratin 13 ISO
ISS
CTD Direct Evidence: marker/mechanism CTD
MouseDO
NCBI chr10:85,552,287...85,556,499
Ensembl chr10:85,552,287...85,556,499
JBrowse link
G Krt4 keratin 4 ISO
ISS
CTD Direct Evidence: marker/mechanism CTD
MouseDO
NCBI chr 7:134,924,753...134,931,050
Ensembl chr 7:134,924,753...134,930,713
JBrowse link
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 chr10:85,552,287...85,556,499
Ensembl chr10:85,552,287...85,556,499
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 7:134,924,753...134,931,050
Ensembl chr 7:134,924,753...134,930,713
JBrowse link
white sponge nevus 2 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 2 ClinVar
OMIM
PMID:7493031 PMID:7532199 PMID:14600690 PMID:25741868 PMID:28492532 NCBI chr10:85,552,287...85,556,499
Ensembl chr10:85,552,287...85,556,499
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      skin disease 4336
        Genetic Skin Diseases 1865
          white sponge nevus 2
            white sponge nevus 1 2
            white sponge nevus 2 1
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              Genetic Skin Diseases 1865
                white sponge nevus 2
                  white sponge nevus 1 2
                  white sponge nevus 2 1
paths to the root