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
Accession: DOID:0050448
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
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 chr10:85,051,887...85,056,099
Ensembl chr10:85,051,889...85,056,084
G
Krt4
keratin 4
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: White sponge nevus of cannon
CTD ClinVar MouseDO
PMID:25741868 PMID:28492532
NCBI chr 7:133,046,067...133,052,027
Ensembl chr 7:133,046,515...133,052,019
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
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
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 chr10:85,051,887...85,056,099
Ensembl chr10:85,051,889...85,056,084
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