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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:hereditary mucosal leukokeratosis
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Accession:DOID:0050448 term browser browse the term
Definition:An autosomal dominant disorder that is manifested by thickened spongiform ORAL MUCOSA with a white opalescent tint. Other MUCOSAL TISSUE may also be involved mucosa found in the VAGINA; RECTUM, and NASAL CAVITY may be similarly involved. This form of LEUKOKERATOSIS can be caused by a mutation in the gene for KERATIN 4 and is not considered a PRENEOPLASTIC CONDITION.
Synonyms:exact_synonym: WSN1;   WSN2;   hereditary mucosal leukokeratoses;   white sponge nevus;   white sponge nevus 1;   white sponge nevus 2;   white sponge nevus of cannon
 primary_id: MESH:D053529
 alt_id: OMIM:193900;   OMIM:615785
 xref: NCI:C84760;   OMIM:PS193900;   ORDO:171723
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
hereditary mucosal leukokeratosis 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 of cannon
ClinVar Annotator: match by term: White sponge nevus 2		 OMIM
ClinVar		 PMID:7493031 PMID:7532199 PMID:14600690 PMID:28492532 NCBI chr10:88,032,130...88,036,040
Ensembl chr10:88,032,130...88,036,040 		JBrowse link
G Krt4 keratin 4 ISO ClinVar Annotator: match by OMIM:193900
ClinVar Annotator: match by term: White sponge nevus of cannon		 OMIM
ClinVar		 PMID:10652003 PMID:12828738 PMID:28492532 NCBI chr 7:143,517,562...143,523,522
Ensembl chr 7:143,518,010...143,523,503 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    sensory system disease 5584
      skin disease 2945
        Genetic Skin Diseases 1041
          hereditary mucosal leukokeratosis 2
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        sensory system disease 5584
          skin disease 2945
            Genetic Skin Diseases 1041
              hereditary mucosal leukokeratosis 2
paths to the root