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ONTOLOGY REPORT - ANNOTATIONS


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: WHITE SPONGE NEVUS 1;   WSN1;   WSN2;   White Sponge Nevus 2;   hereditary mucosal leukokeratoses;   white sponge nevus;   white sponge nevus of cannon
 primary_id: MESH:D053529
 alt_id: OMIM:193900;   OMIM:615785;   RDO:0007622
 xref: ORDO:171723
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary mucosal leukokeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt13 keratin 13 JBrowse link 10 88,032,130 88,036,040 RGD:7240710
RGD:8554872
G Krt4 keratin 4 JBrowse link 7 143,517,562 143,523,522 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    sensory system disease 4231
      skin disease 2240
        Genetic Skin Diseases 576
          hereditary mucosal leukokeratosis 2
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          skin disease 2240
            Genetic Skin Diseases 576
              hereditary mucosal leukokeratosis 2
paths to the root