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: OMIM:PS193900;   ORDO:171723
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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 14875
    sensory system disease 4246
      skin disease 2253
        Genetic Skin Diseases 580
          hereditary mucosal leukokeratosis 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Genetic Skin Diseases 580
              hereditary mucosal leukokeratosis 2
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