Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma
go back to main search page
Accession:DOID:9008147 term browser browse the term
Definition:CAPOK syndrome is characterized by onset of symptoms in the first year of life, with the development of progressive alopecia, hypo- and hyperpigmented macular skin lesions, palmoplantar keratoderma, and nail dystrophy. Beginning in the third decade of life, patients develop recurrent squamous cell carcinomas. Some patients may have brittle teeth resulting in tooth loss, and multinodular goiter has been observed. CAPOK can be caused by homozygous mutation in the SASH1 gene on chromosome 6q24. (OMIM)
Synonyms:exact_synonym: CAPOK
 primary_id: OMIM:618373
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sash1 SAM and SH3 domain containing 1 JBrowse link 1 2,782,905 2,950,749 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Pathological Conditions, Signs and Symptoms 8013
      Anatomical Pathological Conditions 1323
        Malformed Nails 20
          Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          skin disease 2445
            hair disease 227
              hypotrichosis 110
                alopecia 77
                  Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.