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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:Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma
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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.



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Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sash1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA OMIM
ClinVar
PMID:25315659 NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Pathological Conditions, Signs and Symptoms 10261
      Anatomical Pathological Conditions 2003
        Malformed Nails 22
          Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          skin disease 2974
            hair disease 247
              hypotrichosis 120
                alopecia 83
                  Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 1
paths to the root