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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:Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
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Accession:DOID:9001360 term browser browse the term
Synonyms:exact_synonym: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
 narrow_synonym: PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM
 primary_id: MESH:C565693
 alt_id: OMIM:610644;   RDO:0009447;   RDO:0014259
For additional species annotation, visit the Alliance of Genome Resources.


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Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal ClinVar
OMIM
PMID:16158431, PMID:17041600 NCBI chr 5:142,986,526...143,007,847
Ensembl chr 5:142,986,526...143,007,831
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      skin disease 2758
        Skin Neoplasms 233
          Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          Urogenital Abnormalities 285
            disorder of sexual development 181
              46, XX Disorders of Sex Development 27
                46,XX sex reversal 7
                  Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
paths to the root

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