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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;   RSPO1-RELATED CONDITION
 narrow_synonym: PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM
 primary_id: MESH:C565693
 alt_id: MIM:610644;   RDO:0009447;   RDO:0014259



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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 Annotator: match by term: RSPO1-related condition OMIM
ClinVar
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 NCBI chr15:4,857,887...4,876,077
Ensembl chr15:4,856,853...4,876,800
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15758
    disease of cellular proliferation 7487
      Neoplasms by Site 6941
        Skin Neoplasms 489
          Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
Path 2
Term Annotations click to browse term
  disease 15758
    Developmental Disease 13759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12838
        Congenital Abnormalities 7760
          Urogenital Abnormalities 448
            disorder of sexual development 233
              gonadal dysgenesis 57
                46,XX sex reversal 6
                  Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
paths to the root