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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 and True Hermaphroditism
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Accession:DOID:9004267 term browser browse the term
Synonyms:primary_id: MESH:C567165;   RDO:0015313



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Palmoplantar Hyperkeratosis and True Hermaphroditism 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 and true hermaphroditism ClinVar PMID:18085567 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
    sensory system disease 7035
      skin disease 4108
        keratosis 181
          palmoplantar keratosis 42
            Palmoplantar Hyperkeratosis and True Hermaphroditism 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 and True Hermaphroditism 1
paths to the root