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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 chrNW_004936474:19,826,808...19,846,453
Ensembl chrNW_004936474:19,827,669...19,842,726
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    sensory system disease 6687
      skin disease 3922
        keratosis 175
          palmoplantar keratosis 40
            Palmoplantar Hyperkeratosis and True Hermaphroditism 1
Path 2
Term Annotations click to browse term
  disease 14638
    Developmental Disease 12844
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12086
        Congenital Abnormalities 7345
          Urogenital Abnormalities 434
            disorder of sexual development 226
              gonadal dysgenesis 58
                46,XX sex reversal 6
                  Palmoplantar Hyperkeratosis and True Hermaphroditism 1
paths to the root