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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 null ClinVar PMID:18085567 NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    sensory system disease 5611
      skin disease 2954
        Genetic Skin Diseases 1046
          palmoplantar keratosis 32
            Palmoplantar Hyperkeratosis and True Hermaphroditism 1
Path 2
Term Annotations click to browse term
  disease 17208
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        Congenital Abnormalities 5589
          Urogenital Abnormalities 338
            disorder of sexual development 179
              46, XX Disorders of Sex Development 28
                46,XX sex reversal 7
                  Palmoplantar Hyperkeratosis and True Hermaphroditism 1
paths to the root