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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_004955452:15,415,417...15,435,616
Ensembl chrNW_004955452:15,415,932...15,435,656
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    sensory system disease 6559
      skin disease 3840
        keratosis 169
          palmoplantar keratosis 38
            Palmoplantar Hyperkeratosis and True Hermaphroditism 1
Path 2
Term Annotations click to browse term
  disease 14337
    Developmental Disease 12609
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11872
        Congenital Abnormalities 7228
          Urogenital Abnormalities 429
            disorder of sexual development 223
              gonadal dysgenesis 57
                46,XX sex reversal 6
                  Palmoplantar Hyperkeratosis and True Hermaphroditism 1
paths to the root