Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:9004267 term browser browse the term
Synonyms:primary_id: MESH:C567165;   RDO:0015313


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
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 chr20:95,232,114...95,255,160
Ensembl chr20:95,237,071...95,255,932
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    sensory system disease 6938
      skin disease 4059
        keratosis 180
          palmoplantar keratosis 41
            Palmoplantar Hyperkeratosis and True Hermaphroditism 1
Path 2
Term Annotations click to browse term
  disease 15417
    Developmental Disease 13505
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12666
        Congenital Abnormalities 7666
          Urogenital Abnormalities 449
            disorder of sexual development 231
              gonadal dysgenesis 60
                46,XX sex reversal 7
                  Palmoplantar Hyperkeratosis and True Hermaphroditism 1
paths to the root