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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 Keratoderma, Norrbotten Recessive Type
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Accession:DOID:9006003 term browser browse the term
Synonyms:primary_id: MESH:C565454
 alt_id: OMIM:244850


show annotations for term's descendants           Sort by:
Palmoplantar Keratoderma, Norrbotten Recessive Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpina12 serpin family A member 12 ISO ClinVar Annotator: match by term: Keratoderma, palmoplantar, Norrbotten recessive type ClinVar PMID:32247861 NCBI chr 6:122,952,552...122,967,271
Ensembl chr 6:122,952,552...122,967,271 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      skin disease 3969
        keratosis 185
          palmoplantar keratosis 44
            Palmoplantar Keratoderma, Norrbotten Recessive Type 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              Genetic Skin Diseases 1853
                palmoplantar keratosis 44
                  Palmoplantar Keratoderma, Norrbotten Recessive Type 1
paths to the root