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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:keratosis palmoplantaris striata 2
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Accession:DOID:0081109 term browser browse the term
Definition:A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24. (DO)
Synonyms:exact_synonym: KPPS2;   Keratoderma, Palmoplantar, Striate Form II;   Keratosis Palmoplantaris Striata II;   PPKS2;   SPPK2;   Striate Palmoplantar Keratoderma II
 primary_id: MESH:C565102
 alt_id: DOID:9006504;   OMIM:612908


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keratosis palmoplantaris striata 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata II		 OMIM
CTD
ClinVar		 PMID:3198322 PMID:9536098 PMID:9887343 PMID:10594734 PMID:12101406 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      skin disease 4047
        Genetic Skin Diseases 1852
          palmoplantar keratosis 44
            keratosis palmoplantaris striata 4
              keratosis palmoplantaris striata 2 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              Genetic Skin Diseases 1852
                palmoplantar keratosis 44
                  keratosis palmoplantaris striata 4
                    keratosis palmoplantaris striata 2 1
paths to the root