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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:9006504 term browser browse the term
Synonyms:exact_synonym: KPPS2;   Keratoderma, Palmoplantar, Striate Form II;   Keratosis Palmoplantaris Striata II;   PPKS2;   SPPK2;   Striate Palmoplantar Keratoderma II
 primary_id: MESH:C565102;   RDO:0013837
 alt_id: OMIM:612908
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by OMIM:612908
ClinVar Annotator: match by term: STRIATE PALMOPLANTAR KERATODERMA II
ClinVar Annotator: match by term: Keratosis palmoplantaris striata II
OMIM
ClinVar
PMID:9887343 PMID:10594734 PMID:15941723 PMID:16774985 PMID:16917092 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 17240
    sensory system disease 5615
      skin disease 2956
        keratosis 141
          palmoplantar keratosis 32
            Keratosis Palmoplantaris Striata 2 1
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        sensory system disease 5615
          skin disease 2956
            keratosis 141
              palmoplantar keratosis 32
                Keratosis Palmoplantaris Striata 2 1
paths to the root