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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
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Accession:DOID:0081105 term browser browse the term
Definition:A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. (DO)
Synonyms:xref: ORDO:50942



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keratosis palmoplantaris striata 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col20a1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse ClinVar PMID:29934816 NCBI chr 3:168,102,475...168,134,759
Ensembl chr 3:168,084,560...168,135,309
JBrowse link
G Dsg1 desmoglein 1 ISO DNA:snp:intron:IVS2-1G>A (human)
ClinVar Annotator: match by term: DSG1-related condition | ClinVar Annotator: match by term: Keratoderma, palmoplantar striate form 1 | ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:7544663 PMID:10332028 PMID:11122035 PMID:11313759 PMID:15897387 More... RGD:1598781 NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
JBrowse link
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 term: Keratosis palmoplantaris striata 2 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata II
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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
keratosis palmoplantaris striata 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratosis palmoplantaris striata 3
OMIM
CTD
ClinVar
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      skin disease 4319
        keratosis 189
          palmoplantar keratosis 44
            keratosis palmoplantaris striata 4
              keratosis palmoplantaris striata 1 2
              keratosis palmoplantaris striata 2 1
              keratosis palmoplantaris striata 3 1
Path 2
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Signs and Symptoms 11214
        Neurologic Manifestations 10450
          sensory system disease 7375
            skin disease 4319
              Genetic Skin Diseases 1889
                palmoplantar keratosis 44
                  keratosis palmoplantaris striata 4
                    keratosis palmoplantaris striata 1 2
                    keratosis palmoplantaris striata 2 1
                    keratosis palmoplantaris striata 3 1
paths to the root