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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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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: Keratoderma, palmoplantar striate form 1 | ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse
ClinVar
OMIM
RGD
PMID:7544663 PMID:10332028 PMID:11313759 PMID:15897387 PMID:16484817 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 | ClinVar Annotator: match by term: STRIATE PALMOPLANTAR KERATODERMA II OMIM
ClinVar
PMID:9536098 PMID:9887343 PMID:10594734 PMID:15941723 PMID:16175511 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 ClinVar Annotator: match by term: Keratosis palmoplantaris striata 3 OMIM
ClinVar
PMID:11286616 PMID:11982762 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 18256
    sensory system disease 6575
      skin disease 3880
        keratosis 152
          palmoplantar keratosis 36
            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 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            skin disease 3880
              Genetic Skin Diseases 1583
                palmoplantar keratosis 36
                  keratosis palmoplantaris striata 4
                    keratosis palmoplantaris striata 1 2
                    keratosis palmoplantaris striata 2 1
                    keratosis palmoplantaris striata 3 1
paths to the root