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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 1
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Accession:DOID:0081108 term browser browse the term
Definition:A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12. (DO)
Synonyms:exact_synonym: KPPS1;   Keratoderma, Palmoplantar, Striate Form I;   Keratosis Palmoplantaris Striata I;   PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE;   PPKS1;   SPPK1;   Striate palmoplantar keratoderma 1;   keratoderma, palmoplantar striate form 1;   striate palmoplantar keratoderma I
 broad_synonym: DSG1-RELATED CONDITION
 primary_id: MESH:C536162
 alt_id: DOID:9005618;   OMIM:148700
 xref: GARD:9172;   ORDO:369999;   ORDO:370002


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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 chr17:62,395,383...62,419,054 JBrowse link
G DSG1 desmoglein 1 ISO 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 OMIM
ClinVar		 PMID:7544663 PMID:10332028 PMID:11122035 PMID:11313759 PMID:15897387 More... NCBI chr 6:115,237,836...115,272,944
Ensembl chr 6:115,237,677...115,276,645 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15278
    sensory system disease 6601
      skin disease 3814
        Genetic Skin Diseases 1792
          palmoplantar keratosis 39
            keratosis palmoplantaris striata 4
              keratosis palmoplantaris striata 1 2
Path 2
Term Annotations click to browse term
  disease 15278
    disease of anatomical entity 14926
      nervous system disease 13022
        Neurologic Manifestations 9491
          sensory system disease 6601
            skin disease 3814
              Genetic Skin Diseases 1792
                palmoplantar keratosis 39
                  keratosis palmoplantaris striata 4
                    keratosis palmoplantaris striata 1 2
paths to the root