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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:9005618 term browser browse the term
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
 primary_id: MESH:C536162
 alt_id: OMIM:148700;   RDO:0001626
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 OMIM:148700
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Keratosis palmoplantaris striata 1
OMIM
ClinVar
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    sensory system disease 5611
      skin disease 2954
        keratosis 141
          palmoplantar keratosis 32
            Keratosis Palmoplantaris Striata 1 2
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          skin disease 2954
            keratosis 141
              palmoplantar keratosis 32
                Keratosis Palmoplantaris Striata 1 2
paths to the root