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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 3
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Accession:DOID:9000001 term browser browse the term
Synonyms:exact_synonym: KPPS3;   Keratoderma, Palmoplantar, Striate Form III;   Keratosis Palmoplantaris Striata III;   PPKS3;   SPPK3;   Striate palmoplantar keratoderma 3;   palmoplantar keratoderma, striate form 3;   striate palmoplantar keratoderma III
 primary_id: MESH:C536163
 alt_id: OMIM:607654
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 OMIM:607654 OMIM
ClinVar
PMID:11286616 PMID:11982762 NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    sensory system disease 5658
      skin disease 2974
        keratosis 141
          palmoplantar keratosis 32
            Keratosis Palmoplantaris Striata 3 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          skin disease 2974
            keratosis 141
              palmoplantar keratosis 32
                Keratosis Palmoplantaris Striata 3 1
paths to the root