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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:0081110 term browser browse the term
Definition:A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. (DO)
Synonyms:exact_synonym: KPPS3;   Keratosis Palmoplantaris Striata III;   PPKS3;   SPPK3;   Striate palmoplantar keratoderma 3;   palmoplantar keratoderma, striate form 3;   palmoplantar keratoderma, striate form III;   striate palmoplantar keratoderma III
 primary_id: MESH:C536163
 alt_id: DOID:9000001;   MIM:607654


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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 19106
    sensory system disease 7336
      skin disease 4312
        Genetic Skin Diseases 1881
          palmoplantar keratosis 44
            keratosis palmoplantaris striata 4
              keratosis palmoplantaris striata 3 1
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        Neurologic Manifestations 10433
          sensory system disease 7336
            skin disease 4312
              Genetic Skin Diseases 1881
                palmoplantar keratosis 44
                  keratosis palmoplantaris striata 4
                    keratosis palmoplantaris striata 3 1
paths to the root