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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:autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
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Accession:DOID:0112013 term browser browse the term
Definition:A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. (DO)
Synonyms:exact_synonym: OLMS1;   Olmsted syndrome 1;   PPKM1;   autosomal dominant Olmsted syndrome;   mutilating palmoplantar keratoderma with periorificial keratotic plaques 1
 primary_id: OMIM:614594


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autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Olmsted syndrome 1 ClinVar NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081 		JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Olmsted syndrome 1		 OMIM
CTD
ClinVar		 PMID:22405088 PMID:24452206 PMID:25741868 PMID:27273692 PMID:28492532 More... NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      skin disease 3969
        Genetic Skin Diseases 1853
          palmoplantar keratosis 44
            mutilating palmoplantar keratoderma with periorificial keratotic plaques 5
              autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              Genetic Skin Diseases 1853
                palmoplantar keratosis 44
                  mutilating palmoplantar keratoderma with periorificial keratotic plaques 5
                    autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 2
paths to the root