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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:Olmsted Syndrome 2
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Accession:DOID:9008575 term browser browse the term
Definition:Mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities, caused by heterozygous mutation in the PERP gene on chromosome 6q23. (OMIM)
Synonyms:exact_synonym: OLMS2;   PPKM2;   mutilating palmoplantar keratoderma with periorificial keratotic plaques 2
 primary_id: OMIM:619208


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Olmsted Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PERP p53 apoptosis effector related to PMP22 ISO ClinVar Annotator: match by term: Olmsted syndrome 2 OMIM
ClinVar		 PMID:30321533 PMID:31361044 NCBI chr 1:30,418,847...30,435,287
Ensembl chr 1:30,419,963...30,435,859 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    sensory system disease 6598
      skin disease 3758
        keratosis 177
          palmoplantar keratosis 42
            mutilating palmoplantar keratoderma with periorificial keratotic plaques 5
              Olmsted Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12025
      Signs and Symptoms 9902
        Neurologic Manifestations 9577
          sensory system disease 6598
            skin disease 3758
              Genetic Skin Diseases 1819
                palmoplantar keratosis 42
                  mutilating palmoplantar keratoderma with periorificial keratotic plaques 5
                    Olmsted Syndrome 2 1
paths to the root