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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:mutilating palmoplantar keratoderma with periorificial keratotic plaques
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Accession:DOID:0112011 term browser browse the term
Definition:A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions. (DO)
Synonyms:exact_synonym: OLMS;   Olmsted syndrome;   mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques;   palmoplantar and periorificial keratoderma
 xref: GARD:4075;   MIM:PS614594;   ORDO:659


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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 PMID:25741868 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 ClinVar Annotator: match by term: Olmsted syndrome 1 OMIM
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
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 1:13,542,067...13,554,514
Ensembl chr 1:13,542,067...13,554,511 		JBrowse link
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Olmsted syndrome, X-linked OMIM
ClinVar		 PMID:17367233 PMID:22931912 PMID:25741868 PMID:28492532 NCBI chr  X:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
G Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: Olmsted syndrome, X-linked ClinVar PMID:25741868 NCBI chr  X:37,438,425...37,442,047
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    sensory system disease 7336
      skin disease 4312
        keratosis 188
          palmoplantar keratosis 44
            mutilating palmoplantar keratoderma with periorificial keratotic plaques 5
              Olmsted Syndrome 2 1
              X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques 2
              autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 2
Path 2
Term Annotations click to browse term
  disease 19106
    Pathological Conditions, Signs and Symptoms 13615
      Signs and Symptoms 11199
        Neurologic Manifestations 10433
          sensory system disease 7336
            skin disease 4312
              Genetic Skin Diseases 1881
                palmoplantar keratosis 44
                  mutilating palmoplantar keratoderma with periorificial keratotic plaques 5
                    Olmsted Syndrome 2 1
                    X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques 2
                    autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 2
paths to the root