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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;   OMIM:PS614594;   ORDO:659
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr10:59,893,064...59,910,769
Ensembl chr10:59,879,850...59,911,051
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:28492532 PMID:28587736 NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
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 1:14,224,392...14,236,838
Ensembl chr 1:14,224,393...14,236,846
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: Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
ClinVar Annotator: match by OMIM:300918
OMIM
ClinVar
PMID:17367233 PMID:22931912 PMID:25741868 NCBI chr  X:40,258,933...40,309,047
Ensembl chr  X:40,258,493...40,310,563
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    sensory system disease 5599
      skin disease 2948
        keratosis 139
          palmoplantar keratosis 31
            mutilating palmoplantar keratoderma with periorificial keratotic plaques 4
              Olmsted Syndrome 2 1
              X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques 1
              autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 2
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        sensory system disease 5599
          skin disease 2948
            keratosis 139
              palmoplantar keratosis 31
                mutilating palmoplantar keratoderma with periorificial keratotic plaques 4
                  Olmsted Syndrome 2 1
                  X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques 1
                  autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 2
paths to the root