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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


show annotations for term's descendants           Sort by:
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 IAGP ClinVar Annotator: match by term: Olmsted syndrome 1 ClinVar NCBI chr17:3,440,019...3,513,858
Ensembl chr17:3,440,019...3,513,852 		JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP
EXP		 ClinVar Annotator: match by term: Olmsted syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22405088 PMID:24452206 PMID:25741868 PMID:27273692 PMID:28492532 More... NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812 		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 IAGP ClinVar Annotator: match by term: Olmsted syndrome 2 OMIM
ClinVar		 PMID:30321533 PMID:31361044 NCBI chr 6:138,088,505...138,107,419
Ensembl chr 6:138,088,505...138,107,419 		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 IAGP
EXP		 ClinVar Annotator: match by term: Olmsted syndrome, X-linked
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17367233 PMID:22931912 PMID:25741868 PMID:28492532 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G YY2 YY2 transcription factor IAGP ClinVar Annotator: match by term: Olmsted syndrome, X-linked ClinVar PMID:25741868 NCBI chr  X:21,855,987...21,858,740
Ensembl chr  X:21,855,987...21,858,740 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9730
      skin disease 4874
        keratosis 265
          palmoplantar keratosis 57
            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 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            skin disease 4874
              Genetic Skin Diseases 2469
                palmoplantar keratosis 57
                  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