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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:X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
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Accession:DOID:0112012 term browser browse the term
Definition:A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. (DO)
Synonyms:exact_synonym: OLMSX;   PPKMX;   X-linked Olmsted syndrome
 primary_id: OMIM:300918


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Olmsted syndrome, X-linked		 OMIM
CTD
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 21128
    sensory system disease 6939
      skin disease 3960
        Genetic Skin Diseases 1850
          palmoplantar keratosis 44
            mutilating palmoplantar keratoderma with periorificial keratotic plaques 5
              X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            skin disease 3960
              Genetic Skin Diseases 1850
                palmoplantar keratosis 44
                  mutilating palmoplantar keratoderma with periorificial keratotic plaques 5
                    X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques 2
paths to the root