Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 MBTPS2 on chromosome Xp22.12. (DO)
Synonyms:exact_synonym: OLMSX;   PPKMX;   X-linked Olmsted syndrome
 primary_id: OMIM:300918
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 OMIM:300918
ClinVar Annotator: match by term: Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
OMIM
ClinVar
PMID:17367233 PMID:22931912 PMID:25741868 NCBI chr  X:37,410,914...37,461,130
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 17205
    sensory system disease 5611
      skin disease 2954
        Genetic Skin Diseases 1046
          palmoplantar keratosis 32
            mutilating palmoplantar keratoderma with periorificial keratotic plaques 4
              X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          skin disease 2954
            keratosis 141
              palmoplantar keratosis 32
                mutilating palmoplantar keratoderma with periorificial keratotic plaques 4
                  X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques 1
paths to the root