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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:focal nonepidermolytic palmoplantar keratoderma 2
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Accession:DOID:0111711 term browser browse the term
Definition:A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in TRPV3 on chromosome 17p13.2. (DO)
Synonyms:exact_synonym: FNEPPK2
 primary_id: OMIM:616400
For additional species annotation, visit the Alliance of Genome Resources.


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focal nonepidermolytic palmoplantar keratoderma 2 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: Palmoplantar keratoderma, nonepidermolytic, focal 2 ClinVar 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: Palmoplantar keratoderma, nonepidermolytic, focal 2 OMIM
ClinVar
PMID:21285946 PMID:24452206 PMID:25285920 PMID:25741868 PMID:28492532 More... NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    disease of cellular proliferation 7036
      benign neoplasm 1933
        cell type benign neoplasm 1746
          papilloma 65
            focal nonepidermolytic palmoplantar keratoderma 4
              focal nonepidermolytic palmoplantar keratoderma 2 2
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        sensory system disease 5611
          skin disease 2954
            Genetic Skin Diseases 1046
              palmoplantar keratosis 32
                Diffuse Palmoplantar Keratoderma 11
                  nonepidermolytic palmoplantar keratoderma 9
                    focal nonepidermolytic palmoplantar keratoderma 4
                      focal nonepidermolytic palmoplantar keratoderma 2 2
paths to the root