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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:nonepidermolytic palmoplantar keratoderma
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Accession:DOID:0050428 term browser browse the term
Definition:A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. (DO)
Synonyms:exact_synonym: NEPPK;   NONEPIDERMOLYTIC PALMOPLANTAR HYPERKERATOSIS;   PPKNE;   tylosis
 narrow_synonym: diffuse nonepidermolytic palmomplantar keratoderma;   diffuse nonepidermolytic palmoplantar keratoderma;   diffuse orthohyperkeratotic keratoderma;   keratosis palmoplantaris diffusa circumscripta
 broad_synonym: palmoplantar keratoderma, nonepidermolytic, focal or diffuse
 primary_id: MESH:C563422
 alt_id: OMIM:600962
 xref: EFO:1000743;   MONDO:0014327;   NCI:C3147;   ORDO:2337
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Diffuse nonepidermolytic palmoplantar keratoderma OMIM
ClinVar		 PMID:7528239 PMID:12406346 PMID:19470048 PMID:25741868 PMID:28492532 NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844 		JBrowse link
G Krt16 keratin 16 ISS OMIM:600962 | OMIM:613000 | OMIM:615735 MouseDO NCBI chr10:85,168,357...85,171,744
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
Bothnian type palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp5 aquaporin 5 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, Bothnian type OMIM
ClinVar		 PMID:7531539 PMID:23830519 PMID:25741868 PMID:34298581 NCBI chr 7:130,722,675...130,726,207
Ensembl chr 7:130,721,748...130,726,209 		JBrowse link
Carvajal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8769422 PMID:9229116 PMID:9536098 PMID:10594734 PMID:11063735 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis OMIM
ClinVar		 PMID:9536098 PMID:15941723 PMID:16175511 PMID:16199547 PMID:16628197 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
focal nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC683313 similar to keratin complex 2, basic, gene 6a ISO ClinVar Annotator: match by term: Focal palmoplantar keratoderma ClinVar PMID:19609311 NCBI chr 7:132,799,608...132,804,045
Ensembl chr 7:132,799,616...132,804,045 		JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma 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: Isolated focal non-epidermolytic palmoplantar keratoderma ClinVar PMID:21285946 PMID:24452206 PMID:25285920 PMID:25741868 PMID:28492532 NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296 		JBrowse link
focal nonepidermolytic palmoplantar keratoderma 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 1 OMIM
ClinVar		 PMID:8595410 PMID:16250206 PMID:24491404 PMID:25741868 PMID:28492532 More... NCBI chr10:85,168,357...85,171,744
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
focal nonepidermolytic palmoplantar keratoderma 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO OMIM NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296 		JBrowse link
focal or diffuse nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC683313 similar to keratin complex 2, basic, gene 6a ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal or diffuse OMIM
ClinVar		 PMID:19609311 PMID:23662636 PMID:25741868 PMID:28492532 NCBI chr 7:132,799,608...132,804,045
Ensembl chr 7:132,799,616...132,804,045 		JBrowse link
Naxos disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease OMIM
ClinVar		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    sensory system disease 6575
      skin disease 3880
        keratosis 152
          palmoplantar keratosis 36
            nonepidermolytic palmoplantar keratoderma 8
              Bothnian type palmoplantar keratoderma 1
              Naxos disease + 2
              focal nonepidermolytic palmoplantar keratoderma + 4
              focal or diffuse nonepidermolytic palmoplantar keratoderma 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        Neurologic Manifestations 9338
          sensory system disease 6575
            skin disease 3880
              Genetic Skin Diseases 1583
                palmoplantar keratosis 36
                  Diffuse Palmoplantar Keratoderma 10
                    nonepidermolytic palmoplantar keratoderma 8
                      Bothnian type palmoplantar keratoderma 1
                      Naxos disease + 2
                      focal nonepidermolytic palmoplantar keratoderma + 4
                      focal or diffuse nonepidermolytic palmoplantar keratoderma 1
paths to the root