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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:Diffuse Palmoplantar Keratoderma
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Accession:DOID:9002223 term browser browse the term
Definition:An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one genotypically distinct form, each of which is clinically similar but histologically distinguishable. Diffuse palmoplantar keratoderma is distinct from palmoplantar keratoderma (KERATODERMA, PALMOPLANTAR), as the former exhibits autosomal dominant inheritance and hyperhidrosis is frequently present.
Synonyms:exact_synonym: Keratosis Palmaris et Plantaris Familiaris;   Thost Unna Syndrome;   Tylosis
 primary_id: MESH:D015776
For additional species annotation, visit the Alliance of Genome Resources.



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Diffuse Palmoplantar Keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT9 keratin 9 ISO EPPK, OMIM:144200 RGD PMID:7512862 RGD:1600065 NCBI chr 9:21,204,213...21,210,793
Ensembl chr 9:21,203,618...21,209,421
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 chr27:4,735,313...4,742,975
Ensembl chr27:4,735,538...4,737,650
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 OMIM
ClinVar
PMID:8769422 PMID:9229116 PMID:9536098 PMID:10594734 PMID:11063735 More... NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
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 chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
JBrowse link
epidermolytic 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: Epidermolytic palmoplantar keratoderma OMIM
ClinVar
PMID:11286630 NCBI chr27:2,422,150...2,427,160 JBrowse link
G KRT9 keratin 9 ISO ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma OMIM
ClinVar
PMID:152116 PMID:1385292 PMID:2531643 PMID:2960371 PMID:7511021 More... NCBI chr 9:21,204,213...21,210,793
Ensembl chr 9:21,203,618...21,209,421
JBrowse link
Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT9 keratin 9 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic, with knuckle pads ClinVar PMID:1385292 PMID:2531643 PMID:7512862 PMID:7523529 PMID:12192490 More... NCBI chr 9:21,204,213...21,210,793
Ensembl chr 9:21,203,618...21,209,421
JBrowse link
focal nonepidermolytic palmoplantar keratoderma 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: Isolated focal non-epidermolytic palmoplantar keratoderma ClinVar NCBI chr 9:47,322,817...47,338,202
Ensembl chr 9:47,322,820...47,338,108
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 chr 9:47,365,275...47,398,198
Ensembl chr 9:47,368,544...47,401,362
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 IAGP Palmoplantar keratoderma, nonepidermolytic, focal 1 OMIA PMID:25521457 NCBI chr 9:21,167,714...21,170,650 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 chr 9:47,365,275...47,398,198
Ensembl chr 9:47,368,544...47,401,362
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 chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071
JBrowse link
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 chr27:2,422,150...2,427,160 JBrowse link
Palmoplantar Keratoderma, Nagashima Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINB7 serpin family B member 7 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, Nagashima type OMIM
ClinVar
PMID:24207119 PMID:24514002 PMID:24773080 PMID:25741868 PMID:28492532 NCBI chr 1:13,336,067...13,392,674
Ensembl chr 1:13,336,837...13,358,125
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14890
    sensory system disease 6137
      skin disease 3663
        keratosis 145
          palmoplantar keratosis 34
            Diffuse Palmoplantar Keratoderma 9
              Beardwell Syndrome 0
              Palmoplantar Keratoderma, Nagashima Type 1
              epidermolytic palmoplantar keratoderma + 2
              nonepidermolytic palmoplantar keratoderma + 7
Path 2
Term Annotations click to browse term
  disease 14890
    disease of anatomical entity 14560
      nervous system disease 12398
        sensory system disease 6137
          skin disease 3663
            keratosis 145
              palmoplantar keratosis 34
                Diffuse Palmoplantar Keratoderma 9
                  Beardwell Syndrome 0
                  Palmoplantar Keratoderma, Nagashima Type 1
                  epidermolytic palmoplantar keratoderma + 2
                  nonepidermolytic palmoplantar keratoderma + 7
paths to the root