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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 chr17:15,744,879...15,751,055
Ensembl chr17:15,963,459...15,967,939
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 OMIM NCBI chr12:38,789,505...38,793,305
Ensembl chr12:39,684,008...39,687,127
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
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 OMIM NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
JBrowse link
epidermolytic palmoplantar keratoderma 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: Localized epidermolytic hyperkeratosis ClinVar PMID:25741868 PMID:28492532 NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437
JBrowse link
G KRT9 keratin 9 ISO OMIM NCBI chr17:15,744,879...15,751,055
Ensembl chr17:15,963,459...15,967,939
JBrowse link
G LOC100970659 keratin, type II cytoskeletal 1 ISO OMIM NCBI chr12:36,083,858...36,089,521
Ensembl chr12:36,861,585...36,866,725
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 chr17:15,744,879...15,751,055
Ensembl chr17:15,963,459...15,967,939
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 OMIM NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437
JBrowse link
G KRT6C keratin 6C ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 1 ClinVar PMID:19609311 NCBI chr12:36,290,422...36,295,663 JBrowse link
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 chr17:3,120,296...3,532,343
Ensembl chr17:3,489,143...3,560,654
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO OMIM NCBI chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787
JBrowse link
focal or diffuse nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT6C keratin 6C ISO OMIM NCBI chr12:36,290,422...36,295,663 JBrowse link
Naxos disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JUP junction plakoglobin ISO OMIM NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479
JBrowse link
nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100970659 keratin, type II cytoskeletal 1 ISO OMIM NCBI chr12:36,083,858...36,089,521
Ensembl chr12:36,861,585...36,866,725
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 OMIM NCBI chr18:57,112,242...57,164,213
Ensembl chr18:60,445,135...60,475,165
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13941
    sensory system disease 5248
      skin disease 2747
        keratosis 133
          palmoplantar keratosis 30
            Diffuse Palmoplantar Keratoderma 10
              Beardwell Syndrome 0
              Palmoplantar Keratoderma, Nagashima Type 1
              epidermolytic palmoplantar keratoderma + 3
              nonepidermolytic palmoplantar keratoderma + 8
Path 2
Term Annotations click to browse term
  disease 13941
    disease of anatomical entity 13608
      nervous system disease 11208
        sensory system disease 5248
          skin disease 2747
            keratosis 133
              palmoplantar keratosis 30
                Diffuse Palmoplantar Keratoderma 10
                  Beardwell Syndrome 0
                  Palmoplantar Keratoderma, Nagashima Type 1
                  epidermolytic palmoplantar keratoderma + 3
                  nonepidermolytic palmoplantar keratoderma + 8
paths to the root