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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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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 chr 5:15,876,527...15,879,608
Ensembl chr 5:15,876,407...15,880,067
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 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
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 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
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 OMIM NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
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 chr12:49,573,050...49,609,232 JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO OMIM NCBI chr12:49,638,852...49,671,671
Ensembl chr12:49,635,927...49,671,613
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 chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,211
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 OMIM NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
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 chr 1:157,953,872...157,999,242
Ensembl chr 1:157,953,870...157,998,842
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13699
    sensory system disease 5195
      skin disease 2713
        keratosis 127
          palmoplantar keratosis 27
            Diffuse Palmoplantar Keratoderma 7
              Beardwell Syndrome 0
              Palmoplantar Keratoderma, Nagashima Type 1
              epidermolytic palmoplantar keratoderma + 1
              nonepidermolytic palmoplantar keratoderma + 6
Path 2
Term Annotations click to browse term
  disease 13699
    disease of anatomical entity 13372
      nervous system disease 11019
        sensory system disease 5195
          skin disease 2713
            keratosis 127
              palmoplantar keratosis 27
                Diffuse Palmoplantar Keratoderma 7
                  Beardwell Syndrome 0
                  Palmoplantar Keratoderma, Nagashima Type 1
                  epidermolytic palmoplantar keratoderma + 1
                  nonepidermolytic palmoplantar keratoderma + 6
paths to the root