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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 chrNW_004955451:15,890,101...15,896,282
Ensembl chrNW_004955451:15,890,343...15,896,282
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 chrNW_004955547:558,296...562,455
Ensembl chrNW_004955547:558,927...564,376
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 chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207
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 chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207
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 chrNW_004955458:25,193...29,282
Ensembl chrNW_004955458:25,187...29,208
JBrowse link
G Krt9 keratin 9 ISO OMIM NCBI chrNW_004955451:15,890,101...15,896,282
Ensembl chrNW_004955451:15,890,343...15,896,282
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 chrNW_004955451:15,890,101...15,896,282
Ensembl chrNW_004955451:15,890,343...15,896,282
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 chrNW_004955467:13,304,314...13,325,228
Ensembl chrNW_004955467:13,306,496...13,325,300
JBrowse link
G Trpv3 transient receptor potential cation channel subfamily V member 3 ISO OMIM NCBI chrNW_004955467:13,246,099...13,276,741
Ensembl chrNW_004955467:13,248,599...13,276,718
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 chrNW_004955451:15,993,055...16,004,152
Ensembl chrNW_004955451:15,989,180...16,004,155
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 chrNW_004955458:25,193...29,282
Ensembl chrNW_004955458:25,187...29,208
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 chrNW_004955402:47,599,503...47,649,537
Ensembl chrNW_004955402:47,599,150...47,649,885
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    sensory system disease 4936
      skin disease 2584
        keratosis 122
          palmoplantar keratosis 27
            Diffuse Palmoplantar Keratoderma 8
              Beardwell Syndrome 0
              Palmoplantar Keratoderma, Nagashima Type 1
              epidermolytic palmoplantar keratoderma + 2
              nonepidermolytic palmoplantar keratoderma + 6
Path 2
Term Annotations click to browse term
  disease 12816
    disease of anatomical entity 12508
      nervous system disease 10350
        sensory system disease 4936
          skin disease 2584
            keratosis 122
              palmoplantar keratosis 27
                Diffuse Palmoplantar Keratoderma 8
                  Beardwell Syndrome 0
                  Palmoplantar Keratoderma, Nagashima Type 1
                  epidermolytic palmoplantar keratoderma + 2
                  nonepidermolytic palmoplantar keratoderma + 6
paths to the root