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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 chr11:100,186,781...100,193,246
Ensembl chr11:100,186,781...100,193,246
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
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:7531539 PMID:23830519 PMID:25741868 PMID:34298581 NCBI chr15:99,591,028...99,594,829
Ensembl chr15:99,590,782...99,594,829
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO
IEA
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
OMIM:605676
ClinVar Annotator: match by term: Cardiomyopathy dilated with woolly hair and keratoderma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy, woolly hair, keratoderma
ClinVar Annotator: match by OMIM:605676
OMIM
ClinVar
MouseDO
CTD
PMID:8769422 PMID:9536098 PMID:10594734 PMID:11063735 PMID:11841538 More... NCBI chr13:38,151,294...38,198,577
Ensembl chr13:38,151,294...38,198,577
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
ClinVar Annotator: match by OMIM:615821
OMIM
ClinVar
PMID:15941723 PMID:16628197 PMID:16774985 PMID:20716751 PMID:20940358 More... NCBI chr13:38,151,294...38,198,577
Ensembl chr13:38,151,294...38,198,577
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 OMIM:144200 OMIM
ClinVar
PMID:11286630 NCBI chr15:101,845,426...101,850,786
Ensembl chr15:101,845,426...101,850,794
JBrowse link
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Localized epidermolytic hyperkeratosis ClinVar PMID:25741868 PMID:28492532 NCBI chr11:100,246,091...100,248,902
Ensembl chr11:100,246,091...100,248,902
JBrowse link
G Krt9 keratin 9 ISO ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma
ClinVar Annotator: match by term: Localized epidermolytic hyperkeratosis
ClinVar Annotator: match by OMIM:144200
OMIM
ClinVar
PMID:152116 PMID:1385292 PMID:2531643 PMID:2960371 PMID:7511021 More... NCBI chr11:100,186,781...100,193,246
Ensembl chr11:100,186,781...100,193,246
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 null
ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic, with knuckle pads
ClinVar PMID:1385292 PMID:2531643 PMID:7512862 PMID:7523529 PMID:12192490 More... NCBI chr11:100,186,781...100,193,246
Ensembl chr11:100,186,781...100,193,246
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:25741868 NCBI chr11:100,246,091...100,248,902
Ensembl chr11:100,246,091...100,248,902
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 chr11:73,326,560...73,346,592
Ensembl chr11:73,329,741...73,346,044
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 OMIM
ClinVar
PMID:21285946 PMID:24452206 PMID:25285920 PMID:25741868 PMID:28492532 More... NCBI chr11:73,267,489...73,300,368
Ensembl chr11:73,267,388...73,300,363
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: Naxos disease
ClinVar Annotator: match by OMIM:601214
OMIM
ClinVar
PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 More... NCBI chr11:100,368,856...100,397,839
Ensembl chr11:100,368,958...100,397,763
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 chr15:101,845,426...101,850,786
Ensembl chr15:101,845,426...101,850,794
JBrowse link
G Krt16 keratin 16 IEA OMIM:600962 | OMIM:613000 | OMIM:615735 MouseDO NCBI chr11:100,246,091...100,248,902
Ensembl chr11:100,246,091...100,248,902
JBrowse link
G Rhbdf2 rhomboid 5 homolog 2 IEA OMIM:600962 | OMIM:613000 | OMIM:615735 MouseDO NCBI chr11:116,598,148...116,626,960
Ensembl chr11:116,598,165...116,627,019
JBrowse link
Palmoplantar Keratoderma, Nagashima Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinb7 serine (or cysteine) peptidase inhibitor, clade B, member 7 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nagashima type
ClinVar Annotator: match by OMIM:615598
OMIM
ClinVar
PMID:24207119 PMID:24514002 PMID:24773080 PMID:25741868 NCBI chr 1:107,422,689...107,452,689
Ensembl chr 1:107,399,655...107,452,689
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    sensory system disease 5514
      skin disease 2868
        keratosis 141
          palmoplantar keratosis 32
            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 14615
    disease of anatomical entity 14222
      nervous system disease 11653
        sensory system disease 5514
          skin disease 2868
            keratosis 141
              palmoplantar keratosis 32
                Diffuse Palmoplantar Keratoderma 10
                  Beardwell Syndrome 0
                  Palmoplantar Keratoderma, Nagashima Type 1
                  epidermolytic palmoplantar keratoderma + 3
                  nonepidermolytic palmoplantar keratoderma + 8
paths to the root