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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:palmoplantar keratosis
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Accession:DOID:3390 term browser browse the term
Definition:A keratosis characterized by abnormal thickening of the palms and the soles. (DO)
Synonyms:exact_synonym: Hyperkeratosis Palmaris et Plantaris;   Keratosis Palmaris et Plantaris;   Palmoplantar Keratoderma;   Palmoplantar Keratodermas;   Palmoplantar Keratoses;   palmo-plantar keratodermas
 primary_id: MESH:D007645
 alt_id: OMIA:001327
 xref: GARD:8167;   ICD10CM:L85.2;   NCI:C34748
For additional species annotation, visit the Alliance of Genome Resources.


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palmoplantar keratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aagab alpha and gamma adaptin binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Palmoplantar keratoderma
CTD
ClinVar
PMID:23064416 PMID:25741868 NCBI chrNW_004955450:8,694,829...8,742,816
Ensembl chrNW_004955450:8,694,892...8,741,701
JBrowse link
G Fam83g family with sequence similarity 83 member G ISO Hyperkeratosis, palmoplantar, FAM83G-related OMIA PMID:10701186 PMID:12828257 PMID:24832243 PMID:26747202 PMID:29963719 NCBI chrNW_004955467:594,921...623,661
Ensembl chrNW_004955467:595,490...623,566
JBrowse link
G Gja1 gap junction protein alpha 1 ISO DNA:mutation:cds:c.23G>A,p.G8V(human) RGD PMID:25168385 RGD:12910125 NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
JBrowse link
G Gjb2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
G Jup junction plakoglobin ISO Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG RGD PMID:10902626 RGD:1600286 NCBI chrNW_004955451:15,993,055...16,004,152
Ensembl chrNW_004955451:15,989,180...16,004,155
JBrowse link
G Krt9 keratin 9 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:1385292 PMID:2531643 PMID:7512862 PMID:7523529 PMID:12838553 More... NCBI chrNW_004955451:15,890,101...15,896,282
Ensembl chrNW_004955451:15,890,343...15,896,282
JBrowse link
G Sash1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:25315659 NCBI chrNW_004955439:12,551,361...12,729,500
Ensembl chrNW_004955439:12,550,273...12,839,896
JBrowse link
G Slurp1 secreted LY6/PLAUR domain containing 1 ISO DNA:frameshift mutation, nonsense mutation, snp:cds, intron:p.C28fs32X, p.R96X, IVS2+1G>A (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11285253 PMID:25168896 RGD:1599051 NCBI chrNW_004955454:1,440,534...1,449,123
Ensembl chrNW_004955454:1,447,437...1,449,299
Ensembl chrNW_004955454:1,447,437...1,449,299
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:28492532 NCBI chrNW_004955453:14,528,373...14,540,801
Ensembl chrNW_004955453:14,528,153...14,540,818
JBrowse link
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 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: Olmsted syndrome 1 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
Bart-Pumphrey syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO OMIM NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
Basaran Yilmaz Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
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
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sash1 SAM and SH3 domain containing 1 ISO OMIM NCBI chrNW_004955439:12,551,361...12,729,500
Ensembl chrNW_004955439:12,550,273...12,839,896
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
CEDNIK syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snap29 synaptosome associated protein 29 ISO OMIM NCBI chrNW_004955442:19,419,381...19,446,782
Ensembl chrNW_004955442:19,419,821...19,446,665
JBrowse link
Cole Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO OMIM NCBI chrNW_004955436:12,416,147...12,477,214
Ensembl chrNW_004955436:12,415,737...12,480,359
JBrowse link
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg1 desmoglein 1 ISO OMIM NCBI chrNW_004955402:18,668,717...18,704,329
Ensembl chrNW_004955402:18,668,196...18,700,630
JBrowse link
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
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
Keratosis Palmoplantaris Striata 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col20a1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse ClinVar PMID:29934816 NCBI chrNW_004955528:847,416...878,741 JBrowse link
G Dsg1 desmoglein 1 ISO OMIM NCBI chrNW_004955402:18,668,717...18,704,329
Ensembl chrNW_004955402:18,668,196...18,700,630
JBrowse link
Keratosis Palmoplantaris Striata 2 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
Keratosis Palmoplantaris Striata 3 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
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO OMIM NCBI chrNW_004955414:5,062,355...5,092,631
Ensembl chrNW_004955414:5,062,355...5,092,154
JBrowse link
mal de Meleda term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slurp1 secreted LY6/PLAUR domain containing 1 ISO OMIM NCBI chrNW_004955454:1,440,534...1,449,123
Ensembl chrNW_004955454:1,447,437...1,449,299
Ensembl chrNW_004955454:1,447,437...1,449,299
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
Olmsted Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Perp p53 apoptosis effector related to PMP22 ISO OMIM NCBI chrNW_004955436:21,425,321...21,430,780
Ensembl chrNW_004955436:21,417,332...21,431,312
JBrowse link
Palmoplantar Hyperkeratosis and True Hermaphroditism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism ClinVar PMID:18085567 NCBI chrNW_004955452:15,415,417...15,435,616
Ensembl chrNW_004955452:15,415,932...15,435,656
JBrowse link
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO OMIM NCBI chrNW_004955452:15,415,417...15,435,616
Ensembl chrNW_004955452:15,415,932...15,435,656
JBrowse link
palmoplantar keratoderma and congenital alopecia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein alpha 1 ISO OMIM NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
JBrowse link
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kank2 KN motif and ankyrin repeat domains 2 ISO OMIM NCBI chrNW_004955495:2,168,992...2,173,581 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
palmoplantar keratoderma-deafness syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma ClinVar PMID:25741868 NCBI chrNW_004955402:18,668,717...18,704,329
Ensembl chrNW_004955402:18,668,196...18,700,630
JBrowse link
G Gjb2 gap junction protein beta 2 ISO OMIM NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
palmoplantar keratoderma-esophageal carcinoma syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhbdf2 rhomboid 5 homolog 2 ISO OMIM NCBI chrNW_004955506:5,805,415...5,828,286
Ensembl chrNW_004955506:5,805,361...5,828,460
JBrowse link
Papillon-Lefevre disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO OMIM NCBI chrNW_004955414:5,062,355...5,092,631
Ensembl chrNW_004955414:5,062,355...5,092,154
JBrowse link
punctate palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Punctate palmoplantar hyperkeratosis ClinVar PMID:25741868 NCBI chrNW_004955545:1,078,319...1,106,938
Ensembl chrNW_004955545:1,078,319...1,106,938
JBrowse link
punctate palmoplantar keratoderma type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aagab alpha and gamma adaptin binding protein ISO OMIM NCBI chrNW_004955450:8,694,829...8,742,816
Ensembl chrNW_004955450:8,694,892...8,741,701
JBrowse link
punctate palmoplantar keratoderma type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Punctate palmoplantar keratoderma type 2 ClinVar PMID:7894492 PMID:8644703 PMID:8833256 PMID:8841191 PMID:9042909 More... NCBI chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO OMIM NCBI chrNW_004955453:14,528,373...14,540,801
Ensembl chrNW_004955453:14,528,153...14,540,818
JBrowse link
Vohwinkel syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO OMIM NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps2 membrane bound transcription factor peptidase, site 2 ISO OMIM NCBI chrNW_004955509:2,185,054...2,222,497
Ensembl chrNW_004955509:2,184,522...2,222,505
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12744
    sensory system disease 4857
      skin disease 2548
        keratosis 122
          palmoplantar keratosis 27
            Alopecia Congenita Keratosis Palmoplantaris + 1
            Bart-Pumphrey syndrome 1
            Basaran Yilmaz Syndrome 1
            CEDNIK syndrome 1
            Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 1
            Cole Disease 1
            Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
            Corneodermatoosseous Syndrome 0
            Diffuse Palmoplantar Keratoderma + 8
            Fitzsimmons-McLachlan-Gilbert syndrome 0
            Focal Palmoplantar and Gingival Keratosis 0
            Hyperkeratosis-Hyperpigmentation Syndrome 0
            Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 0
            Judge Misch Wright Syndrome 0
            Keratoderma Palmoplantaris Transgrediens 0
            Keratosis Palmaris et Plantaris with Clinodactyly 0
            Keratosis Palmoplantaris Striata 1 2
            Keratosis Palmoplantaris Striata 2 1
            Keratosis Palmoplantaris Striata 3 1
            Naegeli-Franceschetti-Jadassohn syndrome 0
            PALMOPLANTAR KERATODERMA AND WOOLLY HAIR + 2
            Palmoplantar Hyperkeratosis and True Hermaphroditism 1
            Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
            Palmoplantar Keratoderma, Nagashima Type 1
            Palmoplantar Keratoderma, Norrbotten Recessive Type 0
            Palmoplantar Keratoderma, Spastic Paralysis 0
            Papillon-Lefevre disease + 1
            Patel Bixler Syndrome 0
            Porokeratosis 2, Palmar, Plantar, and Disseminated Type 0
            Powell Venencie Gordon syndrome 0
            Schopf-Schulz-Passarge syndrome 1
            Stern Lubinsky Durrie Syndrome 0
            Vohwinkel syndrome 1
            mal de Meleda 1
            mutilating palmoplantar keratoderma with periorificial keratotic plaques + 4
            nonepidermolytic palmoplantar keratoderma + 6
            palmoplantar keratoderma-deafness syndrome 2
            palmoplantar keratoderma-esophageal carcinoma syndrome 1
            punctate palmoplantar keratoderma + 3
Path 2
Term Annotations click to browse term
  disease 12744
    disease of anatomical entity 12425
      nervous system disease 10321
        sensory system disease 4857
          skin disease 2548
            keratosis 122
              palmoplantar keratosis 27
                Alopecia Congenita Keratosis Palmoplantaris + 1
                Bart-Pumphrey syndrome 1
                Basaran Yilmaz Syndrome 1
                CEDNIK syndrome 1
                Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 1
                Cole Disease 1
                Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
                Corneodermatoosseous Syndrome 0
                Diffuse Palmoplantar Keratoderma + 8
                Fitzsimmons-McLachlan-Gilbert syndrome 0
                Focal Palmoplantar and Gingival Keratosis 0
                Hyperkeratosis-Hyperpigmentation Syndrome 0
                Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 0
                Judge Misch Wright Syndrome 0
                Keratoderma Palmoplantaris Transgrediens 0
                Keratosis Palmaris et Plantaris with Clinodactyly 0
                Keratosis Palmoplantaris Striata 1 2
                Keratosis Palmoplantaris Striata 2 1
                Keratosis Palmoplantaris Striata 3 1
                Naegeli-Franceschetti-Jadassohn syndrome 0
                PALMOPLANTAR KERATODERMA AND WOOLLY HAIR + 2
                Palmoplantar Hyperkeratosis and True Hermaphroditism 1
                Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
                Palmoplantar Keratoderma, Nagashima Type 1
                Palmoplantar Keratoderma, Norrbotten Recessive Type 0
                Palmoplantar Keratoderma, Spastic Paralysis 0
                Papillon-Lefevre disease + 1
                Patel Bixler Syndrome 0
                Porokeratosis 2, Palmar, Plantar, and Disseminated Type 0
                Powell Venencie Gordon syndrome 0
                Schopf-Schulz-Passarge syndrome 1
                Stern Lubinsky Durrie Syndrome 0
                Vohwinkel syndrome 1
                mal de Meleda 1
                mutilating palmoplantar keratoderma with periorificial keratotic plaques + 4
                nonepidermolytic palmoplantar keratoderma + 6
                palmoplantar keratoderma-deafness syndrome 2
                palmoplantar keratoderma-esophageal carcinoma syndrome 1
                punctate palmoplantar keratoderma + 3
paths to the root