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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
 narrow_synonym: Unna-Thost disease;   Unna-Thost keratoderma;   Unna-Thost syndrome
 primary_id: MESH:D007645
 alt_id: OMIA:001327
 xref: EFO:1000745;   GARD:8167;   ICD10CM:L85.2;   NCI:C34748
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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 chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900
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 More... NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019
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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Jup junction plakoglobin ISO Naxos disease, OMIM:601214 RGD PMID:10902626 RGD:1600286 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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 chr10:85,120,962...85,127,228
Ensembl chr10:85,122,424...85,127,228
JBrowse link
G Sash1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:25315659 NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870
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
CTD
RGD
PMID:25168896 PMID:11285253 RGD:1599051 NCBI chr 7:106,611,949...106,613,365
Ensembl chr 7:106,611,949...106,613,365
JBrowse link
G Slurp2 secreted Ly6/Plaur domain containing 2 ISS MouseDO NCBI chr 7:106,627,775...106,631,655
Ensembl chr 7:106,627,775...106,631,655
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:28492532 NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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 chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: Olmsted syndrome 1 OMIM
ClinVar
PMID:22405088 PMID:24452206 PMID:25741868 PMID:28492532 NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
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 ClinVar Annotator: match by term: Bart-Pumphrey syndrome | ClinVar Annotator: match by term: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
DNA:mutation:cds:p.N54K(human)
OMIM
ClinVar
RGD
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:7364821 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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 OMIM
ClinVar
PMID:7531539 PMID:23830519 PMID:25741868 PMID:34298581 NCBI chr 7:130,722,675...130,726,207
Ensembl chr 7:130,721,748...130,726,209
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 ClinVar Annotator: match by term: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA OMIM
ClinVar
PMID:25315659 PMID:25741868 NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO 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 | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8769422 PMID:9229116 PMID:9536098 PMID:10594734 PMID:11063735 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
CEDNIK syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: CEDNIK syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080
JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: CEDNIK syndrome OMIM
ClinVar
PMID:15968592 PMID:19350501 PMID:19896110 PMID:21073448 PMID:23185475 More... NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
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 ClinVar Annotator: match by term: Cole disease OMIM
ClinVar
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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 ClinVar Annotator: match by term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | ClinVar Annotator: match by term: SAM SYNDROME OMIM
ClinVar
PMID:23974871 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
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 chr10:85,120,962...85,127,228
Ensembl chr10:85,122,424...85,127,228
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 OMIM
ClinVar
PMID:9536098 PMID:15941723 PMID:16175511 PMID:16199547 PMID:16628197 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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 term: Epidermolytic palmoplantar keratoderma OMIM
ClinVar
PMID:11286630 NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
JBrowse link
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,168,357...85,171,744
Ensembl chr10:85,066,802...85,171,799
JBrowse link
G Krt9 keratin 9 ISO ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma OMIM
ClinVar
PMID:152116 PMID:1385292 PMID:2531643 PMID:2960371 PMID:7511021 More... NCBI chr10:85,120,962...85,127,228
Ensembl chr10:85,122,424...85,127,228
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 chr10:85,120,962...85,127,228
Ensembl chr10:85,122,424...85,127,228
JBrowse link
focal nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC683313 similar to keratin complex 2, basic, gene 6a ISO ClinVar Annotator: match by term: Focal palmoplantar keratoderma ClinVar PMID:19609311 NCBI chr 7:132,799,608...132,804,045
Ensembl chr 7:132,799,616...132,804,045
JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma ClinVar NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma ClinVar PMID:21285946 PMID:24452206 PMID:25285920 PMID:25741868 PMID:28492532 NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
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:24491404 PMID:25741868 PMID:28492532 More... NCBI chr10:85,168,357...85,171,744
Ensembl chr10:85,066,802...85,171,799
JBrowse link
focal nonepidermolytic palmoplantar keratoderma 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO OMIM NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
JBrowse link
focal or diffuse nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC683313 similar to keratin complex 2, basic, gene 6a ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal or diffuse OMIM
ClinVar
PMID:19609311 PMID:23662636 PMID:25741868 PMID:28492532 NCBI chr 7:132,799,608...132,804,045
Ensembl chr 7:132,799,616...132,804,045
JBrowse link
Keratoderma Palmoplantaris Transgrediens term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS ClinVar PMID:9843210 PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:139,649,227...139,655,083
Ensembl chr 5:139,649,195...139,654,980
JBrowse link
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12h12orf43 similar to human chromosome 12 open reading frame 43 ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr12:41,672,114...41,677,722
Ensembl chr12:41,672,114...41,677,714
JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive OMIM
ClinVar
PMID:28017832 NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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 chr 3:168,102,475...168,134,759
Ensembl chr 3:168,084,560...168,135,309
JBrowse link
G Dsg1 desmoglein 1 ISO DNA:snp:intron:IVS2-1G>A (human)
ClinVar Annotator: match by term: Keratoderma, palmoplantar striate form 1 | ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse
ClinVar
OMIM
RGD
PMID:7544663 PMID:10332028 PMID:11313759 PMID:15897387 PMID:16484817 More... RGD:1598781 NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
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 ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata II | ClinVar Annotator: match by term: STRIATE PALMOPLANTAR KERATODERMA II OMIM
ClinVar
PMID:9536098 PMID:9887343 PMID:10594734 PMID:15941723 PMID:16175511 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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 ClinVar Annotator: match by term: Keratosis palmoplantaris striata 3 OMIM
ClinVar
PMID:11286616 PMID:11982762 NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Haim-Munk syndrome
OMIM
CTD
ClinVar
PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 More... NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387
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 ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS | ClinVar Annotator: match by term: Meleda Disease OMIM
ClinVar
PMID:9887370 PMID:11285253 PMID:12483299 PMID:12535203 PMID:12603845 More... NCBI chr 7:106,611,949...106,613,365
Ensembl chr 7:106,611,949...106,613,365
JBrowse link
Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Naegeli-Franceschetti-Jadassohn syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8496458 PMID:13141721 PMID:16960809 NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
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: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease OMIM
ClinVar
PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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 ClinVar Annotator: match by term: Diffuse nonepidermolytic palmoplantar keratoderma OMIM
ClinVar
PMID:7528239 PMID:12406346 PMID:19470048 PMID:25741868 PMID:28492532 NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
JBrowse link
G Krt16 keratin 16 ISS OMIM:600962 | OMIM:613000 | OMIM:615735 MouseDO NCBI chr10:85,168,357...85,171,744
Ensembl chr10:85,066,802...85,171,799
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 ClinVar Annotator: match by term: Olmsted syndrome 2 OMIM
ClinVar
PMID:30321533 PMID:31361044 NCBI chr 1:13,542,067...13,554,514
Ensembl chr 1:13,542,067...13,554,511
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 chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
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 ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal OMIM
ClinVar
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
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 ClinVar Annotator: match by term: Autosomal dominant palmoplantar keratoderma and congenital alopecia OMIM
ClinVar
PMID:25168385 PMID:25741868 PMID:28492532 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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 ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair OMIM
ClinVar
PMID:24671081 PMID:25741868 PMID:28492532 NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900
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 ClinVar Annotator: match by term: Palmoplantar keratoderma, Nagashima type OMIM
ClinVar
PMID:24207119 PMID:24514002 PMID:24773080 PMID:25741868 PMID:28492532 NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205
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 chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome
DNA:missense mutation:cds:p.G130V(human)
DNA:misense mutation:cds:c.224G>A (p.R75Q)(human)
DNA:mutation:cds:p.H73R(human)
DNA:missense mutation:cds:p.S183F(human)
OMIM
ClinVar
RGD
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... RGD:11097846, RGD:11568636, RGD:7364819, RGD:7364814 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome ClinVar PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 More... NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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 ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome OMIM
ClinVar
PMID:8508402 PMID:13209063 PMID:22265016 PMID:22638770 PMID:25741868 More... NCBI chr10:101,833,157...101,860,283
Ensembl chr10:101,833,157...101,860,283
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 DNA:nonsense mutation, deletion, substitution: ;856C>T,2692delA,2931G>A
ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11180012 More... RGD:1599638 NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387
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 ClinVar Annotator: match by term: Palmoplantar keratoderma, punctate type 1A
DNA:mutations:cds:
OMIM
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:23000146 PMID:23064416 PMID:23563198 More... RGD:9681734 NCBI chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900
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:8531967 PMID:8644703 PMID:8833256 PMID:8841191 More... NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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 ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome OMIM
ClinVar
PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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 ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma
DNA:mutation:cds:p.D66H(human)
OMIM
ClinVar
RGD
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:11568635, RGD:7364824 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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 ClinVar Annotator: match by term: Olmsted syndrome, X-linked OMIM
ClinVar
PMID:17367233 PMID:22931912 PMID:25741868 NCBI chr  X:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    sensory system disease 6575
      skin disease 3880
        keratosis 152
          palmoplantar keratosis 36
            Alopecia Congenita Keratosis Palmoplantaris + 1
            Bart-Pumphrey syndrome 1
            Basaran Yilmaz Syndrome 1
            CEDNIK syndrome 2
            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 + 10
            Fitzsimmons-McLachlan-Gilbert syndrome 0
            Focal Palmoplantar and Gingival Keratosis 0
            Hyperkeratosis-Hyperpigmentation Syndrome 0
            Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 0
            Inflammatory Poikiloderma with Hair Abnormalities and Acral Keratoses 0
            Judge Misch Wright Syndrome 0
            Keratoderma Palmoplantaris Transgrediens 1
            Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive 3
            Keratosis Palmaris et Plantaris with Clinodactyly 0
            Naegeli-Franceschetti-Jadassohn syndrome 1
            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
            keratosis palmoplantaris striata + 4
            mal de Meleda 1
            mutilating palmoplantar keratoderma with periorificial keratotic plaques + 4
            nonepidermolytic palmoplantar keratoderma + 8
            palmoplantar keratoderma-deafness syndrome 3
            palmoplantar keratoderma-esophageal carcinoma syndrome 1
            punctate palmoplantar keratoderma + 2
Path 2
Term Annotations click to browse term
  disease 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            skin disease 3880
              Genetic Skin Diseases 1583
                palmoplantar keratosis 36
                  Alopecia Congenita Keratosis Palmoplantaris + 1
                  Bart-Pumphrey syndrome 1
                  Basaran Yilmaz Syndrome 1
                  CEDNIK syndrome 2
                  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 + 10
                  Fitzsimmons-McLachlan-Gilbert syndrome 0
                  Focal Palmoplantar and Gingival Keratosis 0
                  Hyperkeratosis-Hyperpigmentation Syndrome 0
                  Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 0
                  Inflammatory Poikiloderma with Hair Abnormalities and Acral Keratoses 0
                  Judge Misch Wright Syndrome 0
                  Keratoderma Palmoplantaris Transgrediens 1
                  Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive 3
                  Keratosis Palmaris et Plantaris with Clinodactyly 0
                  Naegeli-Franceschetti-Jadassohn syndrome 1
                  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
                  keratosis palmoplantaris striata + 4
                  mal de Meleda 1
                  mutilating palmoplantar keratoderma with periorificial keratotic plaques + 4
                  nonepidermolytic palmoplantar keratoderma + 8
                  palmoplantar keratoderma-deafness syndrome 3
                  palmoplantar keratoderma-esophageal carcinoma syndrome 1
                  punctate palmoplantar keratoderma + 2
paths to the root