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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.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
palmoplantar keratosis term browser
Symbol Object Name Qualifiers 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 ClinVar 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 More... 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:7516304 PMID:7523529 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 Tuft1 tuftelin 1 ISO MouseDO NCBI chrNW_004955589:817,001...854,492
Ensembl chrNW_004955589:817,001...854,492 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:24449199 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 Qualifiers 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 ClinVar Annotator: match by term: Olmsted syndrome 1 OMIM
ClinVar		 PMID:22405088 PMID:24452206 PMID:25741868 PMID:27273692 PMID:28492532 More... 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 Qualifiers 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 OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099 		JBrowse link
Basaran Yilmaz Syndrome term browser
Symbol Object Name Qualifiers 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 Qualifiers 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:27255181 PMID:28492532 More... 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 Qualifiers 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 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp6 bone morphogenetic protein 6 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chrNW_004955465:6,053,600...6,201,254
Ensembl chrNW_004955465:6,054,931...6,200,377 		JBrowse link
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 OMIM
ClinVar		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207 		JBrowse link
G Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chrNW_004955465:6,339,362...6,353,563
Ensembl chrNW_004955465:6,336,209...6,353,569 		JBrowse link
CEDNIK syndrome term browser
Symbol Object Name Qualifiers 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 chrNW_004955442:19,446,955...19,594,790
Ensembl chrNW_004955442:19,446,955...19,598,725 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: CEDNIK syndrome | ClinVar Annotator: match by term: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome OMIM
ClinVar		 PMID:15968592 PMID:19350501 PMID:19896110 PMID:21073448 PMID:23185475 More... 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 susceptibility ISO ClinVar Annotator: match by term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION ClinVar
OMIM		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... 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 Qualifiers 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 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 Qualifiers 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 Qualifiers 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:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 More... 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt9 keratin 9 ISO ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma | ClinVar Annotator: match by term: Localized epidermolytic hyperkeratosis ClinVar PMID:152116 PMID:1385292 PMID:2531643 PMID:2960371 PMID:7511021 More... NCBI chrNW_004955451:15,890,101...15,896,282
Ensembl chrNW_004955451:15,890,343...15,896,282 		JBrowse link
Epidermolytic Palmoplantar Keratoderma 1 term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004955451:15,890,101...15,896,282
Ensembl chrNW_004955451:15,890,343...15,896,282 		JBrowse link
Epidermolytic Palmoplantar Keratoderma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic, 2 OMIM
ClinVar		 PMID:11286630 PMID:16227096 PMID:25741868 PMID:28492532 PMID:33081034 More... NCBI chrNW_004955458:25,193...29,282
Ensembl chrNW_004955458:25,187...29,208 		JBrowse link
focal nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma 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 ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma ClinVar PMID:9536098 PMID:17576681 PMID:21285946 PMID:24452206 PMID:25285920 More... NCBI chrNW_004955467:13,246,099...13,276,741
Ensembl chrNW_004955467:13,248,599...13,276,718 		JBrowse link
focal nonepidermolytic palmoplantar keratoderma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:25741868 PMID:28492532 NCBI chrNW_004955467:13,246,099...13,276,741
Ensembl chrNW_004955467:13,248,599...13,276,718 		JBrowse link
inflammatory poikiloderma with hair abnormalities and acral keratoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltv1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Inflammatory poikiloderma with hair abnormalities and acral keratoses OMIM
ClinVar		 PMID:34999892 NCBI chrNW_004955436:16,580,412...16,593,093
Ensembl chrNW_004955436:16,580,704...16,592,044 		JBrowse link
Keratoderma Palmoplantaris Transgrediens term browser
Symbol Object Name Qualifiers 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:26467025 More... NCBI chrNW_004955452:12,892,687...12,896,290
Ensembl chrNW_004955452:12,892,687...12,896,290 		JBrowse link
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chrNW_004955455:10,694,102...10,717,613
Ensembl chrNW_004955455:10,694,102...10,717,613 		JBrowse link
G LOC102004559 chromosome unknown open reading frame, human C12orf43 ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chrNW_004955455:10,684,757...10,693,511
Ensembl chrNW_004955455:10,684,750...10,692,913 		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:25741868 PMID:28017832 NCBI chrNW_004955416:15,049,849...15,071,108
Ensembl chrNW_004955416:15,048,106...15,071,102 		JBrowse link
keratosis palmoplantaris striata 1 term browser
Symbol Object Name Qualifiers 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 ClinVar Annotator: match by term: DSG1-related condition | ClinVar Annotator: match by term: Keratoderma, palmoplantar striate form 1 | ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse OMIM
ClinVar		 PMID:7544663 PMID:10332028 PMID:11122035 PMID:11313759 PMID:15897387 More... 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 Qualifiers 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 OMIM
ClinVar		 PMID:3198322 PMID:9536098 PMID:9887343 PMID:10594734 PMID:12101406 More... 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 Qualifiers 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		 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome OMIM
ClinVar		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chrNW_004955414:5,062,355...5,092,631
Ensembl chrNW_004955414:5,062,355...5,092,154 		JBrowse link
G Grm5 glutamate metabotropic receptor 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chrNW_004955414:4,424,245...4,919,399 JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chrNW_004955414:4,244,035...4,314,001
Ensembl chrNW_004955414:4,244,035...4,314,001 		JBrowse link
mal de Meleda term browser
Symbol Object Name Qualifiers 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 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 Qualifiers 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
ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR		 OMIM
ClinVar		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 More... 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Diffuse nonepidermolytic palmoplantar keratoderma | ClinVar Annotator: match by term: Nonepidermolytic palmoplantar hyperkeratosis OMIM
ClinVar		 PMID:19470048 PMID:25741868 PMID:28492532 NCBI chrNW_004955458:25,193...29,282
Ensembl chrNW_004955458:25,187...29,208 		JBrowse link
Olmsted Syndrome 2 term browser
Symbol Object Name Qualifiers 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 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 Qualifiers 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 Qualifiers 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 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 Qualifiers 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:12457340 PMID:15879313 PMID:25168385 PMID:25327171 PMID:25741868 More... 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair | ClinVar Annotator: match by term: Skin fragility woolly hair syndrome
ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome		 ClinVar PMID:2450378 PMID:3198322 PMID:9229116 PMID:9536098 PMID:10395892 More... NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207 		JBrowse link
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 chrNW_004955495:2,168,992...2,173,581 JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome ClinVar PMID:36689522 NCBI chrNW_004955589:817,001...854,492
Ensembl chrNW_004955589:817,001...854,492 		JBrowse link
Palmoplantar Keratoderma, Nagashima Type term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: SERPINB7-related condition OMIM
ClinVar		 PMID:24207119 PMID:24514002 PMID:24773080 PMID:25741868 PMID:27543371 More... NCBI chrNW_004955402:47,599,503...47,649,537
Ensembl chrNW_004955402:47,599,150...47,649,885 		JBrowse link
Palmoplantar Keratoderma, Norrbotten Recessive Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpina12 serpin family A member 12 ISO ClinVar Annotator: match by term: Keratoderma, palmoplantar, Norrbotten recessive type ClinVar PMID:32247861 NCBI chrNW_004955438:17,826,596...17,849,341
Ensembl chrNW_004955438:17,833,919...17,849,393 		JBrowse link
Palmoplantar Keratoderma, Vorner Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt9 keratin 9 ISO ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma Vorner type ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955451:15,890,101...15,896,282
Ensembl chrNW_004955451:15,890,343...15,896,282 		JBrowse link
palmoplantar keratoderma-deafness syndrome term browser
Symbol Object Name Qualifiers 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 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 OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhbdf2 rhomboid 5 homolog 2 ISO ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER | ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome | ClinVar Annotator: match by term: Tylosis with esophageal cancer OMIM
ClinVar		 PMID:8508402 PMID:13209063 PMID:22265016 PMID:22638770 PMID:25741868 More... 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO ClinVar Annotator: match by term: Keratosis palmoplantaris with periodontopathia | ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome OMIM
ClinVar		 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 More... NCBI chrNW_004955414:5,062,355...5,092,631
Ensembl chrNW_004955414:5,062,355...5,092,154 		JBrowse link
punctate palmoplantar keratoderma type I term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23000146 PMID:23064416 PMID:23563198 More... 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 Qualifiers 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:7545954 PMID:7894492 PMID:8531967 PMID:8644703 PMID:8833256 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 Qualifiers 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 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 Qualifiers 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 OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... 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 Qualifiers 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 PMID:28492532 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 16063
    sensory system disease 6162
      skin disease 3500
        keratosis 166
          palmoplantar keratosis 38
            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
            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 0
            PALMOPLANTAR KERATODERMA AND WOOLLY HAIR + 5
            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 1
            Palmoplantar Keratoderma, Spastic Paralysis 0
            Papillon-Lefevre disease + 3
            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
            inflammatory poikiloderma with hair abnormalities and acral keratoses 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 2
            palmoplantar keratoderma-esophageal carcinoma syndrome 1
            punctate palmoplantar keratoderma + 2
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6162
            skin disease 3500
              Genetic Skin Diseases 1695
                palmoplantar keratosis 38
                  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
                  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 0
                  PALMOPLANTAR KERATODERMA AND WOOLLY HAIR + 5
                  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 1
                  Palmoplantar Keratoderma, Spastic Paralysis 0
                  Papillon-Lefevre disease + 3
                  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
                  inflammatory poikiloderma with hair abnormalities and acral keratoses 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 2
                  palmoplantar keratoderma-esophageal carcinoma syndrome 1
                  punctate palmoplantar keratoderma + 2
paths to the root