ONTOLOGY REPORT - ANNOTATIONS


Term:palmoplantar keratosis
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Accession:DOID:3390 term browser browse the term
Definition:Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).
Synonyms:exact_synonym: Hyperkeratosis Palmaris et Plantaris;   Keratosis Palmaris et Plantaris;   Palmoplantar Keratoderma;   Palmoplantar Keratodermas;   Palmoplantar Keratoses
 primary_id: MESH:D007645
 alt_id: OMIA:001327;   OMIM:248300;   RDO:0000793
 xref: GARD:8167
For additional species annotation, visit the Alliance of Genome Resources.


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palmoplantar keratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aagab alpha- and gamma-adaptin binding protein JBrowse link 8 68,526,063 68,564,604 RGD:11554173
RGD:8554872
G Dsg1 desmoglein 1 JBrowse link 18 12,008,301 12,040,337 RGD:8554872
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:12910125
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:11554173
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:1600286
G Krt9 keratin 9 JBrowse link 10 88,102,519 88,107,232 RGD:8554872
G Sash1 SAM and SH3 domain containing 1 JBrowse link 1 2,782,905 2,950,749 RGD:8554872
G Slurp1 secreted Ly6/Plaur domain containing 1 JBrowse link 7 115,961,655 115,963,071 RGD:1599051
RGD:11554173
RGD:7240710
G Slurp2 secreted LY6/PLAUR domain containing 2 JBrowse link 7 115,977,854 115,981,734 RGD:13592920
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:8554872
Alopecia Congenita Keratosis Palmoplantaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
Bart-Pumphrey syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
RGD:7364821
Basaran Yilmaz Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:11554173
CEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snap29 synaptosome associated protein 29 JBrowse link 11 87,827,633 87,858,107 RGD:7240710
RGD:8554872
Cole Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:7240710
RGD:8554872
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg1 desmoglein 1 JBrowse link 18 12,008,301 12,040,337 RGD:7240710
RGD:8554872
Diffuse Palmoplantar Keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt9 keratin 9 JBrowse link 10 88,102,519 88,107,232 RGD:1600065
Diffuse Palmoplantar Keratoderma, Bothnian Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp5 aquaporin 5 JBrowse link 7 141,249,044 141,252,576 RGD:7240710
RGD:8554872
dilated cardiomyopathy with woolly hair and keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
RGD:11554173
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
epidermolytic palmoplantar keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:7240710
RGD:8554872
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:8554872
G Krt9 keratin 9 JBrowse link 10 88,102,519 88,107,232 RGD:7240710
RGD:8554872
Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt9 keratin 9 JBrowse link 10 88,102,519 88,107,232 RGD:8554872
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kb15 type II keratin Kb15 JBrowse link 7 143,208,034 143,217,771 RGD:8554872
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:8554872
Keratosis Palmoplantaris Striata 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg1 desmoglein 1 JBrowse link 18 12,008,301 12,040,337 RGD:1598781
RGD:8554872
RGD:7240710
Keratosis Palmoplantaris Striata 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
Keratosis Palmoplantaris Striata 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:7240710
RGD:8554872
Keratosis Palmoplantaris with Esophageal Cancer term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rhbdf2 rhomboid 5 homolog 2 JBrowse link 10 105,573,759 105,600,885 RGD:7240710
RGD:8554872
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsc cathepsin C JBrowse link 1 151,918,514 151,949,979 RGD:7240710
RGD:8554872
RGD:11554173
mal de Meleda term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slurp1 secreted Ly6/Plaur domain containing 1 JBrowse link 7 115,961,655 115,963,071 RGD:8554872
RGD:13592920
Naegeli Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:7240710
RGD:8554872
RGD:11554173
Naxos Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:7240710
RGD:8554872
nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kb15 type II keratin Kb15 JBrowse link 7 143,208,034 143,217,771 RGD:13592920
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:7240710
RGD:8554872
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:13592920
G Rhbdf2 rhomboid 5 homolog 2 JBrowse link 10 105,573,759 105,600,885 RGD:13592920
Nonepidermolytic Palmoplantar Keratoderma, Focal 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kb15 type II keratin Kb15 JBrowse link 7 143,208,034 143,217,771 RGD:8554872
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:7240710
RGD:8554872
Nonepidermolytic Palmoplantar Keratoderma, Focal 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 JBrowse link 10 59,829,755 59,863,780 RGD:7240710
RGD:8554872
Nonepidermolytic Palmoplantar Keratoderma, Focal or Diffuse term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kb15 type II keratin Kb15 JBrowse link 7 143,208,034 143,217,771 RGD:7240710
RGD:8554872
Palmoplantar Hyperkeratosis and True Hermaphroditism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rspo1 R-spondin 1 JBrowse link 5 142,986,526 143,007,847 RGD:8554872
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rspo1 R-spondin 1 JBrowse link 5 142,986,526 143,007,847 RGD:8554872
RGD:7240710
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kank2 KN motif and ankyrin repeat domains 2 JBrowse link 8 22,792,000 22,821,459 RGD:7240710
RGD:8554872
Palmoplantar Keratoderma with Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
RGD:11097846
RGD:11568636
RGD:7364819
RGD:7364814
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spata22 spermatogenesis associated 22 JBrowse link 10 59,893,064 59,910,769 RGD:8554872
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 JBrowse link 10 59,829,755 59,863,780 RGD:7240710
RGD:8554872
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbtps2 membrane-bound transcription factor peptidase, site 2 JBrowse link X 40,258,933 40,309,047 RGD:7240710
RGD:8554872
Palmoplantar Keratoderma, Nagashima Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinb7 serpin family B member 7 JBrowse link 13 27,282,456 27,354,775 RGD:7240710
RGD:8554872
Papillon-Lefevre disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsc cathepsin C JBrowse link 1 151,918,514 151,949,979 RGD:1599638
RGD:8554872
RGD:11554173
RGD:7240710
Porokeratosis 2, Palmar, Plantar, and Disseminated Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
punctate palmoplantar keratoderma type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aagab alpha- and gamma-adaptin binding protein JBrowse link 8 68,526,063 68,564,604 RGD:7240710
RGD:9681734
RGD:8554872
punctate palmoplantar keratoderma type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
Schopf-Schulz-Passarge Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:7240710
RGD:8554872
Vohwinkel Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
RGD:11568635
RGD:7364824

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        keratosis 125
          palmoplantar keratosis 28
            Alopecia Congenita Keratosis Palmoplantaris + 1
            Bart-Pumphrey syndrome 1
            Basaran Yilmaz Syndrome 1
            CEDNIK syndrome 1
            Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 0
            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
            Hyperkeratosis-Hyperpigmentation Syndrome 0
            Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 0
            Judge Misch Wright Syndrome 0
            Keratoderma Palmoplantaris Transgrediens 0
            Keratosis Focal Palmoplantar Gingival 0
            Keratosis Palmaris et Plantaris with Clinodactyly 0
            Keratosis Palmoplantaris Striata 1 1
            Keratosis Palmoplantaris Striata 2 1
            Keratosis Palmoplantaris Striata 3 1
            Keratosis Palmoplantaris with Esophageal Cancer 1
            Naegeli Syndrome 1
            Naxos Disease 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 with Deafness 2
            Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques + 3
            Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked 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 1
            Powell Venencie Gordon syndrome 0
            Schopf-Schulz-Passarge Syndrome 1
            Stern Lubinsky Durrie Syndrome 0
            Vohwinkel Syndrome 1
            dilated cardiomyopathy with woolly hair and keratoderma + 1
            mal de Meleda 1
            nonepidermolytic palmoplantar keratoderma + 5
            punctate palmoplantar keratoderma + 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            keratosis 125
              palmoplantar keratosis 28
                Alopecia Congenita Keratosis Palmoplantaris + 1
                Bart-Pumphrey syndrome 1
                Basaran Yilmaz Syndrome 1
                CEDNIK syndrome 1
                Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 0
                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
                Hyperkeratosis-Hyperpigmentation Syndrome 0
                Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 0
                Judge Misch Wright Syndrome 0
                Keratoderma Palmoplantaris Transgrediens 0
                Keratosis Focal Palmoplantar Gingival 0
                Keratosis Palmaris et Plantaris with Clinodactyly 0
                Keratosis Palmoplantaris Striata 1 1
                Keratosis Palmoplantaris Striata 2 1
                Keratosis Palmoplantaris Striata 3 1
                Keratosis Palmoplantaris with Esophageal Cancer 1
                Naegeli Syndrome 1
                Naxos Disease 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 with Deafness 2
                Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques + 3
                Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked 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 1
                Powell Venencie Gordon syndrome 0
                Schopf-Schulz-Passarge Syndrome 1
                Stern Lubinsky Durrie Syndrome 0
                Vohwinkel Syndrome 1
                dilated cardiomyopathy with woolly hair and keratoderma + 1
                mal de Meleda 1
                nonepidermolytic palmoplantar keratoderma + 5
                punctate palmoplantar keratoderma + 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.