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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Diffuse Palmoplantar Keratoderma
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Accession:DOID:9002223 term browser browse the term
Definition:An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one genotypically distinct form, each of which is clinically similar but histologically distinguishable. Diffuse palmoplantar keratoderma is distinct from palmoplantar keratoderma (KERATODERMA, PALMOPLANTAR), as the former exhibits autosomal dominant inheritance and hyperhidrosis is frequently present.
Synonyms:exact_synonym: Diffuse PPK;   Diffuse keratosis palmoplantaris;   Diffuse palmoplantar hyperkeratosis;   Keratosis Palmaris et Plantaris Familiaris;   Thost Unna Syndrome;   Tylosis
 primary_id: MESH:D015776
 xref: MONDO:0017666;   ORDO:307141

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Diffuse Palmoplantar Keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt9 keratin 9 ISO EPPK, OMIM:144200 RGD PMID:7512862 RGD:1600065 NCBI chrNW_004936490:16,477,991...16,481,797 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:27255181 PMID:28492532 More... NCBI chrNW_004936512:7,639,518...7,643,242
Ensembl chrNW_004936512:7,639,668...7,642,756 		JBrowse link
Carvajal syndrome term browser
Symbol Object Name 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_004936534:4,707,658...4,871,865
Ensembl chrNW_004936534:4,709,064...4,871,023 		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_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		JBrowse link
G Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chrNW_004936534:5,007,362...5,025,187
Ensembl chrNW_004936534:5,007,360...5,025,272 		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:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 More... NCBI chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		JBrowse link
epidermolytic palmoplantar keratoderma 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: 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_004936490:16,477,991...16,481,797 JBrowse link
Epidermolytic Palmoplantar Keratoderma 1 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004936490:16,477,991...16,481,797 JBrowse link
Epidermolytic Palmoplantar Keratoderma 2 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: Palmoplantar keratoderma, epidermolytic, 2 OMIM
ClinVar		 PMID:11286630 PMID:16227096 PMID:25741868 PMID:28492532 PMID:33081034 More... NCBI chrNW_004936512:10,084,764...10,090,312
Ensembl chrNW_004936512:10,084,763...10,090,414 		JBrowse link
focal nonepidermolytic palmoplantar keratoderma 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: Isolated focal non-epidermolytic palmoplantar keratoderma ClinVar NCBI chrNW_004936677:167,324...197,860
Ensembl chrNW_004936677:167,324...196,188 		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_004936677:239,133...270,512
Ensembl chrNW_004936677:239,435...270,512 		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 ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004936677:239,133...270,512
Ensembl chrNW_004936677:239,435...270,512 		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
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_004936490:16,671,176...16,694,552
Ensembl chrNW_004936490:16,668,575...16,694,615 		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 | ClinVar Annotator: match by term: Nonepidermolytic palmoplantar hyperkeratosis OMIM
ClinVar		 PMID:19470048 PMID:25741868 PMID:28492532 NCBI chrNW_004936512:10,084,764...10,090,312
Ensembl chrNW_004936512:10,084,763...10,090,414 		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 | ClinVar Annotator: match by term: SERPINB7-related condition OMIM
ClinVar		 PMID:24207119 PMID:24514002 PMID:24773080 PMID:25741868 PMID:27543371 More... NCBI chrNW_004936497:1,865,540...1,887,695
Ensembl chrNW_004936497:1,866,166...1,887,690 		JBrowse link
Palmoplantar Keratoderma, Vorner Type 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: Epidermolytic palmoplantar keratoderma Vorner type ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936490:16,477,991...16,481,797 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      skin disease 3576
        keratosis 171
          palmoplantar keratosis 40
            Diffuse Palmoplantar Keratoderma 10
              Beardwell Syndrome 0
              Palmoplantar Keratoderma, Nagashima Type 1
              epidermolytic palmoplantar keratoderma + 2
              nonepidermolytic palmoplantar keratoderma + 8
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6281
            skin disease 3576
              Genetic Skin Diseases 1737
                palmoplantar keratosis 40
                  Diffuse Palmoplantar Keratoderma 10
                    Beardwell Syndrome 0
                    Palmoplantar Keratoderma, Nagashima Type 1
                    epidermolytic palmoplantar keratoderma + 2
                    nonepidermolytic palmoplantar keratoderma + 8
paths to the root