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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:nonepidermolytic palmoplantar keratoderma
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Accession:DOID:0050428 term browser browse the term
Definition:A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. (DO)
Synonyms:exact_synonym: NEPPK;   NONEPIDERMOLYTIC PALMOPLANTAR HYPERKERATOSIS;   PPKNE;   Thost-Unna Syndrome;   Unna-Thost Syndrome
 narrow_synonym: diffuse nonepidermolytic palmomplantar keratoderma;   diffuse nonepidermolytic palmoplantar keratoderma;   diffuse orthohyperkeratotic keratoderma;   keratosis palmoplantaris diffusa circumscripta
 xref: EFO:1000743;   MESH:C563422


show annotations for term's descendants           Sort by:
nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse nonepidermolytic palmoplantar keratoderma | ClinVar Annotator: match by term: Nonepidermolytic palmoplantar hyperkeratosis		 CTD
ClinVar		 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...85,171,816
Ensembl chr10:85,066,802...85,171,799 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Palmoplantar keratoderma, Bothnian type		 OMIM
CTD
ClinVar		 PMID:7531539 PMID:23830519 PMID:25741868 PMID:27255181 PMID:28492532 More... NCBI chr 7:130,722,675...130,726,207
Ensembl chr 7:130,721,748...130,726,209 		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 chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Dsp desmoplakin ISO
ISS		 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:605676
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr17:26,596,266...26,616,058
Ensembl chr17:26,596,275...26,616,040 		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 chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
focal nonepidermolytic palmoplantar keratoderma 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 ClinVar PMID:8595410 PMID:16250206 PMID:22336941 PMID:24611874 PMID:25741868 More... NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Krt6c keratin 6c 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 PMID:25741868 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:9536098 PMID:17576681 PMID:21285946 PMID:24452206 PMID:25285920 More... 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:22336941 PMID:22668561 PMID:24491404 More... NCBI chr10:85,168,357...85,171,816
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 ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 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 Krt6c keratin 6c 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
KRT1-related 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 chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844 		JBrowse link
Nagashima-type palmoplantar keratosis 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 chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205 		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
CTD Direct Evidence: marker/mechanism
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
CTD		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:16722579 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
palmoplantar keratoderma and woolly hair term browser
Symbol Object Name 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: Woolly hair-skin fragility syndrome ClinVar PMID:2450378 PMID:3198322 PMID:9536098 PMID:10395892 PMID:12101406 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		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 chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900 		JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome ClinVar PMID:36689522 NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    sensory system disease 7336
      skin disease 4312
        keratosis 188
          palmoplantar keratosis 44
            nonepidermolytic palmoplantar keratoderma 13
              Bothnian type palmoplantar keratoderma 1
              KRT1-related nonepidermolytic palmoplantar keratoderma 1
              Nagashima-type palmoplantar keratosis 1
              Naxos disease + 4
              focal nonepidermolytic palmoplantar keratoderma + 4
              focal or diffuse nonepidermolytic palmoplantar keratoderma 1
              palmoplantar keratoderma and woolly hair + 5
Path 2
Term Annotations click to browse term
  disease 19106
    Pathological Conditions, Signs and Symptoms 13615
      Signs and Symptoms 11199
        Neurologic Manifestations 10433
          sensory system disease 7336
            skin disease 4312
              Genetic Skin Diseases 1881
                palmoplantar keratosis 44
                  nonepidermolytic palmoplantar keratoderma 13
                    Bothnian type palmoplantar keratoderma 1
                    KRT1-related nonepidermolytic palmoplantar keratoderma 1
                    Nagashima-type palmoplantar keratosis 1
                    Naxos disease + 4
                    focal nonepidermolytic palmoplantar keratoderma + 4
                    focal or diffuse nonepidermolytic palmoplantar keratoderma 1
                    palmoplantar keratoderma and woolly hair + 5
paths to the root