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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;   PPKNE;   Unna-Thost syndrome;   Unna–Thost disease;   Unna–Thost keratoderma;   diffuse nonepidermolytic palmomplantar keratoderma;   diffuse nonepidermolytic palmoplantar keratoderma;   diffuse orthohyperkeratotic keratoderma;   keratosis palmoplantaris diffusa circumscripta;   tylosis
 primary_id: MESH:C563422
 alt_id: OMIM:600962;   RDO:0012682
 xref: NCI:C3147;   ORDO:2337
For additional species annotation, visit the Alliance of Genome Resources.



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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
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
G Rhbdf2 rhomboid 5 homolog 2 ISS OMIM:600962 | OMIM:613000 | OMIM:615735 MouseDO NCBI chr10:101,833,157...101,860,283
Ensembl chr10:101,833,157...101,860,283
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
ClinVar Annotator: match by null
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
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: Dilated cardiomyopathy with woolly hair and keratoderma
ClinVar Annotator: match by term: Carvajal syndrome
ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy dilated with woolly hair and keratoderma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy, woolly hair, keratoderma
ClinVar Annotator: match by OMIM:605676
OMIM
ClinVar
CTD
PMID:8769422 PMID:9536098 PMID:10594734 PMID:11063735 PMID:11841538 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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 OMIM:615821
ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
OMIM
ClinVar
PMID:15941723 PMID:16628197 PMID:16774985 PMID:20716751 PMID:20940358 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 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
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:25741868 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 Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 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: Palmoplantar keratoderma, nonepidermolytic, focal 2 OMIM
ClinVar
PMID:21285946 PMID:24452206 PMID:25285920 PMID:25741868 PMID:28492532 More... 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
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: Naxos disease
ClinVar Annotator: match by OMIM:601214
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    sensory system disease 5700
      skin disease 3004
        Genetic Skin Diseases 1059
          palmoplantar keratosis 32
            nonepidermolytic palmoplantar keratoderma 9
              Bothnian type palmoplantar keratoderma 1
              Naxos disease + 2
              focal nonepidermolytic palmoplantar keratoderma + 4
              focal or diffuse nonepidermolytic palmoplantar keratoderma 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        sensory system disease 5700
          skin disease 3004
            keratosis 141
              palmoplantar keratosis 32
                Diffuse Palmoplantar Keratoderma 11
                  nonepidermolytic palmoplantar keratoderma 9
                    Bothnian type palmoplantar keratoderma 1
                    Naxos disease + 2
                    focal nonepidermolytic palmoplantar keratoderma + 4
                    focal or diffuse nonepidermolytic palmoplantar keratoderma 1
paths to the root