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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:focal nonepidermolytic palmoplantar keratoderma
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Accession:DOID:0111708 term browser browse the term
Definition:A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. (DO)
Synonyms:exact_synonym: FNEPPK;   Focal Palmoplantar Keratoderma;   Focal non epidermolytic palmoplantar keratoderma;   early onset tylosis (type B);   familial tylosis;   hyperkeratosis of the palms and soles and esophageal papillomas;   isolated focal non-epidermolytic palmoplantar keratoderma;   late onset tylosis (type A)
 primary_id: MESH:C538682
 xref: ORDO:448264



show annotations for term's descendants           Sort by:
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 chr10:85,669,276...85,672,211
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 chr10:58,382,054...58,413,657
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 chr10:85,669,276...85,672,211
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 | ClinVar Annotator: match by term: TRPV3-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr10:58,382,054...58,413,657
Ensembl chr10:57,883,546...57,913,296
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    disease of cellular proliferation 7892
      benign neoplasm 2223
        cell type benign neoplasm 1960
          papilloma 69
            focal nonepidermolytic palmoplantar keratoderma 4
              focal nonepidermolytic palmoplantar keratoderma 1 1
              focal nonepidermolytic palmoplantar keratoderma 2 1
Path 2
Term Annotations click to browse term
  disease 19142
    Pathological Conditions, Signs and Symptoms 13627
      Signs and Symptoms 11216
        Neurologic Manifestations 10451
          sensory system disease 7373
            skin disease 4318
              Genetic Skin Diseases 1888
                palmoplantar keratosis 45
                  nonepidermolytic palmoplantar keratoderma 13
                    focal nonepidermolytic palmoplantar keratoderma 4
                      focal nonepidermolytic palmoplantar keratoderma 1 1
                      focal nonepidermolytic palmoplantar keratoderma 2 1
paths to the root