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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 chr10:85,120,962...85,127,228 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 JBrowse link
epidermolytic 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, epidermolytic ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,669,276...85,672,211 JBrowse link
G Krt9 keratin 9 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic ClinVar PMID:1385292 PMID:2531643 PMID:7512862 PMID:7516304 PMID:7523529 More... NCBI chr10:85,120,962...85,127,228 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: Epidermolytic palmoplantar keratoderma, 1 OMIM
ClinVar
PMID:152116 PMID:1385292 PMID:2531643 PMID:2960371 PMID:7511021 More... NCBI chr10:85,120,962...85,127,228 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 chr 7:132,976,618...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 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7376
      skin disease 4320
        keratosis 189
          palmoplantar keratosis 44
            Diffuse Palmoplantar Keratoderma 5
              Beardwell Syndrome 0
              Bothnian type palmoplantar keratoderma 1
              Nagashima-type palmoplantar keratosis 1
              epidermolytic palmoplantar keratoderma + 3
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11213
        Neurologic Manifestations 10448
          sensory system disease 7376
            skin disease 4320
              Genetic Skin Diseases 1889
                palmoplantar keratosis 44
                  Diffuse Palmoplantar Keratoderma 5
                    Beardwell Syndrome 0
                    Bothnian type palmoplantar keratoderma 1
                    Nagashima-type palmoplantar keratosis 1
                    epidermolytic palmoplantar keratoderma + 3
paths to the root