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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:punctate palmoplantar keratoderma
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Accession:DOID:0060361 term browser browse the term
Definition:A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. (DO)
Synonyms:exact_synonym: punctate palmoplantar hyperkeratosis
 related_synonym: punctate keratosis palmoplantaris
 xref: ORDO:307967



show annotations for term's descendants           Sort by:
punctate palmoplantar keratoderma type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aagab alpha- and gamma-adaptin binding protein ISO DNA:mutations:cds:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Palmoplantar keratoderma, punctate type 1A
OMIM
CTD
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:23000146 PMID:23064416 PMID:23563198 More... RGD:9681734 NCBI chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900
JBrowse link
punctate palmoplantar keratoderma type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Punctate palmoplantar keratoderma type 2 ClinVar PMID:7545954 PMID:7894492 PMID:8531967 PMID:8644703 PMID:8833256 More... NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      skin disease 4319
        keratosis 189
          palmoplantar keratosis 44
            punctate palmoplantar keratoderma 2
              Porokeratosis 2, Palmar, Plantar, and Disseminated Type 0
              punctate palmoplantar keratoderma type I 1
              punctate palmoplantar keratoderma type II 1
              punctate palmoplantar keratoderma type III 0
Path 2
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Signs and Symptoms 11214
        Neurologic Manifestations 10450
          sensory system disease 7375
            skin disease 4319
              Genetic Skin Diseases 1889
                palmoplantar keratosis 44
                  punctate palmoplantar keratoderma 2
                    Porokeratosis 2, Palmar, Plantar, and Disseminated Type 0
                    punctate palmoplantar keratoderma type I 1
                    punctate palmoplantar keratoderma type II 1
                    punctate palmoplantar keratoderma type III 0
paths to the root