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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
For additional species annotation, visit the Alliance of Genome Resources.



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:
ClinVar Annotator: match by term: Palmoplantar keratoderma, punctate type 1A
OMIM
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:7894492 PMID:8531967 PMID:8644703 PMID:8833256 PMID:8841191 More... NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    sensory system disease 6520
      skin disease 3877
        keratosis 152
          palmoplantar keratosis 36
            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 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        sensory system disease 6520
          skin disease 3877
            keratosis 152
              palmoplantar keratosis 36
                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