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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:Bothnian type palmoplantar keratoderma
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Accession:DOID:0111707 term browser browse the term
Definition:A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in AQP5 on chromosome 12q13.12. (DO)
Synonyms:exact_synonym: Diffuse Palmoplantar Keratoderma, Bothnian Type;   PPKB
 primary_id: MESH:C536173
 alt_id: OMIM:600231
 xref: GARD:1862
For additional species annotation, visit the Alliance of Genome Resources.


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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 null OMIM
ClinVar
PMID:7531539 PMID:23830519 NCBI chr 7:141,249,044...141,252,576
Ensembl chr 7:141,249,044...141,252,578
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      skin disease 2714
        Genetic Skin Diseases 892
          palmoplantar keratosis 29
            nonepidermolytic palmoplantar keratoderma 9
              Bothnian type palmoplantar keratoderma 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          skin disease 2714
            Genetic Skin Diseases 892
              palmoplantar keratosis 29
                Diffuse Palmoplantar Keratoderma 11
                  nonepidermolytic palmoplantar keratoderma 9
                    Bothnian type palmoplantar keratoderma 1
paths to the root