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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 type I
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Accession:DOID:0080214 term browser browse the term
Definition:A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. (DO)
Synonyms:exact_synonym: Buschke Fischer Brauer syndrome;   KPPP1;   PPKP1;   PPKP1A;   keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type;   keratosis palmoplantaris papulosa;   punctate palmoplantar keratoderma type 1;   punctate palmoplantar keratoderma type 1A;   punctate palmoplantar keratoderma type 1B;   punctate palmoplantar keratoderma type IA
 primary_id: MESH:C536161
 alt_id: OMIM:148600;   OMIM:614936

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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 ClinVar Annotator: match by term: Palmoplantar keratoderma, punctate type 1A OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23000146 PMID:23064416 PMID:23563198 More... NCBI chrNW_004955450:8,694,829...8,742,816
Ensembl chrNW_004955450:8,694,892...8,741,701 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6162
      skin disease 3500
        keratosis 166
          palmoplantar keratosis 38
            punctate palmoplantar keratoderma 2
              punctate palmoplantar keratoderma type I 1
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6162
            skin disease 3500
              Genetic Skin Diseases 1695
                palmoplantar keratosis 38
                  punctate palmoplantar keratoderma 2
                    punctate palmoplantar keratoderma type I 1
paths to the root