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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:epidermolytic palmoplantar keratoderma 1
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Accession:DOID:0070552 term browser browse the term
Definition:An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2. (DO)
Synonyms:exact_synonym: EPPK1;   Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads
 related_synonym: KERATOSIS OF GREITHER
 alt_id: DOID:9007353
 xref: MESH:C564171;   MIM:144200;   MONDO:0007758


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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
Ensembl chr10:85,122,424...85,127,228 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19049
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          monogenic disease 10702
            autosomal genetic disease 9874
              autosomal dominant disease 6529
                epidermolytic palmoplantar keratoderma 1 1
Path 2
Term Annotations click to browse term
  disease 19049
    disease of anatomical entity 18383
      nervous system disease 14257
        Neurologic Manifestations 10337
          sensory system disease 7253
            skin disease 4198
              Genetic Skin Diseases 1886
                palmoplantar keratosis 43
                  Diffuse Palmoplantar Keratoderma 5
                    epidermolytic palmoplantar keratoderma 3
                      epidermolytic palmoplantar keratoderma 1 1
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