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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:Pachyonychia Congenita 1
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Accession:DOID:9008242 term browser browse the term
Synonyms:exact_synonym: Jadassohn-Lewandowski Syndrome (Pc-1);   Jadassohn-Lewandowsky Syndrome;   PC1;   Pachyonychia Congenita Tarda, Type 1;   Pachyonychia Congenita Type 1;   pachyonychia congenita, Jadassohn-Lewandowsky type
 primary_id: OMIM:167200


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Pachyonychia Congenita 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Pachyonychia congenita 1 OMIM
ClinVar		 PMID:8595410 PMID:10606845 PMID:10839714 PMID:11359398 PMID:11886499 More... NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      ectodermal dysplasia 542
        pachyonychia congenita 2
          Pachyonychia Congenita 1 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              Genetic Skin Diseases 1852
                ectodermal dysplasia 542
                  pachyonychia congenita 2
                    Pachyonychia Congenita 1 1
paths to the root