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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 3
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Accession:DOID:9000914 term browser browse the term
Synonyms:exact_synonym: PC3
 primary_id: OMIM:615726
For additional species annotation, visit the Alliance of Genome Resources.


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Pachyonychia Congenita 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT6A keratin 6A ISO OMIM NCBI chr12:36,270,961...36,277,035
Ensembl chr12:37,048,390...37,054,607
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12807
    syndrome 6218
      ectodermal dysplasia 250
        pachyonychia congenita 4
          Pachyonychia Congenita 3 1
Path 2
Term Annotations click to browse term
  disease 12807
    Developmental Diseases 9074
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7918
        genetic disease 7481
          monogenic disease 5526
            autosomal genetic disease 4575
              autosomal dominant disease 2926
                pachyonychia congenita 4
                  Pachyonychia Congenita 3 1
paths to the root