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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 LOC486523 keratin 6A ISO OMIM NCBI chr27:2,609,414...2,623,810 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12734
    syndrome 6172
      ectodermal dysplasia 245
        pachyonychia congenita 2
          Pachyonychia Congenita 3 1
Path 2
Term Annotations click to browse term
  disease 12734
    Developmental Diseases 9026
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7894
        genetic disease 7458
          monogenic disease 5466
            autosomal genetic disease 4548
              autosomal dominant disease 2899
                pachyonychia congenita 2
                  Pachyonychia Congenita 3 1
paths to the root