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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 IAGP ClinVar Annotator: match by term: Pachyonychia congenita 3 OMIM
ClinVar
PMID:11886499 PMID:16250206 PMID:22668561 PMID:24611874 PMID:25741868 NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18950
    syndrome 7916
      ectodermal dysplasia 287
        pachyonychia congenita 4
          Pachyonychia Congenita 3 1
Path 2
Term Annotations click to browse term
  disease 18950
    Developmental Diseases 12236
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10066
        genetic disease 9560
          monogenic disease 6962
            autosomal genetic disease 5722
              autosomal dominant disease 3668
                pachyonychia congenita 4
                  Pachyonychia Congenita 3 1
paths to the root