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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 2
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Accession:DOID:9004213 term browser browse the term
Synonyms:exact_synonym: Jackson-Lawler Syndrome (Pc-2);   Jackson-Lawler type pachyonychia congenita;   PC2;   Pachyonychia Congenita Type 2
 primary_id: OMIM:167210
For additional species annotation, visit the Alliance of Genome Resources.


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Pachyonychia Congenita 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt17 keratin 17 ISO ClinVar Annotator: match by term: Pachyonychia congenita type 2 OMIM
ClinVar
PMID:2248894 PMID:3954955 PMID:7529318 PMID:9008238 PMID:9767294 PMID:10571744 PMID:11348474 PMID:11874497 PMID:11886499 PMID:25741868 NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      ectodermal dysplasia 250
        pachyonychia congenita 2
          Pachyonychia Congenita 2 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal dominant disease 3040
                pachyonychia congenita 2
                  Pachyonychia Congenita 2 1
paths to the root