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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



show annotations for term's descendants           Sort by:
Pachyonychia Congenita 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT6A keratin 6A ISO ClinVar Annotator: match by term: Pachyonychia congenita 3 OMIM
ClinVar
PMID:11886499 PMID:16250206 PMID:17309457 PMID:21326300 PMID:22668561 More... NCBI chr 5:17,830,147...17,851,113
Ensembl chr 5:17,780,928...17,868,402
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17416
    syndrome 9845
      ectodermal dysplasia 522
        pachyonychia congenita 2
          Pachyonychia Congenita 3 1
Path 2
Term Annotations click to browse term
  disease 17416
    disease of anatomical entity 14866
      nervous system disease 12941
        Neurologic Manifestations 9396
          sensory system disease 6498
            skin disease 3695
              Genetic Skin Diseases 1776
                ectodermal dysplasia 522
                  pachyonychia congenita 2
                    Pachyonychia Congenita 3 1
paths to the root