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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 4
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Accession:DOID:9007885 term browser browse the term
Synonyms:exact_synonym: PC4
 primary_id: OMIM:615728



show annotations for term's descendants           Sort by:
Pachyonychia Congenita 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103783749 keratin, type II cytoskeletal 6B ISO ClinVar Annotator: match by term: Pachyonychia congenita 4 OMIM
ClinVar
PMID:9618173 PMID:16250206 PMID:24354895 PMID:24611874 PMID:25741868 More... NCBI chr12:36,312,149...36,317,586
Ensembl chr12:37,089,376...37,094,087
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    syndrome 10118
      ectodermal dysplasia 535
        pachyonychia congenita 4
          Pachyonychia Congenita 4 1
Path 2
Term Annotations click to browse term
  disease 18006
    disease of anatomical entity 15252
      nervous system disease 13275
        Neurologic Manifestations 9630
          sensory system disease 6622
            skin disease 3768
              Genetic Skin Diseases 1836
                ectodermal dysplasia 535
                  pachyonychia congenita 4
                    Pachyonychia Congenita 4 1
paths to the root