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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 Recessive
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Accession:DOID:9008045 term browser browse the term
Synonyms:exact_synonym: Autosomal recessive pachyonychia congenita
 primary_id: MESH:C538094
 alt_id: OMIM:260130;   RDO:0004029



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    syndrome 17742
      ectodermal dysplasia 739
        pachyonychia congenita 4
          Pachyonychia Congenita Recessive 0
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      nervous system disease 25939
        Neurologic Manifestations 15118
          sensory system disease 9679
            skin disease 4862
              Genetic Skin Diseases 2461
                ectodermal dysplasia 739
                  pachyonychia congenita 4
                    Pachyonychia Congenita Recessive 0
paths to the root