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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 17774
    syndrome 10062
      ectodermal dysplasia 535
        pachyonychia congenita 2
          Pachyonychia Congenita Recessive 0
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6587
            skin disease 3751
              Genetic Skin Diseases 1818
                ectodermal dysplasia 535
                  pachyonychia congenita 2
                    Pachyonychia Congenita Recessive 0
paths to the root