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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
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      ectodermal dysplasia 252
        pachyonychia congenita 2
          Pachyonychia Congenita Recessive 0
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                pachyonychia congenita 2
                  Pachyonychia Congenita Recessive 0
paths to the root