Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      ectodermal dysplasia 250
        pachyonychia congenita 2
          Pachyonychia Congenita Recessive 0
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal dominant disease 3040
                pachyonychia congenita 2
                  Pachyonychia Congenita Recessive 0
paths to the root