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:Torticollis Keloids Cryptorchidism Renal Dysplasia
go back to main search page
Accession:DOID:9000687 term browser browse the term
Synonyms:exact_synonym: Goeminne syndrome;   TKC;   TKCR;   TKCR SYNDROME;   Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia
 primary_id: MESH:C536970;   RDO:0002705
 alt_id: OMIM:314300
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 12006
    Developmental Diseases 8578
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7554
        genetic disease 7119
          monogenic disease 5278
            X-linked monogenic disease 941
              Torticollis Keloids Cryptorchidism Renal Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 12006
    disease of anatomical entity 11571
      nervous system disease 9482
        central nervous system disease 8007
          brain disease 7396
            movement disease 967
              Dyskinesias 710
                dystonia 118
                  focal dystonia 9
                    cervical dystonia 3
                      Torticollis Keloids Cryptorchidism Renal Dysplasia 0
paths to the root