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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:Torticollis Keloids Cryptorchidism Renal Dysplasia
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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.


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Term paths to the root
Path 1
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
            X-linked monogenic disease 929
              Torticollis Keloids Cryptorchidism Renal Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            movement disease 1094
              Dyskinesias 797
                dystonia 132
                  focal dystonia 12
                    cervical dystonia 4
                      Torticollis Keloids Cryptorchidism Renal Dysplasia 0
paths to the root