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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:Bresheck/Bresek Syndrome
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Accession:DOID:9006132 term browser browse the term
Synonyms:exact_synonym: Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, and Kidney Dysplasia/Hypoplasia ;   Bresek Syndrome;   Bresheck Syndrome
 primary_id: MESH:C564519;   RDO:0013457
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 17240
    syndrome 8140
      Bresheck/Bresek Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        central nervous system disease 10393
          brain disease 9755
            disease of mental health 7049
              developmental disorder of mental health 4382
                specific developmental disorder 3638
                  intellectual disability 3449
                    Bresheck/Bresek Syndrome 0
paths to the root