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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



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    syndrome 11279
      Bresheck/Bresek Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      nervous system disease 14347
        central nervous system disease 12612
          brain disease 11839
            disease of mental health 8435
              developmental disorder of mental health 5649
                specific developmental disorder 4609
                  intellectual disability 4384
                    Bresheck/Bresek Syndrome 0
paths to the root