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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:Berk-Tabatznik Syndrome
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Accession:DOID:9004063 term browser browse the term
Synonyms:exact_synonym: Cleft nare, brachydactyly, short stature-dwarfism;   Congenital optic atrophy and brachytelephalangy;   Kyphosis brachyphalangy optic atrophy
 primary_id: MESH:C535432


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Berk-Tabatznik Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        Neurologic Manifestations 10052
          sensory system disease 6960
            eye disease 3490
              optic nerve disease 372
                optic atrophy 190
                  Hereditary Optic Atrophies 82
                    Berk-Tabatznik Syndrome 0
paths to the root