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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:Ehlers-Danlos Syndrome, Beasley Cohen Type
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Accession:DOID:9000677 term browser browse the term
Synonyms:exact_synonym: Ehlers-Danlos syndrome with mental retardation, deafness, and cataract
 primary_id: MESH:C536199
 alt_id: OMIM:608763


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16107
    syndrome 10386
      Ehlers-Danlos syndrome 254
        Ehlers-Danlos Syndrome, Beasley Cohen Type 0
Path 2
Term Annotations click to browse term
  disease 16107
    Pathological Conditions, Signs and Symptoms 12367
      Signs and Symptoms 10143
        Neurologic Manifestations 9800
          sensory system disease 6765
            skin disease 3833
              Genetic Skin Diseases 1849
                Ehlers-Danlos syndrome 254
                  Ehlers-Danlos Syndrome, Beasley Cohen Type 0
paths to the root