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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:Chudley-Rozdilsky Syndrome
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Accession:DOID:9001864 term browser browse the term
Synonyms:exact_synonym: Chudley syndrome;   MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC HYPOGONADISM
 primary_id: MESH:C535458
 alt_id: OMIM:253320


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Chudley-Rozdilsky Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        peripheral nervous system disease 4038
          neuropathy 3843
            neuromuscular disease 3017
              muscular disease 2130
                muscle tissue disease 1287
                  myopathy 1000
                    congenital myopathy 240
                      congenital myopathy 1A 7
                        Chudley-Rozdilsky Syndrome 0
paths to the root